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one and a half syndrome

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https://www.readbyqxmd.com/read/29666346/genetic-heterogeneity-in-van-der-woude-syndrome-identification-of-nol4-and-irf6-haplotype-from-the-noncoding-region-as-candidates-in-two-families
#1
Priyanka Kumari Kumari, Akhtar Ali, Subodh Kumar Singh, Amit Chaurasia, Rajiva Raman
Van der Woude syndrome (VWS) shows an autosomal dominant pattern of inheritance with two known candidate genes, IRF6 and GRHL3. In this study, by employing genome-wide linkage analyses on two VWS affected families, we report the cosegregation of an intronic rare variant in NOL4 in one family, and a haplotype consisting of three variants in the noncoding region of IRF6 (introns 1, 8 and 3'UTR) in the other family. Using mouse, as well as human embryos as a model, we demonstrate the expression of NOL4 in the lip and palate primordia during their development...
March 2018: Journal of Genetics
https://www.readbyqxmd.com/read/29656986/eight-and-a-half-syndrome-a-combination-of-intracranial-capillary-telangiectasia-and-hematencephalon
#2
Wei Li, Deren Hou, Yanyao Deng, Yi Tian
Eight-and-a-half syndrome, a combination of one-and-a-half syndrome and ipsilateral facial palsy, was first described by Eggenberger in 1998. Intracranial capillary telangiectasia (ICT) is a rare type of latent cerebral vascular malformation characterized by a number of small, dilated, and thin-walled blood capillaries with normal brain tissues between them. Susceptibility weighted imaging is the recommended diagnostic method to detect ICT. Oommen once reported 1 case about pontine hemorrhage causing Fisher one-and-a-half syndrome with facial paralysis...
April 12, 2018: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/29650340/longitudinal-evaluation-of-efficacy-safety-and-nutritional-status-during-one-year-treatment-with-the-duodenal-jejunal-bypass-liner
#3
Nina Riedel, Katharina Laubner, Anne Lautenbach, Gerhard Schön, Matthias Schlensak, Rainer Stengel, Thomas Eberl, Frank Dederichs, Jens Aberle, Jochen Seufert
BACKGROUND: The endoscopic duodenal-jejunal bypass liner (DJBL) represents a novel temporary endoscopic approach for treatment of obesity-associated type 2 diabetes. Recent results from the German DJBL registry confirmed substantial positive metabolic effects of the DJBL in type 2 diabetes. However, the last Food and Drug Administration trial was stopped due to a high occurrence of hepatic abscesses (3.5%). OBJECTIVES: Here, we analyzed time courses of development of co-morbidities, nutritive changes, and occurrence of adverse events during the 1-year treatment phase with the DJBL in the German DJBL registry...
March 9, 2018: Surgery for Obesity and related Diseases: Official Journal of the American Society for Bariatric Surgery
https://www.readbyqxmd.com/read/29649387/multi-omics-research-trends-in-sepsis-a-bibliometric-comparative-analysis-between-the-united-states-the-european-union-28-member-states-and-china
#4
Nikolaos Evangelatos, Kapaettu Satyamoorthy, Georgia Levidou, Pia Bauer, Helmut Brand, Christina Kouskouti, Hans Lehrach, Angela Brand
"-Omics" research is in transition with the recent rise of multi-omics technology platforms. Integration of "-omics" and multi-omics research is of high priority in sepsis, a heterogeneous syndrome that is widely recognized as a global health burden and a priority biomedical funding field. We report here an original study on bibliometric trends in the use of "-omics" technologies, and multi-omics approaches in particular, in sepsis research in three (supra)national settings, the United States, the European Union 28 Member States (EU-28), and China...
