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Reply to HEP-20-1597.R2.

Mark Deneau

Hepatology 2021 Feb 26. Epub 2021 Feb 26.

Department of Gastroenterology, Hepatology and Nutrition, University of Utah, Salt Lake City, UT, USA.

Our study showed equipoise between oral vancomycin therapy (OVT) at 1500mg/day in patients >30kg, ursodeoxycholic acid (UDCA), and untreated observation. Children with the mildest disease as measured by the Sclerosing Cholangitis Outcomes in PEdiatrics (SCOPE) index(1) demonstrated the highest rates of biochemical improvement, regardless of management strategy. These data challenge the assumption that biomarkers like GGT rise progressively from diagnosis until end stage liver disease, and improve only with medication. Read More

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February 2021

[The phenomenology of depersonalization in depressive disorders].

Zh Nevrol Psikhiatr Im S S Korsakova 2020 ;120(12):37-41

Cerebromed Clinic, Yekaterinburg, Russia.

Objective: To establish the psychopathological characteristics of depersonalization disorders in patients with depressive states of varying severity and nosological affiliation.

Material And Methods: Fifty-five patients (39 women, mean age 36.89±12. Read More

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January 2021

Gene testing in Treacher Collins syndrome

Orv Hetil 2020 12 27;161(52):2201-2205. Epub 2020 Dec 27.

1 Pécsi Tudományegyetem, Általános Orvostudományi Kar, Klinikai Központ, Orvosi Genetikai Intézet, Pécs, József A. u. 7., 7623.

Összefoglaló. A Treacher Collins-szindróma a mandibulofacialis dysostosisok csoportjába tartozó kórkép. Főbb jellegzetességei a maxillaris és mandibularis dysostosis, az antimongoloid szemrések, az alsó szemhéj colobomája, illetve a vezetéses halláscsökkenés. Read More

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December 2020

[Study of the genotypic and hematological feature of hemoglobin H disease in West Guangxi area].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2020 Dec;37(12):1326-1330

Affiliated Hospital of Youjiang Minzu Medical College, Baise, Guangxi 533000, China.

Objective: To analyze the incidence, genotype and hematological feature of hemoglobin H (HbH) disease in West Guangxi region.

Methods: A total of 1246 patients diagnosed with HbH disease from January 2013 to December 2018 in our hospital were enrolled. Red blood cell parameters, hemoglobin electrophoresis, Gap-polymerase china reaction (Gap-PCR) and polymerase chain reaction-reverse dot blot (PCR-RDB) techniques were used to detect the 6 common α-thalassemia mutations and 17 common β-thalassemia mutations. Read More

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December 2020

CHARGE syndrome in the era of molecular diagnosis: Similar outcomes in those without coloboma or choanal atresia.

Eur J Med Genet 2021 Jan 12;64(1):104103. Epub 2020 Nov 12.

Cincinnati Children's Hospital Medical Center: Division of Human Genetics, United States; Cincinnati Children's Hospital Medical Center: Department of Pediatrics, University of Cincinnati College of Medicine, United States.

CHARGE syndrome (OMIM 214800) is a condition characterized by multisystem involvement with CHD7 pathogenic mutations leading to disease in the majority of patients. Discovery of the molecular cause of CHARGE unmasked a larger phenotypic spectrum than was previously appreciated. Within our interdisciplinary CHARGE syndrome program, we sought to characterize our CHD7-positive CHARGE cohort without coloboma or choanal atresia, highlighting complications and outcomes. Read More

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January 2021

Comparative assessment of multiple COVID-19 serological technologies supports continued evaluation of point-of-care lateral flow assays in hospital and community healthcare settings.

PLoS Pathog 2020 09 24;16(9):e1008817. Epub 2020 Sep 24.

Department of Infectious Diseases, School of Immunology & Microbial Sciences, King's College London, London, United Kingdom.

