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Id: biblio-887019
Autor: Akoglu, Gulsen; Kesim, Belgin; Yildiz, Gokhan; Metin, Ahmet.
Título: Outcomes of long term treatments of type I hereditary angioedema in a Turkish family
Fonte: An. bras. dermatol;92(5):655-660, Sept.-Oct. 2017. tab, graf.
Idioma: en.
Resumo: Abstract: Background: Hereditary angioedema is a rare autosomal dominantly inherited immunodeficiency disorder characterized by potentially life-threatening angioedema attacks. Objective: We aimed to investigate the clinical and genetic features of a family with angioedema attacks. Methods: The medical history, clinical features and C1-INH gene mutation of a Turkish family were investigated and outcomes of long-term treatments were described. Results: Five members had experienced recurrent swellings on the face and extremities triggered by trauma. They were all misdiagnosed as familial Mediterranean fever (FMF) depending on frequent abdominal pain and were on colchicine therapy for a long time. They had low C4 and C1-INH protein concentrations and functions. A mutation (c.1247T>A) in C1-INH gene was detected. They were diagnosed as having hereditary angioedema with C1-INH deficiency (C1-INH hereditary angioedema) for the first time. Three of them benefited from danazol treatment without any significant adverse events and one received weekly C1 esterase replacement treatment instead of danazol since she had a medical history of thromboembolic stroke. Study limitations: Small sample size of participants. Conclusion: Patients with C1-INH hereditary angioedema may be misdiagnosed as having familial Mediterranean fever in regions where the disorder is endemic. Medical history, suspicion of hereditary angioedema and laboratory evaluations of patients and their family members lead the correct diagnoses of hereditary angioedema. Danazol and C1 replacement treatments provide significant reduction in hereditary angioedema attacks.
Descritores: Danazol/uso terapêutico
Antagonistas de Estrogênios/uso terapêutico
Proteína Inibidora do Complemento C1/genética
Angioedemas Hereditários/tratamento farmacológico
-Linhagem
Fatores de Tempo
Turquia
Sequência de Bases
Amplificação de Genes
Resultado do Tratamento
Proteína Inibidora do Complemento C1/uso terapêutico
Angioedemas Hereditários/diagnóstico
Angioedemas Hereditários/genética
Mutação
Limites: Seres Humanos
Masculino
Feminino
Criança
Adulto
Meia-Idade
Responsável: BR1.1 - BIREME


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Id: biblio-949938
Autor: Reinehr, Clarissa Prieto Herman; Peruzzo, Juliano; Cestari, Tania.
Título: Vohwinkel syndrome: ichthyosiform variant in a family
Fonte: An. bras. dermatol;93(5):723-725, Sept.-Oct. 2018. graf.
Idioma: en.
Resumo: 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 areas. Family evaluation revealed that his mother and other family members were affected. Based on his clinical findings and on family history, the diagnosis of the ichthyotic Vohwinkel syndrome subtype, characterized by generalized ichthyosis and palmoplantar hyperkeratosis, was established.
Descritores: Anormalidades Múltiplas/genética
Deformidades Congênitas da Mão/genética
Ceratodermia Palmar e Plantar/genética
Perda Auditiva Neurossensorial/genética
Ictiose/genética
-Linhagem
Limites: Seres Humanos
Masculino
Pré-Escolar
Tipo de Publ: Relatos de Casos
Responsável: BR1.1 - BIREME


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Id: biblio-1051382
Autor: Eandi Eberle, Silvia; Pepe, Carolina; Aguirre, Fernando; Milanesio, Berenice; Fernández, Diego; Ávalos Gómez, Vanesa; Kinen, Analía; Feliu Torres, Aurora.
Título: Xerocitosis hereditaria. Presentación de dos casos clínicos pediátricos / Hereditary xerocytosis. Presentation of two pediatric cases
Fonte: Arch. argent. pediatr;117(6):684-687, dic. 2019. tab.
Idioma: es.
Resumo: La xerocitosis hereditaria es un desorden poco frecuente causado por defectos en la permeabilidad eritrocitaria, que se caracteriza por anemia hemolítica de gravedad variable y sobrecarga de hierro. El diagnóstico suele ser tardío y confundirse con otras anemias hemolíticas, lo que puede llevar a indicaciones de procedimientos, como la esplenectomía, contraindicados en estos pacientes. Se reportan las características clínicas, hematológicas y moleculares de dos pacientes pediátricos no relacionados con diagnóstico de xerocitosis hereditaria. Ambos presentaban eritrocitos deshidratados con alta concentración de hemoglobina corpuscular media, frotis no patognomónico, marcadores de hemólisis y una curva de fragilidad osmótica resistente. El diagnóstico se confirmó por la secuenciación del gen PIEZO.Se resalta la importancia de reconocer la causa de la anemia hemolítica para dar un enfoque terapéutico preciso y dar adecuado consejo genético

