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https://www.readbyqxmd.com/read/28629849/analysis-of-archived-newborn-dried-blood-spots-dbs-identifies-congenital-cytomegalovirus-as-a-major-cause-of-unexplained-pediatric-sensorineural-hearing-loss
#1
Lucy Meyer, Bazak Sharon, Tina C Huang, Abby C Meyer, Kristin E Gravel, Lisa A Schimmenti, Elizabeth C Swanson, Hannah E Herd, Nelmary Hernandez-Alvarado, Kirsten R Coverstone, Mark McCann, Mark R Schleiss
PURPOSE: Congenital cytomegalovirus (cCMV) infection is the most common non-genetic cause of sensorineural hearing loss (SNHL). However, accurate diagnosis of cCMV as the etiology of SNHL is problematic beyond the neonatal period. This study therefore examined whether cCMV infection could be identified retrospectively in children presenting with unexplained SNHL to a multidisciplinary diagnostic outpatient otolaryngology clinic at an academic medical center in Minnesota. METHODS: Over a 4-year period, 57 patients with an age range of 3months to 10years with unexplained SNHL were recruited to participate in this study...
June 7, 2017: American Journal of Otolaryngology
https://www.readbyqxmd.com/read/28623933/transferring-research-from-a-university-to-the-united-kingdom-national-health-service-the-implications-for-impact
#2
Helen Payne
The aim of this article is to inform readers of the author's reflections on the experience of transferring university-based research into the commercial sector, and of the processes and strategies employed when preparing for impact in so doing. Concepts for the transfer are illustrated by the author's reflection on aspects that arose during the birthing and subsequent start-up of a university spin-off, Pathways2Wellbeing, a form of reflection-on-action. This is the vehicle for the adaption required to transfer research into the delivery of a specialised clinic in the United Kingdom National Health Service for people with medically unexplained, persistent, bodily symptoms such as fibromyalgia, chronic fatigue and chronic pain...
June 17, 2017: Health Research Policy and Systems
https://www.readbyqxmd.com/read/28623857/vincristine-induced-neuropathy-in-pediatric-patients-with-acute-lymphoblastic-leukemia-in-oman-frequent-autonomic-and-more-severe-cranial-nerve-involvement
#3
Hanan F Nazir, Amna AlFutaisi, Mathew Zacharia, Mohamed Elshinawy, Surekha T Mevada, Abdulhakim Alrawas, Doaa Khater, Deepali Jaju, Yasser Wali
BACKGROUND: Vincristine (VCR) induced peripheral neuropathy is a common complication in children with acute lymphoblastic leukemia (ALL). PROCEDURES: A retrospective data analysis over an interval of 10 years (2006-2016) of all children with ALL seen at Sultan Qaboos University Hospital was carried out. Electronic medical records of eligible patients were reviewed. Patients with clinical evidence of neuropathy and abnormal nerve conduction studies (NCSs) were included in the study...
June 17, 2017: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/28619360/further-delineation-of-cog8-cdg-a-case-with-novel-compound-heterozygous-mutations-diagnosed-by-targeted-exome-sequencing
#4
Aram Yang, Sung Yoon Cho, Ja-Hyun Jang, Jinsup Kim, Sook Za Kim, Beom Hee Lee, Han-Wook Yoo, Dong-Kyu Jin
Congenital disorders of glycosylation (CDG) are a rapidly expanding group of inherited metabolic disorders with highly variable clinical presentations caused by deficient glycosylation of proteins and/or lipids. CDG-IIh is a very rare subgroup of CDG caused by mutations in the conserved oligomeric Golgi (COG) complex gene, COG8, and so far, only two cases have been reported in the medical literature. Here, we describe an 8-year-old Korean boy with psychomotor retardation, hypotonia, failure to thrive, elevated serum liver enzymes, microcephaly, and talipes equinovarus...
June 13, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28618323/a-systematic-review-of-trends-in-the-selective-exclusion-of-older-participant-from-randomised-clinical-trials
#5
REVIEW
Miriam Thake, Andrew Lowry
INTRODUCTION: The unjustified exclusion of older participants from clinical trials creates research populations that are non-representative, in turn creating difficulties applying research to the target populations. The aim of this study was to assess the proportion of randomised control trials (RCTs) that have unexplained upper age limits and review whether this proportion is reducing over time. METHODS: All RCTs in BMJ, Lancet, JAMA and NEJM from 1998 to 2015 were reviewed to identify any specified upper-age cut off and, if so, whether this exclusion criterion had an explanation in the text...