March 2018: Omics: a Journal of Integrative Biology
https://www.readbyqxmd.com/read/29625732/healthcare-use-patterns-and-economic-burden-of-chronic-musculoskeletal-pain-in-children-before-diagnosis
#5
Frances Tian, Patsy Guittar, Melissa Moore-Clingenpeel, Gloria Higgins, Stacy P Ardoin, Charles H Spencer, Karla Jones, Bethanne Thomas, Shoghik Akoghlanian, Sharon Bout-Tabaku
OBJECTIVES: To evaluate the healthcare use and costs of amplified musculoskeletal pain syndrome (AMPS) in children before diagnosis. STUDY DESIGN: We performed a retrospective study in children with AMPS at a pediatric rheumatology clinic between 2010 and 2014. Data were abstracted on 80 patients after primary rheumatic diseases were excluded. Healthcare visits, medications and diagnostic testing that occurred in the years before diagnosis were collected. The Medical Expenditure Panel Survey was used to estimate visit costs...
April 3, 2018: Journal of Pediatrics
https://www.readbyqxmd.com/read/29620693/longer-term-effectiveness-and-tolerability-of-adjunctive-open-lurasidone-in-patients-with-bipolar-disorder
#6
Shefali Miller, Dennis Do, Anda Gershon, Po W Wang, Farnaz Hooshmand, Lauren S Chang, Terence A Ketter
PURPOSE: To retrospectively assess lurasidone effectiveness/efficacy/tolerability in bipolar disorder (BD) patients. METHODS: Outpatients assessed with Systematic Treatment Enhancement Program for BD Affective Disorders Evaluation received naturalistically administered (primarily adjunctive) open lurasidone while monitored at visits with the Systematic Treatment Enhancement Program for BD Clinical Monitoring Form. RESULTS: Sixty-one patients (32 type I, 26 type II, 3 type not otherwise specified; mean ± SD age, 45...
April 3, 2018: Journal of Clinical Psychopharmacology
https://www.readbyqxmd.com/read/29619682/a-population-pharmacokinetic-and-pharmacodynamic-analysis-of-rp5063-phase-2-study-data-in-patients-with-schizophrenia-or-schizoaffective-disorder
#7
Marc Cantillon, Robert Ings, Arul Prakash, Laxminarayan Bhat
BACKGROUND AND OBJECTIVE: RP5063 is a novel multimodal dopamine (D)-serotonin (5-HT) stabilizer possessing partial agonist activity for D2/3/4 and 5-HT1A/2A , antagonist activity for 5-HT2B/2C/7, and moderate affinity for the serotonin transporter. Phase 2 trial data analysis of RP5063 involving patients with schizophrenia and schizoaffective disorder defined: (1) the pharmacokinetic profile; and (2) the pharmacokinetic/pharmacodynamic relationships. METHODS: Pharmacokinetic sample data (175 patients on RP5063; 28 doses/patient) were analyzed, utilized one- and two-compartment models, and evaluated the impact of covariates...
April 4, 2018: European Journal of Drug Metabolism and Pharmacokinetics
https://www.readbyqxmd.com/read/29614284/animal-left-right-asymmetry
#8
Martin Blum, Tim Ott
Symmetry is appealing, be it in architecture, art or facial expression, where symmetry is a key feature to finding someone attractive or not. Yet, asymmetries are widespread in nature, not as an erroneous deviation from the norm but as a way to adapt to the prevailing environmental conditions at a time. Asymmetries in many cases are actively selected for: they might well have increased the evolutionary fitness of a species. Even many single-celled organisms are built asymmetrically, such as the pear-shaped ciliate Paramecium, which may depend on its asymmetry to navigate towards the oxygen-richer surface of turbid waters, at least based on modeling...
