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Dennys syndrome

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https://www.readbyqxmd.com/read/29780943/longitudinal-ophthalmic-findings-in-a-child-with-helsmoortel-van-der-aa-syndrome
#1
Michael J Gale, Hope E Titus, Gareth A Harman, Talal Alabduljalil, Anna Dennis, Jenny L Wilson, David M Koeller, Erika Finanger, Peter A Blasco, Pei-Wen Chiang, Daniel J Karr, Paul Yang
Purpose: We present the first detailed ophthalmic description of a child with Helsmoortel-Van der Aa Syndrome (HVDAS), including longitudinal follow-up and analysis. Observations: After extensive workup, a young child with poor visual behavior, hypotonic cerebral palsy, intellectual disability, and global developmental delay was found to have a heterozygous de novo mutation in the ADNP gene and diagnosed with HVDAS. Ophthalmic findings were remarkable for progressive nystagmus, macular pigment mottling, mild foveal hypoplasia with abnormal macular laminations, persistent rod dysfunction with electronegative waveform, and progressive cone degeneration...
June 2018: American Journal of Ophthalmology Case Reports
https://www.readbyqxmd.com/read/29773874/mutations-in-six-nephrosis-genes-delineate-a-pathogenic-pathway-amenable-to-treatment
#2
Shazia Ashraf, Hiroki Kudo, Jia Rao, Atsuo Kikuchi, Eugen Widmeier, Jennifer A Lawson, Weizhen Tan, Tobias Hermle, Jillian K Warejko, Shirlee Shril, Merlin Airik, Tilman Jobst-Schwan, Svjetlana Lovric, Daniela A Braun, Heon Yung Gee, David Schapiro, Amar J Majmundar, Carolin E Sadowski, Werner L Pabst, Ankana Daga, Amelie T van der Ven, Johanna M Schmidt, Boon Chuan Low, Anjali Bansal Gupta, Brajendra K Tripathi, Jenny Wong, Kirk Campbell, Kay Metcalfe, Denny Schanze, Tetsuya Niihori, Hiroshi Kaito, Kandai Nozu, Hiroyasu Tsukaguchi, Ryojiro Tanaka, Kiyoshi Hamahira, Yasuko Kobayashi, Takumi Takizawa, Ryo Funayama, Keiko Nakayama, Yoko Aoki, Naonori Kumagai, Kazumoto Iijima, Henry Fehrenbach, Jameela A Kari, Sherif El Desoky, Sawsan Jalalah, Radovan Bogdanovic, Nataša Stajić, Hildegard Zappel, Assel Rakhmetova, Sharon-Rose Wassmer, Therese Jungraithmayr, Juergen Strehlau, Aravind Selvin Kumar, Arvind Bagga, Neveen A Soliman, Shrikant M Mane, Lewis Kaufman, Douglas R Lowy, Mohamad A Jairajpuri, Richard P Lifton, York Pei, Martin Zenker, Shigeo Kure, Friedhelm Hildebrandt
No efficient treatment exists for nephrotic syndrome (NS), a frequent cause of chronic kidney disease. Here we show mutations in six different genes (MAGI2, TNS2, DLC1, CDK20, ITSN1, ITSN2) as causing NS in 17 families with partially treatment-sensitive NS (pTSNS). These proteins interact and we delineate their roles in Rho-like small GTPase (RLSG) activity, and demonstrate deficiency for mutants of pTSNS patients. We find that CDK20 regulates DLC1. Knockdown of MAGI2, DLC1, or CDK20 in cultured podocytes reduces migration rate...
May 17, 2018: Nature Communications
https://www.readbyqxmd.com/read/29754125/projected-real-world-effectiveness-of-using-aggressive-low-density-lipoprotein-cholesterol-targets-among-elderly-statin-users-following-acute-coronary-syndromes-in-canada
#3
David A Alter, Jack V Tu, Maria Koh, Cynthia A Jackevicius, Peter C Austin, Mohammad R Rezai, R Sacha Bhatia, Sharon Johnston, Jacob A Udell, Dennis T Ko
BACKGROUND: The extent to which outcome benefits may be achieved through the implementation of aggressive low-density lipoprotein (LDL) cholesterol targets in real world settings remains unknown, especially among elderly statin users following acute coronary syndromes. METHODS AND RESULTS: A population-based cohort study consisting of 19 544 post-acute coronary syndrome statin-users aged ≥66 years between January 1, 2017 and March 31, 2014 was used to project the number of adverse outcome events (acute myocardial infarction or death from any cause) that could be prevented if all post-acute coronary syndrome elderly statin users were treated to 1 of 2 LDL cholesterol target levels (≤50 and ≤70 mg/dL)...
