Κυριακή 3 Απριλίου 2016

KCNQ1 mutations associated with Jervell and Lange–Nielsen syndrome and autosomal recessive Romano–Ward syndrome in India—expanding the spectrum of long QT syndrome type 1

Long QT syndrome type 1 (LQT1) is the most common type of all Long QT syndromes (LQTS) and occurs due to mutations in KCNQ1. Biallelic mutations with deafness is called Jervell and Lange–Nielsen syndrome (JLNS) and without deafness is autosomal recessive Romano–Ward syndrome (AR RWS). In this prospective study, we report biallelic mutations in KCNQ1 in Indian patients with LQT1 syndrome. Forty patients with a clinical diagnosis of LQT1 syndrome were referred for molecular testing. Of these, 18 were excluded from the analysis as they did not fulfill the inclusion criteria of broad T wave ECG pattern of the study. Direct sequencing of KCNQ1 was performed in 22 unrelated probands, parents and at-risk family members. Mutations were identified in 17 patients, of which seven had heterozygous mutations and were excluded in this analysis. Biallelic mutations were identified in 10 patients. Five of 10 patients did not have deafness and were categorized as AR RWS, the rest being JLNS. Eight mutations identified in this study have not been reported in the literature and predicted to be pathogenic by in silico analysis. We hypothesize that the homozygous biallelic mutations identified in 67% of families was due to endogamous marriages in the absence of consanguinity. This study presents biallelic gene mutations in KCNQ1 in Asian Indian patients with AR JLNS and RWS. It adds to the scant worldwide literature of mutation studies in AR RWS. © 2016 Wiley Periodicals, Inc.



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Complex Camptosynpolydactyly and Mesoaxial synostotic syndactyly with phalangeal reduction are allelic disorders

Complex Camptosynpolydactyly is an autosomal recessive disorder characterized by complex hand deformities described earlier by us in a consanguineous family. We report on identification of mutations in BHLHA9 gene in this condition. Our results indicate that Complex Camptosynpolydactyly and Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) are likely to be allelic disorders. © 2016 Wiley Periodicals, Inc.



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Effect of lifestyle modifications on oxidative stress in elderly essential hypertensive patients

2016-04-03T21-16-35Z
Source: International Journal of Medical Science and Public Health
Anubhav Bhatnagar, Usha Dhar, Yogesh Tripathi.
Background: Cardiovascular disease (CVD) is one of the leading causes of morbidity and mortality in elderly people, while essential hypertension is a major risk factor for CVD. However, extensive experimental data support a role for increased reactive oxygen species levels and altered redox signaling in the pathogenesis of hypertension. Objective: This study evaluates the effects of lifestyle modifications on oxidative stress and blood pressure in elderly hypertensive patients. Materials and Methods: 83 hypertensive patients (49 males and 34 females) were recruited from Santosh Medical College, Ghaziabad, India for 3 months lifestyle modifications program which included morning walk, nadi shodan pranayama, dietary restrictions, and increase uptake of water. Result: Post lifestyle modifications technique values revealed significant reduction of systolic blood pressure (p

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Effects of breast cancer related lymphedema on hand muscle strength, hand functions and sensory loss of hand

2016-04-03T19-51-08Z
Source: Cukurova Medical Journal
Gül Mete Civelek.
Objective: In this study, we aimed to investigate clinical features of patients with breast cancer related lymphedema (BCRL) and effects of BCRL on hand muscle strength and function. Materials and Methods: Patients applying to oncologic rehabilitation polyclinic with right hand dominancy were included in the study. Clinical and demographic data of all patients were noted, physical examinations were performed. The presence of shoulder pain was questioned. To determine the hand grip strength Jamar hand dynamometer (Baseline hydraulic hand dynamometer, Irvington, NY, USA) and to evaluate the tip pinch strength pinchmeter (Baseline hydraulic pinch gauge, Irvington, NY, USA) were used. Sensory loss was assessed with Semmes-Weinstein monofilament test, hand volume measurement was made with hand volumeter. Results: 32 female patients with mean age 54.5 ± 11.4 (mean ± SD) were included in the study. Median time after breast cancer operations was 18.5 (10-45.5) [median (range 25% -75%)] months. Axillary dissection was performed in all patients. 62.5% of patients received radiotherapy in post-operative period, 96.9% received chemotherapy. 78.1% of patients reported that they had shoulder pain on the affected side. In the right side affected group and the left side affected group, there were no significant differences in grip strengths, hand functions, sensory loss and volumes between right and left hands (p= 0.302, p= 0.574, p= 0.481, p= 0.326, p= 0.203, p= 0.148, p= 0.330, p= 0.123). The tip pinch strength of the right hand was higher than the left side in the left side affected group (p= 0.012). Conclusion: In patients with BCRL, having axillary dissection, receiving chemotherapy and radiotherapy in post-operative period, obesity and shoulder pain are common. Evaluation of patients with BCRL should be made in details, should be versatile and should include questioning shoulder pain and hand evaluation.


