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https://www.readbyqxmd.com/read/29159074/only-some-patients-with-bulbar-and-spinal-muscular-atrophy-may-develop-cardiac-disease
#1
Josef Finsterer, Claudia Stöllberger
Objectives: According to recent publications, some patients with spinal and bulbar muscular atrophy (BSMA) develop cardiac disease, manifesting as ST-segment abnormalities, Brugada-syndrome, dilative cardiomyopathy, or sudden cardiac death. Here we present neurological and cardiac data of a BSMA patient who was followed up for 10 y. Case report: In a male patient aged 47 y, BSMA was diagnosed at age 37 y upon the typical clinical presentation (postural tremor since age 12 y, dysarthria since age 15 y, muscle cramps since age 29 y, general myalgias since age 32 y, general fasciculations since age 34 y, myoclonic jerks, easy fatigability, dyspnea upon exercise since age 36 y) and a CAG-repeat expansion of 47 ± 1 repeats in the androgen-receptor gene detected at age 37 y...
March 2018: Molecular Genetics and Metabolism Reports
https://www.readbyqxmd.com/read/29158528/fine-mapping-of-genetic-loci-driving-spontaneous-clearance-of-hepatitis-c-virus-infection
#2
Hailiang Huang, Priya Duggal, Chloe L Thio, Rachel Latanich, James J Goedert, Alessandra Mangia, Andrea L Cox, Gregory D Kirk, Shruti Mehta, Jasneet Aneja, Laurent Alric, Sharyne M Donfield, Matthew E Cramp, Salim I Khakoo, Leslie H Tobler, Michael Busch, Graeme J Alexander, Hugo R Rosen, Brian R Edlin, Florencia P Segal, Georg M Lauer, David L Thomas, Mark J Daly, Raymond T Chung, Arthur Y Kim
Approximately three quarters of acute hepatitis C (HCV) infections evolve to a chronic state, while one quarter are spontaneously cleared. Genetic predispositions strongly contribute to the development of chronicity. We have conducted a genome-wide association study to identify genomic variants underlying HCV spontaneous clearance using ImmunoChip in European and African ancestries. We confirmed two previously reported significant associations, in the IL28B/IFNL4 and the major histocompatibility complex (MHC) regions, with spontaneous clearance in the European population...
November 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29155036/effectiveness-of-app-based-self-acupressure-for-women-with-menstrual-pain-compared-to-usual-care-a-randomized-pragmatic-trial
#3
Susanne Blödt, Daniel Pach, Sanna von Eisenhart-Rothe, Fabian Lotz, Stephanie Roll, Katja Icke, Claudia M Witt
BACKGROUND: Primary dysmenorrhea is common among women of reproductive age. Non-steroidal anti-inflammatory drugs and oral contraceptives are effective treatments, although the failure rate is around 20-25%. Therefore additional evidence-based treatments are needed. In recent years, the use of smartphone applications (apps) has increased rapidly and may support individuals in self-management strategies. OBJECTIVE: We aimed to investigate the effectiveness of app-based self-acupressure in women with menstrual pain...
November 15, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29148155/identifying-biomechanical-gait-parameters-in-adolescent-boys-with-haemophilia-using-principal-component-analysis
#4
L B Suckling, D Stephensen, M C Cramp, R Mahaffey, W I Drechsler
INTRODUCTION: Improvements in the medical management for those with haemophilia have resulted in improved clinical outcomes. However, current treatment regimens do not alleviate all joint haemarthroses with the potential for long-term joint deterioration remaining. The evaluation of functional activities such as gait, using standardized tools to monitor children with haemophilia is emerging. AIM: This study explored differences in sagittal plane biomechanics of walking in adolescent boys aged 11-18 years with haemophilia and an age-matched group of typically developing boys...
