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https://www.readbyqxmd.com/read/29909561/molecular-genetic-analysis-for-periodic-fever-syndromes-a-supplemental-role-for-the-diagnosis-of-adult-onset-still-s-disease
#1
Hongbin Li, Irina Abramova, Sandra Chesoni, Qingping Yao
Adult-onset Still's disease (AOSD) represents a systemic autoinflammatory disease (SAID), and its diagnostic criteria are clinical without genetic testing. Given shared manifestations between AOSD and hereditary SAIDs, molecular analysis may help differentiate these diseases. A PubMed literature search was conducted using key words "adult-onset Still's disease," "autoinflammatory disease," and "genetic mutation" between 1970 and February 2018. Articles on genetic mutations in the genes MEFV, TNFRSF1A, mevalonate kinase, or NOD2 for hereditary SAIDs in AOSD/systemic onset juvenile idiopathic arthritis (SJIA) patients were reviewed and analyzed...
June 17, 2018: Clinical Rheumatology
https://www.readbyqxmd.com/read/29909499/immune-checkpoint-inhibitors-and-radiosurgery-for-newly-diagnosed-melanoma-brain-metastases
#2
Tyler P Robin, Robert E Breeze, Derek E Smith, Chad G Rusthoven, Karl D Lewis, Rene Gonzalez, Amanda Brill, Robin Saiki, Kelly Stuhr, Laurie E Gaspar, Sana D Karam, David Raben, Brian D Kavanagh, Sameer K Nath, Arthur K Liu
INTRODUCTION: Brain metastases are common in metastatic melanoma and radiosurgery is often utilized for local control. Immune checkpoint inhibitors (CPIs) play a central role in contemporary melanoma management; however, there is limited data exploring outcomes and potential toxicities for patients treated with CPIs and radiosurgery. METHODS: We retrospectively identified all consecutive cases of newly diagnosed melanoma brain metastases (MBM) treated with Gamma Knife radiosurgery at a single institution between 2012 and 2017, and included only patients that initiated CPIs within 8 weeks before or after radiosurgery...
June 16, 2018: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29909441/annular-pancreas-in-china-9-years-experience-from-a-single-center
#3
REVIEW
DengLiang Wang, Quan Kang, ShuJun Shi, Wei Hu
To summarize the clinical characteristics, diagnosis, treatment and prognosis among 152 children with annular pancreas (AP). A retrospective review of 152 patients with AP who were treated with surgical repair between January 2009 and August 2017 was performed at our pediatric surgical units. Presenting symptoms, birth weight, radiological findings, associated anomalies, the type of surgery performed were analyzed. (1) 152 patients were identified, out of which 82 were males, and 70 were females; (2) the average birth weight of children with AP was less than that of healthy newborns...
June 16, 2018: Pediatric Surgery International
https://www.readbyqxmd.com/read/29909229/functional-evaluation-of-bilateral-subtalar-arthroereisis-for-the-correction-of-flexible-flatfoot-in-children-1-year-follow-up
#4
Paolo Caravaggi, Giada Lullini, Lisa Berti, Sandro Giannini, Alberto Leardini
BACKGROUND: Flexible flatfoot (FFF) is a common alteration of the foot diagnosed in the pediatric population causing pain and decreased quality of life. Surgical treatment via arthroereisis of the subtalar joint can be recommended when non-invasive options do not result in sufficient pain relief. While clinical outcome of subtalar joint arthroereisis is generally positive, no functional evaluation has thus far been reported following surgery. RESEARCH QUESTION: The aim of this study was to assess the effects of two arthroereisis implants for the correction of bilateral FFF on foot and lower limb biomechanics during gait...
June 11, 2018: Gait & Posture
https://www.readbyqxmd.com/read/29909188/late-diagnosed-phenylketonuria-mimicking-x-linked-adrenoleukodystrophy-with-heterozygous-mutations-of-the-pah-gene-a-case-report-and-literature-review
#5
REVIEW
Yinglu Liu, Zhao Dong, Shengyuan Yu
Phenylketonuria (PKU) is a prevalent inherited metabolic disorder caused by a phenylalanine hydroxylase (PAH) or tetrahydrobiopterin (BH4) deficiency, which leads to the accumulation of phenylalanine (PHE). High blood levels of PHE have a toxic effect on the brain and are associated with several neurological signs. Most cases of PKU are identified during infancy, and diagnosis of PKU in adult is rare. Here, we describe a 29-year-old patient with progressive dementia and muscular weakness mimicking X-linked adrenoleukodystrophy...
