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https://www.readbyqxmd.com/read/28811188/familial-1p36-3-microduplication-resulting-from-a-1p-9q-non-reciprocal-translocation
#1
Valentine Marquet, Sylvie Bourthoumieu, Amelia Dobrescu, Cécile Laroche-Raynaud, Catherine Yardin
Unlike the 1p36 microdeletion syndrome, which has been extensively described, 1p36 microduplications have rarely been reported. We describe a three years old boy presenting with a severe global developmental delay and a few dysmorphic features. Cytogenetic analyses revealed a maternally inherited 3.35 Mb microduplication of chromosomal band 1p36.3. The maternal grand-father is also carrier of the same chromosomal rearrangement. Interestingly, the duplicated 1p36.3 segment was found to be localized at the telomeric end of the long arms of a chromosome 9, probably deriving from a 1p36...
August 12, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28810911/outcomes-from-patients-with-presumed-drug-resistant-tuberculosis-in-five-reference-centers-in-brazil
#2
D M P Ramalho, P F C Miranda, M K Andrade, T Brígido, M P Dalcolmo, E Mesquita, C F Dias, A N Gambirasio, J Ueleres Braga, A Detjen, P P J Phillips, I Langley, P I Fujiwara, S B Squire, M M Oliveira, A L Kritski
BACKGROUND: The implementation of rapid drug susceptibility testing (DST) is a current global priority for TB control. However, data are scarce on patient-relevant outcomes for presumptive diagnosis of drug-resistant tuberculosis (pDR-TB) evaluated under field conditions in high burden countries. METHODS: Observational study of pDR-TB patients referred by primary and secondary health units. TB reference centers addressing DR-TB in five cities in Brazil. Patients age 18 years and older were eligible if pDR-TB, culture positive results for Mycobacterium tuberculosis and, if no prior DST results from another laboratory were used by a physician to start anti-TB treatment...
August 15, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28808298/standards-for-arsenic-in-drinking-water-implications-for-policy-in-mexico
#3
Andrew T Fisher, Lizbeth López-Carrillo, Brenda Gamboa-Loira, Mariano E Cebrián
Global concern about arsenic in drinking water and its link to numerous diseases make translation of evidence-based research into national policy a priority. Delays in establishing a maximum contaminant level (MCL) to preserve health have increased the burden of disease and caused substantial and avoidable loss of life. The current Mexican MCL for arsenic in drinking water is 25 μg/l (2.5 times higher than the World Health Organization (WHO) recommendation from 1993). Mexico's struggles to set its arsenic MCL offer a compelling example of shortcomings in environmental health policy...
August 14, 2017: Journal of Public Health Policy
https://www.readbyqxmd.com/read/28808075/symptom-response-to-antibiotic-prescribing-strategies-in-acute-sore-throat-in-adults-the-descarte-prospective-cohort-study-in-uk-general-practice
#4
Michael Moore, Beth Stuart, Fd Richard Hobbs, Chris C Butler, Alastair D Hay, John Campbell, Brendan C Delaney, Sue Broomfield, Paula Barratt, Kerenza Hood, Hazel A Everitt, Mark Mullee, Ian Williamson, David Mant, Paul Little
BACKGROUND: A delayed or 'just in case' prescription has been identified as having potential to reduce antibiotic use in sore throat. AIM: To determine the symptomatic outcome of acute sore throat in adults according to antibiotic prescription strategy in routine care. DESIGN AND SETTING: A secondary analysis of the DESCARTE (Decision rule for the Symptoms and Complications of Acute Red Throat in Everyday practice) prospective cohort study comprising adults aged ≥16 years presenting with acute sore throat (≤2 weeks' duration) managed with treatment as usual in primary care in the UK...
