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https://www.readbyqxmd.com/read/28641386/the-neurosteroid-pregnenolone-reverts-microtubule-derangement-induced-by-the-loss-of-a-functional-cdkl5-iqgap1-complex
#1
Isabella Barbiero, Diana Peroni, Marco Tramarin, Chetan Chandola, Laura Rusconi, Nicoletta Landsberger, Charlotte Kilstrup-Nielsen
CDKL5 is a protein kinase that plays a key role for neuronal functions as testified by the onset of complex neuronal dysfunctions in patients with genetic lesions in CDKL5. Here we identify a novel interactor of CDKL5, IQGAP1, a fundamental regulator of cell migration and polarity. In accordance with a functional role of this interaction, depletion of CDKL5 impairs cell migration and impedes the localization of IQGAP1 at the leading edge. Moreover, we demonstrate that CDKL5 is required for IQGAP1 to form a functional complex with its effectors, Rac1 and the microtubule plus end tracking protein CLIP170...
June 21, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28637103/-the-development-of-hepatocellular-carcinoma-in-non-alcoholic-fatty-liver-disease
#2
REVIEW
Oh Sang Kwon, Joon Hwan Kim, Ju Hyun Kim
Non-alcoholic fatty liver disease (NAFLD) may be one of the important causes of cryptogenic hepatocellular carcinoma (HCC). NAFLD-related HCCs (NAFLD-HCCs) have the following clinical features: high body mass index, deranged lipid profiles, diabetes mellitus, hypertension, and metabolic syndrome. Among them, obesity, diabetes mellitus, and high Fe contents in the liver are risk factors of developing HCC in patients with NAFLD. Inflammatory cytokines, adipokines, insulin like growth factor-I, and lipotoxicity are intermingled and may cross react with each other to develop HCC...
June 25, 2017: Korean Journal of Gastroenterology, Taehan Sohwagi Hakhoe Chi
https://www.readbyqxmd.com/read/28635357/hypertrophy-of-the-ligamentum-flavum-and-expression-of-transforming-growth-factor-beta
#3
Aierken Amudong, Aikeremujiang Muheremu, Tuerhongjiang Abudourexiti
Objective To explore the relationship between cellular apoptosis and hypertrophy of the ligamentum flavum in the lumbar region. Methods Thirty patients with lumbar spinal stenosis were evaluated. Hypertrophy of the ligamentum flavum was present in 15 patients and absent in 15. Hematoxylin-eosin staining and transforming growth factor beta (TGF-β) immunohistochemical testing were applied to compare these two groups. Results Derangement of fibrous alignment, fibrocartilage changes, and infiltration of inflammatory cells were observed in the patients with hypertrophy of the ligamentum flavum, while fibrous alignment was normal and few inflammatory cells were observed in patients without hypertrophy...
January 1, 2017: Journal of International Medical Research
https://www.readbyqxmd.com/read/28631351/intraoperative-acidosis-and-hypercapnia-during-thoracoscopic-repair-of-congenital-diaphragmatic-hernia-and-esophageal-atresia-tracheoesophageal-fistula
#4
Augusto Zani, Ruben Lamas-Pinheiro, Irene Paraboschi, Sebastian K King, Justyna Wolinska, Elke Zani-Ruttenstock, Simon Eaton, Agostino Pierro
BACKGROUND: Intraoperative hypercapnia and acidosis have been associated with thoracoscopic repair of both congenital diaphragmatic hernia and esophageal atresia/tracheoesophageal fistula. AIM: The aim of the present study was to investigate whether thoracoscopic repair of congenital diaphragmatic hernia or esophageal atresia/tracheoesophageal fistula was associated with acidosis and hypercapnia in a large group of neonates, and to analyze the effects of acidosis and hypercapnia on early postoperative outcomes...
June 20, 2017: Paediatric Anaesthesia
https://www.readbyqxmd.com/read/28628643/mis-targeting-of-the-mitochondrial-protein-lipt2-leads-to-apoptotic-cell-death
#5
Emanuele Bernardinelli, Roberta Costa, Giada Scantamburlo, Janet To, Rossana Morabito, Charity Nofziger, Carolina Doerrier, Gerhard Krumschnabel, Markus Paulmichl, Silvia Dossena
Lipoyl(Octanoyl) Transferase 2 (LIPT2) is a protein involved in the post-translational modification of key energy metabolism enzymes in humans. Defects of lipoic acid synthesis and transfer start to emerge as causes of fatal or severe early-onset disease. We show that the first 31 amino acids of the N-terminus of LIPT2 represent a mitochondrial targeting sequence and inhibition of the transit of LIPT2 to the mitochondrion results in apoptotic cell death associated with activation of the apoptotic volume decrease (AVD) current in normotonic conditions, as well as over-activation of the swelling-activated chloride current (IClswell), mitochondrial membrane potential collapse, caspase-3 cleavage and nuclear DNA fragmentation...
