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Investigation of monogenic causes of familial breast cancer: data from the BEACCON case-control study.

NPJ Breast Cancer 2021 Jun 11;7(1):76. Epub 2021 Jun 11.

Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, Melbourne, VIC, Australia.

Breast cancer (BC) has a significant heritable component but the genetic contribution remains unresolved in the majority of high-risk BC families. This study aims to investigate the monogenic causes underlying the familial aggregation of BC beyond BRCA1 and BRCA2, including the identification of new predisposing genes. A total of 11,511 non-BRCA familial BC cases and population-matched cancer-free female controls in the BEACCON study were investigated in two sequencing phases: 1303 candidate genes in up to 3892 cases and controls, followed by validation of 145 shortlisted genes in an additional 7619 subjects. Read More

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Professional legislation knowledge of dentists and psychological effects of negligence.

J Forensic Leg Med 2021 Jun 8;81:102199. Epub 2021 Jun 8.

Student Research Committee, School of Dentistry, Isfahan University of Medical Sciences, Isfahan, Iran.

Introduction: The aim of the present study was to evaluate the extent to which a group of general dentists and specialists had knowledge of the professional laws and psychological effects of negligence on them.

Materials And Methods: The sample in this cross-sectional study consisted of 400 dentists (General dentists and specialists) in Isfahan city, Iran. Having designed the questionnaire and confirmed its validity and reliability, we published online to be completed by the dentists. Read More

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Characterisation of patients with supine nighttime reflux: observations made with prolonged wireless oesophageal pH monitoring.

Aliment Pharmacol Ther 2021 Jun 11. Epub 2021 Jun 11.

Department of Gastroenterology & Hepatology, Amsterdam Gastroenterology and Metabolism, University Medical Centers Amsterdam, Amsterdam, the Netherlands.

Background: Although nighttime reflux symptoms are common, the presence of nocturnal reflux is seldom confirmed with a standard 24 hours pH study.

Aim: To study patients with supine nighttime reflux symptoms using prolonged wireless pH monitoring.

Methods: In this retrospective study, patients with typical acid reflux symptoms were studied using 96-h pH monitoring. Read More

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A Rare Case of Isolated Intramedullary Spinal Cord Cysticercosis.

Cureus 2021 May 6;13(5):e14864. Epub 2021 May 6.

Department of Cardiology, U N Mehta Institute of Cardiology and Research Centre, Ahmedabad, IND.

Neurocysticercosis is a parasitic disease often involving the central nervous system by and is commonly seen in developing countries. The majority of these cases have either isolated brain involvement or combined involvement of the brain and spinal cord. Isolated involvement of the spinal cord is very rare. Read More

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Audiologic Phenotype and Progression in Pediatric STRC-Related Autosomal Recessive Hearing Loss.

Laryngoscope 2021 Jun 10. Epub 2021 Jun 10.

Department of Otolaryngology and Communication Enhancement, Boston Children's Hospital, Boston, Massachusetts, U.S.A.

Objectives: Sensorineural hearing loss (SNHL) is a common sensory deficit affecting pediatric populations. The majority of pediatric SNHL is genetic in etiology, with over 123 identified nonsyndromic causative genes. One such gene is STRC, which has been identified as the second most frequent autosomal recessive nonsyndromic gene associated with SNHL in multiple populations. Read More

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Emergent Admissions to the Epilepsy Monitoring Unit in the Setting of COVID-19 Pandemic-related, State-mandated Restrictions: Clinical Decision Making and Outcomes.

Neurodiagn J 2021 Jun 10:1-9. Epub 2021 Jun 10.

Department of NeurologyUniversity of Texas Southwestern Medical Center, Dallas, Texas.

Due to the coronavirus disease 2019 (COVID-19) pandemic, the state of Texas-limited elective procedures to conserve beds and personal protective equipment (PPE); therefore, between March 22 and May 18, 2020, admission to the epilepsy monitoring unit (EMU) was limited only to urgent and emergent cases. We evaluated clinical characteristics and outcomes of these patients who were admitted to the EMU. Nineteen patients were admitted (one patient twice) with average age of 36. Read More

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Can emergency nurses safely and effectively insert fascia iliaca blocks in patients with a fractured neck of femur? A prospective cohort study in an Australian emergency department.

J Clin Nurs 2021 Jun 9. Epub 2021 Jun 9.

