Barakat syndrome revisited

Barakat syndrome also known as HDR syndrome (Online Mendelian Inheritance in Man [OMIM] 146255), was first described by Barakat et al. in 1977 . It is a rare genetic disorder characterized by the triad of hypoparathyroidism “H,” sensorineural deafness “D,” and renal disease “R.” The defect is caused by deletions in chromosome 10p14 or mutations in the GATA3 gene. Although the syndrome has been phenotypically defined by this triad the literature identifies cases with different components with, or without GATA3 defects making the definition of the syndrome confusing. We analyzed 180 cases and attempted to define the phenotype of the syndrome and suggest guidelines for diagnosis. We suggest that the diagnosis could be confirmed in patients who have all three components, and in those who have two components with a positive family history. GATA3 testing is optional to establish the diagnosis in these patients. The syndrome should be considered in patients with isolated “D” where other causes of “D” have been excluded and those with isolated “R,” especially if there is family history of any of these components. In these instances, confirmatory GATA3 testing is indicated to confirm the diagnosis. In patients with nonsurgical “H,” where “D” and “R” have been conclusively ruled out GATA3 studies are not needed as none of these patients were shown to be GATA3 haploinsufficient. Only 64.4% of patients in our review had “HDR.” Some findings might have not been recognized or may could have appeared later in life, but it is evident that this syndrome is genotypically heterogeneous.     

A soluble form of B cell maturation antigen, a receptor for the tumor necrosis factor family member APRIL, inhibits tumor cell growth

A proliferation-inducing ligand (APRIL) is a ligand of the tumor necrosis factor (TNF) family that stimulates tumor cell growth in vitro and in vivo. Expression of APRIL is highly upregulated in many tumors including colon and prostate carcinomas. Here we identify B cell maturation antigen (BCMA) and transmembrane activator and calcium modulator and cyclophilin ligand (CAML) interactor (TACI), two predicted members of the TNF receptor family, as receptors for APRIL. APRIL binds BCMA with higher affinity than TACI. A soluble form of BCMA, which inhibits the proliferative activity of APRIL in vitro, decreases tumor cell proliferation in nude mice. Growth of HT29 colon carcinoma cells is blocked when mice are treated once per week with the soluble receptor. These results suggest an important role for APRIL in tumorigenesis and point towards a novel anticancer strategy.     

Laypersons' views of material incentives for enhancing colorectal cancer screening

Background

Colorectal cancer (CRC) early detection improves health outcomes; screening programmes invest efforts in initiating invitations to target populations to be tested. Enhanced adherence is essential for reduction of morbidity and mortality. Participation rates in Israel are still relatively low.

Objective

To explore lay views regarding the concept of receiving material incentives in exchange for enhanced adherence to CRC screening.

Research design

Qualitative study. Between November 2009 and February 2010 six focus group discussions were carried out in two urban, middle and low socio‐economic status primary care clinics in a Northern city in Israel. Participants were eligible individuals for CRC screening, aged 50–68 (N = 24). Data analysis followed the principles of grounded theory, supported by qualitative software.

Results

Participants found administering incentives in exchange for CRC screening inappropriate on rational and moral grounds. They valued their relations with the medical team and the health system more than the potential gain expected. Individuals eligible for CRC screening perceived themselves as responsible for their health, admitting difficulties in realizing this responsibility. Incentives were reported unsuitable for solving reported screening difficulties and a potential harm to the doctor–patient relationship.

Conclusions

Focus group participants expressed an unconventional voice towards the use of material incentives. They pointed to the need for focused support of health behaviour change and valued their autonomy. While a proportion of the invitees in the target population see the importance of screening and appreciate the HMO''s initiative to invite them for testing, they also expressed their need for support from the HMO in realizing the recommended health behaviour.     

Comparison of time-intensity-curve- (TIC-) analysis of contrast-enhanced ultrasound (CEUS) and dynamic contrast-enhanced (DCE) MRI for postoperative control of microcirculation in free flaps - first results and critical comments

Postoperative monitoring of transplanted free flaps is an essential tool to reveal possible complications. The aim of this study was to compare the value of time-intensity-curve- (TIC-) analysis based on grey scale data of contrast-enhanced ultrasound (CEUS) and dynamic contrast-enhanced (DCE-) magnetic resonance imaging (MRI). Postoperative imaging was performed in 11 patients following free flap transplantation and TIC analysis was obtained in identical regions of interest (ROI) of CEUS and DCE MRI data. Microcirculation was assessed in superficial (0-1 cm), middle (1-2 cm), and deep (2-3 cm) ROIs in one or two different positions within the flap resulting in a total of 46 ROIs evaluated (in very thin flaps only superficial and middle ROIs were assessed). For both imaging methods, mean signal increase was found to be significantly higher in ROIs of normally perfused flaps (n = 40) compared to ROIs with compromised microcirculation (n = 6). Although TIC analysis allows quantification of microcirculation in different regions of the flap, in this preliminary study no distinct threshold could be defined to differentiate flaps with normal and compromised microcirculation.     

