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Internal diseases

Jordan T Jones, Nasreen Talib, Daniel Lovell, Mara L Becker
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. METHODS: In a retrospective chart review at two tertiary care hospitals, International Classification of Diseases, ninth revision, clinical modification (ICD-9-CM) codes for Down syndrome (DS) and juvenile idiopathic arthritis (JIA), between 1 January 1995 and 31 December 2015, were identified and charts reviewed...
December 13, 2018: Paediatric Drugs
Katharina Schütz, Diana Alecsandru, Bodo Grimbacher, Jamanda Haddock, Annemarie Bruining, Gertjan Driessen, Esther de Vries, Peter M van Hagen, Ieneke Hartmann, Francesco Fraioli, Cinzia Milito, Milica Mitrevski, Isabella Quinti, Goffredo Serra, Peter Kelleher, Michael Loebinger, Jiri Litzman, Vera Postranecka, Vojtech Thon, Judith Babar, Alison M Condliffe, Andrew Exley, Dinakantha Kumararatne, Nick Screaton, Alison Jones, Maria P Bondioni, Vassilios Lougaris, Alessandro Plebani, Annarosa Soresina, Cesare Sirignano, Giuseppe Spadaro, Nermeen Galal, Luis I Gonzalez-Granado, Sabine Dettmer, Robert Stirling, Helen Chapel, Mary Lucas, Smita Patel, Claire-Michele Farber, Isabelle Meyts, Arpan K Banerjee, Scott Hackett, John R Hurst, Klaus Warnatz, Benjamin Gathmann, Ulrich Baumann
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. We aimed to establish an international platform for the evaluation of bronchial pathology as assessed by chest CT and to describe the range of bronchial pathologies in patients with antibody deficiency...
December 13, 2018: Journal of Clinical Immunology
Zimeng You, Xiaoxiao Yang, Jianbin Yu, Jiangan Zhang, Yuping Ran
Chromoblastomycosis is found worldwide with higher incidence in tropical and subtropical regions. Fonsecaea spp. is one of the major causative agents of this disease. First case of chromoblastomycosis due to Fonsecaea nubica in Northern China is reported in a 75-year-old Chinese male. We firstly summarized molecular identification methods of Fonsecaea spp. and all the strains of F. nubica reported in the literature. Sequencing of internal transcribed spacer alone and/or combined with actin (ACT1), partial cell division cycle (CDC42) and partial beta-tubulin (BT2) were most commonly used to identify species, while lactase (Lac), homogentisate (HmgA) and polyketide synthase (PKS1) were also used in some cases...
December 13, 2018: Mycopathologia
Attia Abd Allah Attia, Mohamed Abd El Mawgood Amer, Mamdouh Hassan, Sameh Fayek GamalEl Din
PURPOSE: The purpose of the study was to compare serum level of folic acid (FA) in patients with erectile dysfunction (ED) versus healthy controls and to assess its correlation with other well-known confounders for ED. METHODS: Our prospective study compared FA in 60 patients with ED versus 30 healthy controls. Patients were excluded if they had any hormonal disorders, Peyronie's disease, or decompensated systemic illnesses. ED was evaluated by the validated Arabic version of the abbreviated five-item form of the International Index Of Erectile Function and confirmed by penile duplex...
December 13, 2018: International Urology and Nephrology
David J McConkey, Seth P Lerner
PURPOSE: To provide a condensed summary of the Basic Science chapter that was included in the Third International Consultation on Bladder Cancer. METHODS: World bladder cancer basic science experts used the published literature to create summaries of recent progress in their areas of expertise. RESULTS: The completion of several large-scale genomics projects coupled with a strong collaborative culture within the research community and the exciting clinical activity of immune checkpoint blockade have combined to transform the bladder cancer research landscape...
