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Muscle & Nerve Apr 2018Periodic paralyses (PPs) are rare neuromuscular disorders caused by mutations in skeletal muscle sodium, calcium, and potassium channel genes. PPs include hypokalemic... (Review)
Review
Periodic paralyses (PPs) are rare neuromuscular disorders caused by mutations in skeletal muscle sodium, calcium, and potassium channel genes. PPs include hypokalemic paralysis, hyperkalemic paralysis, and Andersen-Tawil syndrome. Common features of PP include autosomal dominant inheritance, onset typically in the first or second decades, episodic attacks of flaccid weakness, which are often triggered by diet or rest after exercise. Diagnosis is based on the characteristic clinic presentation then confirmed by genetic testing. In the absence of an identified genetic mutation, documented low or high potassium levels during attacks or a decrement on long exercise testing support diagnosis. The treatment approach should include both management of acute attacks and prevention of attacks. Treatments include behavioral interventions directed at avoidance of triggers, modification of potassium levels, diuretics, and carbonic anhydrase inhibitors. Muscle Nerve 57: 522-530, 2018.
Topics: Acetazolamide; Andersen Syndrome; Anti-Arrhythmia Agents; Behavior Therapy; Carbonic Anhydrase Inhibitors; Diuretics; Diuretics, Potassium Sparing; Humans; Hydrochlorothiazide; Hypokalemic Periodic Paralysis; Paralyses, Familial Periodic; Paralysis, Hyperkalemic Periodic; Potassium
PubMed: 29125635
DOI: 10.1002/mus.26009 -
Advances in Nutrition (Bethesda, Md.) Jan 2016Obesity is associated with metabolic disturbances that cause tissue stress and dysfunction. Obese individuals are at a greater risk for chronic disease and often present... (Review)
Review
Obesity is associated with metabolic disturbances that cause tissue stress and dysfunction. Obese individuals are at a greater risk for chronic disease and often present with clinical parameters of metabolic syndrome (MetS), insulin resistance, and systemic markers of chronic low-grade inflammation. It has been well established that cells of the immune system play an important role in the pathogenesis of obesity- and MetS-related chronic diseases, as evidenced by leukocyte activation and dysfunction in metabolic tissues such as adipose tissue, liver, pancreas, and the vasculature. However, recent findings have highlighted the substantial impact that obesity and MetS parameters have on immunity and pathogen defense, including the disruption of lymphoid tissue integrity; alterations in leukocyte development, phenotypes, and activity; and the coordination of innate and adaptive immune responses. These changes are associated with an overall negative impact on chronic disease progression, immunity from infection, and vaccine efficacy. This review presents an overview of the impact that obesity and MetS parameters have on immune system function.
Topics: Humans; Immune System; Leukocytes; Lymphoid Tissue; Metabolic Syndrome; Obesity
PubMed: 26773015
DOI: 10.3945/an.115.010207 -
Trends in Endocrinology and Metabolism:... Jul 2019Polycystic ovary syndrome (PCOS) affects 8-13% of women. The Rotterdam diagnostic criteria include polycystic ovarian morphology (PCOM) on ultrasound, but given... (Review)
Review
Polycystic ovary syndrome (PCOS) affects 8-13% of women. The Rotterdam diagnostic criteria include polycystic ovarian morphology (PCOM) on ultrasound, but given recognized challenges, serum anti-Müllerian hormone (AMH) is proposed as an alternative. To inform international PCOS guidelines, a systematic review was completed. Key identified gaps include large international studies in well-defined populations across the lifespan, clustering of AMH with PCOS features, relationships to long-term health outcomes, and improved quality, assay standardization, and sample handling, all needed to determine cut offs. Here we identify research priorities to address these gaps and enhance AMH utility in PCOS. Once issues are addressed, AMH levels could replace more costly and less accessible ultrasound in PCOS diagnosis.
Topics: Anti-Mullerian Hormone; Female; Humans; Ovary; Polycystic Ovary Syndrome
PubMed: 31160167
DOI: 10.1016/j.tem.2019.04.006 -
World Journal of Gastroenterology May 2017To investigate the effect of a low-FODMAP diet on irritable bowel syndrome (IBS)-like symptoms in patients with inflammatory bowel disease (IBD). (Randomized Controlled Trial)
Randomized Controlled Trial
AIM
To investigate the effect of a low-FODMAP diet on irritable bowel syndrome (IBS)-like symptoms in patients with inflammatory bowel disease (IBD).
METHODS
This was a randomised controlled open-label trial of patients with IBD in remission or with mild-to-moderate disease and coexisting IBS-like symptoms (Rome III) randomly assigned to a Low-FODMAP diet (LFD) or a normal diet (ND) for 6 wk between June 2012 and December 2013. Patients completed the IBS symptom severity system (IBS-SSS) and short IBD quality of life questionnaire (SIBDQ) at weeks 0 and 6. The primary end-point was response rates (at least 50-point reduction) in IBS-SSS at week 6 between groups; secondary end-point was the impact on quality of life.
