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Prenatal case of Simpson-Golabi-Behmel syndrome with a de novo 370Kb-sized microdeletion of Xq26.2 compassing partial GPC3 gene and review.

Mol Genet Genomic Med 2021 Jul 22:e1750. Epub 2021 Jul 22.

Department of Medical Genetics, Hunan Provincial Maternal and Child Health Care Hospital, Changsha, Hunan, China.

Background: Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is a rare X-linked recessive disorder characterized by pre- and postnatal overgrowth and a broad spectrum of anomalies including craniofacial dysmorphism, heart defects, renal, and genital anomalies. Due to the ultrasound findings are not pathognomonic for this syndrome, most clinical diagnosis of SGBS1 are made postnatally.

Methods: A pregnant woman with abnormal prenatal sonographic findings was advised to perform molecular diagnosis. Read More

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Continuous monitoring of colonoscopy performance in the Netherlands: first results of a nationwide registry.

Endoscopy 2021 Jul 22. Epub 2021 Jul 22.

Gastroenterology & Hepatology, Amsterdam University Medical Centres, Amsterdam, Netherlands.

Background: To optimize colonoscopy quality, several performance measures have been developed. These are usually assessed without distinction between the indications for colonoscopy. This study aims to assess the feasibility of linkage between two registries: a national colonoscopy registry and a national registry for adverse events of gastrointestinal endoscopies in the Netherlands, and to describe the results of colonoscopy quality per indication. Read More

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The Management of Orbital Roof Fractures and Defects: A Review.

Ophthalmic Plast Reconstr Surg 2021 Jul 21. Epub 2021 Jul 21.

Orbital and Oculoplastics Department, Sussex Eye Hospital, Brighton and Sussex University Hospitals NHS Trust, Brighton, United Kingdom Department of Neurosurgery, Brighton and Sussex University Hospitals NHS Trust, Brighton, United Kingdom Department of Radiology, Brighton and Sussex University Hospitals NHS Trust, Brighton, United Kingdom Department of Head & Neck Prosthetics, Queen Victoria Hospital NHS Foundation Trust, East Grinstead, United Kingdom.

Purpose: To explore the anatomy, etiopathogenesis, diagnosis and classification, current evidence on intervention and the surgical management of orbital roof fractures and defects (ORFD) for oculoplastic surgeons presented with such cases.

Methods: A review of the current literature through the MEDLINE database using the following search terms: "orbital roof fracture (+treatment/management)," "orbital roof defect (+treatment/management)," "orbital roof erosion (+treatment/management)," "orbital roof repair," "orbital roof," "orbital fracture," "pediatric orbital roof (defect/fracture/erosion)," "orbital anatomy," and "orbital roof anatomy" was conducted. As relatively little has been published on this topic, inclusion criteria were broad and peer-reviewed articles judged to be of clinical importance, relevant to the aims of this review, were included. Read More

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Accelerated Progression of Diabetic Retinopathy in a Patient with Acquired Lipodystrophy Following Hematopoietic Stem Cell Transplantation.

Retin Cases Brief Rep 2021 Jul 16. Epub 2021 Jul 16.

Department of Ophthalmology, Kurume University School of Medicine, Kurume, Japan.

Purpose: To report a case of bilateral proliferative diabetic retinopathy and lipemia retinalis in a patient with acquired lipodystrophy.

Methods: A retrospective case report.

Results: A 23-year-old woman with a diagnosis of acquired lipodystrophy was referred for ophthalmic evaluation. Read More

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Prediction and Prevention of Spontaneous Preterm Birth: ACOG Practice Bulletin, Number 234.

Authors:

Obstet Gynecol 2021 Aug;138(2):e65-e90

Preterm birth is among the most complex and important challenges in obstetrics. Despite decades of research and clinical advancement, approximately 1 in 10 newborns in the United States is born prematurely. These newborns account for approximately three-quarters of perinatal mortality and more than one half of long-term neonatal morbidity, at significant social and economic cost (1-3). Read More

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Prediction and Prevention of Spontaneous Preterm Birth: ACOG Practice Bulletin Summary, Number 234.

Authors:

Obstet Gynecol 2021 Aug;138(2):320-323

Preterm birth is among the most complex and important challenges in obstetrics. Despite decades of research and clinical advancement, approximately 1 in 10 newborns in the United States is born prematurely. These newborns account for approximately three-quarters of perinatal mortality and more than one half of long-term neonatal morbidity, at significant social and economic cost (1-3). Read More

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Risk Factors for Retinopathy of Prematurity in the Netherlands: A Comparison of Two Cohorts.

