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https://www.readbyqxmd.com/read/29454299/congenital-forms-of-diabetes-the-beta-cell-and-beyond
#1
REVIEW
Lisa R Letourneau, Siri Atma W Greeley
The majority of patients diagnosed with diabetes less than 6 months of age, and many cases diagnosed between 6 and 12 months of age, have a gene mutation that causes permanent or transient hyperglycemia. Recent research advances have allowed for the discovery of new causes of congenital diabetes, including genes involved in pancreatic development (GATA4, NKX2-2, MNX1) and monogenic causes of autoimmune dysregulation (STAT3, LRBA). Ongoing follow-up of patients with KCNJ11 and ABCC8 mutations has supported the safety and efficacy of sulfonylureas, as well as the use of insulin pumps and continuous glucose monitors in infants with insulin-requiring forms of monogenic diabetes...
February 14, 2018: Current Opinion in Genetics & Development
https://www.readbyqxmd.com/read/29454180/tryptophan-kynurenine-and-lipid-related-metabolites-as-blood-biomarkers-for-first-episode-drug-na%C3%A3-ve-patients-with-major-depressive-disorder-an-exploratory-pilot-case-control-study
#2
Nobuki Kuwano, Takahiro A Kato, Daiki Setoyama, Mina Sato-Kasai, Norihiro Shimokawa, Kohei Hayakawa, Masahiro Ohgidani, Noriaki Sagata, Hiroaki Kubo, Junji Kishimoto, Dongchon Kang, Shigenob Kanba
BACKGROUND: Early intervention in depression has been critical to prevent its negative impact including suicide. Recent blood biomarker studies for major depressive disorder (MDD) have suggested that tryptophan-kynurenine and lipid related metabolites are involved in the pathophysiology of MDD. However, there have been limited studies investigating these blood biomarkers in first-episode drug-naïve MDD, which are particularly important for early intervention in depression. METHODS: As an exploratory pilot case-control study, we examined the above blood biomarkers, and analyzed how these biomarkers are associated with clinical variables in first-episode drug-naïve MDD patients, based on metabolome/lipidome analysis...
January 31, 2018: Journal of Affective Disorders
https://www.readbyqxmd.com/read/29454137/mechanisms-and-management-of-refractory-ventricular-arrhythmias-in-the-age-of-autonomic-modulation
#3
Jason S Bradfield, Olujimi A Ajijola, Marmar Vaseghi, Kalyanam Shivkumar
Ventricular arrhythmias are responsible for hundreds of thousands of deaths every year. Catheter ablation of ventricular tachycardia (VT) is an essential component of the management of these life-threatening arrhythmias. However, in many patients, despite medical and interventional therapy, VT recurs. Further, some VT substrates (mid-myocardial, left ventricular summit, intra-septal) are not easily targeted, due to limitations of currently available technology. In certain clinical settings, ventricular fibrillation (VF) episodes that have premature ventricular contraction (PVC) triggers can also be targeted with catheter ablation...
February 14, 2018: Heart Rhythm: the Official Journal of the Heart Rhythm Society
https://www.readbyqxmd.com/read/29454126/iatrogenic-spondylolisthesis-following-open-lumbar-laminectomy-case-series-and-review-of-the-literature
#4
Seba Ramhmdani, Yuanxuan Xia, Risheng Xu, Thomas Kosztowski, Daniel Sciubba, Timothy Witham, Ali Bydon
OBJECTIVE: The diagnosis and surgical management of post-laminectomy spondylolisthesis in patients without pre-operative instability is presented with a review of relevant literature. METHODS: We reviewed the medical records and radiographic studies of 105 patients who underwent first-time bilateral 1-4 level open laminectomies for degenerative lumbar disease at a single academic institution. Patients who initially presented with listhesis and had additional discectomy or fusion procedures were excluded...
February 14, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29454125/management-of-skull-base-tumors-in-the-obstetric-population-a-case-series
#5
Blake H Priddy, Bradley A Otto, Ricardo L Carrau, Daniel M Prevedello
BACKGROUND: Neoplasms rarely present during pregnancy. However, increase in plasma volume, hormone release induced growth, and tumor hypervascularity, can cause rapid symptoms. These range from not requiring intervention to necessitating emergent operations. OBJECTIVE: We describe an algorithm for the management of symptomatic neoplasm in the obstetric population, and provide recommendations regarding surgical indications and timing. METHODS: Patients who presented to a skull base clinic from 2010-2016 at large tertiary care hospital were reviewed to identify patients who presented with a skull base tumor during pregnancy...
