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https://www.readbyqxmd.com/read/27922245/a-novel-mutation-in-a-case-of-pseudohypoparathyroidism-type-ia
#1
Birgül Kırel, Meliha Demiral, Özkan Bozdağ, Kadri Karaer
Pseudohypoparathyroidism (PHP) type Ia is characterized by multiple hormone resistance; primarily parathyroid hormone (PTH) resistance and Albright's hereditary osteodystrophy (AHO) which involves skeletal and developmental defects. The AHO phenotype alone without hormone resistance is defined as pseudoPHP. A boy was first diagnosed as having both rickets and primary hypothyroidism at 2.5 months of age. His calcium level remained within normal levels after vitamin D treatment, but, elevated PTH and ALP levels and normal-high phosphate levels persisted during his follow-up by age of 2...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27922244/a-novel-de-novo-mutation-involving-the-mll2-gene-in-a-kabuki-syndrome-patient-presenting-with-seizures
#2
Can Ebru Bekircan-Kurt, Pelin Özlem Şimşek-Kiper, Koray Boduroğlu, Neşe Dericioğlu
Kabuki syndrome is a rare multiple congenital anomaly disorder. Although mental retardation is one of the main features, various neurological symptoms such as hypotonia and seizures can occur. Here we report on a 18-year-old Turkish male patient who was diagnosed previously as Kabuki syndrome. Molecular genetic analysis showed a novel de novo heterozygous mutation (c.12964C > T [p.Gln4322*] ) in the MLL2 gene, that leads to the synthesis of a truncated protein. The aim of the present report is to increase the awareness of Kabuki Syndrome among adult neurologists and to present a previously unreported non-sense mutation in the MLL2 gene...
2016: Turkish Journal of Pediatrics
https://www.readbyqxmd.com/read/27922227/increasing-knowledge-and-confidence-in-behavioral-change-a-pilot-study
#3
Elizabeth P Frates, Ryan C Xiao, Kate Simeon, Tracie McCargo, Michelle Guo, Theodore A Stern
Objective: To assess whether and how effectively an interactive presentation about lifestyle medicine could impact the knowledge and attitudes of medical students to prepare them for managing chronic conditions in their patients. Chronic diseases are increasingly prevalent and problematic. Although chronic disease management involves lifestyle modification, few physicians are adequately trained in effective motivational interventions. Methods: We surveyed first- and second-year Harvard Medical School students in October 2015 before and after a presentation on lifestyle medicine and quantified changes in their knowledge, attitudes/confidence, and skills...
November 24, 2016: Primary Care Companion to CNS Disorders
https://www.readbyqxmd.com/read/27922210/comparison-between-thoracic-radiographic-findings-and-postmortem-diagnosis-of-thoracic-diseases-in-dyspneic-companion-rats-rattus-norvegicus
#4
Virginie Fouriez-Lablée, Claire Vergneau-Grosset, Philip H Kass, Allison L Zwingenberger
Companion rats are often presented to veterinarians for respiratory difficulties. Dyspnea in rats is most commonly due to infectious pneumonia, and thoracic neoplasia can go undiagnosed ante mortem due to a mistaken interpretation of pneumonia. In domestic carnivores, pulmonary nodular patterns have been shown to correlate with lung neoplastic diseases and infectious diseases. The main objective of this retrospective case series study was to determine whether certain radiographic criteria could be correlated with the presence of thoracic infectious disease and neoplastic disease in companion rats...
December 6, 2016: Veterinary Radiology & Ultrasound
https://www.readbyqxmd.com/read/27922202/current-practices-for-screening-consent-and-care-of-related-donors-in-france-haematopoietic-stem-cell-transplantation-coordinator-nurses-perceptions
#5
A Polomeni, C Bompoint, A Gomez, E Brissot, A Ruggeri, R Belhocine, M Mohty
Haematopoietic stem cell transplantation-coordinating nurses (HSCT-CNs) play an important role in informing related donors (RDs) and in organising human leucocyte antigen (HLA) tests, pre-donation workup and stem cells collection. Our pilot study aimed to explore French HSCT-CNs' perceptions of RD care issues. Twenty-nine French HSCT adult units were sent a questionnaire on the subject of donation procedures, HSCT-CNs' data and their professional experience of related donation issues. Twenty-two HSCT-CNs returned a completed questionnaire, and 90% of HSCT units were involved to some degree in both patient and donor care...
