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1.
Rev. bras. neurol ; 57(3): 29-31, jul.-set. 2021. tab
Article in English | LILACS | ID: biblio-1342523

ABSTRACT

Chromosome 5p13 duplication syndrome represents a contiguous gene syndrome involving duplication of several genes on chromosome 5p13. Some clinical phenotypes are related to it, such as: obsessive-compulsive behavior, small palpebral fissures, intellectual disability, global development delay and ocular hypertelorism. The exact mechanism behind these changes has not well known and further studies are needed for this purpose. Since it is a rare and uncommon clinical situation, the case report contributes to the knowledge of the disease and early diagnosis. This condition mainly affects the cognitive neuromuscular system. We describe an 8-year-old Brazilian patient with the duplication of chromosome 5p13.2, karyotype, whose neurodevelopmental evaluation presented cognitive impairment, severe language delay and atypical physical examination, with ocular hypertelorism, right auricular tags, congenital heart defect and long fingers. The patient was diagnosed by comparative genomic hybridization (CGH)-array revealing a 204Kb of DNA duplication. The exact mechanism behind these structural disorders is still unclear and further studies are needed for this purpose. Nevertheless, the diagnostic suspicion of this genetic alteration that, in general, presents late diagnosis, should be considered to enable better clinical support to the patients and family genetic counseling.


A síndrome da duplicação do cromossomo 5p13 representa uma síndrome genética contígua envolvendo a duplicação de vários genes contidos nesta região. Alguns fenótipos clínicos estão relacionados com ela, tais como: comportamento obsessivo compulsivo, fissuras palpebrais pequenas, déficit intelectual, atraso no desenvolvimento global e hipertelorismo ocular. Por ser uma situação clínica rara, o relato do caso contribui para a disseminação do conhecimento acerca da condição, assim como para seu diagnóstico precoce. Descrevemos uma paciente brasileira de oito anos com a duplicação do cromossomo 5p13.2, que na avaliação do neurodesenvolvimento apresentou comprometimento cognitivo, grave atraso da linguagem e dismorfismos como hipertelorismo ocular, apêndice auricular direito, sopro cardíaco, relacionado a defeito do septo ventricular, e dedos alongados. A paciente foi diagnosticada por meio da pesquisa molecular (CGH)-array com ganho de 204Kb de DNA. O mecanismo exato por trás dessas alterações estruturais ainda não está claro e são necessários mais estudos para este fim. Não obstante, a suspeita diagnóstica dessa alteração genética que, em geral, apresenta diagnóstico tardio, deve ser aventada para viabilizar melhor suporte clínico aos pacientes e aconselhamento genético familiar.


Subject(s)
Humans , Female , Child , Segmental Duplications, Genomic , Chromosome Duplication/genetics , Genetic Testing/methods , Cognition Disorders/diagnosis , Failure to Thrive , Comparative Genomic Hybridization , Language Development Disorders/diagnosis
2.
Biomédica (Bogotá) ; 41(3): 541-554, jul.-set. 2021. tab, graf
Article in English | LILACS | ID: biblio-1345402

ABSTRACT

Abstract Introduction: According to the World Health Organization (WHO) global estimates for 2017, 9.6% of children under 5 years old are stunted. Worldwide evidence shows that actions for preventing stunting and catching-up growth are relevant if addressed by all the sectors involved. Therefore, there is a need to identify 'intersectoral actions' to address the risk of stunting during pregnancy and the first 2 years of life. Objective: To identify and describe worldwide evidence for prevention, nutritional interventions, and 'intersectoral collaboration' efforts against stunting in infants. Materials and methods: We conducted a systematic review in 2019 (PROSPERO CRD42019134431). The search included PubMed, OVID, and Web of Science, as well as WHO and the Food and Agriculture Organization of the United Nations (FAO) official documents and expert recommendations. Results: We selected 231 studies: 86.1% described prevention-related factors, 30.7%, nutritional interventions, and 52.8% intersectoral collaboration efforts; 36.4% of the studies were conducted in multiple regions; 61% of the studies described the importance of interventions during pregnancy, 71.9% from birth up to 6 months old, and 84.8% from 6 months up to 2 years old. The most frequent variables described were antenatal care, nutritional counseling for the mother and the newborn, and counseling on micronutrient supplementation. Conclusions: Evidence-based understanding of actions geared towards monitoring the risk of stunting-associated factors from pregnancy up to 2 years old is critical.


