Assuntos
Sistemas de Informação em Laboratório Clínico/estatística & dados numéricos , Internet/estatística & dados numéricos , Atitude Frente aos Computadores , Redes de Comunicação de Computadores/estatística & dados numéricos , Escolaridade , Administradores Hospitalares/estatística & dados numéricos , Diretores Médicos/estatística & dados numéricos , Inquéritos e Questionários , Estados UnidosRESUMO
While a recent survey shows that more laboratorians approve of CLIA now than in the past, a considerable enclave remain opposed to this law. Among the key issues that continue to dishearten and incite the clinical lab: the proposed exemption of POLs and diminished personnel standards.
Assuntos
Laboratórios/normas , Garantia da Qualidade dos Cuidados de Saúde/legislação & jurisprudência , Atitude do Pessoal de Saúde , Certificação , Coleta de Dados , Eficiência Organizacional , Fiscalização e Controle de Instalações/legislação & jurisprudência , Fidelidade a Diretrizes , Laboratórios/legislação & jurisprudência , Pessoal de Laboratório Médico/psicologia , Pessoal de Laboratório Médico/estatística & dados numéricos , Consultórios Médicos , Competência Profissional , Estados UnidosAssuntos
Laboratórios/normas , Garantia da Qualidade dos Cuidados de Saúde/estatística & dados numéricos , Acreditação , Atitude do Pessoal de Saúde , Competência Clínica , Coleta de Dados , Documentação , Fiscalização e Controle de Instalações , Humanos , Laboratórios/estatística & dados numéricos , Garantia da Qualidade dos Cuidados de Saúde/métodos , Programas de Autoavaliação , Estados UnidosRESUMO
Chondrodysplasia punctata (CP) is a heterogeneous group of bone dysplasias that are characterized by abnormal calcium deposition in areas of enchondral bone formation. The existence of an X-linked recessive form of chondrodysplasia punctata (CDPX) has been recognized in patients who are nullisomic for the Xp22.3 region, presenting with complex phenotypes. The gene of CDPX has been identified recently, and five point mutations of the gene, named ARSE, have been described. Here, we report on the clinical and molecular characterization of a patient with CDPX. The patient presented at birth with cranial and facial anomalies and short stature; an x-ray skeletal survey showed punctate calcifications and striking hand and foot abnormalities. Single strand conformation polymorphism (SSCP) and sequence analysis of the patient's DNA allowed the identification of a new mutation of the ARSE gene; this mutation causes an amino acid substitution from cysteine to tyrosine at position 492 of the ARSE predicted protein product. The clinical description of patients with CDPX due to known mutation of the ARSE is of interest for the precise delineation of the clinical spectrum of the disease.
Assuntos
Arilsulfatases/genética , Condrodisplasia Punctata/genética , Mutação Puntual/genética , Condrodisplasia Punctata/diagnóstico por imagem , Análise Mutacional de DNA , Ligação Genética , Humanos , Recém-Nascido , Masculino , Polimorfismo Conformacional de Fita Simples , Radiografia , Cromossomo X/genéticaRESUMO
CDG syndrome (CDGS) type I is the most frequent form of a group of metabolic disorders characterised by a defect of the carbohydrate moiety of glycoproteins. A large number of plasma glycoproteins, including clotting factors and inhibitors, are decreased and stroke-like episodes have been described in about half of the reported patients. We studied blood coagulation factors, inhibitors and D-dimer plasma levels in four subjects, aged 12-23 years, with CDGS type I. Factors VIII, XI, antithrombin III activity, antigen plasma levels of antithrombin III, free protein S and protein C were decreased whereas protein C as activity was normal. In addition two patients had reduction of factors II, V, VII, IX, X reflecting the phenotypic heterogeneity associated with CDGS type I. D-dimer plasma concentrations were elevated in all subjects. The hypercoagulable state as consequence of the combined deficiencies of coagulation inhibitors could contribute to the stroke-like phenomena in CDGS type I.
Assuntos
Fatores de Coagulação Sanguínea/fisiologia , Defeitos Congênitos da Glicosilação/sangue , Adolescente , Adulto , Fatores de Coagulação Sanguínea/antagonistas & inibidores , Criança , Feminino , Hemostasia , Humanos , Masculino , Tempo de Tromboplastina Parcial , Tempo de ProtrombinaRESUMO
The carbohydrate-deficient glycoprotein (CDG) syndromes are a group of genetic multisystem disorders with invariable involvement of the nervous system including severe olivopontocerebellar atrophy. We report two sets of sibs in whom the diagnosis of CDG syndrome type 1 was recognized at an older age because of marked olivopontocerebellar atrophy seen on MRI. Previous CT findings were interpreted as showing Dandy-Walker malformation. Three of the patients are also among the oldest reported with this syndrome.
Assuntos
Defeitos Congênitos da Glicosilação/complicações , Atrofias Olivopontocerebelares/complicações , Adulto , Encéfalo/patologia , Criança , Defeitos Congênitos da Glicosilação/diagnóstico , Feminino , Humanos , Itália , Imageamento por Ressonância Magnética , Masculino , Atrofias Olivopontocerebelares/diagnósticoRESUMO
Four patients with carbohydrate deficient glycoprotein (CDG) syndrome type I underwent ophthalmic examination. All of them had retinitis pigmentosa with extinguished scotopic electroretinogram. The importance of CDG syndromes as one of the metabolic causes of retinal dystrophy with 'bony spicule' pigment is stressed.
