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https://www.readbyqxmd.com/read/29043885/first-report-of-hb-kent-%C3%AE-37-c3-trp%C3%A2-cys-tgg-tgc-hbb-c-114g-c-in-a-chinese-family
#1
Nelson C N Chan, King-Ho Chow, Rico F Y Leung, Sequence S H Tang, Michelle F W Chiu, Rosalind Lie, Kelvin C K Cheng, Kin-Mang Lau, Natalie P H Chan, Margaret H L Ng
We report a novel HBB: c.114G>C mutation in a Chinese family. This mutation resulted in a β37(C3)Trp→Cys amino acid substitution and was synonymous with Hb Kent, a hemoglobin (Hb) variant that was reported exclusively in patients of European descent. Though Hb Kent has a normal oxygen affinity and molecular stability, it has a characteristic dual variant appearance on cellulose acetate electrophoresis (CAE) and high performance liquid chromatography (HPLC) caused by the posttranslational modification of cysteine...
October 18, 2017: Hemoglobin
https://www.readbyqxmd.com/read/29032069/woman-s-pre-conception-evaluation-genetic-and-fetal-risk-considerations-for-counselling-and-informed-choice
#2
REVIEW
R Douglas Wilson
OBJECTIVE: To inform reproductive and other health care providers about genetic and fetal risk information to consider during a woman/couples' pre-conception evaluation, including considerations for genetic risk assessment, genetic screening, or testing to allow for improved counselling and informed choice. OPTIONS: This genetic information can be used for patient education, planning, and possible pre-conception and/or prenatal testing. OUTCOMES: This information may allow improved risk assessment for pre-conception counselling for individual patients and their families...
October 11, 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/29026386/effect-of-posture-on-swallowing
#3
Ahmad H Alghadir, Hamayun Zafar, Einas S Al-Eisa, Zaheen A Iqbal
BACKGROUND: Swallowing is a systematic process. Any structural, physiological or neurological disturbance in this process may cause dysphagia. Although there are studies that report head/neck movements during mastication, there are fewer studies that show the effect of different head/neck postures on difficulty while swallowing. OBJECTIVES: To observe the effect of different body postures on the self-perceived difficulty while swallowing in normal healthy subjects...
March 2017: African Health Sciences
https://www.readbyqxmd.com/read/29020728/diagnosing-testicular-lumps-in-primary-care
#4
Tom Stonier, Nick Simson, Ben Challacombe
Although the incidence of testicular cancer has increased over the past few decades, testicular tumours are still rare and many GPs will only see one or two new diagnoses in their career. In one UK study, out of 845 patients who had been referred with testicular lumps or pain, only 33 (4%) were diagnosed with testicular cancer. Epididymal cysts, or spermatoceles when containing sperm, were the most common finding, and were found in 228 patients (27%). The second most common finding was hydrocele, a fluid collection between the parietal and visceral layers of the tunica vaginalis, which was found in 96 patients (11%)...
April 2017: Practitioner
https://www.readbyqxmd.com/read/28991089/retained-needle-following-transanal-hemorrhoidal-dearterialization
#5
Valerio Celentano, Anjan Banerjee, Federico Luvisetto, Syed Naqvi, Jim Khan
INTRODUCTION: A needle was retained during transanal hemorrhoidal dearterialization. This rare complication has not been described before. TECHNIQUE: A spinal needle was inserted from the perianal skin to localize the retained foreign body that was located at 7 cm from the anal margin. A decision was made to proceed to intersphincteric dissection, and a 3-cm incision was made in the perianal skin from 2 to 4 o'clock. Deep pararectal dissection continued, and the needle was eventually found lying in the muscular layer, parallel to the plane of the dissection...
November 2017: Diseases of the Colon and Rectum
https://www.readbyqxmd.com/read/28990464/the-opinions-of-ambulance-personnel-regarding-using-a-heated-mattress-for-patients-being-cared-for-in-a-cold-climate-an-intervention-study-in-ambulance-care
#6
Jonas Aléx, Tom Uppstu, Britt-Inger Saveman
The purpose of the study was to describe the opinions of ambulance personnel regarding differences between using a heated mattress and a standard ambulance mattress. This study was an intervention study with pre- and post-evaluation. Evaluations of the opinions of personnel regarding the standard unheated mattress were conducted initially. After the intervention with new heated mattresses, follow-up evaluations were conducted. Ambulance personnel (n=64) from an ambulance station in northern Sweden took part in the study, which ran from October 2014 until February 2016...
