1,096,198 results match your criteria Syndrome of Inappropriate Secretion of Antidiuretic Hormone


Psychiatric comorbidy in Ullrich-Turner syndrome.

Fortschr Neurol Psychiatr 2018 Dec 11. Epub 2018 Dec 11.

Ruhr-Universität Bochum, Psychiatrie.

Objective: Ullrich-Turner Syndrome (UTS; Turner Syndrome (TS)) is a X-chromosomal disorder, which is characterized by a variety and heterogenous clinical conditions. Although it is not typically associated with neuropsychiatric disorders, several case reports describe concomitant TS and neuropsychiatric abnormalities that may represent a pathogenetic link.

Methods: Based on the case representation of woman with TS and co-occurrent schizoaffective disorder we discuss possible relationships and current literature. Read More

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December 2018
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Hemophagocytic Lymphohistiocytosis during the Postpartum Stage of Pregnancy: A Report of Eight Cases.

Acta Haematol 2018 Dec 7;141(1):55-60. Epub 2018 Dec 7.

Haemophagocytic lymphohistiocytosis (HLH) is a rare and severe clinical syndrome that can be classified as either primary or secondary. Secondary HLH can be triggered by a variety of diseases. Pregnancy-related HLH has already been observed clinically. Read More

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December 2018

Alterations of Renal Epithelial Glucose and Uric Acid Transporters in Fructose Induced Metabolic Syndrome.

Kidney Blood Press Res 2018 Dec 7;43(6):1822-1831. Epub 2018 Dec 7.

Division of Nephrology, Department of Internal Medicine, Kaohsiung Chang Gung Memorial Hospital and Chang Gung University College of Medicine, Kaohsiung,

Background/aims: Hyperglycemia and hyperuricemia are two major disorders of Metabolic syndrome. Kidney plays a crucial role in maintaining the homeostasis of uric acid and glucose. The aim of the study was to examine the changes of renal glucose and uric acid transporters in animals with metabolic syndrome. Read More

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December 2018

Transoral Robotic Surgery (TORS) for Bilateral Eagle Syndrome.

ORL J Otorhinolaryngol Relat Spec 2018 Dec 11;81(1):36-40. Epub 2018 Dec 11.

Eagle syndrome is a rare and poorly understood clinical condition caused by an elongated or disfigured styloid process. The possible managements of Eagle syndrome include conservative medical treatment or surgical intervention. The surgical removal of the elongated styloid process may be efficiently achieved either by an intraoral or a transcervical approach. Read More

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December 2018
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Blue Rubber Bleb Nevus Syndrome: A Possible Cause for Growth Retardation and Pubertal Delay.

Med Princ Pract 2018 Dec 10. Epub 2018 Dec 10.

Objective: To describe a rare case of Blue Rubber Bleb Nevus (BRBNS) with growth retardation and pubertal delay.

Clinical Presentation And Intervention: A 16-year-old boy with severe iron deficiency anemia was diagnosed with BRBNS, showing growth retardation and pubertal delay simultaneously. The patient was treated conservatively with intravenous iron therapy and his puberty advanced gradually. Read More

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December 2018

Nomogram Model to Predict Cardiorenal Syndrome Type 1 in Patients with Acute Heart Failure.

Kidney Blood Press Res 2018 Dec 7;43(6):1832-1841. Epub 2018 Dec 7.

Background/aims: Cardiorenal syndrome type 1(CRS1) is a serious clinical condition in patients with acute heart failure (AHF) associated with adverse clinical outcomes. Although several biomarkers for identifying CRS1 have been reported, early and accurate predicting CRS1 still remains a challenge. This study was aimed to develop and validate an individualized predictive nomogram for the risk of CRS1 in patients with AHF. Read More

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December 2018

Novel hepatoprotective role of Leonurine hydrochloride against experimental non-alcoholic steatohepatitis mediated via AMPK/SREBP1 signaling pathway.

Biomed Pharmacother 2018 Dec 7;110:571-581. Epub 2018 Dec 7.

