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https://www.readbyqxmd.com/read/28345786/a-de-novo-nonsense-mutation-in-zbtb18-plus-a-de-novo-15q13-3-microdeletion-in-a-6-year-old-female
#1
Nadja Ehmke, Sylvio Karge, Johannes Buchmann, Dirk Korinth, Denise Horn, Olaf Reis, Frank Häßler
ZBTB18 has been proposed as candidate gene for microcephaly and abnormalities of the corpus callosum based on overlapping microdeletions of 1q43q44. More recently, de novo mutations of ZBTB18 have been identified in patients with syndromic and non-syndromic intellectual disability. Heterozygous microdeletions of 15q13.3 encompassing the candidate gene CHRNA7 are associated with developmental delay or intellectual disability with speech problems, hypotonia, and seizures. They are characterized by significant variability and reduced penetrance...
March 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28344965/tuberculous-peritonitis-in-the-first-trimester-of-pregnancy
#2
Sukyung Jung, Nae Ri Yun, Jeong Ok Kim, Jeong Hoon Lee, Ho Yeon Kim, Eunseop Song, Byoung Ick Lee, Sung Ook Hwang, Soo Ran Choi
Tuberculous peritonitis in pregnancy is a rare form of extrapulmonary tuberculosis that is not easily diagnosed. The clinical presentations of tuberculous peritonitis are usually non-specific and mimic those of other diseases, such as ovarian malignancy or chronic liver disease, and this non-specificity can cause diagnostic delays and complications. The authors report the case of a 31-year-old primigravida woman who presented with uncontrolled fever, dyspnea, elevated liver enzymes, and mild abdominal distension at 13+2 weeks of gestation...
March 2017: Obstetrics & Gynecology Science
https://www.readbyqxmd.com/read/28343847/global-developmental-delay-and-intellectual-disability-associated-with-a-de-novo-top2b-mutation
#3
Ching-Wan Lam, Wai-Lan Yeung, Chun-Yiu Law
BACKGROUND: More than 100 genes had been identified for autism spectrum disorder (ASD). With the advancement of whole-exome/genome sequencing (WES/WGS), disease-causing gene in ASD can be identified in a holistic and unbiased approach. The identification of new ASD genes can further explore the molecular basis of ASD. METHODS: We report a 15yo girl with developmental delay, intellectual disability, hypotonia, microcephaly and autistic feature. She first presented at 6months old with primitive response to noise...
March 23, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28342095/-advances-in-diagnostic-microbiology-opportunities-and-limitations
#4
F P Maurer, M Hentschke, H Rohde
In the light of ever increasing problems related to the emergence of multidrug-resistant bacteria, rapid microbiological diagnostics are of growing importance. Timely pathogen detection and availability of susceptibility data are essential for optimal treatment, but are even more crucial for de-escalation of broad spectrum empiric therapies. Medical microbiology is, thus, an integral part of antimicrobial stewardship programs. Traditional microbiological techniques for species identification and susceptibility testing rely on bacterial growth and are, thus, characterized by inherent slowness...
March 24, 2017: Medizinische Klinik, Intensivmedizin und Notfallmedizin
https://www.readbyqxmd.com/read/28341900/tumor-induced-osteomalacia-experience-from-a-south-american-academic-center
#5
G González, R Baudrand, M F Sepúlveda, N Vucetich, F J Guarda, P Villanueva, O Contreras, A Villa, F Salech, L Toro, L Michea, P Florenzano
The majority of tumor-induced osteomalacia cases have been reported in the Northern Hemisphere and Asia. In this first series of South American patients, we show that the clinical presentation and sensitivity of plasmatic fibroblast growth factor 23 and somatostatin analog-based imaging are similar to those described in other populations. INTRODUCTION: Describe the experience of clinical presentation, diagnostic study, and treatment of patients with tumor-induced osteomalacia (TIO) in a South American academic center in comparison to literature...
