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https://www.readbyqxmd.com/read/29783273/clinical-and-genetic-features-of-congenital-myasthenic-syndromes-due-to-chat-mutations-case-report-and-literature-review
#1
Pinar Arican, Pinar Gencpinar, Dilek Cavusoglu, Nihal Olgac Dundar
Congenital myasthenic syndromes (CMS) are neuromuscular transmission disorders caused by mutations in genes encoding neuromuscular junction proteins. CMS due to choline acetyltransferase (CHAT) gene is characterized by episodic apnea. We report a case of a 12-month-old female patient presented with recurrent episodic apnea carrying a mutation in CHAT gene, p.I336T. Furthermore, we describe the genetic and clinical findings in 44 CMS patients due to CHAT mutations in the literature up to date. Episodes of apnea and respiratory insufficiency are the hallmarks of CHAT mutations...
May 21, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29783267/-conceptual-approaches-to-the-investigation-of-a-problem-of-professional-training-of-physical-therapists
#2
Anna V Fastivetz, Pavlo V Khomenko, Inna E Shaparenko
OBJECTIVE: Introduction:The level of people's health and its preservation is a medical problem that requires the optimal solution and the need to improve the management of the system of measures to achieve the goal. According to specialists, the health of Ukrainian people is accompanied by high mortality, significant parameters of disability and morbidity and a decrease in the average life expectancy. Diseases that lead to such negative medical and social and socio-economic consequences are so-called "illnesses of a way of life" or "diseases of civilization"...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29783248/-features-of-the-course-of-irritable-bowel-syndrome-in-patients-with-excess-body-weight
#3
Mykola A Bychkov, Iryna M Ferents
OBJECTIVE: Introduction: Currently, the diagnosis of irritable bowel syndrome (IBS) is only based on clinical symptoms without clear interpretation and can be interpreted differently, complicating the diagnosis. Therefore, to study features of the prevalence and the course of IBS in patients with excessive body weight / obesity is of particular significance nowadays. The aim of the research is to evaluate the prevalence and the course of IBS in patients with obesity. PATIENTS AND METHODS: Materials and methods: Observation results for 120 obese persons who underwent in-patient treatment at various hospital departments in Western Ukraine have been analyzed to evaluate the prevalence of IBS...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29783233/-multisemic-atrophy-a-description-of-the-clinical-case-of-olivopontocerebellar-atrophy-against-the-background-of-stenosing-atherosclerotic-vascular-lesions
#4
Kateryna A Tarianyk, Nataliya V Lytvynenko, Tetiana I Purdenko, Viсtoria M Gladka, Tatyana V Pluzhnikova, Elena N Zyablenko
Features of the onset, the course of the disease causes difficulties in the early diagnosis and formulation of the correct diagnosis. Olivopontocerebellar atrophy is characterized by a broad polymorphism of clinical manifestations. There is a need to develop new methods of symptomatic and neuroprotective treatment, as well as the optimization of non-drug therapy.
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29783216/-complex-of-psycho-hygienic-correction-measures-of-personality-features-of-hiv-infected-men-and-evaluation-of-their-efficiency
#5
Ihor V Serheta, Oksana B Dudarenko, Olha P Mostova, Tetiana V Lobastova, Vitalii M Andriichuk, Larysa M Vakolyuk, Olha M Yakubovska
OBJECTIVE: Introduction: In addition to adequate diagnosis and treatment of HIV-infected individuals, development, scientific substantiation and implementation of psycho-hygienic measures aimed at correcting the processes of forming personality traits and improving the psycho-emotional state of HIV-infected individuals are of particular importance. The aim: The purpose of the scientific research was to determine the most significant changes of situational and personal anxiety indicators, the degree of gravity of the asthenic state and depressive manifestations that were recorded in the context of the introduction of a number of measures for psycho-hygienic correction...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29783207/perspectives-for-applying-the-additional-study-methods-for-diagnostics-optimization-of-postoperative-hypertrophic-scars-of-the-head-and-neck
#6
David S Avetikov, Olha P Bukhanchenko, Ihor O Ivanytskyi, Viktoriia V Aipert, Dmytro V Steblovskyi
OBJECTIVE: Introduction: The issue of improving the quality of diagnosis, prevention and treatment of patients with pathological scarring of the head and neck is being actively developed throughout the world. The aim of the research is to improve diagnostics of hypertrophic scars of the head and neck through the establishment of structural features of scar-modified tissues using RGB-system and ultrasound examination. PATIENTS AND METHODS: Materials and methods: In this study, 60 patients with hypertrophic scars of the head and neck were examined...