State Key Laboratory of Natural Medicines, China Pharmaceutical University, 210009, Nanjing, Jiangsu, China; Jiangsu Key Laboratory of Drug Discovery for Metabolic Diseases, China Pharmaceutical University, 210009, Nanjing, Jiangsu, China. Electronic address:

Background And Aims: Non-alcoholic steatohepatitis (NASH) is the hepatic manifestation of metabolic syndrome and is characterized by steatosis, inflammation, and fibrosis. We aim to characterize the hepatoprotective effects of Leonurine hydrochloride (LH) and the possible pathway in a cell and rodent model of diet-induced steatohepatitis (NASH).

Methods: For in vitro studies, Palmitic acid (PA) and free fatty acid (FFA) induced HepG2 and HL7702 steatosis cell models were used. Read More

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December 2018

The refractory epilepsy screening tool for Lennox-Gastaut syndrome (REST-LGS).

Epilepsy Behav 2018 Dec 8;90:148-153. Epub 2018 Dec 8.

Icahn School of Medicine at Mount Sinai Health Systems, 10 Union Square East, Suite 5G, New York, NY 10003, USA. Electronic address:

Background: The complex clinical presentation and progression of Lennox-Gastaut syndrome (LGS) can complicate the accurate diagnosis of this severe, lifelong, childhood-onset epilepsy, often resulting in suboptimal treatment. The Refractory Epilepsy Screening Tool for LGS (REST-LGS) was developed to improve the identification of patients with LGS.

Methods: Using the Modified Delphi Consensus, a group of experts developed and tested the REST-LGS Case Report Form (CRF) comprising 8 criteria (4 major, 4 minor) considered potentially indicative of LGS. Read More

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December 2018

In vitro profiling of volatile organic compounds released by Simpson-Golabi-Behmel syndrome adipocytes.

J Chromatogr B Analyt Technol Biomed Life Sci 2018 Nov 28;1104:256-261. Epub 2018 Nov 28.

Vorarlberg Institute for Vascular Investigation and Treatment (VIVIT), Carinagasse 47, A-6800 Feldkirch, Austria; Private University of the Principality of Liechtenstein, Triesen, Liechtenstein; Medical Central Laboratories, A-6800 Feldkirch, Austria.

Breath analysis offers a non-invasive and rapid diagnostic method for detecting various volatile organic compounds that could be indicators for different diseases, particularly metabolic disorders including type 2 diabetes mellitus. The development of type 2 diabetes mellitus is closely linked to metabolic dysfunction of adipose tissue and adipocytes. However, the VOC profile of human adipocytes has not yet been investigated. Read More

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November 2018

Distal Thrombectomy for Acute Anterior Circulation Stroke with Chronic Large Vessel Occlusion.

World Neurosurg 2018 Dec 8. Epub 2018 Dec 8.

Department of Neurology, Shandong Provincial Qianfoshan Hospital, Shandong University, Jinan, 250014, Shandong, China. Electronic address:

Background: Endovascular therapy has been increasingly recommended for the treatment of acute ischemic stroke with large vessel occlusion of the anterior circulation. However, occlusions of the distal cerebral artery are not uncommon and may cause clinical deficits, especially when combined with ipsilateral chronic large vessel occlusion. Therefore, in this patient population, the recognition of chronic occlusion and recanalization of the distal occlusive artery might be of great value for flow compensation. Read More

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December 2018

GNAQ Mutations in Diffuse and Solitary Choroidal Hemangiomas.

Ophthalmology 2018 Dec 8. Epub 2018 Dec 8.

Memorial Sloan-Kettering Cancer Center, New York, NY; Weill Cornell Medical Center, New York, NY.

Purpose: GNAQ mutations have been identified in port wine stains (both syndromic and non-syndromic) and melanocytic ocular neoplasms. This study investigates the presence of GNAQ mutations in diffuse- (those associated with Sturge-Weber syndrome (SWS)) and solitary choroidal hemangiomas.

Participants: Tissue from 11 patients with the following diagnoses: port wine stain (n = 3), diffuse choroidal hemangioma (n = 1), solitary choroidal hemangioma (n = 6), choroidal nevus (n =1) METHODS: Ten specimens were interrogated with Memorial Sloan Kettering-Integrated Mutation Profiling of Actionable Cancer Targets (MSK-IMPACT), a hybridization capture-based next-generation sequencing assay for targeted deep sequencing of all exons and selected introns of 468 key cancer genes in formalin-fixed, paraffin-embedded tumors. Read More

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December 2018
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Regression in Children with Epilepsy.