Nursing Research Institute, St Vincent's Health Network Sydney, St Vincent's Hospital Melbourne and Australian Catholic University, Darlinghurst, NSW, Australia.

Aims And Objectives: To compare the effectiveness and safety of ultrasound-guided fascia iliaca block (FIB) insertion in patients with fractured neck of femur by trained emergency nurses with insertion by doctors.

Background: The FIB is an effective and safe form of analgesia for patients with hip fracture presenting to the emergency department (ED). While it has traditionally been inserted by medical doctors, no evidence exists comparing the effectiveness and safety of FIB insertion by nurses compared with doctors. Read More

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Pregnancy-related acute kidney injury at high altitude: a retrospective observational study in a single center.

BMC Nephrol 2021 Jun 9;22(1):215. Epub 2021 Jun 9.

Department of Nephrology, Shanghai Ruijin Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.

Background: Pregnancy-related acute kidney injury (Pr-AKI) is associated with maternal and fetal morbidity and mortality. There are few studies focusing on Pr-AKI at high altitude in the literature.

Objectives: to investigate the incidence, etiology, clinical features and maternal-fetal outcomes of Pr-AKI in women living at high altitude. Read More

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SARS-CoV-2 diagnosis: a single-centre experience.

J Med Life 2021 Mar-Apr;14(2):257-261

Department of Immunology and Immunology of Transplant, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.

The coronavirus disease 2019 (COVID-19) was declared a pandemic by the World Health Organization (WHO) on the 11 of March 2020. In Romania, there have been 983,217 confirmed cases and 24,386 deaths. We aim to show our experience at the Fundeni Clinical Institute in the diagnosis of Severe Acute Respiratory Syndrome Coronavirus-2 (SARS-CoV-2) infection in both patients and health care personnel. Read More

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The secondary transmission pattern of COVID-19 based on contact tracing in Rwanda.

BMJ Glob Health 2021 06;6(6)

BioStat, Hasselt Biostatistics and statistical Bioinformatics Center, Diepenbeek, Limburg, Belgium.

Introduction: COVID-19 has shown an exceptionally high spread rate across and within countries worldwide. Understanding the dynamics of such an infectious disease transmission is critical for devising strategies to control its spread. In particular, Rwanda was one of the African countries that started COVID-19 preparedness early in January 2020, and a total lockdown was imposed when the country had only 18 COVID-19 confirmed cases known. Read More

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Suspect and target screening of emerging pesticides and their transformation products in an urban river using LC-QTOF-MS.

Sci Total Environ 2021 May 24;790:147978. Epub 2021 May 24.

Key Laboratory of Drinking Water Science and Technology, Research Center for Eco-Environmental Sciences, University of Chinese Academy of Sciences, Beijing 100085, China; Sino-Danish Center for Education and Research, University of Chinese Academy of Sciences, Beijing 100190, China. Electronic address:

This study sheds light on the occurrence of emerging pesticides and their transformation products (TPs) in an urban river in Beijing that is mainly supplemented with treated wastewater. To this end, suspect and non-target screening was conducted using a database of 557 commercial pesticides and over 1400 predicted TPs. Finally, 30 pesticides and 20 TPs were identified, with 12 pesticides and 10 TPs detected in all samples. Read More

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Clinical and Morphologic Characteristics of ERK Inhibitor-Associated Retinopathy.

Ophthalmol Retina 2021 Jun 5. Epub 2021 Jun 5.

Ophthalmic Oncology Service; Department of Medicine.

Purpose: Investigate clinical and morphologic characteristics of serous retinal disturbances in patients taking extracellular signal-regulated kinase (ERK) inhibitors.

Participants: Of 61 patients receiving ERK inhibitors for treatment of metastatic cancer, this study included 40 eyes of 20 patients with evidence of retinopathy confirmed by optical coherence tomography (OCT).

Design: Single center, retrospective study of prospectively collected data METHODS: Clinical exam, fundus photography and OCT were used to evaluate ERK inhibitor retinopathy. Read More

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Parvovirus B19 in Pregnancy: A Case Review.

J Midwifery Womens Health 2021 Jun 8. Epub 2021 Jun 8.

Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, Alpert Medical School of Brown University, Providence, Rhode Island.

