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https://www.readbyqxmd.com/read/29452319/-white-cord-syndrome-of-acute-hemiparesis-after-posterior-cervical-decompression-and-fusion-for-chronic-cervical-stenosis
#1
Prince Antwi, Ryan Grant, Gregory Kuzmik, Khalid Abbed
BACKGROUND: "White cord syndrome" is a very rare condition thought to be the result of acute reperfusion of chronically ischemic areas of the spinal cord. Its hallmark is the presence of intramedullary hyperintense signal on T2-weighted MRI sequences in a patient with unexplained neurologic deficits following a spinal cord decompression. The syndrome is rare and has been reported previously in two patients following anterior cervical decompression and fusion. CASE DESCRIPTION: Here, we report an additional case of this complication in a 68-year-old man who developed acute left-sided hemiparesis after posterior cervical decompression and fusion for cervical spondylotic myelopathy...
February 13, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29451093/adjustment-for-time-invariant-and-time-varying-confounders-in-unexplained-residuals-models-for-longitudinal-data-within-a-causal-framework-and-associated-challenges
#2
K F Arnold, Gth Ellison, S C Gadd, J Textor, Pwg Tennant, A Heppenstall, M S Gilthorpe
'Unexplained residuals' models have been used within lifecourse epidemiology to model an exposure measured longitudinally at several time points in relation to a distal outcome. It has been claimed that these models have several advantages, including: the ability to estimate multiple total causal effects in a single model, and additional insight into the effect on the outcome of greater-than-expected increases in the exposure compared to traditional regression methods. We evaluate these properties and prove mathematically how adjustment for confounding variables must be made within this modelling framework...
January 1, 2018: Statistical Methods in Medical Research
https://www.readbyqxmd.com/read/29450939/unexplained-infertility-patients-present-the-mostly-impaired-levels-of-progesterone-receptors-prospective-observational-study
#3
Stamatios Petousis, Yannis Prapas, Chrysoula Margioula-Siarkou, Konstantinos Ravanos, Stefanos Milias, George Mavromatidis, Ioannis Kalogiannidis, Costas Haitoglou, Apostolos Athanasiadis, Nikolaos Prapas, David Rousso
PROBLEM: Τo assess the endometrial expression of progesterone receptors in various subgroups of infertile women during implantation window. ΜETHODS: A prospective observational study was performed during March 2013-February 2017. Infertile women were categorized to those with tubal factor, ovarian failure, endometriosis or unexplained infertility. Endometrial biopsy was obtained on 7th-8th postovulatory day. Total progesterone receptors' PR(A + B) and type-B receptors' (PR-B) expression were compared between all categories of infertile and fruitful controls...
February 16, 2018: American Journal of Reproductive Immunology: AJRI
https://www.readbyqxmd.com/read/29449431/wilson-disease-more-than-meets-the-eye
#4
REVIEW
Claire Kelly, Marinos Pericleous
Wilson disease is a rare but important disorder of copper metabolism, with a failure to excrete copper appropriately into bile. It is a multisystem condition with presentations across all branches of medicine. Diagnosis can be difficult and requires a high index of suspicion. It should be considered in unexplained liver disease particularly where neuropsychiatric features are also present. Treatments are available for all stages of disease. A particularly important presentation not to overlook is acute liver failure which carries a high mortality risk and may require urgent liver transplantation...
February 15, 2018: Postgraduate Medical Journal
https://www.readbyqxmd.com/read/29444764/clinical-radiological-pathological-correlation-in-an-unusual-case-of-refractory-epilepsy-a-two-year-journey-of-whodunit
#5
Deepak Menon, Ramshekhar N Menon, Chandrasekharan Kesavadas, Anita Mahadevan, Ashalatha Radhakrishnan, Sudheeran Kannoth, Pradeep P Nair, Mathew Abraham, Bejoy Thomas, Sanjeev V Thomas
New-onset refractory focal epilepsy poses significant challenges to the clinician in the absence of specific diagnostic biomarkers. Differential diagnoses based on imaging may be expanded by a veritable spectrum of peri-ictal imaging findings that may mask the underlying substrate. We report a 13-year-old girl who presented with refractory focal seizures of left parieto-occipital origin with cytotoxic gyral oedema noted over the same region on imaging. Despite an initial negative autoantibody profile, the patient was treated with immunosuppression, followed by serial relapses requiring immune-modulation...