December 13, 2018: World Journal of Urology
Rushabh M Vakharia, Chester J Donnally, Augustus J Rush, Ajit M Vakharia, Derek D Berglund, Neil V Shah, Michael Y Wang
Background: Primary lumbar fusion (LF) is a treatment option for degenerative disc disease. The literature is limited regarding postoperative complications in opioid abusers undergoing LF. The purpose of this study was to compare 2-year short term implant-related complications, infection rates, 90-day readmission rates, in-hospital length of stay, and cost of care amongst opioid abusers (OAS) and non-opioid abusers (NAS) undergoing primary 1- to 2-level primary lumbar fusion (1-2LF). Methods: A retrospective review was performed using the Medicare Standard Analytical Files from an administrative database...
September 2018: Journal of Spine Surgery (Hong Kong)
Timothy R Niedzielak, Bijan J Ameri, Blaze Emerson, Rushabh M Vakharia, Martin W Roche, John P Malloy
Background: Due to increased postoperative complications with anterior cervical discectomy and fusion (ACDF), there has been an increasing interest in the use of cervical disc arthroplasty (CDA). Advancements in prosthetic designs and techniques have improved patient reported outcome measurements and minimized revision rates. There is a paucity in the literature regarding recent trends in CDA utilization and revision rates. The purpose of this study was to determine annual primary and revision CDA trends with the use of an administrative database...
September 2018: Journal of Spine Surgery (Hong Kong)
Tarush Kothari, Kendal Jensen, Debbie Mallon, Gerard Brogan, James Crawford
Acute kidney injury, especially early-stage disease, is a common hospital comorbidity requiring timely recognition and treatment. We investigated the effect of daily laboratory alerting of patients at risk for acute kidney injury as measured by documented International Classification of Diseases diagnoses. A quasi-experimental study was conducted at 8 New York hospitals between January 1, 2014, and June 30, 2017. Education of clinical documentation improvement specialists, physicians, and nurses was conducted from July 1, 2014, to December 31, 2014, prior to initiating daily hospital-wide laboratory acute kidney injury alerting on January 1, 2015...
January 2018: Academic Pathology
Michal Chovanec, Costantine Albany, Michal Mego, Rodolfo Montironi, Alessia Cimadamore, Liang Cheng
Testicular germ cell tumors are unique among solid cancers. Historically, this disease was deadly if progressed beyond the stage I. The implementation of cisplatin-based chemotherapy regimens has drastically changed the clinical outcome of metastatic testicular cancer. Several biomarkers were established to refine the prognosis by International Germ Cell Collaborative Group in 1997. Among these, the most significant were primary tumor site; metastatic sites, such as non-pulmonary visceral metastases; and the amplitude of serum tumor markers α-fetoprotein, β-chorionic gonadotropin, and lactate dehydrogenase...
2018: Frontiers in Oncology
Kazuhiro Saso, Norikatsu Myoshi, Shiki Fujino, Yuya Takenaka, Yusuke Takahashi, Junichi Nishimura, Masayoshi Yasui, Masayuki Ohue, Masayoshi Tokuoka, Yoshito Ide, Hidekazu Takahashi, Naotsugu Haraguchi, Taishi Hata, Chu Matsuda, Tsunekazu Mizushima, Yuichiro Doki, Masaki Mori
The present study aimed to clarify the risk factors for recurrence of stage II colon cancer in patients and to determine possible treatment options for postoperative adjuvant chemotherapy. A prediction model for recurrence in patients with stage II colon cancer after curative surgical resection was developed. The present study retrospectively investigated 436 patients who underwent curative resection for stage II colon cancer at Osaka International Cancer Institute and Yao Municipal Hospital between 2004 and 2012...
December 2018: Molecular and Clinical Oncology
Diane da Costa Miranda, Sonia Maria Dozzi Brucki, Mônica Sanches Yassuda
The Mini-Addenbrooke's Cognitive Examination (M-ACE) is a brief cognitive screening test that evaluates four main cognitive domains (orientation, memory, language and visuospatial function) with a maximum score of 30 points and administration time of five minutes. Objective: To assess the performance of healthy elderly, MCI patients and mild AD patients using the Brazilian version of the M-ACE. Methods: The test was applied to a group of 36 Mild Cognitive Impairment (MCI), 23 mild Alzheimer's Disease (AD) and 25 cognitive healthy elderly...