2017: International Journal of Circumpolar Health
https://www.readbyqxmd.com/read/28990456/cerebrospinal-fluid-spaces-between-intracranial-venous-sinuses-and-overlying-dura-mater-magnetic-resonance-imaging
#7
Satoshi Tsutsumi, Hideo Ono, Yukimasa Yasumoto
Purpose The intracranial venous sinuses are thought to lie interdurally, circumferentially contacting the dura maters. There has been no report documenting the cerebrospinal fluid spaces intervening between the venous sinuses and overlying dura mater. Here, we explored such structures using magnetic resonance imaging. Methods A total of 206 patients underwent magnetic resonance imaging with a T2-weighted or constructive interference steady-state sequence. Imaging data were analysed on a workstation. Results The peri-superior sagittal sinus cerebrospinal fluid spaces were identified in 100% of 133 patients who underwent coronal and sagittal T2-weighted imaging and in 98...
January 1, 2017: Neuroradiology Journal
https://www.readbyqxmd.com/read/28988401/the-trabecular-bone-score-tbs-complements-dxa-and-the-frax-as-a-fracture-risk-assessment-tool-in-routine-clinical-practice
#8
REVIEW
Didier Hans, Emőke Šteňová, Olivier Lamy
PURPOSE OF THE REVIEW: There is an increasing body of evidence that the trabecular bone score (TBS), a surrogate of bone microarchitecture extracted from spine DXA, could play an important role in the management of patients with osteoporosis or at risk of fracture. The current paper reviews this published body of scientific literature on TBS and answers the most relevant clinical questions. RECENT FINDINGS: TBS has repeatedly been proven to be predictive of fragility fractures, current and future, and this is largely independent of BMD, CRF, and the FRAX, and when used in conjunction with any one of these measures, it consistently enhances their accuracy...
October 7, 2017: Current Osteoporosis Reports
https://www.readbyqxmd.com/read/28987834/subtemporal-approach-for-gross-total-resection-of-retrochiasmatic-craniopharyngiomas-our-experience-on-30-cases
#9
Grzegorz Zieliński, Emir Ahmed Sajjad, Łukasz Robak, Andrzej Koziarski
BACKGROUND: Surgical treatment of retrochiasmatic craniopharyngiomas is associated with higher rates of complications, mortality, failure of complete removal, and recurrence when compared to craniopharyngiomas located elsewhere. These tumors lie behind the optic chiasm and, when large, can extend upward into the third ventricle and downward along the brain stem making their adequate exposure challenging. Most of the proposed techniques either employ a trans lamina terminalis route or require wide bony exposures...
October 4, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28977336/prevalence-of-scoliosis-in-public-elementary-school-students
#10
Maria Célia Cunha Ciaccia, Julia Silvestre de Castro, Mariana Abduch Rahal, Barbarah Silveira Penatti, Iara Borin Selegatto, João Lucas Morette Giampietro, Vera Esteves Vagnozzi Rullo
OBJECTIVE: To evaluate the prevalence of scoliosis and the risk factors in elementary school students. METHODS: A cross-sectional study was carried out in 954 students in 2015. The instrument involved was a questionnaire on postural habits, socioeconomic conditions, and demographic factors. The anthropometric measurements, including height and weight, a visual inspection of the deformity of the vertebral column, the leveling of shoulders, and the Adam's test were obtained...
April 2017: Revista Paulista de Pediatria: Orgão Oficial da Sociedade de Pediatria de São Paulo
https://www.readbyqxmd.com/read/28972568/cfd-modeling-of-chamber-filling-in-a-micro-biosensor-for-protein-detection
#11
Meiirbek Islamov, Marzhan Sypabekova, Damira Kanayeva, Luis Rojas-Solórzano
Tuberculosis (TB) remains one of the main causes of human death around the globe. The mortality rate for patients infected with active TB goes beyond 50% when not diagnosed. Rapid and accurate diagnostics coupled with further prompt treatment of the disease is the cornerstone for controlling TB outbreaks. To reduce this burden, the existing gap between detection and treatment must be addressed, and dedicated diagnostic tools such as biosensors should be developed. A biosensor is a sensing micro-device that consists of a biological sensing element and a transducer part to produce signals in proportion to quantitative information about the binding event...