Neonatology 2021 Jul 22:1-8. Epub 2021 Jul 22.

Wilhelmina Children's Hospital, Utrecht, The Netherlands.

Introduction: Retinopathy of prematurity (ROP) remains an important cause for preventable blindness. Aside from gestational age (GA) and birth weight, risk factor assessment can be important for determination of infants at risk of (severe) ROP.

Methods: Prospective, multivariable risk-analysis study (NEDROP-2) was conducted, including all infants born in 2017 in the Netherlands considered eligible for ROP screening by pediatricians. Read More

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Validation of the Mini-Addenbrooke's Cognitive Examination in Mild Cognitive Impairment in Arabic Speakers.

Dement Geriatr Cogn Disord 2021 Jul 22:1-5. Epub 2021 Jul 22.

Geriatrics and Gerontology Department, Ain Shams University, Cairo, Egypt.

Introduction: Mild cognitive impairment (MCI) represents a target for early detection and intervention in dementia, yet there is a shortage of validated screening tools in Arabic to diagnose MCI. The mini-Addenbrooke's Cognitive Examination (m-ACE) is a brief cognitive battery that is scored out of 30 and can be administered in under 5 min providing a quick screening tool for assessment of cognition.

Objective: We aimed to validate the m-ACE in Arabic speakers in Egypt with MCI to provide cut-off scores. Read More

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Diagnostic potential of trace metals concentration in expressed prostatic secretion and serum of patients with category IV prostatitis.

J Trace Elem Med Biol 2021 Jul 8;68:126819. Epub 2021 Jul 8.

Scientific Research Center, Guilin Medical University, Guilin, Guangxi, China; Guangxi Health Commission Key Laboratory of Disease Proteomics Research, China. Electronic address:

Background: The National Institutes of Health (NIH) category IV prostatitis is a painless prostate gland inflammation, just as its name implies, this type of prostatitis is related with inflammation of the prostate, but most men are not conscious of it. However, category IV prostatitis is fairly common in general populations and reported having indirect relationships with prostate cancer.

Method: We analyzed the concentration of zinc (Zn), copper (Cu), calcium (Ca) and magnesium (Mg) in expressed prostatic secretion (EPS) and serum of patients with category IV prostatitis and healthy controls, investigating the diagnostic potential of different metals in category IV prostatitis using a flame atomic absorption spectrometer (FAAS). Read More

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Self-reported reasons for colonoscopy among adults aged 45-49 versus 50 years and older from 2010-2018.

Cancer Epidemiol 2021 Jul 19;74:101984. Epub 2021 Jul 19.

Department of Radiation Oncology, University of Texas Southwestern, Dallas, TX, USA. Electronic address:

Background: In May of 2018, the American Cancer Society lowered the age of colorectal cancer (CRC) screening initiation from 50 to 45 years and in October 2020, United States Preventive Services Task Force published draft guidelines also lowering age of screening initiation to 45 years. Evaluating guideline adherence is needed; however, the majority of prior research on cancer screening do not distinguish whether colonoscopy was performed for true screening purposes or for post-symptomatic diagnosis.

Methods: Using data from the National Health Interview Survey between 2010 to mid-2018, we assessed response to the question "What was the MAIN reason you had [last] colonoscopy?" stratified by age (45-49 versus 50+ years). Read More

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Ant colony optimization with Cauchy and greedy Levy mutations for multilevel COVID 19 X-ray image segmentation.

Comput Biol Med 2021 Jul 3;136:104609. Epub 2021 Jul 3.

Department of Intensive Care Unit, The First Affiliated Hospital of Wenzhou Medical University, Wenzhou, China; Key Laboratory of IntelligentTreatment and Life Support for Critical Diseases of Zhejiang Provincial, Wenzhou, China; Wenzhou Key Laboratory of Critical Care and Artificial Intelligence, Wenzhou, China. Electronic address:

This paper focuses on the study of multilevel COVID-19 X-ray image segmentation based on swarm intelligence optimization to improve the diagnostic level of COVID-19. We present a new ant colony optimization with the Cauchy mutation and the greedy Levy mutation, termed CLACO, for continuous domains. Specifically, the Cauchy mutation is applied to the end phase of ant foraging in CLACO to enhance its searchability and to boost its convergence rate. Read More

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Tissue engineered artificial liver model based on viscoelastic hyaluronan-collagen hydrogel and the effect of EGCG intervention on ALD.