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Antibiotic Resistance of Streptococcus pneumoniae and Haemophilus influenzae Isolated from Respiratory Tract Specimens

2016-04-03T19-51-08Z
Source: Cukurova Medical Journal
Hikmet Eda Alışkan, Şule Çolakoğlu, Jülide Sedef Göçmen.
Streptococcus pneumoniae and Haemophilus influenzae are two of the major pathogens in respiratory infections, treatment is usually started empirically. However, in recent years these two bacterial species are becoming increasingly resistant to a variety of antibiotics. The aim of this study was to detect in vitro resistance rates of S. pneumoniae and H. influenzae strains isolated from different lower respiratory clinical samples to the antibotics which are used for therapy of infections due to these pathogens and to evaluated in three years. Between the period of January 2012 to January 2015, 77 S.pneumoniae and 117 H.influenzae (120 sputum, 20 tracheal aspirate, 44 bronchoalveolar lavage isolate) strains, isolated from patients who were admitted to Baskent University Research and Practice Center of Adana, were included to the study. The antibiotic susceptibility tests were performed by disc diffusion method according to Clinical and Laboratory Standarts Institute (CLSI) guidelines. S.pneumoniae isolates which gave an inhibition zone diameter of >20 mm for oxacillin were considered susceptible for penicilin. For the isolates which had an oxacillin zone diameter of 2 mg/l) and 31.1 % were intermediately resistant to parenteral penicillin. Resistance rates to antibiotics were as follows: erythromycin 40 %, trimethoprim/sulphametoxazole (TMP/SMX) 54.5 % and ofloxacin 6.4 %. β-lactamases were detected in %15.6 of the H.influenzae isolates by nitrocefin positivity. There were 6.4 % H.influenzae strains that were resistant to ampicillin but nitrocefin negative and were identified as β-lactamase negative ampicillin resistant (BLNAR) strains. Resistance rates for other antibiotics were as follows: ampicillin 28.6 %, cefaclor 36.5 % , cefuroxime 30.1 %, clarithromycin 9.6 %, cloramphenicol 7 % and TMP-SMX 43.9 %.


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Primary rectal mucosa-associated lymphoid tissue lymphoma in a patient with previously identified primary biliary cirrhosis and secondary Sjögren’s syndrome

Abstract

An 83-year-old female began treatment with prednisolone and ursodeoxycholic acid at 62 years of age, following a diagnosis of primary biliary cirrhosis (PBC) and secondary Sjögren's syndrome (SjS). With persisting bloody stools, the patient underwent colonoscopy at 83 years of age. Histopathological evaluation revealed mucosa-associated lymphoid tissue (MALT) lymphoma. The elevated rectal lesion resolved with rituximab treatment. We report this case because although patients with SjS are at increased risk of malignant lymphoma, primary rectal MALT lymphoma is very uncommon in association with PBC and secondary SjS.



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Correlation of serum Adenosine deaminase activity (ADA) with fasting blood sugar levels in Type II Saudi Diabetic Patients.

2016-04-03T14-23-40Z
Source: Journal of Molecular Pathophysiology
Mohamed Sakran, Mohamed Al-Duais, Kamal Shalaby, Abeer Kamis.
Aim: This study aims to correlate the association of serum Adenosine deaminase activity (ADA) with fasting blood sugar (FBS) levels. Patients and Methods: Serum FBS levels and serum ADA activity were measured in 71 Type 2 diabetes mellitus (DM) patients and 24 controls. Results: Serum ADA activity and FBS levels were elevated in type 2 DM group in comparison to control group significantly (p


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Barriers to Implementing Person-Centered Recovery Planning in Public Mental Health Organizations in Texas: Results from Nine Focus Groups

Abstract

Despite being an established practice in the disabilities service systems, person-centered planning is a relatively new practice in the behavioral health system. As a result, little is known about the barriers that mental health organizations face in implementing person-centered recovery planning (PCRP). To fill this gap, results are presented from a qualitative analysis of nine focus groups at three public mental health organizations in Texas that have been implementing PCRP for at least 2 years. Findings suggest that organizations experienced 12 distinct barriers to PCRP implementation which were categorized into the Consolidated Framework for Implementation Research domains of intervention characteristics, the outer setting, the inner setting, characteristics of individuals, and the implementation process. Half of these 12 barriers fell within the inner setting domain, suggesting that implementation efforts should be flexible and adaptable to organizational culture and context. One-quarter of the barriers fell into the domain of characteristics of individuals involved in the intervention, which further suggests implementation efforts should assess the impact that both staff and consumers have on implementation success.



