RESUMO
Anophthalmia/microphthalmia (A/M) is a genetically heterogeneous birth defect for which the etiology is unknown in more than 50% of patients. We used exome sequencing with the ACE Exome(TM) (Personalis, Inc; 18 cases) and UCSF Genomics Core (21 cases) to sequence 28 patients with A/M and four patients with varied developmental eye defects. In the 28 patients with A/M, we identified de novo mutations in three patients (OTX2, p.(Gln91His), RARB, p.Arg387Cys and GDF6, p.Ala249Glu) and inherited mutations in STRA6 in two patients. In patients with developmental eye defects, a female with cataracts and cardiomyopathy had a de novo COL4A1 mutation, p.(Gly773Arg), expanding the phenotype associated with COL4A1 to include cardiomyopathy. A male with a chorioretinal defect, microcephaly, seizures and sensorineural deafness had two PNPT1 mutations, p.(Ala507Ser) and c.401-1G>A, and we describe eye defects associated with this gene for the first time. Exome sequencing was efficient for identifying mutations in pathogenic genes for which there is no clinical testing available and for identifying cases that expand phenotypic spectra, such as the PNPT1 and COL4A1-associated disorders described here.
Assuntos
Anoftalmia/genética , Anormalidades do Olho/genética , Microftalmia/genética , Mutação , Anoftalmia/metabolismo , Colágeno Tipo IV/genética , Análise Mutacional de DNA , Exoma , Exorribonucleases/genética , Feminino , Humanos , Lactente , Masculino , Proteínas de Membrana/genética , Microftalmia/metabolismo , Fatores de Transcrição Otx/genética , Receptores do Ácido Retinoico/genéticaRESUMO
The rhodamine-auramine O stain was compared with the Kinyoun carbolfuchsin acid-fast stain for detection of Cryptosporidium oocysts in samples from patients infected with the human immunodeficiency virus (HIV). A total of 283 fecal specimens from HIV-infected patients were examined for the presence of Cryptosporidium oocysts. Duplicate smears of the fecal concentrates, prepared by the formalin ethyl acetate procedure, were stained by the Kinyoun carbolfuchsin and fluorescent rhodamine-auramine O acid-fast methods. The Kinyoun stain detected 13 positive specimens, while the rhodamine-auramine O stain detected 14 positive specimens. The average time required to survey a stained smear was 2.5 minutes with the fluorescent method, compared with 6.0 minutes with the Kinyoun technique. The rhodamine-auramine O stain is a dependable and efficient method of examining fecal smears for the presence of Cryptosporidium oocysts in a high-risk population.
Assuntos
Infecções Oportunistas Relacionadas com a AIDS/diagnóstico , Criptosporidiose/diagnóstico , Fezes/parasitologia , Contagem de Ovos de Parasitas/métodos , Coloração e Rotulagem/métodos , HumanosRESUMO
A randomized controlled trial was conducted to examine the effects of interdisciplinary team care on acute hospitalized stroke patients. After obtaining baseline information on 42 stroke victims receiving conventional care in a general hospital, 130 stroke patients were stratified and randomly assigned either to Traditional or Team care. Assessments by independent evaluators permitted comparisons between Team and Traditional groups with reference to patient survival, motor performance and functional abilities. Data obtained prospectively from charts and treatment logs allowed the care process across groups to be compared. Results demonstrated that Team and Traditional patients fared similarly in survival. However there was an unexpected difference in survival depending upon sex. For motor performance, male survivors performed better with Team care and female survivors with the Traditional method. In terms of functional abilities, male patients receiving Team care again performed better than their Traditional counterparts, whereas in women there was no difference between the treatment groups.