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https://www.readbyqxmd.com/read/29231014/-correlation-between-genetic-variants-and-polymorphism-of-caveolin-and-sudden-unexplained-death
#1
F Y Wu, X H Tang, L L Gai, X P Kong, B Hao, E W Huang, H Shi, L H Sheng, L Quan, S P Liu, B Luo
OBJECTIVES: To explore the genetic variation sites of caveolin (CAV) and their correlation with sudden unexplained death (SUD). METHODS: The blood samples were collected from SUD group (71 cases), coronary artery disease (CAD) group (62 cases) and control group (60 cases), respectively. The genome DNA were extracted and sequencing was performed directly by amplifying gene coding region and exon-intron splicing region of CAV1 and CAV3 using PCR...
April 2017: Fa Yi Xue za Zhi
https://www.readbyqxmd.com/read/29231011/-research-progress-of-the-relationship-between-sunds-and-osahs
#2
REVIEW
Y D Wu, L Y Zhang, J D Cheng
Sudden unexplained nocturnal death syndrome (SUNDS) is always a difficulty in forensic medicine researches. Although the development of molecular genetics promotes the etiologic study of SUNDS, the pathogenesis of most such cases is still unclear. Sleep apnea syndrome (SAS) is one of the common forms of sleep disorders, and obstructive sleep apnea hypopnea syndrome (OSAHS) is the most common. In recent years, some domestic and international researches show that OSAHS is related to the development of cardiovascular disease, which may cause cardiac arrhythmia, even sudden death...
February 2017: Fa Yi Xue za Zhi
https://www.readbyqxmd.com/read/29230527/lefty2-inhibits-endometrial-receptivity-by-downregulating-orai1-expression-and-store-operated-ca2-entry
#3
Madhuri S Salker, Yogesh Singh, Ruban R Peter Durairaj, Jing Yan, Md Alauddin, Ni Zeng, Jennifer H Steel, Shaqiu Zhang, Jaya Nautiyal, Zoe Webster, Sara Y Brucker, Diethelm Wallwiener, B Anne Croy, Jan J Brosens, Florian Lang
Early embryo development and endometrial differentiation are initially independent processes, and synchronization, imposed by a limited window of implantation, is critical for reproductive success. A putative negative regulator of endometrial receptivity is LEFTY2, a member of the transforming growth factor (TGF)-β family. LEFTY2 is highly expressed in decidualizing human endometrial stromal cells (HESCs) during the late luteal phase of the menstrual cycle, coinciding with the closure of the window of implantation...
December 11, 2017: Journal of Molecular Medicine: Official Organ of the "Gesellschaft Deutscher Naturforscher und Ärzte"
https://www.readbyqxmd.com/read/29230432/case-report-of-an-adolescent-male-with-unexplained-pancytopenia-gata2-associated-bone-marrow-failure-and-genetic-testing
#4
Lauren Azevedo, Allison Jay, Adonis Lorenzana, Sioban Keel, Roshini S Abraham, Marshall Horwitz, Michelle van Hee, Hadi Sawaf
No abstract text is available yet for this article.
2017: Global Pediatric Health
https://www.readbyqxmd.com/read/29229446/clinical-utility-of-decorin-in-follicular-fluid-as-a-biomarker-of-oocyte-potential
#5
Yuki Sawada, Takeshi Sato, Chieko Saito, Fumiko Ozawa, Yasuhiko Ozaki, Mayumi Sugiura-Ogasawara
This study investigated the concentration of decorin (DCN) in mature follicular fluid and the existence in the granulosa cells. It also investigated whether DCN is useful as a biomarker for outcomes of assisted reproductive technology (ART). A retrospective cohort study was performed involving 130 oocytes of 88 patients treated with ART because of unexplained infertility. The concentration of DCN in the follicular fluid (F-DCN) was 39.26ng/ml (median value); it was higher than that in serum. F-DCN of the oocytes fertilized by intracytoplasmic sperm injection (ICSI) was significantly lower than that of oocytes that were not fertilized (33...
December 8, 2017: Reproductive Biology
https://www.readbyqxmd.com/read/29228515/aging-and-cardiometabolic-risk-in-european-hems-pilots-an-assessment-of-occupational-old-age-limits-as-a-regulatory-risk-management-strategy
#6
Hans Bauer, Dennis Nowak, Britta Herbig
Old-age limits are imposed in some occupations in an effort to ensure public safety. In aviation, the "Age 60 Rule" limits permissible flight operations conducted by pilots aged 60 and over. Using a retrospective cohort design, we assessed this rule's validity by comparing age-related change rates of cardiometabolic incapacitation risk markers in European helicopter emergency medical service (HEMS) pilots near age 60 with those in younger pilots. Specifically, individual clinical, laboratory, and electrocardiogram (ECG)-based risk markers and an overall cardiovascular event risk score were determined from aeromedical examination records of 66 German, Austrian, Polish, and Czech HEMS pilots (average follow-up 8...
