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https://www.readbyqxmd.com/read/28635494/urea-cycle-disorder-misdiagnosed-as-multiple-sclerosis-a-case-report-and-review-of-the-literature
#1
Hussein Algahtani, Seham Alameer, Yousef Marzouk, Bader Shirah
Urea cycle disorders are a group of inborn errors of metabolism caused by dysfunction of any of the six enzymes or two transport proteins involved in urea biosynthesis. In this paper, we report a patient who presented with neurological dysfunction and coma in the immediate postpartum period. She was misdiagnosed for many years as a case of multiple sclerosis. The importance of reporting this case is to illustrate that the wrong diagnosis of patients as being affected with multiple sclerosis for many years due to magnetic resonance imaging abnormalities rather than the classic relapsing-remitting nature of the disease may lead to catastrophic consequences...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28634840/self-inflicted-abdominal-stab-wounds-have-a-higher-rate-of-non-therapeutic-laparotomy-laparoscopy-and-a-lower-risk-of-injury
#2
Nikolay Bugaev, Kevin McKay, Janis L Breeze, Sandra S Arabian, Reuven Rabinovici
BACKGROUND: The profile and management of self-inflicted abdominal stab wounds (SI-ASW) patients is still obscure. METHODS: The National Trauma Data Bank (2012) was queried for adults with abdominal stab wounds (n = 9544). Patients with SI-ASW (n = 1724) and non-SI-ASW (n = 7820) were compared. Predictors for non-therapeutic laparotomy/laparoscopy (non-TL) in SI-ASW patients were identified. RESULTS: SI-ASW patients were older, had more females and behavioral disorders, similar physiology, but a lower Injury Severity Score...
June 20, 2017: World Journal of Surgery
https://www.readbyqxmd.com/read/28633545/late-recovery-of-awareness-in-prolonged-disorders-of-consciousness-a-cross-sectional-cohort-study
#3
Kudret Yelden, Sophie Duport, Leon M James, Agnieszka Kempny, Simon F Farmer, Alex P Leff, E Diane Playford
PURPOSE: To detect any improvement of awareness in prolonged disorders of consciousness in the long term. METHODS: A total of 34 patients with prolonged disorders of consciousness (27 vegetative state and seven minimally conscious state; 16 males; aged 21-73) were included in the study. All patients were initially diagnosed with vegetative/minimally conscious state on admission to our specialist neurological rehabilitation unit. Re-assessment was performed 2-16 years later using Coma Recovery Scale-Revised...
June 21, 2017: Disability and Rehabilitation
https://www.readbyqxmd.com/read/28633266/complete-neurological-recovery-after-acute-total-occlusion-of-the-superior-vena-cava
#4
Yafen Liang, Clayton A Kaiser, Matthew R Danter
Superior vena cava (SVC) syndrome, characterized by swelling of the upper torso, can result from a wide range of causes. The presence and severity of clinical symptoms depends on the degree of stenosis, the location of stenosis, the speed of development of stenosis, and existing collateral flow. Acute complete occlusion of the SVC frequently leads to poor neurologic outcomes such as coma or death. We report a case of a patient who had complete neurologic recovery after 26 minutes of acute total occlusion of the SVC...
July 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28633070/length-and-repeat-sequence-variation-in-58-strs-and-94-snps-in-two-spanish-populations
#5
Ferran Casals, Roger Anglada, Núria Bonet, Raquel Rasal, Kristiaan J van der Gaag, Jerry Hoogenboom, Neus Solé-Morata, David Comas, Francesc Calafell
We have genotyped the 58 STRs (27 autosomal, 24 Y-STRs and 7 X-STRs) and 94 autosomal SNPs in Illumina ForenSeq™ Primer Mix A in 88 Spanish Roma (Gypsy) samples and 143 Catalans. Since this platform is based in massive parallel sequencing, we have used simple R scripts to uncover the sequence variation in the repeat region. Thus, we have found, across 58 STRs, 541 length-based alleles, which, after considering repeat-sequence variation, became 804 different alleles. All loci in both populations were in Hardy-Weinberg equilibrium...
