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1.
Respirar (Ciudad Autón. B. Aires) ; 16(4): 417-420, Dic.2024.
Article in Spanish | LILACS, UNISALUD, BINACIS | ID: biblio-1580716

ABSTRACT

El síndrome de Kartagener es una variante de la discinesia ciliar primaria, que consiste en una enfermedad hereditaria autosómica recesiva, poco frecuente, caracterizada por la tríada de bronquiectasias, sinusitis y dextrocardia. En este existen mutaciones en los genes responsables de la síntesis de proteínas ciliares, siendo el deterioro de la motilidad ciliar el principal problema fisiopatológico. Se presenta el caso de una paciente de 14 años de edad quien consulta por tos de tres semanas de evolución sin antecedentes de importancia, a quien como hallazgo incidental se le diagnostica dextrocardia. Por alta sospecha de síndrome de Kartagener, se solicitan estudios complementarios y se realiza broncoscopia que obtiene todos los componentes para un síndrome de Kartagener completo.


Kartagener syndrome is a variant of primary ciliary dyskinesia, which consists of a ra-re, autosomal recessive inherited disease, characterized by the triad of bronchiectasis, sinusitis and dextrocardia. In this case, there are mutations in the genes responsible for ciliary protein, with the deterioration of ciliary motility being the main pathophysiological problem. The case of a 14-year-old patient with a three-week history of cough with no significant history is presented. Dextrocardia was diagnosed as an incidental finding. Due to high suspicion of Kartagener syndrome, complementary studies were requested and bronchoscopy was performed, obtaining all the components for a complete Kartagener syndrome.


Subject(s)
Humans , Female , Adolescent , Sinusitis , Situs Inversus , Bronchiectasis , Kartagener Syndrome/diagnosis , Ciliary Motility Disorders/congenital , Dextrocardia , Respiratory Tract Infections , Biopsy , Bronchoscopy , Diagnostic Imaging , Clinical Laboratory Techniques , Cough , Guatemala , Genetic Diseases, Inborn/diagnosis , Infertility , Anti-Bacterial Agents , Mutation/genetics
2.
Distúrbios Comun. (Online) ; 36(2): e65975, 14/08/2024.
Article in English, Portuguese | LILACS | ID: biblio-1572263

ABSTRACT

Introdução: O trabalho conjunto da genética médica e da fonoaudiologia é essencial, contribuindo para o desenvolvimento de procedimentos que auxiliam no tratamento de pacientes com distúrbios da comunicação. Objetivo: Analisar as características fonoaudiológicas de pacientes pediátricos atendidos por um serviço de genética clínica. Método: Estudo transversal observacional, realizado com pacientes atendidos pelo serviço de genética de um hospital em Porto Alegre. Para a coleta de dados, aplicou-se um questionário relacionado as áreas de audição, deglutição, motricidade orofacial, voz e linguagem. Resultados: A amostra foi constituída por 54 participantes com idades entre 8 meses e 17 anos (média de idade 6 anos e 5 meses). 24,07% (n=13) dos pacientes apresentaram diagnóstico de síndrome, e 59,26% (n=32) tinham atraso no desenvolvimento neuropsicomotor. Com relação ao perfil fonoaudiológico, 81,48% (n=44) apresentaram algum hábito oral deletério durante a infância. 16,67% (n=9) percebiam alguma dificuldade para ouvir e 29,62% (n=16) para deglutir. 85,19% (n=46) dos participantes manifestaram a linguagem oral desenvolvida e, destes, 71,74% (n=33) apresentavam trocas na fala. 33,33% (n=18) já estavam em atendimento fonoaudiológico, e outros 24,07% (n=13) estavam na fila de espera para este atendimento. Conclusões: Uma parte significativa dos pacientes apresentou queixas e/ou manifestações nas áreas da comunicação humana, principalmente em relação à linguagem, à fala e aos hábitos orais deletérios. Esses dados destacam a importância do encaminhamento para a equipe de fonoaudiologia. (AU)


Introduction: The collaborative efforts of medical genetics and speech therapy are essential, contributing to the development of procedures that assist in treating patients with communication disorders. Objective: To analyze the speech therapy characteristics of pediatric patients seen by a clinical genetics service. Methods: Observational cross-sectional study conducted with patients seen at the genetics service of a hospital in Porto Alegre. A questionnaire related to hearing, swallowing, orofacial motricity, voice, and language areas was used for data collection. Results: The sample consisted of 54 participants aged between 8 months and 17 years, with an average age of 6 years and 5 months. 24.07% (n=13) of the patients had a diagnosis of syndrome, and 59.26% (n=32) had delayed neuropsychomotor development. Regarding the speech therapy profile, 81.48% (n=44) had some harmful oral habit during childhood. 16.67% (n=9) reported some difficulty in hearing, and 29.62% (n=16) in swallowing. 85.19% (n=46) of the participants showed developed oral language, and of these, 71.74% (n=33) made speech substitutions. 33.33% (n=18) of the patients were already undergoing speech therapy, and another 24.07% (n=13) were on the waiting list for this treatment. Conclusions: A significant portion of the patients presented complaints and/or manifestations in the areas of human communication, especially regarding language, speech, and harmful oral habits. These data highlight the importance of referral to the speech therapy team. (AU)


Introducción: La colaboración entre genética médica y foniatría es esencial para desarrollar procedimientos que ayuden en el tratamiento de pacientes con trastornos de la comunicación. Objetivo:Analizar las características de patología del habla y lenguaje de pacientes pediátricos atendidos por un servicio de genética clínica. Método: Estudio transversal observacional con pacientes atendidos por el servicio de genética de un hospital en Porto Alegre. Se aplicó un cuestionario sobre audición, deglución, motricidad orofacial, voz y lenguaje. Resultados: La muestra consistió en 54 participantes con edades comprendidas entre 8 meses y 17 años (media: 6 años y 5 meses). El 24,07% (n=13) de los pacientes tenían un diagnóstico de síndrome, y el 59,26% (n=32) presentaron retraso en el desarrollo neuropsicomotor. En cuanto al perfil foniatra, el 81,48% (n=44) presentaron algún hábito oral perjudicial durante la infancia. El 16,67% (n=9) reportaron dificultades para oír, y el 29,62% (n=16) para tragar. El 85,19% (n=46) manifestaron lenguaje oral desarrollado y, de ellos, el 71,74% (n=33) realizaban intercambios en el habla. El 33,33% (n=18) de los pacientes ya estaban en tratamiento foniatra y el 24,07% (n=13) estaban en lista de espera para este tratamiento. Conclusiones: Una parte significativa de los pacientes presentó quejas y/o manifestaciones en las áreas de la comunicación humana, especialmente en relación con el lenguaje, el habla y los hábitos orales perjudiciales, enfatizando la importancia de la derivación al equipo de foniatría. (AU)


Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Adolescent , Health Services , Language Development Disorders/genetics , Speech Therapy , Syndrome , Cross-Sectional Studies , Surveys and Questionnaires , Genetics, Medical , Genetic Diseases, Inborn
3.
Rev. argent. mastología ; 42(154): 41-58, jun. 2024. ilus
Article in Spanish | LILACS, BINACIS | ID: biblio-1568375