May 12, 2018: Journal of the American Heart Association
https://www.readbyqxmd.com/read/29747670/the-efficacy-and-safety-of-jiedu-tongluo-granules-for-treating-post-stroke-depression-with-qi-deficiency-and-blood-stasis-syndrome-study-protocol-for-a-randomized-controlled-trial
#4
Ai-Mei Zhao, Wen-Ran Qiu, Li-Jun Mao, Jun-Guo Ren, Li Xu, Ming-Jiang Yao, Kellie Bilinksi, Dennis Chang, Jian-Xun Liu
BACKGROUND: Post-stroke depression (PSD) is the most common psychiatric complication after a stroke. The most frequently used antidepressants are selective serotonin receptor inhibitors (SSRIs) and serotonin and norepinephrine reuptake inhibitors (SNRIs), however, these exhibit a series of side effects. Traditional Chinese medicine has been used to treat PSD with few side effects. The aim of this study is to evaluate the efficacy and safety of Jiedu Tongluo granules for treating PSD with qi deficiency and blood stasis syndrome...
May 10, 2018: Trials
https://www.readbyqxmd.com/read/29739430/relax-restricted-versus-liberal-positive-end-expiratory-pressure-in-patients-without-ards-protocol-for-a-randomized-controlled-trial
#5
Anna Geke Algera, Luigi Pisani, Dennis C J Bergmans, Sylvia den Boer, Corianne A J de Borgie, Frank H Bosch, Karina Bruin, Thomas G Cherpanath, Rogier M Determann, Arjen M Dondorp, Dave A Dongelmans, Henrik Endeman, Jasper J Haringman, Janneke Horn, Nicole P Juffermans, David M van Meenen, Nardo J van der Meer, Maruschka P Merkus, Hazra S Moeniralam, Ilse Purmer, Pieter Roel Tuinman, Mathilde Slabbekoorn, Peter E Spronk, Alexander P J Vlaar, Marcelo Gama de Abreu, Paolo Pelosi, Ary Serpa Neto, Marcus J Schultz, Frederique Paulus
BACKGROUND: Evidence for benefit of high positive end-expiratory pressure (PEEP) is largely lacking for invasively ventilated, critically ill patients with uninjured lungs. We hypothesize that ventilation with low PEEP is noninferior to ventilation with high PEEP with regard to the number of ventilator-free days and being alive at day 28 in this population.  METHODS/DESIGN: The "REstricted versus Liberal positive end-expiratory pressure in patients without ARDS" trial (RELAx) is a national, multicenter, randomized controlled, noninferiority trial in adult intensive care unit (ICU) patients with uninjured lungs who are expected not to be extubated within 24 h...
May 9, 2018: Trials
https://www.readbyqxmd.com/read/29732422/developments-in-the-treatment-of-chiari-type-1-malformations-over-the-past-decade
#6
Peter G Passias, Alexandra Pyne, Samantha R Horn, Gregory W Poorman, Muhammad B Janjua, Dennis Vasquez-Montes, Cole A Bortz, Frank A Segreto, Nicholas J Frangella, Matthew Y Siow, Akhila Sure, Peter L Zhou, John Y Moon, Bassel G Diebo, Shaleen N Vira
Background: Chiari malformations type 1 (CM-1), a developmental anomaly of the posterior fossa, usually presents in adolescence or early adulthood. There are few studies on the national incidence of CM-1, taking into account outcomes based on concurrent diagnoses. To quantify trends in treatment and associated diagnoses, as retrospective review of the Kid's Inpatient Database (KID) from 2003-2012 was conducted. Methods: Patients aged 0-20 with primary diagnosis of CM-1 in the KID database were identified...
