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1.
Article in Portuguese | LILACS | ID: biblio-1353108

ABSTRACT

Planejamento pré-operatório de correção de deformidades supramaleolares através de impressão 3DRELATO DE CASOModelos impressos em 3D têm sido explorados profundamente no campo médico, destacando-se como importante ferramenta de auxílio para planejamento cirúrgico. Os autores apresentam relato de caso de um paciente, com artrose pós-traumática do tornozelo direito, submetido a osteotomia supramaleolar, em cunha de fechamento medial. Esta cirurgia foi realizada após planejamento operatório por impressão 3D, o que pode demonstrar reprodutibilidade deste método. (AU)


3D printed models have been explored deeply in the medical field, standing out as an important aid tool for surgical planning. The authors present a case report of a patient with post-traumatic arthrosis of the right ankle, who underwent supramaleolar osteotomy, using a medial closure wedge. This surgery was performed after operative planning by 3D printing, which can demonstrate the reproducibility of this method. (AU)


Subject(s)
Humans , Osteoarthritis , Osteotomy , Surgical Procedures, Operative , Congenital Abnormalities , Planning , Printing, Three-Dimensional
2.
Rev. ecuat. pediatr ; 22(3): 1-7, 30 de diciembre del 2021.
Article in Spanish | LILACS | ID: biblio-1352458

ABSTRACT

Introducción: El síndrome de Noonan es un trastorno genético de herencia autosómica dominante con una expresión fenotípica variable. Se encuentra dentro de las enfermedades conocidas como rasopatías, producidas por las mutaciones en los genes RAS. Los pacientes se caracterizan por dismorfismo facial, talla baja, enfermedad cardíaca congénita, alteraciones músculos esqueléticas y en algunos casos discapacidad intelectual. Caso clínico: En el presente reporte se describe el caso de un paciente masculino de un mes de edad que acude a consulta externa, presentando dismorfismo facial y estenosis pulmonar, por lo que se realiza un seguimiento multidisciplinario por sospecha de Síndrome de Noonan. A partir del cuarto mes desarrolló linfedema en la zona del deltoides. Evolución: A los 7 meses de vida se realiza secuenciación de exoma, encontrando una variante patogénica en el gen SOS1, confirmando el diagnóstico de dicho síndrome. Conclusión: Este caso documenta la presencia de síndrome de Noonan con mutación del gen SOS1 con dismorfología facial típica, estenosis de la válvula pulmonar, criptorquidia y displasia linfática con linfedema del deltoides, hallazgo no descrito en casos previos.


Introduction: Noonan syndrome is a dominant autosomal inherited ge-netic disorder with variable phenotypic expression. It is found within diseases known as rasopathies and is pro-duced by mutations in RAS genes. Patients are character-ized by facial dysmorphism, short stature, congenital heart disease, musculoskeletal disorders, and, in some cases, intellectual disability. Clinical case: This report describes the case of a one-month-old male patient who comes to the outpatient clinic, presenting with facial dysmorphism and pulmonary steno-sis, for which a multidisciplinary follow-up is carried out due to suspicion of Noonan syndrome. From the fourth month, the patient developed lymphedema in the deltoid area. Evolution: At 7 months of age, exome sequencing was per-formed, finding a pathogenic vari-ant in the SOS1 gene and confirming the diagnosis of this syndrome. Conclusion: This case documents the presence of Noonan syndrome with a mutation of the SOS1 gene with typical facial dysmorphology, pulmonary valve stenosis, cryptor-chidism and lymphatic dysplasia with deltoid.


Subject(s)
Humans , Child, Preschool , Craniofacial Abnormalities , Heart Defects, Congenital , Noonan Syndrome , Congenital Abnormalities , Genes
3.
Rev. colomb. anestesiol ; 49(4): e502, Oct.-Dec. 2021. graf
Article in English | LILACS, COLNAL | ID: biblio-1341247

ABSTRACT

Abstract Airway-related pathology poses a significant challenge to the pediatric anesthesiologist. This case report involves a 28-day-old neonate diagnosed with congenital tracheal stenosis who underwent a slide tracheoplasty intervention with extracorporeal circulation. The anesthetic management is described, together with our experience in the face of a challenging situation, including adverse events during surgery.


Resumen La patología relacionada con la vía aérea es uno de los grandes retos a los que se enfrenta un anestesiólogo pediátrico. En este reporte de caso se presenta una cirugía realizada en nuestro hospital. Un neonato de 28 días de vida, diagnosticado con estenosis traqueal congénita fue intervenido con traqueoplastia por deslizamiento, bajo soporte con circulación extracorpórea. Se documenta el manejo anestésico, y la experiencia de enfrentar un reto complejo, incluyendo los eventos adversos que ocurrieron durante la cirugía.


Subject(s)
Humans , Male , Female , Infant, Newborn , Airway Remodeling , Congenital Abnormalities , Thoracic Surgery , Trachea , Infant, Newborn , Extracorporeal Circulation
4.
Arq. bras. med. vet. zootec. (Online) ; 73(5): 1105-1110, Sept.-Oct. 2021. ilus
Article in English | ID: biblio-1345268

ABSTRACT

The aim of this work was to report the occurrence of dicephalus iniodymus monauchenos in a Nellore newborn. A three-days old calf, from in vitro production, with duplication of the head and a history of cesarean birth was attended. On physical examination, the dicephalus, iniodymus and monauchenos, which were almost the same size and shape, had four eyes and four ears. Computed tomography showed the presence of two skulls fused with a common occipital foramen, two nasopharynxes, oropharynxes with the presence of a cleft lip and a cleft palate in the right head, which continued in a single esophagus and a single trachea. At necropsy, the presence of duplication of the cerebrum and cerebellum was observed, with union of the parts in the region of the trapezoid body of the brainstem and continued as a single spinal cord. This study characterizes the clinical, tomographic, and necropsy findings of a dicephalus Nelore neonate.(AU)


