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one and a half syndrome

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https://www.readbyqxmd.com/read/28213128/quantitative-proteomic-analysis-of-human-testis-reveals-system-wide-molecular-and-cellular-pathways-associated-with-non-obstructive-azoospermia
#1
Mehdi Alikhani, Mehdi Mirzaei, Marjan Sabbaghian, Pouria Parsamatin, Razieh Karamzadeh, Samane Adib, Niloofar Sodeifi, Mohammad Ali Sadighi Gilani, Masoud Zabet-Moghaddam, Lindsay Parker, Yunqi Wo, Vivek Gupta, Paul A Haynes, Hamid Gourabi, Hossein Baharvand, Ghasem Hosseini Salekdeh
: Male infertility accounts for half of the infertility problems experienced by couples. Azoospermia, having no measurable level of sperm in seminal fluid, is one of the known conditions resulting in male infertility. In order to elucidate the complex molecular mechanisms causing male azoospermia, label-free quantitative shotgun proteomics was carried out on testicular tissue specimens from patients with obstructive azoospermia and non-obstructive azoospermia, including maturation arrest (MA) and Sertoli cell only syndrome (SCOS)...
February 14, 2017: Journal of Proteomics
https://www.readbyqxmd.com/read/28198635/impact-of-comorbidities-by-age-on-symptom-presentation-for-suspected-acute-coronary-syndromes-in-the-emergency-department
#2
Larisa A Burke, Anne G Rosenfeld, Mohamud R Daya, Karen M Vuckovic, Jessica K Zegre-Hemsey, Maria Felix Diaz, Josemare Tosta Daiube Santos, Sahereh Mirzaei, Holli A DeVon
BACKGROUND: It is estimated half of acute coronary syndrome (ACS) patients have one or more associated comorbid conditions. AIMS: Aims were to: 1) examine the prevalence of comorbid conditions in patients presenting to the emergency department with symptoms suggestive of ACS; 2) determine if comorbid conditions influence ACS symptoms; and 3) determine if comorbid conditions predict the likelihood of receiving an ACS diagnosis. METHODS: A total of 1064 patients admitted to five emergency departments were enrolled in this prospective study...
February 1, 2017: European Journal of Cardiovascular Nursing
https://www.readbyqxmd.com/read/28178980/novel-neuro-audiological-findings-and-further-evidence-for-twnk-involvement-in-perrault-syndrome
#3
Monika Ołdak, Dominika Oziębło, Agnieszka Pollak, Iwona Stępniak, Michal Lazniewski, Urszula Lechowicz, Krzysztof Kochanek, Mariusz Furmanek, Grażyna Tacikowska, Dariusz Plewczynski, Tomasz Wolak, Rafał Płoski, Henryk Skarżyński
BACKGROUND: Hearing loss and ovarian dysfunction are key features of Perrault syndrome (PRLTS) but the clinical and pathophysiological features of hearing impairment in PRLTS individuals have not been addressed. Mutations in one of five different genes HSD17B4, HARS2, LARS2, CLPP or TWNK (previous symbol C10orf2) cause the autosomal recessive disorder but they are found only in about half of the patients. METHODS: We report on two siblings with a clinical picture resembling a severe, neurological type of PRLTS...
February 8, 2017: Journal of Translational Medicine
https://www.readbyqxmd.com/read/28178715/infectious-causes-of-right-middle-lobe-syndrome
#4
Aatif Rashid, Sowmya Nanjappa, John N Greene
Right middle lobe (RML) syndrome is defined as recurrent or chronic obstruction or infection of the middle lobe of the right lung. Nonobstructive causes of middle lobe syndrome include inflammatory processes and defects in the bronchial anatomy and collateral ventilation. We report on 2 case patients with RML syndrome, one due to infection with Mycobacterium avium complex followed by M asiaticum infection and the other due to allergic bronchopulmonary aspergillosis. A history of atopy, asthma, or chronic obstructive pulmonary disease has been reported in up to one-half of those with RML...
January 2017: Cancer Control: Journal of the Moffitt Cancer Center
https://www.readbyqxmd.com/read/28167398/prevalence-of-prolonged-grief-disorder-in-adult-bereavement-a-systematic-review-and-meta-analysis
#5
REVIEW
Marie Lundorff, Helle Holmgren, Robert Zachariae, Ingeborg Farver-Vestergaard, Maja O'Connor
BACKGROUND: Prolonged grief disorder (PGD) is a bereavement-specific syndrome expected to be included in the forthcoming ICD-11. Defining the prevalence of PGD will have important nosological, clinical, and therapeutic implications. The present systematic review and meta-analysis aimed to estimate the prevalence rate of PGD in the adult bereaved population, identify possible moderators, and explore methodological quality of studies in this area. METHODS: A systematic literature search was conducted in PubMed, PsycINFO, Embase, Web of Science, and CINAHL...
