Evidence for linkage of nonsyndromic cleft lip with or without cleft palate to a region on chromosome 2

Results from a genome-wide screen of 10 multiplex families ascertained through probands with nonsyndromic cleft lip with or without cleft palate (CL/P) in Mexico, Argentina, and the United States yielded suggestive evidence of linkage to chromosomes 2, 6, 17 and 18. Fine mapping excluded all regions except chromosome 2. Subsequent analysis was performed on the original 10 families plus an additional 16 families using 31 markers on chromosome 2. This analysis showed intriguing evidence of linkage to 2q (Zlr=2.26, empirical P-value=0.028 in a chromosome-wide analysis). Transmission disequilibrium tests also revealed evidence of linkage and disequilibrium for two markers in this region (D2S168 and D2S1400 with P-values=0.022 and 0.006, respectively). A subset of these 26 families provided additional evidence for a susceptibility gene for CL/P on 2q, suggesting that further studies of genes in this region are warranted.     

The GAP-related domain of tuberin, the product of the TSC2 gene, is a target for missense mutations in tuberous sclerosis

Tuberous sclerosis is an autosomal dominant trait in which the dysregulation of cellular proliferation and differentiation results in the development of hamartomatous growths in many organs. The TSC2 gene is one of two genes determining tuberous sclerosis. Inactivating germline mutations of TSC2 in patients with tuberous sclerosis and somatic loss of heterozygosity at the TSC2 locus in the associated hamartomas indicate that TSC2 functions as a tumour suppressor gene and that loss of function is critical to expression of the tuberous sclerosis phenotype. The TSC2 product, tuberin, has a region of homology with the GTPase activating protein rap1GAP and stimulates the GTPase activity of rap1a and rab5a in vitro. Here we show that the region of homology between tuberin and human rap1GAP and the murine GAP mSpa1 is more extensive than previously reported and spans approximately 160 amino acid residues encoded within exons 34-38 of the TSC2 gene. Single strand conformation polymorphism analysis of these exons in 173 unrelated patients with tuberous sclerosis and direct sequencing of variant conformers together with study of additional family members enabled characterisation of disease associated mutations in 14 cases. Missense mutations, which occurred in exons 36, 37 and 38 were identified in eight cases, four of whom shared the same recurrent change P1675L. Each of the five different missense mutations identified was shown to occur de novo in at least one sporadic case of tuberous sclerosis. The high proportion of missense mutations detected in the region of the TSC2 gene encoding the GAP-related domain supports its key role in the regulation of cellular growth.      

Osteometric Dimensions of the Laminas of the Spine

The present study was undertaken to evaluate the dimensions of the laminas from C2 to L5 by using adult human spine specimens for the objective of providing a set of quantitative data for the laminas from C2 to L5 vertebrae.There exists enormous amount of Anatomic data based on facet and pedicle parameters by different research workers, but it seems that the detailed studies based on measurements of laminar parameters from cervical to lumbar spines are almost nil.Forty spines (920 vertebrae) were considered for the present study. Anatomic evaluation of the laminas'included the laminar height, width, thickness, width angle & slope angle.The greatest laminar height was observed at T11 for males & females ( 22.8 ± 2.1 mm, 23.0 + 1.8mm) respectively. There was a marked change in pattern at L5 where there was a decrease in laminar height from that of preceding lumbar levels.The greatest laminar width was at-L5 for males & females (12.1 ± 2.4mm 11.5 ± 2.1 mm ) respectively. The laminar thickness was maximum at T3 for males and females (5:2 ± 0.7mm & 5.1 ± 0.2mm ) respectively. The maximum width angle was at T9 for males (99.2 ± 9.7mm) & at L4for females (100.6 ± 12.3mm). The-slope angle was maximum at L5 for males and females (113.5 ± 4.8mm & 118.0 ± 1.4mm) respectively.Thus, for the proper, understanding of the weight transmission through the spine and it related hypothesis the Anatomic parameters of the laminas provided by the present study are very important and also they provide an adequate database necessary for the surgical placement of sublaminar instruments in spine related surgeries.     

Effect of shared care on blood pressure in patients with chronic kidney disease: a cluster randomised controlled trial

Background

Chronic kidney disease (CKD) is highly prevalent in patients with diabetes or hypertension in primary care. A shared care model could improve quality of care in these patients

Aim

To assess the effect of a shared care model in managing patients with CKD who also have diabetes or hypertension.

Design and setting

A cluster randomised controlled trial in nine general practices in The Netherlands.