June 11, 2018: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/29908784/screening-for-psychiatric-disorders-with-self-administered-questionnaires
#6
Mark Zimmerman, Carolina Guzman Holst
Given the time demands of clinical practice it is not surprising that diagnoses are sometimes missed. To improve diagnostic recognition, self-administered screening scales have been recommended. A problem with much of the research effort on screening scales is the confusion between diagnostic testing and screening. It is important for a screening test to have high sensitivity because the more time intensive/expensive follow-up diagnostic inquiry will presumably only occur in patients who are positive on the initial screen...
May 16, 2018: Psychiatry Research
https://www.readbyqxmd.com/read/29908754/bile-acids-and-fxr-in-functional-gastrointestinal-disorders
#7
REVIEW
Paula Mosińska, Adrian Szczepaniak, Jakub Fichna
Functional gastrointestinal disorders (FGIDs), such as irritable bowel syndrome (IBS) and chronic constipation (CC), are commonly diagnosed conditions in clinical practice which create a substantial global burden. Since the farnesoid X receptor (FXR) and bile acids (BAs) are responsible for maintaining homeostasis in the GI tract, any disturbances in the expression of FXR or the composition of BAs may contribute to the development of the GI symptoms. Alterations in the mechanism of action of FXR directly affect the BAs pool and account for increased intestinal permeability and changes in abundance and diversity of gut microbiota leading to intestinal dysmotility...
May 30, 2018: Digestive and Liver Disease
https://www.readbyqxmd.com/read/29908726/digital-health-intervention-as-an-adjunct-to-a-workplace-health-program-in-hypertension
#8
Conor Senecal, R Jay Widmer, Matthew P Johnson, Lilach O Lerman, Amir Lerman
BACKGROUND: Hypertension is a common and difficult-to-treat condition; digital health tools may serve as adjuncts to traditional pharmaceutical and lifestyle-based interventions. Using a retrospective observational study we sought to evaluate the effect of a desktop and mobile digital health intervention (DHI) as an adjunct to a workplace health program in those previously diagnosed with hypertension. METHODS: As part of a workplace health program, 3330 patients were identified as previously diagnosed with hypertension...
May 30, 2018: Journal of the American Society of Hypertension: JASH
https://www.readbyqxmd.com/read/29908679/a-multicenter-cross-sectional-study-to-evaluate-the-clinical-characteristics-and-nutritional-status-of-children-with-cerebral-palsy
#9
Kursad Aydin
BACKGROUND & AIMS: This study was designed to assess clinical characteristics and nutritional status of pediatric outpatients with cerebral palsy (CP) and to determine prevalence of malnutrition based on physicians' clinical judgment and on anthropometric data in relation to percentile reference values. METHODS: A total of 1108 pediatric neurology outpatients (mean ± SEM age: 7.2 ± 0.1 years, 59.3% were males) diagnosed with CP were included in this cross-sectional, non-interventional multicenter single-visit study conducted between October 2015 and July 2016 at 20 centers across Turkey...
August 2018: Clinical Nutrition ESPEN
https://www.readbyqxmd.com/read/29908674/analysis-of-factors-associated-with-cedar-pollen-sensitization-and-development-of-pollinosis-in-a-young-japanese-adult-population
#10
Satoshi Nakamura, Sachiko Tsunoda, Hiroshi Sakaida, Sawako Masuda, Ahamad Shah Said, Kazuhiko Takeuchi
BACKGROUND: Genetic and environmental factors are proposed to be involved in cedar pollen allergy sensitization and onset. The impact of these factors will provide key information for the prevention of cedar pollen sensitization and allergy onset, which we investigated in this cross-sectional study. METHODS: Subjects were 382 young adult volunteers who completed a self-administered questionnaire on self-reported subjective symptoms of pollinosis, physician-diagnosed pollinosis, and background factors...