Neurosci Biobehav Rev 2018 Dec 8. Epub 2018 Dec 8.

Department of Pediatrics, Dalhousie University and the IWK Health Centre, Canada.

Regression in children with epilepsy may involve loss of cognitive abilities, failure to progress or a slowing of developmental trajectory. A few seizures do not lead to regression. Large numbers of seizures may be associated with regression but the cause is an important cofounder. Read More

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December 2018

1-2-3 Project: A Quality Improvement Initiative to Normalize and Systematize Palliative Care for All Patients With Cancer in the Outpatient Clinic Setting.

J Oncol Pract 2018 Dec;14(12):e775-e785

Memorial Sloan Kettering Cancer Center, New York, NY.

Background:: Prior work to integrate early palliative care in oncology has focused on patients with advanced cancer and primarily on palliative care consultation. We developed this outpatient clinic initiative for newly diagnosed patients at any stage, emphasizing primary (nonspecialist) palliative care by oncology teams, with enhanced access to palliative care specialists.

Methods:: We piloted the project in two medical oncology specialty clinics (for patients with myelodysplastic syndrome and GI cancer, respectively) to establish feasibility. Read More

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December 2018

Literature review of apheresis procedures performed perioperatively in cardiac surgery for ASFA category indications.

J Clin Apher 2018 Dec 8. Epub 2018 Dec 8.

Department of Clinical Hematology - Blood Bank and Hemostasis, Onassis Cardiac Surgery Center, Kallithea, Greece.

Background: Perioperative therapeutic plasma exchange in patients with cardiovascular diseases poses several challenges, including alterations in intravascular volume, serum electrolytes, the coagulation cascade, and drug pharmacokinetics.

Methods: This review article summarizes different indications of plasma exchange for patients requiring cardiac surgery based on reported case reports and case series.

Results: The most common reported indication is plasma exchange for the management of allosensitized cardiac transplant candidate patients in combination with immunosuppressive regimens, which increases the likelihood of obtaining a cross-match-negative allograft, improving post-transplant clinical outcome. Read More

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December 2018

Genotype and phenotype correlations for SHANK3 de novo mutations in neurodevelopmental disorders.

Am J Med Genet A 2018 Dec 9. Epub 2018 Dec 9.

Center for Medical Genetics & Hunan Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, Hunan, China.

SHANK3 has been identified as the causative gene of 22q13.3 microdeletion syndrome phenotype. De novo mutations (DNMs) of SHANK3 were subsequently identified in patients with several neurodevelopmental disorders, including autism spectrum disorders (ASDs), schizophrenia (SCZ), a Rett syndrome-like phenotype, and intellectual disability (ID). Read More

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December 2018

Toward a solution for cardiac failure in the newborn.

Xenotransplantation 2018 Dec 11:e12479. Epub 2018 Dec 11.

Department of Surgery and Department of Microbiology & Immunology, University of Michigan, Ann Arbor, Michigan.

The newborn infant with severe cardiac failure owed to congenital structural heart disease or cardiomyopathy poses a daunting therapeutic challenge. The ideal solution for both might be cardiac transplantation if availability of hearts was not limiting and if tolerance could be induced, obviating toxicity of immunosuppressive therapy. If one could safely and effectively exploit neonatal tolerance for successful xenotransplantation of the heart, the challenge of severe cardiac failure in the newborn infant might be met. Read More

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December 2018

Physical activity energy expenditure and cardiometabolic health in three rural Kenyan populations.

Am J Hum Biol 2018 Dec 10:e23199. Epub 2018 Dec 10.

MRC Epidemiology Unit, University of Cambridge, Cambridge, UK.

Objectives: Physical activity is beneficial for metabolic health but the extent to which this may differ by ethnicity is still unclear. Here, the objective was to characterize the association between physical activity energy expenditure (PAEE) and cardiometabolic risk among the Luo, Kamba, and Maasai ethnic groups of rural Kenya.