February 14, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29454048/new-insights-into-the-molecular-characteristics-of-pulmonary-carcinoids-and-large-cell-neuroendocrine-carcinomas-and-the-impact-on-their-clinical-management
#6
REVIEW
J L Derks, N Leblay, S Lantuejoul, A M Dingemans, E J M Speel, L Fernandez-Cuesta
Carcinoids and large-cell neuroendocrine carcinomas (LCNEC) are rare neuroendocrine lung tumors. Here we provide an overview of the most updated data on the molecular characteristics of these diseases. Recent genomic studies showed that carcinoids generally contain a low mutational burden and few recurrently mutated genes. Most of the reported mutations occur in chromatin-remodeling genes (e.g. MEN1), and few affect genes of the PI3K-AKT-mTOR pathway. Aggressive disease has been related to chromothripsis, DNA-repair gene mutations, loss of OTP/CD44, and upregulation of RET gene expression...
February 14, 2018: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/29453996/systematic-review-of-botulinum-toxin-treatment-for-oromandibular-dystonia
#7
Cynthia L Comella
Oromandibular dystonia (OMD) is an isolated focal dystonia that affects the muscles of the jaw, lower face and tongue. It is a rare disorder but is associated with significant impairment in quality of life. Treatment with oral medications has not been successful. Surgical interventions, such as deep brain stimulation, may be of benefit but have not been adequately evaluated. Currently, botulinum toxin (BoNT) injections are regarded as the treatment of choice for OMD. However, the evidence supporting this is not available...
February 14, 2018: Toxicon: Official Journal of the International Society on Toxinology
https://www.readbyqxmd.com/read/29453969/s100-proteins-in-oral-squamous-cell-carcinoma
#8
REVIEW
Muhammad Arsalan Raffat, Naila Irum Hadi, Mervyn Hosein, Sana Mirza, Sana Ikram, Zohaib Akram
BACKGROUND: Controversy exists in the literature regarding the differential expression of S100 protein members and their functional correlations in oral squamous cell carcinoma (OSCC). The aim of the present study was to systematically review the expression of S100 protein family members among OSCC and healthy controls and to evaluate whether S100 protein members serve as diagnostic marker in OSCC. METHODS: Indexed databases were searched up to and including October 2017...
February 14, 2018: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/29453925/impact-of-opioid-therapy-on-gonadal-hormones-focus-on-buprenorphine
#9
REVIEW
Anjali Varma, Mamta Sapra, Ali Iranmanesh
Objective The USA is in the midst of an opioid crisis. Understanding the impact of opioids and commonly used treatments for opioid dependence is essential for clinicians and researchers in order to educate and treat the nation's growing population with opioid use disorders. As a relatively new treatment for opioid dependence, buprenorphine is gaining popularity to the extent of becoming not only a preferred approach to the maintenance of opiate addiction, but also an option for chronic pain management. The purpose of this report is to review the available evidence on the endocrine effects of buprenorphine, particularly as it relates to the hypothalamic-pituitary-gonadal (HPG) axis, which is controversial and not fully defined...
February 17, 2018: Hormone Molecular Biology and Clinical Investigation
https://www.readbyqxmd.com/read/29453876/prognostic-importance-of-fgf2-and-fgfr1-expression-for-patients-affected-by-ameloblastoma
#10
Felipe Paiva Fonseca, Bernar Monteiro Benites, Ciro Dantas Soares, Thayná Melo de Lima Morais, Gleyson Kleber do Amaral-Silva, Oslei Paes de Almeida, Fernando Augusto Soares, Eduardo Rodrigues Fregnani
BACKGROUND: Fibroblast growth factor 2 (FGF2) and FGF receptor 1 (FGFR1) have been investigated in different human neoplasms and were shown to play important roles in the pathogenesis of these diseases; however, very few is known regarding their prognostic importance in the context of ameloblastoma. Therefore, the aim of this study is to investigate if the expression of FGF2 and FGFR1 is associated with ameloblastoma clinical behavior. METHODS: Fifty-eight cases of ameloblastoma arranged in tissue microarray were submitted to immunohistochemistry against FGF2 and FGFR1...