March 25, 2017: Osteoporosis International
https://www.readbyqxmd.com/read/28341756/distress-disease-desire-perspectives-on-the-medicalisation-of-premature-ejaculation
#6
Ylva Söderfeldt, Adam Droppe, Tim Ohnhäuser
The discovery that certain selective serotonin reuptake inhibitors delay ejaculation and the later development and approval of dapoxetine as an on-demand treatment option has led to a dramatic increase in medical interest in premature ejaculation. This paper analyses the diagnostic criteria and the discussion within the medical community about suitable treatments against the backdrop of theories of science, sex and gender. Our conclusion is that the diagnosis itself and the suggested treatments contribute to normative models of sexual conduct and therefore reinforce the norms that cause patients' distress over ejaculating 'too soon'...
March 23, 2017: Journal of Medical Ethics
https://www.readbyqxmd.com/read/28339403/dopamine-transporter-imaging-has-no-impact-on-functional-outcomes-in-de-novo-probable-parkinson-s-disease
#7
Patrick T Hickey, Maragatha Kuchibhatla, Burton Scott, Lisa Gauger, Mark A Stacy
BACKGROUND: Parkinson's disease (PD) is among the most prevalent neurodegenerative conditions. While motor and non-motor aspects of this disease have been well characterized, no objective biomarker exists to support an accurate clinical diagnosis. However, newer imaging techniques, including [123I]-FP-CIT (DaTSCAN), have demonstrated utility in differentiating between PD and non-neurodegenerative tremor disorders. OBJECTIVE: DaTSCAN has been primarily investigated in situations where diagnostic confusion exists, and in these instances has been shown to significantly impact clinical management...
March 20, 2017: Journal of Parkinson's Disease
https://www.readbyqxmd.com/read/28339140/acquisition-of-voice-onset-time-in-toddlers-at-high-and-low-risk-for-autism-spectrum-disorder
#8
Karen Chenausky, Helen Tager-Flusberg
Although language delay is common in autism spectrum disorder (ASD), research is equivocal on whether speech development is affected. We used acoustic methods to investigate the existence of sub-perceptual differences in the speech of toddlers who developed ASD. Development of the distinction between b and p was prospectively tracked in 22 toddlers at low risk for ASD (LRC), 22 at high risk for ASD without ASD (HRA-), and 11 at high risk for ASD who were diagnosed with ASD at 36 months (HRA+). Voice onset time (VOT), the main acoustic difference between b and p, was measured from spontaneously produced words at 18, 24, and 36 months...
March 24, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28337826/diagnostic-outcome-of-contrast-videofluoroscopic-swallowing-studies-in-216-dysphagic-dogs
#9
Rachel E Pollard, Stanley L Marks, Diane M Cheney, Cecily M Bonadio
Determining the anatomic and functional origin for dysphagia is critical for development of an appropriate therapeutic plan and determination of the prognosis. The purpose of this retrospective study was to report the quantitative and qualitative outcome of contrast videofluoroscopic swallowing studies in a large cohort of dysphagic dogs presenting to a tertiary veterinary care hospital. The videofluoroscopic swallowing studies were reviewed to generate values for pharyngeal constriction ratio, timing of swallowing events (maximum pharyngeal contraction, opening of upper esophageal sphincter, closing of upper esophageal sphincter, and reopening of epiglottis), type of esophageal peristalsis generated, and esophageal transit time...
March 23, 2017: Veterinary Radiology & Ultrasound
https://www.readbyqxmd.com/read/28335816/diagnostic-delay-and-associated-factors-among-patients-with-pulmonary-tuberculosis-in-dar-es-salaam-tanzania
#10
Khadija Said, Jerry Hella, Grace Mhalu, Mary Chiryankubi, Edward Masika, Thomas Maroa, Francis Mhimbira, Neema Kapalata, Lukas Fenner
BACKGROUND: Tanzania is among the 30 countries with the highest tuberculosis (TB) burdens. Because TB has a long infectious period, early diagnosis is not only important for reducing transmission, but also for improving treatment outcomes. We assessed diagnostic delay and associated factors among infectious TB patients. METHODS: We interviewed new smear-positive adult pulmonary TB patients enrolled in an ongoing TB cohort study in Dar es Salaam, Tanzania, between November 2013 and June 2015...
