ABSTRACT Purpose: The underlying genetic causes of keratoconus are essentially unknown. Here, we conducted whole-exome sequencing in 2 Brazilian families with keratoconus. Methods: Whole-exome sequencing was performed on 6 keratoconus-affected individuals of 2 unrelated pedigrees from Southern Brazil. ...
ABSTRACT Introduction Gigantism is a rare pediatric disease characterized by increased production of growth hormone (GH) before epiphyseal closure, that manifests clinically as tall stature, musculoskeletal abnormalities, and multiple comorbidities. Materials and methods Case series of 6 male patient...
Adenoma/diagnóstico,
Adenoma/terapia,
Colombia,
Estudios de Seguimiento,
Gigantismo/diagnóstico,
Gigantismo/terapia,
Hormona del Crecimiento/sangre,
Adenoma Hipofisario Secretor de Hormona del Crecimiento/genética,
Factor I del Crecimiento Similar a la Insulina/análisis,
Péptidos y Proteínas de Señalización Intracelular/genética,
Mutación/genética,
Linaje,
Neoplasias Hipofisarias/diagnóstico,
Neoplasias Hipofisarias/terapia,
Estudios Retrospectivos,
Distribución por Sexo,
Resultado del Tratamiento
ABSTRACT Objective Paraganglioma (PGL) and pheochromocytoma (PCC) are rare neuroendocrine tumors that were considered to be predominantly sporadic. However, with the identification of novel susceptibility genes over the last decade, it is currently estimated that up to 40% of cases can occur in the con...
SUMMARY Hypophosphatasia is a rare inborn error of metabolism characterized by low serum alkaline phosphatase activity due to loss-of-function mutations in the gene encoding the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP). Extracellular accumulation of TNSALP substrates leads to dento-o...
OBJETIVO: Determinar la factibilidad de la identificación genética a un grupo de recién nacidos prove nientes de un hospital público de Lima-Perú. MATERIAL Y MÉTODO: Estudio descriptivo de corte trans versal, realizado por Registro de Identificación y Estado Civil de Perú, en recién nacidos viv...
Pruebas Genéticas/métodos,
Tamizaje Neonatal/métodos,
Linaje,
Estudios Transversales,
Electroforesis Capilar,
Estudios de Factibilidad,
Marcadores Genéticos,
Errores Médicos/prevención & control,
Repeticiones de Microsatélite,
Perú,
Proyectos Piloto,
Reacción en Cadena de la Polimerasa
Abstract: Vohwinkel syndrome belongs to the group of hereditary palmoplantar keratoderma, having an autosomal dominant inheritance. In this report, the authors present a case of a four-year-old boy with diffuse scaling over his entire body and transgredient palmoplantar hyperkeratosis with some fissured ...
Mastellaro, Maria J;
Ribeiro, Raul C;
Oliveira-Filho, Antônio G;
Seidinger, Ana L;
Cardinalli, Izilda A;
Miranda, Eliana C M;
Aguiar, Simone S;
Brandalise, Silvia R;
Yunes, José A;
Barros-Filho, Antônio A.
Abstract Objective: To evaluate the clinical features associated with adrenocortical hormone overexpression and familial cancer profiling as potential markers for early detection of adrenocortical tumors in children from South and Southeast Brazil. Methods: The clinical manifestations and anthropometri...
ABSTRACT The gens Julia was one of the oldest families in ancient Rome, whose members reached the highest positions of power. They made history because Julius Caesar, perpetual dictator, great-uncle of the first emperor, Augustus, passed his name on to the Julio-Claudian dynasty with the emperors Tiberiu...
Lopes, LB;
Abreu, CC;
Souza, CF;
Guimaraes, LER;
Silva, AA;
Aguiar-Alves, F;
Kidd, KO;
Kmoch, S;
Bleyer, AJ;
Almeida, JR.
Autosomal dominant tubulointerstitial kidney disease (ADTKD) is characterized by autosomal dominant inheritance, progressive chronic kidney disease, and a bland urinary sediment. ADTKD is most commonly caused by mutations in the UMOD gene encoding uromodulin (ADTKD-UMOD). We herein report the first confi...
