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https://www.readbyqxmd.com/read/27910804/sudden-cardiac-death-a-nationwide-cohort-study-among-the-young
#1
Bjarke Risgaard
Sudden cardiac death (SCD) is a tragic event affecting millions of individuals worldwide. Although several studies have investigated the epidemiology of SCD, these studies may have been affected by reporting and referral biases, which are reflected in the very different incidence rates and causes of deaths that have previously been reported. Among SCD victims aged < 36 years, inherited cardiac diseases are well known to play an important role. However, the extent to which inherited cardiac diseases also play a role in SCD victims aged < 50 years has not been completely described...
December 2016: Danish Medical Journal
https://www.readbyqxmd.com/read/27905341/heidenhain-variant-of-creutzfeldt-jakob-disease-in-a-patient-who-had-bovine-bioprosthetic-valve-implantation
#2
Jehard Hashoul, Waleed Saliba, Irina Bloch, Haneen Jabaly-Habib
Creutzfeldt-Jakob disease (CJD) is a rare neurodegenerative disorder characterized by rapidly progressing dementia, general neurologic deterioration, and death. When the leading symptoms are visual disturbances, it is termed as the Heidenhain variant of CJD (HvCJD). CJD was reported following prion-contaminated pericardium transplants but never after bovine bioprosthetic cardiac valve. In this case report, we describe HvCJD in a patient who had a bovine bioprosthetic cardiac valve implant. An 82-year-old-woman was referred to neuro-ophthalmology clinic for unexplained visual loss that started 1 month previously...
October 2016: Indian Journal of Ophthalmology
https://www.readbyqxmd.com/read/27905001/guidelines-for-diagnosis-and-management-of-the-cobalamin-related-remethylation-disorders-cblc-cbld-cble-cblf-cblg-cblj-and-mthfr-deficiency
#3
Martina Huemer, Daria Diodato, Bernd Schwahn, Manuel Schiff, Anabela Bandeira, Jean-Francois Benoist, Alberto Burlina, Roberto Cerone, Maria L Couce, Angeles Garcia-Cazorla, Giancarlo la Marca, Elisabetta Pasquini, Laura Vilarinho, James D Weisfeld-Adams, Viktor Kožich, Henk Blom, Matthias R Baumgartner, Carlo Dionisi-Vici
BACKGROUND: Remethylation defects are rare inherited disorders in which impaired remethylation of homocysteine to methionine leads to accumulation of homocysteine and perturbation of numerous methylation reactions. OBJECTIVE: To summarise clinical and biochemical characteristics of these severe disorders and to provide guidelines on diagnosis and management. DATA SOURCES: Review, evaluation and discussion of the medical literature (Medline, Cochrane databases) by a panel of experts on these rare diseases following the GRADE approach...
November 30, 2016: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/27899248/unexplained-increases-in-serum-vancomycin-concentration-in-a-morbidly-obese-patient
#4
REVIEW
Sean P Kane, Scott D Hanes
INTRODUCTION: To report a case of increases in vancomycin concentrations without additional vancomycin doses being given. CASE STUDY: A 64 year-old morbidly obese female received three total doses of vancomycin for surgical prophylaxis and for ventilator-associated pneumonia. Subsequent vancomycin concentrations from the patient's central venous catheter (CVC) demonstrated increasing drug levels from 27.1 to 45.9mcg/mL despite no additional vancomycin being given and proper line flushing prior to sample collection...
November 26, 2016: Intensive & Critical Care Nursing: the Official Journal of the British Association of Critical Care Nurses
https://www.readbyqxmd.com/read/27898216/characterization-of-prostacyclin-associated-leg-pain-in-patients-with-pulmonary-arterial-hypertension
#5
Gabriel L Pagani-Estévez, Keith M Swetz, Michael D McGoon, Robert P Frantz, Susan K Tointon, Ann M Karnyski, Louise A Durst, James C Watson
RATIONALE: Prostacyclin-associated leg pain is a potentially debilitating adverse effect of prostacyclin therapy for patients with pulmonary arterial hypertension (PAH). However, to our knowledge, this entity has not been systematically studied. OBJECTIVE: To characterize the clinical features and metabolic risk factors for prostacyclinassociated leg pain. METHODS: At one academic medical center we assembled and analyzed a case series of patients with PAH and prostacyclin-associated leg pain...
