704,759 results match your criteria Pediatric and Developmental Pathology [Journal]


[Evolution of the incidence of colonized and infected patients by VIM carbapenemase-producing bacteria in a pediatric hospital in Spain].

Rev Esp Quimioter 2018 Dec 13. Epub 2018 Dec 13.

Raquel González Rubio, Escuela Nacional de Sanidad. C/Sinesio Delgado 10, 28029 Madrid. Spain.

Objective: The aim of this study is to describe the evolution of the incidence of infected and colonized patients with carbapenemase VIM-producing bacteria (CPB-VIM) at a national referral pediatric center in Madrid, Spain, between 2012 and 2015.

Methods: Descriptive epidemiological surveillance study. The surveillance system included case detection (screening for BPC colonization in all admitted patients, with periodicity according to the ward) and control measures (contact precautions, identification of previously colonized patients at admission, environmental cleaning, education, supervision of contact precautions, and patient cohort). Read More

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December 2018

Cognitive training benefit depends on brain injury location in adolescents with traumatic brain injury: a pilot study.

Eur J Phys Rehabil Med 2018 Dec 14. Epub 2018 Dec 14.

School of Psychology, Faculty of Health Sciences, Australian Catholic University, Melbourne, Australia.

Background: Executive dysfunctioning after pediatric traumatic brain injury (TBI) has been linked to poor outcomes in school performance, social functioning and employment. The credibility of training-induced cognitive enhancement in TBI is threatened by its limited proof of benefit in executive skills of daily living.

Aim: Our primary aim was to investigate if cognitive intervention for improving impairments in executive functions in the chronic stage of traumatic brain injury is effective during adolescence. Read More

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December 2018

Transcriptomic Data Mining and Repurposing for Computational Drug Discovery.

Methods Mol Biol 2019 ;1903:73-95

Division of Biomedical Informatics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

Conventional drug discovery in general is costly and time-consuming with extremely low success and relatively high attrition rates. The disparity between high cost of drug discovery and vast unmet medical needs resulted in advent of an increasing number of computational approaches that can "connect" disease with a candidate therapeutic. This includes computational drug repurposing or repositioning wherein the goal is to discover a new indication for an approved drug. Read More

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January 2019
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Pediatric Thrombotic Events: Incidence, Clinical Risk Factors and Outcome.

Indian J Pediatr 2018 Dec 13. Epub 2018 Dec 13.

Department of Neonatology, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), Puducherry, 605006, India.

Objective: To study the incidence, clinical risk factors and outcome of thrombotic events in pediatric age group of 1 mo-12 y.

Methods: This prospective observational study was conducted in a tertiary care institute from September 2015 through October 2017. Forty nine children with thrombosis from 1 mo-12 y were enrolled. Read More

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December 2018
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Hypoglycemic Profile of Exclusively Breastfed Low Birth Weight Neonates.

Indian J Pediatr 2018 Dec 13. Epub 2018 Dec 13.

Department of Pediatrics, Tata Motors Hospital, Jamshedpur, Jharkhand, India.

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December 2018
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Performance on Paladai Feeding of Preterm Infants with Bronchopulmonary Dysplasia.

Indian J Pediatr 2018 Dec 13. Epub 2018 Dec 13.

Division of Neonatology, Department of Pediatrics, Newborn Health Knowledge Centre, All India Institute of Medical Sciences, New Delhi, 110029, India.

Objective: To evaluate the feeding performance of infants with bronchopulmonary dysplasia (BPD) on paladai.

Methods: This cross-sectional study was performed in a level III neonatal unit in North India from March through August 2012. Nineteen infants (27-32 wk of gestation) were enrolled; 9 in BPD group (oxygen requirement for at least 28 d) and 10 in 'No BPD' group. Read More

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December 2018
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Transition of Children with Perinatally Acquired HIV-Infection into Adulthood: Social Outcome and Quality of Life.

Indian J Pediatr 2018 Dec 13. Epub 2018 Dec 13.

Asha Kirana Hospital, Hebbal Industrial Housing Area, Ring Road, Hebbal, Mysore 570016, Karnataka, India.

Objectives: In India, access to free anti-retroviral therapy has improved the survival of perinatally human immunodeficiency virus (HIV) infected children resulting in the transition of many such children to adulthood. This study aims to understand the social-outcomes and quality of life (QOL) among these adults.

Methods: This cross-sectional study was conducted in two tertiary HIV care centers in south India. Read More

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December 2018

Efficacy of Telephone Follow-Up in Children Tonsillectomy with Day Surgery.