June 7, 2017: Archives of Gerontology and Geriatrics
https://www.readbyqxmd.com/read/28617903/association-between-patient-review-of-systems-score-and-somatization
#6
Tyler Stephen Okland, Joseph Robert Gonzalez, Alexander Thomas Ferber, Scott Edward Mann
Importance: Somatization is a condition in which psychological distress is manifested by medically unexplained symptoms, and it is prevalent in all medical specialties, including otolaryngology. Recognition of somatization can be difficult, and there are limited methods available. Objectives: To determine whether patients with somatization respond differently to the review of systems (ROS) portion of the patient interview and whether the ROS can be used to identify patients with somatization...
June 15, 2017: JAMA Otolaryngology—Head & Neck Surgery
https://www.readbyqxmd.com/read/28611051/sulfhaemoglobinaemia-caused-by-ferrous-sulfate
#7
Laith Derbas, Mohamed Warsame, Mohannad Abu Omar, Yousaf Zafar, Gregory Howell
A 78-year-old man was referred from his primary care clinic to the emergency department due to bluish discolouration of his lips and decreased oxygen saturation on pulse oximetry. The patient was asymptomatic. Physical exam was normal except for lip cyanosis. A CT pulmonary angiogram was negative for pulmonary embolism. Arterial blood gas (ABG) analysis with co-oximetry showed low oxyhaemoglobin, normal partial pressure of oxygen and methaemoglobinaemia, but an unexplained 'gap' in total haemoglobin saturation...
June 13, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28600177/compound-heterozygous-kcnq1-mutations-a300t-p535t-in-a-child-with-sudden-unexplained-death-insights-into-possible-molecular-mechanisms-based-on-protein-modeling
#8
Erika Antúnez-Argüelles, Arturo Rojo-Domínguez, Ana Leticia Arregui-Mena, Leonor Jacobo-Albavera, Manlio Fabio Márquez, Pedro Iturralde-Torres, María Teresa Villarreal-Molina
Sudden death in a child is a devastating event with important medical implications for surviving relatives. Because it may be the first manifestation of unknown inherited cardiac disease, molecular autopsy can be helpful to determine the cause of death and identify at risk family members. The aim of the study was to perform a molecular autopsy in a seven year-old girl with sudden unexplained death, to find evidence supporting the possible pathogenicity of mutations identified in inherited cardiac disease genes, and to clinically and genetically assess first-degree relatives...
June 6, 2017: Gene
https://www.readbyqxmd.com/read/28591847/implementing-targeted-expectant-management-in-fertility-care-using-prognostic-modelling-a-cluster-randomized-trial-with-a-multifaceted-strategy
#9
F A M Kersten, W L D M Nelen, N M van den Boogaard, M M van Rumste, C A Koks, J IntHout, H R Verhoeve, M J Pelinck, D E S Boks, J Gianotten, F J M Broekmans, M Goddijn, D D M Braat, B W J Mol, R P G M Hermens
STUDY QUESTION: What is the effectiveness of a multifaceted implementation strategy compared to usual care on improving the adherence to guideline recommendations on expectant management for couples with unexplained infertility? SUMMARY ANSWER: The multifaceted implementation strategy did not significantly increase adherence to guideline recommendations on expectant management compared to care as usual. WHAT IS KNOWN ALREADY: Intrauterine insemination (IUI) with or without ovarian hyperstimulation has no beneficial effect compared to no treatment for 6 months after the fertility work-up for couples with unexplained infertility and a good prognosis of natural conception...
June 7, 2017: Human Reproduction
https://www.readbyqxmd.com/read/28591393/the-relationship-between-the-first-world-war-and-neurology-100-years-of-shell-shock
#10
José Luiz Pedroso, Stefanie C Linden, Orlando G Barsottini, Péricles Maranhão, Andrew J Lees
The First World War was a global war, beginning on 28 July 1914, until 11 November 1918. Soon after the beginning of the war, there was an "epidemic" of neurological conversion symptoms. Soldiers on both sides started to present in large numbers with neurological symptoms, such as dizziness, tremor, paraplegia, tinnitus, amnesia, weakness, headache and mutism of psychosomatic origin. This condition was known as shell shock, or "war neurosis". Because medically unexplained symptoms remain a major challenge, and considering the close relationship of symptoms described in shell shock with clinical neurology, we should study their history in order to improve future care...