December 6, 2016: European Journal of Cancer Care
https://www.readbyqxmd.com/read/27922198/dnmt1-modulation-in-chronic-hepatitis-b-patients-and-hypothetic-influence-on-mitochondrial-dna-methylation-status-during-long-term-nucleo-t-side-analogues-therapy
#6
Giordano Madeddu, Silvia Ortu, Giovanni Garrucciu, Ivana Maida, Michela Melis, Alberto Augusto Muredda, Maria Stella Mura, Sergio Babudieri
Inhibition of viral replication is the most important goal in patients with Hepatitis B virus chronic infection (CHB). Currently, five oral nucleo(t)side analogues (NAs), including Lamivudine, Adefovir, Telbivudine, Entecavir and Tenofovir, have been approved for treatment. The widespread use of NAs has also been linked with a progressive growth of unlikely anomaly attributable to mitochondrial dysfunctions, not previously recognized. Here we explore the hypothesis that NAs may cause persistent epigenetic changes during prolonged NAs therapy in CHB patients...
December 6, 2016: Journal of Medical Virology
https://www.readbyqxmd.com/read/27922103/hypothalamic-activation-is-essential-for-endotoxemia-induced-acute-muscle-wasting
#7
Kaipeng Duan, Qiyi Chen, Minhua Cheng, Chenyan Zhao, Zhiliang Lin, Shanjun Tan, Fengchan Xi, Tao Gao, Jialiang Shi, Juanhong Shen, Weiqin Li, Wenkui Yu, Jieshou Li, Ning Li
Growing evidence suggests acute skeletal muscle wasting is a key factor affecting nutritional support and prognosis in critical patients. Previously, plenty of studies of muscle wasting focused on the peripheral pathway, little was known about the central role. We tested the hypothesis whether central inflammatory pathway and neuropeptides were involved in the process. In lipopolysaccharide (LPS) treated rats, hypothalamic NF-κB pathway and inflammation were highly activated, which was accompanied with severe muscle wasting...
December 6, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27921418/-diabetic-foot-syndrome-from-the-perspective-of-internist-educated-in-podiatry
#8
Alexandra Jirkovská
Podiatry is the science dealing with the diagnostics and treatment of the foot and ankle and associated tissues and structures by all appropriate methods and also with the local manifestation of the overall processes in this area. Diabetic foot disease is defined as infection, ulceration or destruction of tissues of the foot associated with neuropathy and/or peripheral artery disease in the lower extremity of people with diabetes according to the latest edition of the International Consensus. Successful treatment and prevention of diabetic foot syndrome depends on a holistic approach, in which it is seen as part of the multiple organ involvement...
2016: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/27921415/the-roles-of-t-helper-1-t-helper-17-and-regulatory-t-cells-in-the-pathogenesis-of-sarcoidosis
#9
Esmaeil Mortaz, Fatemeh Rezayat, Davar Amani, Arda Kiani, Johan Garssen, Ian M Adcock, Aliakbar Velayati
Sarcoidosis is a systemic granulomatous disorder of unidentified etiology, with a heterogeneous clinical presentation. It is characterized by a reduced delayed-type hypersensitivity to tuberculin and common antigens. The balance between Th1, Th17 and Regulatory T(Treg) cells controls T-cell proliferation and activation.The Th17/Treg ratio in the peripheral blood and bronchoalveolar lavage fluidis increased in patients with active sarcoidosis. Amplified IL-17A expression in granulomas and the presence of IL-17A+, IL-17A+IL-4+ and IL-17A+IFN-γ+ memory T helper cells in the circulation and BAL indicate Th17 cell involvement in granuloma induction and/or maintenance in sarcoidosis...
August 2016: Iranian Journal of Allergy, Asthma, and Immunology
https://www.readbyqxmd.com/read/27921409/hla-drb-and-hla-dqb-allele-and-haplotype-frequencies-in-iranian-patients-with-recurrent-aphthous-stomatitis
#10
Shamsolmoulouk Najafi, Mahsa Mohammadzadeh, Alireza Zare Bidoki, Ghasem Meighani, Saeed Aslani, Mahdi Mahmoudi, Nima Rezaei
Recurrent aphthous stomatitis (RAS) is known as the most common chronic disease of the oral cavity, which affects a range of 5-25% of the population. RAS appears to be associated with some human leukocyte antigen (HLA) class II alleles and haplotypes. This study attempts to survey the distribution of HLA-DRB and -DQB alleles among Iranian RAS patients and healthy controls. In order to evaluate the association of HLA-DR and DQ alleles and haplotypes, 54 patients with RAS and 100 unrelated healthy subjects as control group were investigated...