O objetivo deste trabalho foi relatar a ocorrência de Dicephalus Iniodymus Monauchenos em um neonato da raça Nelore de produção in vitro. Foi atendida uma fêmea bovina, de três dias de idade, com duplicação das cabeças e histórico de nascimento por meio de cesariana. No exame físico, observou-se a dicefalia, Iniodymus e Monauchenos, apresentando quatro olhos e quatro orelhas. Na tomografia computadorizada, constatou-se a presença de dois crânios fundidos com um forame occipital comum, duas nasofaringes, orofaringes com presença de lábio leporino e fenda palatina na cabeça direita, que continuavam em um único esôfago e em uma única traqueia. Na necropsia, observou-se a presença de duplicação do encéfalo e cerebelo, com união das partes na região do corpo trapezoide do tronco encefálico, que continuavam como uma única medula espinhal. Este estudo caracteriza os achados clínicos, tomográficos e de necropsia de um neonato Nelore dicefálico.(AU)


Subject(s)
Animals , Cattle , Congenital Abnormalities/diagnosis , Congenital Abnormalities/pathology , Congenital Abnormalities/diagnostic imaging , Cattle/abnormalities , Fertilization in Vitro/veterinary , Cleft Lip/veterinary , Cleft Palate/veterinary
5.
Arq. bras. med. vet. zootec. (Online) ; 73(5): 1094-1098, Sept.-Oct. 2021. ilus
Article in English | ID: biblio-1345267

ABSTRACT

The present report describes a case of conjoined twins of the cephalo-thoraco-omphalopagus deradelphous type in cats. A feline female was transferred to our veterinary hospital as an emergency for dystocic labor. The stillborn was subjected to radiographic evaluation, and a single skull and two complete distinct vertebral columns were found. Anatomopathological examination revealed that the twins presented the head, chest, and umbilicus as the main points of union and were classified as the cephalo-thoraco-omphalopagus type. In addition, the twins had unique and well-developed faces, which allowed them to be classified as deradelphous. This malformation is rare in domestic animals, and to the best of our knowledge, this type has not been reported in felines. Further studies are warranted on this embryonic alteration, primarily because its etiology remains unknown.(AU)


O presente relato descreve um caso de gêmeos siameses do tipo cefalotoraconfalopago deradelfo em gatos. Uma fêmea felina foi atendida na emergência do hospital veterinário em trabalho de parto distócico. Os natimortos foram encaminhados para avaliação radiográfica e constatou-se que apresentavam um único crânio e duas colunas vertebrais completas e distintas. O exame anatomopatológico evidenciou que os gêmeos possuíam cabeça, tórax e umbigo como principais pontos de união, sendo classificados como cefalotoraconfalopago. Além disso, os gêmeos apresentaram face única e bem desenvolvida, o que permitiu classificá-los como deradelfos. Esse tipo de malformação é raro em animais domésticos, e não foi encontrado nenhum trabalho em felino com a mesma classificação do presente relato. Há necessidade de mais estudos sobre essa alteração embrionária, pois a etiologia do processo ainda não foi esclarecida.(AU)


Subject(s)
Animals , Cats , Twins, Conjoined , Cats/abnormalities , Cats/embryology , Congenital Abnormalities/veterinary , Twinning, Embryonic
6.
Femina ; 49(9): 556-571, 20211030. tab
Article in Portuguese | LILACS | ID: biblio-1342326

ABSTRACT

Objetivo: Determinar a correlação entre vias de parto, locais de parto e prognóstico neonatal por meio do índice de Apgar e a capacidade de diagnosticar malforma- ções. Métodos: A pesquisa foi realizada no Sistema de Informação de Nascidos Vivos para variáveis de parto e malformações. Também correlacionamos o Apgar com ou sem malformação fetal e local do parto. Resultados: Houve uma quantidade considerável de dados de Apgar indefinidos, especialmente em partos domiciliares. Os partos domiciliares com malformações fetais com Apgar 0-2 e 3-5 no primeiro minuto também apresentaram piores taxas de recuperação no quinto minuto em comparação a cesárea e parto vaginal intra-hospitalar. O registro do diagnóstico das malformações fetais ocorre em ambiente hospitalar e é mais frequente do que no domiciliar. Recém-nascidos com malformações fetais apresentaram maiores taxas de Apgar ao nascer em ambiente hospitalar. As anomalias associadas aos piores prognósticos foram neurológicas e cardiológicas, enquanto as menos associadas foram as de pés e quadris. Conclusão: Esta pesquisa sugere que a cesárea e o parto hospitalar estão correlacionados a um melhor prognóstico do recém-nascido com malformação, bem como a capacidade de diagnosticar doenças congênitas que potencialmente requerem intervenção médica imediata.(AU)


Objective: To determine the correlation between delivery routes, delivery sites and neonatal prognosis through Apgar score and the ability to diagnose malformations. Methods: Research was carried out in the Live Birth Information System for delivery variables and malformations. We also correlated Apgar with or without fetal malformation and delivery site. Results: There was a considerable amount of undefined Apgar data, especially in home births. Home births with fetal malformations with Apgar 0-2 and 3-5 in the first minute also showed worse recovery rates in the fifth minute compared to cesarean section and intra-hospital vaginal delivery. Registration of the diagnosis of fetal malformations occurs in a hospital environment and is more frequent than at home. Newborns with fetal malformations had higher Apgar rates when born in a hospital environment. The abnormalities associated with the worst prognoses were neurological and cardiological, while the least associated were those of the feet and hips. Conclusion: This research suggests that caesarean section and hospital births are correlated with a better prognosis of the newborn with malformation, as well as ability to diagnose congenital diseases that potentially require immediate medical intervention.(AU)


Subject(s)
Humans , Female , Pregnancy , Infant, Newborn , Apgar Score , Congenital Abnormalities/diagnosis , Congenital Abnormalities/epidemiology , Parturition , Prognosis , Cesarean Section , Birth Setting , Home Childbirth , Natural Childbirth
7.
Article in Portuguese | LILACS | ID: biblio-1353490