May 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28589070/agranulocytosis-sequelae-of-chronic-cocaine-use-case-series-and-literature-review
#11
Roma Srivastava, Maira Rizwan, Muhammad Omer Jamil, Palaniandy Kogulan, Donna Salzman
Agranulocytosis is a rare condition with a reported incidence ranging from one to five cases per million population per year. Most commonly, agranulocytosis is secondary to chemotherapeutic agents, however, other medications have also been associated with it. An immune mediated destruction of circulating granulocytes and/or granulocyte precursors secondary to drug-dependent or drug-induced antibodies is the postulated mechanism. Agranulocytosis has also been reported secondary to recreational drug use...
May 3, 2017: Curēus
https://www.readbyqxmd.com/read/28580572/the-impact-of-low-molecular-weight-heparin-on-obstetric-outcomes-among-unexplained-recurrent-miscarriages-complicated-with-methylenetetrahydrofolate-reductase-gene-polymorphism
#12
Orkun Cetin, Erbil Karaman, Numan Cim, Deniz Dirik, Hanim Guler Sahin, Erdal Kara, Ramazan Esen
OBJECTIVES: The association between methylenetetrahydrofolate reductase gene polymorphisms and unexplained recurrent miscarriage is elusive. The recommendations for improving pregnancy outcomes in these patients keep changing based on the available evidence. The aim of this study is to analyze the impact of low molecular weight heparin on obstetric outcomes of recurrent miscarriage patients complicated with methylenetetrahydrofolate reductase gene polymorphism. MATERIAL AND METHODS: We reviewed medical records of 121 patients with a history of recurrent miscarriage complicated by methylenetetrahydrofolate reductase gene polymorphisms, retrospectively...
2017: Ginekologia Polska
https://www.readbyqxmd.com/read/28559634/a-review-of-psychopharmacological-interventions-post-disaster-to-prevent-psychiatric-sequelae
#13
REVIEW
Badari Birur, Suresh Bada Math, Rachel E Fargason
BACKGROUND: Disasters are mega-scale catastrophic events which cause trauma and mental health sequelae. A review of early pharmacological interventions for the prevention of psychiatric disorders following disasters is sorely needed. METHODS: A literature search of "Psychiatric Sequelae AND Disasters", "Disaster mental health/Disaster psychiatry", "Psychotropics AND Disasters", and "Drug therapy AND Disasters" yielded 213 articles, 38 of which were included in the review...
January 26, 2017: Psychopharmacology Bulletin
https://www.readbyqxmd.com/read/28558727/examining-differences-in-cognitive-and-affective-theory-of-mind-between-persons-with-high-and-low-extent-of-somatic-symptoms-an-experimental-study
#14
Mira A Preis, Dennis Golm, Birgit Kröner-Herwig, Antonia Barke
BACKGROUND: Medically unexplained somatic symptoms are common, associated with disability and strongly related to depression and anxiety disorders. One interesting, but to date rarely tested, hypothesis is that deficits in both theory of mind (ToM) and emotional awareness may undergird the phenomenon of somatization. This study sought to investigate whether or not differences in ToM functioning and self-reported emotional awareness are associated with somatic symptoms in a sample from the general population...
May 30, 2017: BMC Psychiatry
https://www.readbyqxmd.com/read/28554831/a-logician-s-approach-to-meta-analysis-with-unexplained-heterogeneity
#15
Martin Adamčík
Meta-analysis is a powerful tool for combining related studies but such an aggregation would be flawed if studies investigated different populations or applied different methods in this investigation. While studies with differences that are statistically detected but not explained can be analysed by techniques of random-effects meta-analysis, it is difficult to analyse a study if it provides us with complex knowledge. This paper introduces a new method for meta-analysis that deals with both complex knowledge and unexplained heterogeneity, and which shares some properties with Bayesian methods...