Indian J Pediatr 2018 Dec 13. Epub 2018 Dec 13.

Department of ENT, Affiliated Renhe Hospital of China, Three Gorges University, Second Clinical Medical College of China, No. 410 Yiling Road, Yi Chang, Hubei, China.

Objective: Day surgery for tonsillectomy has become more and more popular in China. However, many parents face difficulties to cope up with the pain and side effects after surgery. The present study was aimed to examine the efficacy of telephone follow-up on children's post-discharge recovery after tonsillectomy. Read More

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December 2018

Serum Retinol, Vitamin D and Zinc Levels in Under Five Children with Acute Lower Respiratory Tract Infections.

Indian J Pediatr 2018 Dec 13. Epub 2018 Dec 13.

Department of Pediatrics, Nalanda Medical College, Patna, 800013, India.

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December 2018

Hematopoietic stem cell transplantation for subcutaneous panniculitis-like T-cell lymphoma: single center experience in an Asian population.

Int J Hematol 2018 Dec 13. Epub 2018 Dec 13.

Division of Hematology, Department of Medicine, Taipei Veterans General Hospital, No. 201, Sec 2, Shih-Pai Road, Taipei, 112, Taiwan.

Subcutaneous panniculitis-like T-cell lymphoma (SPTL) is a rare form of cytotoxic T-cell lymphoma. It is believed that SPTL in patients without hemophagocytic syndrome (HPS) follows an indolent course; in contrast, SPTL in patients with HPS has been associated with unfavorable survival. To provide more clinical data on SPTL in Asian populations and to identify optimal therapeutic strategies for SPTL, we assessed the clinicopathological features and long-term follow-up data of 10 Taiwanese SPTL patients diagnosed at a single center. Read More

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December 2018

Clinical Features and Treatment of Down Syndrome Arthropathy: Experience from Two US Tertiary Hospitals.

Paediatr Drugs 2018 Dec 13. Epub 2018 Dec 13.

Division of Rheumatology, Children's Mercy Kansas City, 2401 Gillham Road, Kansas City, MO, 64108, USA.

Background: Arthropathy of Down syndrome (DA) is largely under-recognized, with an average 2-year delay in diagnosis. Most patients present with polyarthritis, and treatment has historically been challenging.

Objectives: Our objective was to investigate the clinical features and treatment of DA in the largest cohort reported to date. Read More

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December 2018

Imaging of Bronchial Pathology in Antibody Deficiency: Data from the European Chest CT Group.

J Clin Immunol 2018 Dec 13. Epub 2018 Dec 13.

Paediatric Immunology Unit, Department of Paediatric Pulmonology, Allergology and Neonatology, Hanover Medical School, Carl-Neuberg Str. 1, 30625, Hannover, Germany.

Studies of chest computed tomography (CT) in patients with primary antibody deficiency syndromes (ADS) suggest a broad range of bronchial pathology. However, there are as yet no multicentre studies to assess the variety of bronchial pathology in this patient group. One of the underlying reasons is the lack of a consensus methodology, a prerequisite to jointly document chest CT findings. Read More

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December 2018
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Functional significance of channelopathy gene variants in unexplained death.

Forensic Sci Med Pathol 2018 Dec 13. Epub 2018 Dec 13.

Pediatrics, NYU School of Medicine, 450 E 29th Street, ACLS 824, New York, NY, 10016, USA.

Determining the cause of unexplained death in all age groups, including infants, is a priority in forensic medicine. The triple risk model proposed for sudden infant death syndrome involves the intersection of three risks: (1) a critical developmental period in homeostatic control (2), exogenous stressors, and (3) a vulnerable infant. Even though sex and age factor into some forms of inherited arrhythmogenic deaths in young individuals and adults, more appropriate a dual-risk disease model for adults involves exogenous stressors and a vulnerable individual. Read More

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December 2018
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Inhibitory Control and Information Processing in ADHD: Comparing the Dual Task and Performance Adjustment Hypotheses.

J Abnorm Child Psychol 2018 Dec 13. Epub 2018 Dec 13.

Department of Pediatrics, Center for Advancement of Youth, University of Mississippi Medical Center, 2500 North State Street, Jackson, MS, 39216, USA.

Inhibition is a key neurocognitive domain in ADHD that is commonly assessed with the stop-signal task. The stop-signal involves both "go" and "stop" trials; previous research indicates that response times are reliably slower to "go" trials during tasks with vs. without intermittent "stop" trials. Read More

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December 2018
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Length of Residence and Cardiovascular Health among Afro-Caribbean Immigrants in New York City.