ABSTRACT

RESUMO: A Artrogripose Múltipla Congênita (AMC) é uma síndrome rara, que representa um grupo de condições congênitas caracterizado por contraturas articulares em duas ou mais articulações, não progressivas, geralmente simétricas, de etiologia desconhecida e que pode estar associada a outras malformações, como viscerais e neurológicas. Apresenta-mos dois casos isolados com achados característicos de AMC, atendidos em ambulatório de pediatria de alto risco de uma cidade do Oeste do Paraná. Caso 1: lactente, sexo feminino, 14 dias de vida, com redução dos movimentos fetais referidos pela mãe, apresentando malformações envolvendo somente os membros, visualizadas logo após o nasci-mento. Caso 2: lactente, sexo masculino, quatro meses de vida, com diagnóstico de hipocinesia fetal ao ultrassom obstétrico de 23 semanas, ao nascimento apresenta contraturas dos membros e disfunção do sistema nervoso cen-tral. O diagnóstico da artrogripose é complexo e essencialmente clínico, sendo necessária uma anamnese meticulosa, contemplando uma avaliação da gestação, via de parto, história familiar e um exame físico minucioso, classificando quais os tipos de contraturas, membros envolvidos, presença de musculatura alterada e de alterações neurológicas, a fim de diferenciar a AMC das outras síndromes que também cursam com contraturas articulares. O seguimento e tratamento dos lactentes com artrogripose devem ocorrer em acompanhamento multidisciplinar devido às variadas manifestações que a doença pode apresentar e à característica de recidiva ao longo dos anos. (AU)


ABSTRACTArthrogryposis Multiple Congenita (AMC) is a rare syndrome that represents a group of congenital conditions character-ized by joint contractures in two or more joints, non-progressive, usually symmetrical, of unknown etiology and which may be associated with other malformations, such as visceral and neurological. We present two isolated cases with characteristic features of AMC, seen in a high-risk pediatrics outpatient clinic in a city in western Paraná. Case 1: infant, female, 14 days old, with reduced fetal movements reported by the mother, presenting malformations involving only the limbs, seen immediately after birth. Case 2: infant, male, four months old, diagnosed with fetal hypokinesia on 23-week obstetric ultrasound, at birth, presents limb contractures and central nervous system dysfunction. The diagnosis of ar-throgryposis is complex and essentially clinical, requiring a meticulous anamnesis, including an assessment of pregnan-cy, delivery, family history and a thorough physical examination, classifying what types of contractures, involved limbs, presence of altered musculature and neurological changes to differentiate AMC from other syndromes that also have joint contractures. The aftercare and treatment of infants with arthrogryposis must occur in multidisciplinary follow-up due to the varied manifestations that the disease may present and the characteristic of recurrence over the years. (AU)


Subject(s)
Humans , Female , Infant , Arthrogryposis , Congenital Abnormalities , Contracture , Extremities , Integrality in Health , Immobilization
8.
Coluna/Columna ; 20(3): 169-173, July-Sept. 2021. tab, graf
Article in English | LILACS | ID: biblio-1339744

ABSTRACT

ABSTRACT Objective To present the preliminary results of the bipolar technique for the surgical treatment of neuromuscular spine deformities. Methods Five patients with neuromuscular scoliosis (cerebral palsy - 3 patients, spinal amyotrophy - 1 patient, and genetic syndrome - 1 patient) underwent surgical treatment using the bipolar technique and were evaluated 12 months after the operation. Results General care and the ability to sit improved in all patients. The main curve ranged from 64.7 to 84.1 degrees (mean 70.58 ± 7.1) in the preoperative period and from 2.6 to 50.3 degrees (mean 25.50 ± 16.0) in the postoperative period with 64% correction. Corrections of pelvic obliquity (85%), T4-T12 kyphosis (43%), the Pisa angle (69%) and the sacroclavicular angle (60%) were observed 12 months following surgery. Postoperative infection (2 patients) and pneumonia (1 patient) were the complications observed. Conclusion The bipolar technique presented good clinical and radiological results associated with low morbidity in the treatment of neuromuscular spine deformities. Level of evidence IV; Case series.


RESUMO Objetivo Apresentar os resultados preliminares da técnica bipolar no tratamento cirúrgico das deformidades neuromusculares da coluna vertebral. Métodos Cinco pacientes com escoliose neuromuscular (paralisia cerebral - três pacientes, amiotrofia espinhal - um paciente, e síndrome genética - um paciente) foram submetidos ao tratamento cirúrgico por meio da técnica bipolar e avaliados 12 meses depois da cirurgia. Resultados Os cuidados gerais e a capacidade de sentar apresentaram melhora em todos os pacientes. A curva principal variou de 64,7 a 84,1 graus (média 70,58 ± 7,1) no pré-operatório e de 2,6 a 50,3 graus (média 25,50 ± 16,0) no pós-operatório, com correção de 64%. A correção da obliquidade pélvica (85%), de cifose T4-T12 (43%), do ângulo de Pisa (69%) e do ângulo sacro clavicular (60%) foi observada depois de 12 meses de pós-operatório. Infecção pós-operatória (dois pacientes) e pneumonia (um paciente) foram as complicações observadas. Conclusão A técnica bipolar apresentou bons resultados clínicos e radiológicos associados a pequena morbidade no tratamento de deformidades neuromusculares da coluna vertebral. Nível de evidência IV; Série de casos.


RESUMEN Objetivo Presentar los resultados preliminares de la técnica bipolar en el tratamiento quirúrgico de las deformidades neuromusculares de la columna. Métodos Cinco pacientes con escoliosis neuromuscular (parálisis cerebral - 3 pacientes, amiotrofia espinal - 1 paciente y síndrome genético - 1 paciente) fueron sometidos a tratamiento quirúrgico mediante técnica bipolar y evaluados a los 12 meses de cirugía. Resultados Los cuidados generales y la capacidad de sentarse mejoraron en todos los pacientes. La curva principal osciló entre 64,7 y 84,1 grados (media 70,58 ± 7,1) en el preoperatorio y entre 2,6 y 50,3 grados (media 25,50 ± 16,0) en el postoperatorio con una corrección del 64%. La corrección de oblicuidad pélvica (85%), cifosis T4-T12 (43%), ángulo de Pisa (69%) y ángulo clavicular sacro (60%) se observó a los 12 meses del posoperatorio. Infección postoperatoria (2 pacientes) y neumonía (1 paciente) fueron las complicaciones observadas. Conclusión La técnica bipolar mostró buenos resultados clínicos y radiológicos asociados a la reducción de la morbilidad en el tratamiento de las deformidades neuromusculares de la columna. Nivel de evidencia IV; Serie de casos.