Colloids Surf B Biointerfaces 2021 Jul 16;206:111980. Epub 2021 Jul 16.

National Engineering Research Center for Biomaterials, College of Biomedical Engineering, Sichuan University, Chengdu, 610064, Sichuan, China.

In alcoholic liver disease (ALD) research, animal models, as one of the most popular methods to explore pathology and therapeutic drug screening, show the limitations of expensive cost and ethic, as well as long modeling time. To minimize the use of animal models in ALD research, an artificial liver model has been developed by incorporating HepG2 cells into hydrogel matrix based on difunctional hyaluronan and collagen. And on this basis an alcohol-induced ALD model in vitro by adding alcohol in the engineering process has been established. Read More

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Leveraging unsupervised image registration for discovery of landmark shape descriptor.

Med Image Anal 2021 Jul 9;73:102157. Epub 2021 Jul 9.

Scientific Computing and Imaging Institute, 72 Central Campus Dr, University of Utah, Salt Lake City, Utah-84112, USA; School of Computing, 50 Central Campus Dr, University of Utah, Salt Lake City, Utah-84112, USA.

In current biological and medical research, statistical shape modeling (SSM) provides an essential framework for the characterization of anatomy/morphology. Such analysis is often driven by the identification of a relatively small number of geometrically consistent features found across the samples of a population. These features can subsequently provide information about the population shape variation. Read More

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The Effects of Chronic Lymphocytic Thyroiditis on Clinicopathological Factors In Papillary Thyroid Cancer.

Endocr Pract 2021 Jul 19. Epub 2021 Jul 19.

Department of Endocrinology and Metabolism, University of Health Sciences, Diskapi Yildirim Beyazit Training and Research Hospital, Ankara, Turkey.

Introduction: This study evaluated the impact of chronic lymphocytic thyroiditis (CLT) on clinicopathological parameters, prognostic outcome and initial treatment responses in patients with papillary thyroid cancer (PTC).

Methods: A retrospective review was made of 1409 patients with PTC, comprising 443 pathology proven PTC patients with CLT and 447 PTC patients without CLT.

Results: The median follow-up time was 58 (8-380) months and the median age at the time of diagnosis was 43 years. Read More

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Establishing amoxicillin allergy in children through direct graded oral challenge (GOC): evaluating risk factors for positive challenges, safety, and risk of cross reactivity to cephalosporines.

J Allergy Clin Immunol Pract 2021 Jul 19. Epub 2021 Jul 19.

Division of Allergy and Clinical Immunology, Department of Pediatrics, Montreal Children's Hospital, Montreal, Quebec, Canada; Infectious Diseases and Immunity in Global Health Program, The Research Institute of the McGill University Health Centre, McGill University, Montreal, Quebec, Canada.

Background: Data on the diagnostic properties of direct oral challenges without the use of skin tests in children with suspected amoxicillin allergy is sparse.

Objective: Assess the use of direct oral challenges.

Methods: A cohort study was conducted between March 2013 and March 2020, in Montreal and Winnipeg. Read More

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Dermoscopic findings of genital keratotic lesions: Bowenoid papulosis, seborrheic keratosis, and condyloma acuminatum.

Photodiagnosis Photodyn Ther 2021 Jul 19:102448. Epub 2021 Jul 19.

Department of Dermatology, Kosin University College of Medicine, Busan, South Korea. Electronic address:

Dermatologists often encounter keratotic or warty lesions in the genital area. Establishing a clear diagnosis may seem challenging, particularly when the differential diagnosis includes bowenoid papulosis, seborrheic keratosis, and condyloma acuminatum. This study aimed to compare the dermoscopic features of bowenoid papulosis, seborrheic keratosis, and condyloma acuminatum in the genital area. Read More

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Non-structural protein 1 from Zika virus: Heterologous expression, purification, and potential for diagnosis of Zika infections.

Int J Biol Macromol 2021 Jul 19;186:984-993. Epub 2021 Jul 19.

Biotechnology and Molecular Biology Laboratory, State University of Ceara, Fortaleza, Ceara, Brazil. Electronic address:

Zika virus (ZIKV) infections were associated with neurological disorders only after the Brazilian outbreak in 2015. The lack of vaccines and precise diagnosis requires a precise method to detect ZIKV infection. This study aimed to evaluate three ZIKV recombinant proteins for the development of ZIKV infections. Read More

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Seeds of their own destruction: Dominant-negative peptide screening yields functional insight and therapeutic leads.