J Racial Ethn Health Disparities 2018 Dec 13. Epub 2018 Dec 13.

Department of Social and Behavioral Sciences, West Virginia University School of Public Health, 64 Medical Center Drive, P.O. Box 9190, Morgantown, WV, 26506-9190, USA.

Cardiovascular disease (CVD) disproportionately affects non-Hispanic blacks (NHB) in the United States (U.S.). Read More

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December 2018
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Fetal Echocardiographic Measures to Improve the Prenatal Diagnosis of Coarctation of the Aorta.

Pediatr Cardiol 2018 Dec 13. Epub 2018 Dec 13.

Department of Pediatrics, Pediatric Cardiology, Yale School of Medicine, 333 Cedar St, LLCI 302, New Haven, CT, 06510, USA.

The objective of this study is to identify fetal echocardiographic measures that predict postnatal coarctation of the aorta (CoA). A retrospective review of patients from 2013 to 2017 identified 13 cases of prenatal diagnosis of CoA confirmed postnatally and 14 cases of prenatal diagnosis of CoA with normal arches postnatally. There were 30 controls. Read More

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December 2018
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Practice Variation, Costs and Outcomes Associated with the Use of Inhaled Nitric Oxide in Pediatric Heart Transplant Recipients.

Pediatr Cardiol 2018 Dec 13. Epub 2018 Dec 13.

Department of Pediatric Cardiology, Monroe Carell Jr. Children's Hospital, Vanderbilt University, 2200 Children's Way, Suite 5230 DOT, Nashville, TN, 37232-9119, USA.

Right ventricular (RV) failure is a potentially fatal complication following heart transplantation (HTx). Inhaled nitric oxide (iNO) is a selective pulmonary vasodilator that is used to decrease pulmonary vascular resistance immediately post-HTx to reduce the risk of RV failure. The aim of this study was to describe utilization patterns, costs, and outcomes associated with post-transplant iNO use in children. Read More

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December 2018

The spectrum of cloacal malformations: how to differentiate each entity prenatally with fetal MRI.

Pediatr Radiol 2018 Dec 13. Epub 2018 Dec 13.

Department of Diagnostic Radiology, Division of Pediatric Radiology,, Children's Hospital Colorado,, 13123 East 16th Ave., Mailbox B-463,, Aurora, CO, 80045, USA.

The term cloacal malformation is commonly used to describe the classic cloacal malformation where there is a single common urogenital and intestinal channel located at the expected site of the urethra. There is, however, a spectrum of cloacal abnormalities that differ from this classic type and are less well discussed in the radiologic and surgical literature. The aim of this pictorial essay is to familiarize radiologists with the anatomy, appropriate terminology and key prenatal imaging findings that differentiate the six entities that constitute the spectrum of cloacal abnormalities. Read More

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December 2018
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Pediatric neuroimaging at a university hospital in Rwanda: a pictorial essay.

Pediatr Radiol 2018 Dec 13. Epub 2018 Dec 13.

Department of Radiology, University Teaching Hospital of Kigali, University of Rwanda School of Medicine and Pharmacy, Kigali, Rwanda.

Rwanda is a country of 12 million people with 41% of its population under the age of 14 years. Despite major improvements in health care since the 1994 genocide, pediatric neuroimaging in Rwanda remains challenging. Prenatal and advanced imaging techniques, such as magnetic resonance imaging (MRI), are not widespread. Read More

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December 2018

Gadolinium-enhanced imaging of pediatric thoracic lymphoma: is intravenous contrast really necessary?

Eur Radiol 2018 Dec 13. Epub 2018 Dec 13.

Department of Diagnostic and Interventional Radiology, University Hospital Frankfurt, Theodor-Stern-Kai 7, 60590, Frankfurt/Main, Germany.

Objectives: Increasing awareness of potential side effects from gadolinium-based contrast agents has underlined the need for contrast-free magnetic resonance imaging (MRI). Numerous recent articles evaluated the risk of potential brain deposits, with the result that research is putting the focus more on alternative unenhanced imaging techniques. The aim of this study was to determine the need for contrast media for chest MRI in primary staging and follow-up care of lymphoma. Read More

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December 2018
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Data in support for the measurement of heparan sulfate and dermatan sulfate by LC-MS/MS analysis.

Data Brief 2018 Dec 26;21:2398-2404. Epub 2018 Nov 26.