March 2018: Journal of Spine Surgery (Hong Kong)
https://www.readbyqxmd.com/read/29729238/simmering-below-the-surface-sweet-s-syndrome-with-multiple-myeloma-%C3%A2-%C3%A2-%C3%A2-%C3%A2-%C3%A2-%C3%A2-%C3%A2
#7
Eric K Singhi, Benjamin C Li, Joshua C Denny
No abstract text is available yet for this article.
May 2, 2018: American Journal of Medicine
https://www.readbyqxmd.com/read/29728794/correction-to-circulating-t-cells-of-patients-with-nijmegen-breakage-syndrome-show-signs-of-senescence
#8
Ruud W J Meijers, Katarzyna Dzierzanowska-Fangrat, Magdalena Zborowska, Iwona Solarska, Dennis Tielemans, Bob A C van Turnhout, Gertjan Driessen, Mirjam van der Burg, Jacques J M van Dongen, Krystyna H Chrzanowska, Anton W Langerak
The original version of the article, "Circulating T Cells of Patients with Nijmegen Breakage Syndrome Show Signs of Senescence" incorrectly listed the affiliation of the fourth author, Iwona Solarska. The correct affiliation is "Molecular Biology Laboratory, Institute of Hematology and Transfusion Medicine.
April 23, 2018: Journal of Clinical Immunology
https://www.readbyqxmd.com/read/29703646/striatal-dopamine-release-and-impaired-reinforcement-learning-in-adults-with-22q11-2-deletion-syndrome
#9
Esther D A van Duin, Zuzana Kasanova, Dennis Hernaus, Jenny Ceccarini, Alexander Heinzel, Felix Mottaghy, Siamak Mohammadkhani-Shali, Oliver Winz, Michael Frank, Merrit C H Beck, Jan Booij, Inez Myin-Germeys, Thérèse van Amelsvoort
22q11.2 deletion syndrome (22q11DS) is a genetic disorder caused by a microdeletion on chromosome 22q11.2 and associated with an increased risk for developing psychosis. The catechol-O-methyltransferase (COMT) gene is located in the deleted region and involved in dopamine (DA) breakdown. Impaired reinforcement learning (RL) is a recurrent feature in psychosis and thought to be related to abnormal striatal DA function. This study aims to examine RL and the potential association with striatal DA-ergic neuromodulation in 22q11DS...
April 24, 2018: European Neuropsychopharmacology: the Journal of the European College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/29679771/extracorporeal-photopheresis-improves-survival-in-hematopoietic-cell-transplant-patients-with-bronchiolitis-obliterans-syndrome-without-significantly-impacting-measured-pulmonary-functions
#10
Mehrdad Hefazi, Kimberly J Langer, Nandita Khera, Jill Adamski, Vivek Roy, Jeffrey L Winters, Dennis A Gastineau, Eapen K Jacob, Justin D Kreuter, Manish J Gandhi, William J Hogan, Mark R Litzow, Shahrukh K Hashmi, Hemang Yadav, Vivek N Iyer, J P Scott, Mark E Wylam, Rodrigo Cartin-Ceba, Mrinal M Patnaik
We carried out the first matched retrospective cohort study aimed at studying the safety and efficacy of extracorporeal photopheresis (ECP) for bronchiolitis obliterans syndrome (BOS) following allogeneic hematopoietic cell transplantation (HCT). Medical records of 1325 consecutive adult patients who underwent HCT between 2005 and 2015 were reviewed. Seventy-four patients (median age, 51 years) with a diagnosis of BOS were included in the study. After propensity-score matching for BOS severity, 26 patients who underwent ≥3 months of ECP were matched to 26 non-ECP-treated patients, who were assigned an index date corresponding to the ECP start date for their matched pairs...
April 18, 2018: Biology of Blood and Marrow Transplantation
https://www.readbyqxmd.com/read/29662320/omalizumab-for-severe-asthma-toward-personalized-treatment-based-on-biomarker-profile-and-clinical-history
#11
REVIEW
Farnaz Tabatabaian, Dennis K Ledford
Asthma is a heterogeneous syndrome with numerous underlining molecular and inflammatory mechanisms contributing to the wide spectrum of clinical phenotypes. Multiple therapies targeting severe asthma with type 2 (T2) high inflammation are or soon will be available. T2 high inflammation is defined as inflammation associated with atopy or eosinophilia or an increase in cytokines associated with T-helper 2 lymphocytes. Omalizumab is a humanized anti-IgE monoclonal antibody and the first biologic therapy approved for moderate-severe allergic asthma...
