556,544 results match your criteria Aplasia Cutis Congenita


Isolated Ascites in a Monochorionic Twin after Fetoscopic Laser Ablation Is Not Necessarily Secondary to Recurrence or Anaemia: Bowel Complications in Twin-to-Twin Transfusion Syndrome after Fetoscopic Laser Ablation.

Fetal Diagn Ther 2018 Dec 14:1-10. Epub 2018 Dec 14.

Fetal Medicine Centre, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom.

Background/purpose: We report a case study of jejunal atresia and the results of a systematic literature review of all reported cases of bowel complications occurring after fetoscopic laser ablation (FLA) for the treatment of twin-to-twin transfusion syndrome (TTTS).

Methods: A systematic literature review was performed of bowel complications after FLA for TTTS according to PRISMA guidelines.

Results: There are 11 published cases of small bowel atresia, 5 cases of necrotising enterocolitis (NEC), and 2 cases with foetal bowel perforations. Read More

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December 2018

Computed tomography thorax abnormalities in immunocompetent patients with tuberculous meningitis: An observational study.

J Neurol Sci 2018 Dec 7;397:11-15. Epub 2018 Dec 7.

Department of Neurology, King George Medical University, Lucknow, Uttar Pradesh, India.

Objective: Computed tomography (CT) of the thorax is the imaging modality of choice to detect or demonstrate lesions suggestive of active pulmonary tuberculosis. We aimed to evaluate the imaging abnormalities detected on CT of the thorax in patients with tuberculous meningitis (TBM).

Methods: In this prospective study, we enrolled consecutive newly-diagnosed patients with TBM. Read More

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December 2018

Exenatide modulates expression of metalloproteinases and their tissue inhibitors in TNF-α stimulated human retinal pigment epithelial cells.

Pharmacol Rep 2018 Oct 3;71(1):175-182. Epub 2018 Oct 3.

Department of Ophthalmology, School of Medicine in Katowice, Medical University of Silesia, Katowice, Poland.

Background: Diabetic retinopathy (DR) is one of the most common complications of diabetes and the leading cause of acquired blindness in adults. In diabetic patients hyperglycemia induces complex metabolic abnormalities affecting retinal homeostasis, and promotes retinal inflammation and angiogenesis. Incretin mimetic drugs such exenatide, are a relatively new group of drugs used in the treatment of diabetes. Read More

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October 2018

DNA variants in Helicobacter pylori infected patients with chronic gastritis, dysplasia and gastric cancer.

Adv Med Sci 2018 Dec 13;64(1):79-84. Epub 2018 Dec 13.

Department of Biochemistry and Biotechnology, Poznan University of Life Sciences, Poznan, Poland; Institute of Human Genetics, Polish Academy of Sciences, Poznan, Poland. Electronic address:

Purpose: The main scope of this study was to evaluate the importance of selected DNA variants for developing inflammation of gastric mucosa and carcinogenesis in gastrointestinal diseases in patients infected with Helicobacter pylori.

Patients And Methods: Patients subjected to analysis constituted a group of 131 consecutive cases, with control groups consisting of 100 healthy volunteers and 13 dyspeptic patients. Molecular analysis included the following genes: TP53 (c. Read More

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December 2018

Clinical tests to determine femoral version category in people with chronic hip joint pain and asymptomatic controls.

Musculoskelet Sci Pract 2018 Dec 10;39:115-122. Epub 2018 Dec 10.

Program in Physical Therapy, Washington University School of Medicine, St. Louis, MO, United States; Department of Orthopaedic Surgery, Washington University School of Medicine, St Louis, MO, United States. Electronic address:

Study Design: Controlled laboratory cross-sectional.

Objectives: To investigate the relationship between femoral version (FV), measured by MRI (FVMRI), Craig's test and hip rotation range of motion (ROM). To determine rotation ROM values associated with FVMRI categories: excessive anteversion, normal version and retroversion. Read More

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December 2018

Potassium Abnormalities Across the Spectrum of Heart Failure.

JACC Heart Fail 2018 Dec 7. Epub 2018 Dec 7.

Duke University Medical Center, Durham, North Carolina.

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December 2018

Different patterns of white matter changes after successful surgery of mesial temporal lobe epilepsy.

Neuroimage Clin 2018 Dec 8:101631. Epub 2018 Dec 8.

Department of Neurology, West China Hospital, Sichuan University, Chengdu, Sichuan, China. Electronic address:

Objectives: To explore the dynamic changes of white matters following anterior temporal lobectomy (ATL) in mesial temporal lobe epilepsy (MTLE) patients who achieved seizure-free at two-year follow-up.

Methods: Diffusion tensor imaging (DTI) was obtained in ten MTLE patients at five serial time points: before surgery, three months, six months, 12 months and 24 months after surgery, as well as in 11 age- and sex-matched healthy controls at one time point. Regions with significant postoperative fractional anisotropy (FA) changes and their dynamic changes were confirmed by comparing all preoperative and postoperative data using Tract-Based Spatial Statistics (TBSS). Read More

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December 2018

Proportionate and Disproportionate Functional Mitral Regurgitation: A New Conceptual Framework That Reconciles the Results of the MITRA-FR and COAPT Trials.