ABSTRACT

Introducción: Las mujeres con predisposición genética-familiar presentan un riesgo más elevado de desarrollar cáncer de mama. La vigilancia es una de las estrategias más efectivas para ofrecer a este subgrupo de mujeres, sin embargo la adherencia a la misma puede ser dificultosa. Objetivo: Analizar la adherencia de las pacientes con Alto Riesgo Heredo-Familiar (ARHF) al programa específico de "Seguimiento de pacientes de Alto Riesgo" del Hospital Universitario Austral. Material y método: Se revisaron de forma retrospectiva datos de 104 mujeres sanas con ARHF que ingresaron al programa de vigilancia: "Seguimiento de pacientes de Alto Riesgo" del Hospital Universitario Austral en el período comprendido entre junio de 2016 a febrero de 2022. Resultados: La adherencia al programa fue total en 38 pacientes (36,54%) y parcial en 42 (40,38%). Se observó falta de adherencia en 24 pacientes (23,07%). La causa más prevalente fue la incomodidad al realizar la resonancia (54,16%). Analizando la adherencia según el año de ingreso al programa se observa una caída significativa a partir del 3er año de seguimiento y solo 48,98% completaron la sexta ronda. Conclusiones: La falta de adherencia observada fue significativa. Los datos demostrados apuntan a una necesidad de continuar desarrollando estrategias que faciliten el seguimiento(AU)


Introduction: Women with a genetic-familial predisposition have a higher risk of developing breast cancer. Surveillance is one of the most effective strategies to offer this subgroup of women, however adherence to it can be difficult. Objetive: To analize the adherence of patients with High Risk of Familial-Hereditary (HRFH) breast cancer to a specific program: "Follow-up in High Risk patients" of the Austral University Hospital. Material and method: Data from 104 women with HRFH who were admitted to the surveillance program: "Follow-up in High Risk patients" of the Austral University Hospital in the period from june 2016 to february 2022 were retrospectively reviewed. Results: Adherence to the program was complete in 38 patients (36,54%) and partial in 42 (40,38%). 24 (23,07%) patients had lack of adherence. The most prevalent cause was discomfort when performing the resonance (54,16%). When we analyze adherence according to the year of admission to the program, a significant drop is observed from de 3rd year of follow-up and only 48,98% completed round six. Conclusions: The observed lack of adherence was significant. The demonstrated data points to a need to continue developing strategies that facilitate monitoring(AU)


Subject(s)
Treatment Adherence and Compliance , Genetic Diseases, Inborn
4.
Arq. Asma, Alerg. Imunol ; 8(2): 173-177, 20240600. Ilus
Article in English | LILACS | ID: biblio-1585291

ABSTRACT

Ataxia-telangiectasia (AT) is a rare autosomal recessive disorder caused by homozygous or compound heterozygous pathogenic variants in the ataxia telangiectasia mutated (ATM) gene, located at the 11q22-23 locus. This gene encodes a serine/threonine kinase involved in DNA double-strand break repair, genomic stability, cell cycle control, and apoptosis. The clinical manifestations of AT include cerebellar ataxia, oculocutaneous telangiectasia, primary immunodeficiency, and an increased risk of malignancies. The global incidence of AT ranges from 1:40,000 to 1:300,000 live births. In this report, we describe the case of a 6-year-old girl referred to the Medical Genetics Service for investigation of ataxia and primary immunodeficiency. She was the only child of a young, healthy, nonconsanguineous couple, with no family history of similar cases, malformations, or genetic diseases. The proband presented with the typical AT phenotype, including progressive gait ataxia in childhood, oculocutaneous telangiectasia, and primary immunodeficiency. The diagnosis of AT was confirmed through next-generation sequencing of the ATM gene with copy number variation analysis that identified 2 compound heterozygous pathogenic variants.


A ataxia-telangiectasia (AT) é uma doença rara de herança autossômica recessiva causada pela presença de variantes patogênicas em homozigose ou heterozigose composta no gene ATM. Este gene, localizado na região cromossômica 11q22-23, codifica uma serina/treonina quinase, cujas funções estão relacionadas ao reparo de quebras de fita dupla do DNA, estabilidade genômica, controle do ciclo celular e apoptose. As manifestações clínicas são caracterizadas por ataxia cerebelar, telangiectasia oculocutânea, imunodeficiência primária e risco aumentado de malignidades. A incidência global de AT é de 1:40.000 a 1:300.000 nascimentos. Probanda, do sexo feminino, 6 anos, encaminhada ao serviço de Genética Médica para investigação de ataxia e imunodeficiência primária. Filha única de casal jovem, saudável, não consanguíneo, sem histórico familiar de outros casos semelhantes, malformações ou doenças genéticas. A probanda apresenta o fenótipo típico de AT com ataxia de marcha progressiva de início na infância, telangiectasia oculocutânea e imunodeficiência primária. O diagnóstico de AT foi confirmado através do sequenciamento por NGS (Next-Generation Sequencing) do gene ATM com análise de CNV (Copy Number Variation) que identificou duas variantes patogênicas em heterozigose composta.


Subject(s)
Humans , Female , Child , Ataxia Telangiectasia , Gait Ataxia , Ataxia , Signs and Symptoms , Congenital Abnormalities , DNA , Protein Serine-Threonine Kinases , Primary Immunodeficiency Diseases , Genetic Diseases, Inborn , Neoplasms
5.
Rev. cienc. salud (Bogotá) ; 22(2): [1-12], 20240531.
Article in Spanish | LILACS | ID: biblio-1571814

ABSTRACT

Introducción: el raquitismo se caracteriza por una alteración en la mineralización normal del tejido óseo y, según la causa, se clasifica en formas adquiridas o hereditarias. De los raquitismos hereditarios, el raquitismo hipofosfatémico ligado al cromosoma X es el más común. Se distingue por anomalías en el metabolismo del fósforo, secundario a una alteración en el gen phex, ubicado en el cromosoma X. Como resultado de esta alteración se afecta la codificación de una metaloproteasa, cuya función es disminuir las concentraciones séricas del factor de crecimiento fibroblástico-23, que resulta en la pérdida anormal de fósforo por orina. Clínicamente, se presenta con deformidades óseas en los miembros inferiores, dolor óseo, talla baja y alteraciones dentales. El diagnóstico es clínico, asociado con hipofosfatemia, fosfaturia y hallazgos radiológicos de raquitismo, que se confirman con la prueba molecular variante patogénica del gen phex. Presentación del caso: se describe el caso de una paciente de 5 años de edad a quien se le diagnosticó esta enfermedad, lo que permitió el inicio de un tratamiento oportuno y un abordaje integral. Conclusión: por tratarse de una enfermedad hereditaria poco común, con debut en la infancia y gran impacto en el crecimiento longitudinal y salud ósea que afecta la calidad de vida de los niños, el conocimiento de este caso tiene como objetivo brindar herramientas básicas para un abordaje que lleve a un diagnóstico temprano, dado que esto es clave para el pronóstico, seguimiento y tratamiento multidisciplinario de esta patología.


Background: Rickets is characterized by an alteration in the normal mineralization of bone tissue and can be classified into acquired or hereditary forms. X-linked hypophosphatemic rickets (xlh) is the most common cause of hereditary forms. It is distinguished by an abnormal phosphorus metabolism attribu-ted to a mutation in the phex gene (phosphate regulating endopeptidase analog, X-linked), located on the X chromosome. This abnormal gene affects the encoding of a metalloprotease responsible for decreasing serum levels of fibroblast growth factor - 23 (fgf-23), leading to an abnormal loss of phosphorus through urine. Patients present with bone deformities in the lower limbs, bone pain, short stature, and dental abnormalities. The diagnosis is made by the clinical presentation, associated with hypophosphatemia, phosphaturia and radiological findings suggestive of rickets and it is confirmed by molecular testing with the identification of the mutation in the phex gene. Case presentation: We describe the case of a 5-year-old patient diagnosed with xlh. Early diagnosis allowed to have an early treatment implementation, resul-ting in improved clinical outcomes. Conclusion: As a rare hereditary disease with onset in childhood and significant impact on longitudinal growth, bone health and potential impacts on the children quality of life, we aim to provide basic clinical tools for a comprehensive diagnostic approach of xlh.


