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https://www.readbyqxmd.com/read/27922496/metabolic-myopathies
#1
Mark A Tarnopolsky
PURPOSE OF REVIEW: Metabolic myopathies are genetic disorders that impair intermediary metabolism in skeletal muscle. Impairments in glycolysis/glycogenolysis (glycogen-storage disease), fatty acid transport and oxidation (fatty acid oxidation defects), and the mitochondrial respiratory chain (mitochondrial myopathies) represent the majority of known defects. The purpose of this review is to develop a diagnostic and treatment algorithm for the metabolic myopathies. RECENT FINDINGS: The metabolic myopathies can present in the neonatal and infant period as part of more systemic involvement with hypotonia, hypoglycemia, and encephalopathy; however, most cases present in childhood or in adulthood with exercise intolerance (often with rhabdomyolysis) and weakness...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27917434/what-factors-determine-the-need-for-lumbar-puncture-in-patients-with-fever-and-headache
#2
Ki Joong Kim, Jun Hwi Cho, Joong Bum Moon, Myoung Cheol Shin, Taek Geun Ohk, Hui Young Lee, Chan Woo Park
INTRODUCTION: We performed this study to search for clinical features and laboratory parameters that could facilitate the process of selection of patients who should receive lumbar punctures among those presenting with headache and fever. METHODS: We selected all patients aged ≥ 16 years who presented to and received lumbar puncture in the emergency department (ED) of Kangwon National University Hospital, South Korea, between 2011 and 2013. Patients who received a lumbar puncture were divided into two groups - patients diagnosed with viral meningitis and those that were not...
December 5, 2016: Singapore Medical Journal
https://www.readbyqxmd.com/read/27916384/antimicrobial-resistance-and-molecular-subtypes-of-salmonella-enterica-serovar-typhi-isolates-from-kolkata-india-over-a-15-years-period-1998-2012
#3
Surojit Das, Sriparna Samajpati, Ujjwayini Ray, Indranil Roy, Shanta Dutta
Typhoid fever, caused by Salmonella enterica serovar Typhi (S. Typhi), remains an unresolved public health problem in India. Emergence of antimicrobial resistant strains poses a great concern for typhoid treatment and influences reshaping of current S. Typhi population. We included representative S. Typhi strains (n=164) from retrospective studies, both community and hospital based, conducted at National Institute of Cholera and Enteric Diseases, Kolkata during 15 years period (1998-2012) to analyze their antimicrobial resistance (AMR) profiles, mechanism of AMR and molecular subtypes of the strains...
November 25, 2016: International Journal of Medical Microbiology: IJMM
https://www.readbyqxmd.com/read/27913754/neurological-manifestations-in-children-with-dengue-fever-an-indian-perspective
#4
Archan Sil, Tamoghna Biswas, Moumita Samanta, Mithun Chandra Konar, Arun Kumar De, Jasodhara Chaudhuri
Ours was a descriptive observational cross-sectional study carried out in a tertiary care hospital in eastern India over a period of one year to study the profile of neurological involvement in paediatric dengue patients. Of 71 laboratory-confirmed cases, 20 (28.17%) had neurological involvement. Common forms observed were acute encephalopathy (40%), encephalitis (30%), pure motor weakness (15%), transverse myelitis (5%), acute disseminated encephalomyelitis (5%) and Guillain-Barré syndrome (5%). The dengue IgM antibody could be detected in the cerebrospinal fluid of only two patients with encephalitis...
December 2, 2016: Tropical Doctor
https://www.readbyqxmd.com/read/27910184/clinical-significance-of-pre-transplant-circulating-cd3-cd4-cd161-cell-frequency-on-the-occurrence-of-neutropenic-infections-after-allogeneic-stem-cell-transplantation
#5
Tae Woo Kim, Sung-Eun Lee, Ji-Young Lim, Da-Bin Ryu, Young-Woo Jeon, Jae-Ho Yoon, Byung-Sik Cho, Ki-Seong Eom, Yoo-Jin Kim, Hee-Je Kim, Seok Lee, Seok-Goo Cho, Dong-Wook Kim, Jong Wook Lee, Woo-Sung Min, Chang-Ki Min
BACKGROUND: Few studies have been performed to identify factors that are associated with an increased risk of infections during the neutropenic period in patients undergoing allogeneic stem cell transplantation (allo-SCT). The aim of this study was to identify the host immune cells responsible for infections before engraftment. METHODS: A total of 282 patients who underwent allo-SCT were enrolled. Peripheral blood samples were collected before conditioning therapy...