JACC Cardiovasc Imaging 2018 Dec 6. Epub 2018 Dec 6.

Division of Cardiology, Department of Internal Medicine, Baylor University Medical Center, Dallas, Texas.

Traditional approaches to the characterization of secondary or functional mitral regurgitation (MR) have largely ignored the critical importance of the left ventricle (LV). We propose that patients with secondary MR represent a heterogenous group, which can be usefully subdivided based on understanding that the effective regurgitant orifice area (EROA) is dependent on left ventricular end-diastolic volume (LVEDV). According to the Gorlin hydraulic orifice equation, patients with heart failure, an LV ejection fraction of 30%, an LVEDV of 220 to 250 ml, and a regurgitant fraction of 50% would be expected to have an EROA of ≈0. Read More

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December 2018

[Glomerulopathy associated with lecithin-cholesterol-acyltransferase deficiency: A case report and literature review].

Ann Pathol 2018 Dec 12. Epub 2018 Dec 12.

Service d'anatomie et cytologie pathologiques, hôpital Timone, 264, rue Saint-Pierre, 13005 Marseille, France; Inserm U1263, C2VN, Aix Marseille université, 13006 Marseille, France.

Glomerulopathy associated with lecithin-cholesterol-acyltransferase deficiency (LCAT) is a rare automosal recessive disease. Acquired LCAT deficiency due to inhibitory autoantibodies against LCAT are also described. This disease is induced by systemic deposits related to a lipid metabolism disorder and lead to multi-organ involvement including renal involvement. Read More

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December 2018

Clinical impact of MYC abnormalities in plasma cell myeloma.

Cancer Genet 2018 Dec 30;228-229:115-126. Epub 2018 Oct 30.

Department of Pathology, UT Southwestern Medical, 5323 Harry Hines Blvd, Dallas, TX 75390, United States of America. Electronic address:

Clinically and genomically, plasma cell myeloma (PCM) is a complex disease affecting the elderly population and has often had a poor prognosis. Karyotypic analysis of tumor cells is somewhat limited due to a low proliferative index coupled with a low frequency of tumor cells in clinical samples. Nevertheless, complex karyotypes with a multitude of numerical, balanced and unbalanced structural aberrations have been reported in these tumors. Read More

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December 2018

Medium-chain triglyceride reinforce the hepatic damage caused by fructose intake in mice.

Prostaglandins Leukot Essent Fatty Acids 2019 Jan 10;140:64-71. Epub 2018 Nov 10.

Laboratory of Morphometry, Metabolism and Cardiovascular Diseases, Biomedical Center, Institute of Biology, State University of Rio de Janeiro, Rio de Janeiro, Brazil.

We aimed to investigate the effects of medium-chain triglyceride oil on the high fructose diet-provoked hepatic abnormalities in mice. We used C57bl/6 mice of 3-months-old divided into four groups for 12 weeks: control (C), control with MCT (C-MCT), fructose (F), and fructose with MCT (F-MCT). We investigated food and water intake, body mass, blood pressure, glucose tolerance, plasma and liver biochemistry, hepatic protein and gene expression. Read More

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January 2019

Autoimmune encephalitis following alemtuzumab treatment of multiple sclerosis.

Mult Scler Relat Disord 2018 Dec 3;28:31-33. Epub 2018 Dec 3.

Department of Neurology, St Vincent's Hospital, 390 Victoria St, Darlinghurst, Sydney, NSW 2010, Australia.

Secondary autoimmune disorders are a recognised complication of alemtuzumab treatment for multiple sclerosis. We report a case of autoimmune encephalitis manifesting as a polymorphic epilepsia partialis continua / status epilepticus seven months after the second course of alemtuzumab in a patient with previous autoimmune hypothyroidism and immune thrombocytopenic purpura. An MRI revealed multifocal cortical abnormalities and neuronal loss was evident on biopsy. Read More

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December 2018
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Fluorodeoxyglucose positron emission tomography studies of the schizophrenia spectrum: The legacy of Monte S. Buchsbaum, M.D.

Psychiatry Res 2018 Dec 7;271:535-540. Epub 2018 Dec 7.

Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY, United States; Mental Illness Research, Education, and Clinical Center (VISN 2), James J. Peters VA Medical Center, 130 West Kingsbridge Road, Room 6A-44, Bronx, NY, United States.