Parvovirus B19 has been identified as the cause of erythema infectiosum, a common childhood illness. Also known as fifth disease, this virus is highly contagious among school-age children, especially during the winter months when outbreaks within classrooms are widespread. The majority of adults have had the infection in childhood and are immune to recurrence. Read More

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Novel biallelic loss-of-function mutations in cause multiple morphological abnormalities of the sperm flagellum in Pakistani families.

Asian J Androl 2021 May 28. Epub 2021 May 28.

First Affiliated Hospital of USTC, Hefei National Laboratory for Physical Sciences at Microscale, the CAS Key Laboratory of Innate Immunity and Chronic Disease, School of Basic Medical Sciences, Division of Life Sciences and Medicine, CAS Center for Excellence in Molecular Cell Science, Collaborative Innovation Center of Genetics and Development, University of Science and Technology of China, Hefei 230027, China.

Multiple morphological abnormalities of the sperm flagella (MMAF) is a specific type of asthenoteratozoospermia, presenting with multiple morphological anomalies in spermatozoa, such as absent, bent, coiled, short, or irregular caliber flagella. Previous genetic studies revealed pathogenic mutations in genes encoding cilia and flagella-associated proteins (CFAPs; e.g. Read More

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Reversed and increased functional connectivity in non-REM sleep suggests an altered rather than reduced state of consciousness relative to wake.

Sci Rep 2021 Jun 7;11(1):11943. Epub 2021 Jun 7.

Brain & Mind Institute, Western Interdisciplinary Research Building, Western University, London, N6A 5B7, Canada.

Sleep resting state network (RSN) functional connectivity (FC) is poorly understood, particularly for rapid eye movement (REM), and in non-sleep deprived subjects. REM and non-REM (NREM) sleep involve competing drives; towards hypersynchronous cortical oscillations in NREM; and towards wake-like desynchronized oscillations in REM. This study employed simultaneous electroencephalography-functional magnetic resonance imaging (EEG-fMRI) to explore whether sleep RSN FC reflects these opposing drives. Read More

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[The smartphone as a therapeutic tool in adolescents with type 1 diabetes].

Authors:
Nour Ibrahim

Soins Pediatr Pueric 2021 May-Jun;42(320):16-17. Epub 2021 Mar 26.

Maison de Solenn- Maison des adolescents de l'hôpital Cochin, AP-HP, 97 boulevard de Port-Royal, 75014 Paris, France. Electronic address:

Over the past 15 years, the literature on mobile phone-based interventions for adolescents with type 1 diabetes has increased. While the majority of these interventions focus on therapeutic education of patients, others encourage them to take care of themselves in a broader sense. Young people express great satisfaction with these interventions, but the effectiveness in terms of metabolic control remains to be confirmed. Read More

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Diverse clinical features and diagnostic delay in monogenic inborn errors of immunity: a call for access to genetic testing.

Pediatr Allergy Immunol 2021 Jun 7. Epub 2021 Jun 7.

Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada.

Background: Inborn errors of immunity (IEIs) are a group of conditions affecting immune system development and function. Due to their clinical heterogeneity and lack of provider awareness, patients suffer from long diagnostic delays that increase morbidity and mortality. Next generation sequencing facilitates earlier diagnosis and treatment of IEIs, but too often patients are unable to see the benefit of this technology due to gaps in providers' knowledge regarding which patients to test and barriers to accessing sequencing. Read More

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Clinical Characteristics of COVID-19-Infected Cancer Patients in Pakistan: Differences Between Survivors and Non-Survivors.

Front Oncol 2021 20;11:655634. Epub 2021 May 20.

Department of Pathology, Shaukat Khanum Memorial Cancer Hospital and Research Centre, Lahore, Pakistan.

Background: Cancer patients are considered as highly vulnerable individuals in the current COVID-19 pandemic. We studied the clinical characteristics of survivor and non-survivor COVID-19-infected cancer patients in Pakistan.

Patients And Methods: We did a retrospective study of 70 cancer patients with PCR-confirmed COVID-19 infection from Shaukat Khanum Memorial Cancer Hospital and Research Centre, Lahore and Peshawar, Pakistan between April 13 and July 09, 2020. Read More

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Androgen Receptor, Although Not a Specific Marker For, Is a Novel Target to Suppress Glioma Stem Cells as a Therapeutic Strategy for Glioblastoma.