Hereditary xerocytosis is a rare disorder caused by defects of red blood cell permeability that are characterized by hemolytic anemia of variable degree and iron overload. Diagnosis is usually late and confused with other hemolytic anemias, which can lead to procedural indications, such as splenectomy, contraindicated in these patients. We report the clinical, haematological, and molecular characteristics of two patients from two unrelated families affected by hereditary xerocytosis. Both patients had dehydrated erythrocytes with a high concentration of mean corpuscular hemoglobin, non-pathognomonic smears, markers of hemolysis and a resistant osmotic fragility curve. The diagnosis was confirmed by the sequencing of the PIEZO gene. We emphasize the importance of recognizing the cause of hemolytic anemia to give an accurate therapeutic approach and give adequate genetic counseling.
Descritores: Hidropisia Fetal/diagnóstico
Anemia Hemolítica Congênita/diagnóstico
Mutação
-Linhagem
Hemoglobinas/análise
Sobrecarga de Ferro
Índices de Eritrócitos
Anemia Hemolítica Congênita/complicações
Anemia Hemolítica Congênita/genética
Anemia Hemolítica Congênita/sangue
Icterícia Neonatal
Limites: Seres Humanos
Masculino
Feminino
Criança
Adolescente
Tipo de Publ: Relatos de Casos
Responsável: AR94.1 - Centro de Información Pediatrica


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Id: biblio-1001137
Autor: Chaibub, Sulamita Costa Wirth.
Título: High prevalence of psoriasis in a family from Goiás State, Brazil
Fonte: An. bras. dermatol;94(2):245-246, Mar.-Apr. 2019. graf.
Idioma: en.
Descritores: Psoríase/genética
-Linhagem
Psoríase/epidemiologia
Brasil/epidemiologia
Saúde da Família
Prevalência
Distribuição por Sexo
Padrões de Herança/genética
Limites: Seres Humanos
Masculino
Feminino
Tipo de Publ: Relatos de Casos
Carta
Responsável: BR1.1 - BIREME


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Id: biblio-886952
Autor: Xiao-Kai, Fang; Yue-Xi, He; Yan-Jia, Li; Li-Rong, Chen; He-Peng, Wang; Qing, Sun.
Título: Familial progressive hyper- and hypopigmentation: a report on a Chinese family and evidence for genetic heterogeneity
Fonte: An. bras. dermatol;92(3):329-333, May-June 2017. tab, graf.
Idioma: en.
Projeto: Undergraduates Science and Technology Innovation Foundation of Shandong University.
Resumo: Abstract Background: Familial progressive hyper- and hypopigmentation (FPHH) is a rare genodermatosis that is characterized by diffuse hyper- and hypopigmented spots on the skin and mucous membranes. It is caused by a pathogenic mutation of the KITLG gene. Objectives: To investigate the clinical features and mutation of the KITLG gene in a Chinese family with FPHH. Methods: Histopathological and immunohistochemical analysis of lesions from the proband was performed. The KITLG gene was screened for the presence of mutations. Results: A Chinese family containing 14 individuals with FPHH was described, and the proband was a 5-year-old girl showing diffuse hyper- and hypopigmented lesions on her extremities and trunk. Histopathological and immunohistochemical staining for S100 and HMB45 of skin biopsy specimens from the hyperpigmented areas showed a striking increase in melanin throughout the epidermis, especially in the basal cell layer, and staining of hypopigmented area specimens displayed lower levels of melanin in the epidermis. Mutation analysis of the KITLG gene was performed, but no mutation was found. Study limitations: The new pathogenic gene was not found. Conclusion: A family with FPHH was described. Analysis revealed that its members did not have any mutations of the KITLG gene, which provided evidence for genetic heterogeneity of this genodermatosis.
Descritores: Hipopigmentação/genética
Hiperpigmentação/genética
Heterogeneidade Genética
Mutação/genética
-Linhagem
Imuno-Histoquímica
Hipopigmentação/patologia
Hiperpigmentação/patologia
Grupo com Ancestrais do Continente Asiático
Limites: Seres Humanos
Masculino
Feminino
Pré-Escolar
Responsável: BR1.1 - BIREME