Resumen Introducción. Según estimaciones mundiales de la Organización Mundial de la Salud (OMS) para el 2017, el 9,6 % de los niños menores de cinco años padecen retraso del crecimiento. La evidencia mundial ha demostrado que las acciones para prevenir el retardo del crecimiento o para tratarlo adquieren relevancia si las abordan todos los sectores involucrados. Por lo tanto, es necesario determinar las acciones intersectoriales para atender el riesgo de retraso del crecimiento durante el embarazo y los dos primeros años de vida. Objetivo. Rastrear y describir la evidencia mundial para la prevención, las intervenciones nutricionales y los esfuerzos de colaboración intersectorial contra el retraso del crecimiento en los lactantes. Materiales y métodos: Se hizo una revisión sistemática en el 2019 (PROSPERO CRD42019134431). La búsqueda incluyó PubMed, OVID y Web of Science, así como documentos oficiales de la OMS y la Organización para la Agricultura y la Alimentación de Naciones Unidas (FAO) y recomendaciones de expertos. Resultados. Se seleccionó un total de 231 estudios: 86,1 % describían factores relacionados con la prevención, 30,7 %, intervenciones nutricionales, y 52,8 %, esfuerzos de colaboración intersectorial; 36,4 % de ellos se llevaron a cabo en múltiples regiones. Del total, el 61 % de los estudios se enfocaba en la importancia de las intervenciones durante el embarazo, el 71,9 % desde el nacimiento hasta los seis meses y el 84,8 % desde los seis meses hasta los dos años. Las variables descritas con mayor frecuencia fueron la atención prenatal, el asesoramiento nutricional para la madre y el recién nacido, y el asesoramiento sobre la suplementación con micronutrientes. Conclusiones. La comprensión basada en la evidencia de las acciones orientadas a monitorear el riesgo de factores asociados al retraso del crecimiento desde el embarazo hasta los dos años, es fundamental.


Subject(s)
Child Development , Failure to Thrive , Primary Prevention , Health Status Indicators , Intersectoral Collaboration , Malnutrition
3.
Arch. argent. pediatr ; 119(2): e171-e175, abril 2021. ilus
Article in Spanish | LILACS, BINACIS | ID: biblio-1152122

ABSTRACT

Los tumores del sistema nervioso central representan la segunda enfermedad oncológica más habitual en niños y adolescentes. Entre los tumores intracraneales, los de células germinales son infrecuentes. Los síntomas que desencadenan son cefalea, náuseas, vómitos, déficits hormonales, alteraciones visuales, pérdida de peso, pobre crecimiento y pubertad precoz. Menos frecuentemente, producen trastornos del movimiento o psiquiátricos. Algunos de estos tumores pueden ser asintomáticos un largo período, lo que desencadena un diagnóstico tardío.Se presenta a una paciente femenina de 14 años con pérdida de peso y falla del crecimiento, con diagnóstico erróneo de trastorno de la conducta alimentaria. Tras estudios pertinentes, se arribó al diagnóstico de germinoma del sistema nervioso central. Al ser esta patología infrecuente y de presentación variable, requiere alto sentido de alerta por parte de la familia involucrada y del equipo de salud para evitar retrasos en el diagnóstico y el tratamiento


Central nervous system tumors are the second most frequent oncological disease among children and teenagers. Among the intracranial tumors, the germ cells ones are infrequent. The symptoms they cause are headaches, nausea and vomiting, hormonal deficits, visual disturbances, weight loss, poor growth and early puberty. Less frequently, they produce movement or psychiatric disorders. Some of these tumors can be asymptomatic for a long period leading to a late diagnosis.The case of a 14-year-old female patient is presented. She showed weight loss and growth failure, with wrong diagnosis of eating disorder. After proper study methods, we arrived to central nervous system germinoma diagnosis. Because this pathology is rare and has a variable form of presentation, it requires that the family involved and the health team to be alert, to avoid delays in diagnosis and treatment.


Subject(s)
Humans , Female , Adolescent , Germinoma/diagnostic imaging , Brain Neoplasms , Weight Loss , Germinoma/therapy , Failure to Thrive , Hypopituitarism
4.
Article in Portuguese | LILACS | ID: biblio-1359762

ABSTRACT

RESUMO: O hipopituitarismo é a deficiência de dois ou mais hormônios hipofisários, que se expressa por sintomas dependentes do tipo e grau de déficit hormonal. A adequada condução destes pacientes é de fundamental importância para que não acarrete atraso no crescimento e desenvolvimento, óbito ou mudanças na qualidade de vida dos indivíduos. Objetiva-se, neste estudo, relatar caso clínico de abordagem de paciente pediátrico com pan-hipopituitarismo e descrever o manejo adotado, bem como a importância do acompanhamento pelo endocrinologista pediátrico. Trata-se de paciente do sexo masculino, 14 anos, com pan-hipopituitarismo iniciado na infância, secundário ao surgimento de germinoma e ao tratamento realizado para o mesmo. A primeira deficiência hormonal apresentada foi diabetes insipidus, seguida, após a realização de quimioterapia e radioterapia, de múltiplas deficiências. O menor segue em acompanhamento especializado, e faz uso de levotiroxina, desmopressina, somatropina, testosterona e prednisolona. A partir do presente relato, percebe-se a importância do diagnóstico oportuno e da adequada abordagem da criança com pan-hipopituitarismo e de seu seguimento a fim de se manter uma qualidade de vida satisfatória. (AU)


