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Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo–Bartter/Gitelman syndrome based on clinical characteristics
Differential diagnosis of Bartter syndrome, Gitelman syndrome, and pseudo–Bartter/Gitelman syndrome based on clinical characteristics
Genetics in Medicine 18,
180 (February 2016). doi:10.1038/gim.2015.56
Authors: Natsuki Matsunoshita, Kandai Nozu, Akemi Shono, Yoshimi Nozu, Xue Jun Fu, Naoya Morisada, Naohiro Kamiyoshi, Hiromi Ohtsubo, Takeshi Ninchoji, Shogo Minamikawa, Tomohiko Yamamura, Koichi Nakanishi, Norishige Yoshikawa, Yuko Shima, Hiroshi Kaito & Kazumoto Iijima
Source: Genetics in Medicine - February 1, 2016 Category: Genetics & Stem Cells Authors: Natsuki MatsunoshitaKandai NozuAkemi ShonoYoshimi NozuXue Jun FuNaoya MorisadaNaohiro KamiyoshiHiromi OhtsuboTakeshi NinchojiShogo MinamikawaTomohiko YamamuraKoichi NakanishiNorishige YoshikawaYuko ShimaHiroshi KaitoKazumoto Iijima Tags: Bartter syndrome Gitelman syndrome pseudo-Bartter pseudo-Gitelman salt-losing tubulopathy Source Type: research
Living with Rett syndrome, living with hope
For the first year of her life, Ava Gryniewicz seemed to be developing like any other happy baby. She had learned a few words, including “mama” and “dada,” and was picking up Cheerios with pincer fingers.
But by the time she was 14 months old, everything had changed. Ava started to lose these skills and wasn’t reaching other milestones. At the recommendation of her daycare center, she started early intervention.
“She wasn’t keeping up and her daycare providers were concerned that standard daycare might be too much for her,” says her mom, Joanne. That’s when Joanne and her husband Jack decided to have Ava ...
Source: Thrive, Children's Hospital Boston - June 1, 2017 Category: Pediatrics Authors: Ellen Greenlaw Tags: Our Patients’ Stories Alycia Berg Augmentative communication Dr. Jonathan Picker rett syndrome Rett Syndrome Program Suzanne Rose Source Type: news
Role of T Regulatory Lymphocytes in the Pathogenesis of High-Fructose Diet-Induced Metabolic Syndrome Metabolic Syndrome
We recently showed that T regulatory lymphocytes (Treg), which are immune suppressors of inflammatory responses, play a role blunting the development of hypertension-induced injury. Treg are unchanged or decreased in children with metabolic syndrome, and therefore, their role in metabolic syndrome remains unclear. We hypothesized that Treg number or function would be depressed in a high-fructose diet–induced metabolic syndrome-like model in rats. Sprague-Dawley rats were fed normal chow or a high-fructose diet for 5 weeks. The high-fructose diet–induced a 3.8-fold increase in plasma triglycerides and a 14% redu...
Source: Hypertension - May 15, 2013 Category: Cardiology Authors: Leibowitz, A., Rehman, A., Paradis, P., Schiffrin, E. L. Tags: Lipids, Remodeling, Animal models of human disease, Other hypertension, Endothelium/vascular type/nitric oxide Metabolic Syndrome Source Type: research
Effectiveness of a community screening program for metabolic syndrome and cardiovascular risk factor identification in young South Asians adults
Conclusions This is the largest study to date assessing effectiveness of a community based screening program aiming to identify cardiovascular risk in young South Asians. We note significant modifiable risk at a young age. Such community based interventions can be effective at detecting and managing risk factors early in this vulnerable population.