Subject(s)
Humans , Neuromuscular Diseases , Congenital Abnormalities , Minimally Invasive Surgical Procedures
9.
Coluna/Columna ; 20(3): 192-196, July-Sept. 2021. tab, graf
Article in English | LILACS | ID: biblio-1339743

ABSTRACT

ABSTRACT Objective To analyze the effect of lavender essential oil associated with massage on spinal pain levels in obese women. Methods The sample included 49 obese women, between 20 and 60 years of age, randomly assigned to three groups: control (n=15), intervention (n=19) and placebo (n=15). The intervention and placebo groups were submitted to eight 35-minute sessions, twice a week for one month, but the essential oil of Lavandula angustifolia was used only in the intervention group. A placebo was used for the placebo group and the control group received no intervention. Pain levels were measured before and after the intervention using the Visual Analog Scale. Results There was a significant decrease in total spinal pain (p=0.004), in the cervical region (p=0.003) and in the lumbar region (p=0.008) in the intervention group. Conclusion Lavender essential oil had a positive impact on the reduction of pain in the spine of obese women, as well as in the specific areas of the cervical and lumbar regions compared to the control and placebo groups. Level of evidence I; Randomized clinical trial.


RESUMO Objetivo Analisar o efeito do óleo essencial de lavanda associado à massagem nos níveis de dor na coluna em mulheres obesas. Métodos A amostra incluiu 49 mulheres obesas com idades entre 20 e 60 anos, randomizadas em três grupos: controle (n = 15), intervenção (n = 19) e placebo (n = 15). Os grupos intervenção e placebo foram submetidos a oito sessões com duração de 35 minutos, duas vezes por semana durante um mês, sendo que o óleo essencial de Lavandula angustifolia foi usado apenas no grupo intervenção. Um placebo foi usado para o grupo placebo e o grupo controle não recebeu intervenção. Os níveis de dor foram medidos antes e depois da intervenção pela Escala Visual Analógica. Resultados Houve diminuição significativa da dor total na coluna (p = 0,004), na região cervical (p = 0,003) e na região lombar (p = 0,008) no grupo intervenção. Conclusão O óleo essencial de lavanda teve impacto positivo na redução da dor na coluna de mulheres obesas, bem como em áreas específicas das regiões cervical e lombar em comparação com os grupos controle e placebo. Nível de evidência I; Ensaio clínico randomizado.


RESUMEN Objetivo Analizar el efecto del aceite esencial de lavanda asociado al masaje sobre los niveles de dolor espinal en mujeres obesas. Métodos La muestra incluyó a 49 mujeres obesas con edades de 20 a 60 años, distribuidas aleatoriamente en tres grupos: control (n = 15), intervención (n = 19) y placebo (n = 15). Los grupos intervención y placebo se sometieron a ocho sesiones con 35 minutos de duración, dos veces por semana durante un mes, utilizándose el aceite esencial de Lavandula angustifolia solo en el grupo intervención. Para el grupo placebo se utilizó un placebo y el grupo control no recibió ninguna intervención. Los niveles de dolor se midieron antes y después de la intervención, utilizando la Escala Visual Analógica. Resultados Hubo una disminución significativa del dolor total en la columna (p = 0,004), en la región cervical (p = 0,003) y en la región lumbar (p = 0,008) en el grupo intervención. Conclusión El aceite esencial de lavanda tuvo un impacto positivo en la reducción del dolor de columna vertebral en mujeres obesas, así como en las áreas específicas de las regiones cervical y lumbar en comparación con los grupos control y placebo. Nivel de evidencia I; Ensayo clínico aleatorizado.


Subject(s)
Humans , Congenital Abnormalities , Minimally Invasive Surgical Procedures , Neuromuscular Diseases
10.
Biomédica (Bogotá) ; 41(3): 493-503, jul.-set. 2021. tab, graf
Article in Spanish | LILACS | ID: biblio-1345399

ABSTRACT

Resumen Introducción. En la actualidad, la diabetes mellitus representa una de las condiciones médicas que complica el embarazo con mayor frecuencia, lo que afecta el crecimiento y el desarrollo fetal. Objetivo. Determinar las malformaciones esqueléticas y alteraciones en el crecimiento en fetos de ratas Wistar diabéticas. Materiales y métodos. Se utilizó un modelo de diabetes moderada inducida neonatalmente con estreptozotocina (STZ 100 mg/kg de peso corporal, por vía subcutánea) en ratas Wistar. En la adultez, las ratas sanas y diabéticas se aparearon con machos sanos de la misma edad y cepa. El día 20 de gestación se practicó la cesárea bajo anestesia. Se extrajeron los fetos, se pesaron y clasificaron como pequeños (PAG), adecuados (AEG) o grandes (GEG) para la edad gestacional. Los fetos seleccionados se procesaron para el análisis de anomalías esqueléticas y sitios de osificación. Resultados. En la descendencia de las ratas diabéticas, hubo un mayor porcentaje de fetos clasificados como pequeños o grandes y un menor porcentaje de fetos con peso adecuado; el promedio de peso fetal fue menor y había menos sitios de osificación. Se observaron alteraciones en la osificación de cráneo, esternón, columna vertebral, costillas y extremidades anteriores y posteriores; y también, hubo una correlación directa entre el peso y el grado de osificación fetal. Hubo malformaciones congénitas asociadas con la fusión y bifurcación de las costillas, así como cambios indicativos de hidrocefalia, como la forma de domo del cráneo, una amplia distancia entre los parietales y la anchura de las fontanelas anterior y posterior. Conclusión. La diabetes moderada durante la gestación altera el crecimiento y el desarrollo fetal, que se ve afectado tanto por macrosomía y la restricción del crecimiento intrauterino como por malformaciones esqueléticas.


Abstract Introduction: Currently, diabetes mellitus represents one of the medical conditions that more frequently complicates pregnancy affecting the fetus's growth and development. Objective: To determine the skeletal malformations and growth alterations in fetuses of diabetic Wistar rats. Materials and methods: We used a neonatally streptozotocin-induced mild diabetes model (STZ 100 mg/kg body weight - subcutaneously) in Wistar rats. In adulthood, healthy and diabetic rats were mated with healthy males of the same age and strain. On day 20 of gestation, a cesarean was performed under anesthesia. Fetuses were removed, weighed, and classified as small (SPA), adequate (APA), and large (LPA) for the gestational age. Selected fetuses were processed for skeletal anomaly and ossification sites analysis. Results: In the offspring of diabetic rats, there was a higher percentage of fetuses classified as small or large and a lower percentage of fetuses with adequate weight; the fetal weight mean was lower and there were fewer sites of ossification. Alterations were observed in the ossification of the skull, sternum, spine, ribs and fore and hind limbs; and also, there was a direct correlation between fetal weight and ossification degree There were congenital malformations associated with fusion and bifurcation of the ribs, as well as changes indicative of hydrocephaly, such as the dome shape of the skull, a wide distance between parietals, and the width of the anterior and posterior fontanels. Conclusion: Moderate diabetes during pregnancy alters fetal growth and development with macrosomia and intrauterine growth restriction, as well as skeletal malformations.