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Id: biblio-887410
Autor: Callea, Michele; Fattori, Fabiana; Bertini, Enrico S; Yavuz, Izzet; Bellacchio, Emanuele; Avendaho, Andrea; Araque, Dianora; Lacruz-Rengel, Maria A; Da Silva, Gloria; Cammarata-Scalisi, Francisco.
Título: Estudio dínico y molecular en una familia con displasia cleidocraneal / Clinical and molecular study in a family with cleidocranial dysplasia
Fonte: Arch. argent. pediatr;115(6):440-444, dic. 2017. ilus, tab.
Idioma: es.
Resumo: La displasia cleidocraneal es una displasia ósea infrecuente con patrón de herencia autosómico dominante, que se caracteriza por presentar talla baja, fontanelas amplias, hipoplasia mediofacial, ausencia o hipoplasia de clavículas y alteraciones orodentales. Es producida por mutaciones en el gen RUNX2 localizado en 6p21.1. Se presentan dos adolescentes masculinos (primos hermanos) con displasia cleidocraneal, los cuales mostraron mutación heterocigota, cambio de sentido (c.674G>A, p.R225Q) en el gen RUNX2, caracterizados por presentar fenotipo grave, como ausencia de clavículas, pero con variación en el retardo en el cierre de fontanelas, alteraciones dentales (anomalías en forma y número) y escoliosis, por lo que se demuestra la variación intrafamiliar en estos pacientes con el mismo genotipo.

Cleidocranial dysplasia is an uncommon bone dysplasia with an autosomal dominant inheritance pattern characterized by short stature, large fontanels, midface hypoplasia, absence or hypoplasia of clavicles and orodental alterations. This is produced by mutations in the RUNX2 gene located at 6p21.1. We report two male adolescents (cousins), with cleidocranial dysplasia who presented a heterozygous missense mutation (c.674G> A, p.R225Q) in the RUNX2 gene, characterized by severe phenotype, such as absent clavicles, but with variation in the delayed fontanel closure, dental abnormalities (anomalies in shape and number) and scoliosis, thus demonstrating intrafamilial variation in these patients with the same genotype.
Descritores: Displasia Cleidocraniana/genética
Subunidade alfa 1 de Fator de Ligação ao Core/genética
-Linhagem
Fenótipo
Displasia Cleidocraniana/diagnóstico
Displasia Cleidocraniana/diagnóstico por imagem
Limites: Seres Humanos
Masculino
Adolescente
Tipo de Publ: Relatos de Casos
Responsável: AR94.1 - Centro de Información Pediatrica


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Id: biblio-887328
Autor: Enacán, Rosa E; Masnata, María E; Belforte, Fiorella; Papendieck, Patricia; Olcese, María C; Siffo, Sofía; Gruñeiro-Papendieck, Laura; Targovnik, Héctor; Rivolta, Carina M; Chiesa, Ana E.
Título: Hipotiroidismo congénito transitorio por defectos bialélicos del genDUOX2. Dos casos clínicos / Transient congenital hypothyroidism due to biallelic defects of DUOX2 gene. Two clinical cases
Fonte: Arch. argent. pediatr;115(3):162-165, jun. 2017. ilus.
Idioma: es.
Resumo: El hipotiroidismo congénito afecta a 1:2000-3000 recién nacidos detectados por pesquisa neonatal. Las oxidasas duales, DUOX1 y 2, generan agua oxigenada, lo que constituye un paso crítico en la síntesis hormonal. Se han comunicado mutaciones en el gen DUOX2 en casos de hipotiroidismo congénito transitorio y permanente. Se describen dos hermanos con hipotiroidismo congénito detectados por pesquisa neonatal, con glándula tiroides eutópica y tiroglobulina elevada. Recibieron levotiroxina hasta su reevaluación en la infancia con suspensión del tratamiento. Su función tiroidea fue normal y se consideró el cuadro como transitorio por un posible defecto de organificación. Ambos pacientes eran heterocigotos compuestos para una mutación en el exón 9 del alelo paterno (c.1057_1058delTT, p.F353PfsX36 o p.F353fsX388) y otra en el exón 11 del alelo materno (c.1271T>G, p.Y425X) del gen DUOX2. Nuestro hallazgo confirma que la magnitud del defecto de DUOX2 no se relaciona con el número de alelos afectados, lo que sugiere mecanismos compensadores en la generación de peróxido.