June 16, 2017: Forensic Science International. Genetics
https://www.readbyqxmd.com/read/28632657/role-of-computed-tomography-in-the-classification-of-pediatric-pelvic-fractures-revisited
#6
Melissa A Bent, William L Hennrikus, Johan E Latorre, Douglas G Armstrong, Brian Shaw, Kerwyn C Jones, Lee S Segal
OBJECTIVES: To determine the need for computerized tomography (CT) scans in the assessment of pediatric pelvic fractures. DESIGN: Retrospective Chart Review. SETTING: Level-1 Pediatric Trauma Center. PATIENTS/PARTICIPANTS: Thirty pediatric trauma patients with pelvic fractures who have obtained both a radiograph and CT scan. MAIN OUTCOME MEASUREMENTS: Fleiss Kappa coefficient to compare interreliability...
July 2017: Journal of Orthopaedic Trauma
https://www.readbyqxmd.com/read/28630395/cerebral-infarction-by-paradoxical-gas-embolism-during-laparoscopic-liver-resection-with-injury-of-the-hepatic-vessels-in-a-patient-without-a-right-to-left-systemic-shunt
#7
Toshiyasu Kawahara, Masahiro Hagiwara, Hiroyuki Takahashi, Mariko Tanaka, Koji Imai, Jun Sawada, Takayuki Kunisawa, Hiroyuki Furukawa
BACKGROUND Carbon dioxide (CO2) is believed to be the safest gas for laparoscopic surgery, which is a standard procedure. We experienced severe cerebral infarction caused by paradoxical CO2 embolism during laparoscopic liver resection with injury of the hepatic vessels despite the absence of a right-to-left systemic shunt. CASE REPORT A 60-year-old man was diagnosed with hepatocellular carcinoma in the right hepatic lobe secondary to alcoholic liver disease. We planned the laparoscopy-assisted liver resection...
June 20, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28628503/influence-of-refractive-status-on-the-higher-order-aberration-pattern-after-small-incision-lenticule-extraction-surgery
#8
Liuyang Li, George P M Cheng, Alex L K Ng, Tommy C Y Chan, Vishal Jhanji, Yan Wang
PURPOSE: To study the effect of myopia on the pattern change in higher-order aberrations after small incision lenticule extraction. METHODS: Sixty eyes of 60 patients were included: low myopia (≤-3.00 D), moderate myopia (-3.00 D to -6.00 D), and high myopia (≥-6.00 D). Total higher-order aberrations (tHOA), vertical coma (C3), horizontal coma (C3), and spherical aberration (C4) were measured preoperatively and at postoperative 3 months. RESULTS: At the end of 3 months, tHOA changed significantly compared with the preoperative values (P < 0...
June 14, 2017: Cornea
https://www.readbyqxmd.com/read/28628489/shifting-of-the-line-of-sight-in-tilted-disk-syndrome
#9
Pinar Kosekahya, Ozge Sarac, Mustafa Koc, Mehtap Caglayan, Gozde Hondur, Nurullah Cagil
OBJECTIVES: To investigate the shifting of the line of sight (LoS) and the refractive, topographic, and aberrometric parameters that may be associated with the shifting of the LoS in eyes with tilted disk syndrome (TDS). METHODS: Eighty left eyes of 80 subjects with TDS (Study Group) and 70 left eyes of 70 subjects with myopia and astigmatism (Control Group) were included in this study. Line-of-sight coordinates on the horizontal (x) and vertical (y) axes, refractive, topographic, and aberrometric parameters were evaluated...
June 16, 2017: Eye & Contact Lens
https://www.readbyqxmd.com/read/28626821/mesopic-visual-quality-after-accelerated-corneal-cross-linking-a-12-month-follow-up-study
#10
Hassan Hashemi, Soheila Asgari
PURPOSE: To determine the 1-year changes of mesopic higher order aberrations (HOAs) and contrast sensitivity (CS) after accelerated corneal cross linking (CXL) in progressive keratoconus. METHODS: In this prospective case series, 70 eyes of 62 keratoconic patients underwent accelerated CXL (18 mW/cm(2), 5 min). HOAs and CS were measured using the OPD Scan III and CSV-1000 CS test charts under mesopic conditions before and 6 and 12 months after CXL. RESULTS: At 1 year, logarithmic mesopic CS in spatial frequencies of 3, 6, 12, and 18 cycles per degree (CPD) had increased by 0...