May 26, 2017: Journal of Biomedical Informatics
https://www.readbyqxmd.com/read/28554378/high-healthcare-utilization-near-the-onset-of-medically-unexplained-symptoms
#16
Lisa M McAndrew, L Alison Phillips, Drew A Helmer, Kieran Maestro, Charles C Engel, Lauren M Greenberg, Nicole Anastasides, Karen S Quigley
OBJECTIVE: Patients with medically unexplained syndromes (MUS) often do not receive appropriate healthcare. A critical time for effective healthcare is the inception of MUS. The current study examined data from a prospective longitudinal study of Operation Enduring Freedom/Operation Iraqi Freedom (OEF/OIF) soldiers to understand the relationship of increasing physical symptom burden to healthcare utilization. METHODS: Data was examined from a prospective study of OEF/OIF soldiers assessed before and one year after deployment (n=336)...
July 2017: Journal of Psychosomatic Research
https://www.readbyqxmd.com/read/28550023/the-super-study-protocol-for-a-randomised-controlled-trial-comparing-follicle-stimulating-hormone-and-clomiphene-citrate-for-ovarian-stimulation-in-intrauterine-insemination
#17
N A Danhof, M van Wely, Cam Koks, J Gianotten, J P de Bruin, B J Cohlen, D P van der Ham, N F Klijn, Mha van Hooff, Fjm Broekmans, K Fleischer, Cah Janssen, J M Rijn van Weert, J van Disseldorp, M Twisk, M Traas, Mfg Verberg, M J Pelinck, J Visser, Dam Perquin, DES Boks, H R Verhoeve, C F van Heteren, Bwj Mol, S Repping, F van der Veen, M H Mochtar
OBJECTIVE: To study the effectiveness of four cycles of intrauterine insemination (IUI) with ovarian stimulation (OS) by follicle-stimulating hormone (FSH) or by clomiphene citrate (CC), and adherence to strict cancellation criteria. SETTING: Randomised controlled trial among 22 secondary and tertiary fertility clinics in the Netherlands. PARTICIPANTS: 732 women from couples diagnosed with unexplained or mild male subfertility and an unfavourable prognosis according to the model of Hunault of natural conception...
May 25, 2017: BMJ Open
https://www.readbyqxmd.com/read/28545580/early-response-in-cognitive-behavior-therapy-for-syndromes-of-medically-unexplained-symptoms
#18
Maria Kleinstäuber, Michael J Lambert, Wolfgang Hiller
BACKGROUND: Early dramatic treatment response suggests a subset of patients who respond to treatment before most of it has been offered. These early responders tend to be over represented among those who are well at termination and at follow-up. Early response patterns in psychotherapy have been investigated only for a few of mental disorders so far. The main aim of the current study was to examine early response after five therapy-preparing sessions of a cognitive behavior therapy (CBT) for syndromes of medically unexplained symptoms (MUS)...
May 25, 2017: BMC Psychiatry
https://www.readbyqxmd.com/read/28541648/expert-consensus-survey-on-medication-adherence-in-psychiatric-patients-and-use-of-a-digital-medicine-system
#19
Ainslie Hatch, John P Docherty, Daniel Carpenter, Ruth Ross, Peter J Weiden
BACKGROUND: There is an unmet need to objectively assess adherence problems that are a common cause of unexplained or unexpected suboptimal outcome. A digital medicine system (DMS) has been developed to address this need in patients with serious mental illness. OBJECTIVE: To conduct a quantitative expert consensus survey to (1) assess relative importance of causes of suboptimal outcomes, (2) examine modalities used to assess adherence, (3) provide guidance on when and how to use the DMS in clinical practice once available, and (4) suggest interventions for specific reasons for nonadherence...
May 23, 2017: Journal of Clinical Psychiatry
https://www.readbyqxmd.com/read/28539036/a-case-of-tuberculous-peritonitis-presenting-as-small-bowel-obstruction
#20
Hae Koo Kim, Sung Eun Kim, Moo In Park, Seun Ja Park, Won Moon, Jae Hyun Kim, Kyoungwon Jung, Yong Jin Nam
The peritoneum is one of the common extrapulmonary sites of tuberculosis infection. Patients with underlying end-stage renal or liver disease are frequently complicated by tuberculous peritonitis; however, the diagnosis of the tuberculous peritonitis is difficult due to its insidious nature, well as its variability in presentation and limitation of available diagnostic tests. Once diagnosed, the preferred treatment is usually antituberculous therapy in uncomplicated cases. However, surgical treatment may also be required for complicated cases, such as small bowel obstruction or perforation...
May 25, 2017: Korean Journal of Gastroenterology, Taehan Sohwagi Hakhoe Chi
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