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https://www.readbyqxmd.com/read/29229831/clinical-genetic-and-structural-basis-of-apparent-mineralocorticoid-excess-due-to-11%C3%AE-hydroxysteroid-dehydrogenase-type-2-deficiency
#1
Mabel Yau, Shozeb Haider, Ahmed Khattab, Chen Ling, Mehr Mathew, Samir Zaidi, Madison Bloch, Monica Patel, Sinead Ewert, Wafa Abdullah, Aysenur Toygar, Vitalii Mudryi, Maryam Al Badi, Mouch Alzubdi, Robert C Wilson, Hanan Said Al Azkawi, Hatice Nur Ozdemir, Wahid Abu-Amer, Jozef Hertecant, Maryam Razzaghy-Azar, John W Funder, Aisha Al Senani, Li Sun, Se-Min Kim, Tony Yuen, Mone Zaidi, Maria I New
Mutations in 11β-hydroxysteroid dehydrogenase type 2 gene (HSD11B2) cause an extraordinarily rare autosomal recessive disorder, apparent mineralocorticoid excess (AME). AME is a form of low renin hypertension that is potentially fatal if untreated. Mutations in the HSD11B2 gene result either in severe AME or a milder phenotype (type 2 AME). To date, ∼40 causative mutations have been identified. As part of the International Consortium for Rare Steroid Disorders, we have diagnosed and followed the largest single worldwide cohort of 36 AME patients...
December 11, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29227919/a-subject-specific-biomechanical-control-model-for-the-prediction-of-cervical-spine-muscle-forces
#2
Maxim Van den Abbeele, Fan Li, Vincent Pomero, Dominique Bonneau, Baptiste Sandoz, Sébastien Laporte, Wafa Skalli
BACKGROUND: The aim of the present study is to propose a subject-specific biomechanical control model for the estimation of active cervical spine muscle forces. METHODS: The proprioception-based regulation model developed by Pomero et al. (2004) for the lumbar spine was adapted to the cervical spine. The model assumption is that the control strategy drives muscular activation to maintain the spinal joint load below the physiological threshold, thus avoiding excessive intervertebral displacements...
December 6, 2017: Clinical Biomechanics
https://www.readbyqxmd.com/read/29226718/contribution-to-fe-modeling-for-intraoperative-pedicle-screw-strength-prediction
#3
Maxim Van den Abbeele, Jean-Marc Valiadis, Lucas V P C Lima, Pascal Khalifé, Philippe Rouch, Wafa Skalli
Although the use of pedicle screws is considered safe, mechanical issues still often occur. Commonly reported issues are screw loosening, screw bending and screw fracture. The aim of this study was to develop a Finite Element (FE) model for the study of pedicle screw biomechanics and for the prediction of the intraoperative pullout strength. The model includes both a parameterized screw model and a patient-specific vertebra model. Pullout experiments were performed on 30 human cadaveric vertebrae from ten donors...
December 10, 2017: Computer Methods in Biomechanics and Biomedical Engineering
https://www.readbyqxmd.com/read/29225986/intranodal-palisaded-myofibroblastoma-in-a-submandibular-lymph-node
#4
Leila Bouhajja, Raja Jouini, Olfa Khayat, Wafa Koubâa, Chiraz Mbarek, Ehsen Ben Brahim, Achraf Chedly-Debbiche
Intranodal palisaded myofibroblastoma (IPM), also known as "intranodal hemorrhagic spindle cell tumor with amianthoid fibers," is a rare benign mesenchymal tumor originating from smooth muscle cells and myofibroblasts, often with the presence of amianthoid fibers. Usually IPM affects inguinal lymph nodes, but three cases have been described in the submandibular and cervical lymph nodes. We report a new case of a 44-year-old women with submandibular mass. Cervical ultrasound showed a suspect right submandibular adenomegaly...
2017: Case Reports in Otolaryngology
https://www.readbyqxmd.com/read/29225790/update-on-ventilator-associated-pneumonia
#5
REVIEW
Jean-Francois Timsit, Wafa Esaied, Mathilde Neuville, Lila Bouadma, Bruno Mourvllier
Ventilator-associated pneumonia (VAP) is the most frequent life-threatening nosocomial infection in intensive care units. The diagnostic is difficult because radiological and clinical signs are inaccurate and could be associated with various respiratory diseases. The concept of infection-related ventilator-associated complication has been proposed as a surrogate of VAP to be used as a benchmark indicator of quality of care. Indeed, bundles of prevention measures are effective in decreasing the VAP rate. In case of VAP suspicion, respiratory secretions must be collected for bacteriological secretions before any new antimicrobials...