August 2016: Iranian Journal of Allergy, Asthma, and Immunology
https://www.readbyqxmd.com/read/27921407/trefoil-factor-family-1-is-involved-in-airway-remodeling-of-mustard-lung
#11
Mohammad Reza Nourani, Zahra Farajpour, Ali Najafi, Abbas Ali Imani Fooladi
Human airway is generally destructed by inhaled factors and is the barrier to the external environment and has a crucial role in protection of the internal homeostasis of the lung. Sulfur mustard (SM) is a chemical warfare that capable of producing severe chemical injuries primarily in the lungs. Trefoil factor family (TFFs) plays major roles in epithelial repair and homeostasis, particularly in the lung. This study attempted to verify the role of TFFs in airway that induced by sulfur mustard. Fifteen patients exposed to SM and 10 non-exposed subjects were enrolled in this study...
August 2016: Iranian Journal of Allergy, Asthma, and Immunology
https://www.readbyqxmd.com/read/27921376/diagnostic-accuracy-of-serum-cystatin-c-for-the-evaluation-of-renal-dysfunction-in-diabetic-patients-a-meta-analysis
#12
Shi-Kun Yang, Jun Liu, Xian-Ming Zhang, Chun Hu, Wei Zhang, Lin Sun, Hao Zhang
This study aimed to evaluate the diagnostic value of serum cystatin C for renal dysfunction in diabetic patients. Eligible trials were searched from multiple databases, the data were extracted into a 2 × 2 table after the quality assessment of included articles. The pooled sensitivity, specificity and other parameters of accuracy of cystatin C were analyzed using Stata version 12.0. Seventeen studies involving 2173 patients were included. The pooled sensitivity and specificity of serum cystatin C for the diagnosis of renal dysfunction were 0...
December 6, 2016: Therapeutic Apheresis and Dialysis
https://www.readbyqxmd.com/read/27921329/preventive-dental-visiting-a-critical-interpretive-synthesis-of-theory-explaining-how-inequalities-arise
#13
Rebecca V Harris, Andrew Pennington, Margaret Whitehead
BACKGROUND: In many countries, those with lower socioeconomic status are disproportionately affected by poor oral health. This can be attributed, at least in part, to differences in preventive dental visiting. While several theories have been applied to the area, they generally fail to capture the recursive nature of dental visiting behaviour, and fall short of informing the design of complex interventions to tackle inequalities. OBJECTIVE: To undertake a systematic review and synthesis of theory in order to provide an overview of the pathways which bring about socioeconomic inequalities in early dental visiting, and identify possible intervention points...
December 6, 2016: Community Dentistry and Oral Epidemiology
https://www.readbyqxmd.com/read/27921278/bronchobiliary-fistula-caused-after-hepatectomy-for-hepatocellular-carcinoma-a-case-report
#14
Seikan Hai, Yuji Iimuro, Tadamichi Hirano, Kazuhiro Suzumura, Akito Yada, Jiro Fujimoto
BACKGROUND: A bronchobiliary fistula, an intercommunication between the biliary tract and bronchial trees, is an extremely rare complication after hepatectomy. CASE PRESENTATION: A 70-year-old male underwent partial resection of the liver for recurrent hepatocellular carcinoma under a thoracoabdominal approach. The immediate postoperative clinical course was uneventful, but the patient was febrile and laboratory examinations revealed leukocytosis on the 15th postoperative day...
December 2016: Surgical Case Reports
https://www.readbyqxmd.com/read/27921260/development-of-oral-flexible-tablet-oft-formulation-for-pediatric-and-geriatric-patients-a-novel-age-appropriate-formulation-platform
#15
Prabagaran Chandrasekaran, Ruckmani Kandasamy
Development of palatable formulations for pediatric and geriatric patients involves various challenges. However, an innovative development with beneficial characteristics of marketed formulations in a single formulation platform was attempted. The goal of this research was to develop solid oral flexible tablets (OFTs) as a platform for pediatrics and geriatrics as oral delivery is the most convenient and widely used mode of drug administration. For this purpose, a flexible tablet formulation using cetirizine hydrochloride as model stability labile class 1 and 3 drug as per the Biopharmaceutical Classification System was developed...