December 11, 2017: Risk Analysis: An Official Publication of the Society for Risk Analysis
https://www.readbyqxmd.com/read/29228435/review-of-recent-advances-in-the-management-of-hypertrophic-cardiomyopathy
#7
Y Cao, P-Y Zhang
Hypertrophic cardiomyopathy (HCM) is a complex but common monogenic cardiovascular disorder characterized by unexplained non dilated left ventricular (LV) thickening in the absence of another cardiac or systemic disease. The condition is associated with sudden and unexpected death in young individuals including trained athletes. HCM represents a genetic disorder caused by mutations in genes encoding sarcomeric proteins of the cardiac myocyte. This review article discusses the genetics behind HCM, its clinical presentation, and diagnosis and the present-day pharmacological management of HCM...
November 2017: European Review for Medical and Pharmacological Sciences
https://www.readbyqxmd.com/read/29228183/plasma-oxysterols-biomarkers-for-diagnosis-and-treatment-in-spastic-paraplegia-type-5
#8
Cecilia Marelli, Foudil Lamari, Dominique Rainteau, Alexandre Lafourcade, Guillaume Banneau, Lydie Humbert, Marie-Lorraine Monin, Elodie Petit, Rabab Debs, Giovanni Castelnovo, Elisabeth Ollagnon, Julie Lavie, Julie Pilliod, Isabelle Coupry, Patrick J Babin, Claire Guissart, Imen Benyounes, Urielle Ullmann, Gaetan Lesca, Christel Thauvin-Robinet, Pierre Labauge, Sylvie Odent, Claire Ewenczyk, Claude Wolf, Giovanni Stevanin, David Hajage, Alexandra Durr, Cyril Goizet, Fanny Mochel
The hereditary spastic paraplegias are an expanding and heterogeneous group of disorders characterized by spasticity in the lower limbs. Plasma biomarkers are needed to guide the genetic testing of spastic paraplegia. Spastic paraplegia type 5 (SPG5) is an autosomal recessive spastic paraplegia due to mutations in CYP7B1, which encodes a cytochrome P450 7α-hydroxylase implicated in cholesterol and bile acids metabolism. We developed a method based on ultra-performance liquid chromatography electrospray tandem mass spectrometry to validate two plasma 25-hydroxycholesterol (25-OHC) and 27-hydroxycholesterol (27-OHC) as diagnostic biomarkers in a cohort of 21 patients with SPG5...
December 8, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29223347/-a-predictive-bacterial-infection-score-according-to-eosinophil-level-an-observational-study
#9
B Bouldoires, H Gil, T Soumagne, S Humbert, N Meaux Ruault, N Magy Bertrand
INTRODUCTION: Several studies have shown that eosinopenia less than 0.04g/L is a marker of bacterial infection in the presence of unexplained inflammatory syndrome. The aim of our study was to test this hypothesis and to propose a predictive score for bacterial infection (score CIBLE, C reactive protein, bacterial infections, levels of leucocytes and eosinophils). PATIENTS AND METHODS: This was a single-center observational study of patients admitted to an internal medicine department in the year 2015 and presenting with an inflammatory biological syndrome...
December 6, 2017: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/29222988/medically-unexplained-physical-symptoms-in-patients-attending-a-medical-outpatient-clinic-in-a-tertiary-hospital-in-north-india
#10
Mohit Sharma, Shubh Mohan Singh, Ajit Avasthi, Subhash C Varma, Aman Sharma, Vikas Suri
OBJECTIVE: Medically unexplained physical symptoms (MUPS) are commonly seen across health care settings. Earlier studies have focussed on prevalence, cost-utilization and burden. Data from India is scarce. Patients with persistent MUPS have more impairment and psychological distress. This study was designed to assess psychological morbidity, health anxiety (HA), somatic symptom load, disability, quality of life (QOL) in patients with persistent MUPS presenting to a general medical outpatient service and compare it with patients with medically explained physical symptoms (MEPS)...