February 17, 2018: Journal of Oral Pathology & Medicine
https://www.readbyqxmd.com/read/29453874/outcomes-of-early-dermatology-consultation-for-inpatients-diagnosed-with-cellulitis
#11
David G Li, Fan Di Xia, Hasan Khosravi, Anna K Dewan, Daniel J Pallin, Christopher W Baugh, Karl Laskowski, Cara Joyce, Arash Mostaghimi
Importance: Many inflammatory skin dermatoses mimic cellulitis (pseudocellulitis) and are treated with antibiotics and/or hospitalization, leading to unnecessary patient morbidity and substantial health care spending. Objective: To evaluate the impact of early dermatology consultation on clinical and economic outcomes associated with misdiagnosed cellulitis. Design, Setting, and Participants: This prospective cohort study enrolled patients with presumed diagnosis of cellulitis in the emergency department, in the emergency department observation unit, or within 24 hours of admission to an inpatient unit of a large urban teaching hospital between February and September 2017...
February 16, 2018: JAMA Dermatology
https://www.readbyqxmd.com/read/29453873/association-between-pemphigus-and-neurologic-diseases
#12
Khalaf Kridin, Shira Zelber-Sagi, Doron Comaneshter, Arnon D Cohen
Importance: The association between pemphigus and neurologic diseases was not evaluated systematically in the past. In a recent uncontrolled cross-sectional study, Parkinson disease was found to be significantly associated with pemphigus; in the same study, epilepsy had a nonsignificant association with pemphigus. Several case reports have suggested that pemphigus coexists with multiple sclerosis and dementia. Objective: To estimate the association between pemphigus and 4 neurologic conditions (dementia, epilepsy, Parkinson disease, and multiple sclerosis), using one of the largest cohorts of patients with pemphigus...
February 16, 2018: JAMA Dermatology
https://www.readbyqxmd.com/read/29453868/coexistent-solid-malignancies-in-pemphigus-a-population-based-study
#13
Khalaf Kridin, Shira Zelber-Sagi, Doron Comaneshter, Arnon D Cohen
Importance: The association of pemphigus vulgaris and pemphigus foliaceus with comorbid malignancies is yet to be firmly established. Objective: To estimate the association between pemphigus and a wide range of nonhematologic malignancies using one of the largest cohorts of patients with pemphigus to date. Design, Setting, and Participants: For this cross-sectional study, we used the computerized database of Clalit Health Services, the largest public health care provider organization in Israel insuring 4...
February 16, 2018: JAMA Dermatology
https://www.readbyqxmd.com/read/29453850/the-role-of-the-immune-system-in-kidney-disease
#14
REVIEW
Josefine Tecklenborg, David Clayton, Stefan Siebert, Shana M Coley
The immune system and the kidneys are closely linked. In health the kidneys contribute to immune homeostasis, while components of the immune system mediate many acute forms of renal disease and play a central role in progression of chronic kidney disease. A dysregulated immune system can have either direct or indirect renal effects. Direct immune-mediated kidney diseases are usually a consequence of autoantibodies directed against a constituent renal antigen, such as collagen IV in anti-glomerular basement membrane disease...
February 17, 2018: Clinical and Experimental Immunology
https://www.readbyqxmd.com/read/29453808/three-dimensional-printing-in-congenital-heart-disease-a-systematic-review
#15
REVIEW
Ivan Lau, Zhonghua Sun
Three-dimensional (3D) printing has shown great promise in medicine with increasing reports in congenital heart disease (CHD). This systematic review aims to analyse the main clinical applications and accuracy of 3D printing in CHD, as well as to provide an overview of the software tools, time and costs associated with the generation of 3D printed heart models. A search of different databases was conducted to identify studies investigating the application of 3D printing in CHD. Studies based on patient's medical imaging datasets were included for analysis, while reports on in vitro phantom or review articles were excluded from the analysis...
