RESUMO
The telomeres of gorilla, chimpanzee and human peripheral blood cells have been examined by hybridization to an oligonucleotide probe, (TTAGGG)4, following conventional and pulsed-field electrophoresis procedures. The MspI site present near the chromosome terminus undergoes methylation in gorilla, chimpanzee and human genome as shown by the HpaII digestion. Minor (TTAGGG)4-hybridizing sequences have been also detected in the chimpanzee HindIII and MspI digests.
Assuntos
Gorilla gorilla/genética , Pan troglodytes/genética , Telômero/genética , Animais , Sequência de Bases , Southern Blotting , Sequência Conservada , Sondas de DNA/química , Desoxirribonuclease HindIII , Desoxirribonucleases de Sítio Específico do Tipo II/química , Desoxirribonucleases de Sítio Específico do Tipo II/metabolismo , Humanos , Hibridização In Situ , Metilação , Mapeamento por Restrição , Telômero/químicaRESUMO
Empty sella syndrome (ESS) is a condition in which the sella turcica is partially or completely filled with cerebrospinal fluid resulting in a displacement of the normal pituitary. The condition is more common and benign in adults, although associated endocrine abnormalities have been reported. In children and adolescents, the syndrome is rare (27 reported cases), and the clinical picture is much less benign, with an increase in familial incidence, associated skeletal disorders, and endocrine abnormalities. Definitive diagnosis can be made by CT scan of the head. Our case report is of an adolescent who appeared clinically to have growth retardation and normal endocrine function. The CT scan of the head was compatible with ESS. Further follow-up showed improved growth rate. Although our patient did not appear to have symptoms related to ESS, based on the literature we agree that this syndrome is much less benign in children and adolescents than in adults.
Assuntos
Síndrome da Sela Vazia/diagnóstico , Encéfalo/diagnóstico por imagem , Criança , Síndrome da Sela Vazia/complicações , Feminino , Transtornos do Crescimento/etiologia , Humanos , Tomografia Computadorizada por Raios XRESUMO
We studied 21 women from four definite adrenoleukodystrophy (ALD) kinships . Nine women had a spastic paraparesis, including two with peripheral neuropathy. Fifteen women were assigned heterozygote status based on abnormal very-long-chain fatty acid ( VLCFA ) concentrations in plasma, fibroblasts, or both. These 15 included those with abnormal examinations and all women judged to be carriers by clinical criteria. Some ALD heterozygotes have varying degrees of neurologic disease, usually spastic paraparesis. Carrier detection is possible by determination of VLCFA concentrations in plasma and cultured skin fibroblasts. Any woman at risk in an ALD kinship, and who demonstrates a spastic paraparesis, should be assumed to be a carrier until biochemical testing is obtained. To determine whether a woman is an ALD carrier, measurement of plasma VLCFA levels should be done initially. If this gives normal or equivocal results, VLCFA levels should be measured in cultured skin fibroblasts.
Assuntos
Adrenoleucodistrofia/metabolismo , Esclerose Cerebral Difusa de Schilder/metabolismo , Ácidos Graxos/metabolismo , Triagem de Portadores Genéticos , Adolescente , Adrenoleucodistrofia/genética , Adulto , Idoso , Criança , Pré-Escolar , Feminino , Humanos , Pessoa de Meia-Idade , LinhagemRESUMO
Adrenoleukodystrophy (ALD) is a fatal X-linked disorder of very long chain fatty acid (VLCFA) metabolism manifested by disease of the central and peripheral nervous systems and the adrenals. X-linked Addison disease alone, as an expression of ALD, has not been previously reported. We present the results of our study of a unique family among whom clinically apparent Addison disease without neurologic involvement has occurred in affected males, and spastic paraparesis has occurred in female carriers. The presence of ALD was confirmed by VLCFA determination in cultured skin fibroblasts. A comparison group of patients with Addison disease on a putative immunopathogenic basis was normal.
Assuntos
Doença de Addison/genética , Doenças das Glândulas Suprarrenais/genética , Doenças do Sistema Nervoso Central/genética , Doenças Desmielinizantes/genética , Doenças do Sistema Nervoso Periférico/genética , Doença de Addison/metabolismo , Adolescente , Doenças das Glândulas Suprarrenais/metabolismo , Adulto , Idoso , Doenças do Sistema Nervoso Central/metabolismo , Criança , Doenças Desmielinizantes/metabolismo , Ácidos Graxos/metabolismo , Feminino , Fibroblastos/metabolismo , Ligação Genética , Humanos , Masculino , Linhagem , Doenças do Sistema Nervoso Periférico/metabolismo , Pele , Cromossomo XAssuntos
Traumatismos em Atletas/epidemiologia , Adolescente , Adulto , Criança , Feminino , Humanos , Masculino , Minnesota , PatinaçãoRESUMO
Our experience in 1,024 computed tomography examinations of the head in 954 infants and children performed in a private office is reported. Immobilization in infants was achieved using relatively large dosages of chloral hydrate (as high as 75 mg/kg) supplemented, when necessary, by I.M. Benadryl. The usual dose of chloral hydrate recommended for children is 25 mg/kg as a sedative and 50 mg/kg as a hypnotic. Satisfactory immobilization was accomplished in 350 of the 360 children under 6 years of age. Thus, routine general anesthesia was avoided. The wide spectrum of conditions demonstrated has been tabulated and selectively illustrated.