Methods: In a cross-sectional study of 1084 rural Kenyans, free-living PAEE was objectively measured using individually-calibrated heart rate and movement sensing. Read More

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December 2018

An in vitro assessment for evaluating the efficiency of β-d-mannuronic acid (M2000) in myelodysplastic syndrome.

J Cell Physiol 2018 Dec 10. Epub 2018 Dec 10.

Department of Immunology, School of Public Health, Tehran University of Medical Sciences, Tehran, Iran.

β-d-Mannuronic acid (M2000), a novel non-steroidal anti-inflammatory drug (NSAID) with immunosuppressive properties, has been previously shown to exhibit potential therapeutic effects on autoimmune diseases. Immunosuppression therapy has been a standard approach for myelodysplastic syndrome (MDS) for many years. We evaluated the effect of M2000 on isolated peripheral blood mononuclear cells (PBMCs) from patients with MDS. Read More

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December 2018

Exercise worsening of electromechanical disturbances: a predictor of arrhythmia in long qt syndrome.

Clin Cardiol 2018 Dec 9. Epub 2018 Dec 9.

Institute of Public Health and Clinical Medicine, Umea University, Umea, Sweden.

Background: Electromechanical (EM) coupling heterogeneity is significant in long QT syndrome (LQTS), particularly in symptomatic patients; EM window (EMW) has been proposed as an indicator of interaction and a better predictor of arrhythmia than QTc.

Aim: To investigate the dynamic response of EMW to exercise in LQTS and its predictive value of arrhythmia.

Methods: Forty-seven LQTS carriers (45±15 years, 20 with arrhythmic events) and 35 controls underwent exercise echocardiogram. Read More

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December 2018

Treatment-resistant PLA2R-negative membranous nephropathy responsive to low-density lipoprotein apheresis.

J Clin Apher 2018 Dec 10. Epub 2018 Dec 10.

Department of Transfusion Medicine, National Institutes of Health Clinical Center, Bethesda, Maryland.

Idiopathic membranous nephropathy is the most common cause of nephrotic syndrome in nondiabetic adults. The antibody most often implicated is the M-type phospholipase A2 receptor (PLA2R) antibody, found in >70% of primary membranous nephropathy cases. First-line therapy is immunosuppressive in nature, but for patients who are treatment-resistant there is a significant risk of end-stage renal disease and mortality. Read More

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December 2018

Adalimumab efficacy for venous thrombosis in typical sites in Behçet's syndrome.

Arthritis Rheumatol 2018 Dec 7. Epub 2018 Dec 7.

Department of Neurosciences, Psychology, Pharmacology and Child Health (NEUROFARBA), University of Firenze, Italy.

In our work entitled "Adalimumab-based treatment versus DMARDs for venous thrombosis in Behçet syndrome. A retrospective study of 70 patients with vascular involvement" , we showed that Adalimumab (ADA)-based regimen is more effective and rapid than disease modifying anti-rheumatic drugs (DMARDs) in inducing resolution of venous thrombosis in patients with Behçet syndrome (BS), also allowing significant reduction of steroid exposure. This article is protected by copyright. Read More

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December 2018

Early outcome of magnesium bioresorbable scaffold implantation in acute coronary syndrome-the initial report from the Magmaris-ACS registry.

Catheter Cardiovasc Interv 2018 Dec 10. Epub 2018 Dec 10.

Department of Cardiology, Poznan University of Medical Sciences, Poland.

Objectives: The Magmaris-ACS Registry is the first assessment of the Magmaris implantation in the acute coronary syndrome (ACS) population.

Background: Bioresorbable vascular scaffolds (BRS), the newest coronary stent technology, was developed to overcome the limitations of the metallic drug-eluting stents (DES). Current promising data of the Magmaris in patients with stable angina have encouraged to validate the second generation BRS in ACS indications. Read More

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December 2018

Multiple chemical sensitivity syndrome is not caused by contact allergy.

Contact Dermatitis 2018 Dec 10. Epub 2018 Dec 10.

Department of Cutaneous Allergy, St John's Institute of Dermatology, Guy's & St Thomas' NHS Foundation Trust, London, UK.