ABSTRACT: Hypopituitarism is the deficiency of two or more pituitary hormones. Its symptoms depend on the type and degree of hormonal deficit. Proper care of these patients is of fundamental importance to avoid delay in growth and development, death, or changes in the quality of life. The objective of this study is to report a clinical case of a pediatric patient with pan-hypopituitarism and describe the care adopted, as well as the importance of monitoring by the pediatric endocrinologist. The patient was a 14-year-old boy, with pan-hypopituitarism beginning in childhood, secondary to the appearance of germinoma and the treatment performed for it. The first hormonal deficiency presented was diabetes insipidus, followed by multiple deficiencies after chemotherapy and radiotherapy. The patient is under specialized monitoring and takes levothyroxine, desmopressin, somatropin, testosterone, and prednisolone. From the present report, timely diagnosis and adequate approach to a child with pan-hypopituitarism and its follow-up are important to maintain a satisfactory quality of life. (AU)


Subject(s)
Humans , Male , Adolescent , Pituitary Hormones , Quality of Life , Germinoma , Failure to Thrive , Medication Therapy Management , Transitional Care , Hypopituitarism
5.
Article in Portuguese | LILACS | ID: biblio-1179835

ABSTRACT

Objetivo: documentar de forma sistemática o padrão de desenvolvimento pôndero-estatural de pacientes submetidos à adenoamigdalectomia. Métodos: coleta de dados secundários dos prontuários de pacientes atendidos no ambulatório de Otorrinolaringologia Pediátrica, antes e depois da cirurgia de adenoamigdalectomia. Resultados: de forma individual, os pacientes apresentaram elevação no escore Z e percentis das variáveis ao peso e a altura no período entre as análises. Especificamente em relação ao peso, a média antes do procedimento e quatro meses depois do procedimento foi, respectivamente, de 29,1 kg e 32,8 kg; no que diz respeito à altura, a média foi de 1,22 m e 1,25 m, respectivamente. Ao aplicar o Teste T de Student foi possível notar significância estatística para ambas as variáveis em estudo. Aspecto não percebido ao avaliar os indivíduos reunidos em grupos etários (pré-escolares, escolares e adolescentes). Conclusões: as crianças submetidas à adenoamigdalectomia apresentaram ganho pôndero-estatural após a cirurgia. A atuação cirúrgica diante do diagnóstico da hipertrofia e da hiperplasia das amígdalas e tonsila faríngea deve ser precoce, desde que haja indicação formal, a fim de evitar a manutenção do atraso no crescimento nesses pacientes.


Aims: to systematically document weight and height development in children after adenotonsillectomy. Methods: analysis of secondary data from the Pediatric Otorhinolaryngology clinic patient's medical records before and after adenotonsillectomy. Results: regarding weight, the average before the procedure and four months and the average after the procedure were, respectively, 29.1 kg and 32.8 kg; as regards height, the averages were 1.22 m and 1.25 m, respectively. By applying the Teste T de Student it was possible to notice statistical significance for both variables under study. Conclusions: children exhibited statistically significant weight and height gain after surgery. Surgical treatment should be performed early after the diagnosis of pharyngeal tonsil and tonsils hypertrophy and hyperplasia provided in case of a formal indication in order to avoid the maintenance growth retardation in these patients.


Subject(s)
Humans , Child , Adolescent , Failure to Thrive , Tonsillectomy
6.
Article in English | WPRIM | ID: wpr-880678

ABSTRACT

Cardio-facio-cutaneous (CFC) syndrome is an extremely rare autosomal dominant genetic disease due to BRAF and other gene mutations. The main characteristics of the patients are craniofacial deformities, cardiac malformations, skin abnormalities, delay of language and motor development, gastrointestinal dysfunction, intellectual disability, and epilepsy. In this case, the child has a typical CFC syndrome face and developmental delay. The gene results of the second-generation sequencing technology showed that there was a mutation site c.1741A>G (p. Asn581Asp) (heterozygous) in exon 14 of the BRAF (NM_004333.5) gene. The mutation was not observed in the child's parents. The above-mentioned mutation may be a de novo mutation. There is no effective therapy for this disease so far.


Subject(s)
Abnormalities, Multiple , Child , Ectodermal Dysplasia/genetics , Facies , Failure to Thrive , Heart Defects, Congenital/genetics , Humans , Mutation , Proto-Oncogene Proteins B-raf/genetics
7.
Arch. argent. pediatr ; 118(2): e188-e190, abr. 2020. ilus
Article in Spanish | LILACS, BINACIS | ID: biblio-1100470

ABSTRACT

La invaginación intestinal es la causa más frecuente de obstrucción intestinal entre los 6 y los 36 meses de edad. La mayoría son idiopáticas. Se ha descrito la asociación entre la enfermedad celíaca y la invaginación intestinal en la población pediátrica. Se presenta el caso de un varón de 23 meses ingresado por estancamiento ponderal en cuyo estudio ecográfico se observaron invaginaciones íleo-ileales asintomáticas repetidas.