January 23, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28159327/non-invasive-transcutaneous-supraorbital-neurostimulation-tsns-using-cefaly-%C3%A2-device-in-prevention-of-primary-headaches
#6
Anna Przeklasa-Muszyńska, Kinga Skrzypiec, Magdalena Kocot-Kępska, Jan Dobrogowski, Maciej Wiatr, Joanna Mika
Headaches are one of the most common pain syndromes experienced by adult patients. International Classification of Headache Disorders identifies about 300 different entities. Primary headaches (migraine, tension-type headache, trigeminal autonomic cephalalgias, other primary headaches) has the common occurrence. Although effective treatment of these disorders is possible, it is inefficient or poorly tolerated in some patients. Neuromodulation methods, being element of multimodal treatment, provide an additional treatment option in pharmacotherapy-refractory patients...
January 20, 2017: Neurologia i Neurochirurgia Polska
https://www.readbyqxmd.com/read/28157260/incidence-of-fragile-x-syndrome-in-ireland
#7
James J O'Byrne, Michael Sweeney, Deirdre E Donnelly, Deborah M Lambert, Eleanor D Beattie, Celine M Gervin, David E Barton, Sally A Lynch
Described as the commonest single gene cause of learning disability internationally, the incidence of Fragile X syndrome (FXS) has never previously been determined in Ireland. The aim of this work was to determine the observed incidence of FXS in the island of Ireland; the Republic of Ireland (ROI) and Northern Ireland (NI) separately and combined. Ascertainment was achieved for a cross-sectional study by a retrospective, clinical and laboratory database review of positive FXS cases, born in either ROI or NI, between years 2000-2009 inclusive...
February 3, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28156595/scrambler-therapy-for-the-treatment-of-chronic-post-mastectomy-pain-cpmp-in-breast-cancer-survivors
#8
Charles L Loprinzi, Andrea L Cheville
: 253 Background: cPMP is chronic pain in the front thorax, axilla, and/or upper half of the arm beginning after mastectomy or lumpectomy persisting > 3 months after treatment and presents with pain, allodynia and disability. cPMP occurs in half of all patients with breast cancer and is severe in 13% (Gartner R JAMA 2009). Epidural bupivacaine, memantine, gabapentin or venlafaxine may help prevent cPMP, but there are no established proven treatments. (Shen J, Up to Date 2016) Scrambler therapy (ST) is an FDA-cleared treatment for neuropathic pain supported by multiple trials in over 800 patients with cancer pain, chemotherapy induced neuropathic pain, back pain, and post herpetic neuropathy (PHN)...
October 9, 2016: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28146269/the-prevalence-and-management-of-angina-among-patients-with-chronic-coronary-artery-disease-across-us-outpatient-cardiology-practices-insights-from-the-angina-prevalence-and-provider-evaluation-of-angina-relief-appear-study
#9
Faraz Kureshi, Ali Shafiq, Suzanne V Arnold, Kensey Gosch, Tracie Breeding, Ashwath S Kumar, Philip G Jones, John A Spertus
Although eliminating angina is a primary goal in treating patients with chronic coronary artery disease (CAD), few contemporary data quantify prevalence and severity of angina across US cardiology practices. The authors hypothesized that angina among outpatients with CAD managed by US cardiologists is low and its prevalence varies by site. Among 25 US outpatient cardiology clinics enrolled in the American College of Cardiology Practice Innovation and Clinical Excellence (PINNACLE) registry, we prospectively recruited a consecutive sample of patients with chronic CAD over a 1- to 2-week period at each site between April 2013 and July 2015, irrespective of the reason for their appointment...
January 2017: Clinical Cardiology
https://www.readbyqxmd.com/read/28138914/obstetric-and-perinatal-outcome-in-anti-ro-ssa-positive-pregnant-women-a-prospective-cohort-study
#10
Nuria Martínez-Sánchez, Sergio Pérez-Pinto, Ángel Robles-Marhuenda, Francisco Arnalich-Fernández, María Martín Cameán, Edurne Hueso Zalvide, Jose Luis Bartha
: Anti-Ro/SS-A is one specific type of antinuclear antibodies. They are in the majority of cases associated with primary Sjögren syndrome (SS) but also in Systemic Lupus Erythematosus (SLE), rheumatoid arthritis (RA), and in healthy people. During pregnancy, they are mainly associated to congenital heart block (CHB) and neonatal lupus (NL). The aim of this study was to compare the rate of maternal and fetal complications between a series of anti-Ro/SS-A positive pregnant women prospectively followed...