This is a selective review of the work of Buchsbaum and colleagues. It revisits and pays tribute to four decades of publications employing positron emission tomography (PET) with fluorodeoxyglucose (FDG) to examine the neurobiology of schizophrenia-spectrum disorders (including schizotypal personality disorder (SPD) and schizophrenia). Beginning with a landmark FDG-PET study in 1982 reporting hypofrontality in unmedicated schizophrenia patients, Buchsbaum and colleagues published high-impact work on regional glucose metabolic rate (GMR) abnormalities in the spectrum. Read More

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December 2018

Harmonization of pipeline for preclinical multicenter plasma protein and miRNA biomarker discovery in a rat model of post-traumatic epileptogenesis.

Epilepsy Res 2018 Nov 26;149:92-101. Epub 2018 Nov 26.

A.I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, Kuopio, Finland.

The Epilepsy Bioinformatics Study for Antiepileptogenic Therapy (EpiBioS4Rx) is an international, multicenter, multidisciplinary study aimed at preventing epileptogenesis (EpiBioS4Rx: https://epibios.loni.usc. Read More

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November 2018
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Breast lesion detection and characterization with contrast-enhanced magnetic resonance imaging: Prospective randomized intraindividual comparison of gadoterate meglumine (0.15 mmol/kg) and gadobenate dimeglumine (0.075 mmol/kg) at 3T.

J Magn Reson Imaging 2018 Dec 15. Epub 2018 Dec 15.

Department of Biomedical Imaging and Image-guided Therapy, Division of Molecular and Gender Imaging, Medical University of Vienna, Vienna, Austria.

Background: Contrast-enhanced magnetic resonance imaging (CE-MRI) of the breast is highly sensitive for breast cancer detection. Multichannel coils and 3T scanners can increase signal, spatial, and temporal resolution. In addition, the T -reduction effect of a gadolinium-based contrast agent (GBCA) is higher at 3T. Read More

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December 2018

Response to "Reproductive Function Abnormalities and Bariatric Surgery: is a Matter of Time?"

Obes Surg 2018 Dec 14. Epub 2018 Dec 14.

Cleveland Clinic Lerner College of Medicine, 9980 Carnegie Ave, Cleveland, OH, 44195, USA.

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December 2018

White matter organization in developmental coordination disorder: A pilot study exploring the added value of constrained spherical deconvolution.

Neuroimage Clin 2018 Dec 3. Epub 2018 Dec 3.

Mary MacKillop Institute for Health Research, Faculty of Health Sciences, Australian Catholic University, Melbourne, Australia.

Previous studies of white matter organization in sensorimotor tracts in developmental coordination disorder (DCD) have adopted diffusion tensor imaging (DTI), a method unable to reconcile pathways with 'crossing fibres'. In response to limitations of the commonly adopted DTI approach, the present study employed a framework that can reconcile the 'crossing fibre' problem (i.e. Read More

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December 2018
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Cortical networks are disturbed in people with cirrhosis even in the absence of neuropsychometric impairment.

Clin Neurophysiol 2018 Nov 26. Epub 2018 Nov 26.

UCL Institute for Liver & Digestive Health, Division of Medicine, Royal Free Campus, University College London, Hampstead, London, UK. Electronic address:

Objective: Hepatic encephalopathy is a common complication of cirrhosis; it is characterised by neuropsychometric/neurophysiological abnormalities. Its pathophysiology is complex but glial neuronal communication is likely to be disrupted and to impact on oscillatory networks and cortical connectivity. The aim of this study was to use multichannel electroencephalography (EEG) to investigate functional connectivity, as a surrogate for cortical networks, in patients with cirrhosis. Read More

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November 2018

Left ventricular hypertrophy is a possible biomarker for early mortality after type B aortic dissection.

J Vasc Surg 2018 Dec 11. Epub 2018 Dec 11.

Division of Vascular Surgery, Department of Surgery, University of Washington, Seattle, Wash. Electronic address:

Objective: Data regarding the cardiac abnormalities associated with Stanford type B aortic dissection (TBAD) and whether these abnormalities are related to outcomes are limited. We describe the prevalence of cardiac abnormalities in patients with TBAD as detected by echocardiography.

Methods: This retrospective review included patients with TBAD presenting between 1990 and 2016. Read More

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December 2018

Axoglial Adhesion by Cadm4 Regulates CNS Myelination.

Neuron 2018 Dec 5. Epub 2018 Dec 5.

Department of Molecular Cell Biology, The Weizmann Institute of Science, Rehovot 76100, Israel. Electronic address:

The initiation of axoglial contact is considered a prerequisite for myelination, yet the role cell adhesion molecules (CAMs) play in mediating such interactions remains unclear. To examine the function of axoglial CAMs, we tested whether enhanced CAM-mediated adhesion between OLs and neurons could affect myelination. Here we show that increased expression of a membrane-bound extracellular domain of Cadm4 (Cadm4dCT) in cultured oligodendrocytes results in the production of numerous axoglial contact sites that fail to elongate and generate mature myelin. Read More

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December 2018

Pediatric Fatty Liver and Obesity: Not Always Justa Matter of Non-Alcoholic Fatty Liver Disease.