Intestinal intussusception is the most frequent cause of intestinal obstruction between 6 and 36 months of age, the majority being idiopathic. The association between celiac disease and intestinal intussusception in the pediatric population has been described. We present the case of a 23-month-old male admitted due to a failure to thrive. In his ultrasound study recurrent asymptomatic ileo-ileal invaginations were found


Subject(s)
Humans , Male , Infant , Celiac Disease/diagnosis , Intussusception/diagnostic imaging , Celiac Disease/diet therapy , Failure to Thrive , Diet, Gluten-Free , Intussusception/diet therapy
8.
Rev. Bras. Saúde Mater. Infant. (Online) ; 20(1): 27-35, Jan.-Mar. 2020. tab, graf
Article in English | SES-SP, LILACS, SES-SP | ID: biblio-1136419

ABSTRACT

Abstract Objectives: to estimate the prevalence of maternal overweight and short stature in children at household level in Brazil, Bolivia, Colombia and Peru. Methods: a cross-sectional descriptive study. Population-based studies on children (0-5 years old) and women (15 to 49 years old) who participated in the Pesquisa Nacional de Demografia e Saúde da Criança e da Mulher(National Survey on Children and Women Demography and Health) in Brazil and the Encuesta Nacional de Demografía y Salud, (National Survey on Demography and Health), in Bolivia, Colombia and Peru. Variables of interest: overweight mother and child with short stature, a double burden when both outcomes are present. Global prevalence and stratification, according to rural and urban areas and 95% confidence intervals, were estimated. Results: the global sample consisted of 26,506 households. The prevalence of double burden was 9.3% in Bolivia (CI95%= 8.3-10.4), 6.7% in Peru (CI95%=5.9-7.5), Colombia (3.2%; CI95%=2.8-3.6) and Brazil (2.2%; CI95%=1.4-3.2). The highest prevalence were observed in the rural areas in Bolivia (13% vs 6.5%; p<0.001) and Peru (11.9% vs 4.1%; p<0.001). Conclusions: the highest prevalence were registered in Peru and Bolivia, and the lowest in Brazil and Colombia.


Resumo Objetivos: estimar a prevalência de excesso de peso materno e baixa estatura infantil em nível domiciliar no Brasil, Bolívia, Colômbia e Peru. Métodos: estudo descritivo transversal. Utilizou-se estudos de base populacional de crianças (0-5 anos) e mulheres (15 a 49 anos) que participaram da Pesquisa Nacional de Demografia e Saúde da Criança e da Mulher, no Brasil, e da Encuesta Nacional de Demografía y Salud, na Bolívia, Colômbia e Peru. Variáveis de interesse: mãe com excesso de peso e filho com baixa estatura, sendo dupla carga quando presentes ambos os desfechos. Foi estimada a prevalência global e estratificada por área rural e urbana e os intervalos de confiança de 95%. Resultados: a amostra global foi composta de 26.506 domicílios. As prevalências de dupla carga foram na Bolívia 9,3% (IC95%= 8,3 - 10,4), no Peru 6,7% (IC95%= 5,9 - 7,5), Colômbia (3,2%; IC95%= 2,8 - 3,6) e Brasil (2,2%; IC95%= 1,4 - 3,2). As maiores prevalências foram mostradas nas áreas rurais da Bolívia (13% vs 6,5%; p < 0,001) e do Peru (11,9% vs 4,1%; p < 0,001). Conclusões: as mais altas prevalências foram registradas no Peru e Bolívia, e as menores no Brasil e Colômbia.


Subject(s)
Humans , Female , Infant, Newborn , Infant , Child, Preschool , Adolescent , Adult , Middle Aged , Nutrition Surveys/statistics & numerical data , Health Surveys/statistics & numerical data , Stature by Age , Overweight/epidemiology , Latin America/epidemiology , Peru/epidemiology , Socioeconomic Factors , Bolivia/epidemiology , Brazil/epidemiology , Epidemiology, Descriptive , Cross-Sectional Studies , Colombia/epidemiology , Failure to Thrive , Gestational Weight Gain
9.
Repert. med. cir ; 29(2): 127-130, 2020. Ilus., tab.
Article in English, Spanish | LILACS, COLNAL | ID: biblio-1222615

ABSTRACT

Es una lesión quística que surge del remanente epitelial de la bolsa de Rathke, casi siempre su diagnóstico es un hallazgo incidental ya que en la mayoría de los casos es asintomático. Cuando se manifiesta se debe a que ha aumentado lo suficiente su volumen hasta comprimir estructuras vecinas causando cefalea, alteraciones visuales y disfunción pituitaria. En su mayoría ocurre en adultos entre la cuarta y quinta década de vida. Presentamos el caso de una paciente femenina de 9 años de edad que consultó por talla baja al servicio de endocrinología, por lo cual se inició tratamiento con hormona de crecimiento y se solicitó una resonancia magnética nuclear (RMN) la cual reportó quiste de la bolsa de Rathke versus adenoma hipofisario.


Rathke pouch cysts are epithelium-lined cysts arising from the embryological remnants of Rathke ́s pouch. They are usually incidentally identified since the majority are asymptomatic. They become symptomatic when they enlarge enough to compress neighbor structures causing headache, visual disturbances and pituitary dysfunction. They occur mostly in adults in the fourth to fifth decades of life. A case is presented in a 9-year-old female patient who consulted for growth retardation to the endocrinology service. She was treated with growth hormone and a magnetic resonance imaging (MRI) scan reported Rathke ́s pouch cyst versus pituitary adenoma.