Subject(s)
Diabetes Mellitus, Experimental , Fetal Growth Retardation , Congenital Abnormalities , Fetal Macrosomia , Teratogenesis
11.
Arq. bras. med. vet. zootec. (Online) ; 73(4): 916-922, Jul.-Aug. 2021. ilus
Article in English | ID: biblio-1285267

ABSTRACT

This study characterized the clinical, radiological, ultrasound, and necroscopic findings of a case of Arnold-Chiari type II malformation in a Gir breed calf from Brazil. The animal was hospitalized at sixty days of age, in permanent sternal recumbency, cutaneous appendix at the 4th lumbar vertebra and kyphoscoliosis of the caudal and lumbosacral thoracic spine. Radiographic examination of the spine and skull revealed spina bifida and suspected occipital hypoplasia. Upon examination of myelography with an injection of lumbar and atlantooccipital contrast, it was possible to visualize the meningocele at the 4th lumbar vertebra region and findings at the rhombencephalon level of increased regional pressure with failure to fill the contrast in the posterior fossa, in the presence of clear demarcation of the circumvolutions of the cerebral cortex and the subarachnoid space of the cervical spinal cord. Ultrasonographic examination of the cerebellum showed an insinuation of the cerebellar worm through the foramen magnum. The animal did not show changes in complete blood count, biochemical series, and cerebrospinal fluid and was negative for Pestivirus. There was a worsening of the clinical conditions and the animal died. This malformation of unknown etiology must be studied as a differential diagnosis of the nervous system disorders.(AU)


Este estudo caracterizou os achados clínicos, radiológicos, ultrassonográficos e necroscópicos de um caso de malformação de Arnold-Chiari tipo II em uma bezerra Gir no Brasil. O animal foi hospilatizado aos 60 dias de idade, apresentando decúbito esternal permanente, apêndice cutâneo na altura da quarta vértebra lombar e cifoescoliose da coluna vertebral torácica caudal e lombossacra. Ao exame radiográfico da coluna e do crânio, foram observadas espinha bífida e suspeita de hipoplasia occipital. Ao exame de mielografia com injeção de contraste lombar e atlanto-occipital, foi possivel visualizar a meningocele na altura da quarta vértebra lombar e achados em nível rombencefálico de aumento da pressão regional com falha de preenchimento do contraste na fossa posterior, na presença de nítida demarcação das circunvoluções do córtex cerebral e do espaço subaracnoide da medula espinhal cervical. Ao exame ultrassonográfico do cerebelo, foi observada insinuação do verme cerebelar através do forame magno. O animal não apresentou alterações em hemograma completo, série bioquímica e fluido cérebro-espinhal e foi negativo para Pestivirus. Houve uma piora do quadro clínico e o animal morreu. Essa malformação de etiologia desconhecida deve ser estudada como um diagnóstico diferencial.(AU)


Subject(s)
Animals , Female , Cattle , Arnold-Chiari Malformation/veterinary , Arnold-Chiari Malformation/diagnostic imaging , Cerebellar Vermis/diagnostic imaging , Congenital Abnormalities/veterinary , Nervous System Diseases/diagnostic imaging
12.
Rev. colomb. cardiol ; 28(4): 383-388, jul.-ago. 2021. graf
Article in Spanish | LILACS, COLNAL | ID: biblio-1351937

ABSTRACT

Resumen En el siguiente reporte se expone un caso complejo en el que coexisten malformaciones cardiacas congénitas de presentación atípica con un doble tracto de salida del ventrículo derecho, en un paciente con múltiples anomalías menores en la exploración física y un cariotipo normal. La atipia de cada una de estas y su coexistencia hacen pensar en posibles alteraciones genéticas que aún son desconocidas. Lo anterior supone un reto terapéutico con el fin de restaurar una fisiología cardiaca compatible con la vida, lo cual se logra en este caso mediante un cerclaje exitoso de la arteria pulmonar.


Abstract The following report presents a complex case in which congenital cardiac malformations of atypical presentation coexist with a double outlet right ventricle, in a patient with multiple minor abnormalities on the physical examination and a normal karyotype. The atypia of these and their coexistence suggest possible genetic alterations that are still unknown. Therefore, a therapeutic challenge in order to restore a cardiac physiology compatible with life is proposed, which is achieved in this case through a successful banding of the pulmonary artery.


Subject(s)
Humans , Double Outlet Right Ventricle , Dextrocardia , Pulmonary Artery , Congenital Abnormalities , Hypertension, Pulmonary
13.
Rev. colomb. anestesiol ; 49(2): e700, Apr.-June 2021. graf
Article in English | LILACS, COLNAL | ID: biblio-1251505

ABSTRACT

Cervical kyphoscoliosis is an uncommon spinal deformity. Kyphosis or outward curvature of cervical-spine (Image A) has led to a fixed flexion state resulting in suspension of patient's head in the air while lying on the imaging table. Additionally, dextroscoliosis or rightward convexity of the cervical vertebral axis has resulted in a persistent leftward head tilt (Image B). Head and neck radiation and trauma can lead to cervical kyphoscoliosis. In addition to the cosmetic deformity, patients present with myelopathic sensorimotor symptoms such as weakness and tingling of upper extremities. The Poisson effect states that flexion of the spine lengthens and stretches the spinal canal, reduces its area and narrows its lumen. This causes spinal cord impingement and myelopathy.