August 14, 2017: British Journal of General Practice: the Journal of the Royal College of General Practitioners
https://www.readbyqxmd.com/read/28807008/phenotypic-and-molecular-characterisation-of-cdk13-related-congenital-heart-defects-dysmorphic-facial-features-and-intellectual-developmental-disorders
#5
Bret L Bostwick, Scott McLean, Jennifer E Posey, Haley E Streff, Karen W Gripp, Alyssa Blesson, Nina Powell-Hamilton, Jessica Tusi, David A Stevenson, Ellyn Farrelly, Louanne Hudgins, Yaping Yang, Fan Xia, Xia Wang, Pengfei Liu, Magdalena Walkiewicz, Marianne McGuire, Dorothy K Grange, Marisa V Andrews, Marybeth Hummel, Suneeta Madan-Khetarpal, Elena Infante, Zeynep Coban-Akdemir, Karol Miszalski-Jamka, John L Jefferies, Jill A Rosenfeld, Lisa Emrick, Kimberly M Nugent, James R Lupski, John W Belmont, Brendan Lee, Seema R Lalani
BACKGROUND: De novo missense variants in CDK13 have been described as the cause of syndromic congenital heart defects in seven individuals ascertained from a large congenital cardiovascular malformations cohort. We aimed to further define the phenotypic and molecular spectrum of this newly described disorder. METHODS: To minimise ascertainment bias, we recruited nine additional individuals with CDK13 pathogenic variants from clinical and research exome laboratory sequencing cohorts...
August 14, 2017: Genome Medicine
https://www.readbyqxmd.com/read/28805667/the-effect-of-a-standardized-ginger-extract-on-chemotherapy-induced-nausea-related-quality-of-life-in-patients-undergoing-moderately-or-highly-emetogenic-chemotherapy-a-double-blind-randomized-placebo-controlled-trial
#6
Wolfgang Marx, Alexandra L McCarthy, Karin Ried, Dan McKavanagh, Luis Vitetta, Avni Sali, Anna Lohning, Elisabeth Isenring
Ginger supplementation could be an effective adjuvant treatment for chemotherapy-induced nausea (CIN). The aim of this clinical trial was to address significant methodological limitations in previous trials. Patients (N = 51) were randomly allocated to receive either 1.2 g of standardised ginger extract or placebo per day, in addition to standard anti-emetic therapy, during the first three cycles of chemotherapy. The primary outcome was CIN-related quality of life (QoL) measured with the Functional Living Index- Emesis (FLIE) questionnaire...
August 12, 2017: Nutrients
https://www.readbyqxmd.com/read/28799002/intolerance-and-violence-against-doctors
#7
REVIEW
Meharban Singh
Intolerance and grouse against doctors is a global phenomenon but India seems to lead the world in violence against doctors. According to World Health Organization, about 8-38% healthcare workers suffer physical violence at some point in their careers. Many more are verbally abused or threatened. Public is almost behaving like health sector terrorists. The spate of increasing attacks on doctors by damaging their property and causing physical injury is not acceptable by any civilized society. The public is becoming increasingly intolerant to a large number of social issues because of poor governance and vote bank politics...
August 11, 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/28796794/factors-associated-with-stunting-in-healthy-children-aged-5-years-and-less-living-in-bangui-rca
#8
Pascale Vonaesch, Laura Tondeur, Sébastien Breurec, Petula Bata, Liem Binh Luong Nguyen, Thierry Frank, Alain Farra, Clotaire Rafaï, Tamara Giles-Vernick, Jean Chrysostome Gody, Ionela Gouandjika-Vasilache, Philippe Sansonetti, Muriel Vray
Stunting remains a major public health concern worldwide. Although its global prevalence is slowly decreasing, the actual number of affected children is still rising in Sub-Saharan Africa. In the Central African Republic (CAR), about one third of all children below the age of five are stunted. Stunting is correlated with many long-term consequences, including poor cognitive development and a higher rate of morbidity and mortality, making stunting a major contributor to poverty. In CAR, little is known about the factors that contribute to stunting...
2017: PloS One
https://www.readbyqxmd.com/read/28794914/hyperphosphatasia-with-mental-retardation-syndrome-due-to-a-novel-mutation-in-pgap3
#9
Sheela Nampoothiri, Malavika Hebbar, Arun Grace Roy, Sheena P Kochumon, Stephanie Bielas, Anju Shukla, Katta M Girisha
Hyperphosphatasia with mental retardation syndrome is a heterogeneous genetic condition. Two siblings aged 5 years and 3 years were evaluated for global development delay and facial dysmorphism. A novel missense variant, c.851A>G (p.H284R, NM_033419.3), in PGAP3 was identified using whole-exome sequencing. Assays for elevated alkaline phosphatase and exome sequencing can be useful for the diagnosis of hyperphosphatasia with mental retardation syndrome.