Newborn Screening, Biochemistry and Pharmacology Laboratory, Pediatric Neurology Unit and Laboratories, Meyer Children׳s University Hospital, Florence, Italy.

This article provides supplementary data for the paper "LC-MS/MS method for simultaneous quantification of heparan sulfate and dermatan sulfate in urine by butanolysis derivatization" (Forni et al., 2018). Several parameters were tested to optimize sample preparation by butanolysis in order to carry out simultaneous quantifications of HS and DS by tandem mass spectrometry. Read More

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December 2018

Providers' Involvement of Parents, Families, and Family Dynamics in Youth Weight Management Programs.

Glob Pediatr Health 2018 4;5:2333794X18817134. Epub 2018 Dec 4.

East Carolina University, Greenville, NC, USA.

Family-based interventions are the current standard for the treatment of pediatric obesity, yet the details of how providers are involving family members, and the barriers to family involvement, are largely unknown. The objective of this study is to describe how providers in pediatric weight management (PWM) involve family members, identify barriers to family involvement, and how they address challenging family dynamics. A cross-sectional survey was administered to PWM centers/clinics and their providers in the United States and Canada. Read More

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December 2018

Risk Factors for Short- and Long-Term Outcomes in Children With STEC-HUS/D HUS: A Single-Center Experience.

Glob Pediatr Health 2018 4;5:2333794X18816920. Epub 2018 Dec 4.

The Children's Mercy Hospitals and Clinics, Kansas City, MO, USA.

. Hemolytic uremic syndrome (HUS) is one of the common causes for acute kidney injury in childhood. . Read More

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December 2018

Quantification of Infectious Sendai Virus Using Plaque Assay.

Bio Protoc 2018 Nov;8(21)

Department of Pathology and Laboratory Medicine, Cedars-Sinai Medical Center, Los Angeles, USA.

Sendai virus (SeV) is an enveloped, single-stranded RNA virus of the family . SeV is a useful tool to study its infectious pathomechanism in immunology and the pathomechanism of a murine model of IgA nephropathy. Virus quantification is essential not only to determine the original viral titers for an appropriate application, but also to measure the viral titers in samples from the harvests from experiments. Read More

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November 2018
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Do Tibial Eminence Fractures and Anterior Cruciate Ligament Tears Have Similar Outcomes?

Orthop J Sports Med 2018 Dec 7;6(12):2325967118811854. Epub 2018 Dec 7.

Department of Orthopedic Surgery, Mayo Clinic, Rochester, Minnesota, USA.

Background: Avulsion fractures involving the tibial eminence are considered equivalent in terms of the cause to anterior cruciate ligament (ACL) tears; however, there are limited data comparing the outcomes of adolescent patients undergoing surgical fixation of a tibial eminence fracture (TEF) with those undergoing ACL reconstruction.

Purpose: To compare the clinical outcomes, subsequent ACL injury rates, and activity levels between adolescent patients who underwent TEF fixation with patients with midsubstance ACL tears who required acute reconstruction.

Study Design: Cohort study; Level of evidence, 3. Read More

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December 2018

Similarities and Differences Between Staphylococcal and Streptococcal Toxic Shock Syndromes in Children: Results From a 30-Case Cohort.

Front Pediatr 2018 28;6:360. Epub 2018 Nov 28.

Centre National de Référence des Staphylocoques, Institut des Agents Infectieux, Centre de Biologie et de Pathologie Nord, Hospices Civils de Lyon, Lyon, France.

Toxic shock syndromes (TSS) are severe shocks due to staphylococcal or streptococcal infection that require specific treatments. The early recognition of these shocks is crucial to improve their outcomes. The primary objective of this study was to compare characteristics and outcomes of staphylococcal and streptococcal TSS in children, in order to identify putative early clinical diagnostic criteria. Read More

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November 2018

Higher hemoglobin A1C and atherogenic lipoprotein profiles in children and adolescents with type 2 diabetes mellitus.

J Clin Transl Endocrinol 2019 Mar 30;15:30-34. Epub 2018 Nov 30.

Department of Pediatrics/Division of Pediatric Endocrinology and Metabolism, Children's of Alabama, University of Alabama at Birmingham, CPPII M30, 1601 4th Ave S, Birmingham, AL 35233, United States.

Aim: Significant knowledge gaps exist regarding lipoprotein profiles in children with type 2 diabetes mellitus (T2DM). The primary objective was to analyze the type and nature of lipoprotein abnormalities present in children with T2DM and to identify determinants of adverse lipoprotein profiles. The secondary objective was to assess associations with elevated glycated hemoglobin (HbA1C), i. Read More

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Ibrutinib significantly inhibited Bruton's tyrosine kinase (BTK) phosphorylation, proliferation and enhanced overall survival in a preclinical Burkitt lymphoma (BL) model.