2017: PloS One
https://www.readbyqxmd.com/read/28628241/aberrant-expression-of-cd10-and-bcl6-in-mantle-cell-lymphoma
#6
Marco Pizzi, Claudio Agostinelli, Simona Righi, Anna Gazzola, Claudia Mannu, Francesca Galuppini, Matteo Fassan, Andrea Visentin, Francesco Piazza, Gianpietro C Semenzato, Massimo Rugge, Elena Sabattini
AIMS: Mantle cell lymphoma (MCL) is characterized by distinctive histologic and molecular features. Aberrant expression of BCL6 and CD10 has occasionally been reported, but the biological features of such cases are largely unknown. This study aimed to define the epidemiologic, histologic and cytogenetic characteristics of BCL6 and CD10-positive MCLs, also investigating possible biological features. METHODS AND RESULTS: 165 cases of cyclin D1 and t(11;14)(q13;q34) positive MCLs were studied for CD10 and BCL6 immunohistochemical expression which was documented in 26/165 (15...
June 19, 2017: Histopathology
https://www.readbyqxmd.com/read/28626385/urinary-tract-infection-associated-with-a-celiac-crisis-a-preceding-or-precipitating-event
#7
Abhinav Tiwari, Khola Qamar, Himani Sharma, Sameh Bashar Almadani
Celiac crisis is a rare life-threatening presentation of celiac disease that manifests as profuse diarrhea, hypoproteinemia, and severe metabolic disturbances. It may be precipitated by a general immune stimulus such as surgery, infection, or pregnancy. We report the case of a 26-year-old woman who presented with a celiac crisis, potentially triggered by a preceding urinary tract infection. Metabolic derangement is caused by malabsorption and profuse diarrhea, which can be unremitting unless the celiac crisis is recognized, and treatment with gluten restriction is initiated...
May 2017: Case Reports in Gastroenterology
https://www.readbyqxmd.com/read/28615894/unknown-patients-and-neurology-casualty-services-in-an-indian-metropolitan-city-a-decades-experience
#8
Achary Umesh, Guru S Gowda, Channaveerachari Naveen Kumar, Dwarakanath Srinivas, Bharath Rose Dawn, Ragasudha Botta, Ravi Yadav, Suresh Bada Math
OBJECTIVES: A large number of unknown patients without any personal, family, or other identification details represent a unique problem in the neurological emergency services of developing countries like India in a context of legal, humanitarian, and treatment issues. These patients pose a diagnostic and management challenge to treating physicians and staff. There are sparse data on these patients. The objective of this study was to know the clinical, socio-demographic, and investigational profile of "unknown" patients...
April 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/28614145/non-human-primate-rhesus-macaque-models-of-severe-pressure-targeted-hemorrhagic-and-poly-traumatic-hemorrhagic-shock
#9
Forest R Sheppard, Antoni R Macko, Jacob J Glaser, Philip J Vernon, Alexander J Burdette, R Madelaine Paredes, Craig A Koeller, Anthony E Pusateri, Douglas K Tadaki, Sylvain Cardin
BACKGROUND: We endeavored to develop clinically translatable non-human primate (NHP) models of severe poly-traumatic hemorrhagic shock. METHODS: NHPs were randomized into five pressure-targeted severe hemorrhagic shock (PTHS) ± additional injuries scenarios: 30-min PTHS (PTHS-30), 60-min PTHS (PTHS-60), PTHS-60 + soft tissue injury (PTHS-60+ST), PTHS-60+ST + femur fracture (PTHS-60+ST+FF) and decompensated PTHS+ST+FF (PTHS-D). Physiologic parameters were recorded and blood samples collected at five time points with animal observation through T = 24hrs...