There is a lack of published data on the role of patch testing in patients with so-called multiple chemical sensitivity (MCS), also known as idiopathic environmental intolerances (IEI). This disputed chronic condition is characterised by symptoms that the affected person attributes to low-level exposures to commonly used chemicals. Symptoms are typically vague and non-specific and may include fatigue, headaches, nausea, dizziness, a sensation of skin burning or pain. Read More

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December 2018
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Activating Mas receptor protects human pulmonary microvascular endothelial cells against LPS-induced apoptosis via the NF-kB p65/P53 feedback pathways.

J Cell Physiol 2018 Dec 7. Epub 2018 Dec 7.

Department of Critical Care Medicine, Shanghai Jiaotong University affiliated to The Sixth People's Hospital, Shanghai, China.

The balance between Ang II/AT1R and Ang-(1-7)/Mas plays a pivotal role in the development of lipopolysaccharides (LPS)-induced acute respiratory distress syndrome. However, the mechanisms underlying the balancing process still remain unclear. Here we investigated the roles of nuclear factor (NF)-κB and p53 in regulating AT1R and Mas expression. Read More

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December 2018

A single institutional review of pediatric Bacillus spp. bloodstream infections demonstrates increased incidence among children with cancer.

Pediatr Blood Cancer 2018 Dec 11:e27568. Epub 2018 Dec 11.

Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston, Massachusetts.

Background: Bacillus species are known to cause severe infection in immunocompromised hosts. The incidence of Bacillus bloodstream infections and characteristics of infection among children with cancer or indication for hematopoietic cell transplant (HCT) is unknown.

Methods: We performed a retrospective medical record review of all cases of Bacillus bacteremia between January 1, 2005, and December 31, 2014, at Boston Children's Hospital. Read More

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December 2018

Comparison of Fimasartan and Amlodipine Therapy on Carotid Atherosclerotic Plaque Inflammation.

Clin Cardiol 2018 Dec 9. Epub 2018 Dec 9.

Department of Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

Background: The renin-angiotensin system plays an important role in promoting atherosclerotic plaque inflammation, which may be inhibited by angiotension-II receptor blockers.

Hypothesis: We investigated the effects of fimasartan and amlodipine therapy on carotid atherosclerotic plaque inflammation using F-fluorodeoxyglucose ( FDG) positron emission tomography (PET) imaging.

Methods: Fifty patients with acute coronary syndrome and at least one lesion with FDG uptake in the carotid artery (target to background ratio (TBR) ≥ 1. Read More

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December 2018

Curcumin in tissue engineering: A traditional remedy for modern medicine.

Biofactors 2018 Dec 8. Epub 2018 Dec 8.

Bioengineering Research Group, Nanotechnology and Advanced Materials Department, Materials and Energy Research Center (MERC), Tehran, Iran.

Curcumin is the principal polyphenolic compound present in turmeric with broad applications in tissue engineering and regenerative medicine. It has some important inherent properties with the potential to facilitate tissue healing, including anti-inflammatory, anti-oxidant, and antibacterial activities. Therefore, curcumin has been used for the treatment of various damaged tissues, especially wound injuries. Read More

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December 2018

Microglial cell activation and senescence are characteristic of the pathology FXTAS.

Mov Disord 2018 Dec 10. Epub 2018 Dec 10.

MIND Institute, UC Davis Medical Center, Sacramento, California, USA.

Background: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder associated with premutation alleles of the FMR1 gene. Expansions of more than 200 CGG repeats give rise to fragile X syndrome, the most common inherited form of cognitive impairment. Fragile X-associated tremor/ataxia syndrome is characterized by cerebellar tremor and ataxia, and the presence of ubiquitin-positive inclusions in neurons and astrocytes. Read More

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December 2018

The clinical impact of exosomes in cardiovascular disorders: From basic science to clinical application.

J Cell Physiol 2018 Dec 10. Epub 2018 Dec 10.

Department of Metabolic Syndrome Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.