Introdução: o raquitismo é caracterizado por uma alteração na mineralização normal do tecido ósseo, sendo classificado de acordo com a causa em formas adquiridas ou hereditárias. Dos raquitismos here-ditários, o raquitismo hipofosfatêmico ligado ao cromossomo X é o mais comum. É caracterizado por anormalidades no metabolismo do fósforo, secundárias a uma alteração no gene phex (phosphate regu-lating endopeptidase analog, X-linked), diminuição dos níveis séricos do fator de crescimento de fibro-blastos-23 (fgf-23), o que resulta em perda anormal de fósforo pela urina. Clinicamente apresenta-se com deformidades ósseas nos membros inferiores, dores ósseas, baixa estatura e alterações dentárias. O diagnóstico é clínico, associado a hipofosfatemia, fosfatúria e achados radiológicos de raquitismo, confirmado com teste molecular para variante patogênica do gene phex. Apresentação do caso: descre-ve-se o caso de um paciente de 5 anos que foi diagnosticado com esta doença, o que permitiu o início do tratamento oportuno e uma abordagem abrangente. Conclusão: por se tratar de uma doença hereditária rara, com início na infância e grande impacto no crescimento longitudinal e na saúde óssea que afeta a qualidade de vida das crianças, o conhecimento deste caso visa fornecer ferramentas básicas para uma abordagem que resulte em um diagnóstico precoce, visto que este é fundamental para o prognóstico, acompanhamento e tratamento multidisciplinar desta patologia


Subject(s)
Humans , Pain , Patients , Congenital Abnormalities , Hypophosphatemia , Molecular Diagnostic Techniques , Familial Hypophosphatemic Rickets , Research Report , Fibroblast Growth Factors , Genetic Diseases, Inborn , Hypophosphatemia, Familial
6.
Arch. pediatr. Urug ; 95(2): e216, 2024. tab
Article in Spanish | LILACS, BNUY, UY-BNMED | ID: biblio-1581662

ABSTRACT

Atendiendo a la importancia de la patología genética en pediatría, causa significativa de morbimortalidad infantil y teniendo en cuenta el aumento de pacientes con dicha patología en las unidades de cuidados intensivos pediátricos (UCIP), realizamos un estudio prospectivo, descriptivo y transversal desde el 1º de enero de 2020 al 31 de diciembre de 2021 en una UCIP de Uruguay. Se enrolaron todos los pacientes egresados de la UCIP con diagnóstico de patología genética confirmada o sospechada. La prevalencia de patología genética fue de 17/244. Las enfermedades monogénicas fueron las más frecuentes (9/17), seguidas de las enfermedades genéticas sospechadas sin orientación etiológica (6/17) y luego las anomalías cromosómicas (2/17). La frecuencia de mortalidad, así como los días de internación promedio para estos pacientes fue mayor; 12/17 fueron sometidos a alguna maniobra invasiva durante su estadía. Creemos que es fundamental que los actores de la salud cuenten con la formación adecuada para detectar signos de alarma que permitan sospechar una enfermedad genética, contar con los recursos humanos especializados en dicha área, así como con los recursos financieros; lo que se logra a través de políticas de salud que contemplen estas enfermedades, las que individualmente son poco frecuentes, pero que en conjunto afectan a una parte importante de la población.


Given the importance of genetic pathology in pediatrics, a significant cause of infant morbidity and mortality, and taking into account the increase in patients with this pathology in Pediatric Intensive Care Units (PICU), we carried out a prospective, descriptive and cross-sectional study from January 1, 2020 to December 31, 2021 in a PICU in Uruguay. All patients discharged from the PICU with a diagnosis of confirmed or suspected genetic pathology were enrolled. The prevalence of genetic pathology was 17/244. Monogenic diseases were the most frequent (9/17), followed by suspected genetic diseases with no etiological orientation (6/17) and then chromosomal abnormalities (2/17). The frequency of mortality as well as the average days of hospitalization for these patients was higher. 12/17 underwent some invasive maneuvers or prosthesis placement during their stay. We believe it is essential that health providers have adequate training to detect warning signs to suspect a genetic disease, have specialized human resources in this area, as well as financial resources; this can mainly be achieved through health policies that contemplate this disease that individually are rare, but overall affect a significant part of the population.


Considerando a importância da patologia genética em pediatria, causa significativa de morbimortalidade infantil, e tendo em conta o aumento de pacientes com esta patologia em Unidades de Terapia Intensiva Pediátrica (UTIP), realizamos um estudo prospectivo, descritivo e transversal de 1º de janeiro de 2020 a 31 de dezembro de 2021 em uma UTIP no Uruguai. Foram incluídos todos os pacientes que receberam alta da UTIP com diagnóstico de patologia genética confirmada ou suspeita. A prevalência de patologia genética foi de 17/244. As doenças monogênicas foram as mais frequentes (9/17), seguidas pelas suspeitas de doenças genéticas sem orientação etiológica (6/17) e depois pelas anomalias cromossômicas (2/17). A frequência de mortalidade, bem como a média de dias de internação desses pacientes, foi maior. 17/12 foram submetidos a alguma manobra invasiva durante sua internação. Acreditamos ser fundamental que as assistências médicas tenham formação adequada para detectar sinais de alerta que lhes permitam suspeitar de uma doença genética, tenham recursos humanos especializados nesta área, bem como recursos financeiros; o que é alcançado por meio de políticas de saúde que contemplem essas doenças, que individualmente são raras, mas que em conjunto afetam uma parte importante da população.


Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Adolescent , Genetic Diseases, Inborn/genetics , Genetic Diseases, Inborn/epidemiology , Uruguay/epidemiology , Intensive Care Units, Pediatric , Child, Hospitalized/statistics & numerical data , Prevalence , Cross-Sectional Studies , Prospective Studies , Adolescent, Hospitalized/statistics & numerical data
7.
Salud(i)ciencia (Impresa) ; 26(2): 78-83, 2024. tab.
Article in Spanish | LILACS | ID: biblio-1580042

ABSTRACT

Introduction: Congenital malformation are structural, morphological, molecular or functional abnormalities that occur during intrauterine life and are detected prenatally, natally or postnatally. Ultrasonography is the universally accepted imaging method for the prenatal detection of most anomalies. General objective: To determine the prevalence of Congenital malformation diagnosed prenatally by ultrasound in a hospital of high complexity in Cali, Colombia during the period of 2012-2017. Methods: A retrospective descriptive study was carried out that included 576 live and dead newborns with prenatal or postnatal diagnosis of some congenital malformation, born in the Fundación Valle (high complexity complexity hospital and referral center) between January 2012 and December 2017. Information on the diagnosis and type of malformation, sociodemographic data of the parents and exposure to risk factors during pregnancy were collected from the medical records. This information also feeds the Latin American Collaborative Study of Congenital Malformations. The database was stored in the BDClinic application. Descriptive analysis was carried out with frequency tables, using STATA version 14.1. Results: A prenatal ultrasound detection rate of Congenital malformation of 68.6% was found. The most detected malformations in order of frequency by affected system were circulatory (41%), central nervous (20.5%), musculoskeletal (15.2%), urinary (7.6%) and chromosomal abnormalities (5.1%). Conclusions: The prenatal detection rate finding evidence that there is probably an improvement in the implementation of prenatal care programs, since the figures exceed the statistics previously reported in the national (32.5%) and international (61.4%) literature.


