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J Clin Oncol 2021 May 4:JCO2002636. Epub 2021 May 4.

Lebanese American University Medical Center-Rizk, Beirut, Lebanon.

Purpose: Constitutional mismatch repair deficiency syndrome (CMMRD) is a lethal cancer predisposition syndrome characterized by early-onset synchronous and metachronous multiorgan tumors. We designed a surveillance protocol for early tumor detection in these individuals.

Patients And Methods: Data were collected from patients with confirmed CMMRD who were registered in the International Replication Repair Deficiency Consortium. Read More

Clin Rheumatol 2021 Apr 21. Epub 2021 Apr 21.

Department of Medicine, Division of Rheumatology, University of Washington, Seattle, WA, USA.

Sporadic inclusion body myositis (sIBM) has been reported to occur in association with autoimmune diseases and in particular, primary Sjogren's syndrome (pSS). This brief report describes patients identified with a positive SSA antibody and diagnosis of sIBM at a large academic medical center over a 13.5-year period. Read More

Nat Med 2021 Apr 20. Epub 2021 Apr 20.

Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.

Analysis of human blood immune cells provides insights into the coordinated response to viral infections such as severe acute respiratory syndrome coronavirus 2, which causes coronavirus disease 2019 (COVID-19). We performed single-cell transcriptome, surface proteome and T and B lymphocyte antigen receptor analyses of over 780,000 peripheral blood mononuclear cells from a cross-sectional cohort of 130 patients with varying severities of COVID-19. We identified expansion of nonclassical monocytes expressing complement transcripts (CD16C1QA/B/C) that sequester platelets and were predicted to replenish the alveolar macrophage pool in COVID-19. Read More

Tumori 2021 Apr 13:3008916211009316. Epub 2021 Apr 13.

Unit of Hereditary Digestive Tract Tumours, Department of Surgery, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.

Introduction: Familial adenomatous polyposis (FAP) is a hereditary autosomal dominant disorder characterized by the development of multiple adenomas in the colon and rectum with a lifetime risk of 80%-100% to develop colorectal cancer if undetected or untreated. Gardner-associated fibroma (GAF) is a rare, benign soft tissue lesion with uncertain pathogenesis. GAF is generally associated with FAP in its clinical variant, called Gardner syndrome (GS). Read More

Brain Commun 2021 25;3(1):fcab001. Epub 2021 Jan 25.

Hunter New England Local Health District, Sports Concussion Program, Waratah, NSW 2298, Australia.

There are no validated criteria for diagnosing chronic traumatic encephalopathy, or traumatic encephalopathy syndrome, in a living person. The purpose of this study is to examine symptom reporting resembling the research criteria for traumatic encephalopathy syndrome in men and women from the US general population. This is a retrospective analysis of publicly available data from a cross-sectional epidemiological study. Read More

PLoS Pathog 2021 04 9;17(4):e1009501. Epub 2021 Apr 9.

Department of Immunology and Microbiology, The Scripps Research Institute, Jupiter, FL, United States of America.

The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) spike (S) protein mediates infection of cells expressing angiotensin-converting enzyme 2 (ACE2). ACE2 is also the viral receptor of SARS-CoV (SARS-CoV-1), a related coronavirus that emerged in 2002-2003. Horseshoe bats (genus Rhinolophus) are presumed to be the original reservoir of both viruses, and a SARS-like coronavirus, RaTG13, closely related to SARS-CoV-2, has been identified in one horseshoe-bat species. Read More

AANA J 2021 Apr;89(2):133-140

is the former chief CRNA at Johns Hopkins and is currently an assistant professor and assistant program director of the Doctor of Nursing Practice, Nurse Anesthesia Track, at the Johns Hopkins School of Nursing, Baltimore, Maryland. Email:

Certified Registered Nurse Anesthetists (CRNAs) are uniquely skilled anesthesia providers with substantial experience managing critically ill patients. During the coronavirus disease 2019 (COVID) pandemic, CRNAs at a large academic medical center in the Mid-Atlantic United States experienced a shift in their daily responsibilities. As the hospital transitioned to the management of patients who tested positive for the virus that causes COVID, the severe acute respiratory syndrome-coronavirus type 2 (SARS-CoV-2), CRNAs were redeployed into the roles of respiratory therapists and intensive care unit registered nurses. Read More

Proc Natl Acad Sci U S A 2021 04;118(15)

One Health Institute and Karen C. Drayer Wildlife Health Center, School of Veterinary Medicine, University of California, Davis, CA 95616;

The death toll and economic loss resulting from the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic are stark reminders that we are vulnerable to zoonotic viral threats. Strategies are needed to identify and characterize animal viruses that pose the greatest risk of spillover and spread in humans and inform public health interventions. Using expert opinion and scientific evidence, we identified host, viral, and environmental risk factors contributing to zoonotic virus spillover and spread in humans. Read More

Health Secur 2021 Apr 1. Epub 2021 Apr 1.

