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Effectiveness and Early Postoperative Outcomes of Palliative Endoluminal Stenting Versus Hartmann's Procedure in Acute Malignant Bowel Obstruction in High-risk Patients.

Ann Coloproctol 2021 Jun 24. Epub 2021 Jun 24.

Department of Hepatology and Gastroenterology, Faculty of Medicine, Ain Shams University, Cairo, Egypt.

Purpose: The emergency intervention for acute malignant left-sided colonic obstruction remains controversial. Conflicting reports exist regarding the efficacy and safety of endoscopic placement of self-expandable metallic stents (SEMS) vs. primary surgery. Read More

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Laparoscopy Offers Better Clinical Outcomes and Long-term Survival in Patients With Right Colon Cancer: Experience From National Cancer Center.

Ann Coloproctol 2021 Jun 24. Epub 2021 Jun 24.

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

Purpose: Laparoscopic approach to colonic tumor requires skill set and resources to be established as routine standard of care in most centers around the world. It presents particular challenge in country like Pakistan due to economic constrain and lack of teaching and training opportunities available for surgeons to be trained to deliver such service. The aim of this study is to look into changing practice of our institution from conventional approach of open to laparoscopic surgery for right colon cancer. Read More

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Familial Otosclerosis Associated with Osteogenesis Imperfecta: A Case Report.

J Audiol Otol 2021 Jun 25. Epub 2021 Jun 25.

Department of Otorhinolaryngology-Head and Neck Surgery, Research Institute of Hearing Enhancement, Yonsei University Wonju College of Medicine, Wonju, Korea.

Otosclerosis, a hereditary disorder characterized by disordered resorption and deposition of bone, results in progressive hearing loss. Osteogenesis imperfecta (OI) is a genetic disorder characterized by recurrent fractures, blue sclera, and varying degrees of hearing impairment; and is a known risk factor for otosclerosis. After adolescence, the risk of fracture decreases, reducing the need for follow-up in OI. Read More

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Quantitation and evaluation of perinatal medium-chain and long-chain acylcarnitine blood concentrations in 12,000 full-term breastfed newborns.

J Pediatr Endocrinol Metab 2021 Jun 24. Epub 2021 Jun 24.

Department of Pharmacy, Laboratory of Pharm. Analysis, National and Kapodistrian University of Athens, Athens, Greece.

Objectives: Medium-chain (MCA) and long-chain acylcarnitine (LCA) blood concentrations play a significant role in the fatty acid (FA) oxidation process, especially during the first days of life. Identification of their abnormal concentrations, expanded newborn screening, can lead to the diagnosis of FA oxidation disorders. This study aimed to demonstrate MCA and LCA concentrations in Dried Blood Spots (DBS) of full-term breastfed infants, in relation to their birth weight (BW) perinatally. Read More

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The clinical variations and diagnostic challenges of deoxyguanosine kinase deficiency: a descriptive case series.

J Pediatr Endocrinol Metab 2021 Jun 25. Epub 2021 Jun 25.

Department of Pediatric Metabolism, Ankara University Faculty of Medicine, Ankara, Turkey.

Objectives: Deoxyguanosine kinase (DGUOK) deficiency is one of the leading causes of the mitochondrial DNA-depletion syndromes (MDDS) associated with hepatocerebral involvement. Herein, we present four cases of DGUOK deficiency to emphasize the clinical variability of disease and the challenges in the diagnosis of DGUOK deficiency.

Case Presentation: Hepatomegaly, hyperlactatemia, elevated alpha fetoprotein (AFP), alanine, and transaminase levels were detected in all patients, and cholestasis, coagulopathy, and hypotonia were common findings. Read More

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The presentation of congenital adrenal hyperplasia in an unscreened population.

J Pediatr Endocrinol Metab 2021 Jun 24. Epub 2021 Jun 24.

Department of Paediatric Endocrinology, Children's Health Ireland at Temple Street, Dublin 1, Ireland.

Background: The aim of this study was to describe the incidence and spectrum of early clinical presentations of congenital adrenal hyperplasia (CAH) in an unscreened population.

Methods: A national retrospective observational study was undertaken to identify all children diagnosed with CAH in the Republic of Ireland, between January 2005 and December 2019. Reporting clinicians completed anonymized clinical questionnaires. Read More

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Long-term Efficacy and Tolerability of Adjunctive Aripiprazole for Major Depressive Disorder: Systematic Review and Meta-analysis.

Prim Care Companion CNS Disord 2021 Jun 24;23(4). Epub 2021 Jun 24.

Department of Psychiatry and Psychology, Mayo Clinic, Rochester, Minnesota.

To assess the long-term efficacy and safety of aripiprazole as an augmentation strategy for major depressive disorder (MDD).

Ovid MEDLINE, PsycInfo, and Embase databases were systematically searched for clinical studies of adult patients with MDD on long-term aripiprazole augmentation.

Long-term follow-up was defined as ≥ 6 months. Read More

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Myopathy can be a key phenotype of membrin (GOSR2) deficiency.

Hum Mutat 2021 Jun 24. Epub 2021 Jun 24.

Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.

Pathogenic variants in Golgi snap receptor complex member 2 (GOSR2) cause progressive myoclonus epilepsy with ataxia, areflexia, elevated serum creatine kinase and loss of ambulation. Most reported patients are homozygous for the same pathogenic variant and follow the same disease course. A few severe exceptions with different pathogenic variants suffer from early onset and rapid progression of the disease with a congenital muscular dystrophy phenotype. Read More

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Bile volatile organic compounds, smelling trouble.

Endoscopy 2021 Jul 24;53(7):737-738. Epub 2021 Jun 24.

Gastroenterology Department, Alicante University General Hospital, ISABIAL, Alicante, Spain.

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Vitamin D Receptor Gene Polymorphisms and Risk of Alzheimer Disease and Mild Cognitive Impairment: A Systematic Review and Meta-Analysis.

Adv Nutr 2021 Jun 24. Epub 2021 Jun 24.

Department of Geratology, Xiyuan Hospital, China Academy of Chinese Medical Sciences, Beijing, China.

The results from epidemiologic studies suggest that vitamin D receptor (VDR) gene polymorphisms are potentially associated with Alzheimer disease (AD) and mild cognitive impairment (MCI), but this association has yet to be confirmed. Here, we conducted a meta-analysis based on a larger sample size to clarify the contribution of VDR gene polymorphisms to MCI and AD susceptibility. The PubMed, Embase, Cochrane Library, and China National Knowledge Infrastructure databases were searched to obtain studies published before 30 October, 2020. Read More

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EPIDEMIOLOGIC AND PUBLIC HEALTH SIGNIFICANCE OF TOXOPLASMA GONDII INFECTIONS IN BEARS (URSUS SPP.): A 50 YEAR REVIEW INCLUDING RECENT GENETIC EVIDENCE.

J Parasitol 2021 May;107(3):519-528

Department of Microbiology, University of Tennessee, Knoxville, Tennessee 37996-0845.

Toxoplasma gondii infections are common in humans and animals worldwide. The present review summarizes worldwide information on the prevalence of clinical and subclinical infections, epidemiology, and genetic diversity of T. gondii infections in bears. Read More

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Molecular and cellular markers for measurable residual disease in acute lymphoblastic leukemia.

Bol Med Hosp Infant Mex 2021 ;78(3):159-170

Laboratorio Juárez, Medicina de Laboratorio Clínico de Alta Especialidad, Biología Molecular e Investigación Clínica, Oaxaca de Juárez, Oaxaca. Mexico.

Acute leukemia is the leading cause of death in children worldwide, particularly in developing countries where the growing number of cases with unfavorable prognosis and high risk of early relapse have positioned pediatric cancer as a priority. The late and imprecise diagnosis, malnutrition and unfavorable environmental conditions, and toxicity-associated therapy are some of the factors that compromise the success of the treatment and affect survival rates in vulnerable regions. An early and exhaustive classification of malignant neoplasms at the clinical debut and the proper follow-up of treatment's response constitute one of the most powerful prognostic factors. Read More

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January 2021

Pediatric acute respiratory distress syndrome: How to protect the lungs during mechanical ventilation?

Bol Med Hosp Infant Mex 2021 ;78(3):181-190

Departamento de Emergencias y Áreas Críticas, Unidad de Cuidados Intensivos, Instituto Nacional de Salud del Niño, Lima, Peru.

Pediatric acute respiratory distress syndrome (PARDS) is a frequent diagnosis in critical care. This inflammatory process has different stages characterized by mild-to-severe hypoxia, and the management will vary according to the severity. New definitions for pediatric patients were published in 2015; new epidemiological evidence revising those definitions has helped understand the mortality associated with PARDS and the impact on ventilation. Read More

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January 2021

Clinical Rounds.

Authors:

Nursing 2021 Jun;51(6):21-23

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Quality of Life Assessment in Older Adults with Dementia: A Systematic Review.

Dement Geriatr Cogn Disord 2021 Jun 24:1-8. Epub 2021 Jun 24.

Department of Internal Medicine, UTHealth McGovern Medical School, Houston, Texas, USA.

Introduction: In the absence of a cure, dementia is often managed by minimizing risk factors contributing to quality of life (QOL). Attitudes to dementia in older adults may differ from those in relatively younger adults. The aim was to conduct a systematic review of the literature to determine how QOL was assessed in adults, 65 years and older with dementia, and identify factors that influence the reported scores. Read More

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Intracardiac EUS-B-Guided FNA for Diagnosing Cardiac Tumors.

Respiration 2021 Jun 24:1-5. Epub 2021 Jun 24.

Department of Respiratory Medicine, Location Academic Medical Center (AMC), Amsterdam University Medical Centers, Amsterdam, The Netherlands.

Primary cardiac tumors are extremely rare. Obtaining a tissue diagnosis is difficult and commonly requires open-heart surgery with associated morbidity. Esophageal endoscopic ultrasound (EUS) and EUS with the EBUS scope (EUS-B) provide real-time sampling of centrally located lung tumors and mediastinal lymph nodes. Read More

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