Introducción: Las malformaciones congénitas son anomalías estructurales, morfológicas, moleculares o funcionales que ocurren durante la vida intrauterina y se detectan prenatal, natal o posnatalmente. La ultrasonografía es el método imagenológico universalmente aceptado para la detección prenatal de la mayoría de las anomalías. Objetivo general: Determinar la prevalencia de malformaciones congénitas diagnosticadas prenatalmente por ultrasonido en un hospital de alta complejidad en Cali, Colombia, durante el periodo de 2012-2017. Métodos: Se realizó un estudio descriptivo retrospectivo que incluyó 576 recién nacidos vivos y muertos con diagnóstico prenatal o postnatal de alguna malformación congénita, nacidos en el Hospital Universitario Fundación Valle del Lili (hospital de alta complejidad y centro de referencia), entre enero de 2012 y diciembre de 2017. Se recopiló información sobre el diagnóstico y tipo de malformación, datos sociodemográficos de los padres y exposición a factores de riesgo durante el embarazo a partir de las historias clínicas. Esta información alimenta también el Estudio Colaborativo Latinoamericano de Malformaciones Congénitas. La base de datos fue almacenada en el aplicativo BDClinic. Se realizó un análisis descriptivo con tablas de frecuencia, mediante STATA versión 14.1. Resultados: La tasa de detección prenatal por ultrasonido de recién nacidos malformados fue 68.6%. Las malformaciones más detectadas en orden de frecuencia por sistema afectado fueron el circulatorio (41%), el nervioso central (20.5%), el osteomuscular (15.2%), el urinario (7.6%) y, luego, las anormalidades cromosómicas (5.1%). Conclusiones: La tasa de detección prenatal encontrada evidencia que probablemente hay una mejoría en la implementación de los programas de atención prenatal, ya que las cifras superan las estadísticas reportadas previamente en la literatura nacional (32.5%) e internacional (61.4%).


Subject(s)
Congenital Abnormalities , Prenatal Care , Prenatal Diagnosis , Ultrasonography, Prenatal , Genetic Diseases, Inborn
8.
Med. infant ; 30(2): 204-213, Junio 2023. ilus, tab
Article in Spanish | LILACS, UNISALUD, BINACIS | ID: biblio-1443868

ABSTRACT

El Hospital Garrahan ha sido pionero en el diagnóstico molecular de patologías pediátricas en Argentina. Los avances tecnológicos de las últimas décadas en el área de la biología molecular, sentaron las bases para la optimización y ampliación del diagnóstico molecular a partir de la secuenciación masiva en paralelo de múltiples genes. El presente trabajo describe el proceso de implementación de los estudios de secuenciación de nueva generación y el desarrollo de la Unidad de Genómica en un hospital público pediátrico de alta complejidad, así como su impacto en las capacidades diagnósticas de enfermedades poco frecuentes de origen genético. La creación del Grupo Interdisciplinario de Estudios Genómicos constituyó la vía institucional para la toma de decisiones que implican la implementación de nuevos estudios genómicos y el establecimiento de prioridades diagnósticas, extendiendo la disponibilidad del diagnóstico molecular a más disciplinas. La Unidad de Genómica trabaja en diseñar las estrategias que permitan la mayor optimización de los recursos con los que cuenta el hospital, teniendo en cuenta el equipamiento disponible, las prioridades establecidas y la frecuencia de las distintas patologías. Se demuestra el salto significativo operado en nuestras capacidades diagnósticas, tanto en la variedad de enfermedades como en el número de genes analizados, habiendo estudiado a la fecha alrededor de 2.000 pacientes, muchos de los cuales ven de este modo finalizada su odisea diagnóstica. Los estudios de NGS se han convertido en una herramienta de la práctica diaria para la atención de un número importante de pacientes de nuestro hospital. Continuaremos trabajando para ampliar su aplicación a la mayor cantidad de patologías, a través de los mecanismos institucionales ya existentes (AU)


The Garrahan Hospital has been a pioneer in the molecular diagnosis of pediatric diseases in Argentina. The technological advances of the last decades in the area of molecular biology have laid the foundations for the optimization and expansion of molecular diagnostics through massive parallel sequencing of multiple genes. This study describes the process of implementation of next-generation sequencing studies and the development of the Genomics Unit in a public pediatric tertiary hospital, and its impact on the capacity to diagnose rare diseases of genetic origin. The creation of the Interdisciplinary Group of Genomic Studies constituted the institutional pathway for decision-making involving the implementation of new genomic studies and the establishment of diagnostic priorities, extending the availability of molecular diagnostics to additional disciplines. The Genomics Unit is working to design strategies that allow for optimization of the resources available to the hospital, taking into account the equipment available, the priorities established, and the frequency of the different diseases. It demonstrates the significant leap in our diagnostic capabilities, both in the variety of diseases and in the number of genes analyzed. To date, around 2,000 patients have been studies, many of whom have thus completed their diagnostic odyssey. NGS studies have become a tool in daily practice for the care of a significant number of patients in our hospital. We will continue working to expand its application to as many diseases as possible, through the existing institutional mechanisms (AU)


Subject(s)
Humans , Infant, Newborn , Infant , Child, Preschool , Child , Adolescent , Genomics/instrumentation , Molecular Diagnostic Techniques/methods , High-Throughput Nucleotide Sequencing , Genomic Medicine/trends , Genetic Diseases, Inborn/diagnosis , Laboratories, Hospital , Hospitals, Pediatric
9.
Distúrb. comun ; 35(1): e58948, 01/06/2023.
Article in Portuguese | LILACS | ID: biblio-1436184

ABSTRACT

Introdução: A prematuridade é um fator de risco para o crescimento e o desenvolvimento dos neonatos. Objetivo: Analisar as características clinicas e fonoaudiológicas de neonatos hospitalizados na unidade de tratamento intensivo (UTI) neonatal com suspeita de doença genética. Material e Método:Estudo transversal descritivo, conduzido em um hospital na região sul do Brasil com coleta de dados entre novembro de 2020 e setembro de 2021. Todos os neonatos que se encontravam internados na UTI, atendidos pelo Sistema Único de Saúde e que apresentavam suspeita de etiologias genéticas foram acompanhados pela equipe de Fonoaudiologia. Foram analisados todos os prontuários dos recém-nascidos com suspeita de alteração genética, extraindo-se os dados médicos e fonoaudiológicos. Resultados:A amostra foi constituída por 14 neonatos prematuros com média de idade gestacional de 36 semanas e 5 dias e uma média de tempo de nascimento, no momento da avaliação fonoaudiológica, de 14,6 dias de vida. No que se refere às comorbidades, 71,4% dos recém-nascidos apresentavam alguma malformação, sendo múltiplas na maior parte dos casos (64,29%). Todos os neonatos estavam fazendo uso de via enteral de alimentação durante a avaliação fonoaudiológica. Na avaliação de reflexos orais, observou-se que houve um predomínio de pacientes com reflexo de procura débil, sendo que a maior parte apresentava reflexo de sucção presente. Conclusões: Pode-se afirmar que, neste estudo, a amostra foi composta por pacientes principalmente prematuros que apresentavam malformações múltiplas e que todos faziam uso de via alternativa de alimentação sugerindo, assim, a necessidade de atendimento fonoaudiológico como parte da assistência multidisciplinar desses neonatos. (AU)