The association between obesity and urinary tract infection

BackgroundFew studies examined the relationship between obesity and urinary tract infection (UTI), showing inconsistent results. This study aims to examine the association between obesity and UTI, and to assess whether this association is independent of diabetes mellitus and 25(OH)D level.MethodsUsing the computerized database of the largest healthcare provider in Israel, we identified a cohort of subjects ≥ 18 years old with available BMI and serum 25(OH)D level measurements between January 2009 and December 2009. The cohort was followed for the first UTI diagnosis from January 2010 through June 2011. Cox proportional hazard model was used to test the relationship between obesity and UTI.ResultsDuring follow-up, 25,145/110,736 (22.7%) females, and 4032/42,703 (9.4%) males had UTI. The crude HR for UTI in those with BMI ≥ 50 compared to BMI < 25 was 2.54 (95% CI, 1.50–4.30) in males and 1.39 (1.14–1.69) in females. After adjusting for age, 25(OH)D level, and history of diabetes mellitus, the HR for UTI in those with BMI ≥ 50 compared to BMI < 25 was 2.38 (1.40–4.03) in males and 1.25 (1.03–1.52) in females. The HR for those in the lowest quartile of serum 25(OH)D compared to the highest quartile was 1.23 (1.13–1.35) in males and 0.98 (0.95–1.02) in females. The HR for subjects with diabetes was 1.23 (1.16–1.32) in males, and 1.25 (1.20–1.28) in females.ConclusionsObesity is independently associated with UTI particularly in males. Low serum 25(OH)D levels are associated with increased risk of UTI in males.     

Genetic trace metal disturbances.

Genetic trace metal disturbances can be at three levels. Trace metals play an important role in the metabolism of genetic macromolecules and the information transfer system. Deficiency or excess of trace metals caused either by dietary or genetic factors will affect the normal functioning of the whole organism. The roles of trace metals in carcinogenesis/mutagenesis and ageing are typical of this category. The second level of genetic trace metal disturbances affect the metabolic pathway of the trace metal itself. Biochemical derangement resulting from genetic defects cause aberrant metabolism of the element and thus disease symptoms. Diseases caused by abnormal metabolism of copper, zinc, iron, and molybdenum are discussed. Trace metal disturbances can also be the result of other genetic diseases. This aspect of genetic trace metal disturbances is least investigated. However, information should be important for improving the existing treatment protocol for the more common inborn errors of metabolism, such as phenylketonuria.     

The relationship between obesity and the increase in serum 25(OH)D levels in response to vitamin D supplementation

Summary

This study examines the relationship between obesity and the increase in serum 25(OH)D levels in response to vitamin D supplementation among adults with baseline serum 25(OH)D levels <50 nmol/L. This study revealed that the increase in serum 25(OH)D in response to vitamin D supplementation was higher in lean subjects as compared to obese subjects.

Introduction

Serum 25(OH)D is lower among obese than non-obese. This study examines the relationship between obesity and the increase in serum 25(OH)D in response to vitamin D supplementation in a large sample of adults with baseline serum 25(OH)D <50 nmol/L, relatively long average treatment duration and large average daily cholecalciferol.

Methods

The computerized database of the Clalit Health Services, which the largest nonprofit health maintenance organization in Israel, was retrospectively searched for all subjects aged ≥20 years who performed serum 25(OH)D test in 2011. Subjects with more than one test at different occasions in 2011 were identified and were included if the result of the first test was <50 nmol/L, and were treated with cholecalciferol between the first and the last test in 2011 (n?=?16,540 subjects).

Results

The mean increase in serum 25(OH)D level after treatment was 28.7 (95 % confidence interval (CI), 28.0–29.4)?nmol/L, 23.6 (23.0–24.2)?nmol/L, and 20.1 (19.6–20.6)?nmol/L in subject with BMI of <25, 25–29.9, and ≥30 kg/m², respectively (P?<?0.001). The results were similar after adjustment for the potential confounders. Similarly, the proportion of subjects who achieved serum 25(OH)D?≥?50 nmol/L after treatment was inversely associated with BMI; 65.1, 58.3, and 49.1 % for BMI of <25, 25–29.9, and?≥?30 kg/m², respectively. Compared to BMI of ≥30 kg/m², the adjusted odds ratio for achieving levels of ≥50 nmol/L were 2.12 (95 % CI, 1.94–2.31) and 1.42 (1.31–1.54) for BMI of <25 kg/m², and BMI of 25–29.9 kg/m², respectively.

Conclusions

BMI is inversely associated with the increase in serum 25(OH)D levels in response to vitamin D supplementation.     

MR-arterioportography: a new technical approach for detection of liver lesions

AIM: To evaluate the benefit and effectiveness of MRarterioportography (MR-AP) to achieve the highest sensitivity for detection and evaluation of hepatocellular carcinoma (HCC). METHODS: Twenty liver cirrhosis patients with suspected HCC were included before transarterial chemoembolization. In all patients double-enhanced Magnetic resonance imaging (MRI) was performed. A bolus of 10 mL Magnevist was injected through a selectively placed catheter in the superior mesenteric artery and MRI of the liver was per...