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Jitka Rybová, Ladislav Kuchar, Helena Hulková, Befekadu Asfaw, Robert Dobrovolný, Jakub Sikora, Vladimír Havlícek, Ludovít Škultéty, Jana Ledvinová
Blood group B glycosphingolipids (B-GSLs) are substrates of the lysosomal alpha-galactosidase A (AGAL). Similar to its major substrate - globotriaosylceramide (Gb3Cer) - B-GSLs are not degraded and accumulate in the cells of patients affected by an inherited defect of AGAL activity (Fabry disease - FD).The pancreas is a secretory organ known to have high biosynthesis of blood group GSLs. Herein, we provide a comprehensive overview of the biochemical and structural abnormalities in pancreatic tissue from two male FD patients with blood group B...
March 14, 2018: Glycobiology
Arjun Sethi, Valerie Voon, Hugo D Critchley, Mara Cercignani, Neil A Harrison
Computational models of reinforcement learning have helped dissect discrete components of reward-related function and characterize neurocognitive deficits in psychiatric illnesses. Stimulus novelty biases decision-making, even when unrelated to choice outcome, acting as if possessing intrinsic reward value to guide decisions toward uncertain options. Heightened novelty seeking is characteristic of attention deficit hyperactivity disorder, yet how this influences reward-related decision-making is computationally encoded, or is altered by stimulant medication, is currently uncertain...
March 13, 2018: Brain: a Journal of Neurology
Ashley A Yttredahl, Erin McRobert, Benjamin Sheler, Brian J Mickey, Tiffany M Love, Scott A Langenecker, Jon-Kar Zubieta, David T Hsu
INTRODUCTION: Responding adaptively to one's social environment is a key factor predicting the course of major depressive disorder (MDD). Socially rejecting events can exacerbate, whereas socially accepting events can ameliorate depressive symptoms. The neural responses to rejection and acceptance in MDD are relatively unexplored. METHODS: We used functional magnetic resonance imaging (fMRI) to measure neural responses to romantic rejection and acceptance in women diagnosed with current MDD (n = 19) and a matched group of healthy controls (HCs) (n = 19)...
February 27, 2018: Journal of Affective Disorders
Judy F C Chow, William S B Yeung, Vivian C Y Lee, Estella Y L Lau, Ernest H Y Ng
OBJECTIVES: To evaluate the applicability of a commonly used next generation sequencing workflow in detecting unbalanced meiotic segregation products for reciprocal translocation and inversion carriers. STUDY DESIGN: All preimplantation genetic testing treatment cycles performed for reciprocal translocation or inversion carriers from 2012 to April 2017 were included. Three hundreds and forty-two archived whole genome amplified DNA, which had previously analyzed by array comparative genomic hybridization (aCGH), were retrospectively analyzed by next generation sequencing (NGS)...
March 9, 2018: European Journal of Obstetrics, Gynecology, and Reproductive Biology
Yasodha Maheshi Rohanachandra, Shamini Prathapan, Gampolage Swarna Wijetunge
INTRODUCTION: Maternal depression has been shown to be associated with neurodevelopmental, emotional and behavioural disorders in offspring. We aimed to describe the proportion of psychological problems among children of mothers with depression in Sri Lanka and to describe the association with the characteristics of the mothers' illness. METHODS: A cross-sectional descriptive study was conducted on 100 children and adolescents between 4-16 years whose mother has a diagnosis of depression and currently in remission...
March 3, 2018: Asian Journal of Psychiatry
Stephany M Biello, David R Bonsall, Lynsey A Atkinson, Penny C Molyneux, Mary E Harrington, Gurprit S Lall
Robust physiological circadian rhythms form an integral part of well-being. The aging process has been found to negatively impact systems that drive circadian physiology, typically manifesting as symptoms associated with abnormal/disrupted sleeping patterns. Here, we investigated the age-related decline in light-driven circadian entrainment in male C57BL/6J mice. We compared light-driven resetting of circadian behavioral activity in young (1-2 months) and old (14-18 months) mice and explored alterations in the glutamatergic pathway at the level of the circadian pacemaker, the suprachiasmatic nucleus (SCN)...
February 20, 2018: Neurobiology of Aging
Charalampos S Siristatidis, Eleni Sertedaki, Dennis Vaidakis, Christos Varounis, Marialena Trivella
BACKGROUND: In order to overcome the low effectiveness of assisted reproductive technologies (ART) and the high incidence of multiple births, metabolomics is proposed as a non-invasive method to assess oocyte quality, embryo viability, and endometrial receptivity, and facilitate a targeted subfertility treatment. OBJECTIVES: To evaluate the effectiveness and safety of metabolomic assessment of oocyte quality, embryo viability, and endometrial receptivity for improving live birth or ongoing pregnancy rates in women undergoing ART, compared to conventional methods of assessment...
