RESUMO
Von Hippel-Lindau (VHL) disease is an autosomal dominant neoplasia syndrome that result from a germline mutation in the VHL gene. Germline mutation in the VHL gene lead to the development of hemangioblastomas of the central nervous system and retina, cysts and clear cell carcinoma of the kidney, cyst adenomas of other organs, and pheochromocytoma. VHL is a tumor suppressor gene on the short arm of chromosome 3. VHL disease has been classified into two main clinical subtypes depending on the presence (type 2) or absence (type 1) of pheochromocytoma. Type 2 has been subdivided into three categories depending on the presence (type 2B) or absence (type 2A) of renal cell carcinoma, with type 2C being a rare subtype in which pheochromocytoma is the sole manifestation of VHL disease. Recently we experienced a family with VHL type 1 who carry C to T (Q73X) transition in codon 217 nonsense germline mutation in exon 1 of VHL gene. The authors report this case with literature review.
Assuntos
Humanos , Adenoma , Braço , Carcinoma de Células Renais , Sistema Nervoso Central , Cromossomos Humanos Par 3 , Códon , Éxons , Genes Supressores de Tumor , Mutação em Linhagem Germinativa , Hemangioblastoma , Rim , Feocromocitoma , Retina , Doença de von Hippel-LindauRESUMO
Anomalous origin of the left coronary artery from pulmonary artery was first described in a child by Brooks. This ALCAPA syndrome is a rare congenital anomaly occuring in approximately 0.25~0.50% of children having congenital heart disease. Although approximately 80 to 90% of patients develop congestive heart failure and die in infancy, some pateints may present this syndrome in adolescents or adults. This anomaly was detected during elective coronary angiogram in a 63 year-old female patient with typical angina. Down-sloping ST depression was demonstrated on exercise stress ECG. Coronary angiogram and pulmonary angiogram revealed an anomalous origin of left coronary artery from pulmonary artery.
Assuntos
Adolescente , Adulto , Criança , Feminino , Humanos , Pessoa de Meia-Idade , Síndrome de Bland-White-Garland , Anormalidades Congênitas , Angiografia Coronária , Doença das Coronárias , Vasos Coronários , Depressão , Eletrocardiografia , Cardiopatias Congênitas , Insuficiência Cardíaca , Artéria PulmonarRESUMO
OBJECTIVE: The purpose of this study was to investigate the effect of dietary soluble fibers added to nasogastric tube-fed formulas and to compare the difference of the degree of diarrhea according to the amount of dietary soluble fibers in stroke or traumatic brain injury patients for comprehensive rehabilitative management. METHOD: Fifty-two stroke or traumatic brain injury patients fed by nasogastric tube due to dysphagia were included. They received fiber-free formulas for the first 30 days and then they were randomly assigned to three groups, including the control (fiber-free) group, moderate fiber (3.5 gm fiber/L) group and high fiber (7 gm fiber/L) group. Each group received their respective formulas for the next 30 days. We compared diarrhea score and frequency. RESULTS: In the control group, the degree of diarrhea was not changed with time. In the moderate and high fiber groups, daily diarrhea score and monthly diarrhea frequency were low compared to the control group (p<0.05). Also, the incidence of pseudomembraneous colitis was low in fiber groups. CONCLUSION: We concluded that adding dietary soluble fibers to nasogastric tube-fed formulas may be helpful to reduce the diarrhea and the development of pseudomembraneous colitis. The proper fiber amount will be determined through the following more case studies.