Cardiovascular disease (CVD) is the major cause of death globally; therefore, there is a need for the identification of a valid biomarker that accurately predicts the risk of developing CVD, and novel therapeutic approaches for its treatment. Exosomes are very small extracellular vesicles containing protein, lipid, transcription factors, messenger RNAs, noncoding RNA, and nucleic acid contents that are important players in intercellular communication, and that act via long-range signals or cell-to-cell contact. The discovery of exosomes provides potential strategies for the diagnosis and treatment of CVD. Read More

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December 2018

Neuromuscular transmission defects in myopathies: rare but worth searching for.

Muscle Nerve 2018 Dec 7. Epub 2018 Dec 7.

Department of Neurology, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905.

Introduction: Decremental responses in repetitive nerve stimulation (RNS) have been reported in a few hereditary myopathies. We examined the frequency of decrement in a cohort of myopathy patients.

Methods: We reviewed all patients referred for myopathy who underwent RNS between January 2007 and May 2017. Read More

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December 2018

Tau PET Imaging for Staging of Alzheimer's Disease in Down Syndrome.

Authors:
Michael S Rafii

Dev Neurobiol 2018 Dec 8. Epub 2018 Dec 8.

Alzheimer's Therapeutic Research Institute (ATRI), Keck School of Medicine, University of Southern California.

Alzheimer's disease (AD) pathology and early-onset dementia develop almost universally in Down syndrome (DS). AD is defined neuropathologically by the presence of extracellular plaques of aggregated amyloid β protein and intracellular neurofibrillary tangles (NFTs) of aggregated hyperphosphorylated tau protein. The development of radiolabeled positron emission tomography (PET) ligands for amyloid plaques and tau tangles enables the longitudinal assessment of the spatial pattern of their accumulation in relation to symptomatology. Read More

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December 2018

Hepatobiliary and Pancreatic: Sertraline-induced vanishing bile duct syndrome treated with plasmapheresis.

J Gastroenterol Hepatol 2018 Dec 9. Epub 2018 Dec 9.

Department of Pathology, Río Hortega Universitary Hospital, Valladolid, Spain.

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December 2018

Activation of TGF-β1/Smad3 signaling pathway inhibits the development of ovarian follicle in polycystic ovary syndrome by promoting apoptosis of granulosa cells.

J Cell Physiol 2018 Dec 7. Epub 2018 Dec 7.

Department of Assisted Reproduction, Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, P.R. China.

Objective: To investigate the role of the transforming growth factor-β1 (TGF-β1)/Smad3 signaling pathway in development of ovarian follicle by promoting apoptosis of granulosa cells in polycystic ovary syndrome (PCOS).

Methods: A total of 54 female rats were obtained and randomly assigned into the PCOS (n = 27) and control groups ( n = 27). PCOS rat models were constructed using the dehydroepi-androsterone method to observe ovarian morphology and ultrastructure. Read More

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December 2018

Infants who die in shared sleeping situations differ from those who die while sleeping alone.

Acta Paediatr 2018 Dec 10. Epub 2018 Dec 10.

Discipline of Anatomy and Pathology, Adelaide Medical School, The University of Adelaide, Adelaide, Australia.

Aim: To determine whether there are differences between infants who are sharing a sleeping surface with others, compared to those who die alone.

Methods: A literature review was undertaken of pubmed and google scholar databases using search terms: sudden infant death syndrome, SIDS, cosleeping and overlaying.

Results: Statistically significant differences were found between the two groups in the sex ratios, and in staining of brain sections for β-amyloid precursor protein (β-APP), glial fibrillary acidic protein (GFAP) and terminal deoxynucleotidyl transferase-mediated dUTP nick-end labelling (TUNEL). Read More

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December 2018

High-sensitivity Cardiac Troponin T as a Predictor of Acute Total Occlusion in Patients with Non-ST-segment Elevation Acute Coronary Syndrome.

Clin Cardiol 2018 Dec 7. Epub 2018 Dec 7.

Cardiology Department, Instituto Cardiovascular de Buenos Aires (ICBA), Buenos Aires, Argentina.