December 2, 2017: Asian Journal of Psychiatry
https://www.readbyqxmd.com/read/29222524/andean-mountain-building-and-magmatic-arc-migration-driven-by-subduction-induced-whole-mantle-flow
#11
W P Schellart
Subduction along the western margin of South America has been active since the Jurassic, but Andean orogeny started in the middle Cretaceous and was preceded by backarc extension in the Jurassic-Early Cretaceous. The timing and sequence of these events has remained unexplained. Here I present a four-dimensional buoyancy-driven whole-mantle subduction model implying that the ~200 Myr geological evolution can be attributed to sinking of a wide slab into a layered mantle, where upper-mantle wide-slab subduction causes backarc extension, while whole-mantle (upper+lower) wide-slab subduction drives Andean orogeny...
December 8, 2017: Nature Communications
https://www.readbyqxmd.com/read/29222096/aerobic-transformation-of-2-4-dinitrotoluene-by-escherichia-coli-and-its-implications-for-the-detection-of-trace-explosives
#12
Benjamin Shemer, Sharon Yagur-Kroll, Carina Hazan, Shimshon Belkin
DNT (2,4-dinitrotoluene), a volatile impurity in military grade TNT-based explosives, is a potential tracer for the detection of buried landmines and other explosive devices. We have previously described an Escherichia coli bioreporter strain engineered to detect traces of DNT, and have demonstrated that the yqjF gene promoter, the sensing element of this bioreporter, is induced not by DNT but by at least one of its transformation products. In the present study we have characterized the initial stages of DNT biotransformation in E...
December 8, 2017: Applied and Environmental Microbiology
https://www.readbyqxmd.com/read/29220823/patterns-of-progressive-atrophy-vary-with-age-in-alzheimer-s-disease-patients
#13
Cassidy M Fiford, Gerard R Ridgway, David M Cash, Marc Modat, Jennifer Nicholas, Emily N Manning, Ian B Malone, Geert Jan Biessels, Sebastien Ourselin, Owen T Carmichael, M Jorge Cardoso, Josephine Barnes
Age is not only the greatest risk factor for Alzheimer's disease (AD) but also a key modifier of disease presentation and progression. Here, we investigate how longitudinal atrophy patterns vary with age in mild cognitive impairment (MCI) and AD. Data comprised serial longitudinal 1.5-T magnetic resonance imaging scans from 153 AD, 339 MCI, and 191 control subjects. Voxel-wise maps of longitudinal volume change were obtained and aligned across subjects. Local volume change was then modeled in terms of diagnostic group and an interaction between group and age, adjusted for total intracranial volume, white-matter hyperintensity volume, and apolipoprotein E genotype...
November 14, 2017: Neurobiology of Aging
https://www.readbyqxmd.com/read/29220178/equilibrium-between-a-droplet-and-surrounding-vapor-a-discussion-of-finite-size-effects
#14
Andreas Troester, Fabian Schmitz, Peter Virnau, Kurt Binder
In a theoretical description of homogeneous nucleation one frequently assumes an ``equilibrium'' coexistence of a liquid droplet with surrounding vapor of a density exceeding that of a saturated vapor at bulk vapor-liquid two-phase coexistence. Thereby one ignores the caveat that in the thermodynamic limit, for which the vapor would be called supersaturated, such states will at best be metastable with finite lifetime, and thus not be well-defined within equilibrium statistical mechanics. In contrast, in a system of finite volume stable equilibrium coexistence of droplet and supersaturated vapor at constant total density is perfectly possible, and numerical analysis of equilibrium free energies of finite systems allows to obtain physically relevant results...
December 8, 2017: Journal of Physical Chemistry. B
https://www.readbyqxmd.com/read/29219467/interaction-heterogeneity-can-favorably-impact-colloidal-crystal-nucleation
#15
Ian C Jenkins, John C Crocker, Talid Sinno
Colloidal particles with short-ranged attractions, e.g., micron-scale spheres functionalized with single-stranded DNA oligomers, are susceptible to becoming trapped in disordered configurations even when a crystalline arrangement is the ground state. Moreover, for reasons that are not well understood, seemingly minor variations in the particle formulation can lead to dramatic changes in the crystallization outcome. We demonstrate, using a combination of equilibrium and nonequilibrium computer simulations, that interaction heterogeneity-variations in the energetic interactions among different particle pairs in the population-may favorably impact crystal nucleation...