Assuntos
Carboidratos/deficiência , Glicoproteínas/química , Degeneração Retiniana/etiologia , Adolescente , Adulto , Criança , Potenciais Evocados Visuais , Feminino , Humanos , Masculino , Degeneração Retiniana/genética , Síndrome , Acuidade VisualRESUMO
The molecular defect responsible for a case of mild osteogenesis imperfecta (OI) with repeated femoral fractures was investigated. The proband and his mother, who presented minor OI signs but no bone fractures, were shown to produce normal and abnormal type-I procollagen molecules in their dermal fibroblasts. The molecular defect was localized in about half of the proband's pro alpha 1(I) mRNA molecules by chemical cleavage with piperidine of hydroxylamine-reacted mRNA:cDNA heteroduplexes. The corresponding region was reverse-transcribed and amplified by polymerase chain reaction (PCR). Cloning and sequencing of the amplified products revealed in both subjects a G-to-A transition in the first base of codon 901 of the alpha 1(I) triple helical domain, which led to a serine for glycine substitution. Allele-specific oligonucleotide hybridization to amplified genomic DNA from fibroblasts and leukocytes confirmed the heterozygous nature of both patients and proved the absence of mosaicism. The presence of the mutation was excluded in other healthy family members, who were reported to have bluish selerae. The mild phenotypic outcome of this newly characterized mutation contradicts previous findings on glycine substitutions in the C-terminal region of collagen triple helix, most of which caused lethal OI.
Assuntos
Aberrações Cromossômicas , Colágeno/genética , Genes/genética , Osteogênese Imperfeita/genética , Sequência de Bases , Criança , Códon/genética , Análise Mutacional de DNA , Feminino , Expressão Gênica , Genes Dominantes , Variação Genética , Glicina/genética , Humanos , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Mutação , Linhagem , Reação em Cadeia da Polimerase , Pró-Colágeno/genética , RNA Mensageiro/genética , Serina/genéticaRESUMO
Five cases of Roberts syndrome (RS) in four nuclear families are reported and the wide range of phenotypic variation among them is described. This is in contrast with the remarkable uniformity of the cytogenetic findings. Indirect immunofluorescence with seric antibodies from patients with CREST, revealed that the centromeric structures are normal in RS thus confirming J. German's assumption that the chromatid repulsion is confined to the heterochromatin. The authors quantified the phenomenon of centromeric heterochromatin separation (as occasionally revealed by C-bands in normal subjects) in obligate heterozygotes and possible heterozygotes for RS. The results are indicative of the possibility to screen for heterozygotes. The nosology of RS and related syndromes is discussed in view of the cytogenetic findings and the natural history of the disease.
Assuntos
Anormalidades Múltiplas/genética , Triagem de Portadores Genéticos , Variação Genética/genética , Feminino , Humanos , Cariotipagem , Masculino , Linhagem , Fenótipo , SíndromeRESUMO
Autosomal dominant inheritance of a mild form of osteogenesis imperfecta (osteogenesis imperfecta type I) with different phenotypic expression was found in a family. Phenotypic expression was different for the affected mother and son, in the presence of the same biochemical results. Dermal fibroblast cultures synthesized normal and mutant type I collagen alpha chains. Collagen heterotrimers containing abnormal chains were overmodified along the entire triple helical domain and showed an unusually low denaturation temperature, so far found only in lethal cases. The mild phenotype in the family is probably due to the fact that abnormal type I collagen molecules are more likely to be degraded than utilized in the extracellular matrix.
Assuntos
Temperatura Corporal , Colágeno/genética , Osteogênese Imperfeita/genética , Células Cultivadas , Pré-Escolar , Colágeno/química , Colágeno/metabolismo , Brometo de Cianogênio , Feminino , Fibroblastos/metabolismo , Humanos , Substâncias Macromoleculares , Masculino , Mutação , Osteogênese Imperfeita/metabolismo , Linhagem , Fenótipo , Conformação Proteica , Desnaturação ProteicaRESUMO
Clinical variability and causal heterogeneity of holoprosencephaly is discussed in relation to several newborn infants with cyclopia (cases 4,5,6), cebocephaly (cases 2,3), and premaxillary agenesis (case 1). In subjects with holoprosencephaly, the presence of multiple malformations is an indicator of concomitant chromosome aberrations, as in present case 1 (Down syndrome) and case 3 (trisomy 13). Cases 5 and 6 are two monozygotic twins with the same type of cyclopia and alobar holoprosencephaly recognized by prenatal ultrasonography. The diagnostic importance of ultrasonographic, cytogenetic, and pathological studies is pointed out in view of etiologic evaluation, genetic counseling, and prevention of holoprosencephaly.
Assuntos
Aberrações Cromossômicas , Holoprosencefalia/genética , Anormalidades Múltiplas , Cromossomos Humanos Par 13 , Síndrome de Down/genética , Face/anormalidades , Feminino , Cabeça/anormalidades , Humanos , Recém-Nascido , Masculino , TrissomiaRESUMO
The Authors report a case of a rare and very voluminous teratoma with uncommon location (the right cervico-facial region) and extracranial seat in a female newborn. The teratoma was excised in the 18th day of life. It showed cystic and solid lesions. The tissues were derived from the three germ layers and were prevalently mature; only a bit of them was represented by embryonic mesenchymal tissue. The baby, followed and checked up during all the first year of her life, showed a normal evolution and absence of recurrences.