Children (Basel) 2018 Dec 13;5(12). Epub 2018 Dec 13.

Pediatrics Residency Joint Programs, University of Naples Federico II, 80131 Naples, Italy.

Obesity-related non-alcoholic fatty liver disease (NAFLD) represents the most common cause of pediatric liver disease due to overweight/obesity large-scale epidemics. In clinical practice, diagnosis is usually based on clinical features, blood tests, and liver imaging. Here, we underline the need to make a correct differential diagnosis for a number of genetic, metabolic, gastrointestinal, nutritional, endocrine, muscular, and systemic disorders, and for iatrogenic/viral/autoimmune hepatitis as well. Read More

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December 2018

Potential mechanisms underlying the protective effects of salvianic acid A against atherosclerosis in vivo and vitro.

Biomed Pharmacother 2019 Jan 5;109:945-956. Epub 2018 Nov 5.

Pain Medicine Center, The Third Hospital of Hebei Medical University, 139 Ziqiang Road, Shijiazhuang 050051, China. Electronic address:

Salvianic acid A (SAA) is an active water-soluble constituent derived from Salvia miltiorrhiza Bge that is used extensively in the treatment of angiocardiopathy in China. However, few reports have investigated the therapeutic effect and the underlying mechanisms of SAA on atherosclerosis (AS). This study examines the protective mechanisms of SAA on AS in vivo and in vitro. Read More

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January 2019

Metformin; an old antidiabetic drug with new potentials in bone disorders.

Biomed Pharmacother 2019 Jan 26;109:1593-1601. Epub 2018 Nov 26.

Cellular and Molecular Research Center, Cellular and Molecular Medicine Institute, Urmia University of Medical Sciences, Urmia, Iran. Electronic address:

The prevalence of diabetes mellitus especially type 2 diabetes mellitus is increasing all over the world. In addition to cardiomyopathy and nephropathy, diabetics are at higher risk of mortality and morbidity due to greater risk of bone fractures and skeletal abnormalities. Patients with diabetes mellitus have lower bone quality in comparison to their non-diabetic counterparts mainly because of hyperglycemia, toxic effects of advanced glycosylation end-products (AGEs) on bone tissue, and impaired bone microvascular system. Read More

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January 2019

Preventive effect of trans-chalcone on non-alcoholic steatohepatitis: Improvement of hepatic lipid metabolism.

Biomed Pharmacother 2019 Jan 9;109:1306-1312. Epub 2018 Nov 9.

Drug Applied Research Center, Tabriz University of Medical Sciences, Tabriz, Iran. Electronic address:

Non-alcoholic steatohepatitis (NASH) is an inflammatory and progressive form of non-alcoholic fatty liver disease. However, there are no FDA-approved drugs for this condition. Lipids accumulated in NASH have a direct role in the progression of this disease. Read More

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January 2019

Chrysin attenuates inflammatory and metabolic disorder indices in aged male rat.

Biomed Pharmacother 2019 Jan 6;109:1120-1125. Epub 2018 Nov 6.

Department of Basic Medical Sciences, Neyshabur University of Medical Sciences, Neyshabur, Iran. Electronic address:

Advanced age is a major risk factor for metabolic disorders. Accelerated inflammatory processes with increased age can contribute to the pathogenesis of metabolic disturbances. Chrysin is a natural flavonoid ingredient of honey and propolis. Read More

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January 2019
1 Read
2.023 Impact Factor

Association of Upregulated Angiogenic Cytokines With Choroidal Abnormalities in Chronic Central Serous Chorioretinopathy.

Invest Ophthalmol Vis Sci 2018 Dec;59(15):5924-5931

Department of Ophthalmology, Kyoto Prefectural University of Medicine, Kyoto, Japan.

Purpose: To clarify the distinct molecular pathogenesis of central serous chorioretinopathy (CSC) and pachychoroid neovasculopathy (PNV).

Methods: Aqueous humor (AH) was collected from 18 acute CSC, 20 chronic CSC, and 20 PNV patients. Concentrations of 30 cytokines in the AH were analyzed using a multiplex bead immunoassay, and the cytokine profiles were compared among these three groups of patients. Read More

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December 2018

Cytological and molecular aspects of the ageing sperm.

Hum Reprod 2018 Dec 14. Epub 2018 Dec 14.

Laboratory of Seminology - Sperm Bank 'Loredana Gandini' Department of Experimental Medicine, 'Sapienza' University of Rome, Italy.

Study Question: Is ageing associated with a decline in semen quality and molecular changes to human sperm?

Summary Answer: Semen quality declines with advancing age and characteristic molecular changes take place during the ageing process, including increased sperm DNA damage, altered sperm protamination and altered seminal plasma miRNA profile.

What Is Known Already: During ageing, the reproductive system is exposed to physiological changes and potentially damaging factors that may impair testicular function. Reactive oxygen species (ROS) can induce errors during DNA replication, transcription or post-transcriptional events (fragmentation, chromatin condensation abnormalities and protamine expression defects). Read More

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December 2018

Aerobic Exercise Training Alleviates Renal Injury by Interfering with Mitochondrial Function in Type-1 Diabetic Mice.