October 27, 2017: Physical Review Letters
https://www.readbyqxmd.com/read/29218437/d-lactic-acidosis-in-humans-systematic-literature-review
#16
Davide G A M Bianchetti, Giacomo S Amelio, Sebastiano A G Lava, Mario G Bianchetti, Giacomo D Simonetti, Carlo Agostoni, Emilio F Fossali, Gregorio P Milani
BACKGROUND: D-lactic acidosis is an uncommon and challenging form of metabolic acidosis that may develop in short bowel syndrome. It has been documented exclusively in case reports and small case series. METHODS: We performed a review of the literature in the National Library of Medicine and Excerpta Medica databases. RESULTS: We identified 84 original reports published between 1977 and 2017. D-lactic acidosis was observed in 98 individuals ranging in age from 7 months to 86 years with short bowel syndrome...
December 7, 2017: Pediatric Nephrology: Journal of the International Pediatric Nephrology Association
https://www.readbyqxmd.com/read/29218257/pulmonary-tuberculosis-versus-recurrent-chemotherapy-induced-pneumonitis-a-clinical-dilemma
#17
Gulrayz Ahmed, Muhammad W Saif
Chemotherapy-induced lung toxicity can affect pulmonary parenchyma, pleura, airways, pulmonary vascular system, mediastinum or the neuromuscular system that is responsible for respiration. Chemotherapy-induced pulmonary toxicity is a diagnosis of exclusion. When the patients with malignancies develop pulmonary toxicity such as pneumonitis and distinguishing it from alternative diseases such as infectious, thrombotic, cardiac, malignant or exacerbation of chronic lung conditions can be difficult. Moreover, such patients are often immunosuppressed, physically stressed from the underlying disease and the cancer treatment and hence, more susceptible to usual and unusual or opportunistic infections...
October 4, 2017: Curēus
https://www.readbyqxmd.com/read/29216800/vascular-ehlers-danlos-syndrome-with-a-novel-missense-col3a1-mutation-present-with-pulmonary-complications-and-iliac-arterial-dissection
#18
Guangchao Gu, Hang Yang, Lijia Cui, Yuanyuan Fu, Fangda Li, Zhou Zhou, Yuehong Zheng
Vascular Ehlers-Danlos syndrome (vEDS) is a life-threatening connective tissue disorder due to its high tendency of arterial and organ rupture. Pulmonary complications in vEDS are rare. We present a young male patient with vEDS who developed severe pulmonary complications and severe rupture of the iliac artery at different stages of his life. Vascular Ehlers-Danlos syndrome was diagnosed based on clinical manifestations and confirmed by the identification of COL3A1 gene mutation. Due to high bleeding tendency and weak cardiopulmonary capacity, conservative treatment was taken for him...
January 1, 2017: Vascular and Endovascular Surgery
https://www.readbyqxmd.com/read/29216287/transcriptomic-profiles-in-peripheral-blood-between-women-with-unexplained-recurrent-implantation-failure-and-recurrent-miscarriage-and-the-correlation-with-endometrium-a-pilot-study
#19
Jin Huang, Nana Jin, Hao Qin, Xiao Shi, Yingyu Liu, Wingching Cheung, Chi Chiu Wang, Ting Fung Chan, Tin Chiu Li
AIM: To study the transcriptome profiles in the blood of recurrent implantation failure (RIF), recurrent miscarriage (RM) and fertile women during the window of implantation, and further analysis the correlation of transcriptome profiles between blood and endometrium. METHODS: This is an observational prospective study. In total 9 subjects were recruited, 3 RIF, 3 RM, and 3 controls. Paired samples (endometrium and peripheral blood) from the same subjects were precisely timed on the 7th days after luteal hormone surge (LH+7)...
2017: PloS One
https://www.readbyqxmd.com/read/29215824/pulmonary-histoplasmosis-identified-by-video-assisted-thoracic-surgery-vats-biopsy-a-case-report
#20
Ye Jin Lee, Hye Rin Kang, Jin Hwa Song, Sooim Sin, Sang Min Lee
Histoplasmosis is a common endemic mycosis in North, Central, and South America, but Korea is not known as an endemic area. We treated an immunocompetent Korean patient who had histoplasmosis. A 65-year-old Korean man presented with multiple pulmonary clumps of tiny nodules in the both lungs. He had been diagnosed 40 years earlier with pulmonary tuberculosis (TB) and a fungus ball had been diagnosed 4 years earlier. He denied any history of overseas travel. The patient visited our hospital with dyspnea, blood-tinged sputum, and weight loss, which had appeared 2 months earlier...
January 8, 2018: Journal of Korean Medical Science
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