2018: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29783081/recent-technological-advancements-in-tuberculosis-diagnostics-a-review
#7
REVIEW
Shagun Gupta, Vipan Kakkar
Early diagnosis and on-time effective treatment are indispensable for Tuberculosis (TB) control - a life threatening infectious communicable disease. The conventional techniques for diagnosing TB normally take two to three weeks. This delay in diagnosis and further increase in detection complexity due to the emerging risks of XDR-TB (Extensively drug Resistant-TB) and MDR-TB (Multidrug Resistant-TB) are evoking interest of researchers in the field of developing rapid TB detection techniques such as biosensing and other point-of-care (POC) techniques...
May 11, 2018: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/29783077/effects-of-prolonged-exposure-and-virtual-reality-exposure-on-suicidal-ideation-in-active-duty-soldiers-an-examination-of-potential-mechanisms
#8
REVIEW
Aaron M Norr, Derek J Smolenski, Greg M Reger
OBJECTIVE: The current study sought to investigate the effects of exposure therapy on suicidal ideation (SI), as well as potential mechanistic pathways of SI reduction among active duty military personnel. METHODS: Active duty army soldiers (N = 162) were recruited from a military base in the U.S. and were enrolled in a randomized clinical trial comparing Prolonged Exposure (PE), Virtual Reality Exposure (VRE), and a wait-list control for the treatment of posttraumatic stress disorder (PTSD) stemming from deployments to Iraq or Afghanistan...
May 12, 2018: Journal of Psychiatric Research
https://www.readbyqxmd.com/read/29783075/mir-19a-negatively-regulated-the-expression-of-pten-and-promoted-the-growth-of-ovarian-cancer-cells
#9
Yuhong Wang, Shuzhen Zhao, Lihong Zhu, Quanle Zhang, Yanfang Ren
Ovarian cancer is the most lethal malignancy of the women genital tract. Exploring novel factors involved in the development of ovarian cancer and characterizing the molecular mechanisms by which regulate the tumorigenesis of ovarian cancer are quite necessary. Here, we found that miR-19a was highly expressed in ovarian cancer tissues and cell lines. Overexpression of miR-19a promoted the viability of ovarian cancer cells, while down-regulation of miR-19a inhibited the growth of ovarian cancer cells. To further understand the underlying molecular mechanism of miR-19a in regulating ovarian cancer cell growth, the downstream targets of miR-19a were predicted...
May 18, 2018: Gene
https://www.readbyqxmd.com/read/29783049/thermopuncture-for-the-diagnosis-monitoring-and-treatment-of-patients-with-type-2-diabetes
#10
Valery Muzhikov, Elena Vershinina, Ruslan Muzhikov, Kirill Nikitin
BACKGROUND: Type 2 diabetes (T2D) is a socially significant disease that affects millions of patients. There were an estimated 366 million people with this disease in 2011, and, according to the forecast, approximately 552 million will be affected by this disease in 2030. It is well known that the primary diagnosis and treatment of a patient with this disease are quite expensive. What should be done to make it possible for a patient to monitor his own state and provide treatment in his own home using telemedicine? To solve this problem, an alternative concept for the diagnosis, monitoring, and treatment at the basis of traditional Chinese medicine (TCM) combined with mathematical methods of data processing has been used...