December 2, 2016: Transplant Infectious Disease: An Official Journal of the Transplantation Society
https://www.readbyqxmd.com/read/27907013/development-and-implementation-of-the-ebola-traveler-monitoring-program-and-clinical-outcomes-of-monitored-travelers-during-october-may-2015-minnesota
#6
Aaron DeVries, Pamela Talley, Kristin Sweet, Susan Kline, Patricia Stinchfield, Pritish Tosh, Richard Danila
BACKGROUND: In October 2014, the United States began actively monitoring all persons who had traveled from Guinea, Liberia, and Sierra Leone in the previous 21 days. State public health departments were responsible for monitoring all travelers; Minnesota has the largest Liberian population in the United States. The MDH Ebola Clinical Team (ECT) was established to assess travelers with symptoms of concern for Ebola virus disease (EVD), coordinate access to healthcare at appropriate facilities including Ebola Assessment and Treatment Units (EATU), and provide guidance to clinicians...
2016: PloS One
https://www.readbyqxmd.com/read/27905890/low-and-declining-attack-rates-of-imported-typhoid-fever-in-the-netherlands-1997-2014-in-spite-of-a-restricted-vaccination-policy
#7
F S T Suryapranata, M Prins, G J B Sonder
BACKGROUND: Typhoid fever mainly occurs in (sub) tropical regions where sanitary conditions remain poor. In other regions it occurs mainly among returning travelers or their direct contacts. The aim of this study was to evaluate the current Dutch guidelines for typhoid vaccination. METHOD: Crude annual attack rates (AR) per 100,000 Dutch travelers were calculated during the period 1997 to 2014 by dividing the number of typhoid fever cases by the estimated total number of travelers to a specific country or region...
December 1, 2016: BMC Infectious Diseases
https://www.readbyqxmd.com/read/27902614/associating-pancreaticostomy-and-biliary-irrigation-for-staged-pancreaticoduodenectomy-approach-to-pancreatic-intraductal-papillary-mucinous-neoplasm-with-recurrent-cholangitis-and-severe-jaundice-a-case-report
#8
Chao Dai, Siyuan Lou, Fan Zhou
PATIENT CONCERNS: A 63-year-old man was hospitalized with history of abdominal pain since more than 1 year, and that of fever with chills since 2 weeks. DIAGNOSES: Based on the laboratory investigations and radiologic findings, a preliminary diagnosis of pancreatic intraductal papillary mucinous neoplasm (IPMN) with recurrent cholangitis and severe jaundice was made. INTERVENTIONS: An initial attempt at endoscopic and image-guided drainage proved unsuccessful...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27899787/mcardle-disease-misdiagnosed-as-meningitis
#9
Renata Siciliani Scalco, Sherryl Chatfield, Muhammad Hyder Junejo, Suzanne Booth, Jatin Pattni, Richard Godfrey, Ros Quinlivan
BACKGROUND McArdle disease is a glycogen storage disorder mainly characterized by exercise intolerance. Prolonged muscle contracture is also a feature of this condition and may lead to rhabdomyolysis (RM), which is a serious event characterized by acute skeletal muscle damage.  CASE REPORT A 44-year-old female patient presented with an acute contracture of the posterior neck muscles, causing severe nuchal rigidity. The contracture was induced during a dental extraction as she held her mouth open for a prolonged period, with her neck in a rigid position...
November 30, 2016: American Journal of Case Reports
https://www.readbyqxmd.com/read/27899390/hyper-igd-and-periodic-fever-syndrome-hids-due-to-compound-heterozygosity-for-g336s-and-v377i-in-a-44-year-old-patient-with-a-27-year-history-of-fever
#10
Stefan Schlabe, Carolynne Schwarze-Zander, Peter Lohse, Jürgen Kurt Rockstroh
Hereditary autoinflammatory syndromes are a rare, but notable cause of fever of unknown origin. During the last few years, the knowledge of the genetic background has significantly increased. Here, we report a novel pathogenic mutation in the MVK gene as the cause of fever in a 44-year-old male patient with a history of fever over a period of 27 years.