Congenital hypothyroidism affects 1:2000-3000 newborns detected by neonatal screening programs. Dual oxidases, DUOX1 and 2, generate hydrogen peroxide needed for the thyroid hormone synthesis. Mutations in the DUOX2 gene have been described in transient and permanent congenital hypothyroidism. Two brothers with congenital hypothyroidism detected by neonatal screening with eutopic gland and elevated thyroglobulin are described. They were treated with levothyroxine until it could be suspended in both during childhood, assuming the picture as transient. Organification disorder was confirmed. Both patients were compounds heterozygous for a mutation in exon 9 of the paternal allele (c.1057_1058delTT, p.F353PfsX36 or p.F353fsX388) and in exon 11 of the maternal allele (c.1271T > G, p.Y425X) of DUOX2 gene. Our finding confirms that the magnitude of the defect of DUOX2 is not related to the number of inactivated alleles, suggesting compensatory mechanisms in the peroxide supply
Descritores: Hipotireoidismo Congênito/genética
Oxidases Duais/genética
Mutação
-Linhagem
Limites: Seres Humanos
Masculino
Feminino
Recém-Nascido
Tipo de Publ: Relatos de Casos
Responsável: AR94.1 - Centro de Información Pediatrica


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Id: biblio-838328
Autor: Callea, Michele; Cammarata-Scalisi, Francisco; Willoughby, Colin E; Giglio, Sabrina R; Sani, Ilaria; Bargiacchi, Sara; Traficante, Giovanna; Bellacchio, Emanuele; Tadini, Gianluca; Yavuz, Izzet; Galeotti, Angela; Clarich, Gabriella.
Título: Estudio dínico y molecular en una familia con displasia ectodermica hipohidrotica autosomica dominante / Clinical and molecular study in a family with autosomal dominant hypohidrotic ectodermal dysplasia
Fonte: Arch. argent. pediatr;115(1):e34-e38, feb. 2017. ilus.
Idioma: es.
Resumo: La displasia ectodérmica hipohidrótica (DEH) es una entidad infrecuente caracterizada por deficiencia en el desarrollo de estructuras derivadas del ectodermo y es causada por mutaciones en los genes EDA, EDAR o EDARADD, que pueden exhibir hallazgos clínicos similares, debido a una vía de señalización común. Las mutaciones en el gen EDA causan la DEH ligada al X, que es la forma más frecuente. Por su parte, las mutaciones en los genes EDAR y EDARADD causan la DEH con patrón de herencia autosómica dominante y recesiva. Los hallazgos clínicos más resaltantes son hipodoncia, hipotricosis e hipohidrosis, que pueden llevar a episodios de hipertermia. Se presentan los hallazgos clínicos en un niño con DEH con patrón de herencia autosómica dominante, cuyo análisis molecular demostró mutación heterocigótica c.1072C>T (p.Arg358X) en el gen EDAR, y se discuten los diferentes aspectos clínicos encontrados en esta mutación en los casos descritos en la literatura.

Hypohidrotic ectodermal dysplasia (HED) is a rare disease characterized by deficiency in development of structure derived from the ectoderm and is caused by mutations in the genes EDA, EDAR, or EDARADD. Phenotypes caused by mutations in these three may exhibit similar clinical features, explained by a common signaling pathway. Mutations in EDA gene cause X linked HED, which is the most common form. Mutations in EDAR and EDARADD genes cause autosomal dominant and recessive form of HED. The most striking clinical findings in HED are hypodontia, hypotrichosis and hypohidrosis that can lead to episodes of hyperthermia. We report on clinical findings in a child with HED with autosomal dominant inheritance pattern with a heterozygous mutation c.1072C>T (p.Arg358X) in the EDAR gene. A review of the literature with regard to other cases presenting the same mutation has been carried out and discussed.
Descritores: Displasia Ectodérmica Anidrótica Tipo 1/diagnóstico
Displasia Ectodérmica Anidrótica Tipo 1/genética
-Linhagem
Receptor Edar
Mutação
Limites: Seres Humanos
Masculino
Pré-Escolar
Tipo de Publ: Relatos de Casos
Responsável: AR94.1 - Centro de Información Pediatrica