Front Oncol 2021 21;11:616625. Epub 2021 May 21.

Department of Radiation Oncology, Fred & Pamela Buffett Cancer Center, University of Nebraska Medical Center, Omaha, NE, United States.

Targeting androgen receptor (AR) has been shown to be promising in treating glioblastoma (GBM) in cell culture and flank implant models but the mechanisms remain unclear. AR antagonists including enzalutamide are available for treating prostate cancer patients in clinic and can pass the blood-brain barrier, thus are potentially good candidates for GBM treatment but have not been tested in GBM orthotopically. Our current studies confirmed that in patients, a majority of GBM tumors overexpress AR in both genders. Read More

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Triblock polyester thermoplastic elastomers with semi-aromatic polymer end blocks by ring-opening copolymerization.

Chem Sci 2020 May 4;11(25):6567-6581. Epub 2020 May 4.

Oxford Chemistry, Chemistry Research Laboratory 12 Mansfield Road Oxford OX1 3TA UK

Thermoplastic elastomers benefit from high elasticity and straightforward (re)processability; they are widely used across a multitude of sectors. Currently, the majority derive from oil, do not degrade or undergo chemical recycling. Here a new series of ABA triblock polyesters are synthesized and show high-performances as degradable thermoplastic elastomers; their composition is poly(cyclohexene--phthalate)--poly(ε-decalactone)--poly(cyclohexene--phthalate) {PE-PDL-PE}. Read More

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Site-specific glycoproteomic analysis revealing increased core-fucosylation on FOLR1 enhances folate uptake capacity of HCC cells to promote EMT.

Theranostics 2021 8;11(14):6905-6921. Epub 2021 May 8.

College of Life Science, Northwest University, Xi'an, Shaanxi province 710069, China.

Epithelial-mesenchymal transition (EMT) has been recognized as an important step toward high invasion and metastasis of many cancers including hepatocellular carcinoma (HCC), while the mechanism for EMT promotion is still ambiguous. The dynamic alterations of site-specific glycosylation during HGF/TGF-β1-induced EMT process of three HCC cell lines were systematically investigated using precision glycoproteomic methods. The possible roles of EMT-related glycoproteins and site-specific glycans were further confirmed by various molecular biological approaches. Read More

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Oral plasmablastic lymphoma: A clinicopathological study of 113 cases.

J Oral Pathol Med 2021 Jun 5. Epub 2021 Jun 5.

Department of Oral Biology and Oral Pathology, School of Dentistry, Faculty of Health Sciences, University of Pretoria, Pretoria, South Africa.

Background: Plasmablastic lymphoma (PBL) is an aggressive neoplasm that commonly develops in HIV-positive patients, usually affecting the oral cavity. EBV is present in the majority of cases, therefore playing an important role in the pathogenesis of this neoplasm.

Methods: PBL diagnosed from 2000 to 2020 were retrieved from the archives of the Department of Oral Pathology and Oral Biology at the University of Pretoria, South Africa. Read More

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Transcriptome analysis unravels RNAi pathways genes and putative expansion of CYP450 gene family in cotton leafhopper Amrasca biguttula (Ishida).

Mol Biol Rep 2021 Jun 5. Epub 2021 Jun 5.

Punjab Agricultural University, Regional Station, Circular Road, Faridko, 151203, Punjab, India.

Cotton Leafhopper, Amrasca biguttula is an important pest of cotton and okra in the Indian subcontinent. Presently limited genomic/transcriptomic information is available for this insect in any of open source databases. The present study reports the first assembled and annotated de novo transcriptome of cotton leafhopper. Read More

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Excision of deep endometriosis nodules of the sciatic nerve in 10 steps.

J Minim Invasive Gynecol 2021 Jun 3. Epub 2021 Jun 3.

Endometriosis Center, Clinique Tivoli-Ducos, Bordeaux, 33000, France.

Objective: To present 10 standardized and reproducible surgical steps allowing for complete excision of deep endometriosis nodules involving the sciatic nerve.

Design: Surgical education video. The local IRB confirmed that the video met ethical criteria required for publication. Read More

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Compliance Testing and Homogenous Exposure Group Assessment in the South African Coal Mining Industry.

Ann Work Expo Health 2021 Jun 5. Epub 2021 Jun 5.

Division of Occupational Health and Epidemiology, School of Public Health, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, Gauteng Province, South Africa.

