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syndrome west

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https://www.readbyqxmd.com/read/29791932/b3galnt2-related-dystroglycanopathy-expansion-of-the-phenotype-with-novel-mutation-associated-with-muscle-eye-brain-disease-walker-warburg-syndrome-epileptic-encephalopathy-west-syndrome-and-sensorineural-hearing-loss
#1
Muna A Al Dhaibani, Ayman W El-Hattab, Omar Ismayl, Jehan Suleiman
Mutations in B3GALNT2 , encoding a glycosyltransferase enzyme involved in α-dystroglycan glycosylation, have been recently associated with dystroglycanopathy, a well-recognized subtype of congenital muscular dystrophy (CMD). Only a few cases have been reported with B3GALNT2 -related dystroglycanopathy with variable severity ranging from mild CMD to severe muscle-eye-brain disease. Here, we describe a child with a novel homozygous nonsense mutation in B3GALNT2 . The affected child has severe neurological disease since birth, including muscle disease manifested as hypotonia, muscle weakness, and wasting with elevated creatine kinase, eye disease including microphthalmia and blindness, brain disease with extensive brain malformations including massive hydrocephalus, diffuse cobblestone-lissencephaly, deformed craniocervical junction, and pontocerebellar hypoplasia...
May 23, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29783274/early-seizure-freedom-is-a-prognostic-factor-for-survival-in-patients-with-west-syndrome
#2
E J C Krijgh, C E Catsman-Berrevoets, R F Neuteboom
INTRODUCTION:  West syndrome (WS) is a devastating epileptic encephalopathy with substantial mortality. After a study by Riikonen in 1996, further data on mortality and prognostic factors for survival has been scarce. We aimed to study mortality in patients with WS and identify prognostic factors for survival. METHODS:  We performed a single-center retrospective study in a tertiary referral clinic (Erasmus University Hospital/Sophia Children's Hospital). This study obtained data from deceased patients regarding the age of death and cause of death...
May 21, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/29770047/emerging-infectious-diseases-prediction-and-detection
#3
N H Ogden, P AbdelMalik, Jrc Pulliam
Emerging infectious diseases (EIDs), including West Nile virus, severe acute respiratory syndrome (SARS) and Lyme disease, have had a direct effect within Canada, while many more EIDs such as Zika, chikungunya and Ebola are a threat to Canadians while travelling. Over 75% of EIDs affecting humans are, or were originally, zoonoses (infectious diseases transmitted from animals to humans). There are two main ways by which infectious diseases can emerge: by changes in their geographical ranges and by adaptive emergence, a genetic change in a microorganism that results in it becoming capable of invading a new niche, often by jumping to a new host species such as humans...
October 5, 2017: Canada Communicable Disease Report, Relevé des Maladies Transmissibles Au Canada
https://www.readbyqxmd.com/read/29769438/cytometry-tof-identifies-alveolar-macrophage-subtypes-in-acute-respiratory-distress-syndrome
#4
Eric D Morrell, Alice Wiedeman, S Alice Long, Sina A Gharib, T Eoin West, Shawn J Skerrett, Mark M Wurfel, Carmen Mikacenic
Studies in human peripheral blood monocyte-derived macrophages in vitro have shown clear evidence that multiple macrophage polarization states exist. The extent to which different alveolar macrophage (AM) polarization states exist in homeostasis or in the setting of severe injury such as acute respiratory distress syndrome (ARDS) is largely unknown. We applied single-cell cytometry TOF (CyTOF) to simultaneously measure 36 cell-surface markers on CD45+ cells present in bronchoalveolar lavage from healthy volunteers, as well as mechanically ventilated subjects with and without ARDS...
May 17, 2018: JCI Insight
https://www.readbyqxmd.com/read/29764460/benign-and-severe-early-life-seizures-a-round-in-the-first-year-of-life
#5
REVIEW
Piero Pavone, Giovanni Corsello, Martino Ruggieri, Silvia Marino, Simona Marino, Raffaele Falsaperla
At the onset, differentiation between abnormal non-epileptic movements, and epileptic seizures presenting in early life is difficult as is clinical diagnosis and prognostic evaluation of the various seizure disorders presenting at this age. Seizures starting in the first year of life including the neonatal period might have a favorable course, such as in infants presenting with benign familial neonatal epilepsy, febrile seizures simplex or acute symptomatic seizures. However, in some cases, the onset of seizures at birth or in the first months of life have a dramatic evolution with severe cerebral impairment...