Subject(s)
Female , Child , Pituitary Diseases , Headache , Optic Chiasm , Central Nervous System Cysts , Failure to Thrive
10.
Repert. med. cir ; 29(2): 127-130, 2020. Ilus, tablas
Article in English, Spanish | LILACS, COLNAL | ID: biblio-1147880

ABSTRACT

Es una lesión quística que surge del remanente epitelial de la bolsa de Rathke, casi siempre su diagnóstico es un hallazgo incidental ya que en la mayoría de los casos es asintomático. Cuando se manifiesta se debe a que ha aumentado lo suficiente su volumen hasta comprimir estructuras vecinas causando cefalea, alteraciones visuales y disfunción pituitaria. En su mayoría ocurre en adultos entre la cuarta y quinta década de vida. Presentamos el caso de una paciente femenina de 9 años de edad que consultó por talla baja al servicio de endocrinología, por lo cual se inició tratamiento con hormona de crecimiento y se solicitó una resonancia magnética nuclear (RMN) la cual reportó quiste de la bolsa de Rathke versus adenoma hipofisario.


Rathke pouch cysts are epithelium-lined cysts arising from the embryological remnants of Rathke ́s pouch. They are usually incidentally identified since the majority are asymptomatic. They become symptomatic when they enlarge enough to compress neighbor structures causing headache, visual disturbances and pituitary dysfunction. They occur mostly in adults in the fourth to fifth decades of life. A case is presented in a 9-year-old female patient who consulted for growth retardation to the endocrinology service. She was treated with growth hormone and a magnetic resonance imaging (MRI) scan reported Rathke ́s pouch cyst versus pituitary adenoma.


Subject(s)
Female , Child , Pituitary Diseases , Headache , Optic Chiasm , Central Nervous System Cysts , Failure to Thrive
11.
Article in English | LILACS, INDEXPSI | ID: biblio-1135446

ABSTRACT

Abstract Maternal depression can compromise child development, but little about its effects has been investigated since the pregnancy stage. This longitudinal study aimed to compare, in two moments, the development of children of mothers with depressive symptoms and to identify whether these symptoms and other sociodemographic variables were associated with development at 6 and 14 months. One hundred and thirty nine women answered a questionnaire referring to sociodemographic and birth data and the Beck Depression Inventory, in the third gestational trimester, 6 and 14 months after childbirth. At 6 and 14 months of age, children were assessed using the Denver Developmental Screening Test. There was a high percentage of babies at risk at 6 and 14 months. Depressive symptoms were associated with delays in the development of subareas, but not with overall development. It is believed that the relationship between maternal depression and developmental delay is mediated by other variables that indirectly interfere in the process and would need further investigation.


Resumo Depressão materna pode comprometer o desenvolvimento infantil, mas pouco se investigou seus efeitos desde a fase gestacional. Este estudo longitudinal visou comparar, em dois momentos, o desenvolvimento de filhos de mães com sintomas depressivos e identificar se esses sintomas e outras variáveis sociodemográficas se associaram com o desenvolvimento aos seis e 14 meses. 139 mulheres responderam questionário referente a dados sociodemográficos e de nascimento e Inventário de Depressão de Beck, no terceiro trimestre gestacional, seis e 14 meses pós-parto. Aos seis e 14 meses as crianças foram avaliadas pelo Teste de Triagem do Desenvolvimento de Denver. Observou-se alta porcentagem de bebês em risco aos seis e 14 meses. Sintomas depressivos se associaram com atrasos no desenvolvimento das subáreas, mas não com o desenvolvimento global. Acredita-se que a relação entre depressão materna e atraso no desenvolvimento é mediada por outras variáveis que interferem indiretamente no processo e precisariam maior investigação.


Resumen La depresión materna puede afectar al desarrollo infantil, sin embargo, son pocos los estudios sobre sus efectos desde la etapa del embarazo. Este estudio longitudinal tuvo como objetivo comparar, en dos momentos, el desarrollo de los hijos de madres con síntomas depresivos e identificar la posible asociación de estos síntomas y otras variables sociodemográficas con el desarrollo infantil a los seis y a los 14 meses de edad. Ciento treinta y nueve mujeres respondieron un cuestionario con datos sociodemográficos y de nacimiento y también el Inventario de Depresión de Beck, en el tercer trimestre de gestación, a los seis y a los 14 meses después del parto. A los seis y a los 14 meses de edad, se evaluó a los niños mediante la Prueba de Tamizaje del Desarrollo de Denver. Hubo un alto porcentaje de bebés en riesgo a los seis y a los 14 meses. Los síntomas depresivos no se asociaron a retrasos en el desarrollo total, sino en el desarrollo de subáreas. Se estima que la relación entre depresión materna y retraso en el desarrollo está mediada por otras variables que interfieren indirectamente en el proceso y que necesitan más estudios.