November 17, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/29145631/rifaximin-fails-to-prevent-campylobacteriosis-in-the-human-challenge-model-a-randomized-double-blind-placebo-controlled-trial
#5
Joanna E Rimmer, Clayton Harro, David A Sack, Kawsar R Talaat, Ramiro L Gutierrez, Barbara DeNearing, Jessica Brubaker, Renee M Laird, Frédéric Poly, Alexander C Maue, Kayla Jaep, Ashley Alcala, Yelizaveta Mochalova, Christina L Gariepy, Subhra Chakraborty, Patricia Guerry, David R Tribble, Chad K Porter, Mark S Riddle
Background: Campylobacter species are a leading cause of diarrheal disease globally with significant morbidity. Primary prevention efforts have yielded limited results. Rifaximin chemoprophylaxis decreases travelers' diarrhea rates and may be suitable for high risk persons. We assessed the efficacy of rifaximin in the controlled human infection model (CHIM) for Campylobacter jejuni. Methods: Twenty-eight subjects were admitted to an inpatient facility and randomized to a twice daily dose of 550 mg rifaximin or placebo...
November 14, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/29142797/cervical-funneling-potential-pitfall-of-point-of-care-pelvic-ultrasound
#6
Lori A Stolz, Richard Amini, Elaine H Situ-LaCasse, Faryal Shareef, Heather A Reed, Srikar Adhikari
Though point-of-care ultrasound applications continue to expand, there are findings that are not within the scope of emergency ultrasound. It is important for emergency physicians to be aware of incidental findings that can be identified on comprehensive ultrasounds performed by other imaging departments in order to fully understand the limitations of bedside ultrasound. In this case, a gravid patient presented to the emergency department with pelvic cramping and vaginal bleeding. Point-of-care transabdominal pelvic ultrasound examination was performed and demonstrated cervical funneling...
September 3, 2017: Curēus
https://www.readbyqxmd.com/read/29132849/treatment-of-vismodegib-associated-muscle-cramps-with-cyclobenzaprine-a-retrospective-review
#7
Yul W Yang, James B Macdonald, Steven A Nelson, Aleksandar Sekulic
No abstract text is available yet for this article.
December 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/29123930/chronic-myeloid-leukemia-with-an-e6a2-bcr-abl1-fusion-transcript-cooperating-mutations-at-blast-crisis-and-molecular-monitoring
#8
Mireille Crampe, Karl Haslam, Emma Groarke, Eileen Kelleher, Derville O'Shea, Eibhlin Conneally, Stephen E Langabeer
A minority of chronic myeloid leukemia patients (CML) express a variety of atypical BCR-ABL1 fusion variants and, of these, the e6a2 BCR-ABL1 fusion is generally associated with an aggressive disease course. Progression of CML to blast crisis is associated with acquisition of additional somatic mutations yet these events have not been elucidated in patients with the e6a2 BCR-ABL1 genotype. Moreover, molecular monitoring is only sporadically performed in CML patients with atypical BCR-ABL1 fusion transcripts due to lack of consensus approaches or standardization...
2017: Case Reports in Hematology
https://www.readbyqxmd.com/read/29120993/restless-legs-syndrome-and-nocturnal-leg-cramps-review-and-guide-to-diagnosis-and-treatment
#9
Philip W Tipton, Zbigniew K Wszołek
Restless legs syndrome (RLS) and nocturnal leg cramps (NLC) are common disorders effecting 7.0% and 24.1% in some European countries, respectively. Patients suffering from RLS experience uncomfortable nocturnal sensations in the legs with the urge to move that dissipates while moving. NLC is characterized by the presence of abrupt contraction of muscles, most often in the gastrocnemius or foot muscles that occurs at night and may result in significant sleep disturbances. Diagnosis of these disorders has presented a challenge to healthcare providers due to symptom overlap with other sensory and motor disturbances with nocturnal predominance...
November 9, 2017: Polish Archives of Internal Medicine
https://www.readbyqxmd.com/read/29120301/antimicrobial-susceptibility-virulence-potential-and-sequence-types-associated-with-arcobacter-strains-recovered-from-human-faeces
#10
Alba Pérez-Cataluña, Josepa Tapiol, Clara Benavent, Carolina Sarvisé, Frederic Gómez, Bruno Martínez, Margarida Terron-Puig, Gemma Recio, Angels Vilanova, Isabel Pujol, Frederic Ballester, Antonio Rezusta, María Jose Figueras
PURPOSE: The genus Arcobacter includes bacteria that are considered emergent pathogens because they can produce infections in humans and animals. The most common symptoms are bloody and non-bloody persistent diarrhea but cases with abdominal cramps without diarrhea or asymptomatic cases have also been described as well as cases with bacteremia. The objective was to characterize Arcobacter clinical strains isolated from the faeces of patients from three Spanish hospitals. METHODOLOGY: We have characterized 28 clinical strains (27 of A...