February 14, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/29443773/anti-n-methyl-d-aspartate-receptor-encephalitis-associated-with-acute-toxoplasma-gondii-infection-a-case-report
#6
Xiaotang Cai, Hui Zhou, Yongmei Xie, Dan Yu, Zhiling Wang, Haitao Ren
RATIONALE: Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis has been recognized as the most frequent autoimmune encephalitis in children. Several infectious agents have been implicated in anti-NMDA encephalitis. PATIENT CONCERNS: A previously healthy immunocompetent 9-year-old girl first presented with seizures, headaches and vomiting. Cerebrospinal fluid and brain magnetic resonance imaging were normal. After one week onset, the patient gradually developed unexplained personality and behavior changes, accompanied by fever and seizures again...
February 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29440805/hypnotic-intervention-for-unexplained-dizziness-in-patients-with-advanced-cancer-a-preliminary-retrospective-observation-study
#7
Hideaki Hasuo, Kenji Kanbara, Mikihiko Fukunaga, Naoko Yunoki
Context: Patients with advanced cancer rarely complain of unexplained dizziness after excluding identifiable causes. Some patients become anxious because they attribute the dizziness to the progression of their cancer. We hypothesize that unexplained dizziness is associated with neck muscle hypertonicity, a noncancer-related secondary effect. However, most cases are associated with neck muscle hypertonicity, a noncancer-related secondary effect. Aims: We evaluated the usefulness of hypnotic intervention that made patients aware of the relation between dizziness and neck muscle hypertonicity through the experience of muscle relaxation and recognition of muscle tension...
January 2018: Indian Journal of Palliative Care
https://www.readbyqxmd.com/read/29440208/meta-analysis-of-self-reported-health-symptoms-in-1990-1991-gulf-war-and-gulf-war-era-veterans
#8
Alexis L Maule, Patricia A Janulewicz, Kimberly A Sullivan, Maxine H Krengel, Megan K Yee, Michael McClean, Roberta F White
OBJECTIVES: Across diverse groups of Gulf War (GW) veterans, reports of musculoskeletal pain, cognitive dysfunction, unexplained fatigue, chronic diarrhoea, rashes and respiratory problems are common. GW illness is a condition resulting from GW service in veterans who report a combination of these symptoms. This study integrated the GW literature using meta-analytical methods to characterise the most frequently reported symptoms occurring among veterans who deployed to the 1990-1991 GW and to better understand the magnitude of ill health among GW-deployed veterans compared with non-deployed GW-era veterans...
February 13, 2018: BMJ Open
https://www.readbyqxmd.com/read/29439653/unexplained-chronic-liver-disease-in-ethiopia-a-cross-sectional-study
#9
Stian Magnus Staurung Orlien, Nejib Yusuf Ismael, Tekabe Abdosh Ahmed, Nega Berhe, Trine Lauritzen, Borghild Roald, Robert David Goldin, Kathrine Stene-Johansen, Anne Margarita Dyrhol-Riise, Svein Gunnar Gundersen, Marsha Yvonne Morgan, Asgeir Johannessen
BACKGROUND: Hepatitis B virus (HBV) infection is assumed to be the major cause of chronic liver disease (CLD) in sub-Saharan Africa. The contribution of other aetiological causes of CLD is less well documented and hence opportunities to modulate other potential risk factors are being lost. The aims of this study were to explore the aetiological spectrum of CLD in eastern Ethiopia and to identify plausible underlying risk factors for its development. METHODS: A cross-sectional study was undertaken between April 2015 and April 2016 in two public hospitals in Harar, eastern Ethiopia...
February 13, 2018: BMC Gastroenterology
https://www.readbyqxmd.com/read/29438854/thrombosis-of-the-spleno-mesentiric-portal-axis-following-laparoscopic-sleeve-gastrectomy-a-rare-case-report
#10
Saleh Alshreadah, Rasees Alotaibi, Abdulaziz Aldabaeab, Ibrahim Alhafid
INTRODUCTION: Mesenteric, splenic and portal veins thrombosis (MSPVT) is uncommon complication after sleeve gastrectomy. CASE REPORT: A 38-year-old female underwent laparoscopic sleeve gastrectomy (LSG) for the treatment of morbid obesity, presented 4 weeks later with epigastric pain. Computed tomography (CT) scan revealed superior mesenteric, splenic and the portal veins thrombosis. CONCLUSION: MSPVT is a rare presentation after laparoscopic sleeve gastrectomy, which requires early diagnosis and management and it should be included in the differential diagnosis for unexplained abdominal symptoms after laparoscopic sleeve gastrectomy...