November 29, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27896238/retroperitoneal-fibrosis-due-to-opium-abuse-a-case-series-and-literature-review
#11
Mohammad Ali Mohammadzadeh Rezaei, Alireza Akhavan Rezayat, Shima Ardalan
Retroperitoneal fibrosis (RPF) is a rare condition with an unclear etiology, presenting with the development of aberrant chronic nonspecific fibroinflammatory tissue in the retroperitoneal space, which can result in entrapment and obstruction of the retroperitoneal structures. RPF is a subtype of chronic periaortitis, and can be divided into two types: primary (or idiopathic) and secondary. RPF is usually idiopathic, but can also be secondary to malignancies, certain drugs, infections, surgery, and trauma. The systemic clinical manifestations are nonspecific and include low-grade fever, fatigue, anorexia, weight loss, and myalgia...
November 2016: Nephro-urology Monthly
https://www.readbyqxmd.com/read/27893896/association-between-influenza-infection-and-vaccination-during-pregnancy-and-risk-of-autism-spectrum-disorder
#12
Ousseny Zerbo, Yinge Qian, Cathleen Yoshida, Bruce H Fireman, Nicola P Klein, Lisa A Croen
Importance: Maternal infections and fever during pregnancy are associated with increased risk for autism spectrum disorders (ASDs). To our knowledge, no study has investigated the association between influenza vaccination during pregnancy and ASD. Objective: To investigate the association between influenza infection and vaccination during pregnancy and ASD risk. Design, Setting, and Participants: This cohort study included 196 929 children born at Kaiser Permanente Northern California from January 1, 2000 to December 31, 2010, at a gestational age of at least 24 weeks...
November 28, 2016: JAMA Pediatrics
https://www.readbyqxmd.com/read/27893416/the-effect-of-fc%C3%AE-riia-and-fc%C3%AE-riib-on-coronary-artery-lesion-formation-and-intravenous-immunoglobulin-treatment-responses-in-children-with-kawasaki-disease
#13
Ling-Sai Chang, Mao-Hung Lo, Sung-Chou Li, Ming-Yu Yang, Kai-Sheng Hsieh, Ho-Chang Kuo
Previous research has found patients with the FcγRIIIB NA1 variant having increased risk of intravenous immunoglobulin (IVIG) resistance in Kawasaki disease (KD). Our previous studies revealed that elevated FcγRIIA expression correlated with the susceptibility of KD patients. We conducted this research to determine whether and how Fcγ receptors affect the susceptibility, IVIG treatment response, and coronary artery lesions (CAL) of KD patients. The activating FcγRIIA and inhibitory FcγRIIB methylation levels of seven patients with KD and four control subjects were examined using HumanMethylation27 BeadChip...
November 21, 2016: Oncotarget
https://www.readbyqxmd.com/read/27891373/retrospective-comparison-of-clinical-characteristics-and-in-hospital-outcomes-among-diabetic-and-non-diabetic-adults-with-acute-pyelonephritis
#14
Shailesh C Trivedi, Sanjeev R Phatak, Renu S Trivedi
INTRODUCTION: Acute Pyelonephritis (APN) is a common infection in community. Diabetes Mellitus (DM) may have different effect on clinical characteristics and outcomes of APN compared to non-diabetic individuals. AIM: To compare clinical characteristics and assess outcomes of APN patients with and without DM. MATERIALS AND METHODS: A retrospective analysis of 122 patients with DM (n=61) and without DM (n=61) was conducted at a single, private, urban set-up from Gujarat, India...
October 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27891372/experience-with-splenic-abscess-from-southern-india
#15
Mallikarjuna Shetty, Swaroopa Deme, Knkj Mohan, Krishna Prasad Adiraju, Nageswar Rao Modugu, Naval Chandra, Amvr Narendra, Sathyanarayana Raju Yadati
INTRODUCTION: Splenic abscess is a rare entity with potentially life threatening complications. Sparse recent published data are available documenting the aetiological profile and management of patients with splenic abscess from India. AIM: To study the clinical profile of splenic abscess. MATERIALS AND METHODS: We retrospectively collected data from case records of admitted patients with splenic abscesses, to Nizam's Institute of Medical Sciences and Hospital which is a multispecialty, tertiary care referral hospital over a period of 15 months (from March 2014 to May 2015) and parameters studied were age, sex, symptoms, signs, risk factors, investigations like Ultrasound, CT scan, blood & microbiological culture, treatment and outcome...