Introduction: Prematurity is a risk factor for the growth and development of neonates. Objective: To analyze clinical and speech therapy characteristics of neonates hospitalized in the neonatal intensive care unit with suspected genetic disease. Method: Descriptive cross-sectional study conducted in a hospital in southern Brazil with data collection between November 2020 and September 2021. All neonates who were hospitalized in the ICU attended by the public health system and who were suspected of having genetic etiologies were followed up by the Speech-Language Pathology team. All newborn`s medical records with suspected genetic alterations were analyzed and the medical and the speech-language pathology data were analyzed. Results: The sample consisted of 14 premature neonates with a mean gestational age of 36 weeks and 5 days and a mean time of birth, at the time of the speech-language pathology assessment, of 14.6 days of life. Regarding to comorbidities, 71.4% of newborns had some malformation, being multiple in most cases (64.29%). All neonates were using enteral feeding at the time of the speech-language evaluation. At the oral reflexes evaluation it was observed that there was a predominance of patients with a weak rooting reflex and most of them had a present sucking reflex. Conclusions: In this study the sample consisted of mainly premature patients who had multiple malformations and all of them used an alternative feeding route, thus suggesting the demand for speech therapy as part of the multidisciplinary care of these neonates. (AU)


Introducción: La prematuridad es un factor de riesgo para el crecimiento y desarrollo de los recién nacidos. Objetivo: Analizar las características clinicas y de terapia del habla de recién nacidos hospitalizados en la unidad de cuidados intensivos neonatales (UCI) con sospecha de enfermedad genética. Método: Estudio transversal descriptivo realizado en un hospital en la región del Sur de Brasil. Todos los recién nacidos que fueron hospitalizados en la UTI y que tenían sospecha de tener etiologías genéticas, fueron atendidos por el equipo de Patología del Habla y Lenguaje. Se analizaron todas las historias clínicas de los recién nacidos con sospecha de alteraciones genéticas, extrayéndose datos médicos y de patología del habla y del lenguaje. Resultados: La muestra estuvo constituida por 14 neonatos prematuros con una edad gestacional media de 36 semanas. En cuanto a las comorbilidades, el 71,4% de los recién nacidos presentó alguna malformación, siendo múltiples en la mayoría de los casos (64,29%). Con respecto a los datos de la evaluación de la patología del habla y el lenguaje, todos los recién nacidos estaban usando alimentación enteral. En la evaluación de los reflejos orales, se observó que hubo un predominio de pacientes con reflejo de búsqueda débil, y la mayoría de ellos tenían presente el reflejo de succión. Conclusiones: Se puede decir que en este estudio la muestra estuvo compuesta principalmente por pacientes prematuros, que presentaban plurimalformaciones y que todos utilizaban una vía alternativa de alimentación, sugiriendo así, la necesidad de la fonoaudiología como parte del cuidado multidisciplinario de estos neonatos. (AU)


Subject(s)
Humans , Male , Female , Infant, Newborn , Infant, Premature , Intensive Care Units, Neonatal , Genetic Diseases, Inborn , Sucking Behavior , Abnormalities, Multiple , Cross-Sectional Studies , Enteral Nutrition , Speech, Language and Hearing Sciences , Electronic Health Records
10.
Oncología (Guayaquil) ; 33(1): 1-17, 4 de Abril 2023.
Article in Spanish | LILACS | ID: biblio-1427717

ABSTRACT

El cáncer de mama es la causa más común de muerte por cáncer en el mundo, y la resistencia a los medicamentos es una de las barreras más importantes para el éxito de la terapia de la enfermedad. Es fundamental tener una comprensión sólida de los procesos moleculares que impulsan la resistencia al tratamiento en el cáncer de mama para diseñar terapias dirigidas con el potencial de superar esta resistencia. Estos mecanismos son complejos y multifacéticos e incluyen la activación de vías de señalización que promueven la supervivencia y proliferación celular, la regulación positiva de las bombas de salida de fármacos, la aparición de células madre cancerosas y cambios genéticos y epigenéticos. Esta revisión de la literatura brinda una descripción general de estos mecanismos y analiza las posibles estrategias para superar la resistencia a los medicamentos en el cáncer de mama, incluido el uso de terapias dirigidas que se dirigen específicamente a las vías y los mecanismos involucrados en la resistencia a los medicamentos. La revisión también destaca la necesidad de más investigación para identificar estrategias efectivas para superar la resistencia a los medicamentos y mejorar los resultados del tratamiento en pacientes con cáncer de mama.


Breast cancer is the most common cause of death from cancer in the world, and drug resistance is one of the most significant barriers to successful therapy for the disease. It is critical to have a solid understanding of the molecular processes driving treatment resistance in breast cancer to design targeted therapies with the potential to overcome this resistance. These complex and multifaceted mechanisms include the activation of signaling pathways that promote cell survival and proliferation, the upregulation of drug efflux pumps, the emergence of cancer stem cells, and genetic and epigenetic changes. This literature review provides an overview of these mechanisms. It discusses potential strategies for overcoming drug resistance in breast cancer, including targeted therapies that specifically target the pathways and mechanisms involved in drug resistance. The review also highlights the need for further research to identify effective strategies for overcoming drug resistance and improving treatment outcomes in breast cancer patients.


Subject(s)
Breast Neoplasms , Molecular Mechanisms of Pharmacological Action , Neoplastic Stem Cells , Signal Transduction , Genetic Diseases, Inborn
11.
Rev. bras. ginecol. obstet ; Rev. bras. ginecol. obstet;45(2): 74-81, Feb. 2023. tab, graf
Article in English | LILACS | ID: biblio-1449703

ABSTRACT

Abstract Objective The present study evaluated the profile of germline mutations present in patients who underwent genetic counseling for risk assessment for breast cancer (BC), ovarian cancer (OC), and endometrial cancer (EC) with a possible hereditary pattern. Methods Medical records of 382 patients who underwent genetic counseling after signing an informed consent form were analyzed. A total of 55.76% of patients (213/382) were symptomatic (personal history of cancer), and 44.24% (169/382) were asymptomatic (absence of the disease). The variables analyzed were age, sex, place of birth, personal or family history of BC, OC, EC, as well as other types of cancer associated with hereditary syndromes. The Human Genome Variation Society (HGVS) nomenclature guidelines were used to name the variants, and their biological significance was determined by comparing 11 databases. Results We identified 53 distinct mutations: 29 pathogenic variants, 13 variants of undetermined significance (VUS), and 11 benign. The most frequent mutations were BRCA1 c.470_471delCT, BRCA1 c.4675 + 1G > T, and BRCA2 c.2T> G. Furthermore, 21 variants appear to have been described for the first time in Brazil. In addition to BRCA1/2 mutations, variants in other genes related to hereditary syndromes that predispose to gynecological cancers were found. Conclusion This study allowed a deeper understanding of the main mutations identified in families in the state of Minas Gerais and demonstrates the need to assess the family history of non-gynecological cancer for risk assessment of BC, OC, and EC. Moreover, it is an effort that contributes to population studies to evaluate the cancer risk mutation profile in Brazil.