February 9, 2018: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29436572/recurrent-venous-thrombosis-in-a-patient-with-ebstein-s-anomaly
#11
Deema A Gashgarey, Hazza A Alzahrani, Sultan S Alfadl, Sultan A Alsobayeg
Herein, we report a case of a 27-year-old man with Ebstein's anomaly and a history of unexplained recurrent venous thrombosis despite adequate anticoagulation. After surgical correction of the Ebstein's anomaly, the venous thromboembolic events did not recur. This case demonstrates the possible etiopathogenesis of Ebstein's anomaly in causing recurrent venous thromboembolism, which is likely caused through impedance of venous blood flow.Our objective in presenting this particular case is to highlight the possible association between Ebstein's anomaly and venous thrombosis...
February 2018: Saudi Medical Journal
https://www.readbyqxmd.com/read/29434232/a-preferential-attachment-paradox-how-preferential-attachment-combines-with-growth-to-produce-networks-with-log-normal-in-degree-distributions
#12
Paul Sheridan, Taku Onodera
Every network scientist knows that preferential attachment combines with growth to produce networks with power-law in-degree distributions. How, then, is it possible for the network of American Physical Society journal collection citations to enjoy a log-normal citation distribution when it was found to have grown in accordance with preferential attachment? This anomalous result, which we exalt as the preferential attachment paradox, has remained unexplained since the physicist Sidney Redner first made light of it over a decade ago...
February 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29433947/antiglutamic-acid-decarboxylase-65-gad65-antibody-associated-epilepsy
#13
REVIEW
Ahmad Daif, Rimas V Lukas, Naoum P Issa, Adil Javed, Stephen VanHaerents, Anthony T Reder, James X Tao, Peter Warnke, Sandra Rose, Vernon L Towle, Shasha Wu
Glutamic acid decarboxylase (GAD) antibody-associated encephalitis causes both acute seizures and chronic epilepsy with predominantly temporal lobe onset. This condition is challenging in diagnosis and management, and the incidence of GAD antibody (Ab)-related epilepsy could be much higher than commonly believed. Imaging and CSF evidence of inflammation along with typical clinical presentations, such as adult onset temporal lobe epilepsy (TLE) with unexplained etiology, should prompt testing for the diagnostic antibodies...
February 9, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29433402/the-effect-of-low-dose-ovarian-stimulation-with-hmg-plus-progesterone-on-pregnancy-outcome-in-women-with-history-of-recurrent-pregnancy-loss-and-secondary-infertility-a-retrospective-cohort-study
#14
Maria Elisabetta Coccia, Francesca Rizzello, Mauro Cozzolino, Valentina Turillazzi, Tommaso Capezzuoli
We assessed the outcome of pregnancy in women with a history of recurrent pregnancy loss (RPL) following treatment with low-dose human menopausal gonadotropin (HMG)+progesterone or progesterone alone. This single-center retrospective cohort study included data from women diagnosed with RPL and treated between February 2005 and December 2012 with one cycle of HMG + progesterone or progesterone alone. Primary endpoint was the rate of ongoing pregnancies and losses by treatment, age (<38 vs. ≥38 years) and in the subgroup with unexplained RPL...
February 12, 2018: Gynecological Endocrinology
https://www.readbyqxmd.com/read/29433144/smith-lemli-opitz-mutations-in-unexplained-stillbirths
#15
Karen J Gibbins, Uma M Reddy, George R Saade, Robert L Goldenberg, Donald J Dudley, Corette B Parker, Vanessa Thorsten, Halit Pinar, Radek Bukowski, Carol J Hogue, Robert M Silver
OBJECTIVE:  Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive syndrome caused by a defect in cholesterol biosynthesis with mutations in 7-dehydrocholesterol reductase (DHCR7). A total of 3% of Caucasians carry DHCR7 mutations, theoretically resulting in a homozygote frequency of 1/4000. However, SLOS occurs in only 1/20,000 to 60,000 live births. Our objective was to assess DHCR7 mutations in unexplained stillbirths. STUDY DESIGN:  Prospective, multicenter, population-based case-control study of all stillbirths and a representative sample of live births enrolled in five geographic areas...