April 2, 2018: Current Biology: CB
https://www.readbyqxmd.com/read/29608813/identification-of-a-pten-mutation-with-reduced-protein-stability-phosphatase-activity-and-nuclear-localization-in-hong-kong-patients-with-autistic-features-neurodevelopmental-delays-and-macrocephaly
#9
Chi Wai Wong, Penelope Mei Yu Or, Yubing Wang, Lisha Li, Jing Li, Mingfei Yan, Ye Cao, Ho Ming Luk, Tony Ming For Tong, Nick R Leslie, Ivan Fai-Man Lo, Kwong Wai Choy, Andrew Man Lok Chan
PTEN is a tumor suppressor gene inactivated in over 30% of human cancers. It encodes a lipid phosphatase that serves as a gatekeeper of the phosphoinositide 3-kinase signaling pathway. Germline mutation frequently occurs in this gene in patients diagnosed with PTEN Hamartoma Tumor Syndrome (PHTS). PHTS individuals are characterized by macrocephaly, benign growth of multiple tissues and increased tumor risk. In addition, autistic phenotypes are found in 10-20% of individuals carrying the germline PTEN mutation with macrocephaly...
April 2, 2018: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/29602306/coronary-artery-fistula-with-associated-takotsubo-cardiomyopathy-a-case-report
#10
Rabail Qureshi, Leo Kao, Rakesh P Gupta
BACKGROUND: Coronary artery fistula, first described by Krause in 1865, is an abnormal communication between the coronary artery and one of the four chambers of the heart or one of the great vessels. The communications are often congenital but may also be acquired from trauma or invasive cardiovascular procedures. Half of the cases present with angina pectoris whereas the remaining half are incidentally detected on echocardiogram or angiogram performed for an unrelated reason. Takotsubo cardiomyopathy or stress-induced cardiomyopathy is characterized by transient left ventricular dysfunction with minimal elevation of cardiac biomarkers in the absence of underlying coronary artery disease...
March 30, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29602081/juvenile-myoclonic-epilepsy-refractory-to-treatment-in-a-tertiary-referral-center
#11
Gonçalo Cação, Joana Parra, Shahidul Mannan, Sanjay M Sisodiya, Josemir W Sander
INTRODUCTION: Juvenile myoclonic epilepsy (JME) is an epileptic syndrome often regarded as one in which seizures are relatively easy to control. Individuals with JME, however, often require lifelong therapy to remain seizure-free, and a few have refractory epilepsy. We ascertained a population with JME and characterized a subgroup with refractory epilepsy. MATERIAL AND METHODS: We audited and reviewed clinical records of individuals diagnosed with JME identified via a sample of 6600 individuals in a clinical database from a specialized epilepsy clinic at a tertiary referral center...
March 26, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29599784/disease-evolution-and-response-to-rapamycin-in-activated-phosphoinositide-3-kinase-%C3%AE-syndrome-the-european-society-for-immunodeficiencies-activated-phosphoinositide-3-kinase-%C3%AE-syndrome-registry
#12
Maria Elena Maccari, Hassan Abolhassani, Asghar Aghamohammadi, Alessandro Aiuti, Olga Aleinikova, Catherine Bangs, Safa Baris, Federica Barzaghi, Helen Baxendale, Matthew Buckland, Siobhan O Burns, Caterina Cancrini, Andrew Cant, Pascal Cathébras, Marina Cavazzana, Anita Chandra, Francesca Conti, Tanya Coulter, Lisa A Devlin, J David M Edgar, Saul Faust, Alain Fischer, Marina Garcia Prat, Lennart Hammarström, Maximilian Heeg, Stephen Jolles, Elif Karakoc-Aydiner, Gerhard Kindle, Ayca Kiykim, Dinakantha Kumararatne, Bodo Grimbacher, Hilary Longhurst, Nizar Mahlaoui, Tomas Milota, Fernando Moreira, Despina Moshous, Anna Mukhina, Olaf Neth, Benedicte Neven, Alexandra Nieters, Peter Olbrich, Ahmet Ozen, Jana Pachlopnik Schmid, Capucine Picard, Seraina Prader, William Rae, Janine Reichenbach, Stephan Rusch, Sinisa Savic, Alessia Scarselli, Raphael Scheible, Anna Sediva, Svetlana O Sharapova, Anna Shcherbina, Mary Slatter, Pere Soler-Palacin, Aurelie Stanislas, Felipe Suarez, Francesca Tucci, Annette Uhlmann, Joris van Montfrans, Klaus Warnatz, Anthony Peter Williams, Phil Wood, Sven Kracker, Alison Mary Condliffe, Stephan Ehl
Activated phosphoinositide 3-kinase (PI3K) δ Syndrome (APDS), caused by autosomal dominant mutations in PIK3CD (APDS1) or PIK3R1 (APDS2), is a heterogeneous primary immunodeficiency. While initial cohort-descriptions summarized the spectrum of clinical and immunological manifestations, questions about long-term disease evolution and response to therapy remain. The prospective European Society for Immunodeficiencies (ESID)-APDS registry aims to characterize the disease course, identify outcome predictors, and evaluate treatment responses...