Resumo Objetivo O presente estudo avaliou o perfil de mutações germinativas presentes em pacientes submetidas a aconselhamento genético para avaliação de risco para câncer de mama (CM), câncer de ovário (OC) e câncer de endométrio (CE) com possível padrão hereditário. Métodos Foram analisados os prontuários de 382 pacientes que realizaram aconselhamento genético após consentimento informado. Um total de 55,76% dos pacientes (213/382) eram sintomáticos (história pessoal de câncer), e 44,24% (169/382) eram assintomáticos (ausência da doença). As variáveis analisadas foram idade, sexo, naturalidade, história pessoal ou familiar de CM, OC, CE bem como outros tipos de câncer associados a síndromes hereditárias. As diretrizes de nomenclatura da Human Genome Variation Society (HGVS) foram usadas para nomear as variantes e seu significado biológico foi determinado pela comparação de 11 bancos de dados. Resultados Identificamos 53 mutações distintas: 29 variantes patogênicas, 13 variantes de significado indeterminado e 11 benignas. As mutações mais frequentes foram BRCA1 c.470_471delCT, BRCA1 c.4675 + 1G > T e BRCA2 c.2T > G. Além disso, 21 variantes parecem ter sido descritas pela primeira vez no Brasil. Além das mutações BRCA1/2, foram encontradas variantes em outros genes relacionados a síndromes hereditárias que predispõem a cânceres ginecológicos. Conclusão Este estudo permitiu conhecer melhor as principais mutações identificadas nas famílias do estado de Minas Gerais e demonstra a necessidade de avaliar a história familiar de câncer não ginecológico para avaliação do risco de CM, OC e CE. Além disso, é um esforço que contribui com estudos populacionais para avaliar o perfil de mutações de risco para câncer no Brasil.


Subject(s)
Humans , Female , Breast Neoplasms/prevention & control , Risk Factors , Endometrial Neoplasms/prevention & control , Genetic Counseling , Genital Neoplasms, Female/prevention & control , Genetic Diseases, Inborn
12.
Singap. med. j ; Singap. med. j;: 7-16, 2023.
Article in English | WPRIM | ID: wpr-969660

ABSTRACT

There are more than 7,000 paediatric genetic diseases (PGDs) but less than 5% have treatment options. Treatment strategies targeting different levels of the biological process of the disease have led to optimal health outcomes in a subset of patients with PGDs, where treatment is available. In the past 3 decades, there has been rapid advancement in the development of novel therapies, including gene therapy, for many PGDs. The therapeutic success of treatment relies heavily on knowledge of the genetic basis and the disease mechanism. Specifically, gene therapy has been shown to be effective in various clinical trials, and indeed, these trials have led to regulatory approvals, paving the way for gene therapies for other types of PGDs. In this review, we provide an overview of the treatment strategies and focus on some of the recent advancements in therapeutics for PGDs.


Subject(s)
Child , Humans , Genetic Diseases, Inborn/therapy , Genetic Therapy
13.
Montevideo; [s.n.]; 2023. 109 p. ilus.
Monography in Spanish | LILACS, UY-BNMED, BNUY | ID: biblio-1524295
14.
Article in English | LILACS | ID: biblio-1517022

ABSTRACT

Galloway­Mowat syndrome (GAMOS) is a rare hereditary disease manifested as a combination of nephrotic syndrome and central nervous system impairment. To date, many GAMOS cases attributed to various gene mutations have been reported such as WHAMM, NUP107, WDR73, OSGEP, and TP53RK. We detected two novel homozygous mutations of WDR73 ''NM_032856:c.G287A:p.R96K'' and TP53RK ''NM_033550:c.A193O:p.K65Q'' in two female kids of the consanguineous parents from different families using whole exome sequencing. Both patients almost manifested similar neurodegenerative phenotypes, including developmental delay, microcephaly, hypotonia, and brain atrophy on magnetic resonance imaging during infancy. WDR73-positive GAMOS case manifested a lateonset minimal nephrotic syndrome at the age 4 years while TP53RK-positive case presented nephrotic syndrome at the age 1 which progressed to steroid-resistant nephrotic syndrome due to lack of remission after 4-6 weeks of initial treatment with prednisone. Despite the brain abnormalities and the onset time difference of renal abnormalities, both patients are still alive. Given the heterogeneity of the renal phenotype among GAMOS types, accurate recognition of expanding spectrum of phenotype findings and regular renal function screening are necessary for an early diagnosis and timely treatment


A síndrome de Galloway-Mowat (GAMOS) é uma doença hereditária rara que se manifesta como uma combinação de síndrome nefrótica e comprometimento do sistema nervoso central. Até o momento, foram relatados muitos casos de GAMOS atribuídos a várias mutações genéticas, como WHAMM, NUP107, WDR73, OSGEP e TP53RK. Detectamos duas novas mutações homozigóticas de WDR73 ''NM_032856:c.G287A:p.R96K'' e TP53RK ''NM_033550:c.A193O:p.K65Q'' em duas crianças do sexo feminino, de pais consanguíneos de diferentes famílias usando o exoma completo de sequenciamento. Ambos os pacientes manifestaram fenótipos neurodegenerativos semelhantes, incluindo atraso no desenvolvimento, microcefalia, hipotonia e atrofia cerebral por ressonância magnética durante a infância. O caso GAMOS positivo para WDR73 manifestou síndrome nefrótica mínima de início tardio aos quatro anos de idade, enquanto o caso positivo para TP53RK apresentou síndrome nefrótica com um ano de idade, que progrediu para síndrome nefrótica resistente a esteroides devido à falta de remissão após quatro a seis semanas de tratamento inicial com prednisona. Apesar das anormalidades cerebrais e da diferença de tempo de início das anormalidades renais, ambos os pacientes ainda estão vivos. Dada a heterogeneidade do fenótipo renal entre os tipos de GAMOS, o reconhecimento preciso do espectro em expansão dos achados fenótipos e a triagem regular da função renal são necessários para um diagnóstico precoce e tratamento oportuno


Subject(s)
Genetic Diseases, Inborn , Mutation/genetics
15.
Kisangani méd. (En ligne) ; 13(2): 658-668, 2023. figures, tables
Article in French | AIM | ID: biblio-1577534

ABSTRACT

Introduction: Sickle cell disease is the most common hereditary hemoglobin disorder in the world, particularly in sub-Saharan Africa. The aim of this study was to describe the clinical presentation and management challenges of sickle cell disease in the towns of Beni and Butembo, in North Kivu province. Method: We conducted a descriptive study of patients aged 3 months to 17 years with suspected sickle cell disease from August 1, 2021 to January 31, 2022 in the towns of Beni and Butembo. The following variables were systematically collected: sociodemographic data, nutritional status, medical history, level of education, current treatments, and diagnosis. Diagnosis was confirmed by HemoTypeSCTM (a rapid diagnostic test). Results: Of 157 participants, 58 (36.9%) were homozygous, including 23 boys (40%) and 35 girls (60%). Dactylitis was the most frequent initial sign (43.1%). In the medical history, 76% had received at least one blood transfusion; 93.1% had had at least one vaso-occlusive crisis and 70.7% recurrent infections. The most frequent clinical findings were: undernutrition (86.2%), hepatomegaly (67.2%), jaundice (44.8%), facial dysmorphia (10.3%) and splenomegaly (8.6%). In terms of management, 95% of eligible patients were not on penicillin prophylaxis, 5.2% were taking regular hydroxyurea, while 37.9% were taking daily folic acid and 15% were adhering to the recommended lifestyle and diet. Conclusion: Sickle cell disease is an important but little-known problem in Beni and Butembo, in the Democratic Republic of Congo. The clinical course of patients is compromised by an often late diagnosis and non-standardized management