La cifoescoliosis cervical es una deformidad de la columna vertebral poco frecuente. La cifosis o la curvatura hacia fuera de la columna cervical (imagen A) ha dado lugar a un estado de flexión fija que provoca la suspensión de la cabeza del paciente en el aire mientras está tumbado en la mesa de diagnóstico por imagen. Además, la dextroscoliosis o convexidad hacia la derecha del eje vertebral cervical ha dado lugar a una inclinación persistente de la cabeza hacia la izquierda (Imagen B). La radiación de cabeza y cuello y los traumatismos pueden provocar cifoescoliosis cervical. Además de la deformidad estética, los pacientes presentan síntomas sensoriomotores mielopáticos como debilidad y hormigueo en las extremidades superiores. El efecto Poisson establece que la flexión de la columna vertebral alarga y estira el canal espinal, reduce su área y estrecha su lumen. Esto provoca el pinzamiento de la médula espinal y la mielopatía.


Subject(s)
Humans , Spinal Cord Diseases , Spine , Congenital Abnormalities , Paresthesia , Radiology , Spinal Canal , Cervical Vertebrae , Neck
14.
Cambios rev. méd ; 20(1): 60-66, 30 junio 2021. tabs., graf.
Article in English | LILACS | ID: biblio-1292871

ABSTRACT

INTRODUCTION. Airway abnormalities are rare but potentially fatal. Stridor is a res-piratory noise with greater predominance in the inspiratory phase. OBJECTIVE. To evaluate the etiology of stridor, determine its comorbidities and mortality. MATERIALS AND METHODS. Retrospective cross-sectional study. Population of 110 and sample of 33 data from the Medical Records of neonatal or infant patients who presented stri-dor at the Carlos Andrade Marín Specialties Hospital of Quito-Ecuador, from january 2009 to december 2020. RESULTS. The 51,51% (17; 33) of cases were men. The age of the first consultation for stridor was within the first month in 18,00% (6; 33) and 40,00% (13; 33) at 3 months. The most frequent congenital laryngeal patholo-gy was: laryngomalacia 81,82% (27; 33), followed by subglottic stenosis 9,09% (3; 33), bilateral chordal paralysis 6,06% (2; 33) and tracheal stenosis 3,03% (1; 33). The 51,51% (17; 33) presented comorbidities of causes: neurological, pulmonary and genetic among the main ones. Mortality was 18,20% (6; 33) related to the severity of comorbidities, except one secondary to tracheal stenosis. CONCLUSION. Laryn-gomalacia and subglottic stenosis were the predominant pathologies with congenital stridor. The comorbidities that occurred were neurological, pulmonary, genetic and caused mortality within 90 days after diagnosis.


INTRODUCCIÓN. Las anomalías de la vía aérea son poco frecuentes, pero potencialmente mortales. El estridor es un ruido respiratorio con mayor predominio en la fase inspiratoria. OBJETIVO. Evaluar la etiología del estridor, determinar sus comorbilidades y la mortalidad. MATERIALES Y MÉTODOS. Estudio transversal retrospectivo. Población de 110 y muestra de 33 datos de Historias Clínicas de pacientes neonatos o lactantes que presentaron estridor en el Hospital de Especialidades Carlos Andrade Marín de Quito - Ecuador, de enero 2009 a diciembre 2020. RESULTADOS. El 51,51% (17; 33) de casos fueron hombres. La edad de la primera consulta por estridor fue dentro del primer mes en el 18,00% (6; 33) y del 40,00% (13; 33) a los 3 meses. La patología congénita laríngea más frecuente fue: laringomalacia 81,82% (27; 33), seguida de estenosis subglótica 9,09% (3; 33), parálisis cordal bila-teral 6,06% (2; 33) y estenosis traqueal 3,03% (1; 33). El 51,51% (17; 33) presentaron comorbilidades de causas: neurológica, pulmonar y genética entre las principales. La mortalidad fue 18,20% (6; 33) relacionada con la severidad de las comorbilidades, excepto una secundaria a estenosis traqueal. CONCLUSIÓN. La laringomalacia y la estenosis subglótica fueron las patologías que predominaron con estridor congénito. Las comorbilidades que se presentaron fueron neurológica, pulmonar, genética y causaron mortalidad dentro de los 90 días posteriores al diagnóstico.


Subject(s)
Humans , Male , Female , Infant, Newborn , Infant , Congenital Abnormalities , Vocal Cords , Respiratory Sounds , Laryngostenosis , Laryngomalacia/congenital , Neonatology , Sleep Apnea Syndromes , Tracheal Stenosis , Cyanosis , Airway Remodeling
15.
Rev. colomb. cardiol ; 28(3): 284-288, mayo-jun. 2021. graf
Article in Spanish | LILACS, COLNAL | ID: biblio-1341297

ABSTRACT

Resumen La rubeola es una enfermedad exantemática que se produce en la infancia. En caso de que se presente durante la gestación y hubiera afectación del producto, este puede desarrollar el síndrome de rubeola congénita, el cual incluye malformaciones cardiacas que se presentan en el 67% de los pacientes, de las cuales la más común es la persistencia del conducto arterioso, seguida de la estenosis valvular pulmonar y la comunicación interauricular. Se presenta el caso de un hombre de 20 años con diagnóstico de síndrome de rubeola congénita, quien desarrolló glaucoma congénito, insuficiencia aórtica grave, insuficiencia mitral grave y enfermedad miocárdica isquémica. Se realizó procedimiento quirúrgico de revascularización coronaria y recambio valvular mitral y aórtico. Los estudios encontrados durante el proceso de investigación mencionan el daño de los vasos sanguíneos y del miocardio producido por el virus. Con los datos obtenidos se corrobora la baja incidencia de presentación con compromiso coronario y valvular, por lo cual se hace énfasis en la importancia de este caso.


Abstract Rubella is an exanthematous disease that occurs in childhood. If it occurs during pregnancy and there is an effect on the product, it can develop congenital rubella syndrome. The congenital rubella syndrome includes cardiac malformations, which occur in 67% of patients, of which the most common is patent ductus arteriosus, followed by pulmonary valvular stenosis and atrial septal defect. We present the case of a 20-year-old man with a diagnosis of congenital rubella syndrome, presenting with congenital glaucoma, severe aortic insufficiency, severe mitral regurgitation and ischemic myocardial disease. In which a surgical procedure is performed by a coronary revascularization and mitral and aortic valve replacement. Studies found during the research process mention the damage to the blood vessels and myocardium produced by the virus. With the required data, the low incidence of presentation with coronary and valvular involvement is corroborated, which is why the importance of the present case is emphasized.