January 30, 2017: Immunologic Research
https://www.readbyqxmd.com/read/28138267/a-case-of-18p-deletion-syndrome-after-blepharoplasty
#11
Li-Juan Xu, Lv-Xian Wu, Qing Yuan, Zhi-Gang Lv, Xue-Yan Jiang
OBJECTIVE: The deletion of the short arm of chromosome 18 is thought to be one of the rare chromosomal aberrations. Here, we report a case to review this disease. CASE REPORT: The proband is a five-and-a-half-year-old girl who has had phenotypes manifested mainly by ptosis, broad face, broad neck with low posterior hairline, mental retardation, short stature, and other malformations. Chromosomal analysis for her mother showed a normal karyotype. Her father and younger brother were phenotypically normal...
2017: International Medical Case Reports Journal
https://www.readbyqxmd.com/read/28137897/blood-brain-and-binocular-vision
#12
Egle Rostron, Mary Polly Dickerson, Gregory Heath
A man aged 51 years presented with sudden onset, horizontal, binocular, double vision and right facial weakness. Ocular motility examination demonstrated a right horizontal gaze palsy pattern in keeping with a one-and-a-half syndrome. Since this was associated with a concomitant, ipsilateral, lower motor neuron (LMN) facial (VIIth) cranial nerve palsy, he had acquired an eight-and-a-half syndrome. Diffusion-weighted MRI confirmed a small infarcted area in the pons of the brainstem which correlated with anatomical location of the horizontal gaze centre and VIIth cranial nerve fasciculus...
January 30, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28135185/sugar-sweetened-beverage-consumption-among-u-s-adults-2011-2014
#13
Asher Rosinger, Kirsten Herrick, Jaime Gahche, Sohyun Park
Data from the National Health and Nutrition Examination Survey •Approximately one-half of U.S. adults consumed at least one sugar-sweetened beverage on a given day. •Men consumed an average 179 kilocalories (kcal) from sugar-sweetened beverages, which contributed 6.9% of total daily caloric intake. Women consumed an average 113 kcal from sugar-sweetened beverages, which contributed 6.1% of total caloric intake. •Young adults had the highest mean intake and percentage of daily calories from sugar-sweetened beverages relative to older adults...
January 2017: NCHS Data Brief
https://www.readbyqxmd.com/read/28119041/a-multi-center-open-label-randomized-phase-iii-trial-of-first-line-chemotherapy-with-capecitabine-monotherapy-versus-capecitabine-plus-oxaliplatin-in-elderly-patients-with-advanced-gastric-cancer
#14
In Gyu Hwang, Jun Ho Ji, Jung Hun Kang, Hyo Rak Lee, Hui-Young Lee, Kyong-Choun Chi, Suk Won Park, Su Jin Lee, Seung Tae Kim, Jeeyun Lee, Se Hoon Park, Joon Oh Park, Young Suk Park, Ho Yeong Lim, Won Ki Kang
OBJECTIVES: More than half of cases of gastric cancer (GC) are diagnosed in elderly patients (≥70years). While doublet combination with fluoropyrimidines and platinum is currently considered standard first-line chemotherapy in advanced GC, the main goal of chemotherapy remains palliation. MATERIALS AND METHODS: In a multi-center phase III trial, patients with chemotherapy-naïve, metastatic GC, aged 70years or older were randomized 1:1 to receive X monotherapy (capecitabine 1000mg/m(2) bid po on days one to fourteen) or XELOX (X plus oxaliplatin 110mg/m(2) iv on D1)...
January 21, 2017: Journal of Geriatric Oncology
https://www.readbyqxmd.com/read/28114415/managing-neonatal-and-early-childhood-syndromic-sepsis-in-sub-district-hospitals-in-resource-poor-settings-improvement-in-quality-of-care-through-introduction-of-a-package-of-interventions-in-rural-bangladesh
#15
Ahmed Ehsanur Rahman, Afrin Iqbal, D M Emdadul Hoque, Md Moinuddin, Sojib Bin Zaman, Qazi Sadeq-Ur Rahman, Tahmina Begum, Atique Iqbal Chowdhury, Rafiqul Haider, Shams El Arifeen, Niranjan Kissoon, Charles P Larson
INTRODUCTION: Sepsis is dysregulated systemic inflammatory response which can lead to tissue damage, organ failure, and death. With an estimated 30 million cases per year, it is a global public health concern. Severe infections leading to sepsis account for more than half of all under five deaths and around one quarter of all neonatal deaths annually. Most of these deaths occur in low and middle income countries and could be averted by rapid assessment and appropriate treatment. Evidence suggests that service provision and quality of care pertaining to sepsis management in resource poor settings can be improved significantly with minimum resource allocation and investments...
