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https://www.readbyqxmd.com/read/28432995/eye-disorder-differentiates-seasonality-outcomes-in-persons-with-severe-visual-impairment
#1
Heller Madsen, Henrik Dam, Ida Hageman
BACKGROUND: Light plays a crucial role in both the pathogenesis and treatment of seasonal affective disorder (SAD). Consequently decreased retinal sensitivity to light has been suggested to be a risk factor for SAD. In a population of persons with severe visual impairment we recently found a highly increased prevalence of SAD. We now aimed to identify eye disorders or anatomical locations with specific association to seasonality. METHODS: In 912 cases (33%) from our prior seasonal pattern assessment questionnaire (SPAQ) screening study, we retrieved eye diagnoses from the Danish National Patient Registry and analyzed for specific eye disorders or anatomical locations that significantly differentiated SPAQ outcomes (global seasonality score, (GSS) and SPAQ-SAD prevalence)...
April 13, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28432931/acute-appendicitis-presenting-as-an-abdominal-wall-abscess-a-case-report
#2
Khalid Ahmed, Suhail Hakim, Ahmed M Suliman, Ammar Aleter, Ayman El-Menyar, Sheriff Abdulazeim Mustafa, Ahmad Zarour, Hassan Al-Thani
INTRODUCTION: Amyand hernia (AH) is a rare type of hernia characterized by the presence of appendix vermiformis in the inguinal hernial sac. It is rarely reported in women. PRESENTATION OF CASE: We presented a case of a 60- year old woman who was admitted initially with an abdominal wall abscess and found to have perforated appendix in the right inguinal hernia. The patient underwent standard open appendectomy and the post-operative course was uneventful. DISCUSSION: The initial presentation of our case as an abdominal wall abscess is rare in the contemporary literature...
April 4, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28432771/a-rare-variant-in-tor1a-exon-5-associated-with-isolated-dystonia-in-southwestern-chinese
#3
Yuzhou Long, Yang Chen, Yuan Qian, Jianlin Wang, Lihua Luo, Xiaoqin Huang, Li Li, Jiayou Chu, Zhaoqing Yang, Hao Sun
BACKGROUND: TOR1A has been proposed as an important genetic factor in early-onset isolated dystonia. Variants located in the 3' untranslated region of TOR1A are of particular importance because they may influence gene expression, although related studies are limited. The objectives of the present study focused on variants in the TOR1A 3' untranslated region. METHODS: The last exon of TOR1A was sequenced in 229 cases with isolated dystonia and in 210 controls. In addition, 471 controls were tested to determine the frequency of the variants in the 3' untranslated region...
April 22, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/28432762/microvascular-replantation-of-head-and-neck-amputated-parts-a-systematic-review
#4
REVIEW
Johnny I Efanov, Ixchel J Montoya, Ke N Huang, Charles Guertin, Patrick G Harris, Joseph Bou-Merhi, Alain M Danino
BACKGROUND: As opposed to upper and lower extremity amputations representing a considerable volume of admissions, the prowess of microsurgeons is seldom solicited in complex cases of head and neck replantation. Our aim was to determine the rate of successful replantation of craniofacial parts in a systematic review of the literature. METHODS: We performed a systematic review of English literature using PubMed/MEDLINE for every replantation of a head and neck parts...
April 22, 2017: Microsurgery
https://www.readbyqxmd.com/read/28432740/novel-3q27-2-qter-deletion-in-a-patient-with-diamond-blackfan-anemia-and-immunodeficiency-case-report-and-review-of-literature
#5
Ebba Alkhunaizi, Brett Schrewe, Reza Alizadehfar, Catherine Vézina, Grant S Stewart, Nancy Braverman
3q27.2-qter deletion syndromes feature an overlapping set of terminal and interstitial deletions with variable congenital malformations. Diamond-Blackfan anemia (DBA) is etiologically heterogeneous disorder in which one cause is dominant mutations of the RPL35A gene on 3q29. We report a child with a 3q27.2-qter deletion that contains the RPL35A gene. She had clinical and laboratory features consistent with DBA and as well, an unexplained immunodeficiency disorder. Given these unusual findings, we reviewed other patients in the literature with overlapping genomic deletions...