February 12, 2018: American Journal of Perinatology
https://www.readbyqxmd.com/read/29431636/germline-mutations-in-the-mitochondrial-2-oxoglutarate-malate-carrier-slc25a11-gene-confer-a-predisposition-to-metastatic-paragangliomas
#16
Alexandre Buffet, Aurelie Morin, Luis-Jaime Castro-Vega, Florence Habarou, Charlotte Lussey-Lepoutre, Eric Letouzé, Hervé Lefebvre, Isabelle Guilhem, Haissaguerre Magalie, Isabelle Raingeard, Mathilde Padilla-Girola, Thi Tran, Lucien Tchara, Jerome Bertherat, Laurence Amar, Chris Ottolenghi, Nelly Burnichon, Anne-Paule Gimenez-Roqueplo, Judith Favier
Comprehensive genetic analyses have identified germline SDHB and FH gene mutations as predominant causes of metastatic paraganglioma and pheochromocytoma. However, some suspicious cases remain unexplained. In this study, we performed whole-exome sequencing of a paraganglioma exhibiting a SDHx-like molecular profile in the absence of SDHx or FH mutations and identified a germline mutation in the SLC25A11 gene, which encodes the mitochondrial 2-oxoglutarate/malate carrier. Germline SLC25A11 mutations were identified in six other patients, five of whom had metastatic disease...
February 5, 2018: Cancer Research
https://www.readbyqxmd.com/read/29431025/highlighting-the-clinical-need-for-diagnosing-mycoplasma-genitalium-infection
#17
Catherine A Ison, Helen Fifer, Simon Gwynn, Paddy Horner, Peter Muir, Jane Nicholls, Keith Radcliffe, Jonathan Ross, David Taylor-Robinson, John White
Despite Mycoplasma genitalium (MG) being increasingly recognised as a genital pathogen in men and women, awareness and utility of commercially available MG-testing has been low. The opinion of UK sexual health clinicians and allied professionals was sought on how MG-testing should be used. Thirty-two consensus statements were developed by an expert group and circulated to clinicians and laboratory staff, who were asked to evaluate their level of agreement with each statement; 75% agreement was set as the threshold for defining consensus for each statement...
January 1, 2018: International Journal of STD & AIDS
https://www.readbyqxmd.com/read/29429466/-recurrent-convulsion-and-pulmonary-infection-complicated-by-psychomotor-retardation-in-an-infant
#18
Juan Xiong, Jing Peng, Hao-Lin Duan, Chen Chen, Xiao-Le Wang, Shi-Meng Chen, Fei Yin
A 4-month-old girl developed convulsion in the neonatal period, which was focal motor seizures in the initial stage and later became spasm and tonic spasm. And the girl also had psychomotor retardation and recurrent pulmonary infection. Electroencephalography showed hypsarrhythmia, normal results were obtained from cranial magnetic resonance imaging, cerebrospinal fluid examination, and urine organic acid analysis, as well as the spectral analyses of blood ammonia, blood lactic acid, blood amino acids, and acylcarnitines...
February 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29429461/-gene-mutations-in-unexplained-infantile-epileptic-encephalopathy-an-analysis-of-47-cases
#19
Chun-Miao Wei, Gui-Zhi Xia, Rong-Na Ren
OBJECTIVE: To investigate the characteristics of gene mutations in unexplained infantile epileptic encephalopathy (EE). METHODS: A total of 47 infants with unexplained infantile EE were enrolled, and next-generation sequencing was used to analyze gene mutations in these infants and their parents. RESULTS: Of all 47 infants, 23 were found to have gene mutations, among whom 13 had de novo mutations and 10 had heterozygous mutations inherited from their father or mother...
February 2018: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/29427106/the-neuropathology-of-spinocerebellar-ataxia-type-3-machado-joseph-disease
#20
Arnulf H Koeppen
Spinocerebellar ataxia type 3 (SCA-3)/Machado-Joseph disease (MJD), the most common autosomal dominant ataxia, affects many regions of the brain and spinal cord. Similar to SCA-1, SCA-2, SCA-6, SCA-7, and SCA-17, the mutation consists of a pathogenic translated cytosine-adenine-guanine (CAG) trinucleotide repeat expansion. Almost invariably, the substantia nigra and the dentate nucleus of the cerebellum bear the brunt of the disease, and these lesions account for the Parkinsonian and ataxic phenotypes. Lesions of motor nuclei in the brain stem cause the complex disturbance of ocular motility and weakness of the tongue...
2018: Advances in Experimental Medicine and Biology
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