Source: Diabetes and Metabolic Syndrome: Clinical Research and Reviews - October 12, 2014 Category: Endocrinology Source Type: research
Metabolic syndrome and C-reactive protein in bank employees
Conclusion: us-CRP was strongly associated with the presence of MS and MS criteria in this group of workers. us-CRP is a useful and effective marker for identifying the development of MS and may be used as a reference in routine care. Keywords: C-reactive protein, bank employees, metabolic syndrome, inflammation mediators, occupational health
Source: Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy - May 10, 2016 Category: Endocrinology Tags: Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy Source Type: research
Catching up with Kenslie: Life after midaortic syndrome surgery
We last saw Kenslie Shealy in the spring of 2015, as she was settling back into life at home in South Carolina after a long stay at Boston Children’s Hospital. Kenslie, now 4, had emergency surgery for midaortic syndrome (MAS), a rare condition that affects the heart and kidneys. Untreated, the condition can lead to damage in the brain, intestines and limbs.
At Boston Children’s, Kenslie’s multi-disciplinary team included specialists in cardiology, interventional cardiology, nephrology, transplant and vascular surgery, interventional radiology, genetics and rheumatology.
She recovered well after her f...
Source: Thrive, Children's Hospital Boston - December 5, 2016 Category: Pediatrics Authors: Erin Horan Tags: Our Patients’ Stories Dr. Deborah Stein Dr. Diego Porras Heung Bae Kim midaortic syndrome Midaortic Syndrome and Renovascular Hypertension (MAS/RVH) Program Source Type: news
ABCA1 and metabolic syndrome; a review of the ABCA1 role in HDL-VLDL production, insulin-glucose homeostasis, inflammation and obesity
Publication date: Available online 8 March 2019Source: Diabetes & Metabolic Syndrome: Clinical Research & ReviewsAuthor(s): Mohammad Mahdi Babashamsi, Saeideh Zamani Koukhaloo, Sohrab Halalkhor, Ali Salimi, Mohammad BabashamsiAbstractATP-binding cassette transporter A1 (ABCA1) is an integral cell-membrane protein that mediates the rate-limiting step of high density lipoprotein (HDL) biogenesis and suppression of inflammation by triggering a number of signaling pathways via interacting with an apolipoprotein acceptor. The hepatic ABCA1 is involved in regulation of very low density lipoprotein (VLDL) production by affecting ...
Source: Diabetes and Metabolic Syndrome: Clinical Research and Reviews - March 9, 2019 Category: Endocrinology Source Type: research
Primary care physicians' knowledge, attitudes and practices related to metabolic syndrome screening and management in Alahsa, Saudi Arabia
ConclusionThere is a need to increase the awareness of MS among the PHC Physicians. More training programs need to be planned. A better awareness among primary care physician is warranted for an early diagnosis and effective management of MS in Saudi Arabia.
Source: Diabetes and Metabolic Syndrome: Clinical Research and Reviews - July 16, 2019 Category: Endocrinology Source Type: research
Primary care physicians' knowledge, attitudes and practices related to metabolic syndrome screening and management in Alahsa, Saudi Arabia
ConclusionThere is a need to increase the awareness of MS among the PHC Physicians. More training programs need to be planned. A better awareness among primary care physician is warranted for an early diagnosis and effective management of MS in Saudi Arabia.
Source: Diabetes and Metabolic Syndrome: Clinical Research and Reviews - July 20, 2019 Category: Endocrinology Source Type: research
The Long-Term Efficacy and Safety of Fluphenazine in Patients with Tourette Syndrome (P02.057)
CONCLUSIONS: Our study shows that fluphenazine is safe and effective in patients with TS. Although tardive dyskinesia is potential risk it did not occur in this large cohort of patients treated with fluphenazine for up to 16.8 years.Disclosure: Dr. Wijemanne has nothing to disclose. Dr. Jankovic has received personal compensation for activities with Allergan, Inc., Chelsea Therapeutics, EMD Serono, Merz Pharmaceuticals, Lundbeck, and Teva Neuroscience as a consultant. Dr. Jankovic has received personal compensation in an editorial capacity for Medlink: Neurology in Clinical Practice. Dr. Jankovic has received research supp...