May 15, 2018: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/29761882/the-prevalence-of-obesity-in-children-and-young-people-with-down-syndrome
#6
Muireann O' Shea, Carol O' Shea, Louise Gibson, Jennifer Leo, Catherine Carty
BACKGROUND: Overweight and obesity is a growing concern among individuals with intellectual disabilities; however, little is known about the prevalence among children and youth with Down syndrome (CYDS). The purpose of this study was to determine the prevalence of overweight/obesity among CYDS in South West Ireland. METHODS: This cross-sectional study measured height and weight of 61 CYDS aged 4-16 years. Body mass index (BMI) was calculated and percentage body fat (PBF) was measured using bio-electrical impendence analysis (BIA)...
May 15, 2018: Journal of Applied Research in Intellectual Disabilities: JARID
https://www.readbyqxmd.com/read/29761022/ketogenic-diet-effects-on-52-children-with-pharmacoresistant-epileptic-encephalopathy-a-clinical-prospective-study
#7
Qiong Wu, Hua Wang, Yu Ying Fan, Jun Mei Zhang, Xue Yan Liu, Xiu Ying Fang, Feng Hua Yang, Qing Jun Cao, Ying Qi
Objective: To evaluate the clinical impact of ketogenic diet (KD) on children with pharmacoresistant epileptic encephalopathy. Methods: In all, 52 children with pharmacoresistant epileptic encephalopathy that diagnosed in our hospital from July 2012 to June 2015 were selected, including West syndrome 38 cases, Lennox-Gastaut Syndrome 7 cases, Doose Syndrome 1 case, and Dravet syndrome 6 cases, and the effect, compliance, adverse reactions, electroencephalogram (EEG), and cognitive function were analyzed...
May 2018: Brain and Behavior
https://www.readbyqxmd.com/read/29754202/regional-differences-in-cost-and-length-of-stay-in-neonates-with-hypoplastic-left-heart-syndrome
#8
Luma Essaid, Paula D Strassle, Eric G Jernigan, Jennifer S Nelson
Hypoplastic left heart syndrome (HLHS) is a highly resource-intensive diagnosis. Geographic variation in cost and length of stay (LOS) in HLHS is not well described. Neonates diagnosed with HLHS between 2000 and 2012 were identified using the Kids' Inpatient Database. Hospitalizations were stratified into two groups: (1) birth and (2) secondary. United States regional differences in hospital charges and LOS were compared using adjusted linear regression. Of 2431 birth hospitalizations, 449 neonates (18.5%) died while inpatient and mortality rates differed by region (p = 0...
May 12, 2018: Pediatric Cardiology
https://www.readbyqxmd.com/read/29746453/access-to-syringe-services-programs-kentucky-north-carolina-and-west-virginia-2013-2017
#9
Danae Bixler, Greg Corby-Lee, Scott Proescholdbell, Tina Ramirez, Michael E Kilkenny, Matt LaRocco, Robert Childs, Michael R Brumage, Angela D Settle, Eyasu H Teshale, Alice Asher
The Appalachian region of the United States is experiencing a large increase in hepatitis C virus (HCV) infections related to injection drug use (IDU) (1). Syringe services programs (SSPs) providing sufficient access to safe injection equipment can reduce hepatitis C transmission by 56%; combined SSPs and medication-assisted treatment can reduce transmission by 74% (2). However, access to SSPs has been limited in the United States, especially in rural areas and southern and midwestern states (3). This report describes the expansion of SSPs in Kentucky, North Carolina, and West Virginia during 2013-August 1, 2017...
May 11, 2018: MMWR. Morbidity and Mortality Weekly Report
https://www.readbyqxmd.com/read/29740868/de-novo-gain-of-function-variants-in-kcnt2-as-a-novel-cause-of-developmental-and-epileptic-encephalopathy
#10
Paolo Ambrosino, Maria Virginia Soldovieri, Thomas Bast, Peter D Turnpenny, Sabine Uhrig, Saskia Biskup, Miriam Döcker, Thilo Fleck, Ilaria Mosca, Laura Manocchio, Nunzio Iraci, Maurizio Taglialatela, Johannes R Lemke
Variants in several potassium channel genes have been found in developmental and epileptic encephalopathies (DEE). We report two females with de novo variants in KCNT2 with West syndrome followed by Lennox-Gastaut syndrome or with DEE with migrating focal seizures. After in vitro analysis suggested quinidine-responsive gain-of-function effects, we treated one of the girls with quinidine add-on therapy and achieved marked clinical improvements. This suggests that the new spectrum of KCNT2-related disorders do not only share similar phenotypic and in vitro functional and pharmacological features with previously known KCNT1-related disorders but also represents a further example for possible precision medicine approaches...