Oncoimmunology 2019 11;8(1):e1512455. Epub 2018 Oct 11.

Department of Pediatrics, New York Medical College, Valhalla, NY, USA.

Pediatric and adult patients with recurrent/refractory Burkitt lymphoma (BL) continue to have poor outcomes, emphasizing the need for newer therapeutic agents. Bruton's tyrosine kinase (BTK) is activated following B-cell receptor stimulation and in part regulates normal B-cell development. Ibrutinib, a selective and irreversible BTK inhibitor, has been efficacious in chronic lymphocytic leukemia (CLL), mantle cell lymphoma (MCL), Waldenström's macroglobulinemia, and marginal zone lymphoma. Read More

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October 2018
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Anticancer activity of 2'-hydroxyflavanone towards lung cancer.

Oncotarget 2018 Nov 16;9(90):36202-36219. Epub 2018 Nov 16.

Division of Hematology and Oncology, Department of Internal Medicine, Texas Tech Health Sciences Center, Lubbock, TX 79430, USA.

In previous studies, we found that 2'-hydroxyflavonone (2HF), a citrus flavonoid, inhibits the growth of renal cell carcinoma in a VHL-dependent manner. This was associated with the inhibition of glutathione S-transferases (GSTs), the first step enzyme of the mercapturic acid pathway that catalyzes formation of glutathione-electrophile conjugates (GS-E). We studied 2HF in small cell (SCLC) and non-small cell (NSCLC) lung cancer cell lines for sensitivity to 2HF antineoplastic activity and to determine the role of the GS-E transporter Rlip (Ral-interacting protein; RLIP76; RALBP1) in the mechanism of action of 2HF. Read More

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November 2018
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Expression of miR-204 in pediatric retinoblastoma and its effects on proliferation and apoptosis of cancer cells.

Oncol Lett 2018 Dec 27;16(6):7152-7157. Epub 2018 Sep 27.

Department of Oncology, The First Affiliated Hospital of Hunan Normal University (People's Hospital of Hunan Province), Changsha, Hunan 410005, P.R. China.

Expression, clinical significance and molecular mechanism of miR-204 in human retinoblastoma (RB) and para-carcinoma tissues were investigated. A total of 110 cases of RB tissues preserved after ophthalmectomy in the First Affiliated Hospital of Hunan Normal University (People's Hospital of Hunan Province) from April 2013 to June 2017 were collected along with 100 cases of para-carcinoma normal tissues. The expression of miR-204 in RB tissues was detected via reverse transcription-quantitative polymerase chain reaction (RT-qPCR), and its associations with clinicopathological features were analyzed. Read More

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December 2018

MicroRNA-182-5p contributes to the protective effects of thrombospondin 1 against lipotoxicity in INS-1 cells.

Exp Ther Med 2018 Dec 19;16(6):5272-5279. Epub 2018 Oct 19.

Department of Traditional Chinese Medicine, College of Pharmacy, Chengdu University, Chengdu, Sichuan 610106, P.R. China.

The dysfunction of beta cells serves an important role in the pathogenesis of type 2 diabetes mellitus (T2DM). An improved understanding of the molecular mechanisms underlying beta cell mass and failure will be useful for identifying novel approaches toward preventing and treating this disease. Recent studies have indicated that free fatty acids (FFAs) can cause beta cell dysfunction. Read More

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December 2018

Assessment of levels of D-dimer and interferon-γ in pediatric patients with pneumonia and its clinical implication.

Exp Ther Med 2018 Dec 17;16(6):5025-5030. Epub 2018 Oct 17.

The Second Affiliated Hospital of Qiqihar Medical University, Qiqihar, Heilongjiang 161000, P.R. China.

Levels of D-dimer and interferon-γ (INF-γ) in pediatric patients with pneumonia (MPP) were assessed to explore its clinical implication in evaluating the disease severity and patients' prognosis. Enrolled in this study as subjects were 185 pediatric patients with MPP who were admitted to the Department of Pediatrics of the Second Affiliated Hospital of Qiqihar Medical University and the First Hospital of Qiqihar City from January 2017 to October 2017 and 115 healthy children who underwent physical examination during the same time period. Patients were divided into two groups according to the severity of their pneumonia: Severe pneumonia group with 95 patients and mild pneumonia group with 90 patients. Read More

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December 2018

TNFAIP8 promotes cell growth by regulating the Hippo pathway in epithelial ovarian cancer.