Objectives: Globally, several strategies for compliance testing and within-group exposure variability have been suggested. This study aimed to evaluate the performance of the South African Mining Industry Code of Practice (SAMI CoP) approach for grouping and compliance testing against international standards.

Methods: A total of 28 homogenous exposure groups (HEGs) with 728 underground coal mine workers' eight-hour time-weighted average coal dust concentration data were obtained. Read More

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RNF20 and RNF40 regulate vitamin D receptor-dependent signaling in inflammatory bowel disease.

Cell Death Differ 2021 Jun 4. Epub 2021 Jun 4.

Department of General, Visceral and Pediatric Surgery, University Medical Center Goettingen, Goettingen, Germany.

Despite the identification of several genetic factors linked to increased susceptibility to inflammatory bowel disease (IBD), underlying molecular mechanisms remain to be elucidated in detail. The ubiquitin ligases RNF20 and RNF40 mediate the monoubiquitination of histone H2B at lysine 120 (H2Bub1) and were shown to play context-dependent roles in the development of inflammation. Here, we aimed to examine the function of the RNF20/RNF40/H2Bub1 axis in intestinal inflammation in IBD patients and mouse models. Read More

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Emergent synchronous beating behavior in spontaneous beating cardiomyocyte clusters.

Sci Rep 2021 Jun 4;11(1):11869. Epub 2021 Jun 4.

Department of Pure and Applied Physics, Graduate School of Advanced Science and Engineering, Waseda University, Tokyo, 169-8555, Japan.

We investigated the dominant rule determining synchronization of beating intervals of cardiomyocytes after the clustering of mouse primary and human embryonic-stem-cell (hES)-derived cardiomyocytes. Cardiomyocyte clusters were formed in concave agarose cultivation chambers and their beating intervals were compared with those of dispersed isolated single cells. Distribution analysis revealed that the clusters' synchronized interbeat intervals (IBIs) were longer than the majority of those of isolated single cells, which is against the conventional faster firing regulation or "overdrive suppression. Read More

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Smokers' cognitive and behavioural reactions during the early phase of the COVID-19 pandemic: Findings from the 2020 ITC Four Country Smoking and Vaping Survey.

PLoS One 2021 4;16(6):e0252427. Epub 2021 Jun 4.

Department of Psychology, University of Waterloo, Waterloo, Canada.

Introduction: COVID-19 is primarily a respiratory illness, and smoking adversely impacts the respiratory and immune systems; this confluence may therefore incentivize smokers to quit. The present study, conducted in four high-income countries during the first global wave of COVID-19, examined the association between COVID-19 and: (1) thoughts about quitting smoking; (2) changes in smoking (quit attempt, reduced or increased smoking, or no change); and (3) factors related to a positive change (making a quit attempt or reducing smoking) based on an adapted framework of the Health Belief Model.

Methods: This cross-sectional study included 6870 adult smokers participating in the Wave 3 (2020) ITC Four Country Smoking and Vaping Survey conducted in Australia, Canada, England, and United States (US). Read More

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Review on characteristics of trained sensory panels in food science.

J Texture Stud 2021 Jun 3. Epub 2021 Jun 3.

Faculty of Agriculture, University of Belgrade, Belgrade, Zemun, Serbia.

Sensory analysis has been, is, and will be one of the most important methods in judging food quality. As such, it is an evaluation tool involving human subjects with specific skills to conduct assigned series of tests. This review outlines main characteristics of 179 trained panels published in 16 selected scientific journals in the last 12 months, as well as training methods used for panelists, and type of sensory studies employed. Read More

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Diagnostic challenges and pockets of susceptibility identified during a measles outbreak, Luxembourg, 2019.

Euro Surveill 2021 Jun;26(22)

Department of Infection and Immunity, Luxembourg Institute of Health, Esch-sur-Alzette, Grand Duchy of Luxembourg.

Luxembourg was among the first countries in the World Health Organization (WHO) European Region documenting interruption of endemic measles transmission, but an increased incidence was registered in spring 2019. The outbreak started with an unvaccinated student who had been to a winter sports resort in a neighbouring country, where a measles outbreak was ongoing. Subsequently, 12 secondary and two tertiary cases were confirmed among students from the same school, relatives and healthcare workers, as well as six probably unrelated cases. Read More

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