Med Sci Monit 2018 Dec 14;24:9081-9089. Epub 2018 Dec 14.

Department of Sports, Shanghai University of Traditional Chinese Medicine, Shanghai, China (mainland).

BACKGROUND Diabetic nephropathy was one of the most serious and harmful diabetic complications, characterized by progressive loss of renal function and renal fibrosis. Aerobic exercise training is an important non-pharmacologic method to prevent and treat diabetes mellitus and diabetic complications. MATERIAL AND METHODS Intraperitoneal (i. Read More

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December 2018

Biotinidase deficiency should be considered in individuals thought to have multiple sclerosis and related disorders.

Authors:
Barry Wolf

Mult Scler Relat Disord 2018 Nov 28;28:26-30. Epub 2018 Nov 28.

Division of Genetics, Birth Defects and Metabolism, Department of Pediatrics, Ann and Robert H. Lurie Children's Hospital of Chicago and Northwestern Feinberg School of Medicine Chicago, IL 60611, USA. Electronic address:

Background: Multiple sclerosis is a disorder of the central and peripheral nervous system of young and old adults that is characterized by muscle, coordination and vision abnormalities. Multiple sclerosis is likely due to numerous causes.

Methods: Recently, adolescents and adults with ophthalmological and or neurological findings have been diagnosed with biotinidase deficiency. Read More

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November 2018
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Impact of selenium nano-particles in semen extender on bull sperm quality after cryopreservation.

Theriogenology 2018 Dec 5;126:121-127. Epub 2018 Dec 5.

Animal Production Research Institute, Dokki, Giza, Egypt.

The aim of this study was to evaluate the effect of adding different concentrations of selenium nano-particles (Se-NPs) in semen extender on bull sperm cryopreservation. Five healthy, fertile Friesian bulls were used, and the ejaculates were obtained using an artificial vagina. Semen of all bulls were pooled and diluted in a tris-yolk fructose (TYF) extender supplemented with Se-NPs at concentrations of 0 (T1, control), 0. Read More

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December 2018

Scavenging effect of oxidized biochar against the phytotoxicity of lead ions on hydroponically grown chicory: An anatomical and ultrastructural investigation.

Ecotoxicol Environ Saf 2018 Dec 11;170:363-374. Epub 2018 Dec 11.

Department of Agricultural and Biological Engineering, University of Florida, Gainesville, FL 32611, United States; Department of Soil Science, University of Haripur, Haripur 22620, Khyber Pakhtunkhwa, Pakistan.

To evaluate the scavenging effect of functionalized biochar against the phytotoxicity of Pb, original biochar (O-B) was chemically oxidized with either HNO or KMnO to serve as biofilters (O-BF, HNO-BF and KMnO-BF) to hydroponically grown chicory (Cichorium intybus L. var. intybus). Read More

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December 2018

The T-type calcium channel antagonist, Z944, alters social behavior in Genetic Absence Epilepsy Rats from Strasbourg.

Behav Brain Res 2018 Dec 11. Epub 2018 Dec 11.

University of Saskatchewan, Department of Physiology, Saskatoon, SK, Canada.

Abnormalities in social behavior are a co-morbid symptom of idiopathic generalized epilepsies such as childhood absence epilepsy. The Genetic Absence Epilepsy Rats from Strasbourg (GAERS) model is a spontaneously occurring absence epilepsy phenotype closely correlated to that of human absence epilepsies. Similar to the human conditions, GAERS display social abnormalities. Read More

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December 2018

The IRS/PI3K/Akt signaling pathway mediates olanzapine-induced hepatic insulin resistance in male rats.

Life Sci 2018 Dec 11. Epub 2018 Dec 11.

Department of Pharmacy, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China; Endocrinology and Metabolism Group, Sydney Institute of Health Sciences, Sydney Institute of Traditional Chinese Medicine, Sydney, NSW 2000, Australia. Electronic address:

Aims: Chronic treatment with antipsychotics, especially most of atypical ones, leads to development of metabolic abnormalities. Olanzapine is an atypical antipsychotic widely used in the treatment of schizophrenia and bipolar disorder. The mechanisms underlying olanzapine-induced metabolic adverse effects in the liver, however, remain unclear. Read More

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December 2018
2 Reads

Expanding the Molecular Characterization of Thoracic Inflammatory Myofibroblastic Tumors beyond ALK gene rearrangements.

J Thorac Oncol 2018 Dec 11. Epub 2018 Dec 11.

Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY. Electronic address:

Background: Half of inflammatory myofibroblastic tumors (IMTs) regardless of anatomic location harbor ALK gene rearrangements and overexpress ALK protein. The wide application of next generation sequencing (NGS) and the clinical benefit to tyrosine kinase inhibitors have opened new opportunities for investigation of ALK-negative IMT.