Subject(s)
Humans , Female , Pregnancy Trimester, Third , Child Development , Mental Health , Risk , Surveys and Questionnaires , Depression , Growth and Development , Failure to Thrive , Hospitals, Maternity , Mothers
12.
Article in Chinese | WPRIM | ID: wpr-826531

ABSTRACT

OBJECTIVE@#To explore the genotype-phenotype correlation of Cardio-facio-cutaneous syndrome (CFCS) caused by MAP2K1 gene variants.@*METHODS@#Genomic DNA was extracted from peripheral blood sample from a child patient and his parents. Whole exome sequencing (WES) was carried out for the patient. Suspected variant was verified by Sanger sequencing.@*RESULTS@#The patient was a 1-year-8-month old Chinese male who manifested short stature, psychomotor retardation, relative macrocephaly, distinctive facial features, and congenital heart disease. WES test revealed a heterozygous missense c.389A>G (p.Tyr130Cys) variant in the MAP2K1 gene. Sanger sequencing has confirmed the variant as de novo. According to ACMG/AMP guidelines, the variant was classified as pathogenic.@*CONCLUSION@#Compared with previously reported CFCS cases due to MAP2K1 variants. The patient showed obvious behavioral problems, good appetite and tricuspid regurgitation, which may to be novel features for CFCS.


Subject(s)
China , Ectodermal Dysplasia , Genetics , Facies , Failure to Thrive , Genetics , Genetic Association Studies , Genetic Variation , Heart Defects, Congenital , Genetics , Heterozygote , Humans , Infant , MAP Kinase Kinase 1 , Genetics , Male , Mutation , Whole Exome Sequencing
13.
14.
Archiv. med. fam. gen. (En línea) ; 16(2): 11-18, nov 2019. tab, graf
Article in Spanish | LILACS, InstitutionalDB, BINACIS, UNISALUD | ID: biblio-1343310

ABSTRACT

La evaluación nutricional tiende a promover la salud, sea reduciendo el riesgo o sea controlando los posibles efectos patológicos relacionados con una alimentación excesiva o insuficiente. Durante el mes de marzo de 2018, en el Hospital rural de Tomás Manuel de Anchorena, se llevó a cabo el control anual de salud en niños de 2 a 13 años. Para ello se utilizaron índices antropométricos que puedan relacionarse con estándares de normalidad según edad y sexo (peso/edad, talla/edad, peso/talla, índice de masa corporal) y se definieron los indicadores: desnutrición, bajo peso, acorde, sobrepeso y obesidad. Se examinaron 50 niños/as, residentes habituales, de 2 a 13 años de edad, con una distribución por sexo de 48% niñas y 52% niños. Se organizaron 3 grupos según edad, 2 a 6 años (28%), 6 a 11 años (54%) y 11 a 13 años (18%). Se obtuvo una prevalencia de desnutrición del 8%, 22% se encontraba acorde a su edad y sexo, sobrepeso 22%, y obesidad del 38%. Comparado con datos del Programa Nacional de Salud Escolar (PROSANE 2015), la prevalencia de obesidad en nuestro trabajo supera muy significativamente el valor provincial (17,9%) y nacional (21,4%). No pasa lo mismo con los demás indicadores (AU)


The nutritional evaluation tends to promote health, either by reducing the risk or by controlling the possible pathological effects related to excessive or insufficient feeding. During the month of March 2018, in the rural Hospital of Tomás Manuel de Anchorena, the annual health control was carried out on children aged 2 to 13. For this, anthropometric indices were used that can be related to normality standards according to age and sex (weight / age, height / age, weight / height, body mass index) and the indicators were defined: malnutrition, low weight, overweight and obesity. 50 children, habitual residents, from 2 to 13 years of age, with a gender distribution of 48% girls and 52% boys were examined. 3 groups were organized according to age, 2 to 6 years (28%), 6 to 11 years (54%) and 11 to 13 years (18%). There was a prevalence of malnutrition of 8%, 22% were according to their age and sex, overweight 22%, and obesity with 38%. Compared with data from the National School Health Program (PROSANE 2015), the prevalence of obesity in our work significantly exceeds the provincial (17.9%) and national (21.4%) values. The same does not happen with the other indicators (AU)


Subject(s)
Humans , Male , Female , Child, Preschool , Child , Child Nutrition Disorders/diagnosis , Nutrition Assessment , Nutritional Status , Overweight/diagnosis , Obesity/diagnosis , Anthropometry , Failure to Thrive
15.
Arch. argent. pediatr ; 117(3): 263-269, jun. 2019. ilus, graf, tab
Article in Spanish | LILACS, BINACIS | ID: biblio-1001199

ABSTRACT

La acidosis tubular renal distal es el tipo más frecuente de acidosis tubular renal en pediatría y puede ser hereditario. Se debe a una incapacidad del riñón para excretar iones de hidrógeno, en ausencia de deterioro de la función renal, y ocurre con acidosis metabólica hiperclorémica con brecha aniónica (anion gap) normal. Los síntomas pueden ser retraso del crecimiento, vómitos, estreñimiento, falta de apetito, polidipsia y poliuria, nefrocalcinosis, debilidad y hasta parálisis muscular por la hipokalemia. A menudo, se acompaña de deterioro auditivo neurosensorial. Corregir la acidosis puede tener una variedad de beneficios, como restaurar el crecimiento normal, disminuir la hipokalemia, estabilizar o evitar la nefrocalcinosis y disminuir el riesgo de osteopenia. El diagnóstico oportuno y el tratamiento adecuado de los pacientes hacen que permanezcan asintomáticos y sean capaces de llevar una buena calidad de vida. Se presentan los casos de dos hermanos afectados por acidosis tubular renal distal, su proceso diagnóstico, tratamiento y seguimiento actual.