There is a clear requirement for an accurate SARS-CoV-2 antibody test, both as a complement to existing diagnostic capabilities and for determining community seroprevalence. We therefore evaluated the performance of a variety of antibody testing technologies and their potential use as diagnostic tools. Highly specific in-house ELISAs were developed for the detection of anti-spike (S), -receptor binding domain (RBD) and -nucleocapsid (N) antibodies and used for the cross-comparison of ten commercial serological assays-a chemiluminescence-based platform, two ELISAs and seven colloidal gold lateral flow immunoassays (LFIAs)-on an identical panel of 110 SARS-CoV-2-positive samples and 50 pre-pandemic negatives. Read More

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September 2020

Novel variants and genotype: Phenotype correlation in SSADH deficiency.

Neurology 2020 11 4;95(19):e2675-e2682. Epub 2020 Sep 4.

From the Department of Neurology (M.L.D., P.L.P.) and Neurodevelopmental Core (E.H.), Boston Children's Hospital, Harvard Medical School, MA; Metabolic Unit, Department of Clinical Chemistry, Vrije Universiteit Amsterdam (A.P., G.S.S.), and Department of Genetic Metabolic Diseases, Emma Children's Hospital, University of Amsterdam (G.S.S.), Amsterdam Neuroscience and Amsterdam Gastroenterology & Metabolism, Amsterdam University Medical Centers, the Netherlands; and College of Pharmacy, Department of Pharmacotherapy (J.-B.R., K.M.G.), Washington State University, Spokane.

Objective: To determine genotype-phenotype correlation in succinic semialdehyde dehydrogenase (SSADH) deficiency.

Methods: variants were studied with phenotype correlation in the SSADH natural history study. Assignment of gene variant pathogenicity was based on in silico testing and in vitro enzyme activity after site-directed mutagenesis and expression in HEK293 cells. Read More

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November 2020

Association between asthma, corticosteroids and allostatic load biomarkers: a cross-sectional study.

Thorax 2020 10 12;75(10):835-841. Epub 2020 Aug 12.

Centre for Infection and Immunity, Queen's University Belfast, Belfast, UK

Background: Allostatic load, a measure of early ageing or 'wear and tear' from adapting to environmental challenges, has been suggested as a framework with which to understand the stress-related disruption of multiple biological systems which may be linked to asthma. Considering the socioeconomic context is also critical given asthma and allostatic overload are more common in lower socioeconomic groups.

Aims: Estimate the relationship between allostatic load and its constituent biomarkers, asthma and corticosteroid prescribing while controlling for socioeconomic status. Read More

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October 2020

The Identification of Novel Biomarkers Is Required to Improve Adult SMA Patient Stratification, Diagnosis and Treatment.

J Pers Med 2020 Jul 29;10(3). Epub 2020 Jul 29.

Centre of Research in Myology, Institute of Myology, Sorbonne Université, INSERM, 75013 Paris, France.

Spinal muscular atrophy (SMA) is currently classified into five different subtypes, from the most severe (type 0) to the mildest (type 4) depending on age at onset, best motor function achieved, and copy number of the gene. The two recent approved treatments for SMA patients revolutionized their life quality and perspectives. However, upon treatment with Nusinersen, the most widely administered therapy up to date, a high degree of variability in therapeutic response was observed in adult SMA patients. Read More

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Homocysteic Acid in Blood Can Detect Mild Cognitive Impairment: A Preliminary Study.

J Alzheimers Dis 2020 ;77(2):773-780

KUDOH Clinic for Neurosurgery and Neurology, Ota-ku, Tokyo, Japan.

Background: In the treatment of Alzheimer's disease (AD), it is thought to be most effective to intervene at the earliest and mildest stages. For diagnosis at the earliest and mildest stages, it is desirable to use a biomarker that can be detected by a minimally invasive, cost-effective technique. Recent research indicates the potential clinical usefulness of plasma amyloid-β (Aβ) biomarkers in predicting brain Aβ burden at an individual level. Read More

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January 2020

Animal Naming Test - a simple and accurate test for diagnosis of minimal hepatic encephalopathy and prediction of overt hepatic encephalopathy.