Introduction : La drépanocytose est la maladie héréditaire de l'hémoglobine la plus répandue dans le monde, en particulier en Afrique subsaharienne. Cette étude visait à décrire la présentation clinique et les défis de la prise en charge de la drépanocytose dans les villes de Beni et Butembo, en province du Nord-Kivu. Méthode : Nous avons mené une étude descriptive auprès des patients âgés de 3 mois à 17 ans suspects de drépanocytose du 1er août 2021 au 31 janvier 2022 dans les villes de Beni et Butembo. Les variables suivantes ont été systématiquement collectées : données sociodémographiques, état nutritionnel, antécédents médicaux, niveau d'éducation, traitements en cours, et diagnostic. Nous avons confirmé le diagnostic par l'HemoTypeSCTM (un test de diagnostic rapide). Résultats : De 157 participants, 58 (36,9%) étaient homozygotes dont 23 garçons (40 %) et 35 filles (60%). La dactylite était le signe initial le plus fréquent (43,1 %). Dans les antécédents médicaux, 76 % avaient reçu au moins une transfusion sanguine ; 93,1 % avaient présenté au moins une crise vaso-occlusive et 70,7 % des infections à répétition. Les constations cliniques les plus fréquentes étaient : la dénutrition (86,2 %), l'hépatomégalie (67,2 %), l'ictère (44,8 %), la dysmorphie faciale (10,3 %) et la splénomégalie (8,6 %). Dans la prise en charge, 95 % des patients éligibles n'étaient pas sous prophylaxie à la pénicilline, 5,2 % prenaient régulièrement de l'hydroxyurée, tandis que 37,9 % prenaient quotidiennement de l'acide folique et 15 % respectaient le mode de vie et le régime recommandés. Conclusion : La drépanocytose est un problème important mais peu connu à Beni et à Butembo, en République Démocratique du Congo. L'évolution clinique des patients est compromise par un diagnostic souvent tardif et une prise en charge non standardisée


Subject(s)
Humans , Male , Female , Therapeutics , Blood Transfusion , Hemoglobins , Nutritional Status , Disease Progression , Malnutrition , Rapid Diagnostic Tests , Genetic Diseases, Inborn , Anemia, Sickle Cell , Jaundice
16.
J. Health Biol. Sci. (Online) ; 10(1): 1-4, 01/jan./2022. ilus
Article in Portuguese | LILACS | ID: biblio-1368288

ABSTRACT

Introdução: Osteogênese Imperfeita (OI) é uma doença genética rara com fragilidade óssea. A classificação inclui muitos tipos. Além do risco de recorrência, o manejo pode variar com o tipo de OI. Relato do caso: Apresentamos um paciente do sexo masculino nascido com 39 semanas, de pais não consanguíneos e saudáveis. A hidrocefalia foi diagnosticada no pré-natal. Com 50 dias de vida, detectamos muitas fraturas e calos ósseos. O teste molecular identificou uma deleção em homozigose do éxon 4 do gene WNT1. Considerações finais: Concluímos que o caso apresentado tinha características clínicas de OI XV, e o teste molecular foi fundamental para o diagnóstico preciso e aconselhamento genético.


Introduction: Osteogenesis Imperfecta (OI) is a rare genetic disease with bone fragility. The classification includes many types. In addition, the risk of a recurrence, the management can vary with the kind of OI. Case report: We report a male patient born at 39 weeks from non-consanguineous healthy parents. The patient was diagnosed with Hydrocephalus at prenatal. At 50 days of life, we detected many fractures and bone calluses. The molecular test identified a homozygous deletion of exon 4 of the WNT1 gene. Final considerations: We conclude this case had clinical features of OI XV, and the molecular test was fundamental for the precise diagnosis and the genetic counseling.


Subject(s)
Humans , Male , Child, Preschool , Osteogenesis Imperfecta/diagnosis , Osteogenesis , Prenatal Care , Infant, Premature , Fractures, Bone , Genetic Counseling , Genetics , Genetic Diseases, Inborn , Hydrocephalus
17.
Rev. cuba. anestesiol. reanim ; 21(3): e828, sept.-dic. 2022.
Article in Spanish | LILACS, CUMED | ID: biblio-1408170

ABSTRACT

El angioedema hereditario (AEH) es una enfermedad genética poco frecuente debida a una mutación de transmisión autosómica dominante que produce una alteración del gen que codifica la proteína inhibidora de la C1 esterasa activada (C1-INH), provoca un déficit o disfunción de la misma. Se caracteriza por episodios recurrentes y autolimitados con síntomas transitorios de hinchazón sin urticaria de tejidos subcutáneos, extremidades, pared intestinal, genitales y vías respiratorias superiores. La afectación de laringe y glotis puede ocasionar la muerte por asfixia. Se informa la conducción perioperatoria en una paciente portadora de AEH y un amplio historial de alergias donde las principales consideraciones están relacionadas con la prevención de una crisis aguda durante el perioperatorio. Para lograrlo se requirió de una preparación con plasma fresco congelado (PFC) y ácido tranexámico (ATX) con días de antelación a la cirugía que se continuó en el posoperatorio, además de un manejo cuidadoso durante el acto anestésico(AU)


Hereditary angioedema (HAE) is a rare genetic disease caused by an autosomal dominant mutation that results in an alteration of the gene encoding the activated C1 esterase inhibitor protein (C1-INH), causing deficiency or dysfunction of C1-INH. It is characterized by recurrent and self-limited episodes with transient symptoms of swelling without urticaria of subcutaneous tissues, extremities, intestinal wall, genitalia and upper respiratory tract. Involvement of the larynx and glottis may result in death by asphyxia. The perioperative managment is reported of a patient with HAE and a long history of allergies in which the main considerations are related to the prevention of an acute crisis during the perioperative period. This required a preparation with fresh frozen plasma and tranexamic acid days before surgery, which was continued postoperatively, in addition to careful management during the anesthetic procedure(AU)


Subject(s)
Humans , Female , Angioedemas, Hereditary , Genetic Diseases, Inborn , Anesthesia
18.
Biomédica (Bogotá) ; Biomédica (Bogotá);42(3): 429-434, jul.-set. 2022. tab
Article in Spanish | LILACS | ID: biblio-1403593

ABSTRACT

La distonía por mutación en el gen KMT2B es un subtipo recientemente descrito del inicio focal de la enfermedad en los miembros inferiores que, posteriormente, evoluciona a una forma generalizada con compromiso cervical y orofaríngeo, disartria, trastorno secundario de la deglución y discapacidad intelectual. Se describe el caso de una escolar de 10 años de edad, sin antecedentes de consanguinidad ni historia familiar de enfermedad neurológica, que presentó alteración de la marcha y distonía de inicio focal, de curso progresivo a una forma generalizada que afectó sus músculos orofaciales y bulbares con alteración significativa del lenguaje y la deglución. Los estudios metabólicos y sistémicos, incluidas las neuroimágenes, no evidenciaron anormalidades. Se hizo una secuenciación genómica completa y se identificó una nueva variante, probablemente patogénica heterocigota, en el gen KMT2B, la c.1205delC, p.(Pro402Hisfs*5), que causa desplazamiento en el marco de lectura. Este hallazgo explica el fenotipo de la paciente y la distonía de inicio temprano autosómica dominante. Se reporta una nueva mutación heterocigota del gen KMT2B como causa de distonía generalizada de inicio temprano, no reportada en la literatura especializada hasta el momento. El diagnóstico de esta afección tiene implicaciones en el tratamiento y el pronóstico de los pacientes, porque las estrategias terapéuticas tempranas pueden prevenir su rápido deterioro y un curso más grave de la enfermedad.