2018: Frontiers in Immunology
https://www.readbyqxmd.com/read/29599748/polyostotic-fibrous-dysplasia-with-and-without-mccune-albright-syndrome-clinical-features-in-a-nordic-pediatric-cohort
#13
Pauliina Utriainen, Helena Valta, Sigridur Björnsdottir, Outi Mäkitie, Eva Horemuzova
Objective: Fibrous dysplasia (FD) presents as skeletal lesions in which normal bone is replaced by abnormal fibrous tissue due to mosaic GNAS mutation. McCune-Albright syndrome (MAS) refers to FD combined with skin (café-au-lait) and endocrine manifestations. This study describes the clinical childhood manifestations of polyostotic FD and MAS in a Nordic cohort. Patients and design: We retrospectively reviewed a cohort of pediatric patients ( n  = 16) with polyostotic FD with or without MAS diagnosed and followed in two Nordic Pediatric tertiary clinics between 1996 and 2017...
2018: Frontiers in Endocrinology
https://www.readbyqxmd.com/read/29582948/-advances-in-fetal-therapy-in-complicated-monochorionic-pregnancies-and-in-severe-congenital-diaphragmatic-hernia-five-years-experience
#14
Yuval Gielchinsky, Dan V Valsky, Nili Yanai, Firas J Abdeljawad, Mazen A Muhaisen, Dan Arbell, Yehuda Ginosar, Orna Ben-Yosef, Orite Winograd, Benjamin Bar-Oz, Simcha Yagel, Smadar Eventov-Friedman
INTRODUCTION: : Minimally invasive fetal therapeutic procedures reduce the morbidity and mortality in monochorionic (MC) twins and in fetuses with congenital diaphragmatic hernia (CDH). MC pregnancies share their blood systems due to communicating vessels over their single placenta and may develop specific complications: Twin-to-Twin transfusion syndrome (TTTS), Selective intrauterine growth restriction (sIUGR), Twin Anemia-Polycythemia Sequence (TAPS), Twin Reverse Arterial Perfusion Syndrome (TRAP) or anomalies in one...
March 2018: Harefuah
https://www.readbyqxmd.com/read/29580292/hermansky-pudlak-syndrome-type-2-manifests-with-fibrosing-lung-disease-early-in-childhood
#15
Meike Hengst, Lutz Naehrlich, Poornima Mahavadi, Joerg Grosse-Onnebrink, Suzanne Terheggen-Lagro, Lars Høsøien Skanke, Luise A Schuch, Frank Brasch, Andreas Guenther, Simone Reu, Julia Ley-Zaporozhan, Matthias Griese
BACKGROUND: Hermansky-Pudlak syndrome (HPS), a hereditary multisystem disorder with oculocutaneous albinism, may be caused by mutations in one of at least 10 separate genes. The HPS-2 subtype is distinguished by the presence of neutropenia and knowledge of its pulmonary phenotype in children is scarce. METHODS: Six children with genetically proven HPS-2 presented to the chILD-EU register between 2009 and 2017; the data were collected systematically and imaging studies were scored blinded...