March 16, 2018: Cochrane Database of Systematic Reviews
Emanuel Rivera-Rosado, David Beaton-Comulada, Eric Hernandez-Ortiz, Pablo V Marrero-Ortiz
Fibrous dysplasia is a benign developmental disorder of bone in which fibrous connective tissue containing abnormal bone with irregular trabeculae replaces normal cancellous bone. It may affect 1 (monostotic) or multiple bones (polyostotic). Polyostotic disease is the less common of the 2, occurring in only 20 to 25% of fibrous dysplasia patients and tending to affect those who are younger than 10 years of age; patients having this form tend to experience bone enlargement beyond normal skeletal maturation, which can cause pain, progressive damage, and increased risk of pathological fracture...
March 2018: Puerto Rico Health Sciences Journal
Christelle Sanchez, Gabriel Mazzucchelli, Cécile Lambert, Fanny Comblain, Edwin DePauw, Yves Henrotin
OBJECTIVE: Osteoarthritis (OA) is characterized by cartilage degradation but also by other joint tissues modifications like subchondral bone sclerosis. In this study, we used a proteomic approach to compare secretome of osteoblast isolated from sclerotic (SC) or non sclerotic (NSC) area of OA subchondral bone. DESIGN: Secretome was analyzed using differential quantitative and relative label free analysis on nanoUPLC G2 HDMS system. mRNA of the more differentially secreted proteins were quantified by RT-PCR in cell culture from 5 other patients...
2018: PloS One
R Sheelakumari, C Kesavadas, V S Lekha, Sunitha Justus, P Sankara Sarma, Ramshekhar Menon
Context: Annually 10-12% of patients with mild cognitive impairment (MCI) are likely to progress to Alzheimer's Disease (AD). The morphometric profile in stable non-converters has not been adequately characterized. Aims: To determine the structural differences between amnestic MCI and early AD using volumetric magnetic resonance imaging (MRI) and its correlation with neuropsychological test performances. Settings and Design: This was a hospital-based case-control study...
March 2018: Neurology India
Dario Graceffa, Claudio Bonifati, Viviana Lora, Pier Luigi Saraceni, Catia De Felice, Maria Sole Chimenti, Roberto Perricone, Aldo Morrone
BACKGROUND: The inflammatory involvement of the enthesis in the course of psoriasis is accompanied by structural abnormalities detectable by ultrasound. The most common of these abnormalities is the thickening of the tendon at the insertion site. AIMS: The aim of the present study was to compare the thickness of entheses of patients with psoriatic arthritis, only skin psoriasis, and healthy controls. METHODS: A cross-sectional study was conducted in a cohort of patients affected with either only skin psoriasis or psoriatic arthritis as well as in a control group...
March 16, 2018: Indian Journal of Dermatology, Venereology and Leprology
Afroditi Despina Lalou, Marek Czosnyka, Joseph Donnelly, John D Pickard, FMedSci, Eva Nabbanja, Nicole C Keong, Matthew Garnett, Zofia H Czosnyka
OBJECTIVE Normal pressure hydrocephalus is not simply the result of a disturbance in CSF circulation, but often includes cardiovascular comorbidity and abnormalities within the cerebral mantle. In this study, the authors have examined the relationship between the global autoregulation pressure reactivity index (PRx), the profile of disturbed CSF circulation and pressure-volume compensation, and their possible effects on outcome after surgery. METHODS The authors studied a cohort of 131 patients in whom a clinical suspicion of normal pressure hydrocephalus was investigated...
March 16, 2018: Journal of Neurosurgery
Tomoya Takabayashi, Mutsuaki Edama, Erika Yokoyama, Chiaki Kanaya, Takuma Inai, Yuta Tokunaga, Masayoshi Kubo
BACKGROUND: Understanding the concept of kinematic coupling is essential when selecting the appropriate therapeutic strategy and grasping mechanisms for the occurrence of injuries. A previous study reported that kinematic coupling between the rearfoot and shank during running and walking were different. However, because foot mobility involves not only the rearfoot but also the midfoot or forefoot, kinematic coupling is likely to occur among the rearfoot, midfoot, and forefoot segments...