Introduction: KMT2B-related dystonia is a recently described subtype of focal-onset dystonia in the lower limbs, evolving into a generalized form with cervical, oropharyngeal involvement, dysarthria, swallowing disorder and intellectual disability. Clinical case: We describe the case of a 10-year-old female patient, without a history of consanguinity or neurological disease. She manifested abnormal gait and dystonia with focal onset and progressive course with evolution into generalized dystonia, affecting orofacial and bulbar muscles, significant alteration of language and swallowing. Metabolic and systemic studies, including neuroimaging, were found to be normal. A complete genomic sequencing study was performed identifying a new, probably pathogenic, heterozygous variant in the KMT2B gene, c.1205delC, p. (Pro402Hisfs*5), causing displacement in the reading frame, a finding that explains the patient's phenotype and it is associated to autosomal dominant childhood-onset dystonia-28. Conclusion: We report a new heterozygous mutation in the KMT2B gene as a cause of generalized early-onset dystonia not reported in the literature until the date. The diagnosis of this pathology has implications for the treatment and prognosis of patients, given that therapeutic strategies implemented early can prevent the fast deterioration and severe course of this disease.


Subject(s)
Dystonia , Genetic Diseases, Inborn , Dystonic Disorders , Deep Brain Stimulation , Intellectual Disability , Movement Disorders
19.
Rev. cuba. reumatol ; 24(2): e1002, mayo.-ago. 2022. tab, graf
Article in Spanish | LILACS, CUMED | ID: biblio-1409213

ABSTRACT

La enfermedad de Rendu-Osler-Weber, también conocido como telangiectasia hemorrágica hereditaria, es una enfermedad genética de herencia autosómica dominante con penetrancia incompleta. Afecta por igual a ambos sexos y los síntomas se inician habitualmente entre los 20 y 40 años, pero se considera que la enfermedad está infradiagnosticada. Típicamente las formas clínicas y el debut de esta enfermedad se asocian a los órganos y tejidos que se afectan con mayor frecuencia: telangiectasias en mucosas y en piel, epistaxis, sangramiento gastrointestinal, pulmonar e intracerebral. En contraste, el caso clínico que se presenta se caracteriza porque las primeras manifestaciones clínicas que motivaron la consulta médica fueron crisis de dolores e inflamación ósea en el miembro superior derecho, lo cual es inusual y se inscribe como un elemento de novedad en la enfermedad. Es el objetivo de esta publicación exponer un caso de telangiectasia hemorrágica hereditaria con una forma de presentación atípica en una adolescente. Al alta hospitalaria, la paciente estaba estable, sin complicaciones. Se recomendó seguimiento hospitalario fundamentalmente por la especialidad de Neumología, por ser los pulmones los órganos más afectados(AU)


Rendu-Osler-Weber´s disease, also known as hereditary hemorrhagic telangiectasia, is a genetic disease of autosomal dominant inheritance with incomplete penetrance. It affects both sexes equally and symptoms usually begin between the ages of 20 and 40, but it is considered that the disease is underdiagnosed. Typically, the clinical forms and the onset of this disease are associated with the organs and tissues that are most frequently affected: mucosal and skin telangiectasias, epistaxis, gastrointestinal, pulmonary and intracerebral bleeding. In contrast, the clinical case that is presented is characterized because the first clinical manifestations that motivated the medical consultation were crises of pain and bone inflammation in the right upper limb, which is unusual and is inscribed as an element of novelty in the disease. The objective of this publication is to present a case of hereditary hemorrhagic telangiectasia with an atypical presentation in a female teenager(AU)


Subject(s)
Humans , Female , Adolescent , Genetic Diseases, Inborn/prevention & control , Telangiectasia, Hereditary Hemorrhagic/diagnosis
20.
Rev. cuba. med. gen. integr ; 38(2): e1598, abr.-jun. 2022. tab
Article in Spanish | LILACS, CUMED | ID: biblio-1408692

ABSTRACT

Introducción: La ecografía prenatal en el Programa de Prevención de Enfermedades Genéticas permite la detección precoz de malformaciones congénitas y mejora la calidad de vida de la madre y su familia. Objetivo: Conocer la frecuencia de malformaciones congénitas diagnosticadas en el Centro de Genética de Marianao y compararla con las estadísticas nacionales e internacionales. Métodos: Estudio retrospectivo, descriptivo y observacional. Se cuantificaron 203 malformaciones diagnosticadas entre 2007 y 2017 en el Centro de Genética de Marianao. Se consideraron como variables la edad materna, la edad gestacional del diagnóstico, la frecuencia por años y los tipos de malformaciones por sistemas. Resultados: En 13 307 nacimientos se diagnosticaron 203 fetos malformados (1,52 por ciento) a una edad gestacional media de 20,15 semanas. Las malformaciones más frecuentes fueron neurológicas (27,1 por ciento) y cardiovasculares (16,2 por ciento). En las madres adolescentes predominaron las cardiovasculares (27,3 por ciento) y digestivas (16,2 por ciento en las madres añosas, las cromosómicas (57,1 por ciento). Antes de la semana 17 se diagnosticaron malformaciones digestivas (41,7 por ciento) y neurológicas (40 por ciento); entre las 18 y 21 semanas, las esqueléticas (41,2 por ciento); entre las 22 y 26 semanas, cardiovasculares (66,7 por ciento) y cromosómicas (52,4 por ciento) y, después de la semana 27, las renales (9 por ciento. Conclusión: Predominaron las malformaciones neurológicas y cardiovasculares. La edad materna media fue superior en las malformaciones cromosómicas y menor en las digestivas y cardiovasculares. En el primer marcador del programa se diagnosticó la mayoría de las malformaciones digestivas y neurológicas; y en el segundo marcador, las cardiovasculares, cromosómicas y esqueléticas(AU)


Introduction: Prenatal ultrasound in the Genetic Disease Prevention Program allows early detection of congenital malformations and improves the quality of life of the mother and her family. Objective: To know the frequency of congenital malformations diagnosed at the Genetics Center of Marianao Municipality, Havana, Cuba, and to compare it with national and international statistics. Methods: Retrospective, descriptive and observational study. A total of 203 malformations diagnosed between 2007 and 2017 at the Genetics Center of Marianao were quantified. Maternal age, gestational age at diagnosis, frequency by years and types of malformations by systems were considered as variables. Results: In 13,307 births, 203 malformed fetuses were diagnosed (1.52 percent), at a mean gestational age of 20.15 weeks. The most frequent malformations were neurological (27.1 percent) and cardiovascular (16.2 percent). Cardiovascular (27.3 percent) and digestive (16.2 percent) malformations predominated in adolescent mothers, while chromosomal malformations predominated in older mothers (57.1 percent). Before the seventeenth week, digestive (41.7 percent) and neurological (40 percent) alformations were diagnosed; between the eighteenth and twenty-first weeks, skeletal (41.2 percent) malformations were diagnosed; between the twenty-second and twenty-sixth weeks, cardiovascular (66.7 percent) and chromosomal (52.4 percent) malformations were diagnosed; and after the twenty-seventh week, renal (9 percent) malformations were diagnosed. Conclusion: Neurological and cardiovascular malformations prevailed. The mean maternal age was higher in chromosomal malformations, and lower in digestive and cardiovascular malformations. Most of the digestive and neurological malformations were diagnosed in the first marker of the Program, while cardiovascular, chromosomal and skeletal malformations were diagnosed in the second marker(AU)


Subject(s)
Humans , Female , Pregnancy , Genetic Diseases, Inborn/prevention & control , Epidemiology, Descriptive , Retrospective Studies , Ultrasonography, Prenatal/methods , Observational Study
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