April 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28432738/tick-bite-and-lyme-disease-related-emergency-department-encounters-in-new-hampshire-2010-2014
#6
E R Daly, C Fredette, A A Mathewson, K Dufault, D J Swenson, B P Chan
Lyme disease (LD) is a common tick-borne disease in New Hampshire (NH). While LD is a reportable condition and cases are counted for public health surveillance, many more people receive care for tick bites or diagnoses of LD than are reflected in surveillance data. NH's emergency department (ED) data system was queried for tick bite and LD-related encounters. Chief complaint text was queried for words related to LD or tick bites. International Classification of Diseases 9th Revision (ICD-9) codes were queried for the LD diagnosis code (088...
April 22, 2017: Zoonoses and Public Health
https://www.readbyqxmd.com/read/28432736/severe-primary-autoimmune-thrombocytopenia-itp-in-pregnancy-a-national-cohort-study
#7
A Care, S Pavord, M Knight, Z Alfirevic
OBJECTIVE: To quantify UK incidence of severe ITP in pregnancy, determine current treatment strategies and establish maternal and neonatal morbidity and mortality associated with severe ITP in pregnancy. DESIGN: A prospective national cohort study SETTING: United Kingdom POPULATION: Women with severe ITP; defined as platelets <50 x 10(9) /l in pregnancy or antenatal treatment of isolated low platelets. METHODS: Data collected via United Kingdom Obstetric Surveillance System (UKOSS) between 1(st) June 2013-31(st) January 2015 from all UK Consultant led obstetric units...
April 22, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28432678/anal-metastasis-of-rectal-cancer-adenocarcinoma-of-squamous-cells-a-case-report-and-literature-review
#8
Shun Sasaki, Masahiko Sugiyama, Yu Nakaji, Ryota Nakanishi, Yuichiro Nakashima, Hiroshi Saeki, Eiji Oki, Yoshinao Oda, Yoshihiko Maehara
Anal metastasis of colorectal cancer is very rare and is usually associated with a history of anal disease, including anal fistula, fissure, hemorrhoidectomy, and anastomotic injury. We report a case of rectal cancer with a synchronous anal metastasis consisting of adenocarcinoma of squamous cells without a history of anal disease. A 60-year-old woman had a chief complaint of melena. She had a 1.5-cm anal tumor on the perianal skin, and a Bollman type 2 rectal tumor on the Ra portion was found on colonoscopy...
December 2017: Surgical Case Reports
https://www.readbyqxmd.com/read/28432641/dentatorubro-pallidoluysian-atrophy-drpla-among-700-families-with-ataxia-in-brazil
#9
Pedro Braga-Neto, José Luiz Pedroso, Gabriel Vasata Furtado, Tailise Conte Gheno, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, Orlando G P Barsottini
Dentatorubro-pallidoluysian atrophy (DRPLA) is a spinocerebellar ataxia (SCA) very rare in non-Asian populations. To date, DRPLA was undetected in the general Brazilian population. Adult-onset ataxic patients have been recruited from several Brazilian neurology and neurogenetics centers. CAG lengths at SCA1, SCA2, SCA3/MJD, SCA6, SCA7, SCA12, SCA17 and DRPLA associated genes, and ATTCT expansions at SCA10 gene were studied. A single DRPLA case detected is reported. Proband was a 69-year-old Brazilian woman of mixed ancestry, with a late-onset pure ataxia: her alleles at the associated gene, ATN1, presented 14/52 CAG repeats...
April 21, 2017: Cerebellum
https://www.readbyqxmd.com/read/28432636/what-is-the-current-knowledge-about-the-cardiovascular-risk-for-users-of-cannabis-based-products-a-systematic-review
#10
REVIEW
Emilie Jouanjus, Valentin Raymond, Maryse Lapeyre-Mestre, Valérie Wolff
PURPOSE OF REVIEW: The purpose of the study was to examine the published evidence on the cardiovascular risk related to the use of cannabis-based products by performing a systematic review of recent literature. RECENT FINDINGS: The World Health Organization (WHO) emphasizes that cannabis use represents a risky behavior as it may lead to many adverse effects, and in particular, cardiovascular effects. A systematic review of articles published between January 1, 2011 and May 31, 2016 was performed in agreement with the PRISMA statement...