Background: A large percentage of patients with non-ST-segment acute coronary syndrome (NSTE-ACS) present with acute total occlusion (TO) of some major epicardial vessel that does not generate electrocardiographic changes. Ongoing research into the methods of accurately predicting acute TO have not yielded great success. The present study aimed to evaluate the predictive value of high-sensitivity cardiac troponin T (hs-cTnT) for the presence of acute TO of the culprit artery in patients with NSTE-ACS. Read More

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December 2018

Persistence of a pacemaker lead-like "ghost" 6 months after lead extraction.

Echocardiography 2018 Dec 9. Epub 2018 Dec 9.

Rajaie Cardiovascular Medical & Research Center, Tehran, Iran.

Residual fibrous structures, referred as "ghosts", are occasionally encountered following lead extraction. Though typically detected in patients with cardiac device infections, their prognostic and therapeutic implications remain speculative. We describe a 62-year-old gentleman with history of sick sinus syndrome who presented atrial fibrillation with rapid ventricular response. Read More

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December 2018

Parenting behaviour and executive function in children with Down syndrome.

J Intellect Disabil Res 2018 Dec 10. Epub 2018 Dec 10.

Human Development and Family Studies, Colorado State University, Fort Collins, CO, USA.

Background: Parenting behaviours influence many domains of child development, and recent work has demonstrated the specific effects of parenting on the development of executive function (EF) abilities. The relationship between parent-child interaction patterns and EF has been examined in typically developing (TD) children but has not yet been examined in dyads where the child has a diagnosis of Down syndrome (DS).

Method: The current study examines the differences in patterns of parenting behaviours between DS dyads and dyads with TD children equated on nonverbal mental age. Read More

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December 2018

Otopathology in Angiosarcoma of the Temporal Bone.

Laryngoscope 2018 Dec 11. Epub 2018 Dec 11.

Department of Otolaryngology, Harvard Medical School, Boston, Massachusetts.

Objectives/hypothesis: Investigate the otopathology of angiosarcoma of the temporal bone, which has not been previously described in the literature.

Study Design: Postmortem evaluation and literature review.

Methods: Postmortem histological evaluation of the temporal bones and review of the literature for the treatment and prognosis of this rare disease were performed. Read More

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December 2018

Intellectual, adaptive and behavioural characteristics in four patients with 18p deletion syndrome.

J Intellect Disabil Res 2018 Dec 9. Epub 2018 Dec 9.

Genetics Division, Department of Morphology and Genetics, Universidade Federal de São Paulo, São Paulo, Brazil.

Background: The association of behavioural phenotype assessment with cytogenomic characterisation may provide a better comprehension of genotype-phenotype correlations in syndromes caused by chromosomal abnormalities, such as 18p deletion syndrome.

Method: We report on four Brazilian patients with 18p deletion syndrome characterised by cytogenomic techniques and detailed neuropsychological evaluation. Intellectual, adaptive and behavioural characteristics were assessed through the Wechsler's Scales, the Vineland-II Scale and the Child Behaviour Checklist, respectively. Read More

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December 2018

The array of clinical phenotypes of males with mutations in Methyl-CpG binding protein 2.

Am J Med Genet B Neuropsychiatr Genet 2018 Dec 7. Epub 2018 Dec 7.

University of Alabama at Birmingham, Birmingham, Alabama.

Mutations in the X-linked gene MECP2 are associated with a severe neurodevelopmental disorder, Rett syndrome (RTT), primarily in girls. It had been suspected that mutations in Methyl-CpG-binding protein 2 (MECP2) led to embryonic lethality in males, however such males have been reported. To enhance understanding of the phenotypic spectrum present in these individuals, we identified 30 males with MECP2 mutations in the RTT Natural History Study databases. Read More

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December 2018

Novel compound heterozygous FATP4 mutations caused ichthyosis prematurity syndrome in Spanish sisters.

Acta Paediatr 2018 Dec 11. Epub 2018 Dec 11.

Fundación Pública Galega de Medicina Xenómica-SERGAS, CIBERER, IDIS, Grupo de Medicina Xenómica-Universidade de Santiago de Compostela, Santiago de CompostelaSpain.