October 3, 2017: Biosensors
https://www.readbyqxmd.com/read/28972098/does-size-matter-concerning-impact-of-position-on-oxygenation-status-in-spontaneously-breathing-patients-with-unilateral-effusion
#12
Stylianos A Michaelides, Avgerinos-Romanos Michailidis, George D Bablekos, Antonis Analitis, Maria Michalatou, Nikolaos Koulouris
BACKGROUND: Inconsistent and contradictory findings have appeared in the literature concerning the impact of body position on oxygenation in pleural effusion. METHODS: We attempted to elucidate whether the size of the pleural effusion in patients with no parenchymal disease is the main determinant of posture-induced alterations in oxygenation parameters. We studied 62 spontaneously breathing patients aged 65.3±7.8 years (mean±SD), of whom 36 had large and massive-sized effusions (Group A) and 26 had small and moderate-sized effusions (Group B)...
September 28, 2017: Postgraduate Medical Journal
https://www.readbyqxmd.com/read/28968285/what-bed-size-does-a-patient-need-the-relationship-between-body-mass-index-and-space-required-to-turn-in-bed
#13
Neal Wiggermann, Kathryn Smith, Dee Kumpar
BACKGROUND: A bed that is too small to allow patients to turn from supine to side lying increases the difficulty of mobilizing patients, which can increase risk of musculoskeletal injury to caregivers, increase risk of pressure injuries to patients, and reduce patient comfort. Currently, no guidance is available for what patient sizes are accommodated by the standard 91cm (36 in.)-wide hospital bed, and no studies have evaluated the relationship between anthropometric attributes and space required to turn in bed...
September 29, 2017: Nursing Research
https://www.readbyqxmd.com/read/28964288/the-value-of-intraoperative-eabrs-in-auditory-brainstem-implantation
#14
Abbas Anwar, Alison Singleton, Yixin Fang, Binhuan Wang, William Shapiro, J Thomas Roland, Susan B Waltzman
OBJECTIVE: To compare the intraoperative electrically evoked auditory brainstem response (EABR) morphologies between neurofibromatosis II (NF2) adult auditory brainstem implant (ABI) recipients who had auditory percepts post-operatively and those who did not and between NF2 adult ABI recipients and non-NF2 pediatric ABI recipients. METHODS: This was a retrospective case series at a single tertiary academic referral center examining all ABI recipients from 1994 to 2016, which included 34 NF2 adults and 11 non-NF2 children...
October 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28962123/whole-genome-gene-expression-changes-and-hematological-effects-of-rikkunshito-in-patients-with-advanced-non-small-cell-lung-cancer-receiving-first-line-chemotherapy
#15
Yung-Che Chen, An-Shen Lin, Yu-Chiang Hung, Kuang-Den Chen, Ching-Yuan Wu, Chien-Hao Lie, Chang-Chun Hsiao, Chung-Jen Chen, Shih-Feng Liu, Wen-Feng Fang, Jen-Chieh Chang, Ting-Ya Wang, Yi-Hsi Wang, Yu-Hsiu Chung, Tung-Ying Chao, Sum-Yee Leung, Mao-Chang Su, Meng-Chih Lin
It has been demonstrated that the traditional Chinese medicine rikkunshito, ameliorates anorexia in several types of human cancer and attenuates lung injury by inhibiting neutrophil infiltration. The current study investigated the clinical and hematological effects of rikkunshito and its underlying mechanisms of action in the treatment of advanced non-small cell lung cancer (NSCLC). The Illumina microarray BeadChip was used to analyze the whole-genome expression profiles of peripheral blood mononuclear cells in 17 patients with advanced NSCLC...