October 2018: Dementia & Neuropsychologia
Wen-Jing Ding, Yi Yang, Zi-Xing Chen, Yuan-Yuan Wang, Wan-Li Dong, Jian-Nong Cen, Xiao-Fei Qi, Feng Jiang, Su-Ning Chen
Previous studies on the pathogenesis of myelodysplastic syndrome (MDS) have identified multiple associated gene mutations, including mutations of tetmethylcytosinedioxygenase 2, isocitrate dehydrogenase [NADP(+)] 1 cytosolic, isocitrate dehydrogenase [NADP(+)] 2 mitochondrial and additional sex combs like 1 transcriptional regulator, all of which may be considered epigenetic regulators. Furthermore, mutations of RAS type GTPase family genes have been identified in 10-15% patients with MDS. The authors' previous study on the gene expression profile of cluster of differentiation 34+ cells using microarray analysis identified elevated expression of RAP1GTPase activating protein 1 (Rap1GAP) in patients with MDS compared with that in non-malignant blood diseases (NM) control group...
December 2018: Oncology Letters
Jaana van Gastel, Jhana O Hendrickx, Hanne Leysen, Paula Santos-Otte, Louis M Luttrell, Bronwen Martin, Stuart Maudsley
G protein coupled receptors (GPCRs) were first characterized as signal transducers that elicit downstream effects through modulation of guanine (G) nucleotide-binding proteins. The pharmacotherapeutic exploitation of this signaling paradigm has created a drug-based field covering nearly 50% of the current pharmacopeia. Since the groundbreaking discoveries of the late 1990s to the present day, it is now clear however that GPCRs can also generate productive signaling cascades through the modulation of β-arrestin functionality...
2018: Frontiers in Pharmacology
Savina Gupta, Amit Kumar Sharma, Jeetendra Purohit, Rahi Goyal, Yogendra Malviya, Sugandha Jain
Introduction: Temperomandibular joint (TMJ) is subjected to many disorders commonly called Temperomandibular disorders (TMDs); such as TMJ hypermobility, ankylosis, internal derangement, degenerative joint disease. Internal derangement is characterized by abnormal relationship of articular disc to the condyle and disc to fossa. In past many non-invasive conservative treatment modalities were tried out for its treatment which are joint unloading, use of anti-inflammatory agents, physiotherapy etc...
July 2018: National Journal of Maxillofacial Surgery
Jiri Lisy, Andrea Efremova, Michal Hrdlicka
AIMS: The aim of our study was to assess the yield of routine brain magnetic resonance imaging (MRI) performed at our hospital as part of the diagnostic procedures focused on autism. METHODS: Our retrospective study involved children who had attended a diagnostic examination focused on autism and underwent brain MRIs between 1998-2015. The International Classification of Diseases, 10th edition was used to make clinical diagnoses. In 489 children (404 boys, 85 girls; mean age 8...
December 11, 2018: Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia
Jennifer R Charlton, Louis Boohaker, David Askenazi, Patrick D Brophy, Mamta Fuloria, Jason Gien, Russell Griffin, Sangeeta Hingorani, Susan Ingraham, Ayesa Mian, Robin K Ohls, Shantanu Rastogi, Christopher J Rhee, Mary Revenis, Subrata Sarkar, Michelle Starr, Alison L Kent
BACKGROUND: Most studies of neonatal acute kidney injury (AKI) have focused on the first week following birth. Here, we determined the outcomes and risk factors for late AKI (>7d). METHODS: The international AWAKEN study examined AKI in neonates admitted to an intensive care unit. Late AKI was defined as occurring >7 days after birth according to the KDIGO criteria. Models were constructed to assess the association between late AKI and death or length of stay...