May 8, 2018: Annals of Neurology
https://www.readbyqxmd.com/read/29731400/treatment-of-infantile-spasms-by-pediatric-neurologists-in-japan
#11
Shin-Ichiro Hamano, Toshisaburo Nagai, Ryuki Matsuura, Yuko Hirata, Satoru Ikemoto, Atsuko Oba, Erika Hiwatari
OBJECTIVE: To clarify changes in clinical practice for infantile spasms, including West syndrome, in Japan over the past two decades. METHODS: We investigated common treatment strategies for infantile spasms among 157 pediatric neurologists from a designated training facility for pediatric neurology and/or a designated training facility for epilepsy in Japan. A questionnaire was used to investigate use of adrenocorticotropic hormone (ACTH) therapy including daily dose, treatment duration, and tapering off period, and preferred first to fifth-line treatment choices...
May 3, 2018: Brain & Development
https://www.readbyqxmd.com/read/29729979/metabolic-syndrome-and-associated-factors-among-psychiatric-patients-in-jimma-university-specialized-hospital-south-west-ethiopia
#12
Sintayehu Asaye, Shiferaw Bekele, Daniel Tolessa, Waqtola Cheneke
BACKGROUND: Metabolic syndrome is a multisystem disorder which coined to describe the recognized clustering of metabolic and cardiovascular abnormalities including obesity, hypertension, dyslipidemia, and abnormalities of glucose homeostasis. OBJECTIVE: To assess the prevalence and associated factors of metabolic syndrome among psychiatric patients in Jimma University Specialized Hospital. METHODS: This study was conducted at Jimma University Specialized hospital psychiatric ward from May 15 to July 16, 2015...
April 24, 2018: Diabetes & Metabolic Syndrome
https://www.readbyqxmd.com/read/29724126/serial-analysis-of-multiple-serum-cytokine-responses-to-adrenocorticotropic-hormone-therapy-in-patients-with-west-syndrome
#13
Gaku Yamanaka, Natsumi Morishita, Shinichiro Morichi, Mika Takeshita, Urabe Tomomi, Yu Ishida, Takamatsu Tomoko, Shingo Oana, Yusuke Watanabe, Soken Go, Yasuyo Kashiwagi, Hisashi Kawashima
Adrenocorticotropic hormone (ACTH) therapy is effective for West syndrome; however, the underlying mechanism of action remains unknown. This study explored this mechanism in 5 Japanese patients with West syndrome, injected with ACTH for 28 days. Serum samples were obtained before and 30, 120, and 720 minutes after ACTH injection divided into an "early" (1-4 days) and a "late" (10-28 days) group. Responses to ACTH over time were analyzed by measuring the levels of 27 cytokines. In the early group, serum levels of interleukins-5, -9, and -17, basic fibroblast growth factor, interferon (IFN-γ), IFN-γ-inducible protein 10, chemokine ligand (CCL) 3 and 4, and platelet-derived growth factor were higher in all patients before ACTH administration than in the 720-minute time point...
January 1, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29718786/association-between-serum-ca125-levels-in-preeclampsia-and-its-severity-among-women-in-lagos-south-west-nigeria
#14
Gbemisola E Osanyin, Kehinde S Okunade, Ayodeji Ayotunde Oluwole
BACKGROUND: Preeclampsia is a syndrome of unknown etiology characterized by hypertension, proteinuria, and/or organ dysfunction. CA125 is an antigenic determinant recognized by the murine monoclonal antibody OC125 quantified by radioimmunoassay. Its role in obstetrics is yet to be fully understood as most clinical trials advocating its uses are widely experimental in nature and unacknowledged. AIM: This study was done to assess the relationship between serum concentration of CA125 in normal pregnancies and those complicated with preeclampsia...
May 2018: Hypertension in Pregnancy
https://www.readbyqxmd.com/read/29713387/metabolic-syndrome-among-overweight-and-obese-adults-in-palestinian-refugee-camps
#15
Basma Damiri, Mohammed S Abualsoud, Amjad M Samara, Sakhaa K Salameh
Background: Metabolic syndrome (MetS) is one of the main reasons for elevated cardiovascular morbidity and mortality worldwide. Obese and overweight individuals are at high risk of developing these chronic diseases. The aim of this study was to characterize and establish sex-adjusted prevalence of metabolic syndrome and its components. Methods: A cross-sectional study was conducted in 2015, 689 (329 men and 360 women) aged 18-65 years from three refugee camps in the West Bank...