June 2017: Journal of Current Ophthalmology
https://www.readbyqxmd.com/read/28626543/cerebral-stroke-in-a-teenage-girl-with-paroxysmal-nocturnal-hemoglobinuria
#11
Francesco Gervasi, Lucia D'Amelio, Antonino Trizzino, Fabrizia Ferraro, Delia Russo, Giuseppe Santangelo, Francesca Cardella, Angela Trizzino, Floriana Di Marco, Piero Farruggia
We report a case of paroxysmal nocturnal hemoglobinuria (PNH) in a 14 year-old girl presenting a cerebral arterial thrombosis. The initial diagnosis was carential anemia due to menarche following identification of slight macrocytic anemia, leucopenia and mild thrombocytopenia at routine blood analysis. The child was eventually referred to a children's hospital after the onset of progressive fatigue, anorexia and paleness. Severe anemia (hemoglobin 6 g/dL) with negative Coombs test, mild leucopenia (white blood cells 4...
June 1, 2017: Hematology Reports
https://www.readbyqxmd.com/read/28626178/hypoglycemic-coma-induced-by-the-use-of-succinic-acid-cibenzoline-in-frail-late-stage-elderly-subjects
#12
Yurie Hirata, Shinji Kamei, Fuminori Tatsumi, Masashi Shimoda, Akihito Tanabe, Junpei Sanada, Yoshiro Fushimi, Shintaro Irie, Tomoatsu Mune, Kohei Kaku, Hideaki Kaneto
Succinic acid cibenzoline (CZ) is an antiarrhythmic agent often used for the treatment of tachyarrhythmia. However, hypoglycemia should be avoided in the treatment of diabetes. We herein report two late-stage elderly subjects who experienced a severe and prolonged hypoglycemic coma after the usage of CZ. These cases suggest that, when CZ is administered to elderly subjects with renal dysfunction and/or frailty, we should be aware of the possibility that this medicine may induce hypoglycemia and should adjust the dose as appropriate and monitor the concentration of CZ to avoid severe hypoglycemia...
2017: Internal Medicine
https://www.readbyqxmd.com/read/28625272/-research-progress-in-the-multiple-organ-dysfunction-syndrome-caused-by-heat-stroke
#13
Mengmeng Yang, Yu Zhang, Yan Zhao, Hongjun Kang
Heat stroke (HS) is a life-threatening illness characterized by core body temperatures above 40 °C coupled with central nervous system (CNS) dysfunction, including delirium, convulsions, and/or coma. Its morbidity has increased dramatically in the past few decades. Multiple organ dysfunction syndrome (MODS) is not only the most serious complication of HS, but also the leading cause of deaths. Understanding the pathogenesis, characteristic and advancement pattern of MODS caused by HS will have a profound effect on the clinical treatment, research and mortality decrease...
February 2017: Zhonghua Wei Zhong Bing Ji Jiu Yi Xue
https://www.readbyqxmd.com/read/28625260/-predictive-value-of-four-different-scoring-systems-for-septic-patient-s-outcome-a-retrospective-analysis-with-311-patients
#14
Shengbiao Wang, Tao Li, Yunfeng Li, Jianwen Zhang, Xingui Dai
OBJECTIVE: To study the predicting value of four different scoring systems such as the acute physiology and chronic health evaluation II (APACHE II) score, sequential organ failure assessment (SOFA) score, quick SOFA (qSOFA) score and systemic inflammatory response syndrome (SIRS) score for the prognosis of septic patients. METHODS: A retrospective analysis were conducted. Septic patients in intensive care unit (ICU) of the First People's Hospital of Chenzhou form July 1st, 2012 to June 30th, 2016 were enrolled...
February 2017: Zhonghua Wei Zhong Bing Ji Jiu Yi Xue
https://www.readbyqxmd.com/read/28625252/-cerebral-injury-induced-by-heat-stroke-and-the-therapeutic-effect-of-hyperbaric-oxygen-therapy
#15
Xiaoxiao Ni, Zhifeng Liu, Qiuyou Xie, Huasheng Tong, Lei Su, Ronghao Yu
With the global warming, the incidence of heat stroke was significantly higher than before. Severe heat stroke has a high mortality, high morbidity and consolidated central nervous system injury characteristics. The main features of severe heat stroke cerebral injury include cognitive impairment, delirium, convulsions and coma. Its mechanism is related with heat shock induced cerebral tissue ischemia and hypoxia, vascular dysfunction, secondary cascade inflammation and so on. Currently, the main treatment of heat stroke cerebral injury is the hypothermia therapy, dehydration for the reduction of intracranial pressure, naloxone and other cerebral protection and nutrition treatments...