November 29, 2016: Annals of the American Thoracic Society
https://www.readbyqxmd.com/read/27898081/understanding-unspecific-complaints-through-genetics
#6
Eli Sprecher
Unspecific and unexplained medical complaints can be frustrating to both patients and clinicians. A cause for these complex symptoms and signs may now have been identified.
November 29, 2016: Nature Genetics
https://www.readbyqxmd.com/read/27896787/extracorporeal-membrane-oxygenation-for-pheochromocytoma-induced-cardiogenic-shock
#7
Guillaume Hekimian, Fatima Kharcha, Nicolas Bréchot, Matthieu Schmidt, Cécile Ghander, Guillaume Lebreton, Xavier Girerd, Christophe Tresallet, Jean-Louis Trouillet, Pascal Leprince, Jean Chastre, Alain Combes, Charles-Edouard Luyt
BACKGROUND: Pheochromocytoma, a rare catecholamine-producing tumor, might provoke stress-induced Takotsubo-like cardiomyopathy and severe cardiogenic shock. Because venoarterial-extracorporeal membrane oxygenation (VA-ECMO) rescue of pheochromocytoma-induced refractory cardiogenic shock has rarely been reported, we reviewed our ICU patients' presentations and outcomes. METHODS: All pheochromocytoma-induced refractory cardiogenic shock cases managed with VA-ECMO (January 2007-March 2015) were prospectively included and reviewed...
December 2016: Annals of Intensive Care
https://www.readbyqxmd.com/read/27894609/what-is-the-problem-with-medically-unexplained-symptoms-for-gps-a-meta-synthesis-of-qualitative-studies
#8
REVIEW
May-Lill Johansen, Mette Bech Risor
OBJECTIVE: To gain a deeper understanding of challenges faced by GPs when managing patients with MUS. METHODS: We used meta-ethnography to synthesize qualitative studies on GPs' perception and management of MUS. RESULTS: The problem with MUS for GPs is the epistemological incongruence between dominant disease models and the reality of meeting patients suffering from persistent illness. GPs have used flexible approaches to manage the situation, yet patients and doctors have had parallel negative experiences of being stuck, untrustworthy and helpless...
November 21, 2016: Patient Education and Counseling
https://www.readbyqxmd.com/read/27894463/what-should-we-say-to-patients-with-unexplained-neurological-symptoms-how-explanation-affects-offence
#9
Juen Mei Ding, Richard A A Kanaan
OBJECTIVES: Unexplained neurological symptoms (UNS) are common presentations in neurology but there is no consensus as to what they should be called. This is important, as patient acceptance is a predictor of outcome and there is evidence that patients are unhappy with the terms used. Patient understanding of these terms may be limited, however, and, once explained, the terms may seem more or less offensive. We sought to elicit patients' views of 7 frequently used terms for UNS, and whether these changed once definitions were provided...
December 2016: Journal of Psychosomatic Research
https://www.readbyqxmd.com/read/27894448/the-intersection-of-medical-child-abuse-and-medical-complexity
#10
REVIEW
Hillary W Petska, John B Gordon, Debra Jablonski, Lynn K Sheets
Children with medical complexity and victims of medical child abuse may have similar clinical presentations. Atypical or unexplained signs and symptoms due to rare diseases may lead providers to suspect medical child abuse when not present. Conversely, medical child abuse may be the cause of or coexist with medical complexity. Careful consideration of whether or not medical child abuse is present is essential when assessing a child with medical complexity since either diagnosis has significant consequences for children and families...
February 2017: Pediatric Clinics of North America
https://www.readbyqxmd.com/read/27890544/persistent-hydrocephalus-due-to-postural-activation-of-a-ventricular-shunt-anti-gravity-device
#11
Claudia L Craven, Ahmed K Toma, Laurence D Watkins
The ever present need to balance over drainage with under drainage in hydrocephalus has required innovations including adjustable valves with antigravity devices. These are activated in the vertical position to prevent siphoning. We describe a group of bedridden patients who presented with unexplained under drainage caused by activation of antigravity shunt components produced by peculiar head/body position. Retrospective single centre case series of hydrocephalus patients, treated with ventriculo-peritoneal (VP) shunt insertion between April 2014 - February 2016...