May 18, 2018: Journal of Acupuncture and Meridian Studies
https://www.readbyqxmd.com/read/29783036/retrospective-study-on-the-management-and-follow-up-of-18-patients-with-a-mid-urethral-sling-penetrating-the-urethra-or-bladder
#11
Edouard Goujon, Adélaide Jarniat, Florian Bardet, Lise Bergogne, Emmanuel Delorme
INTRODUCTION: The mid-urethral sling (MUS) procedure is the gold-standard for the surgical treatment of stress urinary incontinence (SUI). Urethro-vesical sling exposure is one of the most serious complications of this procedure. We describe the treatment and follow-up of 18 patients with bladder or urethral sling exposure. PATIENTS AND METHODS: This single-center, retrospective study assessed the diagnosis and management of MUS penetrating the lower urinary tract in 18 women...
May 18, 2018: Journal of Gynecology Obstetrics and Human Reproduction
https://www.readbyqxmd.com/read/29782923/clinical-applications-of-gut-microbiota-in-cancer-biology
#12
REVIEW
Sunny H Wong, Thomas N Y Kwong, Chun-Ying Wu, Jun Yu
The involvement of microorganisms in cancer has been increasing recognized. Collectively, microorganisms have been estimated to account for ~20% of all cancers worldwide. Recent advances in metagenomics and bioinformatics have provided new insights on the microbial ecology in different tumors, pinpointing the roles of microorganisms in cancer formation, development and response to treatments. Furthermore, studies have emphasized the importance of host-microbial and inter-microbial interactions in the cancer microbiota...
May 18, 2018: Seminars in Cancer Biology
https://www.readbyqxmd.com/read/29782901/basal-cell-carcinoma-part-ii-contemporary-approaches-to-diagnosis-treatment-and-prevention
#13
REVIEW
Michael C Cameron, Erica Lee, Brian Hibler, Cerrene N Giordano, Christopher A Barker, Shoko Mori, Miguel Cordova, Kishwer S Nehal, Anthony M Rossi
As the most common human cancer worldwide and continuing to increase in incidence, basal cell carcinoma is associated with significant morbidity and cost. Continued advances in research have refined both our insight and approach to this seemingly ubiquitous disease. This 2-part continuing medical education article will provide a comprehensive and contemporary review of basal cell carcinoma. Part II of this series will present both standard of care and newly developed approaches to diagnosis, treatment, and prevention of this disease...
May 18, 2018: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/29782813/actinomycotic-osteomyelitis-of-the-mandible-diagnosed-using-matrix-assisted-laser-desorption-ionization-time-of-flight-mass-spectrometry-a-case-report
#14
Shinsuke Yamamoto, Hiroshi Takegawa, Naoki Taniike, Toshihiko Takenobu
Actinomycosis is a rare, chronic, slowly progressive granulomatous disease caused by filamentous gram-positive anaerobic bacteria from the Actinomycetaceae family (genus Actinomyces). It has become a rare condition because of the widespread use of antibiotics. When clinical symptoms are not typical, diagnosis of this condition becomes difficult. This report describes a case involving an 82-year-old woman who was diagnosed with actinomycotic osteomyelitis of the mandible using matrix assisted laser desorption ionization-time-of-flight mass spectrometry (MALDI-TOF MS)...
April 26, 2018: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/29782495/molecular-immunological-and-neurophysiological-evaluations-for-early-diagnosis-of-neural-impairment-in-seropositive-leprosy-household-contacts
#15
Diogo Fernandes Dos Santos, Matheus Rocha Mendonça, Douglas Eulálio Antunes, Elaine Fávaro Pípi Sabino, Raquel Campos Pereira, Luiz Ricardo Goulart, Isabela Maria Bernardes Goulart
BACKGROUND: Household contacts constitute the highest risk group for leprosy development, and despite significant progress in the disease control, early diagnosis remains the primary goals for leprosy management programs. METHODS: We have recruited 175 seropositive and 35 seronegative household contacts from 2014 to 2016, who were subjected to an extensive protocol that included clinical, molecular (peripheral blood qPCR, slit-skin smear qPCR, skin biopsy qPCR) and electroneuromyographic evaluations...