Cell Syst 2021 Jul;12(7):691-693

Donnelly Centre and Departments of Molecular Genetics and Computer Science, University of Toronto and Lunenfeld-Tanenbaum Research Institute, Sinai Health, Toronto, ON, Canada. Electronic address:

Systematic, high-throughput screening for "dominant-negative" protein fragments is an emerging method for mapping functional regions of the parental protein in vivo. In this issue of Cell Systems, Ford et al. apply this approach to 65 cancer drivers, providing functional insights and demonstrating therapeutic potential for several dominant-negative peptides. Read More

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Covid-19 and Risk of Venous Thromboembolism in Ethnically Diverse Populations.

Chest 2021 Jul 19. Epub 2021 Jul 19.

Department of Medicine, University of California, San Francisco, San Francisco, CA USA.

Background: Limited existing data suggest the novel coronavirus disease 2019 (Covid-19) may increase risk for venous thromboembolism (VTE) but information from large, ethnically diverse populations with appropriate controls are lacking.

Research Question: Does the rate of VTE among adults hospitalized with Covid-19 differ from matched hospitalized controls without Covid-19?

Study Design And Methods: We conducted a retrospective study among hospitalized adults with laboratory-confirmed Covid-19 and hospitalized adults without evidence of Covid-19 matched on age, gender, race/ethnicity, acute illness severity, and month of hospitalization between February-August 2020 from two integrated healthcare delivery systems with 36 hospitals. Outcomes included VTE (deep venous thrombosis or pulmonary embolism ascertained using diagnosis codes combined with validated natural language processing algorithms applied to electronic health records) and death from any cause at 30 days. Read More

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Prenatal exposure to per- and polyfluoroalkyl substances (PFAS) and associations with attention-deficit/hyperactivity disorder and autism spectrum disorder in children.

Environ Res 2021 Jul 19:111692. Epub 2021 Jul 19.

Division of Mental and Physical Health, Norwegian Institute of Public Health, PO Box 222, Skøyen, N-0213, Oslo, Norway.

Background: Prenatal exposure to per- and polyfluoroalkyl substances (PFAS) may be a risk factor for neurodevelopmental deficits and disorders, but evidence is inconsistent.

Objectives: We investigated whether prenatal exposure to PFAS were associated with childhood diagnosis of attention-deficit/hyperactivity disorder (ADHD) or autism spectrum disorder (ASD).

Methods: This study was based on the Norwegian Mother, Father and Child Cohort Study and included n = 821 ADHD cases, n = 400 ASD cases and n = 980 controls. Read More

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Anti-microbial antibody response is associated with future onset of Crohn's disease independent of biomarkers of altered gut barrier function, subclinical inflammation, and genetic risk.

Gastroenterology 2021 Jul 19. Epub 2021 Jul 19.

Zane Cohen Centre for Digestive Diseases, Mount Sinai Hospital, Toronto, Ontario, Canada; Division of Gastroenterology & Hepatology, Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada. Electronic address:

Background: /Aim: Altered host immune reactivity to microbial antigens is hypothesized to trigger the onset of Crohn's disease (CD). We aimed to assess whether increased serum anti-microbial antibody response in asymptomatic first-degree relatives (FDR) of CD patients is an independent risk factor for future CD development.

Methods: We measured host serum antibody response to six microbial antigens at enrollment (Prometheus ELISA test: ASCA IgA/IgG, anti-OmpC, anti-A4-Fla2, anti-FlaX, anti-CBir1) and derived the sum of positive antibodies (AS). Read More

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Prevalence of hyperventilation in patients with asthma.

J Asthma 2021 Jul 22:1-11. Epub 2021 Jul 22.

Radboud university medical center, Radboud Institute for Health Sciences, Department of Respiratory Diseases, 6525 GA Nijmegen, The Netherlands.

Objective: Asthma is frequently accompanied by dysfunctional breathing of which hyperventilation has been recognized as a subtype. The prevalence of hyperventilation in stable asthma has been scantily studied using blood gas analysis. Hence, a reliable estimate of its prevalence is lacking. Read More

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Exploring the association Between Cardiovascular Health measured with CANHEART model and early cognitive impairment in middle-aged population.

Epidemiol Health 2021 Jul 13:e2021044. Epub 2021 Jul 13.

Yonsei University College of Medicine, Seoul, Korea.