2017: F1000Research
https://www.readbyqxmd.com/read/29224587/the-prevalence-of-beh%C3%A3-et-s-disease-in-the-north-of-jordan-a-hospital-based-epidemiological-survey
#6
Wafa Y Madanat, Khaldoon M Alawneh, Mahmoud M Smadi, Salwa S Saadeh, Muntasser M Omari, Anas B Bani Hani, Hasan Yazici
OBJECTIVES: To estimate the prevalence of Behçet's disease (BD) in Jordan, with the additional aim of comparing this prevalence among hospital workers in other geographical areas. METHODS: In the first stage of our survey, 2,569 employees from 6 hospitals in north Jordan were interviewed using a screening questionnaire to identify individuals with recurrent oral ulcers (ROU), a previous diagnosis of BD (PDBD) and/or any major symptom related to BD. In the second stage, all individuals with ROU or PDBD identified at stage 1, were examined by 2 rheumatologists for the presence/confirmation of BD according to the International Study Group (ISG) criteria...
November 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/29209519/the-surgical-treatment-of-acromioclavicular-joint-injuries
#7
Michele Boffano, Stefano Mortera, Hazem Wafa, Raimondo Piana
Acromioclavicular joint (ACJ) injuries are common, but their incidence is probably underestimated. As the treatment of some sub-types is still debated, we reviewed the available literature to obtain an overview of current management.We analysed the literature using the PubMed search engine.There is consensus on the treatment of Rockwood type I and type II lesions and for high-grade injuries of types IV, V and VI. The treatment of type III injuries remains controversial, as none of the studies has proven a significant benefit of one procedure when compared with another...
October 2017: EFORT Open Reviews
https://www.readbyqxmd.com/read/29196848/left-sided-congenital-heart-lesions-in-mosaic-turner-syndrome
#8
Nouha Bouayed Abdelmoula, Balkiss Abdelmoula, Walid Smaoui, Imen Trabelsi, Rim Louati, Samir Aloulou, Wafa Aloulou, Fatma Abid, Senda Kammoun, Khaled Trigui, Olfa Bedoui, Hichem Denguir, Souad Mallek, Mustapha Ben Aziza, Jamila Dammak, Oldez Kaabi, Nawel Abdellaoui, Fatma Turki, Asma Kaabi, Wafa Kamoun, Jihen Jabeur, Wided Ltaif, Kays Chaker, Haytham Fourati, Samir M'rabet, Hedi Ben Ameur, Naourez Gouia, Mohamed Nabil Mhiri, Tarek Rebai
In the era of the diseasomes and interactome networks, linking genetics with phenotypic traits in Turner syndrome should be studied thoroughly. As a part of this stratagem, mosaicism of both X and Y chromosome which is a common finding in TS and an evaluation of congenital heart diseases in the different situations of mosaic TS types, can be helpful in the identification of disturbed sex chromosomes, genes and signaling pathway actors. Here we report the case of a mosaic TS associated to four left-sided CHD, including BAV, COA, aortic aneurysms and dissections at an early age...
December 1, 2017: Molecular Genetics and Genomics: MGG
https://www.readbyqxmd.com/read/29189526/rib-cage-measurement-reproducibility-using-biplanar-stereoradiographic-3d-reconstructions-in-adolescent-idiopathic-scoliosis
#9
Raphael Pietton, Houssam Bouloussa, Claudio Vergari, Wafa Skalli, Raphael Vialle
BACKGROUND: A reproducibility study of preoperative rib cage three-dimensional (3D) measurements was conducted for patients with Adolescent Idiopathic Scoliosis (AIS). No prior reliability study has been performed for preoperative 3D reconstructions of the rib cage by using stereoradiography in patients with preoperative AIS. Our objective was to assess the reliability of rib cage 3D reconstructions using biplanar stereoradiography in patients with AIS before surgery. METHODS: This series includes 21 patients with Lenke 1 or 2 scoliosis (74±20 degrees)...
November 16, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/29186145/respective-impact-of-implementation-of-prevention-strategies-colonization-with-multiresistant-bacteria-and-antimicrobial-use-on-the-risk-of-early-and-late-onset-vap-an-analysis-of-the-outcomerea-network
#10
Wafa Ibn Saied, Bertrand Souweine, Maité Garrouste-Orgeas, Stéphane Ruckly, Michael Darmon, Sébastien Bailly, Yves Cohen, Elie Azoulay, Carole Schwebel, Aguila Radjou, Hatem Kallel, Christophe Adrie, Anne-Sylvie Dumenil, Laurent Argaud, Guillaume Marcotte, Samir Jamali, Laurent Papazian, Dany Goldgran-Toledano, Lila Bouadma, Jean-Francois Timsit
RATIONALE: The impact of prevention strategies and risk factors for early-onset (EOP) versus late-onset (LOP) ventilator-associated pneumonia (VAP) are still debated. OBJECTIVES: To evaluate, in a multicenter cohort, the risk factors for EOP and LOP, as the evolution of prevention strategies. METHODS: 7,784 patients with mechanical ventilation (MV) for at least 48 hours were selected into the multicenter prospective OUTCOMEREA database (1997-2016)...