May 21, 2018: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/29782414/osteomyelitis-a-context-for-wound-management
#16
Mary E Groll, Timothy Woods, Richard Salcido
GENERAL PURPOSE: To provide an overview of osteomyelitis. TARGET AUDIENCE: This continuing education activity is intended for physicians, physician assistants, nurse practitioners, and nurses with an interest in skin and wound care. LEARNING OBJECTIVES/OUTCOMES: After completing this continuing education activity, you should be able to:1. Distinguish the pathogenesis of osteomyelitis in children and adults.2. Identify practical considerations for diagnosis and evidence-based treatment of osteomyelitis...
June 2018: Advances in Skin & Wound Care
https://www.readbyqxmd.com/read/29782382/an-update-on-pcos-in-adolescents
#17
Shannon Fitzgerald, Amy DiVasta, Holly Gooding
PURPOSE OF REVIEW: Polycystic ovarian syndrome (PCOS) is a common endocrinopathy which can be difficult to treat in adolescents. Fortunately, early identification and treatment can help mitigate some of the metabolic complications. In this review, we reflect on recent literature regarding PCOS diagnosis, associated complications, and treatment options. RECENT FINDINGS: Although there are three well known criteria to diagnose PCOS, they can be difficult to translate to adolescence...
May 17, 2018: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/29782366/single-agent-bevacizumab-in-recurrent-glioblastoma-after-second-line-chemotherapy-with-fotemustine-the-experience-of-the-italian-association-of-neuro-oncology
#18
Francesco Pasqualetti, Andrea Pace, Alessandra Gonnelli, Veronica Villani, Martina Cantarella, Durim Delishaj, Caterina Vivaldi, Alessandro Molinari, Sabrina Montrone, Alessia Pellerino, Federica Franchino, Davide Baldaccini, Giuseppe Lombardi, Ivan Lolli, Francesca Catania, Elena Bazzoli, Riccardo Morganti, Alessandra Fabi, Vittorina Zagonel, Guido Bocci, Maria Grazia Fabrini, Roberta Rudà, Riccardo Soffietti, Fabiola Paiar
OBJECTIVES: Bevacizumab is an anti-vascular endothelial growth factor antibody used in the treatment of recurrent glioblastoma (GBM). Despite the large number of studies carried out in patients with recurrent GBM, little is known about the administration of this angiogenesis inhibitor after the failure of the second-line chemotherapy. MATERIALS AND METHODS: In this retrospective multicenter study, on behalf of the Italian Association of Neuro-Oncology, we reported the results obtained in 51 patients with recurrent GBM treated with single-agent bevacizumab after the failure of second-line chemotherapy with fotemustine...
May 18, 2018: American Journal of Clinical Oncology
https://www.readbyqxmd.com/read/29782352/an-update-on-the-management-of-pancreatic-neuroendocrine-tumors
#19
Limin Gao, Nikola S Natov, Kevin P Daly, Faisal Masud, Sadia Chaudhry, Mark J Sterling, Muhammad W Saif
Pancreatic neuroendocrine tumors (PNETs) are a rare and heterogeneous group of neoplasia and differ in their clinical presentation, behavior, and prognosis based on both histological features and cancer stage at the time of diagnosis. Although small-sized tumors can be surgically resected, locally advanced and metastatic tumors confer a poor prognosis. In addition, only limited treatment options are available to the latter group of patients with PNETs, such as hormonal analogs, cytotoxic agents, and targeted therapy...
May 8, 2018: Anti-cancer Drugs
https://www.readbyqxmd.com/read/29782333/the-role-of-clinic-blood-pressure-for-the-diagnosis-of-hypertension
#20
Mohamed Ayan, Sabeeda Kadarath, Patrick T Campbell
PURPOSE OF REVIEW: Recent data from randomized clinical trials and updates to hypertension guidelines warrant a review of the literature for the diagnosis and management of hypertension in the clinic setting. Although there have been significant advances in ambulatory blood pressure (BP) monitoring and home BP monitoring, office BP (OBP) measurements remains the primary means of diagnosis and treatment. RECENT FINDINGS: The current review focuses on updated guidelines, proper technique, device selection, and the recent controversy regarding unattended BP measurements...
May 17, 2018: Current Opinion in Cardiology
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