RESUMO
PURPOSE: To summarize a conference convened to examine how cystic fibrosis screening might appropriately be introduced into routine prenatal practice. METHODS: Participants included experts from various relevant disciplines. Systematic reviews and data from individual trials were presented; issues were identified and discussed. RESULTS: Judged by published criteria, prenatal cystic fibrosis screening is suitable for introduction. Screening can be performed cost-effectively by identifying racial/ethnic groups at sufficient risk and then using either of two models for delivering laboratory services. Validated educational materials exist. Ethical issues are not unique. CONCLUSIONS: Once adequate facilities for patient and provider education, testing, counseling, quality control, and monitoring are in place, individual programs can begin prenatal screening for cystic fibrosis.
Assuntos
Fibrose Cística/diagnóstico , Fibrose Cística/genética , Aconselhamento Genético , Testes Genéticos , Diagnóstico Pré-Natal , Ensaios Clínicos como Assunto , Revelação , Ética Médica , Feminino , Aconselhamento Genético/economia , Aconselhamento Genético/tendências , Testes Genéticos/economia , Testes Genéticos/tendências , Humanos , Masculino , Mutação , Diagnóstico Pré-Natal/economia , Diagnóstico Pré-Natal/tendências , Relações Profissional-Paciente , Fatores de RiscoRESUMO
The pattern and rate of consultation from a family practice residency program inpatient service were examined. The most frequently consulted medical specialty was cardiology; the most frequently consulted surgical specialty was general surgery. The overall consultation rate was 50%. The consultation rates for the most frequent discharge diagnoses were examined. Pediatric admissions were less likely to received consultations than adult or geriatric admissions. The results of this study suggest that family physicians are able to manage most of their hospitalized patients without consultation.
Assuntos
Medicina de Família e Comunidade/estatística & dados numéricos , Internato e Residência/estatística & dados numéricos , Encaminhamento e Consulta/estatística & dados numéricos , Diagnóstico , Hospitalização/estatística & dados numéricos , Humanos , Medicina/estatística & dados numéricos , Estudos Retrospectivos , South Carolina , EspecializaçãoRESUMO
Hypertension and proteinuria were observed in a 2-year-old child with type IA (von Gierke's) glycogen storage disease (GSD). She had evidence of hyperfiltration and had elevated selective renal vein renins. On renal biopsy, increased mesangial cell matrix and cellularity were observed with focal thickening and irregularity of the basement membrane. This case may be representative of the early renal findings in type IA GSD.
Assuntos
Doença de Depósito de Glicogênio Tipo I/complicações , Hipertensão Renal/etiologia , Nefropatias/patologia , Feminino , Glicogênio/análise , Doença de Depósito de Glicogênio Tipo I/metabolismo , Doença de Depósito de Glicogênio Tipo I/patologia , Histocitoquímica , Humanos , Hipertensão Renal/patologia , Lactente , Rim/análise , Rim/ultraestrutura , Nefropatias/etiologia , Nefropatias/metabolismo , ProteinúriaAssuntos
Doença de Depósito de Glicogênio Tipo III/fisiopatologia , Doença de Depósito de Glicogênio/fisiopatologia , Insuficiência Cardíaca/etiologia , Miocárdio/enzimologia , Adulto , Biópsia , Feminino , Sistema da Enzima Desramificadora do Glicogênio/deficiência , Doença de Depósito de Glicogênio Tipo III/complicações , Humanos , Fosforilases/metabolismo , Gravidez , Complicações Cardiovasculares na Gravidez/fisiopatologiaRESUMO
We have defined a new autosomal recessive disorder in patients stemming from a small community in northern Mexico. Diagnosable at birth, its major symptoms include brittle hair, mental retardation, and nail dysplasia. Structural hair abnormalities are seen by both light and electron microscopy. Hair cystine content is reduced while the copper/zinc ratio in hair is increased.
Assuntos
Genes Recessivos , Doenças do Cabelo/genética , Deficiência Intelectual/genética , Unhas Malformadas/genética , Adolescente , Adulto , Aminoácidos/análise , Cobre/análise , Cistina/análise , Feminino , Cabelo/análise , Humanos , Masculino , México , Microscopia Eletrônica , Linhagem , Síndrome , Zinco/análiseRESUMO
A metallothionein-like protein (MTP) is synthesized in normal diploid human skin fibroblasts cultured in Zn- or Cu-supplemented medium. Synthesis of MTP is not detected in cells cultured without metal supplementation of complete tissue-culture medium. Cultured fibroblasts from patients with Menkes' disease accumulate excess Cu which chromatographs both with high-molecular-weight protein(s) and with a Cu-MTP. Under normal culture conditions, the Menkes' MTP incorporates [35S]-cystine, but not appreciable amounts of 65Zn. However, Menkes fibroblasts retain the ability to incorporate 65Zn into MTP in response to Zn supplementation of the medium. The results do not support the idea that Menkes' disease results from a failure of Cu to bind to MTP, but rather that an elevated intracellular Cu concentration in Menkes' disease fibroblasts leads to association of excess Cu with high-molecular-weight protein, stimulating synthesis of a Cu-binding MTP.