June 13, 2017: Shock
https://www.readbyqxmd.com/read/28613955/sleep-duration-and-midlife-women-s-health
#10
A Pines
Sleep is mandatory for life and therefore any sleep deprivation or disruption might carry ill-health outcomes. The optimal night's sleep duration seems to be around 7 h, as too little sleep and too much sleep have been found to be associated with a variety of changes in well-being, physical and psychological parameters. This mini-review enlightens the potential health consequences of sleep disturbance relevant to menopause and midlife women's health. These include cardiovascular and metabolic derangements, cognitive impairment, osteoporosis, and cancer-related perspectives...
June 14, 2017: Climacteric: the Journal of the International Menopause Society
https://www.readbyqxmd.com/read/28612285/non-alcoholic-fatty-liver-disease-in-women-with-polycystic-ovary-syndrome-systematic-review-and-meta-analysis
#11
REVIEW
A L L Rocha, L C Faria, T C M Guimarães, G V Moreira, A L Cândido, C A Couto, F M Reis
PURPOSE: Non-alcoholic fatty liver disease (NAFLD) is an insidious pathologic condition that can manifest from simple steatosis to steatohepatitis (NASH) with potential progression to cirrhosis. Like the polycystic ovary syndrome (PCOS), NAFLD is associated with obesity, diabetes mellitus, insulin resistance and metabolic syndrome. PCOS women have an increased risk of NAFLD, but it is debatable which features of PCOS, either specific (androgen excess) or unspecific (metabolic derangements) affect the NAFLD risk...
June 13, 2017: Journal of Endocrinological Investigation
https://www.readbyqxmd.com/read/28611930/vestibular-derangement-and-motion-intolerance-in-vater-association
#12
Orit Samuel, Avi Shupak, Ayelet Eran, Dror Tal
VATER association is a nonrandom occurrence of congenital malformations: vertebral defects, anal atresia, tracheoesophageal fistula, renal defects, and radial bone anomalies. We report the case of a 19-year-old man with a childhood diagnosis of VATER association, who presented to the motion sickness clinic with severe seasickness. We discuss the clinical and laboratory diagnosis of vestibular pathophysiology, which was confirmed by MRI of lateral semicircular canal and vestibule dysplasia. We suggest the possibility of vestibular involvement as part of the developmental field defect associated with VATER syndrome, which hitherto has rarely been reported...
2017: Case Reports in Otolaryngology
https://www.readbyqxmd.com/read/28609125/minimum-2-year-outcomes-of-hip-arthroscopic-surgery-in-patients-with-acetabular-overcoverage-and-profunda-acetabulae-compared-with-matched-controls-with-normal-acetabular-coverage
#13
Sivashankar Chandrasekaran, Nader Darwish, Edwin O Chaharbakhshi, Carlos Suarez-Ahedo, Parth Lodhia, Benjamin G Domb
BACKGROUND: Advancements in instrumentation and techniques have extended the scope of hip arthroscopic surgery to treat complex osseous deformities that were previously best addressed with an open approach. Global pincer-type femoroacetabular impingement is an example of an abnormality requiring osseous correction with a technically challenging access point. PURPOSE: To report on the patterns of clinical presentation and intra-articular derangements, radiological associations, and minimum 2-year outcomes after hip arthroscopic surgery in patients with a lateral center edge angle (LCEA) >40° and profunda acetabulae in comparison with matched controls with normal acetabular coverage...
June 1, 2017: American Journal of Sports Medicine
https://www.readbyqxmd.com/read/28609017/clinical-aspects-of-magnesium-physiology-in-patients-on-dialysis
#14
REVIEW
Paraish S Misra, Sharon J Nessim
Magnesium balance is infrequently discussed in the dialysis population, and the clinical consequences of derangements in magnesium homeostasis are incompletely understood. There is an association between hypomagnesemia and adverse outcomes including increases in cardiovascular disease and mortality, while elevated magnesium levels have also been linked with complications such as osteomalacia. In this review, we discuss the features of magnesium physiology relevant to dialysis patients and provide an updated summary of the literature linking magnesium derangements with bone disease, cardiovascular disease, sudden cardiac death, and mortality...
June 13, 2017: Seminars in Dialysis
https://www.readbyqxmd.com/read/28608932/hormonal-changes-in-hemodialysis-patients-novel-risk-factors-for-mortality
#15
REVIEW
Ozkan Gungor, Ismail Kocyigit, Juan Jesus Carrero, Mahmut Ilker Yılmaz
Patients with end-stage renal disease undergoing dialysis commonly experience derangements in the hypothalamic-pituitary-gonadal axis together with alterations at the level of synthesis and clearance of many hormones. This hormonal imbalance, even if asymptomatic, has recently been associated with increased mortality in these patients. In this review, we summarize observational and mechanistic evidence linking hormonal alterations at the level of the thyroid and sex-hormone systems with this mortality risks...