September 2017: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/28959876/ultrasound-assisted-awake-epilepsy-surgery-for-type-iib-focal-cortical-dysplasia-in-eloquent-areas
#16
Matteo Martinoni, Gianluca Marucci, Stefano Meletti, Lilia Volpi, Roberto Michelucci, Marco Giulioni
INTRODUCTION: Focal cortical dysplasia (FCD) type IIb is a frequent cause of pharmacoresistant epilepsy. However, intraoperative identification of the pathological tissue still remains a challenge despite the use of neuronavigation, particularly when it lies in eloquent areas. CASE REPORT: We here report a case of intraoperative identification of a right frontal FCD type IIB through ultrasound assisted neuronavigation during awake surgery in a patient with drug-resistant epilepsy...
September 28, 2017: Journal of Neurosurgical Sciences
https://www.readbyqxmd.com/read/28959202/a-58-year-old-male-with-cognitive-deteriorations-caused-by-septum-pellucidum-cyst-a-case-report
#17
Li-Ming Chen, Ming-Xin Zhu, Yu-Fen Zhang, Se-Hui Ma, Yao Yi, Lie-Xin Xia, Yan Wu, Lei Pei
Dementia is known to be induced by vascular dementia and certain neurodegenerative diseases. The presenting features of disordered memory, intellect and personality often result in referral to a neurologist initially. Septum pellucidum cyst (SPC) is a rare clinical finding and defined as a cystic structure between the lateral ventricles. SPC induced memory disorder and dementia has been seldom reported in which the clinical features are atypical and can be misdiagnosed. The main difficulty is to establish a correlation between symptoms and the cyst...
2017: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/28950326/lung-transplantation-for-idiopathic-pulmonary-arterial-hypertension-on-intraoperative-and-postoperatively-prolonged-extracorporeal-membrane-oxygenation-provides-optimally-controlled-reperfusion-and-excellent-outcome
#18
Bernhard Moser, Peter Jaksch, Shahrokh Taghavi, Gabriella Muraközy, Georg Lang, Helmut Hager, Claus Krenn, Georg Roth, Peter Faybik, Andreas Bacher, Clemens Aigner, José R Matilla, Konrad Hoetzenecker, Philipp Hacker, Irene Lang, Walter Klepetko
OBJECTIVES: Lung transplantation for idiopathic pulmonary arterial hypertension has the highest reported postoperative mortality of all indications. Reasons lie in the complexity of treatment of these patients and the frequent occurrence of postoperative left ventricular failure. Transplantation on intraoperative extracorporeal membrane oxygenation support instead of cardiopulmonary bypass and even more the prolongation of extracorporeal membrane oxygenation into the postoperative period helps to overcome these problems...
July 27, 2017: European Journal of Cardio-thoracic Surgery
https://www.readbyqxmd.com/read/28949868/when-are-primary-care-physicians-untruthful-with-patients-a-qualitative-study
#19
Stephanie R Morain, Lisa I Iezzoni, Michelle M Mello, Elyse R Park, Joshua P Metlay, Gabrielle Horner, Eric G Campbell
BACKGROUND: Notwithstanding near-universal agreement on the theoretical importance of truthfulness, empirical research has documented gaps between ethical norms and physician behaviors. Although prior research has explored situations in which physicians may not be truthful with patients, it has focused on contexts within specialty practice. In this article, we report on a qualitative study of truthfulness in primary care. METHODS: We conducted a qualitative study during December 2014-March 2015 involving both focus groups and in-depth, semistructured interviews with 32 primary care physicians from the Boston, MA, and Baltimore, MD, metro areas in three specialties: internal medicine, family practice, and pediatrics...
January 2017: AJOB Empirical Bioethics
https://www.readbyqxmd.com/read/28941398/the-mechanisms-mediating-the-antiepileptic-effects-of-the-ketogenic-diet-and-potential-opportunities-for-improvement-with-metabolism-altering-drugs
#20
REVIEW
Neil A Youngson, Margaret J Morris, J William O Ballard
The ketogenic diet (KD) is increasingly being used to treat patients with intractable epilepsy. Despite decades of research, the reason for its success, when anticonvulsants have failed, is still not completely understood. There are, however, many candidate mechanisms which can be grouped into those that alter neuronal excitability at the synapse, and those that confer neuroprotection. The molecular underpinning of these mechanisms centres on the shift from glucose- to lipid-based energy generation that accompanies a high fat/low carbohydrate diet...
September 13, 2017: Seizure: the Journal of the British Epilepsy Association
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