2017: PloS One
https://www.readbyqxmd.com/read/29184613/gender-differences-among-patients-with-acute-coronary-syndrome-in-the-middle-east
#11
Aliah Ali Khesroh, Faisal Al-Roumi, Ibrahim Al-Zakwani, Sreeja Attur, Wafa Rashed, Mohammad Zubaid
Background: There is controversy regarding the relationship between gender and acute coronary syndrome (ACS). Objective: To study the impact of gender on presentation, management, and mortality among patients with ACS in the Middle East. Methodology: From January 2012 to January 2013, 4057 patients with ACS were enrolled from four Arabian Gulf countries (Kuwait, Oman, United Arab Emirates, and Qatar), representing more than 85% of the general hospitals in each of the participating countries...
July 2017: Heart Views: the Official Journal of the Gulf Heart Association
https://www.readbyqxmd.com/read/29183284/robust-expression-of-tumor-suppressor-mirna-s-let-7-and-mir-195-detected-in-plasma-of-saudi-female-breast-cancer-patients
#12
Amal Qattan, Haya Intabli, Wafa Alkhayal, Chafica Eltabache, Taher Tweigieri, Suad Bin Amer
BACKGROUND: Female breast cancer is frequently diagnosed at a later stage and the leading cause of cancer deaths world-wide. Levels of cell-free circulating microRNAs (miRNAs) can potentially be used as biomarkers to measure disease progression in breast cancer patients in a non-invasive way and are therefore of high clinical value. METHODS: Using quantitative RT-PCR, circulating miRNAs were measured in blood samples collected from disease-free individuals (n = 34), triple-negative breast tumours (TNBC) (n = 36) and luminal tumours (n = 57)...
November 28, 2017: BMC Cancer
https://www.readbyqxmd.com/read/29153983/perceptions-intentions-and-behavioral-norms-that-affect-pre-license-driving-among-arab-youth-in-israel
#13
Anat Gesser-Edelsburg, Mina Zemach, Tsippy Lotan, Wafa Elias, Einat Grimberg
The present study examines reported pre-license driving among youth from the population of Arab citizens of Israel. The purpose of the present study is to examine which sociodemographic variables, attitudes and perceptions about safe driving and individual and societal behavioral norms are associated with pre-license driving. The research distinguished between the factors that actually contribute to pre-license driving (reported behavior, peer norms, gender and parents' messages) and the factors that explain the intention (parental authority, social norms, parents' messages and fear of road crashes)...
November 15, 2017: Accident; Analysis and Prevention
https://www.readbyqxmd.com/read/29142763/array-characterization-of-prenatally-diagnosed-15q26-microdeletion-and-2q37-1-duplication-report-of-a-new-case-with-multicystic-kidneys-and-review-of-the-literature
#14
Molka Kammoun, Wafa Slimani, Hanene Hannachi, Mohamed Bibi, Ali Saad, Soumaya Mougou-Zerelli
We report on a molecular cytogenetic characterization of 15q26 deletion and 2q37.1 duplication in a fetus presenting with intrauterine growth restriction (IUGR), diaphragmatic hernia, multicystic kidneys, left kidney pyelectasis, and clubfeet. A terminal 15q26 deletion and a terminal 2q duplication of at least 10 and 9 Mb, respectively, derived from a maternal translocation, were found. The 15q26 deletion represents a contiguous gene deletion syndrome mainly characterized by IUGR, congenital diaphragmatic hernia, and less frequently kidney defects...
December 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29129244/the-risk-for-hypoglycemia-during-ramadan-fasting-in-patients-with-adrenal-insufficiency
#15
Melika Chihaoui, Wafa Grira, Jihene Bettaieb, Meriem Yazidi, Fatma Chaker, Ons Rejeb, Ibtissem Oueslati, Moncef Feki, Naziha Kaabachi, Hedia Slimane
OBJECTIVES: The risk for hypoglycemia during Ramadan fasting in patients with adrenal insufficiency (AI) is not fully known. The aims of this study were to evaluate this risk objectively and to determine the associated factors. METHODS: This prospective case-crossover study included 25 women and 5 men with known and treated AI and a median age of 38.5 y. Patients underwent clinical examination and a fasting blood sample was collected to measure glucose, urea, creatinine, sodium, potassium, cortisol, growth hormone and free thyroxine...