December 13, 2018: Pediatric Research
Shan Jiang, Natalie Wen, Zeran Li, Umber Dube, Jorge Del Aguila, John Budde, Rita Martinez, Simon Hsu, Maria V Fernandez, Nigel J Cairns, Oscar Harari, Carlos Cruchaga, Celeste M Karch
Mutations in the microtubule-associated protein tau (MAPT) gene cause autosomal dominant frontotemporal lobar degeneration with tau inclusions (FTLD-tau). MAPT p.R406W carriers present clinically with progressive memory loss and neuropathologically with neuronal and glial tauopathy. However, the pathogenic events triggered by the expression of the mutant tau protein remain poorly understood. To identify the genes and pathways that are dysregulated in FTLD-tau, we performed transcriptomic analyses in induced pluripotent stem cell (iPSC)-derived neurons carrying MAPT p...
December 13, 2018: Translational Psychiatry
Monica Thakar, Larisa Broglie, Brent Logan, Andrew Artz, Nancy Bunin, Lauri M Burroughs, Caitrin Fretham, David A Jacobsohn, Alison W Loren, Joanne Kurtzberg, Caridad A Martinez, Shin Mineishi, Adam S Nelson, Ann Woolfrey, Marcelo C Pasquini, Mohamed L Sorror
Despite overall improvements, mortality after allogeneic hematopoietic cell transplantation (HCT) for non-malignant diseases remains a significant problem. We evaluated whether pre-HCT conditions defined by the HCT Comorbidity Index (HCT-CI), predicts probability of post-transplant survival in these patients. Using the Center for International Blood and Marrow Transplant Research (CIBMTR) database, we identified 4,083 patients with non-malignant diseases transplanted between 2007-2014. Primary outcome was overall survival (OS), estimated using the Kaplan-Meier method...
December 13, 2018: Blood
Meletios A Dimopoulos, Francesca Gay, Fredrik Schjesvold, Meral Beksac, Roman Hajek, Katja Christina Weisel, Hartmut Goldschmidt, Vladimir Maisnar, Philippe Moreau, Chang Ki Min, Agnieszka Pluta, Wee-Joo Chng, Martin Kaiser, Sonja Zweegman, Maria-Victoria Mateos, Andrew Spencer, Shinsuke Iida, Gareth Morgan, Kaveri Suryanarayan, Zhaoyang Teng, Tomas Skacel, Antonio Palumbo, Ajeeta B Dash, Neeraj Gupta, Richard Labotka, S Vincent Rajkumar
BACKGROUND: Maintenance therapy following autologous stem cell transplantation (ASCT) can delay disease progression and prolong survival in patients with multiple myeloma. Ixazomib is ideally suited for maintenance therapy given its convenient once-weekly oral dosing and low toxicity profile. In this study, we aimed to determine the safety and efficacy of ixazomib as maintenance therapy following ASCT. METHODS: The phase 3, double-blind, placebo-controlled TOURMALINE-MM3 study took place in 167 clinical or hospital sites in 30 countries in Europe, the Middle East, Africa, Asia, and North and South America...
December 10, 2018: Lancet
Sara Benitez Majano, Chiara Di Girolamo, Bernard Rachet, Camille Maringe, Marianne Grønlie Guren, Bengt Glimelius, Lene Hjerrild Iversen, Edrun Andrea Schnell, Kristina Lundqvist, Jane Christensen, Melanie Morris, Michel P Coleman, Sarah Walters
BACKGROUND: Survival from colorectal cancer has been shown to be lower in Denmark and England than in comparable high-income countries. We used data from national colorectal cancer registries to assess whether differences in the proportion of patients receiving resectional surgery could contribute to international differences in colorectal cancer survival. METHODS: In this population-based study, we collected data from all patients aged 18-99 years diagnosed with primary, invasive, colorectal adenocarcinoma from Jan 1, 2010, to Dec 31, 2012, in Denmark, England, Norway, and Sweden, from national colorectal cancer registries...
December 10, 2018: Lancet Oncology
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