November 9, 2017: Journal of Medical Microbiology
https://www.readbyqxmd.com/read/29109905/abnormalities-of-eye-hand-coordination-in-patients-with-writer-s-cramp-possible-role-of-the-cerebellum
#11
Ketan Jhunjhunwala, Raviteja Kotikalapudi, Abhishek Lenka, Kandavel Thennarassu, Ravi Yadav, Jitender Saini, Pramod Kumar Pal
Background: Writer's cramp (WC) is one of the commonly observed focal dystonias. The pathophysiology of WC has not been fully understood. The role of the cerebellum has been increasingly recognized in the pathogenesis of dystonia. As the cerebellum is crucial for maintaining accurate eye-hand coordination (EHC), its role in the pathogenesis of WC can be investigated by studying the EHC in patients with WC. Methods: Fifteen patients with WC (women:men, 3:12) and 15 age- and gender-matched controls performed oculomotor and EHC tasks...
2017: Tremor and Other Hyperkinetic Movements
https://www.readbyqxmd.com/read/29100934/chemical-characterization-and-cytotoxic-genotoxic-and-mutagenic-properties-of-baccharis-trinervis-lam-persoon-from-colombia-and-brazil
#12
Victoria Jaramillo-García, Cristiano Trindade, Elisiane Lima, Temenouga N Guecheva, Izabel Villela, Wilner Martinez-Lopez, Dione S Corrêa, Alexandre de B F Ferraz, Sidnei Moura, Milton Quintana Sosa, Juliana Da Silva, João Antônio Pegas Henriques
PHARMACOLOGY RELEVANCE: Baccharis trinervis leaves are used in the traditional medicine for the treatment of high fevers, edema, inflammation, sores and muscle cramps, snakebites and as antiseptics. AIM OF THE STUDY: To investigate the cytotoxic, genotoxic, and mutagenic effects of extracts and fractions of B. trinervis from Brazil and Colombia in Chinese Hamster Ovary (CHO) cells, as well as the mutagenic activity in Salmonella typhimurium. MATERIAL AND METHODS: Aqueous extracts (AE) of aerial parts of B...
October 31, 2017: Journal of Ethnopharmacology
https://www.readbyqxmd.com/read/29098622/peripheral-vascular-disease-the-beneficial-effect-of-exercise-in-peripheral-vascular-diseases-based-on-clinical-trials
#13
Basant M Elnady, Ayman Saeed
Intermittent claudication (IC) due to peripheral artery diseases (PAD) is one of the disabling disease that can affect quality of life (QOL) and functional status of capacity. It is characterized by cramping pain which develops with exercise and eliminated by rest secondary to decrease blood flow to the muscles. The annual incidence rate is increased with age. Exercise rehabilitation has a great impact in improving the functional capacity and prevent the functional disability. The available evidences from current studies have showed that exercise therapy is considered the primary treatment in PAD, which in consequently improves the QOL...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/29098108/vaginal-cuff-dehiscence-presenting-with-free-air-60-days-after-robotic-assisted-hysterectomy
#14
D Munger, M Iannamorelli, C Galvez, C Service
Introduction: The vast majority of patients presenting with pneumoperitoneum have visceral organ perforation and require urgent diagnostic laparoscopy. Nonsurgical causes are relatively rare and may be attributed to multiple etiologies. Case Presentation: Here we describe the case of a 38-year-old Caucasian female who presented to the emergency department with three days of cramping, epigastric abdominal pain. Her physical exam was notable for tenderness to palpation in the epigastric area and abdominal and chest X-rays showed free air under the diaphragm...