Design: In this study we investigate a series of pediatric and adult thoracic IMT for abnormalities in a wide spectrum of actionable kinases, by applying a variety of molecular and NGS techniques, including FISH, targeted RNA sequencing and NanoString. Read More

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December 2018
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Drp1/Fis1-mediated mitochondrial fragmentation leads to lysosomal dysfunction in cardiac models of Huntington's disease.

J Mol Cell Cardiol 2018 Dec 11. Epub 2018 Dec 11.

Department of Chemical and Systems Biology, Stanford University School of Medicine, Stanford, CA, United States. Electronic address:

Huntington's disease (HD) is a fatal hereditary neurodegenerative disorder, best known for its clinical triad of progressive motor impairment, cognitive deficits and psychiatric disturbances, is caused by CAG-repeat expansion in exon 1 of Huntingtin (HTT). However, in addition to the neurological disease, mutant HTT (mHTT), which is ubiquitously expressed in all tissues, impairs other organ systems. Not surprisingly, cardiovascular dysautonomia as well as the deterioration of circadian rhythms are among the earliest detectable pathophysiological changes in individuals with HD. Read More

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December 2018
1 Read

Type VI collagen promotes lung epithelial cell spreading and wound-closure.

PLoS One 2018 14;13(12):e0209095. Epub 2018 Dec 14.

Division of Neonatology and Pediatric Molecular and Personalized Medicine Program, Department of Pediatrics, University of Rochester, Rochester, New York, United States of America.

Basement membrane (BM) is an essential part of the extracellular matrix (ECM) that plays a crucial role in mechanical support and signaling to epithelial cells during lung development, homeostasis and repair. Abnormal composition and remodeling of the lung ECM have been associated with developmental abnormalities observed in multiple pediatric and adult respiratory diseases. Collagen VI (COL6) is a well-studied muscle BM component, but its role in the lung and its effect on pulmonary epithelium is largely undetermined. Read More

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December 2018
2 Reads
3.234 Impact Factor

Pathologic Prognostic Factors in Endometrial Carcinoma (Other Than Tumor Type and Grade).

Int J Gynecol Pathol 2019 Jan;38 Suppl 1:S93-S113

Department of Cellular Pathology, Barts Health NHS Trust, London (N.S.) Department of Cellular Pathology, Birmingham Women's NHS Trust, Birmingham (L.H.) Department of Pathology, Belfast Health and Social Care Trust, Belfast (W.G.M.), UK Division of Anatomic Pathology, Hershey Medical Center, Pennsylvania State University, Hershey, Pennsylvania (R.Z.) Department of Pathology, Mexico City Hospital of Oncology, Mexico City, Mexico (I.A.-C.) Department of Pathology and Laboratory Medicine, University of Calgary, Calgary, Alberta, Canada (M.A.D.) Department of Pathology, Wayne State University, Detroit, Michigan (R.A.-F.) Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, Texas (E.E., A.M.) Department of Pathology, Beth Israel Deaconess Medical Center and Harvard Medical School (J.L.H.) Department of Pathology, Brigham and Women's Hospital, Harvard Medical School (M.N.) Department of Pathology, Massachusetts General Hospital, Harvard Medical School (E.O.), Boston, Massachusetts Division of Gynecologic, Breast & Perinatal Pathology, University Hospital Leipzig, Leipzig (L.-C.H.) Institute of Pathology, University Hospital of Tübingen, Tübingen (A.S.), Germany Department of Anatomical Pathology, University of Maryland, College Park, Maryland (O.I.) Pathological Oncology Group and Pathology Department, University Hospital of Arnau de Vilanova, Lleida (X.M.-G.) Department of Pathology, Hospital Clinic of Barcelona, ISGlobal, Barcelona Center for International Health Research, University of Barcelona, Barcelona (J.O.), Spain Department of Diagnostic Pathology, Kumamoto University Hospital, Kumamoto, Japan (Y.M.) Department of Pathology, Yale University School of Medicine, New Haven, Connecticut (V.P.) Department of Pathology, Women and Infants Hospital/Warren Alpert Medical School of Brown University, Providence, Rhode Island (M.R.Q.) Department of Pathology, University of Arkansas for Medical Sciences, Little Rock, Arkansas (C.M.Q.) Department of Pathology, University of California, San Francisco, San Francisco, California (C.Z.).

Although endometrial carcinoma (EC) is generally considered to have a good prognosis, over 20% of women with EC die of their disease, with a projected increase in both incidence and mortality over the next few decades. The aim of accurate prognostication is to ensure that patients receive optimal treatment and are neither overtreated nor undertreated, thereby improving patient outcomes overall. Patients with EC can be categorized into prognostic risk groups based on clinicopathologic findings. Read More

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January 2019

Hypogonadotropic hypogonadism and pituitary hypoplasia as recurrent features in Ulnar-Mammary syndrome.