June 13, 2018: Allergology International: Official Journal of the Japanese Society of Allergology
https://www.readbyqxmd.com/read/29908521/respiratory-viruses-among-children-with-non-severe-community-acquired-pneumonia-a-prospective-cohort-study
#11
Amanda C Nascimento-Carvalho, Ana-Luisa Vilas-Boas, Maria-Socorro H Fontoura, Tytti Vuorinen, Cristiana M Nascimento-Carvalho
BACKGROUND: Community-acquired pneumonia (CAP) causes a major burden to the health care system among children under-5 years worldwide. Information on respiratory viruses in non-severe CAP cases is scarce. OBJECTIVES: To estimate the frequency of respiratory viruses among non-severe CAP cases. STUDY DESIGN: Prospective study conducted in Salvador, Brazil. Out of 820 children aged 2-59 months with non-severe CAP diagnosed by pediatricians (respiratory complaints and radiographic pulmonary infiltrate/consolidation), recruited in a clinical trial (ClinicalTrials...
June 6, 2018: Journal of Clinical Virology: the Official Publication of the Pan American Society for Clinical Virology
https://www.readbyqxmd.com/read/29908467/a-french-hernia-in-dubai-a-case-report
#12
Yousif H Al Abboudi, Hajer A Busharar, Labib S Alozaibi, Asnin Shah, Rafya Ahmed
INTRODUCTION: De Garengeot hernia was first described in 1731. It is rare type of hernia and there is no established mode of treatment for it to date. This work has been reported in line with the SCARE criteria (Agha et al., 2016). PRESENTATION OF CASE: We present a case of a 72 years old male with a non-reducible right inguinal swelling diagnosed to be a femoral hernia with congested appendix within. There are less than 100 cases like this reported to date in the literature...
May 31, 2018: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29908450/cervical-sympathetic-chain-schwannoma-masquerading-as-a-vagus-nerve-schwannoma-complicated-by-postoperative-horner-s-syndrome-and-facial-pain-a-case-report
#13
Austin T Baker, Tyler J Homewood, Terry R Baker
INTRODUCTION: Cervical Sympathetic Chain Schwannomas (CSCS) of the carotid sheath are rare neoplasms that can be misdiagnosed on imaging. The following case documents a rare incident of a misdiagnosed CSCS with unusual outcomes of permanent Horner's syndrome and facial pain. PRESENTATION OF CASE: A 36-year-old female presented with a slow-growing neck mass. CT and MRI led to a preoperative diagnosis of vagus nerve schwannoma (VNS). However, surgical treatment revealed the mass to be involved with the cervical sympathetic chain rather than the vagus nerve...
June 9, 2018: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29907799/utility-and-limitations-of-exome-sequencing-as-a-genetic-diagnostic-tool-for-children-with-hearing-loss
#14
Sarah Sheppard, Sawona Biswas, Mindy H Li, Vijayakumar Jayaraman, Ian Slack, Edward J Romasko, Ariella Sasson, Joshua Brunton, Ramakrishnan Rajagopalan, Mahdi Sarmady, Jenica L Abrudan, Sowmya Jairam, Elizabeth T DeChene, Xiahoan Ying, Jiwon Choi, Alisha Wilkens, Sarah E Raible, Maria I Scarano, Avni Santani, Jeffrey W Pennington, Minjie Luo, Laura K Conlin, Batsal Devkota, Matthew C Dulik, Nancy B Spinner, Ian D Krantz
PURPOSE: Hearing loss (HL) is the most common sensory disorder in children. Prompt molecular diagnosis may guide screening and management, especially in syndromic cases when HL is the single presenting feature. Exome sequencing (ES) is an appealing diagnostic tool for HL as the genetic causes are highly heterogeneous. METHODS: ES was performed on a prospective cohort of 43 probands with HL. Sequence data were analyzed for primary and secondary findings. Capture and coverage analysis was performed for genes and variants associated with HL...
June 15, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29907750/examining-the-associations-among-fibrocystic-breast-change-total-lean-mass-and-percent-body-fat
#15
Yuan-Yuei Chen, Wen-Hui Fang, Chung-Ching Wang, Tung-Wei Kao, Yaw-Wen Chang, Hui-Fang Yang, Chen-Jung Wu, Yu-Shan Sun, Wei-Liang Chen
Fibrocystic breast change (FBC) is extremely common and occurrs in 90% of women during their lives. The association between body composition and risk of breast cancer is well established. We hypothesized that the effect might exist during the development of FBC. Our aim was to examine the relationships of total lean mass (TLM) and percent body fat (PBF) with FBC in a general female population. In total, 8477 female subjects aged 20 years or older were enrolled in the study at the Tri-Service General Hospital in Taiwan from 2011 to 2016...