November 24, 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/27888403/the-predictor-of-mortality-outcome-in-adult-patients-with-ebola-virus-disease-during-the-2014-2015-outbreak-in-guinea
#12
M S Cherif, N Koonrungsesomboon, M P Diallo, E Le Gall, D Kassé, F Cherif, A Koné, M Diakité, F Camara, N Magassouba
The purpose of this study was to examine the association of any demographic and clinical factors with mortality outcome among adult patients with Ebola virus disease (EVD) in Guinea. This retrospective observational study analyzed medical records of laboratory confirmed EVD adult patients during the 2014-2015 EVD outbreak in Guinea. The associations between any demographic or clinical variables and mortality outcome of EVD were assessed using univariate and multivariate logistic regression analyses. Of 2,310 EVD adult patients included for analysis, the overall case fatality rate was 68...
November 25, 2016: European Journal of Clinical Microbiology & Infectious Diseases
https://www.readbyqxmd.com/read/27886628/eeg-utilization-in-canadian-intensive-care-units-a-multicentre-prospective-observational-study
#13
Andrea Park, Martin Chapman, Victoria A McCredie, Derek Debicki, Teneille Gofton, Loretta Norton, J Gordon Boyd
PURPOSE: We have previously shown that electroencephalography (EEG) may be an underutilized monitoring modality in a single general medical-surgical ICU, that does not have a specific neurocritical care consultation service or neurocritical care unit. The present study was designed to describe the pattern of EEG utilization across 3 academic ICUs in Ontario, Canada that use different models of neurocritical care. METHOD: In this prospective multicentre observational study, ICU patients were screened weekly for 6 non-consecutive weeks to determine if they met the ESICM's recommendations or suggestions for EEG monitoring...
November 13, 2016: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/27886517/organic-vs-functional-neurological-disorders-the-role-of-childhood-psychological-trauma
#14
Thanos Karatzias, Ruth Howard, Kevin Power, Florentina Socherel, Craig Heath, Alison Livingstone
Although the relationship between psychological trauma and medically unexplained symptoms (MUS) is well established, this relationship is less well understood in people with medically unexplained neurological symptoms. In the present study, we set out to compare people with functional neurological disorders, and organic neurological disorders, in terms of childhood and adulthood traumatic events, traumatic stress, emotional dysregulation and symptoms of depression and anxiety. We have hypothesised that those with functional neurological disorders would be more likely to report childhood and adulthood traumatic life events, traumatic symptomatology, emotional dysregulation and symptoms of anxiety and depression, compared to those with organic neurological disorders...
November 22, 2016: Child Abuse & Neglect
https://www.readbyqxmd.com/read/27873481/a-case-of-pulmonary-cryptococcosis-with-large-pericardial-effusion-diagnosed-using-cervical-lymph-node-biopsy
#15
Xuchun Liu, Wei Jia, Shubin Huang, Gengyun Sun
Pulmonary cryptococcosis (PC) is a relatively rare infectious disease. It mainly involves the lungs; however, in some patients, the infection could spread to other parts of the body. PC mostly occurs in patients with immune deficiencies. However, PC infections have been reported in non-immunocompromised patients. The diagnosis of PC is challenging in patients without immune deficiencies. Here, the case of a 27-year-old immunocompetent woman who was diagnosed with PC was report. She had unexplained fever and a history of close contact with poultry feathers...
November 7, 2016: Clinical Respiratory Journal
https://www.readbyqxmd.com/read/27864361/causes-of-male-infertility-a-9-year-prospective-monocentre-study-on-1737-patients-with-reduced-total-sperm-counts
#16
M Punab, O Poolamets, P Paju, V Vihljajev, K Pomm, R Ladva, P Korrovits, M Laan
STUDY QUESTION: What are the primary causes of severe male factor infertility? SUMMARY ANSWER: Although 40% of all patients showed primary causes of infertility, which could be subdivided into three groups based on the severity of their effect, ~75% of oligozoospermia cases remained idiopathic. WHAT IS KNOWN ALREADY: There are few large-scale epidemiological studies analyzing the causes of male factor infertility. STUDY DESIGN, SIZE, DURATION: A prospective clinical-epidemiological study was conducted at the Andrology Centre, Tartu University Hospital between 2005 and 2013, recruiting male partners of couples failing to conceive a child for over ≥12 months...