January 2018: Journal of the American Podiatric Medical Association
Liyun Cao, Chi Hyun Lee, Jing Ning, Beverly C Handy, Elizabeth A Wagar, Qing H Meng
CONTEXT: - Prostate cancer antigen 3 (PCA3) is a noncoding RNA that is highly overexpressed in prostate cancer (PCa) tissue and excreted in urine in patients with PCa. OBJECTIVE: - To assess the clinical utility of urinary PCA3 in men at risk of PCa. DESIGN: - We retrospectively reviewed a cohort of 271 men (median age, 63 years) with elevated prostate-specific antigen (PSA), and/or strong family history, and/or abnormal digital rectal examination findings...
March 16, 2018: Archives of Pathology & Laboratory Medicine
Niki Oikonomopoulou, Ana Belén Martínez López, Javier Urbano Villaescusa, María Del Carmen Molina Molina, Laura Butragueño Laiseca, Daniel Barraca Nuñez, Olalla Álvarez Blanco
INTRODUCTION: Acute tubulointerstitial nephritis (ATIN) is a rare entity in the pediatric age. It is de fined by the infiltration of the renal parenchyma by mononuclear and/or polynuclear cells with se condary involvement of the tubules, without glomerular injury. It can be triggered by infections or immunological diseases, drugs like NSAIDs or be of idiopathic origin. OBJECTIVE: To raise awareness among pediatricians about the prescription of NSAIDs, especially to patients of less than a year old, since they can provoke renal damage...
December 2017: Revista Chilena de Pediatría
Iván José Ardila Gómez, Diana Alejandra Ruiz Rodríguez, María Rosalba Pardo Carrero
INTRODUCTION: The Mardini-Nyhan or LACHT association is a clinical condition of low prevalence that presents with pulmonary, cardiac and limb abnormalities, in which genetic etiology is not clearly documented to date. OBJECTIVE: To describe the case of a 4-month-old child and the literature review of cases reported on this association, with the purpose of exposing the alterations found and thus gui de the early diagnosis of this entity. CLINICAL CASE: 4 months old girl, who admitted to intensive care in mixed respiratory failure, with pulmonary, cardiac and limb disorders that meet criteria for LACHT association, additionally documents hypoplasia of the upper airway, which worsens the evolution, increases the difficulty in mechanical ventilation and favors the fatal outcome at 7 days of hospita lization...
December 2017: Revista Chilena de Pediatría
D Valenzuela, F Moya, M Luco, J L Tapia
50 years ago, Northway described Broncopulmonary Dysplasia (BPD) in preterm infants exposed to mechanical ventilation. Since then, their survival has increased, nevertheless a "new BPD" has appeared and its incidence has not diminished. One of the characteristics of this pathology is the the abnormal vascular remodeling, which in its most severe expression is known as Pulmonary Hyper tension (PH); with an incidence of 17% in patients with BPD, which is proportional to the severity of the disease (33% in severe BPD), and as mortality factor (up to 48% 2-year mortality in PH-BPD)...
December 2017: Revista Chilena de Pediatría
Clément Dondé, Thierry D'Amato, Romain Rey
No abstract text is available yet for this article.
March 2018: Psychiatria Danubina
Chye Soi Moi, Chia Kin Yen, Khuen Yen Ng, Koh Rhun Yian
Protein misfolding and aggregation have been considered the common pathological hallmarks for a number of neurodegenerative diseases, including Alzheimer's disease (AD), Parkinson's disease (PD) and Huntington's disease (HD). These abnormal proteins aggregation damage mitochondria and induce oxidative stress and resulting neuronal cell death. Prolong neuronal damage activates microglia and astrocytes, development of inflammation reaction and further promotes neurodegeneration. Thus, elimination of abnormal proteins aggregation without eliciting any adverse effects are the main treatment strategies...
March 15, 2018: CNS & Neurological Disorders Drug Targets
Lv Jiahui, Wu Jingde, He Feng, Qu Ying, Zhang Qiuqiong, Yu Chenggong
Rheumatoid Arthritis (RA) is a chronic autoimmune disease and becomes one of the major causes of disability and work force loss. The presence of abnormal B cell and autoantibodies produced by most RA patients, primarily ACPA and RF, indicate that the function of B cell was involved in the development of RA disease. Accordingly, the drug targeting B cell has become a hot spot in the treatment of RA. Studies have shown that Bruton's tyrosine kinase (BTK) is involved in the regulation of B cell proliferation and activation process...
March 16, 2018: Current Medicinal Chemistry
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