2017: PloS One
https://www.readbyqxmd.com/read/28112551/choice-making-in-rett-syndrome-a-descriptive-study-using-video-data
#16
Anna Urbanowicz, Natalie Ciccone, Sonya Girdler, Helen Leonard, Jenny Downs
PURPOSE: To describe the choice-making abilities of girls and women with Rett syndrome. METHOD: Females with Rett syndrome registered with the Australian Rett Syndrome Database with a pathogenic MECP2 mutation were included in this study. Video clips showing choice making in 64 females at a median age of 11.6 years (range 2.3-35.6 years) were analysed. Video clips were coded for the location and nature of the choice-making interaction, and the actions of the communication partner and female with Rett syndrome...
January 23, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28111177/characteristics-and-survival-determinants-in-patients-after-out-of-hospital-cardiac-arrest-in-the-era-of-24-7-coronary-intervention-facilities
#17
Josef Kroupa, Jiri Knot, Jaroslav Ulman, Frantisek Bednar, Alena Dohnalova, Zuzana Motovska
BACKGROUND: Survival rates and outcomes after out-of-hospital cardiac arrest (OHCA) remain low despite investments of time and money. The goal of this analysis was to identify variables related to survival of patients transferred to our coronary care unit (CCU) after an OHCA. METHODS: 102 consecutive OHCA patients, mean age 64.6 (SD 13.3), 70.6% men, between January, 2011 and December, 2013, who were transferred to our tertiary care CCU, were studied. RESULTS: Cardiac-cause OHCA was present in 84 patients (82...
December 24, 2016: Heart, Lung & Circulation
https://www.readbyqxmd.com/read/28110970/-plasma-exchange-in-nephrology-indications-and-technique
#18
Christophe Ridel, Sébastien Kissling, Laurent Mesnard, Alexandre Hertig, Éric Rondeau
Plasma exchange is a non-selective apheresis technique that can be performed by filtration or centrifugation allowing rapid purification of high molecular weight pathogens. An immunosuppressive treatment is generally associated to reduce the rebound effect of the purified substance. Substitution solutes such as human albumin and macromolecules are needed to compensate for plasma extraction. Compensation by viro-attenuated plasma is reserved solely for the treatment of thrombotic microangiopathies or when there is a risk of bleeding, because this product is very allergenic and expensive...
January 16, 2017: Néphrologie & Thérapeutique
https://www.readbyqxmd.com/read/28104770/decline-in-cardiovascular-mortality-possible-causes-and-implications
#19
REVIEW
George A Mensah, Gina S Wei, Paul D Sorlie, Lawrence J Fine, Yves Rosenberg, Peter G Kaufmann, Michael E Mussolino, Lucy L Hsu, Ebyan Addou, Michael M Engelgau, David Gordon
If the control of infectious diseases was the public health success story of the first half of the 20th century, then the decline in mortality from coronary heart disease and stroke has been the success story of the century's past 4 decades. The early phase of this decline in coronary heart disease and stroke was unexpected and controversial when first reported in the mid-1970s, having followed 60 years of gradual increase as the US population aged. However, in 1978, the participants in a conference convened by the National Heart, Lung, and Blood Institute concluded that a significant recent downtick in coronary heart disease and stroke mortality rates had definitely occurred, at least in the US Since 1978, a sharp decline in mortality rates from coronary heart disease and stroke has become unmistakable throughout the industrialized world, with age-adjusted mortality rates having declined to about one third of their 1960s baseline by 2000...
January 20, 2017: Circulation Research
https://www.readbyqxmd.com/read/28103142/mapping-of-calf-death-in-japanese-black-cattle
#20
Takashi Hirano, Shota Nishimura, Hiromi Hara, Yoshikazu Sugimoto, Kei Hanzawa
Weak calf syndrome (WCS) is a major cause of calf death in Japanese Black cattle. Among IARS disorders, the isoleucyl-tRNA synthetase c.235G>C mutation has been identified as one of the causes of WCS. However, calf deaths differing from those attributed to IARS disorder has been occurring. To identify other genes potentially responsible for these calf deaths, we constructed three populations of three bulls (Bull-1, -2 and -3) that did not carry the IARS mutation, and dead calves (18, 28, and 31 calves) and healthy cattle (18, 15, and 10 cattle) sired by these bulls...
January 19, 2017: Animal Biotechnology
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