2018: Journal of Asthma and Allergy
https://www.readbyqxmd.com/read/29650526/flushing-disorders-associated-with-gastrointestinal-symptoms-part-2-systemic-miscellaneous-conditions
#12
REVIEW
Vaibhav Rastogi, Devina Singh, Joseph J Mazza, Dennis Yang, Dipendra Parajuli, Steven H Yale
Flushing disorders with involvement of the gastrointestinal tract represent a heterogeneous group of conditions. In part 1 discussed were neuroendocrine tumors (NET), mast cell activation disorders (MCAD), and hyperbasophilia. In this section are covered the remaining flushing disorders which primarily or secondarily involves the gastrointestinal tract. This includes dumping syndrome, mesenteric traction syndrome, rosacea, hyperthyroidism and thyroid storm, anaphylaxis, panic disorders, paroxysmal extreme pain disorder, and food, alcohol and medications...
April 12, 2018: Clinical Medicine & Research
https://www.readbyqxmd.com/read/29650525/flushing-disorders-associated-with-gastrointestinal-symptoms-part-1-neuroendocrine-tumors-mast-cell-disorders-and-hyperbasophila
#13
REVIEW
Vaibhav Rastogi, Devina Singh, Joseph J Mazza, Dennis Yang, Dipendra Parajuli, Steven H Yale
Flushing is the subjective sensation of warmth accompanied by visible cutaneous erythema occurring throughout the body with a predilection for the face, neck, pinnae, and upper trunk where the skin is thinnest and cutaneous vessels are superficially located and in greatest numbers. Flushing can be present in either a wet or dry form depending upon whether neural-mediated mechanisms are involved. Activation of the sympathetic nervous system results in wet flushing, accompanied by diaphoresis, due to concomitant stimulation of eccrine sweat glands...
April 12, 2018: Clinical Medicine & Research
https://www.readbyqxmd.com/read/29644299/surgical-management-of-compartment-syndrome-and-the-gradual-closure-of-a-fasciotomy-wound-using-a-dermaclose-device
#14
Gregory C Manista, Andrew Dennis, Matthew Kaminsky
The immediate recognition and timely response of compartment syndrome due to damage caused by penetrating trauma has immense clinical outcomes. The following is a case report of a complicated fasciotomy in a 33-year-old male who suffered a gunshot wound to his left lower extremity and the surgical management leading to adequate limb salvage and recovery.
April 2018: Trauma Case Reports
https://www.readbyqxmd.com/read/29620693/longer-term-effectiveness-and-tolerability-of-adjunctive-open-lurasidone-in-patients-with-bipolar-disorder
#15
Shefali Miller, Dennis Do, Anda Gershon, Po W Wang, Farnaz Hooshmand, Lauren S Chang, Terence A Ketter
PURPOSE: To retrospectively assess lurasidone effectiveness/efficacy/tolerability in bipolar disorder (BD) patients. METHODS: Outpatients assessed with Systematic Treatment Enhancement Program for BD Affective Disorders Evaluation received naturalistically administered (primarily adjunctive) open lurasidone while monitored at visits with the Systematic Treatment Enhancement Program for BD Clinical Monitoring Form. RESULTS: Sixty-one patients (32 type I, 26 type II, 3 type not otherwise specified; mean ± SD age, 45...
June 2018: Journal of Clinical Psychopharmacology
https://www.readbyqxmd.com/read/29617871/clinical-and-laboratory-predictors-of-shiga-toxin-producing-escherichia-coli-infection-in-children-with-bloody-diarrhea
#16
Ryan S McKee, Phillip I Tarr, Dennis J Dietzen, Rachit Chawla, David Schnadower
Objectives: Children with acute bloody diarrhea are at risk of being infected with Shiga toxin-producing Escherichia coli (STEC) and of progression to hemolytic uremic syndrome. Our objective was to identify clinical and laboratory factors associated with STEC infection in children who present with acute bloody diarrhea. Methods: We performed a prospective cohort study of consecutive children younger than 18 years who presented with acute (<2-week duration) bloody diarrhea between August 1, 2013, and August 1, 2014...