2017: Case Reports in Surgery
https://www.readbyqxmd.com/read/29097175/characteristics-of-patients-and-patterns-of-chronic-venous-disease-of-the-lower-limbs-in-a-referral-hospital-in-cameroon
#15
Marcus Fokou, Boniface Moifo, Emmanuel Fongang, Abel Teyang, Wallinjon Muna
OBJECTIVE: The objective of this study was to investigate the magnitude of chronic venous disease (CVD) in sub-Saharan Africa, specifically the characteristics of the patients, the symptoms, the signs, and the severity. METHODS: From December 2013 to December 2016, a cross-sectional study was conducted of all consecutive patients with CVD aged ≥18 years and attending the outpatient clinic of the Yaoundé General Hospital in Cameroon. We recorded information on demographics, relevant medical history, symptoms, lifestyle, and clinical presentation...
October 30, 2017: Journal of Vascular Surgery. Venous and Lymphatic Disorders
https://www.readbyqxmd.com/read/29094908/treatments-for-nocturnal-leg-cramps
#16
Jackie Herzberg, James Stevermer
No abstract text is available yet for this article.
October 1, 2017: American Family Physician
https://www.readbyqxmd.com/read/29093236/primary-hyperaldosteronism-due-to-adrenocortical-adenoma-a-case-report
#17
Tjokorda Gde Dalem Pemayun, Ridho Naibaho, Maretina W Wiyati, Ardy Santosa, Siti Amarwati
Primary hyperaldosteronism is an adrenal abnormality in which there is some degree of autonomy of aldosterone secretion. We report a case of thirty three years old Javanese female presented with uncontrolled hypertension, muscular weakness, cramps  and progressing shortness of breath during working for 6 years. She had history of hypertension since age 20. Her serum potassium level was always low that associated with inappropriate kaliuresis. Blood gas analysis revealed metabolic alkalosis. Sonography of the adrenal gland showed right hipoechoic architecture; CT scan of the abdomen confirmed an right adrenal tumor measured 4 cm in its greatest dimension...
July 2017: Acta Medica Indonesiana
https://www.readbyqxmd.com/read/29091929/the-cathelicidin-protein-cramp-is-a-potential-atherosclerosis-self-antigen-in-apoe-mice
#18
Peter M Mihailovic, Wai Man Lio, Juliana Yano, Xiaoning Zhao, Jianchang Zhou, Kuang-Yuh Chyu, Prediman K Shah, Bojan Cercek, Paul C Dimayuga
Auto-immunity is believed to contribute to inflammation in atherosclerosis. The antimicrobial peptide LL-37, a fragment of the cathelicidin protein precursor hCAP18, was previously identified as an autoantigen in psoriasis. Given the reported link between psoriasis and coronary artery disease, the biological relevance of the autoantigen to atherosclerosis was tested in vitro using a truncated (t) form of the mouse homolog of hCAP18, CRAMP, on splenocytes from athero-prone ApoE(-/-) mice. Stimulation with tCRAMP resulted in increased CD8+ T cells with Central Memory and Effector Memory phenotypes in ApoE(-/-) mice, differentially activated by feeding with normal chow or high fat diet...
2017: PloS One
https://www.readbyqxmd.com/read/29089787/left-sided-incarcerated-amyand-s-hernia-with-cecum-and-terminal-ileum-a-case-report
#19
Kebebe Bekele, Desalegn Markos
BACKGROUND: Amyand's hernia, which is the presence of a normal or pathological appendix as a part of an inguinal hernia, is a rare clinical entity. We are reporting a very rare case of left-sided incarcerated Amyand's hernia with cecum and terminal ileum involvement. CASE PRESENTATION: A 4-year-old male child with left inguinal swelling of 2-year duration presented to Goba Referral Hospital. Two days before the patient visited our hospital, the swelling had become irreducible and caused severe groin pain...
2017: International Medical Case Reports Journal
https://www.readbyqxmd.com/read/29079312/idiopathic-constipation-a-challenging-but-manageable-problem
#20
Andrea Bischoff, Giulia Brisighelli, Belinda Dickie, Jason Frischer, Marc A Levitt, Alberto Peña
PURPOSE: A protocol to treat idiopathic constipation is presented. METHODS: A contrast enema is performed in every patient and, when indicated, patients are initially submitted to a "clean out" protocol. All patients are started on a Senna-based laxative. The initial dosage is empirically determined and adjusted daily, during a one week period, based on history and abdominal radiographs, until the amount of Senna that empties the colon is reached. The management is considered successful when patients empty their colon daily and stop soiling...
October 10, 2017: Journal of Pediatric Surgery
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