Carole R. Baskin, DVM, MSc, is Director, Communicable Disease Control Services; Mark Barry, MBA, MIB, is Director, Fiscal Services; Rachel E. Cohen, MPH, is a Public Health Coordinator, Health Promotions & Public Health Research; Colleen Condren, MSW, MPA, is a Change Management Officer; Sarah Crosley, MA, is a Public Health Coordinator; Carrie D. Dickhans is Director, Environmental Services; Kate Donaldson, MPH, is Assistant Division Director, Division of Health Promotion and Public Health Research; Sharon Gardner, MBA, is Director, Human Resources; Ken J. A. Griffin, MA, was Chief Operating Officer, Public Health & Primary Care Integration; Arletta Place is Director, Administrative Services; and Emily D. Doucette, MD, MSPH, FAAFP, and Spring Schmidt are Acting Co-Directors; all at St. Louis County Department of Public Health, Berkeley, MO. Ken J. A. Griffin is now Chief Operating Officer, Howard Brown Health, Chicago, IL.

The COVID-19 pandemic has stretched limited public health resources beyond measures, particularly at the local level. What started as an interesting report of pneumonia of unknown etiology in late December 2019 in Wuhan, China, bloomed into an international crisis by mid-January 2020. However, it was not until late January, when the first case was reported in the United States, that a new reality took shape for US public health agencies. Read More

Exp Ther Med 2021 May 16;21(5):488. Epub 2021 Mar 16.

Department of Stomatology, Nanfang Hospital, Southern Medical University, Guangzhou, Guangdong 510515, P.R. China.

Gardner's syndrome is a rare autosomal dominant hereditary disease that is characterized by multiple colorectal polyps combined with extra-colonic presentation (such as osteoma or desmoid tumors) of familial adenomatous polyposis syndrome. Gardner's syndrome is caused by the mutation of the adenomatous polyposis coli () gene, which is located at 5q21. The aim of the current study was to investigate the gene mutations present in a Han Chinese family diagnosed with Gardner's syndrome. Read More

Medicine (Baltimore) 2021 Apr;100(13):e25247

Department of Oncology, Longhua Hospital Affiliated to Shanghai University of Traditional Chinese Medicine (TCM), Shanghai, China.

Rationale: Gardner syndrome is a rare autosomal dominant disorder with a high degree of penetrance, which is characterized by intestinal polyposis, osteomas, and dental abnormalities. Majority of patients with Gardner syndrome will develop colorectal cancer by the age of 40 to 50 years. Mutations in the adenomatous polyposis coli gene are supposed to be responsible for the initiation of Gardner syndrome. Read More

Diabetes Care 2021 Mar 15. Epub 2021 Mar 15.

Hôpital Bichat, Université de Paris, Assistance Publique - Hôpitaux de Paris, Paris, France.

Objective: In observational data, lower levels of lipoprotein(a) have been associated with greater prevalence of type 2 diabetes. Whether pharmacologic lowering of lipoprotein(a) influences incident type 2 diabetes is unknown. We determined the relationship of lipoprotein(a) concentration with incident type 2 diabetes and effects of treatment with alirocumab, a PCSK9 inhibitor. Read More

Cleft Palate Craniofac J 2021 Mar 8:1055665621991740. Epub 2021 Mar 8.

Department of Audiology and Speech-Language Pathology, 14423Arkansas Children's Hospital, Little Rock, AR, USA.

Objective: Velopharyngeal insufficiency (VPI) is a common speech disorder in patients with a history of cleft palate (CP) or 22q11.2 deletion syndrome. Pharyngeal flap (PF) and sphincter pharyngoplasty (SP) are 2 common surgeries to treat this disorder by decreasing unwanted nasal air emission and hypernasal resonance. Read More

Hautarzt 2021 Apr 4;72(4):288-294. Epub 2021 Mar 4.

Klinik für Dermatologie und Allergologie, LMU Klinikum, Frauenlobstr. 9-11, 80337, München, Deutschland.