Source: Neurology - February 14, 2013 Category: Neurology Authors: Wijemanne, S., Jankovic, J. Tags: P02 Restless Legs Syndrome, Tourette Syndrome, and Dystonia Source Type: research
Interim Analysis of an Open-Label, Multi-Center Study of Ecopipam, a Dopamine D1 Receptor Antagonist, for Tic Reduction in Adults with Tourette Syndrome (P02.058)
CONCLUSIONS: In this open-label study, oral ecopipam appeared to reduce tic severity without causing weight gain. To confirm treatment safety and efficacy, further double blind, placebo-controlled randomized trials in children and in adults with TS are warranted.Supported by: Psyadon Pharmaceuticals, Inc.Disclosure: Dr. Gilbert has received personal compensation in an editorial capacity for Pediatrics Review and Education Program. Dr. Gilbert has received research support from Psyadon Pharmaceuticals and Otsuka Pharmaceuticals. Dr. Budman has received research support from Psyadon Pharmaceuticals and Otsuka Pharmaceuticals...
Source: Neurology - February 14, 2013 Category: Neurology Authors: Gilbert, D., Budman, C., Singer, H., Kurlan, R., Kwan, R., Chipkin, R. Tags: P02 Restless Legs Syndrome, Tourette Syndrome, and Dystonia Source Type: research
Is Transcutaneous Spinal Direct Current Stimulation Efficient in Symptomatic Treatment of Patients with Idiopathic Restless Legs Syndrome? (P02.060)
CONCLUSIONS: Our data indicate that tsDCS is efficient in alleviating RLS symptoms and might become a completely new, non-pharmacological therapeutic tool for primary RLS patients.Supported by: German Restless Legs Syndrom patients' organization (RLS e.V.).Disclosure: Dr. Heide has nothing to disclose. Dr. Winkler has nothing to disclose. Dr. Nitsche has received personal compensation for activities with Neuroelectrics, Eisai, Inc., UCB Pharma, and GlaxoSmithKline, Inc. Dr. Nitsche has received research support from Eisai, Inc. UCB Pharma, and GlaxoSmithKline, Inc. Dr. Heide has received personal compensation for activitie...
Source: Neurology - February 14, 2013 Category: Neurology Authors: Heide, A.-C., Winkler, T., Nitsche, M., Heide, W., Trenkwalder, C., Paulus, W., Bachmann, C. Tags: P02 Restless Legs Syndrome, Tourette Syndrome, and Dystonia Source Type: research
Can Childhood Comorbidities Be Good Predictors of Functional Outcome in Adults with Tourette Syndrome? A Series of 140 Cases (P02.061)
CONCLUSIONS: In TS associated co-morbidities (ADD or OCD) do not predict functional outcome in adults compared to those without co-morbidities, however, further comprehensive age specific assessment of functional impairment in larger population might be necessary.Disclosure: Dr. Mainali has nothing to disclose. Dr. Velander has nothing to disclose. Dr. Lederman has nothing to disclose. Dr. Erenberg has nothing to disclose.
Source: Neurology - February 14, 2013 Category: Neurology Authors: Mainali, G., Velander, L., Lederman, R., Erenberg, G. Tags: P02 Restless Legs Syndrome, Tourette Syndrome, and Dystonia Source Type: research
Weight loss for women with and without polycystic ovary syndrome following a very low-calorie diet in a community-based setting with trained facilitators for 12 weeks
Conclusion: Overall, LighterLife Total could be an effective weight-loss strategy in overweight/obese women with PCOS. However, further investigations are needed to achieve a thorough way of understanding the physiology of weight loss in PCOS. Keywords: obesity, PCOS, LighterLife, VLCD
Source: Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy - October 14, 2015 Category: Endocrinology Tags: Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy Source Type: research
Evaluating the impact of type 2 diabetes mellitus on cardiovascular risk in persons with metabolic syndrome using the UKPDS risk engine
Conclusion: MS was more common in subjects with T2DM compared with controls (irrespective of the diagnostic criteria used) and MS appears to increase the risk of a coronary event in subjects with T2DM by threefold. Also from this study, MS did not appear to cause an additional increase in the risk of stroke in subjects with T2DM.Keywords: diabetes mellitus, metabolic syndrome, coronary heart disease, cardiovascular disease, UKPDS risk engine
Source: Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy - September 15, 2015 Category: Endocrinology Tags: Diabetes, Metabolic Syndrome and Obesity: Targets and Therapy Source Type: research