June 2017: Zhonghua Wei Zhong Bing Ji Jiu Yi Xue
https://www.readbyqxmd.com/read/28624934/low-serum-diamine-oxidase-dao-activity-levels-in-patients-with-migraine
#16
Joan Izquierdo-Casas, Oriol Comas-Basté, M Luz Latorre-Moratalla, Marian Lorente-Gascón, Adriana Duelo, M Carmen Vidal-Carou, Luis Soler-Singla
Histamine intolerance is a disorder in the homeostasis of histamine due to a reduced intestinal degradation of this amine, mainly caused by a deficiency in the enzyme diamine oxidase (DAO). Among the several multi-faced symptoms associated with histamine intolerance, headache is one of the most recognized and disabling consequences. The aim of this study was to determine the prevalence of DAO deficiency in patients with a confirmed migraine diagnosis according to the current International Headache Society (IHS) and in non-migraine subjects...
June 17, 2017: Journal of Physiology and Biochemistry
https://www.readbyqxmd.com/read/28624592/post-anoxic-quantitative-mri-changes-may-predict-emergence-from-coma-and-functional-outcomes-at-discharge
#17
Alexandra S Reynolds, Xiaotao Guo, Elizabeth Matthews, Daniel Brodie, Leroy E Rabbani, David J Roh, Soojin Park, Jan Claassen, Mitchell S V Elkind, Binsheng Zhao, Sachin Agarwal
BACKGROUND: Traditional predictors of neurological prognosis after cardiac arrest are unreliable after targeted temperature management. Absence of pupillary reflexes remains a reliable predictor of poor outcome. Diffusion-weighted imaging has emerged as a potential predictor of recovery, and here we compare imaging characteristics to pupillary exam. METHODS: We identified 69 patients who had MRIs within seven days of arrest and used a semi-automated algorithm to perform quantitative volumetric analysis of apparent diffusion coefficient (ADC) sequences at various thresholds...
June 15, 2017: Resuscitation
https://www.readbyqxmd.com/read/28624560/intracranial-hypotension-following-traumatic-brain-injury-a-diagnostic-and-therapeutic-challenge
#18
Jacob Chen Ming Low, Anan Shtaya, Samantha Hettige
BACKGROUND: Intracranial hypotension (IH) is a recognised cause of coma, however, the diagnosis is often challenging, especially in patients with superimposed traumatic brain injury (TBI). CASE REPORT: We report a case of a 67-year-old patient who became comatose following evacuation of bilateral acute subdural haematomas with concurrent respiratory failure. Imaging and intraparenchymal intracranial pressure (ICP) monitoring confirmed secondary IH. She was managed with an epidural blood patch, and a 72 hours period in the trendelenberg position guided by ICP monitoring and clinical assessment...
June 14, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28623943/does-metabolic-syndrome-predict-surgical-complications-a-protocol-for-a-systematic-review-and-meta-analysis
#19
Philip Norris, Nicholas Ralph, Clint Moloney
BACKGROUND: Metabolic syndrome (MetS) is defined by an accumulation of risk factors that include cardiovascular disease, diabetes, chronic high blood pressure, obesity, and hypercholesterolaemia which results in an increased risk of developing serious chronic diseases. MetS is widespread as it is estimated to affect up to 30% of the global population. For people with MetS who undergo surgery, an emerging body of literature points to significantly poorer postoperative outcomes compared with non-affected populations...
June 17, 2017: Systematic Reviews
https://www.readbyqxmd.com/read/28623805/heroin-and-pharmaceutical-opioid-overdose-events-emergency-medical-response-characteristics
#20
Caleb J Banta-Green, Phillip O Coffin, Jennie A Schoeppe, Joseph O Merrill, Lauren K Whiteside, Abigail K Ebersol
BACKGROUND: Emergency Medical Services (EMS) data may provide insight into opioid overdose incidence, clinical characteristics, and medical response. This analysis describes patient characteristics, clinical features, and EMS response to opioid overdoses, comparing heroin and pharmaceutical opioid (PO) overdoses, using a structured opioid overdose case criteria definition. METHODS: A case series study was conducted. EMS medical staff screened cases for possible overdoses and study staff categorized the likelihood of opioid overdose...
June 10, 2017: Drug and Alcohol Dependence
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