Subject(s)
Humans , Male , Young Adult , Congenital Abnormalities , Rubella Syndrome, Congenital , Aortic Valve Insufficiency , Ischemia , Mitral Valve Insufficiency
16.
Arch. argent. pediatr ; 119(3): e269-e272, Junio 2021. ilus
Article in Spanish | LILACS, BINACIS | ID: biblio-1248235

ABSTRACT

Las anomalías de las hendiduras y arcos branquiales son la segunda causa más común de lesiones congénitas de cabeza y cuello en niños. Representan el 8% de todas las malformaciones congénitas y el 30% de las de cabeza y cuello. Pueden permanecer asintomáticas o manifestarse como una tumefacción y asociarse a infecciones recurrentes supuradas en la región preauricular, subauricular o retroauricular, en las regiones de la parótida y/o del cuello. Fueron reportados casos asociados a malformaciones óticas.La tomografía computada de alta resolución y la resonancia magnética con gadolinio pueden ayudar al diagnóstico. El tratamiento médico antibiótico está indicado ante una infección aguda, además de incisión y drenaje en los procesos abscedados. El tratamiento definitivo es quirúrgico con la extirpación completa de la lesión. Se presenta a un niño de 6 años de edad con infección aguda en la región retroauricular derecha en el oído disgenésico


Branchial cleft anomalies are the second most common congenital head and neck lesions in children. The first congenital head and neck lesion is thyroglossal duct cysts. First branchial cleft anomalies are rare congenital head and neck malformations (8% of branchial cleft anomalies).The initial clinical manifestation was recurrent infections and/or discharge in auricular, periauricular, parotid or upper neck regions. These anomalies are extremely rare and other associated facial malformations were described.The computed tomography and magnetic resonance can help the diagnosis. The antibiotic treatment is indicated in acute infection. Also, incision and drainage are recommended in abscessed processes.In this report, we present a case of retroauricular sinus infection in a 6-year-old child with congenital ear anomalies


Subject(s)
Humans , Male , Child , Branchial Region/abnormalities , Fistula/diagnostic imaging , Congenital Abnormalities , Ear, External , Fistula/surgery
17.
Rev. bras. ortop ; 56(3): 360-367, May-June 2021. tab, graf
Article in English | LILACS | ID: biblio-1288676

ABSTRACT

Abstract Objective To measure and document the clinical impact of the waiting time for surgical treatment of patients with spinal deformities in a quaternary center in Brazil. Methods In total, 59 patients with spinal deformity waiting for surgery on our hospital's list were evaluated to observe the impact of the waiting time on the progression of the deformity. Patient evaluation was performed using the SRS-22r questionnaire for health-related quality of life (HRQL) and radiographic images to evaluate the deformity of the spine at the time the patients were included in the waiting list and at the most recent appointment. The radiographic parameters selected for comparison were: Cobb angle of the primary and secondary curves, coronal alignment, apical vertebral translation, pelvic obliquity, sagittal vertebral axis, kyphosis (T5-T12), and lordosis (L1-S1). Results Low HRQL scores according to the SRS-22r questionnaire were observed in patients waiting for surgery. The radiographic parameters showed progression of the deformity on the initial evaluation when compared with the most recent follow-up evaluation. Conclusion The patients waiting for surgical treatment of spinal deformities in our center showed relatively low HRQL scores and radiographic progression of the deformity.


Resumo Objetivo Medir e documentar o impacto clínico do tempo de espera para tratamento cirúrgico de pacientes com deformidades na coluna vertebral em um centro quaternário no Brasil. Métodos No total, 59 pacientes com deformidade espinhal à espera de cirurgia na lista do nosso hospital foram avaliados para observar o impacto dos tempos de espera na progressão da deformidade. A avaliação do paciente foi realizada utilizando o questionário SRS-22r para qualidade de vida relacionada à saúde (QLRS), e imagens radiográficas para avaliar a deformidade da coluna vertebral quando os pacientes foram incluídos na lista de espera e na consulta mais recente. Os parâmetros radiográficos selecionados para comparação foram: ângulo de Cobb de curvas primárias e secundárias, alinhamento coronal, translação de vértebra apical, obliquidade pélvica, eixo vertebral sagital, cifose (T5-T12), e lordose (L1-S1). Resultados Baixos escores de QLRS segundo o questionário SRS-22r foram observados em pacientes que aguardavam cirurgia. Os parâmetros radiográficos mostraram progressão da deformidade na avaliação inicial em comparação com a avaliação de seguimento mais recente. Conclusão Os pacientes que aguardavam tratamento cirúrgico de deformidade espinhal em nosso centro apresentaram os escores de QLRS relativamente baixos e progressão radiográfica da deformidade.


Subject(s)
Scoliosis , Spine , Congenital Abnormalities , Surveys and Questionnaires , Waiting Lists , Vertebral Body , Health Policy , Lordosis
18.
Rev. medica electron ; 43(2)mar.-abr. 2021.
Article in Spanish | LILACS, CUMED | ID: biblio-1251950

ABSTRACT

El tratamiento del pie zambo congénito ha evolucionado a lo largo de la historia. Desde la Antigüedad hasta finales de la Edad Media se utilizaron las manipulaciones e inmovilizaciones seriadas. Del Renacimiento al siglo XVII se crearon las primeras ortesis. En el siglo XVIII comenzó el uso de moldes de yeso y se desarrollaron ortesis y calzados complejos. El período del siglo XIX hasta la tercera década del XX, se caracterizó por la práctica de las tenotomías, siendo la cirugía el principal enfoque terapéutico. En el siglo XX, Joseph Kite e Ignacio Ponseti describieron su eficaz método no quirúrgico, lo que produjo el regreso a las manipulaciones e inmovilizaciones seriadas frente a la cirugía agresiva. Cuando se revisa la historia del tratamiento del pie zambo, sorprende ver que los médicos tratantes cometían los mismos errores una y otra vez, porque ignoraban constantemente lo que ya habían aprendido de sus antecesores y, en su lugar, a menudo se veían confundidos por las nuevas informaciones o tendencias. En el siglo XXI, los avances en biología celular, genética molecular, diagnóstico por la imagen, biomecánica y biomateriales hacen prever que se puedan diseñar tratamientos personalizados para los pacientes con pie zambo(AU)


