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Examination of ATM, BRCA1, and BRCA2 promoter methylation in patients with pancreatic cancer.

Pancreatology 2021 Mar 28. Epub 2021 Mar 28.

Department of Pathology, The Sol Goldman Pancreatic Cancer Research Center, The Johns Hopkins University School of Medicine, Baltimore, MD, USA; Department of Oncology, The Sol Goldman Pancreatic Cancer Research Center, The Johns Hopkins University School of Medicine, Baltimore, MD, USA. Electronic address:

Background: Pancreatic cancer is a lethal disease with a poor 5-year survival rate. Pathogenic germline variants in the coding regions of ATM, BRCA1, and BRCA2 are found in up to 4.8% of pancreatic cancer patients. Read More

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Horizons in Veterinary Precision Oncology: Fundamentals of Cancer Genomics and Applications of Liquid Biopsy for the Detection, Characterization, and Management of Cancer in Dogs.

Front Vet Sci 2021 23;8:664718. Epub 2021 Mar 23.

PetDx, La Jolla, CA, United States.

Cancer is the leading cause of death in dogs, in part because many cases are identified at an advanced stage when clinical signs have developed, and prognosis is poor. Increased understanding of cancer as a disease of the genome has led to the introduction of liquid biopsy testing, allowing for detection of genomic alterations in cell-free DNA fragments in blood to facilitate earlier detection, characterization, and management of cancer through non-invasive means. Recent discoveries in the areas of genomics and oncology have provided a deeper understanding of the molecular origins and evolution of cancer, and of the "one health" similarities between humans and dogs that underlie the field of comparative oncology. Read More

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Poor Weight Recovery Between Stage 1 Palliation and Hospital Discharge for Infants with Single Ventricle Physiology: An Analysis of the NPC-QIC Phase II Dataset.

J Pediatr 2021 Mar 24. Epub 2021 Mar 24.

Department of Pediatrics, Division of Cardiology, University of Utah and Primary Children's Hospital, Salt Lake City, UT, USA.

Objective: To investigate change in weight-for-age z-scores (WAZ) and risk factors for impaired weight gain between stage 1 palliation (S1P) for single ventricle physiology and discharge.

Study Design: Secondary analysis of the National Pediatric Cardiology Quality Improvement Collaborative Phase II database. The primary outcome was change in WAZ between S1P and discharge. Read More

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Severity of Airway Obstruction May Not Correlate With Weight Gain or Failure to Thrive in Infants With Robin Sequence: A Pilot Study.

J Craniofac Surg 2021 Mar 22. Epub 2021 Mar 22.

Division of Plastic and Reconstructive Surgery, Children's National Hospital Joseph E. Robert, Jr., Center for Surgical Care, Children's National Hospital, Washington, DC.

Objective: Patients with Robin sequence (RS) can present with varying degrees of upper airway obstruction, difficulty maintaining adequate weight gain, and failure to thrive (FTT). Although inductive reasoning would suggest that these issues should be interrelated, the relationships between these factors have not been formally studied. This investigation explores the correlation between polysomnographic (PSG) findings, weight gain, and FTT in patients with RS. Read More

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[Germinoma in a patient with emaciation and growth retardation. Case report].

Arch Argent Pediatr 2021 04;119(2):e171-e175

Médica de planta de Clínica Pediátrica, Sector de Internación (CEM 4), Hospital General de Niños Pedro de Elizalde, Ciudad Autónoma de Buenos Aires, Argentina.

Central nervous system tumors are the second most frequent oncological disease among children and teenagers. Among the intracranial tumors, the germ cells ones are infrequent. The symptoms they cause are headaches, nausea and vomiting, hormonal deficits, visual disturbances, weight loss, poor growth and early puberty. Read More

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Global Goat! Is the Expanding Goat Population an Important Reservoir of ?

Front Vet Sci 2021 5;8:648500. Epub 2021 Mar 5.

Parasitology, Department of Paraclinical Sciences, Faculty of Veterinary Medicine, Norwegian University of Life Sciences, Oslo, Norway.

Goats are a primary or additional income source for many families in resource-poor areas. Although often considered inferior to other livestock, the resilience of goats and their ability to thrive in a range of environments means that that they are of particular value. Furthermore, goats emit less methane than other livestock species. Read More

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Compassion fatigue, presenteeism, Adverse Childhood Experiences (ACES), and resiliency levels of Doctor of Nursing Practice (DNP) students.

Nurse Educ Today 2021 Mar 6;100:104852. Epub 2021 Mar 6.