Endocr Connect 2018 Dec;7(12):1432-1441

IRCCS Istituto Auxologico Italiano, Service of Medical Genetics, Milan, Italy.

Ulnar-mammary syndrome (UMS) is characterized by ulnar defects, and nipple or apocrine gland hypoplasia, caused by TBX3 haploinsufficiency. Signs of hypogonadism were repeatedly reported, but the mechanisms remain elusive. We aim to assess the origin of hypogonadism in two families with UMS. Read More

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December 2018
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Preoperative serum albumin as a predictor of complications following total hip replacement in patients with rheumatoid arthritis.

Acta Ortop Mex 2018 Jul-Aug;32(4):193-197

Trauma and Orthopaedic Surgery Hospitals. UMAE «Dr. Victorio de la Fuente Narváez», Mexico City.

Background: Rheumatoid arthritis is a chronic inflammatory disease characterized by polyarthritis with progressive articular wear, immunologic abnormalities and increasing physical limitation. Surgical correction with hip replacement comes as a successful solution for patients with advanced articular destruction. Following intervention, surgical site infection (SSI), venous thromboembolism, sepsis, renal and major cardiovascular complications are among the most cited in the literature. Read More

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December 2018

A homozygous MITF mutation leads to familial Waardenburg syndrome type 4.

Am J Med Genet A 2018 Dec 14. Epub 2018 Dec 14.

Department of Otolaryngology - Head and Neck Surgery, The Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.

Waardenburg syndrome (WS) is a genetic disorder characterized by hearing loss and pigmentary abnormalities with variable penetrance. Though heterozygous mutations in MITF are a major cause for Waardenburg syndrome type 2 (WS2), homozygous mutations in this gene and the associated phenotype have been rarely characterized. In this study, we identified a novel p. Read More

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December 2018
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Systematic review and meta-analysis on the role of prenatal magnetic resonance imaging in the era of fetal neurosonography: mild and moderate ventriculomegaly.

Ultrasound Obstet Gynecol 2018 Dec 14. Epub 2018 Dec 14.

Women´s Health and Perinatology Research Group, Department of Clinical Medicine, Faculty of Health Sciences, UiT-The Arctic University of Norway, Tromsø, Norway.

Objectives: To report the rate of additional anomalies detected exclusively on prenatal MRI in fetuses affected by isolated mild or moderate ventriculomegaly (VM) according to the type of ultrasound protocol adopted (dedicated neurosonography vs standard assessment of fetal brain) and to explore whether the diagnostic performance of fetal MRI in detecting such anomalies is affected by gestational age at scan and laterality of ventricular dilatation.

Methods: The primary aim was to report the rate of additional anomalies detected exclusively on prenatal MRI in fetuses affected by isolated mild and moderate VM (ventricular dilatation between 10-15 mm) undergoing compared to those not undergoing dedicated neurosonography, defined as a detail assessment of fetal brain according to the International Society of Ultrasound in Obstetrics and Gynecology guidelines. Medline, Embase, Cinahl and Clinicaltrials. Read More

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December 2018

Pharmacological induction of a progenitor state for the efficient expansion of primary human hepatocytes.

Hepatology 2018 Dec 14. Epub 2018 Dec 14.

School of Life Sciences, Ecole Polytechnique Fédérale de Lausanne (EPFL), 1015, Lausanne, Switzerland.

The liver is an organ with strong regenerative capacity, yet primary hepatocytes have a low amplification potential in vitro, a major limitation for the cell-based therapy of liver disorders and for ex vivo biological screens. Induced pluripotent stem cells (iPSC) may help to circumvent this obstacle, but often harbor genetic and epigenetic abnormalities limiting their potential. Here, we describe the pharmacological induction of proliferative human hepatic progenitor cells (HPC) through a cocktail of growth factors and small molecules mimicking the signaling events involved in liver regeneration. Read More

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December 2018

Detecting neurodevelopomental effects of early-gestation ethanol exposure: a non-human primate model of ethanol drinking during pregnancy.

Alcohol Clin Exp Res 2018 Dec 14. Epub 2018 Dec 14.

Division of Neuroscience, Oregon National Primate Research Center, Beaverton, OR.

Introduction: Gestational ethanol exposure is associated with multiple developmental abnormalities, collectively termed fetal alcohol spectrum disorder (FASD). While the majority of women abstain from ethanol following knowledge of pregnancy, one contributing factor to the high FASD prevalence is that pregnancy is not detected until 4-6 weeks. Thus, ethanol consumption continues during the initial stages of fetal development. Read More

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December 2018

Impact of high- versus low-risk genotype on sinonasal radiographic disease in cystic fibrosis.

Laryngoscope 2018 Dec 14. Epub 2018 Dec 14.

Department of Otolaryngology Head and Neck Surgery, Johns Hopkins Hospital, Baltimore, Maryland, U.S.A.