February 17, 2018: Journal of Medical Radiation Sciences
https://www.readbyqxmd.com/read/29453747/clinical-applications-of-patient-specific-models-the-case-for-a-simple-approach
#16
Jeffrey W Holmes, Joost Lumens
Over the past several decades, increasingly sophisticated models of the heart have provided important insights into cardiac physiology and are increasingly used to predict the impact of diseases and therapies on the heart. In an era of personalized medicine, many envision patient-specific computational models as a powerful tool for personalizing therapy. Yet the complexity of current models poses important challenges, including identifying model parameters and completing calculations quickly enough for routine clinical use...
February 16, 2018: Journal of Cardiovascular Translational Research
https://www.readbyqxmd.com/read/29453698/corneal-collagen-cross-linking-for-the-management-of-mycotic-keratitis
#17
Elif Erdem, Ibrahim Inan Harbiyeli, Hazal Boral, Macit Ilkit, Meltem Yagmur, Reha Ersoz
PURPOSE: To evaluate the efficiency of corneal collagen cross-linking (CXL) in addition to topical voriconazole in cases with mycotic keratitis. DESIGN: Retrospective case series in a tertiary university hospital. PARTICIPANTS: CXL was performed on 13 patients with mycotic keratitis who presented poor or no response to topical voriconazole treatment. METHODS: The clinical features, symptoms, treatment results and complications were recorded retrospectively...
February 16, 2018: Mycopathologia
https://www.readbyqxmd.com/read/29453652/significance-of-the-nonneoplastic-renal-parenchymal-findings-in-robotic-partial-nephrectomy-series
#18
Ercan Malkoç, Matthew J Maurice, Oktay Akça, Önder Kara, Homayoun Zargar, Hiury Andrade, Daniel Ramirez, Peter Caputo, Robert Stein, Demirjian Sevag, Jihad H Kaouk
AIM: To describe the pathological characteristics of the peritumoral non-neoplastic renal parenchyma (NNRP) and to investigate their impact on long-term renal function after partial nephrectomy. MATERIALS AND METHODS: In our institutional robotic partial nephrectomy database, we identified 394 cases with pathological assessment of the NNRP and long-term postoperative renal functional follow-up. The NNRP was classified as normal (healthy renal parenchyma) or abnormal, based on the presence of arteriosclerosis, glomerulosclerosis, interstitial fibrosis, interstitial inflammation, and/or tubulopapillary hyperplasia...
February 16, 2018: Journal of Nephrology
https://www.readbyqxmd.com/read/29453624/hydroxyurea-responses-in-clinically-varied-beta-hbe-beta-thalassaemia-and-sickle-cell-anaemia-patients-of-eastern-india
#19
Tridip Chatterjee, Amit Chakravarty, Sudipa Chakravarty
The haematological and clinical response to hydroxyurea was estimated in HbE-beta, beta thalassaemia and sickle cell anaemia patients of Eastern India, with variable clinical severity and transfusion requirement to determine whether hydroxyurea can help these patients to maintain their steady haemoglobin level without blood transfusions. Three hundred patients (189 HbE-beta thalassaemia, 95 beta thalassaemia and 16 other haemoglobinopathies including sickle cell anaemia) were selected for hydroxyurea therapy and were followed up for 48-60 months...
February 17, 2018: Annals of Hematology
https://www.readbyqxmd.com/read/29453551/characterization-of-hiv-recent-infection-among-high-risk-men-at-public-sti-clinics-in-mumbai
#20
Hong-Ha M Truong, Robin Fatch, Robert M Grant, Meenakshi Mathur, Sameer Kumta, Hemangi Jerajani, Timothy A Kellogg, Christina P Lindan
We examined associations with HIV recent infection and estimated transmitted drug resistance (TDR) prevalence among 3345 men at sexually transmitted infection clinics in Mumbai (2002-2005). HIV seroincidence was 7.92% by the BED-CEIA and was higher at a clinic located near brothels (12.39%) than at a hospital-based clinic (3.94%). HIV recent infection was associated with a lifetime history of female sex worker (FSW) partners, HSV-2, genital warts, and gonorrhea. TDR prevalence among recent infection cases was 5...
February 16, 2018: AIDS and Behavior
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