Clin Exp Hepatol 2020 Jun 8;6(2):116-124. Epub 2020 May 8.

Postgraduate Institute of Medical Education and Research, Chandigarh, India.

Aim Of The Study: Minimal hepatic encephalopathy (MHE) is the mildest form in the spectrum of hepatic encepha-lopathy (HE). We compared the usefulness of the Psychometric Hepatic Encephalopathy Score (PHES) and Animal Naming Test (ANT) for the diagnosis of MHE and the prediction of the development of overt episodes of HE.

Material And Methods: 103 consecutive patients with liver cirrhosis without overt HE were subjected to PHES and ANT evaluation. Read More

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Spatial Functional Characteristics of East Asian Patients With Occult Macular Dystrophy (Miyake Disease); EAOMD Report No. 2.

Am J Ophthalmol 2021 01 21;221:169-180. Epub 2020 Jul 21.

Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan; Department of Ophthalmology, Keio University School of Medicine, Tokyo, Japan; UCL Institute of Ophthalmology, London, United Kingdom; Moorfields Eye Hospital, London, United Kingdom. Electronic address:

Purpose: To describe the functional phenotypic features of East Asian patients with RP1L1-associated occult macular dystrophy (ie, Miyake disease).

Design: An international multicenter retrospective cohort study.

Methods: Twenty-eight participants (53 eyes) with Miyake disease were enrolled at 3 centers (in Japan, China, and South Korea). Read More

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January 2021

The association between myositis-specific autoantibodies and muscle pathologies in idiopathic inflammatory myopathies.

Clin Rheumatol 2021 Feb 15;40(2):613-624. Epub 2020 Jul 15.

Department of Neurology, Xiangya Hospital Central South University, Xiangya Road, Changsha, 410008, China.

Objective: To investigate specific muscle pathologies of different kinds of myositis-specific autoantibodies (MSAs) in idiopathic inflammatory myopathy (IIM) patients.

Methods: One hundred eleven Chinese patients from Xiangya Hospital, Central South University diagnosed with IIMs according to European Neuromuscular Centre (ENMC) criteria were included. Clinical manifestation, myositis-specific autoantibodies, and histologic findings were evaluated to explore the pattern of necrosis, regeneration, and perifascicular atrophy, inflammatory cells in IIM patients with different MSAs. Read More

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February 2021

MRI Distinguishes Tumor Hypoxia Levels of Different Prognostic and Biological Significance in Cervical Cancer.

Cancer Res 2020 09 30;80(18):3993-4003. Epub 2020 Jun 30.

Department of Radiation Biology, Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway.

Tumor hypoxia levels range from mild to severe and have different biological and therapeutical consequences but are not easily assessable in patients. Here we present a method based on diagnostic dynamic contrast enhanced (DCE) MRI that reflects a continuous range of hypoxia levels in patients with tumors of cervical cancer. Hypoxia images were generated using an established approach based on pixel-wise combination of DCE-MRI parameters and , representing oxygen consumption and supply, respectively. Read More

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September 2020

Extension of the phenotypic spectrum of GLE1-related disorders to a mild congenital form resembling congenital myopathy.

Mol Genet Genomic Med 2020 08 14;8(8):e1277. Epub 2020 Jun 14.

GIPTIS (Genetics Institute for Patients, Therapies Innovation and Science), Marseille, France.

Background: GLE1 (GLE1, RNA Export Mediator, OMIM#603371) variants are associated with severe autosomal recessive motor neuron diseases, that are lethal congenital contracture syndrome 1 (LCCS1, OMIM#253310) and congenital arthrogryposis with anterior horn cell disease (CAAHD, OMIM#611890). The clinical spectrum of GLE1-related disorders has been expanding these past years, including with adult-onset amyotrophic lateral sclerosis (ALS) GLE1-related forms, especially through the new molecular diagnosis strategies associated with the emergence of next-generation sequencing (NGS) technologies. However, despite this phenotypic variability, reported congenital or ALS adult-onset forms remain severe, leading to premature death. Read More

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A Biomarker for Concussion: The Good, the Bad, and the Unknown.