March 24, 2017: Infectious Diseases of Poverty
https://www.readbyqxmd.com/read/28334777/clinicians-interpretations-of-point-of-care-urine-culture-versus-laboratory-culture-results-analysis-from-the-four-country-poetic-trial-of-diagnosis-of-uncomplicated-urinary-tract-infection-in-primary-care
#11
Saskia Hullegie, Mandy Wootton, Theo J M Verheij, Emma Thomas-Jones, Janine Bates, Kerenza Hood, Micaela Gal, Nick A Francis, Paul Little, Michael Moore, Carl Llor, Timothy Pickles, David Gillespie, Nigel Kirby, Curt Brugman, Christopher C Butler
Background.: Urine culture at the point of care minimises delay between obtaining the sample and agar inoculation in a microbiology laboratory, and quantification and sensitivity results can be available more rapidly in primary care. Objective.: To identify the degree to which clinicians' interpretations of a point-of-care-test (POCT) urine culture (Flexicult™ SSI-Urinary Kit) agrees with laboratory culture in women presenting to primary care with symptoms of uncomplicated urinary tract infections (UTI)...
March 1, 2017: Family Practice
https://www.readbyqxmd.com/read/28334584/delayed-workup-of-rectal-bleeding-in-adult-primary-care-examining-process-of-care-failures
#12
Saul N Weingart, Elena M Stoffel, Daniel C Chung, Thomas D Sequist, Ruth I Lederman, Stephen R Pelletier, Helen M Shields
BACKGROUND: Although delayed colorectal cancer diagnoses figure prominently in medical malpractice claims, little is known about the quality of primary care clinicians' workup of rectal bleeding. METHODS: In this study, 438 patients were identified using International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) codes for rectal bleeding, hemorrhoids, and blood in the stool at 10 Boston adult primary care practices. Following nurse chart abstraction, physician reviewers assessed the overall quality of care and key care processes...
January 2017: Joint Commission Journal on Quality and Patient Safety
https://www.readbyqxmd.com/read/28334543/-functional-impact-of-herg-from-physiological-role-to-target-of-anticancer-therapy
#13
Júlia Šatková, Markéta Bébarová
The human ether-à-go-go related gene (hERG; officially designated as KCNH2) encodes the structure of protein forming α-subunit of voltage-gated ion channel which conducts the rapid component of delayed rectifier K+ current (IKr). This current plays an important role namely in the cardiac repolarization. Mutations in hERG result in inherited arrhythmogenic syndromes characterized by a lenghtening or shortening of QT interval on the electrocardiogram and by an increased occurrence of life-threatening arrhythmias...
2017: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/28333328/the-time-course-of-diagnostic-delay-in-inflammatory-bowel-disease-over-the-last-sixty-years-an-italian-multicentre-study
#14
Laura Cantoro, Antonio Di Sabatino, Claudio Papi, Giovanna Margagnoni, Sandro Ardizzone, Paolo Giuffrida, Diana Giannarelli, Alessandro Massari, Rita Monterubbianesi, Marco Vincenzo Lenti, Gino Roberto Corazza, Anna Kohn
Background and Aims: Inflammatory bowel disease (IBD) patients are still under-diagnosed or diagnosed with serious delay. We examined whether diagnostic delay (DD) in IBD has changed over the last 60 years, and explored the risk factors of longer DD. Methods: 3392 IBD patients recorded in the registry of four IBD Italian centres were divided according to the year of diagnosis into a historical cohort (HC: 1955-1984) and modern cohort (MC: 1985-2014). DD, i.e. time lapse between onset of symptoms indicative of IBD and definitive diagnosis, was divided into four sub-periods (0-6, 7-12, 13-24, >24 months) which were correlated with age and disease location/behaviour at diagnosis...
March 17, 2017: Journal of Crohn's & Colitis
https://www.readbyqxmd.com/read/28332224/monitoring-and-regulation-of-learning-in-medical-education-the-need-for-predictive-cues
#15
Anique B H de Bruin, John Dunlosky, Rodrigo B Cavalcanti
CONTEXT: Being able to accurately monitor learning activities is a key element in self-regulated learning in all settings, including medical schools. Yet students' ability to monitor their progress is often limited, leading to inefficient use of study time. Interventions that improve the accuracy of students' monitoring can optimise self-regulated learning, leading to higher achievement. This paper reviews findings from cognitive psychology and explores potential applications in medical education, as well as areas for future research...