Exp Ther Med 2018 Dec 2;16(6):4975-4982. Epub 2018 Oct 2.

Department of Gynecology and Obstetrics, Key Laboratory of Obstetrics and Gynecologic and Pediatric Diseases and Birth Defects of Ministry of Education, West China Second Hospital, Sichuan University, Chengdu, Sichuan 610041, P.R. China.

Tumor necrosis factor-α-induced protein 8 (TNFAIP8) is an independent prognostic factor for cancer-specific and disease-free survival in patients with epithelial ovarian cancer (EOC). However, the exact mechanism of the biological role of TNFAIP8 in EOC remains unclear. In the present study, a siRNA specifically targeting TNFAIP8 was prepared to knock down TNFAIP8 in EOC cells. Read More

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December 2018

Beta 1, Beta 2 and Beta 3 Adrenergic Receptor Gene Polymorphisms in a Southeastern European Population.

Front Genet 2018 28;9:560. Epub 2018 Nov 28.

Research Group of Clinical Pharmacology and Pharmacogenomics, Faculty of Pharmacy, School of Health Sciences, National and Kapodistrian University of Athens, Zografou, Greece.

Genetic polymorphisms in β-, β- and β-adrenergic receptors (β-ARs) have been associated with chronic non-communicable disorders, such as cardiovascular diseases, asthma, chronic obstructive pulmonary disease (COPD) and obesity, as well as β-agonists and antagonists response and toxicity. The purpose of this study was to determine the frequency distribution of genetic variants Ser49Gly and Arg389Gly, variants Gly16Arg and Gln27Glu, variant Trp64Arg in a Southeastern European Caucasian (SEC) population sample and to establish a comparison with existing data from other human populations. A sample of 431 men and 590 women volunteered to participate in this genotyping analysis after anonymization and de-identification. Read More

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November 2018

The Emerging Role of CD244 Signaling in Immune Cells of the Tumor Microenvironment.

Front Immunol 2018 28;9:2809. Epub 2018 Nov 28.

Division of Immunobiology, Cincinnati Children's Hospital Research Foundation, Cincinnati, OH, United States.

In cancer, immune exhaustion contributes to the immunosuppressive tumor microenvironment. Exhausted immune cells demonstrate poor effector function and sustained expression of certain immunomodulatory receptors, which can be therapeutically targeted. CD244 is a Signaling Lymphocyte Activation Molecule (SLAM) family immunoregulatory receptor found on many immune cell types-including NK cells, a subset of T cells, DCs, and MDSCs-that represents a potential therapeutic target. Read More

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November 2018
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CD38: A Target for Immunotherapeutic Approaches in Multiple Myeloma.

Front Immunol 2018 28;9:2722. Epub 2018 Nov 28.

Laboratory of Immunogenetics, Department of Medical Sciences, University of Torino, Torino, Italy.

Multiple Myeloma (MM) is a hematological cancer characterized by proliferation of malignant plasma cells in the bone marrow (BM). MM represents the second most frequent hematological malignancy, accounting 1% of all cancer and 13% of hematological tumors, with ~9,000 new cases per year. Patients with monoclonal gammopathy of undetermined significance (MGUS) and asymptomatic smoldering MM (SMM) usually evolve to active MM in the presence of increased tumor burden, symptoms and organ damage. Read More

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November 2018

Validation of a Multiplexed Opsonophagocytic Assay for 11 Additional Pneumococcal Serotypes and Its Application to Functional Antibody Evaluation Induced by Pneumococcal Polysaccharide Vaccine.

J Korean Med Sci 2018 Dec 12;33(51):e340. Epub 2018 Dec 12.

Department of Pediatrics, Ewha Womans University College of Medicine, Seoul, Korea.

Background: Various pneumococcal vaccines have been evaluated for immunogenicity by opsonophagocytic assay (OPA). A multiplexed OPA (MOPA) for 13 pneumococcal serotypes was developed by Nahm and Burton, and expanded to 26 serotypes in 2012. The development of new conjugate vaccines with increased valence has necessitated expanded MOPAs to include these additional serotypes. Read More

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December 2018

Prevalence of Pathological Brain Lesions in Girls with Central Precocious Puberty: Possible Overestimation?

J Korean Med Sci 2018 Dec 26;33(51):e329. Epub 2018 Nov 26.

Department of Pediatrics, Ajou University School of Medicine, Ajou University Hospital, Suwon, Korea.