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Social Well-Being Among Colombian and Peruvian Immigrants in Northern Chile

Abstract

In recent years, northern Chile has received a large number of immigrants attracted mainly by mining and related services. The last population census revealed that 70.5 % of foreigners in Chile came from South America, and were mainly Peruvians (30.5 %), Argentines (16.8 %), and Colombians (8.1 %). The aim of this cross-sectional study is to describe the social well-being levels reported by Colombian and Peruvian immigrants in northern Chile, as well as their connection to socio-demographic and relational factors. The Spanish version of the Scale of Social Well-being (Keyes in Soc Psychol Q 61:121–140, 1998) was administered to 431 men and women over 18 years old, with a minimum residence of 6 months in the city of Antofagasta. The highest-rated aspect was Social Contribution, and the lowest-rated aspect was Social Acceptance. The relational variables that show statistically significant differences in both populations relate to who the subject lives with, the degree of contact that the subject has with people from Chile, and the subject's relationship status. There are no differences that indicate a higher level of social well-being in one population more than the other; however, it appears that the Peruvian population has a greater perception of Social Coherence, while Colombians show a greater perception of Social Contribution.



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Associations Between Discrimination and Cardiovascular Health Among Asian Indians in the United States

Abstract

Asian Indians (AI) have a high risk of atherosclerotic cardiovascular disease. The study investigated associations between discrimination and (1) cardiovascular risk and (2) self-rated health among AI. Higher discrimination scores were hypothesized to relate to a higher cardiovascular risk score (CRS) and poorer self-rated health. Asian Indians (n = 757) recruited between 2010 and 2013 answered discrimination and self-reported health questions. The CRS (0-8 points) included body-mass index, systolic blood pressure, total cholesterol, and fasting blood glucose levels of AI. Multiple linear regression analyses were conducted to evaluate relationships between discrimination and the CRS and discrimination and self-rated health, adjusting for psychosocial and clinical factors. There were no significant relationships between discrimination and the CRS (p ≥ .05). Discrimination was related to poorer self-reported health, B = −.41 (SE = .17), p = .02. Findings suggest perhaps there are important levels at which discrimination may harm health.



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Management of severe acute malnutrition for children; principal consideration in outpatient therapeutic program in context of Ethiopia -Review

2016-04-03T10-46-57Z
Source: International Journal of Health and Rehabilitation Sciences (IJHRS)
Mulugeta Yohannis Kabalo.
Background: roughly13 (2%) million children in developing countries suffer from severe acute malnutrition (SAM). New protocol brought SAM management from facility based approach to community based, principally by Outpatient Therapeutic Program (OTP). However, little known about this new management approach. Therefore, this review intended to disclose SAM management and associated factors in children within southern Ethiopia. Methods: a review of published literatures and protocols conducted in SAM management critically. The literatures were from journals indexed in PubMed, Google Scholars, African online journals and websites of organizations like WHO and UNICEF. Results: the review indicates, currently SAM managed generally in newly endorsed community based management of acute malnutrition (CMAM) in Ethiopia. There are four broad components of CMAM applied. Explicitly, community outreach, OTP, inpatient management at stabilization center (SC) and program addressing moderate acute malnutrition (MAM). All components are operational in health posts based except SC, which held in health centers. Health posts do have its catchment areas and health centers supervise the activities of health posts particularly regarding SAM management in children. Conclusion: the management of SAM in children was operational based on CMAM in Ethiopia. Most activities were set in health posts but health centers supervise the activities of health posts. Especially it should be clear that, OTP is operational only in health posts and SC in health center in this country particularly in southern region.


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Analysis of segmental mobility following a novel posterior apical short-segment correction for adolescent idiopathic scoliosis

BACKGROUND CONTEXT: The consequence of a spinal fusion is an abnormal load on adjacent levels with increased risk of future adjacent segment degeneration.

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A Zebrafish Model of 5q-Syndrome Using CRISPR/Cas9 Targeting RPS14 Reveals a p53-Independent and p53-Dependent Mechanism of Erythroid Failure

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Publication date: Available online 2 April 2016
Source:Journal of Genetics and Genomics
Author(s): Jason Ear, Jessica Hsueh, Melinda Nguyen, QingHua Zhang, Victoria Sung, Rajesh Chopra, Kathleen M. Sakamoto, Shuo Lin
5q-syndrome is a distinct form of myelodysplastic syndrome (MDS) where a deletion on chromosome 5 is the underlying cause. MDS is characterized by bone marrow failures, including macrocytic anemia. Genetic mapping and studies using various models support the notion that ribosomal protein S14 (RPS14) is the candidate gene for the erythroid failure. Targeted disruption of RPS14 causes an increase in p53 activity and p53-mediated apoptosis, similar to what is observed with other ribosomal proteins. However, due to the higher risk for cancer development in patients with ribosome deficiency, targeting the p53 pathway is not a viable treatment option. To better understand the pathology of RPS14 deficiency in 5q-deletion, we generated a zebrafish model harboring a mutation in the RPS14 gene. This model mirrors the anemic phenotype seen in 5q-syndrome. Moreover, the anemia is due to a late-stage erythropoietic defect, where the erythropoietic defect is initially p53-independent and then becomes p53-dependent. Finally, we demonstrate the versatility of this model to testvarious pharmacological agents, such as RAP-011, L-leucine, and dexamethasone in order to identify molecules that can reverse the anemic phenotype.



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