June 2017: Current Atherosclerosis Reports
https://www.readbyqxmd.com/read/28432624/delivering-environmental-benefit-from-the-use-of-environmental-quality-standards-why-we-need-to-focus-on-implementation
#11
Graham Merrington, Adam Peters, Paul Whitehouse, Robin Clarke, Dan Merckel
The UK has adopted a broader approach to the introduction of Environmental Quality Standard (EQS) for the aquatic environment than many other jurisdictions around the world, with a greater focus on the implementation of scientifically derived standards. This follows the publication of a report by the Royal Commission on Environmental Pollution in 1998 which drew attention to the need to recognise that whilst an EQS is often just viewed as a numerical value, it also has other important characteristics that need to be recognised if it is to be a practical and effective regulatory tool...
April 21, 2017: Environmental Science and Pollution Research International
https://www.readbyqxmd.com/read/28432584/clinical-features-and-long-term-outcomes-of-pediatric-spinal-meningiomas
#12
Liang Wu, Chenlong Yang, Tie Liu, Jingyi Fang, Jun Yang, Yulun Xu
Pediatric spinal meningiomas are very rare. Most studies on pediatric spinal meningiomas are case reports with literature reviews. This study presented a surgical series of 14 pediatric patients with histologically proven sporadic spinal meningiomas, including 5 WHO grade II tumors. In this series, there were 9 male and 5 female patients with a mean age of 11.1 years. Seven tumors were located in the cervical spine, 5 in the thoracic spine, and 2 in the lumbar spine. Gross total resection (GTR) of the tumor with a well-demarcated dissection plane was achieved in 11 cases, subtotal resection was achieved in 2 cases, and partial resection was performed in 1 case...
April 21, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/28432572/micropapillary-bladder-cancer-a-clinico-pathological-characterization-and-treatment-analysis
#13
Z Li, H Liao, Z Tan, D Mao, Y Wu, Y M Xiao, S K Yang, L Zhong
PURPOSE: Micropapillary bladder cancer (MPBC) is a very rare and aggressive variant of urothelial carcinoma (UC). The aim of this study was to investigate the clinico-pathological characteristics, treatment, and prognosis of MPBC to improve the understanding of this invasive disease. METHODS: We reviewed the records of 6 patients with MPBC who were evaluated and treated at our hospital between 2009 and 2015, and additionally reviewed 38 cases reported in the literature...
April 21, 2017: Clinical & Translational Oncology
https://www.readbyqxmd.com/read/28432520/unexpected-death-after-occipital-condylar-fracture
#14
Vincent J Bulthuis, E M J Cornips, J Dings, H van Santbrink, A A Postma
We present a rare fatal complication of an occipital condylar fracture. The patient was initially neurologically intact, but showed secondary clinical deterioration. Imaging revealed extensive extra-axial hemorrhage at the craniocervical junction and an acute obstructive hydrocephalus. MR imaging demonstrated a T2 hyperintens signal in both the lower brainstem and upper cervical spinal cord, likely caused by the extra-axial hemorrhage. As prognosis was estimated infaust, supportive treatment was discontinued and the patient died soon thereafter...
April 21, 2017: Acta Neurochirurgica
https://www.readbyqxmd.com/read/28432468/population-pharmacokinetics-of-intravenous-acetaminophen-in-japanese-patients-undergoing-elective-surgery
#15
Tsuyoshi Imaizumi, Shinju Obara, Midori Mogami, Yuzo Iseki, Makiko Hasegawa, Masahiro Murakawa
INTRODUCTION: Intravenous (i.v.) acetaminophen is administered during surgery for postoperative analgesia. However, little information is available on the pharmacokinetics of i.v. acetaminophen in Japanese patients undergoing surgery under general anesthesia. METHODS: The study was approved by the Institutional Review Board and registered at UMIN-CTR (UMIN000013418). Patients scheduled to undergo elective surgery under general anesthesia were enrolled after obtaining written informed consent...