J Appl Lab Med 2020 01;5(1):170-182

Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.

Background: Traumatic brain injury (TBI) is a significant cause of morbidity, mortality, and disability in the US, with >2.8 million patients presenting to the emergency department (ED) annually. However, the diagnosis of TBI is challenging and presents a number of difficulties, particularly at the mildest end of the spectrum: concussion. Read More

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January 2020

Genotype-phenotype correlation in children with hereditary spherocytosis.

Br J Haematol 2020 11 20;191(3):486-496. Epub 2020 May 20.

Department of Paediatrics, Division of Haematology/Oncology, Hospital for Sick Children, Toronto, Ontario, Canada.

Hereditary spherocytosis (HS) is a common inherited haemolytic anaemia attributed to disturbances in five different red cell membrane proteins. We performed a retrospective study of 166 children with HS and describe the clinical phenotype according to the genotype. In 160/166 (97%) children with HS a disease-causing mutation was identified. Read More

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November 2020

Poly(selenoviologen)-Assembled Upconversion Nanoparticles for Low-Power Single-NIR Light-Triggered Synergistic Photodynamic and Photothermal Antibacterial Therapy.

ACS Appl Mater Interfaces 2020 Jun 1;12(23):26432-26443. Epub 2020 Jun 1.

Frontier Institute of Science and Technology, State Key Laboratory for Strength and Vibration of Mechanical Structures, Xi'an Jiaotong University, Xi'an, Shaanxi Province 710054, China.

The development of a highly effective photosensitizer (PS) that can be activated with a low-power single light is a pressing issue. Herein, we report a PS for synergistic photodynamic and photothermal therapy constructed through self-assembly of poly(selenoviologen) on the surface of core-shell NaYF:Yb/Tm@NaYF upconversion nanoparticles. The hybrid UCNPs/PSeV PS showed strong ROS generation ability and high photothermal conversion efficiency (∼52. Read More

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PAX6 Genotypic and Retinal Phenotypic Characterization in Congenital Aniridia.

Invest Ophthalmol Vis Sci 2020 05;61(5):14


Purpose: To investigate the association between PAX6 genotype and macular morphology in congenital aniridia.

Methods: The study included 37 participants (15 males) with congenital aniridia (aged 10-72 years) and 58 age-matched normal controls (18 males). DNA was isolated from saliva samples. Read More

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Persistent asymptomatic or mild symptomatic hyperCKemia due to mutations in ANO5: the mildest end of the anoctaminopathies spectrum.

J Neurol 2020 Sep 4;267(9):2546-2555. Epub 2020 May 4.

Department of Neurology, Hospital Universitario 12 de Octubre, Avda. de Córdoba, s/n, 28041, Madrid, Spain.

Background: The ANO5 gene encodes for anoctamin-5, a chloride channel involved in muscle cell membrane repair. Recessive mutations in ANO5 are associated with muscular diseases termed anoctaminopathies, which are characterized by proximal or distal weakness, or isolated hyperCKemia. We present the largest series of patients with asymptomatic/paucisymptomatic anoctaminopathy reported so far, highlighting their clinical and radiological characteristics. Read More

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September 2020

The Cauda Scale - Validation for Clinical Practice.

Br J Neurosurg 2020 Aug 20;34(4):453-456. Epub 2020 Apr 20.

Department of Spinal Surgery, Salford Royal NHS Foundation Trust, Stott Lane, UK.

The purpose of this study was to validate the cauda scale (TCS) in an external population. TCS was proposed as a tool to be used to predict the likelihood of cauda equina compression. We analysed the presenting condition of consecutive patients attending the emergency department undergoing a magnetic resonance scan with a clinical suspicion of cauda equina syndrome (CES). Read More

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Minimal Hepatic Encephalopathy.