Method

Five practices were allocated to the shared care model and four practices to usual care for 1 year. Primary outcome was the achievement of blood pressure targets (130/80 mmHg) and lowering of blood pressure in patients with diabetes mellitus or hypertension and an estimated glomerular filtration rate (eGFR)<60ml/min/1.73m².

Results

Data of 90 intervention and 74 control patients could be analysed. Blood pressure in the intervention group decreased with 8.1 (95% CI = 4.8 to 11.3)/1.1 (95% CI = −1.0 to 3.2) compared to −0.2 (95% CI = −3.8 to 3.3)/−0.5 (95% CI = −2.9 to 1.8) in the control group. Use of lipid-lowering drugs, angiotensin-system inhibitors and vitamin D was higher in the intervention group than in the control group (73% versus 51%, 81% versus 64%, and 15% versus 1%, respectively, [P = 0.004, P = 0.01, and P = 0.002]).

Conclusion

A shared care model between GP, nurse practitioner and nephrologist is beneficial in reducing systolic blood pressure in patients with CKD in primary care.     

Decompensated cirrhosis-related admissions in a large urban hospital in Uganda: prevalence,clinical and laboratory features and implications for planning patient management

Background

Cirrhosis-related complications are a major cause of morbidity and mortality in areas where its risk factors are endemic.

Objective

We determined the prevalence of decompensated cirrhosis among patients on the gastroenterology service of Mulago Hospital and described the clinical and laboratory features of these patients.

Methods

All patients admitted to the unit were assessed and their diagnosis documented. Patients with cirrhosis had clinical features of decompensation recorded. History of alcohol consumption was taken and testing for hepatitis B surface antigen (HBsAg) and hepatitis C antibody (anti-HCV) performed.

Results

Between September 2010 and January 2011, we enrolled 482 patients. The majority (53.7%) were male, overall median age 38 years. Decompensated cirrhosis was diagnosed in 85 (17.6%) patients. Of the 85 patients, 47 (55.3%) gave a history of alcohol intake, HBsAg was positive in 23 (27.1%) and anti-HCV in 3 (3.5%). Decompensation was defined by ascites among 81 (95.3%) patients, variceal bleeding in 31 (36.5%), encephalopathy in 20 (23.5%).

Conclusion

Cirrhosis is common in Mulago hospital presenting mainly with ascites and variceal bleeding. Aside from controlling causes of liver diseases, especially alcohol and hepatitis B virus infection, in the interim it is necessary to manage complications in patients who already have cirrhosis.     

应用5-ALA后银屑病皮损内PpⅨ荧光不均一性的免疫组化研究

研究发现银屑病皮损能够高度聚集原卟啉Ⅸ（PpⅨ，一种由5-ALA产生的内源性光源物质），但进行荧光诊断时却发现皮损内PpⅨ的分布存在差异，造成这种差异的原因目前尚不清楚。     

Acoustic measures of vocal stability during different speech tasks in young women using oral contraceptives: a retrospective study

Objectives To compare objective voice measures of vocal stability during different speech tasks in women taking oral contraceptives to those in women not taking oral contraceptives. Methods Voice recordings obtained from 28 women, aged 20-30 years old, were used for the study. Eighteen of the women were taking some form of oral contraception at the time of the recording (OC women); ten women were not taking any oral contraceptive medication (NOC women). Measures related to pitch, vocal stability, and loudness were obtained from sustained vowel and paragraph reading tasks. Results The OC women demonstrated significantly higher pitch levels but lower values related to measures of vocal stability. Conclusions The use of oral contraceptives appears to exert a positive influence upon vocal fold function. Women taking oral contraceptives demonstrate higher pitch levels and greater stability during phonation than do women not taking oral contraceptives. This improvement in vocal function is contributed to the more stable hormonal environment that occurs with the use of oral contraceptives.     

Osteomyelitis: detection with US

To evaluate the role of ultrasound (US) in the detection of osteomyelitis, the authors prospectively studied 48 patients clinically suspected of having osteomyelitis. A sonographic diagnosis was made if fluid was seen directly in contact with bone, without intervening soft tissues. Twelve of the 48 patients were subsequently found to have osteomyelitis. In 10 of them, US demonstrated abnormal fluid adjacent to the bone. This fluid was thought to represent an inflammatory exudate dissecting in a subperiosteal and/or extraperiosteal location. Eight of the 48 patients had soft-tissue fluid collections. The rest of the patients either had no abnormalities or had cellulitis. The authors conclude that US can be useful in the detection of osteomyelitis.