University of Arizona College of Nursing, USA. Electronic address:

Background: Doctor of Nursing Practice (DNP) students often experience challenges that can cause poor academic performance and attrition. Known threats to nurses' professional quality of life and patient care include compassion fatigue and presenteeism; it is not known how these phenomena carry over from prior nursing experience to DNP students' academic experiences and subsequent NP practice. Adverse Childhood Experiences (ACEs) can also threaten nursing students' coping ability and overall wellbeing. Read More

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Decrease of disease-related metabolites upon fasting in a hemizygous knock-in mouse model (-ko/ki) of methylmalonic aciduria.

JIMD Rep 2021 Mar 8;58(1):44-51. Epub 2020 Nov 8.

Division of Metabolism and Children's Research Center University Children's Hospital Zurich Zurich Switzerland.

Methylmalonyl-CoA mutase (MMUT) is part of the propionyl-CoA catabolic pathway, responsible for the breakdown of branched-chain amino acids, odd-chain fatty acids and the side-chain of cholesterol. Patients with deficient activity of MMUT suffer from isolated methylmalonic aciduria (MMAuria), frequently presenting in the newborn period with failure to thrive and metabolic crisis. Even well managed patients remain at risk for metabolic crises, of which one known trigger is acute illness, which may lead to poor feeding and vomiting, putting the patient in a catabolic state. Read More

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Ecophysiological Performance of Proteaceae Species From Southern South America Growing on Substrates Derived From Young Volcanic Materials.

Front Plant Sci 2021 19;12:636056. Epub 2021 Feb 19.

School of Biological Sciences, The University of Western Australia, Perth, WA, Australia.

Southern South American Proteaceae thrive on young volcanic substrates, which are extremely low in plant-available phosphorus (P). Most Proteaceae exhibit a nutrient-acquisition strategy based on the release of carboxylates from specialized roots, named cluster roots (CR). Some Proteaceae colonize young volcanic substrates which has been related to CR functioning. Read More

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February 2021

Epigenetics in Prader-Willi Syndrome.

Front Genet 2021 15;12:624581. Epub 2021 Feb 15.

Department of Medical Microbiology and Immunology, Genome Center, MIND Institute, University of California, Davis, Davis, CA, United States.

Prader-Willi Syndrome (PWS) is a rare neurodevelopmental disorder that affects approximately 1 in 20,000 individuals worldwide. Symptom progression in PWS is classically characterized by two nutritional stages. Stage 1 is hypotonia characterized by poor muscle tone that leads to poor feeding behavior causing failure to thrive in early neonatal life. Read More

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February 2021

Two Italian Patients with -Related Neuro-Ichthyosis:  Expanding the Genotypic and Phenotypic Spectrum and Ultrastructural Characterization.

Genes (Basel) 2021 Feb 26;12(3). Epub 2021 Feb 26.

Dermatology Unit, Bambino Gesù Children's Hospital, IRCCS, Piazza Sant'Onofrio 4, 00165 Rome, Italy.

Elongation of Very Long Chain Fatty Acid-4 (ELOVL4) is a fatty acid elongase responsible for very long-chain fatty acid biosynthesis in the brain, retina, and skin. Heterozygous mutations in gene cause Stargardt-like macular dystrophy and spinocerebellar ataxia type-34, while different homozygous mutations have been associated with ichthyosis, spastic quadriplegia, and mental retardation syndrome in three kindred. We report the first two Italian children affected with neuro-ichthyosis due to the previously undescribed homozygous frameshift variant c. Read More

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February 2021

Reperfusion of retinal ischemia in retinal occlusive vasculitis with nicotinic acid and infliximab in Adamantiades-Behçet's disease.

Am J Ophthalmol Case Rep 2021 Mar 5;21:101027. Epub 2021 Feb 5.

Byers Eye Institute, Stanford University, Palo Alto, CA, USA.

To describe a case of ischemic retinal vasculitis in Adamantiades-Behçet disease (ABD) that demonstrated significant resolution of retinal ischemia following treatment with nicotinic acid and infliximab.: A 12-year-old male with a history of recurrent oral ulcers, fevers, and failure to thrive was admitted to the hospital with fever, oral and perirectal mucositis, and poor oral intake one month before presentation to uveitis clinic. He was suspected to have ABD and was treated with three doses of intravenous (IV) methylprednisolone (30 mg/kg/day) which led to improvement in his systemic symptoms. Read More

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The Relationships between Loneliness, Social Support, and Resilience among Latinx Immigrants in the United States.

Clin Soc Work J 2020 Mar 16;48(1):99-109. Epub 2019 Oct 16.

City University of New York, New York, NY, USA.

Globally, international migrants are at elevated risk for experiencing loneliness due to separation from social networks in their countries of origin. In the United States, the political rhetoric has been particularly exclusionary against Latinx immigrants, exposing them to discrimination and fear of deportation. Such environments may result in heightened levels of social isolation, which may contribute to greater risk of poor mental and physical health outcomes. Read More

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Abdominal Wound Healing Using Negative Pressure Wound Therapy With Instillation and Dwell Time in Critical Care: A Case Study.