Background: Brain magnetic resonance imaging (MRI) is routinely performed to identify brain lesions in girls with central precocious puberty (CPP). We aimed to investigate the prevalence and type of brain lesions among Korean girls with CPP and evaluate the need for routine brain MRI examinations.

Methods: This retrospective cross-sectional study evaluated data on 3,528 girls diagnosed with CPP from April 2003 to December 2016, and identified 317 girls who underwent sellar MRI. Read More

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December 2018

Complete Recovery of Oxysterol 7α-Hydroxylase Deficiency by Living Donor Transplantation in a 4-Month-Old Infant: the First Korean Case Report and Literature Review.

J Korean Med Sci 2018 Dec 22;33(51):e324. Epub 2018 Nov 22.

Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Korea.

Oxysterol 7α-hydroxylase deficiency is a very rare liver disease categorized as inborn errors of bile acid synthesis, caused by mutations. As it may cause rapid progression to end-stage liver disease even in early infancy, a high index of suspicion is required to prevent fatal outcomes. We describe the case of a 3-month-old boy with progressive cholestatic hepatitis and severe hepatic fibrosis. Read More

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December 2018

Primary thyroid biphasic synovial sarcoma and synchronous papillary carcinoma: report of a remarkable case.

Pathologica 2018 Sep;110(2):106-110

Pathology Unit, Garbagnate Milanese Hospital, ASST Rhodense, Italy.

Synovial Sarcoma (SS) is the fourth most common soft tissue sarcoma, characterized by translocation t(X;18) (p11.2;q11.2). Read More

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September 2018
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Overweight and obesity in preschool aged children and risk of mental health service utilization.

Int J Obes (Lond) 2018 Dec 13. Epub 2018 Dec 13.

Institute for Health Policy, Management and Evaluation, Dalla Lana School of Public Health, University of Toronto, Toronto, Canada.

Objective: To determine if overweight or obesity in preschool-age children is associated with mental health service utilization in later childhood.

Subjects: Overall, 10,522 children 2 to <5 years, with no previous history of mental health service utilization, were identified from primary care electronic medical records (EMRs) across Ontario, Canada.

Methods: This was a retrospective longitudinal cohort study. Read More

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December 2018
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Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria.

Genet Med 2018 Dec 14. Epub 2018 Dec 14.

Departments of Molecular and Medical Genetics and Pediatrics, Oregon Health & Science University, Portland, OR, USA.

Purpose: Phenylketonuria (PKU) is a rare metabolic disorder that requires life-long management to reduce phenylalanine (Phe) concentrations within the recommended range. The availability of pegvaliase (PALYNZIQ™, an enzyme that can metabolize Phe) as a new therapy necessitates the provision of guidance for its use.

Methods: A Steering Committee comprising 17 health-care professionals with experience in using pegvaliase through the clinical development program drafted guidance statements during a series of face-to-face meetings. Read More

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December 2018

A survey on incidence and management of adenovirus infection after allogeneic HSCT.

Bone Marrow Transplant 2018 Dec 13. Epub 2018 Dec 13.

Department of Pediatric Hematology and Oncology, University Hospital, Collegium Medicum UMK, Bydgoszcz, Poland.

To determine the current practices on the management of Adenovirus (ADV) infection after allogenic stem cell transplantation, a survey was undertook among EBMT centres. The response rate was 20% (91/446): 46% were adult, 44% were paediatric and 10% were mixed centres, respectively. The overall incidence of ADV infection was 7. Read More

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December 2018

Bacterial blood stream infections (BSIs), particularly post-engraftment BSIs, are associated with increased mortality after allogeneic hematopoietic cell transplantation.

Bone Marrow Transplant 2018 Dec 13. Epub 2018 Dec 13.

Division of Hematology/Oncology, The University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.

We analyzed CIBMTR data to evaluate the incidence of non-relapse mortality (NRM) and association with overall survival (OS) for bacterial blood stream infections (BSIs) occurring within 100 days of alloHCT in 2 different phases: pre-/peri-engraftment (BSI very early phase, BSI-VEP) and BSI post-engraftment (BSI occurring between 2 weeks after engraftment and day 100, late early phase, BSI-LEP). Of the 7128 alloHCT patients, 2656 (37%) had ≥1 BSI by day 100. BSI-VEP, BSI-LEP, and BSI-Both constituted 56% (n = 1492), 31% (n = 824), and 13% (n = 340) of total BSI, respectively. Read More

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December 2018

Paediatric pulmonary arterial hypertension: updates on definition, classification, diagnostics and management.