Background: Both cardiovascular health (CVH) and inflammation associated with cognition, and inflammation also associated with cardiovascular health. However, related information in the Korean population is limited. The objective of our study was to confirm the influence of inflammation on the association between CVH and cognition in cross-sectional design. Read More

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Individual variability in human urinary metabolites identifies age-related, body mass index-related, and sex-related biomarkers.

Mol Genet Genomic Med 2021 Jul 22:e1738. Epub 2021 Jul 22.

Materia Medica Development Group, Institute of Medicinal Chemistry, Lanzhou University School of Pharmacy, Lanzhou, China.

Background: Metabolites present in human urine can be influenced by individual physiological parameters (e.g., body mass index [BMI], age, and sex). Read More

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The effect of esketamine in patients with treatment-resistant depression with and without comorbid anxiety symptoms or disorder.

Depress Anxiety 2021 Jul 22. Epub 2021 Jul 22.

Department of Neuroscience, Janssen Research & Development, LLC, San Diego, California, USA.

Background: Comorbid anxiety is generally associated with poorer response to antidepressant treatment. This post hoc analysis explored the efficacy of esketamine plus an antidepressant in patients with treatment-resistant depression (TRD) with or without comorbid anxiety.

Methods: TRANSFORM-2, a double-blind, flexible-dose, 4-week study (NCT02418585), randomized adults with TRD to placebo or esketamine nasal spray, each with a newly-initiated oral antidepressant. Read More

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Outcomes for infants with congenital diaphragmatic hernia: A single campus review with low extracorporeal membrane oxygenation utilisation.

J Paediatr Child Health 2021 Jul 22. Epub 2021 Jul 22.

Grace Centre for Newborn Intensive Care, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.

Aim: To report the outcome for infants with congenital diaphragmatic hernia (CDH) and identify clinical factors affecting outcome from a tertiary perinatal surgical campus where extracorporeal membrane oxygenation (ECMO) is available however rarely utilised.

Methods: A retrospective cohort study of infants with CDH born in a co-located perinatal neonatal intensive care unit (NICU) or retrieved into and managed at a surgical NICU: 2003-2018.

Results: One hundred and fifty-nine infants with CDH were identified. Read More

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cVEMP and VAT for the diagnosis of vestibular migraine.

Eur J Clin Invest 2021 Jul 22:e13657. Epub 2021 Jul 22.

Department 4 of Neurology, Cangzhou Central Hospital, Cangzhou, 061000, Hebei, China.

Background: Although the diagnostic criteria of vestibular migraine (VM) have already been defined, various clinical manifestations of VM and the lack of pathognomonic biomarker result in high rate of misdiagnosis and mismanagement. A timely and accurate diagnosis tool for evaluation of VM is highly needed.

Objective: The current study aims to investigate the potential feasibility of cervical vestibular evoked myogenic potential (cVEMP) and vestibular autorotation test (VAT) as a diagnosis tool for VM. Read More

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Discriminatory capacity of obesity indicators as predictors of high liver fat in US adolescents.

Eur J Clin Invest 2021 Jul 22:e13654. Epub 2021 Jul 22.

Navarrabiomed, Complejo Hospitalario de Navarra (CHN)-Universidad Pública de Navarra (UPNA), IDISNA, 31008, Pamplona, Spain.

Background: The aims of this study was to assess the potential of sixteen anthropometric, body composition and endocrine indexes as predictors of high liver fat and determine the most appropriate cutoff points in US adolescents.

Methods: A cross-sectional study was conducted on a population of 816 adolescents aged 12-17years. The FibroScan®502V2 device was used to estimate the controlled attenuation parameter (CAP). Read More

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Factors associated with the use and composition of two-drug regimens in a large single-centre HIV cohort.

J Antimicrob Chemother 2021 Jul 22. Epub 2021 Jul 22.

Hospital Clínic-IDIBAPS, University of Barcelona, Barcelona, Spain.

Objectives: We aimed to assess the clinical characteristics associated with the use of two-drug regimens (2DRs) and the factors associated with specific antiretrovirals in 2DRs in a large single-centre HIV cohort.

Methods: Retrospective analysis of demographics, HIV characteristics and AIDS events, antiretroviral prescription, virological failure and genotypic resistance testing, and laboratory results from all adult people with HIV (PWH) prospectively followed at the Hospital Clinic of Barcelona who were receiving a 3DR or a 2DR in January 2020. We assessed factors associated with the probability of receiving 2DRs relative to three-drug regimens (3DRs) using a logistic regression model, controlling for age, sex and year of HIV diagnosis. Read More

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