October 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27886801/approach-to-the-patients-with-inadequate-response-to-colchicine-in-familial-mediterranean-fever
#16
REVIEW
Ahmet Gül
Familial Mediterranean fever (FMF) is the most common form of monogenic autoinflammatory conditions, and response to colchicine has been considered as one of its distinctive features among other hereditary periodic fever disorders. Prophylactic colchicine has been shown to be effective in the prevention of inflammatory attacks and development of amyloidosis. However, the highest tolerable doses of colchicine may not be adequate enough to manage these goals in approximately 5% of FMF patients. Inadequate response to colchicine in fully compliant FMF patients may be associated with genetic and/or environmental factors affecting disease severity and colchicine bioavailability...
April 2016: Best Practice & Research. Clinical Rheumatology
https://www.readbyqxmd.com/read/27884251/complicated-pericarditis-understanding-risk-factors-and-pathophysiology-to%C3%A2-inform%C3%A2-imaging-and-treatment
#17
REVIEW
Paul C Cremer, Arnav Kumar, Apostolos Kontzias, Carmela D Tan, E Rene Rodriguez, Massimo Imazio, Allan L Klein
Most patients with acute pericarditis have a benign course and a good prognosis. However, a minority of patients develop complicated pericarditis, and the care of these patients is the focus of this review. Specifically, we address risk factors, multimodality imaging, pathophysiology, and novel treatments. The authors conclude that: 1) early high-dose corticosteroids, a lack of colchicine, and an elevated high-sensitivity C-reactive protein are associated with the development of complicated pericarditis; 2) in select cases, cardiovascular magnetic resonance imaging may aid in the assessment of pericardial inflammation and constriction; 3) given phenotypic similarities between recurrent idiopathic pericarditis and periodic fever syndromes, disorders of the inflammasome may contribute to relapsing attacks; and 4) therapies that target the inflammasome may lead to more durable remission and resolution...
November 29, 2016: Journal of the American College of Cardiology
https://www.readbyqxmd.com/read/27882301/prolonged-shedding-of-chikungunya-virus-in-semen-and-urine-a-new-perspective-for-diagnosis-and-implications-for-transmission
#18
Antonio Carlos Bandeira, Gubio Soares Campos, Veronica França Diniz Rocha, Bruno Solano de Freitas Souza, Milena Botelho Pereira Soares, Alexsandro Araujo Oliveira, Yara Carvalho de Abreu, Gabriela Sant Ana Menezes, Silvia Ines Sardi
We report the presence of Chikungunya (CHIKV) RNA in the blood, urine and semen during the acute phase of the disease in an adult with a dual infection with Dengue virus type 3. The patient, a 25 yr-old man from Salvador, Brazil, reported a 6-day duration of high fever, arthralgia, myalgia, headache and photophobia.Blood and semen specimens were positive for CHIKV in the first collected samples; semen and urine specimens were positive for CHIKV after 30 days of symptoms onset. DENV-3 RNA was positive in blood specimen when first collected 6 days after the initiation of symptoms...
2016: IDCases
https://www.readbyqxmd.com/read/27880040/acetaminophen-overdoses-active-component-u-s-armed-forces-2006-2015
#19
Leslie L Clark, Stephen B Taubman
Acetaminophen, a drug commonly used to relieve pain and fever, is generally safe and effective when used as directed. However, acetaminophen overdose can cause serious adverse events, including liver damage and death. From 2006 through 2015, a total of 2,588 cases of acetaminophen overdose were identified in active component military members. Rates of acetaminophen overdose declined during this 10-year surveillance period, from 2.2 cases per 10,000 person-years (p-yrs) in 2006 to 1.2 cases per 10,000 p-yrs in 2015...
November 2016: MSMR
https://www.readbyqxmd.com/read/27876028/clinical-assessment-of-children-with-renal-abscesses-presenting-to-the-pediatric-emergency-department
#20
Chun-Yu Chen, Huang-Tsung Kuo, Yu-Jun Chang, Kang-Hsi Wu, Wen-Chieh Yang, Han-Ping Wu
BACKGROUND: Renal abscesses are relatively uncommon in children but may result in prolonged hospital stays and life-threatening events. We undertook this study to analyze the clinical spectrum of renal abscesses in children admitted to the pediatric emergency department (ED) and to find helpful clinical characteristics that can potentially aid emergency physicians for detecting renal abscesses in children earlier. METHODS: From 2004 to 2011, we retrospectively analyzed 17 patients, aged 18 years or younger, with a definite diagnosis of renal abscess admitted to the ED...
November 22, 2016: BMC Pediatrics
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