September 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28790833/collaboration-in-pharmacovigilance-lamotrigine-and-fatal-severe-cutaneous-adverse-reactions-a-review-of-spontaneous-reports
#10
Neil Brickel, Haris Shaikh, Andrew Kirkham, Greg Davies, Michelle Chalker, Pascal Yoshida
Pharmacovigilance presents many challenges, particularly when managing unpredictable, rare conditions, eg, severe cutaneous adverse reactions (SCARs). Such rare events are often only detected from spontaneous reports, which present their own limitations, particularly during a prolonged global launch schedule. GlaxoSmithKline's routine pharmacovigilance includes regular reviews of global adverse event (AE) reports and aggregate data from a central safety database. Lamotrigine is one of the several antiepileptic drugs associated with SCARs...
2017: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/28783716/a-viscoelastic-model-for-the-prediction-of-transcranial-ultrasound-propagation-application-for-the-estimation-of-shear-acoustic-properties-in-the-human-skull
#11
Samuel Pichardo, Carlos Moreno-Hernández, Robert Andrew Drainville, Vivian Sin, Laura Curiel, Kullervo Hynynen
A better understanding of ultrasound transmission through the human skull is fundamental to develop optimal imaging and therapeutic applications. In this study, we present global attenuation values and functions that correlate apparent density calculated from computed tomography scans to shear speed of sound. For this purpose, we used a model for sound propagation based on the viscoelastic wave equation (VWE) assuming isotropic conditions. The model was validated using a series of measurements with plates of different plastic materials and angles of incidence of 0°, 15° and 50°...
August 7, 2017: Physics in Medicine and Biology
https://www.readbyqxmd.com/read/28777720/delay-differential-analysis-of-seizures-in-multichannel-electrocorticography-data
#12
Claudia Lainscsek, Jonathan Weyhenmeyer, Sydney S Cash, Terrence J Sejnowski
High-density electrocorticogram (ECoG) electrodes are capable of recording neurophysiological data with high temporal resolution with wide spatial coverage. These recordings are a window to understanding how the human brain processes information and subsequently behaves in healthy and pathologic states. Here, we describe and implement delay differential analysis (DDA) for the characterization of ECoG data obtained from human patients with intractable epilepsy. DDA is a time-domain analysis framework based on embedding theory in nonlinear dynamics that reveals the nonlinear invariant properties of an unknown dynamical system...
August 4, 2017: Neural Computation
https://www.readbyqxmd.com/read/28774175/monitoring-effect-of-so2-emission-abatement-on-recovery-of-acidified-soil-and-stream-water-in-southwest-china
#13
Qian Yu, Ting Zhang, Xiaoxiao Ma, Ronghua Kang, Jan Mulder, Thorjørn Larssen, Lei Duan
Following Europe and North America, East Asia has become a global hotspot of acid deposition, with very high deposition of both sulfur (S) and nitrogen (N) occurring in large areas in southwest and southeast China. Great efforts have been made in reducing national emission of sulfur dioxide (SO2) since 2006 in China. However, the total emission of nitrogen oxides (NOx) continued to increase until 2011. In order to evaluate the effects of SO2 and NOx emission abatement on acid deposition and acidification of soil and water, we monitored the chemical composition of throughfall, soil water, and stream water from 2001 to 2013 in a small, forested catchment near Chongqing city in Southwestern China...
August 3, 2017: Environmental Science & Technology
https://www.readbyqxmd.com/read/28768841/association-of-parathyroid-hormone-with-20-year-cognitive-decline-the-aric-study
#14
Samuel M Kim, Di Zhao, Andrea L C Schneider, Sai Krishna Korada, Pamela L Lutsey, Eliseo Guallar, Alvaro Alonso, B Gwen Windham, Rebecca F Gottesman, Erin D Michos
OBJECTIVE: We hypothesized that elevated parathyroid hormone (PTH) levels will be independently associated with 20-year cognitive decline in a large population-based cohort. METHODS: We studied 12,964 middle-aged white and black ARIC participants without a history of prior stroke who, in 1990-1992 (baseline), had serum PTH levels measured and cognitive function testing, with repeat cognitive testing performed at up to 2 follow-up visits. Cognitive testing included the Delayed Word Recall, the Digit Symbol Substitution, and the Word Fluency tests, which were summed as a global Z score...
August 2, 2017: Neurology
https://www.readbyqxmd.com/read/28767035/neuropsychological-outcome-in-perinatal-stroke-associated-with-epileptiform-discharges-in-sleep
#15
Aleksandra Mineyko, Wei Qi, Helen L Carlson, Luis Bello-Espinosa, Brian L Brooks, Adam Kirton
BACKGROUND: Patients with arterial perinatal stroke often suffer long-term motor sequelae, difficulties in language, social development, and behaviour as well as epilepsy. Despite homogeneous lesions, long-term behavioural and cognitive outcomes are variable and unpredictable. Sleep-related epileptic encephalopathies can occur after early brain injury and are associated with global developmental delays. We hypothesized that sleep-potentiated epileptiform abnormalities are associated with worse developmental outcomes after perinatal stroke...