June 13, 2017: Seminars in Dialysis
https://www.readbyqxmd.com/read/28608635/cardiac-and-metabolic-variables-in-obese-dogs
#16
M Tropf, O L Nelson, P M Lee, H Y Weng
BACKGROUND: The etiology of obesity-related cardiac dysfunction (ORCD) is linked to metabolic syndrome in people. Studies have indicated that obese dogs have components of metabolic syndrome, warranting evaluation for ORCD in obese dogs. OBJECTIVES: To evaluate cardiac structure and function and metabolic variables in obese dogs compared to ideal weight dogs. ANIMALS: Forty-six healthy, small-breed (<25 pounds), obese dogs (n = 29) compared to ideal weight dogs (n = 17)...
June 13, 2017: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/28608438/a-randomized-clinical-trial-investigating-the-efficacy-of-targeted-nutrition-as-adjunct-to-exercise-training-in-copd
#17
Coby van de Bool, Erica P A Rutten, Ardy van Helvoort, Frits M E Franssen, Emiel F M Wouters, Annemie M W J Schols
BACKGROUND: Evidence regarding the efficacy of nutritional supplementation to enhance exercise training responses in COPD patients with low muscle mass is limited. The objective was to study if nutritional supplementation targeting muscle derangements enhances outcome of exercise training in COPD patients with low muscle mass. METHODS: Eighty-one COPD patients with low muscle mass, admitted to out-patient pulmonary rehabilitation, randomly received oral nutritional supplementation, enriched with leucine, vitamin D, and omega-3 fatty acids (NUTRITION) or PLACEBO as adjunct to 4 months supervised high intensity exercise training...
June 12, 2017: Journal of Cachexia, Sarcopenia and Muscle
https://www.readbyqxmd.com/read/28602569/a-comparison-of-the-outcomes-of-four-minimally-invasive-treatment-methods-for-anterior-disc-displacement-of-the-temporomandibular-joint
#18
H Hosgor, B Bas, C Celenk
The purpose of this study was to compare the effectiveness of four non-surgical conservative treatment methods for temporomandibular disorders (TMD). The study group comprised 40 patients with unilateral TMD who fell into group II of the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD). Patients were divided into four groups according to the treatment method: splint therapy, arthrocentesis, medical therapy, and low-level laser therapy. Magnetic resonance imaging (MRI) was performed before treatment and at the 1-month follow-up...
June 8, 2017: International Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28602070/a-prognostic-evaluation-and-management-of-alcoholic-hepatitis
#19
Ramesh Rana, Sheng-Lan Wang, Jing Li, Lu Xia, Mei-Yi Song, Chang-Qing Yang
Alcoholic hepatitis is an acute and severe form of alcoholic liver disease associated with high morbidity and mortality of 30-50% worldwide, severity ranging from asymptomatic derangement of liver biochemistries to fulminant liver failure or death. Rapidly progressing jaundice and coagulopathy in prolonged excessive alcohol abusers with or without fever, malnutrition, and tender liver are the clinical hallmarks. The prognostic models (MELD, MDF, ABIC, GAHS, Lille's score) not only predict the short term mortality, but also guide the clinicians to choose appropriate specific therapy (corticosteroid or pentoxifylline) and as a stopping rule if there is no significant benefits of it...
June 9, 2017: Minerva Medica
https://www.readbyqxmd.com/read/28601537/trigeminocardiac-reflex-as-the-presentation-of-maxillary-sinus-adenocarcinoma
#20
Jason M Lunt, Ahmad Al-Taee, Rachna Rawal, Fred R Buckhold
The trigeminocardiac reflex is a brainstem reflex that manifests as sudden hemodynamic dysfunction including bradycardia, hypotension, hypopnea, and gastric hypermotility due to mechanical stimulation of the trigeminal nerve. Here, the trigeminocardiac reflex was part of the initial patient presentation that led to the diagnosis of maxillary adenocarcinoma. A 54-year-old male presented to the emergency department with a two-month history of right upper jaw pain. Vital signs included blood pressure of 68/48 mmHg, heart rate of 55, and oxygen saturation of 85%...
June 7, 2017: American Journal of Medicine
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