Hereditary tumor syndromes are characterized by a familial occurrence of tumors/cancer. A hereditary tumor syndrome should be suspected if a familial occurrence of cancer is seen and/or persons at younger age are affected. Some of the currently known tumor syndromes are associated with specific skin symptoms that can aid the physician in establishing the correct diagnosis. Read More

Pediatr Cardiol 2021 Feb 2. Epub 2021 Feb 2.

Division of Cardiology, The Children's Hospital of Philadelphia and Department of Pediatrics, Perelman School of Medicine at the University of Pennsylvania, 3401 Civic Center Blvd, Philadelphia, PA, 19104, USA.

Quality improvement efforts have focused on reducing interstage mortality for infants with hypoplastic left heart syndrome (HLHS). In 1/2016, two publications reported that use of digoxin was associated with reduced interstage mortality. The degree to which these findings have affected real world practice has not been evaluated. Read More

Biol Trace Elem Res 2021 Jan 26. Epub 2021 Jan 26.

Department of Biotechnology, Junagadh Agricultural University, Junagadh, Gujarat, 362001, India.

A 10-year-old Gir bullock was presented with four contiguous hard nodular submucosal masses attached to the right rostral mandible. Overgrown masses were resected surgically and submitted for microstructural, elemental, and molecular spectroscopic analyses. An osteoma was diagnosed histopathologically. Read More

Nat Rev Clin Oncol 2021 Jan 25. Epub 2021 Jan 25.

Pediatric Oncology Branch, Center for Cancer Research, NCI, NIH, Bethesda, MD, USA.

As clinical advances with chimeric antigen receptor (CAR) T cells are increasingly described and the potential for extending their therapeutic benefit grows, optimizing the implementation of this therapeutic modality is imperative. The recognition and management of cytokine release syndrome (CRS) marked a milestone in this field; however, beyond the understanding gained in treating CRS, a host of additional toxicities and/or potential late effects of CAR T cell therapy warrant further investigation. A multicentre initiative involving experts in paediatric cell therapy, supportive care and/or study of late effects from cancer and haematopoietic stem cell transplantation was convened to facilitate the comprehensive study of extended CAR T cell-mediated toxicities and establish a framework for new systematic investigations of CAR T cell-related adverse events. Read More

Dermatol Ther 2021 Mar 28;34(2):e14789. Epub 2021 Jan 28.

Department of Nephrology, University of Health Sciences, Gulhane Training and Research Hospital, Ankara, Turkey.

Genet Med 2021 Jan 20. Epub 2021 Jan 20.

Duke University Health System, Durham, NC, USA.

Purpose: Neurodevelopmental disorders (NDDs) encompass a spectrum of genetically heterogeneous disorders with features that commonly include developmental delay, intellectual disability, and autism spectrum disorders. We sought to delineate the molecular and phenotypic spectrum of a novel neurodevelopmental disorder caused by variants in the GNAI1 gene.

Methods: Through large cohort trio-based exome sequencing and international data-sharing, we identified 24 unrelated individuals with NDD phenotypes and a variant in GNAI1, which encodes the inhibitory Gαi1 subunit of heterotrimeric G-proteins. Read More

Crit Rev Eukaryot Gene Expr 2020 ;30(6):519-541

School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, Lahore, Pakistan.

Obesity is marked by the buildup of fat in adipose tissue that increases body weight and the risk of many associated health problems, including diabetes and cardiovascular disease. Treatment options for obesity are limited, and available medications have many side effects. Thus there is a great need to find alternative medicines for treating obesity. Read More

Eur J Obstet Gynecol Reprod Biol 2021 Mar 29;258:63-69. Epub 2020 Dec 29.

Department of Biology and Reproductive Medicine, University Hospital of Nantes, 44000, Nantes, France; Faculty of Medicine, University of Nantes, 44000, Nantes, France.

Objective: Is there an association between blastocyst morphology and maternal first trimester serum markers in In Vitro Fertilization (IVF) pregnancies obtained after fresh single blastocyst transfer?

Study Design: This bi-centric retrospective study was conducted between January 2012 and August 2018. We included 122 women aged from 18 to 43 years-old, whose pregnancy progressed at least beyond 13 weeks after a single blastocyst transfer and who participated in the first trimester combined screening test. Day 5 and day 6 blastocysts were evaluated according to Gardner and Schoolcraft classification. Read More

Radiat Res 2021 02;195(2):191-199

Charles River Laboratories, Laval, Canada.