Assuntos
Encefalopatias Metabólicas/metabolismo , Cobre/metabolismo , Síndrome dos Cabelos Torcidos/metabolismo , Metaloproteínas/biossíntese , Metalotioneína/biossíntese , Células Cultivadas , Cobre/farmacologia , Cistina/metabolismo , Fibroblastos , Humanos , Pele , Zinco/metabolismo , Zinco/farmacologiaRESUMO
We demonstrate that glucose-6-phosphatase, pyrophosphate-glucose phosphotransferase, carbamyl phosphate-glucose phosphotransferase and inorganic pyrophosphatase activities are deficient in livers of patients with type I glycogen storage disease. This provides strong genetic evidence that these enzymatic activities reside in a single protein or share a common polypeptide chain.
Assuntos
Glucose-6-Fosfatase/metabolismo , Fosfotransferases/metabolismo , Pirofosfatases/metabolismo , Carbamoil-Fosfato/metabolismo , Difosfatos/metabolismo , Glucose/metabolismo , Doença de Depósito de Glicogênio Tipo I/metabolismo , Humanos , Fígado/enzimologiaRESUMO
A 14-year-old white girl with mild dysostosis multiplex, odontoid hypoplasia, short stature, cloudy corneas, keratansulfaturia, but without detectable central nervous system abnormalities was referred with the diagnosis of Morquio syndrome. Clinical and roentgenographic findings were minimal compared to those of typical patients with the Morquio syndrome, MPS IV. Beta-Galactosidase activity in extracts of the patient's cultured fibroblasts was deficient, while that of galactosamine-6-sulfate sulfatase was normal. Conjunctival biopsy revealed intracytoplasmic vacuoles typical of lysosomal storage diseases. It is postulated that in this patient the deficiency of a beta-galactosidase is responsible for inadequate degradation of keratan sulfate and the appearance of a mild form of the Morquio syndrome (MPS IVB).
Assuntos
Variação Genética , Intolerância à Lactose , Mucopolissacaridose IV/genética , Sulfatases/metabolismo , Adolescente , Feminino , Galactosamina/metabolismo , Humanos , Mucopolissacaridose IV/diagnóstico por imagem , Mucopolissacaridose IV/enzimologia , Radiografia , Pele/enzimologiaRESUMO
In older patients with glucose-6-phosphatase deficiency adenomatous nodules develop within the liver parenchyma. Investigation of eight such patients, age 3 to 28 years, using radioisotopic scans, has demonstrated areas of depressed isotope uptake in the liver in all except the one preteenaged child. Three patients were further studied with hepatic angiograms and liver biopsy specimens. A diffuse nodularity, more widespread than apparent on isotopic scans, was demonstrated on angiograms. Although initial histologic study in each case showed adenomatous tissue without evidence of neoplasm, the development of hepatocellular carcinoma in one of our patients and in others from the literature suggests that the nodules may be premalignant.
Assuntos
Carcinoma Hepatocelular/patologia , Doença de Depósito de Glicogênio Tipo I/patologia , Neoplasias Hepáticas/patologia , Lesões Pré-Cancerosas/patologia , Adolescente , Adulto , Fatores Etários , Carcinoma Hepatocelular/diagnóstico , Pré-Escolar , Glucofosfatos/metabolismo , Hepatomegalia/patologia , Humanos , Glicogênio Hepático/metabolismo , Neoplasias Hepáticas/diagnóstico , CintilografiaRESUMO
Three patients with typical features of mannosidosis and deficiency of alpha-mannosidase activity, who were examined ophthalmologically, had similar lenticular opacities. Corneal opacities were absent. Chamber angle and striking ophthalmoscopic anomalies occurred in two young patients who had normal electroretinograms. Two patients had strabismus. Conjunctival biopsy specimens morphologically confirmed the lysosomal nature of this disorder.
Assuntos
Erros Inatos do Metabolismo dos Carboidratos/complicações , Manifestações Oculares , Manose/metabolismo , Catarata/complicações , Pré-Escolar , Túnica Conjuntiva/patologia , Feminino , Humanos , Masculino , Manosidases/deficiênciaAssuntos
Glicogênio/metabolismo , Medula Espinal/metabolismo , Monofosfato de Adenosina/farmacologia , Animais , Galinhas , Frutose-Bifosfato Aldolase/análise , Glucose-6-Fosfatase/análise , Glucose-6-Fosfato Isomerase/análise , Glucosidases/análise , Glucosiltransferases/análise , Glicogênio Sintase/análise , Fígado/enzimologia , Músculos/enzimologia , Fosfofrutoquinase-1/análise , Fosfoglucomutase/análise , Fosforilases/análise , Piruvato Quinase/análiseRESUMO
When normal human cells, capable of repairing ultraviolet-induced lesions in their DNA, are incubated in the thymidine analog 5-bromodeoxyuridine after ultraviolet irradiation, the analog is incorporated into the repaired regions. When such repaired cells are subsequently irradiated with 313-nanometer radiation and placed in alkali, breaks appear in the DNA at sites of incorporation of 5bromodeoxyuridine, inducing a dramatic downward shift in the sedimentation constant of the DNA. Cells from patients with the disease xeroderma pigmentosum, which causes sensitivity to ultraviolet, are incapable or only minimally capable of repair; such cells incorporate little 5-bromodeoxyuridine into their DNA under these conditions and, upon 313-nanometer irradiation and sedimentation in alkali, exhibit only minor shifts in DNA sedimentation constants. When fibroblasts developed from biopsies of normal skin and of skin from patients with xeroderma pigmentosum, as well as cells cultured from midtrimester amniotic fluid, were assayed in this fashion unequivocal differences between normal and xeroderma pigmentosum cells were shown. Xeroderma pigmentosum heterozygotes are clearly distinguishable from homozygous mutants, and results are available 12 hours after irradiation.