Diagnosis in Prader-Willi syndrome.

Thirty one patients with the putative diagnosis of Prader-Willi syndrome were reassessed clinically and by DNA analysis. Eleven patients were judged not to have Prader-Willi syndrome and 20 to have the condition. This was confirmed by DNA analysis in all but one case. The diagnosis of Prader-Willi syndrome, especially in early infancy, should be made with caution unless confirmed by molecular genetic studies.     

Vietnamese refugees in Victoria, B.C.: An overview of immigrant and refugee health care in a medium-sized Canadian urban centre

This paper examines the manner in which Vietnamese refugees acces the healthcare system in Victoria, British Columbia. A major theme of this study was the identification of barriers to health care access and provision as perceived by refugees and health care providers, as well as areas of overlap between the two sets of perceptions. The study was based on interview protocols developed with key informants followed by structured samples of 20 Vietnamese and 20 health care workers. The major issue identified by both groups was problematic interpretation of patient symptoms and health care provider recommendations. Lack of health care worker understanding of traditional remedies for common ailments was also identified as a barrier to health care access and utilization. The special problems of unemployment, depression, surviving torture and getting assistance are all made more difficult for refugees living in a smaller urban centre which lacks sufficiently large ethnic populations to assist in service provision. A number of suggestions are made which might ameliorate the difficulties of refugees living in smaller communities. These include municipally based client advocates and special translation training for existing hospital staff.     

Nonimmune hydrops caused by massive fetomaternal hemorrhage and treated by intravascular transfusion.

Fetal hydrops at 26 weeks' gestation was diagnosed following a massive fetomaternal hemorrhage. Fetal intravascular transfusion was performed, and the hydrops completely resolved within 72 hours. The fetus required one more transfusion at 27 weeks' gestation. A subsequent percutaneous umbilical blood sampling at 30 weeks' gestation demonstrated a normal fetal hematocrit. A vaginal delivery at term resulted in a normal newborn. Massive fetomaternal hemorrhage is a well-known cause of nonimmune hydrops and may occur spontaneously in an otherwise normal pregnancy. Confirmation by percutaneous umbilical blood sampling and treatment by intravascular transfusion is recommended when massive fetomaternal hemorrhage causes hydrops in preterm gestations.     

重睑术

重睑术是美国最流行的美容外科手术，每年的手术人数达500000-600000之多。洛杉矶Jules Stein眼科研究所的Baylis医师说，1年做10例的医师可以与1年做200例其他医师一样熟练。Baylis医师估计，人群的25％企望做重险术。     

Familial dyslipidemic hypertension. Evidence from 58 Utah families for a syndrome present in approximately 12% of patients with essential hypertension

Population-based sibships with essential hypertension diagnosed before the age of 60 years are being screened in Utah to find two or more hypertensive siblings with the same biochemical abnormality as a clue to an inherited cause for their specific type of hypertension. Among 131 hypertensive subjects in 58 sibships, concordant abnormalities in fasting serum lipid concentrations were observed in two or more siblings in 48% of the sibships. After adjusting for effects of antihypertensive medications, abnormal values reported in only 10% of the Lipid Research Clinics data were observed in 30% of patients for serum triglycerides, 19% for serum low-density lipoprotein cholesterol, and 39% for high-density lipoprotein cholesterol. More than one lipid level was abnormal in almost all concordant sibships, suggesting an association between hypertension and a syndrome of mixed lipid abnormalities, probably familial combined hyperlipidemia (renamed "familial combined dyslipidemia" because of common low high-density lipoprotein cholesterol levels). We conclude that familial dyslipidemic hypertension may be a specific syndrome with lipid abnormalities more severe than blood pressure elevations.     

Linkage of the MHC to familial multiple sclerosis suggests genetic heterogeneity. The Multiple Sclerosis Genetics Group

Multiple sclerosis (MS) is a demyelinating autoimmune disease of the central nervous system. While its etiology is not well understood, genetic factors are clearly involved. Until recently, most genetic studies in MS have been association studies using the case-control design testing specific candidate genes and studying only sporadic cases. The only consistently replicated finding has been an association with the HLA-DR2 allele within the major histocompatibility complex (MHC) on chromosome 6. Using the genetic linkage design, however, evidence for and against linkage of the MHC to MS has been found, fostering suggestions that sporadic and familial MS have different etiologies. Most recently, two of four genomic screens demonstrated linkage to the MHC, although specific allelic associations were not tested. Here, a dataset of 98 multiplex families was studied to test for an association to the HLA-DR2 allele in familial MS and to determine if genetic linkage to the MHC was due solely to such an association. Three highly polymorphic markers (HLA-DR, D6S273 and TNFbeta) in the MHC demonstrated strong genetic linkage (parametric lod scores of 4.60, 2.20 and 1.24, respectively) and a specific association with the HLA-DR2 allele was confirmed (TDT; P < 0.001). Stratifying the results by HLA-DR2 status showed that the linkage results were limited to families segregating HLA-DR2 alleles. These results demonstrate that genetic linkage to the MHC can be explained by the HLA-DR2 allelic association. They also indicate that sporadic and familial MS share a common genetic susceptibility. In addition, preliminary calculations suggest that the MHC explains between 17 and 62% of the genetic etiology of MS. This heterogeneity is also supported by the minority of families showing no linkage or association with loci within the MHC.