Exposure to acute, high-dose, whole-body ionizing radiation results in bone marrow failure (hematopoietic acute radiation syndrome with resultant infection, bleeding, anemia, and increased risk of death). Sargramostim (yeast-derived rhu GM-CSF), a yeast-derived, molecularly cloned, hematopoietic growth factor and pleiotropic cytokine supports proliferation, differentiation, maturation and survival of cells of several myeloid lineages. We evaluated the efficacy of sargramostim in non-human primates (rhesus macaques) exposed to whole-body ionizing radiation at a 50-60% lethal dose. Read More

NPJ Genom Med 2020 Dec 9;5(1):53. Epub 2020 Dec 9.

Griffith Institute for Drug Discovery, Griffith University, Brisbane, QLD, Australia.

USP9X is an X-chromosome gene that escapes X-inactivation. Loss or compromised function of USP9X leads to neurodevelopmental disorders in males and females. While males are impacted primarily by hemizygous partial loss-of-function missense variants, in females de novo heterozygous complete loss-of-function mutations predominate, and give rise to the clinically recognisable USP9X-female syndrome. Read More

Neurosurg Focus 2020 12;49(6):E12

Departments of1Neurosurgery and.

Objective: During the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic, endoscopic endonasal surgery (EES) is feared to be a high-risk procedure for the transmission of coronavirus disease 2019 (COVID-19). Nonetheless, data are lacking regarding the management of EES during the pandemic. The object of this study was to understand current worldwide practices pertaining to EES for skull base/pituitary tumors during the SARS-CoV-2 pandemic and provide a basis for the formulation of guidelines. Read More

Paediatr Perinat Epidemiol 2021 May 1;35(3):281-291. Epub 2020 Dec 1.

Department of Obstetrics and Gynecology, University of Utah, Salt Lake City, UT, USA.

Background: Fetal aneuploidy risk increases with maternal age, but the majority of pregnancies complicated by trisomy 21 occur in younger women. It has been suggested that grandmaternal and/or paternal age may also play a role.

Objectives: To assess the association between grandmaternal and paternal age and trisomy 21. Read More

J Immunother Cancer 2020 11;8(2)

Pediatric Oncology Branch, National Cancer Institute, Bethesda, Maryland, USA

Immunotherapeutic strategies targeting B-cell acute lymphoblastic leukemia (B-ALL) effectively induce remission; however, disease recurrence remains a challenge. Due to the potential for antigen loss, antigen diminution, lineage switch or development of a secondary or treatment-related malignancy, the phenotype and manifestation of subsequent leukemia may be elusive. We report on two patients with multiply relapsed/refractory B-ALL who, following chimeric antigen receptor T-cell therapy, developed myeloid malignancies. Read More

Parkinsonism Relat Disord 2021 01 14;82:7-9. Epub 2020 Nov 14.

Neurology and Stroke Unit, ASST Settelaghi, Ospedale di Circolo, Varese, Italy; Università Degli Studi Dell'Insubria, Varese, Italy.

Eur Spine J 2021 Jan;30(1):232-233

Department of Orthopedics, University of Pretoria, Pretoria, South Africa.

Rev Esp Enferm Dig 2021 Mar;113(3):179-182

Gastroenterology, second Xiangya Hospital. Central South University, .

Introduction: Gardner syndrome is a hereditary disease characterized by familial adenomatous polyposis (FAP), accompanied by soft tissue tumors.

Material And Methods: a Chinese FAP family was enrolled and followed-up for three years.

Results: a novel large germline fragment deletion (EX10_16DEL) of the adenomatous polyposis coli (APC) gene was identified by multiplex ligation-dependent probe amplification (MLPA). Read More

Prev Vet Med 2020 Dec 2;185:105197. Epub 2020 Nov 2.

Food and Agriculture Organization of the United Nations (FAO), Rome, Italy.

Middle East Respiratory Syndrome Coronavirus (MERS-CoV) is an emerging viral disease and dromedary camels are known to be the source of human spill over events. A cross-sectional epidemiological surveillance study was carried out in Kenya in 2017 to, 1) estimate MERS-CoV antibody seropositivity in the camel-dense counties of Turkana, Marsabit, Isiolo, Laikipia and Nakuru to identify, and 2) determine the risk factors associated with seropositivity in camels. Blood samples were collected from a total of 1421 camels selected using a multi-stage sampling method. Read More