2018: Diabetology & Metabolic Syndrome
https://www.readbyqxmd.com/read/29712653/direct-activation-of-adenosine-monophosphate-activated-protein-kinase-ampk-by-pf-06409577-inhibits-flavivirus-infection-through-modification-of-host-cell-lipid-metabolism
#16
Nereida Jiménez de Oya, Ana-Belén Blázquez, Josefina Casas, Juan-Carlos Saiz, Miguel A Martín Acebes
Mosquito-borne flaviviruses are a group of RNA viruses that constitute global threats for human and animal health. Replication of these pathogens is strictly dependent on cellular lipid metabolism. We have evaluated the effect of the pharmacological activation of Adenosine Monophosphate-activated Protein Kinase (AMPK), a master regulator of lipid metabolism, on the infection of three medically relevant flaviviruses: West Nile virus (WNV), Zika virus (ZIKV) and dengue virus (DENV). WNV is responsible for recurrent outbreaks of meningitis and encephalitis affecting humans and horses worldwide...
April 30, 2018: Antimicrobial Agents and Chemotherapy
https://www.readbyqxmd.com/read/29707932/the-association-of-ppar%C3%AE-pro12ala-and-c161t-polymorphisms-with-polycystic-ovary-syndrome-and-their-influence-on-lipid-and-lipoprotein-profiles
#17
Zohreh Rahimi, Foroogh Chamaie-Nejad, Shohreh Saeidi, Ziba Rahimi, Ali Ebrahimi, Ebrahim Shakiba, Asad Vaisi-Raygani
Background: The aim of present study was to clarify the role of the peroxisome proliferator-activated receptor (PPAR) γ Pro12Ala and C161T polymorphisms in the pathogenesis of polycystic ovary syndrome (PCOS) and their influence on lipid and lipoprotein profiles of patients. MATERIALS AND METHODS: The present cross-sectional study consisted of 50 women with PCOS, who referred to the Kermanshah University of Medical Sciences Clinic between April and October 2015, and 233 unrelated age-matched healthy women from the same region (West Iran)...
July 2018: International Journal of Fertility & Sterility
https://www.readbyqxmd.com/read/29705623/pediatric-epilepsies-misdiagnosed-as-gastrointestinal-disorders
#18
Giulia Carbonari, Giacomo Tonti, Veronica Di Pisa, Emilio Franzoni, Duccio Maria Cordelli
In the last years, several cases of pediatric epilepsies misdiagnosed and treated as gastrointestinal (GI) disorders have been reported. The aim of this study was to evaluate both frequency and characteristics of these erroneous diagnoses. We identified children who had received a previous misdiagnosis of GI disorder out of 858 consecutive patients with a diagnosis of epilepsy at our hospital from 2010 to 2015. Misdiagnosis was observed in 21 patients (2.4%): 7 children with West syndrome, 10 with temporal lobe epilepsy, and 4 with Panayiotopoulos syndrome...
April 26, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29686174/analyzing-determinant-factors-for-pathophysiology-of-functional-dyspepsia-based-on-plasma-cortisol-levels-il-6-and-il-8-expressions-and-h-pylori-activity
#19
Arina Widya Murni, Eryati Darwin, Nasrul Zubir, Adnil Edwin Nurdin
BACKGROUND: there are many determinant factors that may play roles in pathophysiology of functional dyspepsia. One of them is psychological stress that can increase plasma cortisol levels, alter inflammation process and affect Helicobacter pylori activity. No study has been conducted to find out the dominant factor among them. This study aimed to find the dominant factor among plasma cortisol levels, IL-6 and IL-8 expressions and H.Pylori activity, as the determinant factors in the pathophysiology of functional dyspepsia...
January 2018: Acta Medica Indonesiana
https://www.readbyqxmd.com/read/29676348/branchiootorenal-syndrome-a-case-report
#20
Saheed Babatunde Nasir, Saadatu Jafar Ladan, Alfred Nicholas Bemu, Joshua Jibrin
Branchiootorenal syndrome is a rare autosomal dominant disorder characterised by branchial arch anomaly, hearing loss, renal anomalies and other otologic manifestations. We report a case of apparent de novo mutation that presented with hearing loss, branchial sinus and other manifestations of the disease. It is extremely rare in the West African region, and we suggest a high index of suspicion in a patient presenting with branchial sinus and/or hearing loss.
January 2018: Nigerian Postgraduate Medical Journal
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