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Id: biblio-838308
Autor: Morlán Herrador, Laura; de Arriba, Antonio; Miguel, Gloria; Ferrer, Marta; Labarta, José I.
Título: Estudio de carcinoma medular de tiroides a partir de un caso índice / Study of Medullary Thyroid Carcinoma from a proband
Fonte: Arch. argent. pediatr;114(6):e421-e424, dic. 2016. ilus.
Idioma: es.
Resumo: El carcinoma de tiroides es un tumor infrecuente; constituye menos del 1% de las neoplasias malignas en la población general y el 0,5%-3% en la edad pediátrica. Existen cuatro tipos: papilar (80%-90% de los casos), folicular (5%-10%), medular (5%) y anaplásico (2%-3%). En el tipo medular, el 80% son esporádicos, y un 20% se asocia a un síndrome hereditario que se divide, fundamentalmente, en tres grupos: neoplasia endócrina múltiple 1, neoplasia endócrina múltiple 2 y carcinoma medular de tiroides familiar. Las formas hereditarias se producen por una mutación en el protooncogén RET, localizado en el brazo largo del cromosoma 10. Se presenta un caso de carcinoma medular de tiroides detectado a raíz de un estudio genético familiar con el propósito de resaltar la importancia del diagnóstico precoz y la intervención de equipos multidisciplinares expertos en esta patología para su manejo y seguimiento.

Thyroid cancer is an uncommon type of cancer, accounting less than 1% of all cancers in adults, and 0.5-3% of all cancers in children. There are four different types: papillary carcinoma (80-90% of cases), follicular (5-10%), medullary (5%) and anaplastic cell (2-3%). Eighty per cent of cases of medullary thyroid cancer are sporadic, but 20% are associated with an inherited syndrome that is divided into three groups: multiple endocrine neoplasia type 1, multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma. The inherited forms are caused by a disruption in the RET oncogene, which is located in the long arm of chromosome 10. A hereditary case of medullary thyroid carcinoma is presented. It was detected because of a familial genetic study. The purpose of the paper is emphasize the importance of the early diagnosis and the intervention of multidisciplinary teams of experts.
Descritores: Neoplasias da Glândula Tireoide/genética
Carcinoma Neuroendócrino/genética
-Linhagem
Neoplasias da Glândula Tireoide/diagnóstico
Neoplasias da Glândula Tireoide/terapia
Carcinoma Neuroendócrino/diagnóstico
Carcinoma Neuroendócrino/terapia
Limites: Seres Humanos
Feminino
Pré-Escolar
Tipo de Publ: Relatos de Casos
Responsável: AR94.1 - Centro de Información Pediatrica


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Id: biblio-889075
Autor: Wu, Xiaowei; Li, Changxin; Mao, Jinming; Li, Ling; Liu, Yan; Hou, Yao.
Título: Heterozygous HTRA1 missense mutation in CADASIL-like family disease
Fonte: Braz. j. med. biol. res = Rev. bras. pesqui. méd. biol;51(5):e6632, 2018. graf.
Idioma: en.
Projeto: Applied and Basic Research Project.
Resumo: The aim of this study was to find related pathogenic genes in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy in (CADASIL)-like patients. The direct sequencing and high-throughput multiplex polymerase chain reaction (PCR) was performed to screen for related genes. The clinical and imaging data of a CADASIL-like patient (the pro-band) and his family members were collected. At first, the known hereditary cerebral vascular genes of the pro-band were screened with direct sequencing to find candidate gene mutations. High-throughput multiplex PCR was then used to analyze the single nucleotide polymorphism of the candidate gene in the family members. The results showed that there was missense mutation of the high temperature requirement protease A1 (HTRA1) gene in the pro-band, which may be a pathogenic factor according to the biological software analysis. The following SNP results revealed that the other family members also had the HTRA1 gene mutation. Thus, the CADASIL-like family disease may be caused by heterozygous HTRA1 gene mutation, which leads to autosomal dominant hereditary cerebral small vessel disease.
Descritores: Mutação de Sentido Incorreto/genética
CADASIL/genética
Serina Peptidase 1 de Requerimento de Alta Temperatura A/genética
-Linhagem
Predisposição Genética para Doença
Polimorfismo de Nucleotídeo Único
Reação em Cadeia da Polimerase Multiplex
Genótipo
Heterozigoto
Limites: Seres Humanos
Masculino
Feminino
Adulto
Responsável: BR1.1 - BIREME



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