Congenital clubfoot treatment has evolved throughout history. Serial manipulations and immobilizations were used from antiquity to the end of the Middle Ages. From the Renaissance to the 17th century the first orthotics were created. In the 18th century, the use of plaster casts began and complex orthotics and footwear developed. The period from 19th century until the third decade of the 20th century was characterized by the practice of tenotomies, with surgery being the main therapeutic approach. In the 20th century, Joseph Kite and Ignacio Ponseti described their effective non-surgical method, which led to the return to serial manipulations and immobilizations in the face of aggressive surgery. When reviewing the history of clubfoot treatment, it is surprising to see that the treating doctors made the same mistakes over and over again because they constantly ignored what they had already learned from their predecessors and, instead, were often confused by the new ones information or trends. In the 21st century, advances in cell biology, molecular genetics, diagnostic imaging, biomechanics and biomaterials suggest that personalized treatments can be designed for patients with clubfoot(AU)


Subject(s)
Humans , Male , Female , Orthopedic Procedures/history , Talipes/congenital , History of Medicine , Therapeutics/history , Therapeutics/methods , Congenital Abnormalities/history , Congenital Abnormalities/therapy , Talipes/history
19.
Arch. argent. pediatr ; 119(2): e129-e132, abril 2021. ilus
Article in Spanish | LILACS, BINACIS | ID: biblio-1152024

ABSTRACT

El síndrome de Saethre-Chotzen es un síndrome malformativo craneofacial caracterizado por una sinostosis de las suturas coronales y alteraciones de extremidades. Tiene una prevalencia de 1 de cada 25 000-50 000 recién nacidos vivos. Se presenta el caso de un neonato sin antecedentes de interés con alteraciones craneofaciales al nacer. Ante los rasgos fenotípicos del paciente, se realizó una tomografía axial computada craneal, que mostró la fusión parcial de la sutura coronal y evidenció la presencia de huesos wormianos en localización metópica y lambdoidea derecha. Con la sospecha clínica de síndrome malformativo craneofacial, se solicitó análisis del exoma dirigido, que confirmó que el paciente era portador heterocigoto de la variante patogénica c.415C>A, que inducía un cambio de prolina a treonina en la posición 139 del gen TWIST1, responsable del síndrome. La presencia de huesos wormianos, hallazgo no descrito hasta ahora en la literatura, amplía la variabilidad fenotípica conocida de este síndrome.


The Saethre-Chotzen syndrome is a craniofacial malformation syndrome characterized by synostosis of coronal sutures and limb anomalies. The estimated prevalence of this syndrome is 1 in 25 000-50 000 live births. We present a case report of a neonate, without relevant family history, who presented craniofacial alterations at birth. Given the phenotypic features, a cranial computed tomography scan was performed, showing partial fusion of the coronal suture, evidencing the presence of wormian bones in the metopic and right lambdoid location. With the clinical suspicion of craniofacial malformation syndrome, an analysis of the directed exome was requested confirming that the patient is a heterozygous carrier of the pathogenic variant c.415C>A, which induces a change of proline to threonine at position 139 of the TWIST1 gene, responsible for Saethre-Chotzen syndrome.The presence of wormian bones, a finding not described so far in the literature, extends the well-known phenotypic variability of this syndrome.


Subject(s)
Humans , Male , Infant, Newborn , Acrocephalosyndactylia , Cranial Sutures/diagnostic imaging , Congenital Abnormalities , Craniosynostoses
20.
Rev. ecuat. pediatr ; 22(1): 1-12, Abril 30, 2021.
Article in English | LILACS | ID: biblio-1222372

ABSTRACT

Introducción: El objetivo del presente estudio fue establecer un modelo predictivo de mor-talidad en recién nacidos de alto riesgo. Métodos: el presente es un estudio epidemiológico, observacional y transversal, realizado en el Hospital Ginecológico Isidro Ayora, Quito, Ecuador, en 2019, incluyó 220 recién nacidos de alto riesgo. Resultados: Se incluyeron 220 Recién nacidos de alto riesgo. No existen asociaciones significativas con factores prenatales, pero sí una relación estadística con el peso, la edad gestacional, el puntaje de APGAR, las necesidades de reanimación y la presencia de anomalías congénitas; también, con shock, hemorragia pulmonar, hiperglucemia, acidosis y estancia hospitalaria. no existen asociaciones significativas con factores prenatales, pero sí una relación estadística con el peso, la edad gestacional, el puntaje de APGAR, las necesidades de reanimación y la presencia de anomalías congénitas; también, con shock, hemorragia pulmonar, hiperglucemia, acidosis y estancia hospitalaria. Conclusión: La presencia de mayor exceso de bases, mínima FiO2, choque séptico, al menos un defecto congénito, con pequeño para la edad gestacional, determina un 80% de probabilidad de muerte. Si el exceso de bases es superior a -12 mEq/L, el lactante tiene 13 veces más probabilidades de morir, y si requiere una FiO2 mínima superior al 29%, tiene 4.2 veces más probabilidades de morir. La fiabilidad del aumento de bases en exceso predice un 76,3% más de riesgo de muerte.


Introduction: The aim of this study was to establish a predictive model of mortality in high-risk newborns. Methods: An epidemiological, observational, and cross-sectional study was carried out at the Isidro Ayora Gynecological Hospital, Quito, Ecuador in 201. The study included 220 high-risk newborns. Results: No significant associations with prenatal factors were found, but a statistical rela-tionship with weight, gestational age, Appearance, Pulse, Grimace, Activity, and Respiration (APGAR) score, resuscitation needs, and the presence of congenital anomalies in addition to shock, pulmonary hemorrhage, hyperglycemia, acidosis, and hospital stay was noted. Conclusion: The presence of a more significant base excess, minimum fraction of inspired oxygen (FiO2), septic shock, and at least one congenital defect with small gestational age determined an 80% probability of death. If the base excess was > −12 mEq/L, the infant was 13 times more likely to die, and if the infant required a minimum FiO2 > 29%, the newborn was 4.2 times more likely to die. The reliability of the excess base increase predicted a 76.3% higher risk of death.


Subject(s)
Intensive Care Units, Neonatal , Infant Mortality , Bayes Theorem , Congenital Abnormalities , Acidosis , Fetal Growth Retardation , Lung Diseases
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