March 27, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29576598/clinical-characteristics-management-and-outcomes-of-japanese-patients-hospitalized-for-heart-failure-with-preserved-ejection-fraction-a-report-from-the-japanese-heart-failure-syndrome-with-preserved-ejection-fraction-jasper-registry
#16
Toshiyuki Nagai, Tsutomu Yoshikawa, Yoshihiko Saito, Yasuchika Takeishi, Kazuhiro Yamamoto, Hisao Ogawa, Toshihisa Anzai
BACKGROUND: Despite the specific characteristics of heart failure with preserved ejection fraction (HFpEF) having been demonstrated predominantly from registries in Western countries, important international differences exist in terms of patient characteristics, management and medical infrastructure between Western and Asian countries.Methods and Results:We performed nationwide registration of consecutive Japanese hospitalized HFpEF patients with left ventricular EF ≥50% from 15 sites between November 2012 and March 2015...
March 23, 2018: Circulation Journal: Official Journal of the Japanese Circulation Society
https://www.readbyqxmd.com/read/29572929/multiple-genetic-variations-in-sodium-channel-subunits-in-a-case-of-sudden-infant-death-syndrome
#17
Federico Denti, Bo Hjorth Bentzen, Julianne Wojciak, Nancy Mutsaers Thomsen, Melvin Scheinman, Nicole Schmitt
BACKGROUND: Dysfunction of NaV 1.5 encoded by SCN5A accounts for approximately half of the channelopathic SIDS cases. We investigated the functional effect of two gene variants identified in the same patient, one in SCN5A and one in SCN1Bb. The aim of the study was to risk stratify the proband's family. METHODS: The family was referred for cardiovascular genetic evaluation to assess familial risk of cardiac disease. Functional analysis of the identified variants was performed with patch-clamp electrophysiology in HEK293 cells...
March 23, 2018: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/29572278/iv-steroids-during-long-episodes-of-kleine-levin-syndrome
#18
Antoine Léotard, Elisabeth Groos, Charlotte Chaumereuil, Laure Peter-Derex, Andrea O Rossetti, Smaranda Leu-Semenescu, Isabelle Arnulf
OBJECTIVE: To retrospectively compare the benefits (episode cessation) and risks of IV methylprednisolone (IV-MP) vs abstention during prolonged Kleine-Levin syndrome (KLS) episodes. METHODS: A total of 26 patients with KLS received 1 g/d IV-MP for 3 days during 1 to 6 episodes each (totaling 43 IV-MP sessions). The change of episode duration with IV-MP (vs previous episode duration) was compared with the change duration between 2 consecutive episodes in 48 untreated patients matched for age, sex, age at KLS onset, number of episodes, and disease duration (more treated than untreated patients had long episodes)...
March 23, 2018: Neurology
https://www.readbyqxmd.com/read/29564828/genes-proteins-and-biological-pathways-preventing-chromothripsis
#19
Martin Poot
The highly complex structural genome variations chromothripsis, chromoanasynthesis, and chromoplexy are subsumed under the term chromoanagenesis, which means chromosome rebirth. Precipitated by numerous DNA double-strand breaks, they differ in number of and distances between breakpoints, associated copy number variations, order and orientation of segments, and flanking sequences at joining points. Results from patients with the autosomal dominant cancer susceptibility disorder Li-Fraumeni syndrome implicated somatic TP53 mutations in chromothripsis...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29562544/aging-without-dementia-is-achievable-current-evidence-from-epidemiological-research
#20
Chengxuan Qiu, Laura Fratiglioni
Both the incidence and the prevalence of dementia increase exponentially with increasing age. This raises the question of whether dementia is an inevitable consequence of aging or whether aging without dementia is achievable. In this review article, we sought to summarize the current evidence from epidemiological and neuropathological studies that investigated this topic. Epidemiological studies have shown that dementia could be avoided even at extreme old ages (e.g., centenarians or supercentenarians). Furthermore, clinico-neuropathological studies found that nearly half of centenarians with dementia did not have sufficient brain pathology to explain their cognitive symptoms, while intermediate-to-high Alzheimer pathology was present in around one-third of very old people without dementia or cognitive impairment...
2018: Journal of Alzheimer's Disease: JAD
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