Wounds 2020 Dec;32(12):E92-E95

University of Alabama Hospital, Birmingham, AL.

Introduction: Negative pressure wound therapy with instillation and dwell time (NPWTi-d) has been shown to be a viable option in abdominal wound healing protocols. To shed additional light on NPWTi-d, the present case study describes the treatment of a large postsurgical abdominal wound.

Case Report: A 50-year-old female with multiple comorbidities underwent complete colectomy, end ileostomy, and percutaneous endoscopic gastronomy tube placement and subsequently developed a 27 cm x 22 cm x 7 cm abdominal wound that was approximately 85% covered by a thick layer of necrotic fat. Read More

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December 2020

Misalignment of global COVID-19 breastfeeding and newborn care guidelines with World Health Organization recommendations.

BMJ Nutr Prev Health 2020 Dec 22;3(2):339-350. Epub 2020 Dec 22.

Alive & Thrive Southeast Asia, FHI 360, Hanoi, Vietnam.

Introduction: Recommendations for the clinical management of new mothers with suspected or confirmed COVID-19 and their infants are required. Guidance must weigh the risk posed by transmission of SARS-CoV-2 against the protection that maternal proximity and breastfeeding provide infants. Our aim was to review international COVID-19 guidance for maternal and newborn care, assessing alignment with WHO recommendations and the extent to which policy supported or undermined breastfeeding. Read More

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December 2020

Rural voices: A social-ecological perspective on factors influencing youth substance use in rural South africa.

Health Soc Care Community 2021 Jan 29. Epub 2021 Jan 29.

Department of Occupational Therapy, Faculty of Community & Health Sciences, University of the Western Cape, South Africa.

Background: Youth can be a positive force for development when provided with the knowledge and opportunities they need to thrive, yet they continue to experience insurmountable challenges, such as poverty and absentee fathers, that prompt them to resort to risk behaviours such as substance use. In rural South Africa, women tend to be the breadwinners and more involved with parenting than men.

Objective: The primary objective of the study was to explore perspectives of rural youth on factors influencing youth participation in substance use. Read More

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January 2021

Roadmap on biology in time varying environments.

Phys Biol 2021 Jan 21. Epub 2021 Jan 21.

University of Illinois at Urbana-Champaign, Urbana, Illinois, 61801-3028, UNITED STATES.

Biological organisms experience constantly changing environments, from sudden changes in physiology brought about by feeding, to the regular rising and setting of the sun, to ecological changes over evolutionary timescales. Living organisms have evolved to thrive in this changing world but the general principles by which organisms shape and are shaped by time varying environments remain elusive. Our understanding is particularly poor in the intermediate regime with no separation of timescales, where the environment changes on the same timescale as the physiological or evolutionary response. Read More

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January 2021

Aldosterone synthase (CYP11B2) deficiency among Palestinian infants: Three novel variants and genetic heterogeneity.

Am J Med Genet A 2021 04 13;185(4):1033-1038. Epub 2021 Jan 13.

Department of Pediatrics, Makassed Hospital & Al-Quds Medical School, East Jerusalem, Palestine.

Aldosterone synthase deficiency (ASD) is a rare potentially life-threatening genetic disorder that usually presents during infancy due to pathogenic variants in the CYP11B2 gene. Knowledge about CYP11B2 variants in the Arab population is scarce. Here, we present and analyze five Palestinian patients and their different novel pathogenic variants. Read More

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Primary anastomosis as a valid alternative for extremely low birth weight infants with spontaneous intestinal perforation.

Eur J Pediatr 2021 May 12;180(5):1529-1535. Epub 2021 Jan 12.

Division of Pediatric Surgery, Medical Faculty and University Hospital Cologne, University of Cologne, Kerpener Strasse 62, 50937, Cologne, Germany.

The aim was to assess the results of primary anastomosis (PA) compared to enterostomy (ES) in infants with spontaneous intestinal perforation (SIP) and a weight below 1000 g. Between 2014 and 2016, enterostomy was routinely carried out on extremely low birth weight (ELBW) patients with SIP. From 2016 until 2019, all patients underwent anastomosis without stoma formation. Read More

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On the Origin of Carnivory: Molecular Physiology and Evolution of Plants on an Animal Diet.

Annu Rev Plant Biol 2021 Jan 12. Epub 2021 Jan 12.

Institute for Molecular Plant Physiology and Biophysics, University of Würzburg, 97082 Würzburg, Germany; email:

Charles Darwin recognized that carnivorous plants thrive in nutrient-poor soil by capturing animals. Although the concept of botanical carnivory has been known for nearly 150 years, its molecular mechanisms and evolutionary origins have not been well understood until recently. In the last decade, technical advances have fueled the genome and transcriptome sequencings of active and passive hunters, leading to a better understanding of the traits associated with the carnivorous syndrome, from trap leaf development and prey digestion to nutrient absorption, exemplified by the Venus flytrap (), pitcher plant (), and bladderwort (). Read More

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January 2021

The gut microbiota and nervous system: Age-defined and age-defying.