April 2, 2018: Journal of the Pediatric Infectious Diseases Society
https://www.readbyqxmd.com/read/29595541/co-administration-of-amphetamine-with-alcohol-results-in-decreased-alcohol-withdrawal-severity-in-adolescent-rats
#17
Shayna Popkin, Alex Nanchanatt, Madelyn I Mauterer, Dennis E Rhoads
Simultaneous use of stimulants and alcohol is a growing problem, particularly among older adolescents already prone to binge alcohol consumption. Adolescent rats consume high levels of alcohol when administered in a liquid diet and develop a strong alcohol withdrawal syndrome. We exploited this system to administer amphetamine in combination with alcohol and to test the effect of co-administration of amphetamine on alcohol withdrawal-induced hypoactivity and overall withdrawal severity. The presence of dietary amphetamine (≤40 mg/l) had no effect on consumption of control or alcohol-containing diets...
March 27, 2018: Behavioural Pharmacology
https://www.readbyqxmd.com/read/29593851/acupuncture-for-alcohol-use-disorder
#18
Pei Chen, Jing Li, Xiao Han, Dennis Grech, Ming Xiong, Alex Bekker, Jiang-Hong Ye
Alcohol use disorder (AUD) is a common medical and social problem, affecting about 240 million people in the world. To address this major health concern, the currently available treatments for AUD need to be improved. Acupuncture, a popular form of complementary and alternative therapy, is emerging as an effective treatment for AUD. This review summarizes how preclinical and clinical studies are related to the application of acupuncture for AUD. These studies suggest that if used correctly, acupuncture may effectively reduce alcohol intake, attenuate alcohol withdrawal syndrome, and rebalance AUD-induced maladaptation in neurotransmitters and hormones in related brain areas...
2018: International Journal of Physiology, Pathophysiology and Pharmacology
https://www.readbyqxmd.com/read/29587717/the-prevalence-of-metabolic-syndrome-in-patients-receiving-antipsychotics-in-qatar-a-cross-sectional-comparative-study
#19
Samer Hammoudeh, Suhaila Ghuloum, Ziyad Mahfoud, Arij Yehya, Abdulmoneim Abdulhakam, Azza Al-Mujalli, Mahmoud Al-Zirie, Mohamed Osman Abdel Rahman, Angela Godwin, Noura Younes, Yahya Hani, Dennis Mook-Kanamori, Marjonneke Mook-Kanamori, Reem El Sherbiny, Hassen Al-Amin
BACKGROUND: Metabolic abnormalities are common in patients maintained on antipsychotics. These abnormalities increase the risk of cardiovascular diseases and mortality in this population. The aim of this study is to assess the prevalence of metabolic syndrome (MetS) in subjects maintained on antipsychotics relative to controls in Qatar, and to assess the factors contributing to the development of MetS. METHODS: A cross sectional design was used to collect data and fasting blood samples from subjects maintained on antipsychotics for at least six months (n = 112) and from a control group (n = 114)...
March 27, 2018: BMC Psychiatry
https://www.readbyqxmd.com/read/29575149/exercise-decreases-clk2-in-the-liver-of-obese-mice-and-prevents-hepatic-fat-accumulation
#20
Vitor R Muñoz, Rafael C Gaspar, Gabriel K Kuga, Susana C B R Nakandakari, Igor L Baptista, Rania A Mekary, Adelino S R da Silva, Leandro P de Moura, Eduardo R Ropelle, Dennys E Cintra, José R Pauli
The accumulation of fatty acids in the liver associated with obesity condition is also known as nonalcoholic fatty liver disease (NAFLD). The impaired fat oxidation in obesity condition leads to increased hepatic fat accumulation and increased metabolic syndrome risk. On the other hand, physical exercise has been demonstrated as a potent strategy in the prevention of NAFLD. Also, these beneficial effects of exercise occur through different mechanisms. Recently, the Cdc2-like kinase (CLK2) protein was associated with the suppression of fatty acid oxidation and hepatic ketogenesis...
March 25, 2018: Journal of Cellular Biochemistry
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