Clin Liver Dis 2020 05 2;24(2):209-218. Epub 2020 Mar 2.

Center for Liver Diseases and Masses, Robert Wood Johnson Medical School, Clinical Academic Building (CAB), 125 Paterson Street, Suite 5100B, New Brunswick, NJ 08901, USA.

Minimal hepatic encephalopathy, previously called subclinical hepatic encephalopathy, represents the earliest and mildest form of hepatic encephalopathy. It is the most under-recognized and underdiagnosed form of hepatic encephalopathy. Although there is no diagnostic gold standard, validated testing modalities have been devised to detect this neurocognitive complication. Read More

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Evaluation of the Relative Mildness of Commercial Sensitive Skin and Baby Laundry Detergents.

Skinmed 2020 1;18(1):14-16. Epub 2020 Jan 1.

Henkel Corporation, Trumbull, CT.

Laundry detergents that are free of fragrances and dyes should be recommended to patients with sensitive skin. To ensure mildness of these products, manufacturers typically conduct patch testing. A new method, which is more discerning than patch testing, called Detergent Mildness Index (DMI), has been described previously. Read More

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December 2020

Prevalence of minimal hepatic encephalopathy among patients with chronic liver disease in Ilorin, Nigeria.

Ghana Med J 2019 Dec;53(4):299-303

Department of Behavioural Sciences, University of Ilorin Teaching Hospital, Ilorin. Nigeria.

Background: Minimal Hepatic encephalopathy is the mildest form of Hepatic Encephalopathy which presents with significant cognitive impairment and affectation of activities of daily living. The literature is scanty on the prevalence of minimal hepatic encephalopathy in Nigerians with chronic liver disease.

Aim: This study aimed at determining the prevalence of minimal hepatic encephalopathy among patients with chronic liver disease using neuro-psychometric tests. Read More

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December 2019

Can miR-34a be suitable for monitoring sensorineural hearing loss in patients with mitochondrial disease? A case series.

Int J Neurosci 2020 Dec 20;130(12):1272-1277. Epub 2020 Feb 20.

Otolaryngology Department, University of Perugia, Perugia, Italy.

We aimed at evaluating the feasibility of using MicroRNA (miR)-34a and miR-29b to detect inner ear damage in patients with mitochondrial disease (MD) and sensorineural hearing loss (SNHL). Three patients with MD and SNHL and seven healthy control subjects were included in this case series. MD patients underwent pure tone audiometry (PTA), distortion product otoacoustic emission (DPOAE) and auditory brain response tests to investigate the specific cochlear and retrocochlear functions; control patients underwent PTA. Read More

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December 2020

Is Antarctica under threat of alien species invasion?

Glob Chang Biol 2020 Jan 24. Epub 2020 Jan 24.

Institute of Biochemistry and Biophysics Polish Academy of Sciences, Warsaw, Poland.

The last decade has seen a rapid development of scientific, logistic and tourist activities, especially in the Antarctic region with the mildest climatic conditions: the Antarctic Peninsula. This region is also exhibiting rapid regional warming and all of the already diagnosed alien species in the Antarctic Treaty Area were found within the Antarctic Peninsula. Identifying potential invasive species that can threaten this pristine area of the Earth helps us to take specific preventive actions. Read More

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January 2020

"Can do, don't do" are not the lazy ones: a longitudinal study on physical functioning in patients with COPD.

Respir Res 2020 Jan 20;21(1):27. Epub 2020 Jan 20.

Pulmonary Division, University Hospital Zurich, Raemistrasse 100, 8091, Zurich, Switzerland.

Background And Objective: Reduced physical capacity (PC) and physical activity (PA) are common in COPD patients and associated with poor outcome. However, they represent different aspects of physical functioning and interventions do not affect them in the same manner. To address this, a new PC-PA quadrant concept was recently generated to identify clinical characteristics of sub-groups of physical functioning. Read More

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January 2020