Distal renal tubular acidosis is the most common type of renal tubular acidosis in pediatrics and can be hereditary. It is due to an inability in the kidney to excrete hydrogen ion (H+), in the absence of deterioration of renal function, and it is accompanied by hyperchloremic metabolic acidosis with normal anion gap. The symptoms can be growth retardation, vomiting, constipation, lack of appetite, polydipsia and polyuria, nephrocalcinosis, weakness and even muscle paralysis due to hypokalemia. It is often accompanied by sensorineural hearing impairment. Correcting acidosis can have a variety of benefits such as restoring normal growth, decreasing hypokalemia, stabilizing or preventing nephrocalcinosis and decreasing the risk of osteopenia. Timely diagnosis and adequate treatment of patients make them remain asymptomatic and able to lead a good quality of life. We present the cases of two siblings affected by distal renal tubular acidosis, its diagnostic process, treatment and current follow-up.


Subject(s)
Humans , Infant, Newborn , Child, Preschool , Acidosis, Renal Tubular , Diagnosis , Failure to Thrive , Nephrocalcinosis
16.
Med. infant ; 26(1): 5-9, Marzo 2019. tab
Article in Spanish | LILACS | ID: biblio-988450

ABSTRACT

El trastorno del espectro autista (TEA) es un trastorno del desarrollo, común de la niñez, con una fuerte predisposición genética y alta heredabilidad. El riesgo de recurrencia en hermanos oscila entre 10-20% y en caso de familias con dos o más niños afectados el riesgo de recurrencia aumenta hasta un 35%. Dentro de las pruebas complementarias para el diagnóstico, el gold standard es la escala ADOS, existe además una prueba de pesquisa, el M-CHAT. Objetivo: evaluar riesgo de recurrencia de TEA en hermanos menores de niños con diagnóstico de TEA. Materiales y Métodos: se realizó un estudio de tipo transversal, observacional y descriptivo. Fueron estudiados niños entre 18-36 meses, hermanos de pacientes con diagnóstico de TEA. La evaluación del desarrollo se realizó utilizando: Escalas CAT/CLAMS, M-CHAT y ADOS 2. Resultados: se estudiaron 39 hermanos. 25 fueron varones y 14 fueron mujeres. Se identificaron 5 niños con diagnóstico de TEA, por lo que el riesgo de recurrencia en la población estudiada fue de 13%, con una relación varón/mujer de 4/1. Del resto de la población estudiada, 13% reunieron criterios para fenotipo ampliado del autismo (Broader Autism Phenotype ­BAP­ en su sigla en inglés), 31% presentaron retraso del lenguaje(RL) y 7%retraso global del desarrollo (RGD). Solo el 36% presentó desarrollo típico. Conclusión: Los hermanos de niños afectados representan un grupo de riesgo para problemas del desarrollo, que debe ser tenido en cuenta por los profesionales de la salud que siguen longitudinalmente a niños con diagnóstico confirmado de TEA (AU)


Autism spectrum disorder (ASD) is a developmental disorder that is common in childhood with a strong genetic predisposition and high heritability. The risk of recurrence in siblings is found to be between 10-20% and in families with two or more affected children recurrence risk is as high as 35%. Among the complementary diagnostic tests, the gold standard is the ADOS scale, and additionally the M-CHAT screening test. Objective: To evaluate the recurrence risk of ASD in younger siblings of children diagnosed with ASD. Material and Methods: A cross-sectional, observational, descriptive study was conducted. Children between 18- 36 months of age, siblings of children diagnosed with ASD were studied. Development was assessed using the CAT/CLAMS, MCHAT, and ADOS 2 scales. Results: 39 siblings were studied; 25 were male and 14 female. Five children with ASD were identified, accounting for a recurrence risk of 13% in the study population and a male/female ratio of 4/1. Of the remaining children, 13% met the criteria for the broader autism phenotype (BAP), 31% had language delay (LD), and 7% global developmental delay (GDD). Only 36% had normal development. Conclusion: Siblings of affected children are at risk for developmental disorders that should be taken into account by health professionals that ongitudinally follow children with a confirmed diagnosis of ASD (AU)


Subject(s)
Humans , Infant , Child, Preschool , Recurrence , Siblings , Autism Spectrum Disorder/diagnosis , Neuropsychological Tests , Cross-Sectional Studies , Risk Factors , Failure to Thrive/diagnosis , Observational Study , Language Development Disorders/diagnosis
17.
Article in English | WPRIM | ID: wpr-762587

