Hypothalamic Hamartoma
Mostrando 1-8 de 8 artigos, teses e dissertações.
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1. Extra-pituitary midline structural abnormalities associated with ectopic posterior pituitary detected on a new rapid MRI protocol (FAST1.2)
ABSTRACT Objective: Test if the MRI FAST1.2 protocol can detect extra-pituitary midline structural brain abnormalities in patients with ectopic posterior pituitary (EPP), and highlighting their radiological-laboratory correlations. Subjects and methods: Cross-sectional study of patients with EPP and control group. All individuals were submitted to FAST1.2,
Archives of Endocrinology and Metabolism. Publicado em: 2022
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2. Estudo dos genes TTF-1 e EAP1 em pacientes com distúrbios puberais centrais e avaliação neurológica e neurocognitiva de pacientes com hamartoma hipotalâmico / Analysis of TTF-1 and EAP1 genes in patients with central pubertal disorders and neurologic and neurocognitive evaluation of patients with hypothalamic hamartoma
O mecanismo de controle da secreção de GnRH inclui diversas vias neuronais. Estudos em modelos animais identificaram genes que codificam fatores de transcrição, tais como TTF-1 (thyroid transcription factor 1) e EAP1 (enhanced at puberty), que atuam no controle transcricional de genes codificadores de fatores excitatórios (KiSS1 e GnRH) e inibitórios (
Publicado em: 2010
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3. Precocious puberty due to a hypothalamic hamartoma in a patient surviving to late middle age
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4. Pubertas praecox due to hypothalamic hamartoma: report of two cases surviving surgical removal of the tumour.
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5. Exclusion of candidate loci and cholesterol biosynthetic abnormalities in familial Pallister-Hall syndrome.
Pallister-Hall syndrome (PHS) was originally described in 1980 in six sporadic cases of children with structural anomalies including hypothalamic hamartoma, polydactyly, imperforate anus, and renal and pulmonary anomalies. In 1993, the first familial cases were reported, including affected sibs and vertical transmission. Three of these families are sufficien
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6. One‐year‐old male with accelerated growth and development
A 1‐year‐old male child with isosexual central (gonadotropin‐dependent) precocious puberty caused by hypothalamic hamartoma is reported. Details of the diagnosis based solely on neuromaging characteristics, and satisfactory results of medical treatment with gonadotropin releasing hormone agonist analogues, are highlighted.
BMJ Group.
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7. Stringent delineation of Pallister-Hall syndrome in two long surviving patients: importance of radiological anomalies of the hands.
We report two unrelated, long surviving patients (2 and 17 years) with syndromal hypothalamic hamartoblastoma. Both showed mild facial dysmorphism (downward slanted palpebral fissures, ptosis, microretrognathia), cleft epiglottis, and developmental delay. The younger child had stenosis of the pulmonary arteries, complex urogenital malformations, and anal atr
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8. Linkage mapping and phenotypic analysis of autosomal dominant Pallister-Hall syndrome.
Pallister-Hall syndrome is a human developmental disorder that is inherited in an autosomal dominant pattern. The phenotypic features of the syndrome include hypothalamic hamartoma, polydactyly, imperforate anus, laryngeal clefting, and other anomalies. Here we describe the clinical characterisation of a family with 22 affected members and the genetic mappin