April 21, 2017: Journal of Anesthesia
https://www.readbyqxmd.com/read/28432434/ventricular-androgenic-anabolic-steroid-related-remodeling-an-immunohistochemical-study
#16
Rossana Cecchi, Barbara Muciaccia, Costantino Ciallella, Natale Mario Di Luca, Akihiko Kimura, Cristina Sestili, Mizuho Nosaka, Toshikazu Kondo
BACKGROUND: Several fatal cases of bodybuilders, following a myocardial infarction after long exposure to androgenic-anabolic steroids (AAS), are reported. In recent years, evidence has emerged of cases of heart failure related to AAS consumption, with no signs of coronary or aorta atherosclerosis. This study aims to further investigate the pathogenesis of the ventricular AAS-related remodeling performing immunohistochemistry (IHC). METHOD: In order to examine innate immunity activity and myocytes and endothelial cell apoptosis, IHC analyses were performed on heart tissue of two cases of bodybuilders who died after years of supratherapeutic use of metelonone and nandrolone and where no atherosclerosis or thrombosis were found, using the following antibodies: anti-CD68, anti-iNOS, anti-CD163, anti-CD 15, anti-CD8, anti-CD4, anti-HIF1 α, and in situ TUNEL staining...
April 21, 2017: International Journal of Legal Medicine
https://www.readbyqxmd.com/read/28432418/-because-we-feel-we-have-to-do-something-barriers-in-the-prevention-of-violence-and-key-areas-requiring-action-a%C3%A2-qualitative-interview-study-with-professional-nurses-and-managers-in-the-field-of-elderly-care
#17
Melanie Siegel, Yuliya Mazheika, Regina Mennicken, Stefanie Ritz-Timme, Hildegard Graß, Britta Gahr
BACKGROUND: In recent years, politics and society have shown an increasing interest in the prevention of violence. Despite the scientific studies and prevention programs that have been conducted over the past few years, there is no indication that the prevalence of violence in elderly care is falling. A high number of unreported cases may still be assumed. OBJECTIVE: The present study examined the barriers in transferring research knowledge into practice. Furthermore, it dealt with the requirements of an interventional approach which is practical and which effectively addresses the barriers...
April 21, 2017: Zeitschrift Für Gerontologie und Geriatrie
https://www.readbyqxmd.com/read/28432408/a-rare-anastomosis-between-the-common-hepatic-artery-and-the-superior-mesenteric-artery-a-case-report
#18
Łukasz Olewnik, Grzegorz Wysiadecki, Michał Polguj, Mirosław Topol
For decades, anastomoses between unpaired branches of the abdominal aorta have attracted the attention of anatomists, surgeons and radiologists, due to their significance in many clinical procedures. This report presents a rare anastomosis between the common hepatic artery and the superior mesenteric artery, which gave off three branches to the jejunum. The diameter of the anastomosis measured at the point of its branching off the common hepatic artery and at the level of union with the superior mesenteric artery was 4...
April 21, 2017: Surgical and Radiologic Anatomy: SRA
https://www.readbyqxmd.com/read/28432296/aminoglycosides-but-not-ptc124-ataluren-rescue-nonsense-mutations-in-the-leptin-receptor-and-in-luciferase-reporter-genes
#19
Florian Bolze, Sabine Mocek, Anika Zimmermann, Martin Klingenspor
In rare cases, monogenetic obesity is caused by nonsense mutations in genes regulating energy balance. A key factor herein is the leptin receptor. Here, we focus on leptin receptor nonsense variants causing obesity, namely the human W31X, murine Y333X and rat Y763X mutations, and explored their susceptibilities to aminoglycoside and PTC124 mediated translational read-through in vitro. In a luciferase based assay, all mutations - when analysed within the mouse receptor - were prone to aminoglycoside mediated nonsense suppression with the highest susceptibility for W31X, followed by Y763X and Y333X...
April 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28432284/treatment-with-recombinant-factor-xiii-tretten-in-a-pregnant-woman-with-factor-xiii-deficiency
#20
Nizar Abdel-Samad
BACKGROUND Factor XIII deficiency is associated with recurrent miscarriages in women. CASE REPORT In this report, we present a patient with factor XIII deficiency and some comorbidities who had had previous miscarriages. She began treatment with factor XIII subunit A (XIII-A) replacement treatment Recombinant factor XIII (Tretten) at a dose of 2500 units monthly and was able, for the first time, to carry a pregnancy almost to term. Although she experienced some obstetrical complications, she delivered a healthy baby...
April 22, 2017: American Journal of Case Reports
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