March 23, 2017: Medical Education
https://www.readbyqxmd.com/read/28330688/management-of-spontaneous-pneumomediastinum-are-hospitalization-and-prophylactic-antibiotics-needed
#16
Masatomo Ebina, Akira Inoue, Akihiro Takaba, Koichi Ariyoshi
BACKGROUND: Spontaneous pneumomediastinum is defined as the presence of free air in the mediastinum without any apparent concomitant factors or disease. It is uncommon but usually benign and self-limiting. Generally, patients with spontaneous pneumomediastinum are admitted to hospital, and occasionally, prophylactic antibiotics are administered to prevent mediastinitis. The purpose of this study was to describe practices concerning the feasibility of outpatient treatment and follow-up of spontaneous pneumomediastinum and the necessity of prophylactic antibiotics...
March 10, 2017: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28329108/increased-mortality-among-persons-with-chronic-hepatitis-c-with-moderate-or-severe-liver-disease-a-cohort-study
#17
Javier A Cepeda, David L Thomas, Jacquie Astemborski, Mark S Sulkowski, Gregory D Kirk, Shruti H Mehta
Background: Despite the availability of curative treatment for hepatitis C virus (HCV) infection, because of cost, treatment is often denied until liver fibrosis has progressed to at least moderate fibrosis and in some cases cirrhosis. That practice is justified on assumptions that there are no medical consequences to having moderate disease and that disease stage transitions can be anticipated. Methods: We performed transient elastography on 964 people chronically infected with HCV with a history of injection drug use living in Baltimore, Maryland...
March 10, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/28326433/application-of-electronic-algorithms-to-improve-diagnostic-evaluation-for-bladder-cancer
#18
Daniel R Murphy, Ashley N D Meyer, Viralkumar Vaghani, Elise Russo, Dean F Sittig, Kyle A Richards, Li Wei, Louis Wu, Hardeep Singh
BACKGROUND: Strategies to ensure timely diagnostic evaluation of hematuria are needed to reduce delays in bladder cancer diagnosis. OBJECTIVE: To evaluate the performance of electronic trigger algorithms to detect delays in hematuria follow-up. METHODS: We developed a computerized trigger to detect delayed follow-up action on a urinalysis result with high-grade hematuria (>50 red blood cells/high powered field). The trigger scanned clinical data within a Department of Veterans Affairs (VA) national data repository to identify all patient records with hematuria, then excluded those where follow-up was unnecessary (e...
March 22, 2017: Applied Clinical Informatics
https://www.readbyqxmd.com/read/28325813/aging-effects-of-caenorhabditis-elegans-ryanodine-receptor-variants-corresponding-to-human-myopathic-mutations
#19
Katie Nicoll Baines, Célia Ferreira, Philip M Hopkins, Marie-Anne Shaw, Ian A Hope
Delaying the decline in skeletal muscle function will be critical to better maintenance of an active life-style in old age. The skeletal muscle ryanodine receptor, the major intracellular membrane channel through which calcium ions pass to elicit muscle contraction, is central to calcium ion balance, and is hypothesized to be a significant factor for age-related decline in muscle function. The nematode Caenorhabditis elegans is a key model system for the study of human aging and strains with modified C. elegans ryanodine receptors corresponding to human myopathic variants linked with malignant hyperthermia and related conditions were generated...
March 21, 2017: G3: Genes—Genomes—Genetics
https://www.readbyqxmd.com/read/28324009/whole-exome-sequencing-for-diagnosis-of-turner-syndrome-towards-next-generation-sequencing-and-newborn-screening
#20
David R Murdock, Frank X Donovan, Settara C Chandrasekharappa, Nicole Banks, Carolyn Bondy, Maximilian Muenke, Paul Kruszka
Context, Objectives: Turner syndrome (TS) is due to a complete or partial loss of an X chromosome in females and is not currently part of newborn screening. Diagnosis is often delayed resulting in missed crucial diagnostic and therapeutic opportunities. This study sought to determine if whole-exome sequencing (WES) as part of a potential newborn screening program could be used to diagnose TS. Design, Setting, Patients: Karyotype, chromosomal microarray, and WES were performed on women with TS (n=27) enrolled in the Personalized Genomic Research study at the National Institutes of Health...
January 24, 2017: Journal of Clinical Endocrinology and Metabolism
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