July 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/28764873/automatic-detection-of-surgical-haemorrhage-using-computer-vision
#16
Alvaro Garcia-Martinez, Jose María Vicente-Samper, José María Sabater-Navarro
BACKGROUND AND OBJECTIVES: On occasions, a surgical intervention can be associated with serious, potentially life-threatening complications. One of these complications is a haemorrhage during the operation, an unsolved issue that could delay the intervention or even cause the patient's death. On laparoscopic surgery this complication is even more dangerous, due to the limited vision and mobility imposed by the minimally invasive techniques. METHODS: In this paper it is described a computer vision algorithm designed to analyse the images captured by a laparoscopic camera, classifying the pixels of each frame in blood pixels and background pixels and finally detecting a massive haemorrhage...
May 2017: Artificial Intelligence in Medicine
https://www.readbyqxmd.com/read/28761556/synchronization-of-generalized-reaction-diffusion-neural-networks-with-time-varying-delays-based-on-general-integral-inequalities-and-sampled-data-control-approach
#17
S Dharani, R Rakkiyappan, Jinde Cao, Ahmed Alsaedi
This paper explores the problem of synchronization of a class of generalized reaction-diffusion neural networks with mixed time-varying delays. The mixed time-varying delays under consideration comprise of both discrete and distributed delays. Due to the development and merits of digital controllers, sampled-data control is a natural choice to establish synchronization in continuous-time systems. Using a newly introduced integral inequality, less conservative synchronization criteria that assure the global asymptotic synchronization of the considered generalized reaction-diffusion neural network and mixed delays are established in terms of linear matrix inequalities (LMIs)...
August 2017: Cognitive Neurodynamics
https://www.readbyqxmd.com/read/28760403/health-related-quality-of-life-for-immediate-versus-delayed-androgen-deprivation-therapy-in-patients-with-asymptomatic-non-curable-prostate-cancer-trog-03-06-and-vcog-pr-01-03-toad-a-randomised-multicentre-non-blinded-phase-3-trial
#18
Gillian M Duchesne, Henry H Woo, Madeleine King, Steven J Bowe, Martin R Stockler, Alice Ames, Catherine D'Este, Mark Frydenberg, Andrew Loblaw, Shawn Malone, Jeremy Millar, Keen Hun Tai, Sandra Turner
BACKGROUND: Androgen-deprivation therapy in patients with prostate cancer who have relapsed with rising prostate-specific antigen concentration only (PSA-only relapse), or with non-curable but asymptomatic disease at diagnosis, could adversely affect quality of life at a time when the disease itself does not. We aimed to compare the effect of immediate versus delayed androgen-deprivation therapy on health-related quality of life over 5 years in men enrolled in the TOAD (Timing of Androgen Deprivation) trial...
July 28, 2017: Lancet Oncology
https://www.readbyqxmd.com/read/28758375/all-bereaved-parents-are-entitled-to-good-care-after-stillbirth-a-mixed-methods-multicentre-study-insight
#19
D Siassakos, S Jackson, K Gleeson, C Chebsey, A Ellis, C Storey
OBJECTIVE: To understand challenges in care after stillbirth and provide tailored solutions. DESIGN: Multi-centre case study. SETTING: Three maternity hospitals. POPULATION: Parents with a stillborn baby, maternity staff. METHODS: Thematic analysis of parent interviews and staff focus groups and service provision investigation. OUTCOMES: 1 Themes; 2 Triangulation matrix; 3 Recommendations...
July 31, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28757769/the-borderland-between-normal-aging-and-dementia
#20
REVIEW
Raymond Y Lo
Alzheimer's disease (AD) has become a global health issue as the population ages. There is no effective treatment to protect against its occurrence or progression. Some argue that the lack of treatment response is due to delays in diagnosis. By the time a diagnosis of AD is made, neurodegenerative changes are at the stage where very few neurons can be salvaged by medication. The AD research community has developed the idea of mild cognitive impairment (MCI) in an attempt to find predementia patients who might benefit from potentially therapeutic drugs that have proven ineffective in the past...
April 2017: Ci Ji Yi Xue za Zhi, Tzu-chi Medical Journal
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