Ichthyosis prematurity syndrome (IPS), or ichthyosis congenita type IV, is a rare syndromic form of autosomic recessive ichthyosis caused by mutations in fatty acid transport protein 4 (FATP4), also known as SLC27A4. Patients with a disrupted FATP4 gene are usually born prematurely with thick desquamating skin and other complications, such as neonatal asphyxia, eosinophilia and elevated serum immunoglobulin E levels. Symptoms become less severe after the first months of life, evolving to non-scaly ichthyosis with follicular hyperkeratosis in adulthood (1, 2). Read More

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December 2018
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Living donor Liver transplantation for Acute on chronic Liver failure.

Liver Transpl 2018 Dec 8. Epub 2018 Dec 8.

Institute of Liver Transplantation and Regenerative Medicine, Medanta-The Medicity Gurugram-122001, Delhi (NCR), India.

Introduction: Acute-on-chronic liver failure (ACLF) is a syndrome characterized by acute decompensation of previously diagnosed or undiagnosed liver disease with organ failure(s) with high short-term mortality. This study was conducted to report the outcomes of LDLT in ACLF and assess the survival benefit of liver transplantation in these patients.

Materials And Methods: It was a retrospective study of 218 ACLF patients (based on EASL-CLIF criteria) from January 2014 through November 2017. Read More

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December 2018

Concurrent pituitary and adrenocortical lesions on computed tomography imaging in dogs with spontaneous hypercortisolism.

J Vet Intern Med 2018 Dec 11. Epub 2018 Dec 11.

Department of Clinical Sciences of Companion Animals, Faculty of Veterinary Medicine, Utrecht University, Utrecht, The Netherlands.

Background: Spontaneous hypercortisolism or Cushing's syndrome in dogs is either pituitary or adrenal dependent, but concurrent pituitary and adrenal hypercortisolism also has been reported.

Objective: To determine how often concurrent pituitary and adrenal lesions are present in dogs with spontaneous hypercortisolism.

Animals: Two hundred one client-owned dogs with spontaneous hypercortisolism. Read More

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December 2018

Medulloblastoma and secondary acute myeloid leukemia in a patient with Turner syndrome.

Pediatr Blood Cancer 2018 Dec 10:e27576. Epub 2018 Dec 10.

Division of Hematology/Oncology, Department of Pediatrics, Nemours/A.I duPont Hospital for Children, Thomas Jefferson University, Wilmington, Delaware.

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December 2018

Aicardi syndrome, an unsolved mystery: Review of diagnostic features, previous attempts, and future opportunities for genetic examination.

Am J Med Genet C Semin Med Genet 2018 Dec 10. Epub 2018 Dec 10.

Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.

Aicardi syndrome is a rare, severe neurodevelopmental disorder classically characterized by the triad of infantile spasms, central chorioretinal lacunae, and agenesis of the corpus callosum. Aicardi syndrome only affects females, with the exception of a few males with a 47, XXY chromosome constitution. All cases are de novo and the only cases of definitive recurrence in families are in identical twins. Read More

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December 2018
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A de novo 1p35.2 microdeletion including PUM1 identified in a patient with sporadic West syndrome.

Congenit Anom (Kyoto) 2018 Dec 10. Epub 2018 Dec 10.

Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan.

Microdeletions in 1p35.2 region are rare and there are only two reports . Here, we report an additional patient with a de novo 1p35. Read More

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December 2018

Combined flecainide and sotalol therapy for multifocal atrial tachycardia in cardio-facio-cutaneous syndrome.

Pediatr Int 2018 Nov;60(11):1036-1037

Department of Pediatric Cardiology, Okinawa Children's Medical Center, Okinawa, Japan.

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November 2018

Cryptococcus gattii infection complicated by immune reconstitution inflammatory syndrome in three apparently immunocompetent children.

J Paediatr Child Health 2018 Dec 8. Epub 2018 Dec 8.

Department of Paediatrics, Royal Darwin Hospital, Darwin, Northern Territory, Australia.

Background: Paediatric Cryptococcus gattii disease is rare, with only two previous cases recorded in the Northern Territory (NT) over the last 54 years. Immune reconstitution inflammatory syndrome (IRIS) is a recognised complication of C. gattii infection, even in the absence of an identified immunodeficiency syndrome; however, limited paediatric data exist. Read More

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December 2018
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