June 15, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29907228/diagnostic-inflammatory-markers-in-acute-cholangitis
#16
Andrei M Beliaev, Michael Booth, David Rowbotham, Colleen Bergin
BACKGROUND: The 2018 Tokyo guidelines for acute cholangitis (AC) use white cell count (WCC) as one of the diagnostic criteria. However, the 2018 Tokyo guidelines grading does not provide guidance for AC patients with normal WCC. In this situation, other inflammatory biomarkers also can be used to diagnose AC and grade severity, but their diagnostic values are yet undetermined. The aims of this study were to evaluate the discriminative powers of common inflammatory markers compared with WCC for diagnosing AC and to determine their diagnostic cutoff levels...
August 2018: Journal of Surgical Research
https://www.readbyqxmd.com/read/29907224/patient-provider-relationships-and-health-outcomes-among-hepatopancreatobiliary-patients
#17
Emily Cerier, Eliza W Beal, Jeffery Chakedis, Qinyu Chen, Anghela Paredes, Steven Sun, Jordan M Cloyd, Timothy M Pawlik
BACKGROUND: The patient-provider relationship (PPR) is an important element of health care delivery and may influence patient outcomes. The objective of the present study was to identify clinical predictors of PPR among patients with hepatopancreatobiliary (HPB) diseases and assess the association of PPR and health care utilization. MATERIALS AND METHODS: The Medical Expenditure Panel Survey database from 2008-2014 was used to identify adult patients with HPB diagnoses...
August 2018: Journal of Surgical Research
https://www.readbyqxmd.com/read/29907186/isolation-of-naturally-infecting-leishmania-infantum-from-canine-samples-in-novy-macneal-nicolle-medium-prepared-with-defibrinated-blood-from-different-animal-species
#18
Roseclea Chagas Dos Santos, Flaviane Alves de Pinho, Gabriela Porfírio Passos, Daniela Farias Larangeira, Stella Maria Barrouin-Melo
The most commonly used culture medium for the in vitro isolation of Leishmania spp. from canine biological samples is biphasic Novy-MacNeal-Nicolle (NNN) medium, whose solid phase is prepared using rabbit blood. Leishmania infantum parasites from natural infections are highly sensitive and demanding for growth in axenic conditions when firstly obtained from the dog's body. The objective of this study was to evaluate whether NNN medium (NNN-test) prepared with chicken blood (NNN-C), ox blood (NNN-O), horse blood (NNN-H) or sheep blood (NNN-S) was viable for the isolation of parasites from naturally infected dogs, in an endemic area for visceral leishmaniasis caused by L...
June 15, 2018: Veterinary Parasitology
https://www.readbyqxmd.com/read/29906700/patient-characteristics-and-treatment-patterns-in-patients-with-newly-diagnosed-epilepsy-a-us-database-analysis
#19
Edward Faught, Sandra Helmers, David Thurman, Hyunmi Kim, Linda Kalilani
OBJECTIVE: The objective of this study was to determine patient characteristics and antiepileptic drug (AED) treatment patterns in patients with newly diagnosed epilepsy in a United States (US) population followed for ≥180 days. METHODS: In this retrospective cohort study, Commercial, Supplemental Medicare, and Medicaid insurance claims from US-based Truven Health MarketScan® claims database were analyzed for incident epilepsy cases (index date: January 2010-June 2013; prior baseline of 2 years [1 year for ages 1 to <2 years; none for those <1 year])...
June 12, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29906596/are-we-missing-respiratory-viral-infections-in-infants-and-children-comparison-of-a-hospital-based-quality-management-system-with-standard-of-care
#20
Maren Alchikh, Tim Conrad, Christian Hoppe, Xiaolin Ma, Eeva Broberg, Pasi Penttinen, Janine Reiche, Barbara Biere, Brunhilde Schweiger, Barbara Rath
OBJECTIVES: Hospital-based surveillance of influenza and acute respiratory infections relies on ICD-codes and hospital laboratory reports (Standard-of-Care). It is unclear how many cases are missed with either method, i.e. remain undiagnosed/coded as influenza and other respiratory virus infections. Various influenza-like illness (ILI) definitions co-exist with little guidance on how to use them. We are comparing the diagnostic accuracy of standard surveillance methods with a prospective quality management (QM-Program) at a Berlin children's hospital with the Robert-Koch-Institute (RKI)...
June 12, 2018: Clinical Microbiology and Infection
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