November 17, 2016: Human Reproduction
https://www.readbyqxmd.com/read/27832499/cancer-screening-behaviors-and-risk-perceptions-among-family-members-of-colorectal-cancer-patients-with-unexplained-mismatch-repair-deficiency
#17
Lior H Katz, Shailesh Advani, Allison M Burton-Chase, Bryan Fellman, Katrina M Polivka, Ying Yuan, Patrick M Lynch, Susan K Peterson
Communication gaps in families with unexplained mismatch repair (MMR) deficiency (UMMRD) could negatively impact the screening behaviors of relatives of individual with UMMRD. We evaluated cancer risk perception, screening behaviors, and family communication among relatives of colorectal cancer (CRC) patients with UMMRD. Fifty-one family members of 17 probands with UMMRD completed a questionnaire about cancer risk perception, adherence to Lynch syndrome (LS) screening recommendations, and communication with relatives...
November 10, 2016: Familial Cancer
https://www.readbyqxmd.com/read/27830640/anxiety-depression-suicidal-ideation-and-stressful-life-events-in-non-cardiac-adolescent-chest-pain-a-comparative-study-about-the-hidden-part-of-the-iceberg
#18
Kayi Eliacik, Ali Kanik, Nurullah Bolat, Hilal Mertek, Baris Guven, Ulas Karadas, Buket Dogrusoz, Ali Rahmi Bakiler
Chest pain in adolescents is rarely associated with cardiac disease. Adolescents with medically unexplained chest pain usually have high levels of anxiety and depression. Psychological stress may trigger non-cardiac chest pain. This study evaluated risk factors that particularly characterise adolescence, such as major stressful events, in a clinical population. The present study was conducted on 100 adolescents with non-cardiac chest pain and 76 control subjects. Stressful life events were assessed by interviewing patients using a 36-item checklist, along with the Children's Depression Inventory and Spielberger's State-Trait Anxiety Inventory for children, in both groups...
November 10, 2016: Cardiology in the Young
https://www.readbyqxmd.com/read/27825568/osteoarticular-manifestations-of-celiac-disease-and-non-celiac-gluten-hypersensitivity
#19
Stéphanie Dos Santos, Frédéric Lioté
Celiac disease is a chronic inflammatory autoimmune enteropathy based disorder that is triggered by the ingestion of gluten in genetically susceptible individuals. The global prevalence of 1% to 2% represents only the tip of the iceberg. The diagnosis is confirmed by positive specific antibody, anti-transglutaminase or anti-endomysium, specific lesions of the small intestine and a response to strict gluten-free diet. The diagnosis is difficult and often delayed because the clinical variability is very large, ranging from digestive clinical presentation "classic" to "atypical" symptoms, often extra-intestinal, that are sometimes attributed to a concomitant disease or a complication...
November 4, 2016: Joint, Bone, Spine: Revue du Rhumatisme
https://www.readbyqxmd.com/read/27821895/health-care-utilization-of-mexican-patients-with-medically-unexplained-physical-symptoms
#20
Azucena Maribel Rodriguez González, José Manuel Ramírez Aranda, Homero de Los Santos Reséndiz, María Yolanda Lara Duarte, Santiago Oscar Pazaran Zanella, Jafet Felipe Méndez López, Issa Gil Alfaro, Félix Gilberto Islas Ruz, Gloria Navarrete Floriano, Edith Guillen Salomón, Obdulia Texon Fernández, Silvia Cruz Duarte, Juan Carlos Romo Salazar, Claudia Elsa Pérez Ruiz, Sara de Jesús López Salas, Lizbeth Benítez Amaya, Javier Nahum Zapata Gallardo
OBJECTIVE: To determine the prevalence of medically unexplained physical symptoms and the characteristics and use of health services in a group of patients with medically unexplained physical symptoms and a group of patients with other illnesses. METHODS: This was a cross-sectional, retrospective and multicenter study. We included 1,043 patients over 18 years of age from 30 primary care units of a government health institution, in 11 states of Mexico, attended by 39 family physicians...
September 30, 2016: Colombia Médica: CM
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