January 2018: Nutrition
https://www.readbyqxmd.com/read/29119171/ultra-fast-vapor-generation-by-a-graphene-nano-ratchet-a-theoretical-and-simulation-study
#16
Hongru Ding, Guilong Peng, Shenqiu Mo, Dengke Ma, Swellam Wafa Sharshir, Nuo Yang
Vapor generation is of prime importance for a broad range of applications: domestic water heating, desalination and wastewater treatment, etc. However, slow and inefficient evaporation limits its development. In this study, a nano-ratchet, a multilayer graphene with cone-shaped nanopores (MGCN), to accelerate vapor generation has been proposed. By performing molecular dynamics simulation, we found that air molecules were spontaneously transported across MGCN and resulted in a remarkable pressure difference, 21 kPa, between the two sides of MGCN...
November 9, 2017: Nanoscale
https://www.readbyqxmd.com/read/29115992/role-of-mhealth-applications-for-improving-antenatal-and-postnatal-care-in-low-and-middle-income-countries-a-systematic-review
#17
Anam Feroz, Shagufta Perveen, Wafa Aftab
BACKGROUND: From 1990 to 2015, the number of maternal deaths globally has dropped by 43%. Despite this, progress in attaining MDG 5 is not remarkable in LMICs. Only 52% of pregnant women in LMICs obtain WHO recommended minimum of four antenatal consultations and the coverage of postnatal care is relatively poor. In recent years, the increased cellphone penetration has brought the potential for mHealth to improve preventive maternal healthcare services. The objective of this review is to assess the effectiveness of mHealth solutions on a range of maternal health outcomes by categorizing the interventions according to the types of mHealth applications...
November 7, 2017: BMC Health Services Research
https://www.readbyqxmd.com/read/29054598/phlebotomus-papatasi-yellow-related-and-apyrase-salivary-proteins-are-candidates-for-vaccination-against-human-cutaneous-leishmaniasis
#18
Aymen Tlili, Soumaya Marzouki, Emna Chabaane, Maha Abdeladhim, Wafa Kammoun-Rebai, Rahma Sakkouhi, Nabil Belhadj Hmida, Fabiano Oliveira, Shaden Kamhawi, Hechmi Louzir, Jesus G Valenzuela, Melika Ben Ahmed
Nowadays, there is no available vaccine for human leishmaniasis. Animal experiments demonstrate that pre-exposure to sand fly saliva confers protection against leishmaniasis. Our preceding work in humans indicates that Phlebotomus (P) papatasi saliva, induce the production of IL-10 by CD8+ T lymphocytes. The neutralization of IL-10 enhanced the activation of a T cells CD4+ population producing IFN-γ. Herein, we used a biochemical and functional genomics approach to identify the sand fly salivary components that are responsible for the activation of the Th1 immune response in humans therefore constituting potential vaccine candidates against leishmaniasis...
October 17, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29026694/a-systematic-review-and-meta-analysis-of-school-children-s-caries-studies-in-gulf-cooperation-council-states
#19
REVIEW
Wafa Alayyan, Manal Al Halabi, Iyad Hussein, Amar Khamis, Mawlood Kowash
OBJECTIVES: The aim of the present study was to evaluate the prevalence and severity of dental caries school children in the Gulf Cooperation Council (GCC) area, to help the development of systematic approaches for preventive oral care programs in the GCC states and to provide sound information for oral health promotion and public health care. MATERIALS AND METHODS: A comprehensive search to identify both published and unpublished articles concerning relevant studies of dental caries in children aged 6-16 years for their permanent teeth published from 1992 to 2016 with no language and time limit was performed...
September 2017: Journal of International Society of Preventive & Community Dentistry
https://www.readbyqxmd.com/read/29023574/human-cellular-and-humoral-immune-responses-to-phlebotomus-papatasi-salivary-gland-antigens-in-endemic-areas-differing-in-prevalence-of-leishmania-major-infection
#20
Wafa Kammoun-Rebai, Narges Bahi-Jaber, Ikbel Naouar, Amine Toumi, Afif Ben Salah, Hechmi Louzir, Amel Meddeb-Garnaoui
BACKGROUND: Sand fly saliva compounds are able to elicit specific immune responses that have a significant role in Leishmania parasite establishment and disease outcome. Characterizing anti-saliva immune responses in individuals living in well defined leishmaniasis endemic areas would provide valuable insights regarding their effect on parasite transmission and establishment in humans. METHODOLOGY/PRINCIPAL FINDINGS: We explored the cellular and humoral immune responses to Phlebotomus (P...
October 2017: PLoS Neglected Tropical Diseases
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