Semin Cell Dev Biol 2021 Jan 6. Epub 2021 Jan 6.

The Institute for Behavioral Medicine Research, The Ohio State University College of Medicine, USA; Department of Psychiatry and Behavioral Health, The Ohio State University College of Medicine, USA. Electronic address:

Even healthy older adults experience gastrointestinal (GI) and neurological changes. In fact, the aging process of these two systems are interrelated due the extensive, multifaceted communication network connecting them, termed the gut-brain axis. Age-related modification of the GI environment can influence the bacterial species that survive and thrive there. Read More

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January 2021

Stress Management: COVID-19 - Psychological and Spiritual Context.

Francis P Xavier

J Stem Cells Regen Med 2020 11;16(2):92. Epub 2020 Dec 11.

Loyola College, Chennai, India.

Any crisis (personal or collective) brings along an in-built stress. It cripples people from living a normal life; sometimes it leads people to the extreme condition of permanent damage. The COVID-19 situation has brought in unexpected misery - victimizing millions of people. Read More

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December 2020

Advice to use infant formula and free samples are common in both urban and rural areas in China: a cross-sectional survey.

Public Health Nutr 2021 Jan 8:1-12. Epub 2021 Jan 8.

National Institute for Nutrition and Health, Chinese Center for Disease Control and Prevention, No.27 Nanwei Road, Xicheng District, Beijing100050, People's Republic of China.

Objective: To examine the association between the place of residence and receiving free samples and advice to feed the baby with infant formula.

Design: A cross-sectional study.

Setting: The current study covered twelve counties/districts in China. Read More

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January 2021

Novel mutation in the gene in a Chinese boy with microcephaly and speech impairment: A case report.

World J Clin Cases 2020 Dec;8(24):6465-6472

Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu 610041, Sichuan Province, China.

Background: Bainbridge-Ropers syndrome (BRPS) is a severe disorder characterized by failure to thrive, facial dysmorphism, and severe developmental delay. BRPS is caused by a heterozygous loss-of-function mutation in the gene. Due to limited knowledge of the disease and lack of specific features, clinical diagnosis of this syndrome is challenging. Read More

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December 2020

Why some siblings thrive whereas others struggle: A within-family study on recollections of childhood parental bonding and current adult depressive and anxiety symptoms.

J Affect Disord 2021 Feb 16;281:413-421. Epub 2020 Dec 16.

Institute of Clinical Psychology, Leiden University, Leiden, The Netherlands; Leiden Institute for Brain and Cognition (LIBC), Leiden University Medical Center, Leiden, the Netherlands.

Background: Brothers and sisters growing up together share a large proportion of their genes and rearing environment. However, some siblings thrive whereas others struggle. This study investigated family-wide childhood bonding experiences with mother and father, in addition to individual-specific recollections, in relation to current depressive and anxiety symptom levels in adulthood. Read More

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February 2021

Congenital presentation of synchronous Atypical Teratoid Rhabdoid Tumor and Malignant Rhabdoid Tumor of the urinary bladder in a term infant.

Autops Case Rep 2020 Nov 20;10(4):e2020205. Epub 2020 Nov 20.

University of California Davis, Department of Pathology and Laboratory Medicine, Sacramento, CA, USA.

Atypical teratoid/rhabdoid tumor (AT/RT) is a rare central nervous system (CNS) tumor diagnosed primarily in infants and usually portends a poor prognosis. Despite being the most common embryonal tumor in children less than 1 year old, diagnosis is difficult to make based on clinical findings or imaging alone. A complete diagnosis of AT/RT requires identification of loss of integrase interactor 1 (INI1) protein or the SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily b, member 1 () gene, in its most common presentation. Read More

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November 2020

DNA Sensing in Mismatch Repair-Deficient Tumor Cells Is Essential for Anti-tumor Immunity.

Cancer Cell 2021 Jan 17;39(1):96-108.e6. Epub 2020 Dec 17.

Department of Pathology, UT Southwestern Medical Center, Dallas, TX 75390, USA. Electronic address:

Increased neoantigens in hypermutated cancers with DNA mismatch repair deficiency (dMMR) are proposed as the major contributor to the high objective response rate in anti-PD-1 therapy. However, the mechanism of drug resistance is not fully understood. Using tumor models defective in the MMR gene Mlh1 (dMLH1), we show that dMLH1 tumor cells accumulate cytosolic DNA and produce IFN-β in a cGAS-STING-dependent manner, which renders dMLH1 tumors slowly progressive and highly sensitive to checkpoint blockade. Read More

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January 2021