ABSTRACT

Idiopathic infantile hypercalcemia is characterized by hypercalcemia, dehydration, vomiting, and failure to thrive, and it is due to mutations in 24-hydroxylase (CYP24A1). Recently, mutations in sodium-phosphate cotransporter (SLC34A1) expressed in the kidney were discovered as an additional cause of idiopathic infantile hypercalcemia. This report describes a female infant admitted for evaluation of nephrocalcinosis. She presented with hypercalcemia, hypercalciuria, low intact parathyroid hormone level, and high 1,25-dihydroxyvitamin D3 level. Exome sequencing identified novel compound heterozygous mutations in SLC34A1 (c.1337G>A, c.1483C>T). The patient was treated with fluids for hydration, furosemide, a corticosteroid, and restriction of calcium/vitamin D intake. At the age of 7 months, the patient's calcium level was within the normal range, and hypercalciuria waxed and waned. Renal echogenicity improved on the follow-up ultrasonogram, and developmental delay was not noted. In cases of hypercalcemia with subsequent hypercalciuria, DNA analysis for SLC34A1 gene mutations and CYP24A1 gene mutations should be performed. Further studies are required to obtain long-term data on hypercalciuria and nephrocalcinosis.


Subject(s)
Calcitriol , Calcium , Dehydration , DNA , Exome , Failure to Thrive , Female , Follow-Up Studies , Furosemide , Humans , Hypercalcemia , Hypercalciuria , Hypophosphatemia , Infant , Kidney , Nephrocalcinosis , Parathyroid Hormone , Reference Values , Sodium-Phosphate Cotransporter Proteins , Ultrasonography , Vitamin D , Vitamin D3 24-Hydroxylase , Vomiting
18.
Article in English | WPRIM | ID: wpr-765174

ABSTRACT

Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive disorder caused by a defect in the immunoglobulin mu binding protein 2 (IGHMBP2) gene, leading to motor neuron degeneration. We identified an infant with SMARD1 by targeted exome sequencing from a consanguineous Syrian family having a history of recurrent infant deaths. The patient initially presented intrauterine growth retardation, poor sucking, failure to thrive, and respiratory failure at the age of two months, and an inborn error of metabolism was suspected at first. Over a period of one month, the infant showed rapid progression of distal muscular weakness with hand and foot contractures, which were suggestive of neuromuscular disease. Using targeted exome sequencing, the mutation in IGHMBP2 was confirmed, although the first report was normal. Targeted exome sequencing enabled identification of the genetic cause of recurrent mysterious deaths in the consanguineous family. Additionally, it is suggested that a detailed phenotypic description and communication between bioinformaticians and clinicians is important to reduce false negative results in exome sequencing.


Subject(s)
Carrier Proteins , Contracture , Exome , Failure to Thrive , Fetal Growth Retardation , Foot , Hand , Humans , Immunoglobulins , Infant Death , Infant , Metabolism , Motor Neurons , Muscle Weakness , Muscular Atrophy, Spinal , Neuromuscular Diseases , Respiratory Insufficiency
19.
Article in English | WPRIM | ID: wpr-719358

ABSTRACT

Pseudohypoaldosteronism (PHA) in infants is manifested by presence of hyperkalemia, hyponatremia, and metabolic acidosis. At initial stages, PAH is generally suspected as congenital adrenal hyperplasia. Transient PHA has been reported in infants with urinary tract infection and urinary tract malformation. We report a case of 5-month-old infant with failure to thrive and finally diagnosed with transient PHA due to urinary tract infection with vesicoureteral reflux.


Subject(s)
Acidosis , Adrenal Hyperplasia, Congenital , Failure to Thrive , Humans , Hyperkalemia , Hyponatremia , Infant , Pseudohypoaldosteronism , Urinary Tract , Urinary Tract Infections , Vesico-Ureteral Reflux
20.
Article in English | WPRIM | ID: wpr-741826

ABSTRACT

PURPOSE: Inadequate calorie intake is one of the most important causes of nonorganic failure to thrive (NOFTT) and is thought to lead to multiple micronutrient deficiencies. However, there have been few studies on NOFTT and micronutrients. The aim of this study was to evaluate the micronutrient status of children with NOFTT. METHODS: We conducted a retrospective cohort study in 161 children (106 with NOFTT and 55 health controls) at a single institution. Data on weight for age, height for age, body mass index, and biochemical parameters, indicating the children's nutritional and micronutrient status were reviewed via electronic medical records, and the two groups were compared. RESULTS: Except inorganic phosphate levels, no statistically significant differences were seen in the laboratory findings indicating the children's nutritional and micronutrient status; notably, the inorganic phosphate levels were within the normal range in both groups. We then compared the severe NOFTT (weight for age below the first percentile) and control groups; however, no statistically significant differences were seen for any of the measured parameters. CONCLUSION: Most children with NOFTT in this study had normal micronutrient levels and other laboratory findings. Therefore, element deficiencies should not be considered a natural consequence of NOFTT or in healthy children. Close monitoring and additional evaluations are needed.


Subject(s)
Body Mass Index , Child , Cohort Studies , Electronic Health Records , Failure to Thrive , Humans , Micronutrients , Reference Values , Retrospective Studies
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