December 5, 2016: AAPS PharmSciTech
https://www.readbyqxmd.com/read/27921248/the-molecular-pathogenesis-of-schwannomatosis-a-paradigm-for-the-co-involvement-of-multiple-tumour-suppressor-genes-in-tumorigenesis
#16
REVIEW
Hildegard Kehrer-Sawatzki, Said Farschtschi, Victor-Felix Mautner, David N Cooper
Schwannomatosis is characterized by the predisposition to develop multiple schwannomas and, less commonly, meningiomas. Despite the clinical overlap with neurofibromatosis type 2 (NF2), schwannomatosis is not caused by germline NF2 gene mutations. Instead, germline mutations of either the SMARCB1 or LZTR1 tumour suppressor genes have been identified in 86% of familial and 40% of sporadic schwannomatosis patients. In contrast to patients with rhabdoid tumours, which are due to complete loss-of-function SMARCB1 mutations, individuals with schwannomatosis harbour predominantly hypomorphic SMARCB1 mutations which give rise to the synthesis of mutant proteins with residual function that do not cause rhabdoid tumours...
December 5, 2016: Human Genetics
https://www.readbyqxmd.com/read/27921218/from-problem-solving-to-problem-definition-scrutinizing-the-complex-nature-of-clinical-practice
#17
Sayra Cristancho, Lorelei Lingard, Glenn Regehr
In medical education, we have tended to present problems as being singular, stable, and solvable. Problem solving has, therefore, drawn much of medical education researchers' attention. This focus has been important but it is limited in terms of preparing clinicians to deal with the complexity of the 21st century healthcare system in which they will provide team-based care for patients with complex medical illness. In this paper, we use the Soft Systems Engineering principles to introduce the idea that in complex, team-based situations, problems usually involve divergent views and evolve with multiple solution iterations...
December 5, 2016: Perspectives on Medical Education
https://www.readbyqxmd.com/read/27921204/a-case-of-double-depressor-palsy-followed-by-pursuit-deficit-due-to-sequential-infarction-in-bilateral-thalamus-and-right-medial-superior-temporal-area
#18
Su Jin Kim, Myeong In Yeom, Seung Uk Lee
BACKGROUND: We present a unique case of a patient who suffered two rare events affecting the supranuclear control, first of the vertical and second of the horizontal eye movements. The first event involved bilateral thalamic infarcts that resulted in double depressor palsy. The second event occurred 1 year later and it involved supranuclear control of horizontal eye movements creating pursuit deficit. CASE PRESENTATION: A 47-year-old male presented with complaints of diplopia upon awakening...
December 5, 2016: International Ophthalmology
https://www.readbyqxmd.com/read/27921203/treatment-of-uncomplicated-type-b-aortic-dissection
#19
REVIEW
Hitoshi Matsuda
Hospital mortality after the replacement of chronic type B aortic dissection is around 8-10% and adverse outcomes include paraplegia and stroke. However, the level of evidence for indication of thoracic endovascular aortic repair (TEVAR) for type B chronic aortic dissection is Class IIa. Results of the INSTEAD-XL trial have verified that preemptive TEVAR for uncomplicated type B aortic dissection improves prognosis. The indication for this procedure is reportedly a maximum aortic diameter >40 mm during the acute phase and a patent primary entry site in the thoracic aorta, while the optimal timing for TEVAR would be the subacute phase, from 2 weeks to 3-6 months after onset...
December 5, 2016: General Thoracic and Cardiovascular Surgery
https://www.readbyqxmd.com/read/27921158/long-term-outcome-of-percutaneous-alcohol-embolization-combined-with-percutaneous-vertebroplasty-in-aggressive-vertebral-hemangiomas-with-epidural-extension
#20
Kévin Premat, Frédéric Clarençon, Évelyne Cormier, Jugurtha Mahtout, Raphaël Bonaccorsi, Vincent Degos, Jacques Chiras
OBJECTIVES: To evaluate, on a long-term basis, the safety and effectiveness of percutaneous alcohol embolization (PAE) combined with percutaneous vertebroplasty (PVP) as a sole treatment for aggressive vertebral haemangiomas (AVHs) with epidural extension. METHODS: From 1996 to 2015, 26 consecutive patients (15 women [58%] and 11 men; mean age 51.8 years [range: 19-75 years]) underwent PAE combined with PVP (performed at day 15) for the treatment of 27 AVHs with epidural extension...
December 5, 2016: European Radiology
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