Objective: Understanding of how specific mutations impact the cystic fibrosis transmembrane conductance regulator (CFTR) protein has given rise to the classification of CF patients into low-risk and high-risk genotypes. Few prior studies have investigated differences in sinonasal disease between low-risk and high-risk CF genotypes. This multi-institutional review aimed to evaluate radiographic sinus disease severity based on genotype. Read More

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December 2018

Sublaminar organization of the human subplate: developmental changes in the distribution of neurons, glia, growing axons and extracellular matrix.

J Anat 2018 Dec 13. Epub 2018 Dec 13.

Croatian Institute for Brain Research, School of Medicine, University of Zagreb, Zagreb, Croatia.

The objective of this paper was to collect normative data essential for analyzing the subplate (SP) role in pathogenesis of developmental disorders, characterized by abnormal circuitry, such as hypoxic-ischemic lesions, autism and schizophrenia. The main cytological features of the SP, such as low cell density, early differentiation of neurons and glia, plexiform arrangement of axons and dendrites, presence of synapses and a large amount of extracellular matrix (ECM) distinguish this compartment from the cell-dense cortical plate (CP; towards pia) and large fiber bundles of external axonal strata of fetal white matter (towards ventricle). For SP delineation from these adjacent layers based on combined cytological criteria, we analyzed the sublaminar distribution of different microstructural elements and the associated maturational gradients throughout development, using immunocytochemical and histological techniques on postmortem brain material (Zagreb Neuroembryological Collection). Read More

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December 2018

Cervical Spinal Cord Stimulation for the Vegetative State: A Preliminary Result of 12 Cases.

Neuromodulation 2018 Dec 13. Epub 2018 Dec 13.

Department of Neurosurgery, West China Hospital of Sichuan University, Chengdu, China.

Objectives: Data on the treatment of the vegetative state (VS) with cervical spinal cord stimulation (cSCS) are limited and prognostic factors are inconclusive. In this study, we present our experience of treating 12 VS patients with cSCS and discuss the prognostic factors.

Methods: Twelve VS patients were enrolled. Read More

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December 2018

Associated anomalies in cases with anorectal anomalies.

Am J Med Genet A 2018 Dec 12:e40530. Epub 2018 Dec 12.

Laboratoire de Génétique Médicale, Faculté de Médecine, Université de Strasbourg, Strasbourg cedex, France.

Anorectal anomalies (ARA) are common congenital anomalies. The etiology of ARA is unclear and its pathogenesis is controversial. Cases with ARA often have other non-ARA-associated congenital anomalies. Read More

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December 2018

Systemic disrupting the homeostasis of tRNA isopentenyltransferase causes growth and development abnormalities in Bombyx mori.

Insect Mol Biol 2018 Dec 12. Epub 2018 Dec 12.

State Key Laboratory of Silkworm Genome Biology, Southwest University, No.2 Tiansheng Road, Beibei District, Chongqing, 400715, China.

Isopentenylation at A37 (i A37) of some transfer RNAs (tRNAs) plays a vital role in regulating the efficiency and fidelity of protein synthesis. However, whether insects, which are well-known for their highly efficient protein synthesis machinery, employ this regulatory mechanism remains uninvestigated. In the current study, a candidate tRNA isopentenyltransferase (IPT) gene with three alternative splicing isoforms (BmIPT1-BmIPT3) was identified in Bombyx mori (silkworm). Read More

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December 2018

Evidence-based skin care in preterm infants.

Pediatr Dermatol 2018 Dec 12. Epub 2018 Dec 12.

Department of Dermatology, University of California, San Diego School of Medicine, San Diego, California.

Most guidelines on neonatal skin care emphasize issues pertaining to healthy, term infants. Few address the complex task of skin barrier maintenance in preterm, very preterm, and extremely preterm infants. Here, we provide an evidence-based review of the literature on skin care of preterm neonates. Read More

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December 2018
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Predictive clinical factors for penetration and aspiration in Parkinson's disease.

Neurogastroenterol Motil 2018 Dec 11:e13524. Epub 2018 Dec 11.

Department of Voice, Speech and Hearing Disorders, Center for Clinical Neurosciences, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

Background: Do the current swallow-specific subquestions of neurological diagnostic tools reflect the objective swallowing function in Parkinson's disease (PD) patients or are clinical factors superior to predict critical aspiration?

Methods: In a cross-sectional, observational study a total of 119 Parkinson outpatients were examined clinically and by flexible-endoscopic evaluation of swallowing (FEES). Self-reported dysphagia by subquestions of the MDS-UPDRS and NMS questionnaire and history of subjective aspiration signs were collected.

Key Results: Nearly, all PD patients showed deglutition abnormalities in FEES (113/119) while only 12%-27% of them reported swallowing problems in the swallow-specific subquestions of neurological standard diagnostic tools (MDS-UPDRS and NMS-Quest), and the answers were heterogeneous and poorly reproducible. Read More

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December 2018
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