Eur Respir J 2018 Dec 13. Epub 2018 Dec 13.

Center for Congenital Heart Diseases, Pediatric Cardiology, Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.

Paediatric pulmonary arterial hypertension (PAH) shares common features of adult disease, but is associated with several additional disorders and challenges that require unique approaches. This article discusses recent advances, ongoing challenges and distinct approaches for the care of children with PAH, as presented by the Paediatric Task Force of the 6th World Symposium on Pulmonary Hypertension. We provide updates of the current definition, epidemiology, classification, diagnostics and treatment of paediatric PAH, and identify critical knowledge gaps. Read More

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December 2018

Pathology and pathobiology of pulmonary hypertension: state of the art and research perspectives.

Eur Respir J 2018 Dec 13. Epub 2018 Dec 13.

Cardiovascular Institute, Dept of Pediatrics, Stanford University School of Medicine, Stanford, CA, USA.

Clinical and translational research has played a major role in advancing our understanding of pulmonary hypertension (PH), including pulmonary arterial hypertension and other forms of PH with severe vascular remodelling ( chronic thromboembolic PH and pulmonary veno-occlusive disease). However, PH remains an incurable condition with a high mortality rate, underscoring the need for a better transfer of novel scientific knowledge into healthcare interventions. Herein, we review recent findings in pathology (with the questioning of the strict morphological categorisation of various forms of PH into pre- or post-capillary involvement of pulmonary vessels) and cellular mechanisms contributing to the onset and progression of pulmonary vascular remodelling associated with various forms of PH. Read More

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December 2018
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Zinc deficiency causes neural tube defects through attenuation of p53 ubiquitylation.

Development 2018 Dec 13;145(24). Epub 2018 Dec 13.

Department of Pediatrics, University of Colorado Anschutz Medical Campus, Children's Hospital Colorado, Aurora, CO 80045, USA

Micronutrition is essential for neural tube closure, and zinc deficiency is associated with human neural tube defects. Here, we modeled zinc deficiency in mouse embryos, and used live imaging and molecular studies to determine how zinc deficiency affects neural tube closure. Embryos cultured with the zinc chelator TPEN failed to close the neural tube and showed excess apoptosis. Read More

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December 2018
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Replacement of cyclophosphamide/cytarabine/mercaptopurine with cyclophosphamide /etoposide during Consolidation/Delayed Intensification does not improve outcome for pediatric B-ALL: a report from the COG.

Haematologica 2018 Dec 13. Epub 2018 Dec 13.

Department of Pediatrics, Children Hospital of Philadelphia.

With modern chemotherapy, approximately 90% of patients with pediatric acute lymphoblastic leukemia are now cured. However, subsets of patients can be identified who remain at very high risk of relapse with expected 4-year disease-free survival <80% and are appropriate candidates for intensive therapeutic strategies designed to improve survival. AALL1131 aimed to determine, in a randomized fashion, if the substitution with cyclophosphamide/etoposide (Experimental Arm 1) would improve the 4-year disease-free survival of children, adolescents, and young adults with very high-risk B-cell acute lymphoblastic leukemia compared to a modified Berlin-Frankfurt-Munster regimen (Control Arm). Read More

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December 2018

High-affinity allergen-specific human antibodies cloned from single IgE B cell transcriptomes.

Science 2018 Dec;362(6420):1306-1309

Department of Bioengineering, Stanford University, Stanford, CA 94305, USA.

Immunoglobulin E (IgE) antibodies protect against helminth infections but can also cause life-threatening allergic reactions. Despite their role in human health, the cells that produce these antibodies are rarely observed and remain enigmatic. We isolated single IgE B cells from individuals with food allergies and used single-cell RNA sequencing to elucidate the gene expression and splicing patterns unique to these cells. Read More

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December 2018
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Comprehensive functional genomic resource and integrative model for the human brain.

Science 2018 Dec;362(6420)

Program in Computational Biology and Bioinformatics, Yale University, New Haven, CT 06520, USA.

Despite progress in defining genetic risk for psychiatric disorders, their molecular mechanisms remain elusive. Addressing this, the PsychENCODE Consortium has generated a comprehensive online resource for the adult brain across 1866 individuals. The PsychENCODE resource contains ~79,000 brain-active enhancers, sets of Hi-C linkages, and topologically associating domains; single-cell expression profiles for many cell types; expression quantitative-trait loci (QTLs); and further QTLs associated with chromatin, splicing, and cell-type proportions. Read More

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December 2018
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