RESULTS
Eighty-nine patients, 67 (75%) women, median age 40, range 20-70 years were randomised: 44 to LFD group and 45 to ND, from which 78 patients completed the study period and were included in the final analysis (37 LFD and 41 ND). There was a significantly larger proportion of responders in the LFD group ( = 30, 81%) than in the ND group ( = 19, 46%); (OR = 5.30; 95%CI: 1.81-15.55, < 0.01). At week 6, the LFD group showed a significantly lower median IBS-SSS (median 115; inter-quartile range [IQR] 33-169) than ND group (median 170, IQR 91-288), = 0.02. Furthermore, the LFD group had a significantly greater increase in SIBDQ (median 60, IQR 51-65) than the ND group (median 50, IQR 39-60), < 0.01.
CONCLUSION
In a prospective study, a low-FODMAP diet reduced IBS-like symptoms and increased quality of life in patients with IBD in remission.
Topics: Adult; Aged; C-Reactive Protein; Diet; Disaccharides; Female; Fermentation; Humans; Inflammatory Bowel Diseases; Internet; Irritable Bowel Syndrome; Male; Middle Aged; Monosaccharides; Oligosaccharides; Patient Compliance; Prospective Studies; Quality of Life; Remission Induction; Young Adult
PubMed: 28566897
DOI: 10.3748/wjg.v23.i18.3356 -
Scientific Reports Nov 2020Upper crossed syndrome (UCS) refers to the altered muscle activations and movement patterns in scapulae along with some abnormal alignment in the upper quarter, which... (Clinical Trial)
Clinical Trial Randomized Controlled Trial
Upper crossed syndrome (UCS) refers to the altered muscle activations and movement patterns in scapulae along with some abnormal alignment in the upper quarter, which may contribute to the dysfunction of the cervicothoracic and glenohumeral joints. The present study aimed to investigate the effectiveness of a comprehensive corrective exercise program (CCEP) and subsequent detraining on alignment, muscle activation, and movement pattern in men with the UCS. This randomized controlled trial included 24 men. The intervention group conducted CCEP (8 weeks), followed by four weeks of detraining and the control group maintained normal daily activities. Electromyography of selected muscles, scapular dyskinesis test, head, shoulder, and thoracic spine angle were measured at baseline, post-test, and follow-up. There were significant differences for Group x time interaction and also for within-group from pre-test to post-test and follow-up in all outcomes. Also, significant differences were observed in three outcomes at post-test and follow-up between the CCEP and control group in favor of the CCEP. In Conclusion, the present study demonstrates that the CCEP for individuals with UCS is feasible and effective, improving muscle activation imbalance, movement patterns, and alignment. Importantly, these improvements were maintained after four weeks of detraining, suggesting lasting neuromuscular re-training adaptations.
Topics: Adult; Dyskinesias; Electromyography; Exercise; Exercise Therapy; Humans; Male; Movement; Muscles; Scapula; Shoulder; Shoulder Joint; Spine
PubMed: 33244045
DOI: 10.1038/s41598-020-77571-4 -
Ugeskrift For Laeger Mar 2023Bladder pain syndrome is rare and leads to increased morbidity and decreased quality of life. The patients are a heterogenous group with different clinical... (Review)
Review
Bladder pain syndrome is rare and leads to increased morbidity and decreased quality of life. The patients are a heterogenous group with different clinical presentations, and little is known of the different aspects of the syndrome. A thorough patient history and specialised diagnostics are required to offer these patients the best possible treatment. This review suggests an algorithm to manage these patients at all levels of the Danish health-care system. It is recommended that final diagnosis and multidisciplinary treatment should be centered at large regional hospitals.
Topics: Humans; Quality of Life; Cystitis, Interstitial; Delivery of Health Care; Syndrome; Algorithms
PubMed: 36999301
DOI: No ID Found -
Genetics in Medicine : Official Journal... Jul 2017Genetic FBN1 testing is pivotal for confirming the clinical diagnosis of Marfan syndrome. In an effort to evaluate variant causality, FBN1 databases are often used. We...
BACKGROUND
Genetic FBN1 testing is pivotal for confirming the clinical diagnosis of Marfan syndrome. In an effort to evaluate variant causality, FBN1 databases are often used. We evaluated the current databases regarding FBN1 variants and validated associated phenotype records with a new Marfan syndrome geno-phenotyping tool called the Marfan score.
METHODS AND RESULTS
We evaluated four databases (UMD-FBN1, ClinVar, the Human Gene Mutation Database (HGMD), and Uniprot) containing 2,250 FBN1 variants supported by 4,904 records presented in 307 references. The Marfan score calculated for phenotype data from the records quantified variant associations with Marfan syndrome phenotype. We calculated a Marfan score for 1,283 variants, of which we confirmed the database diagnosis of Marfan syndrome in 77.1%. This represented only 35.8% of the total registered variants; 18.5-33.3% (UMD-FBN1 versus HGMD) of variants associated with Marfan syndrome in the databases could not be confirmed by the recorded phenotype.
CONCLUSION
FBN1 databases can be imprecise and incomplete. Data should be used with caution when evaluating FBN1 variants. At present, the UMD-FBN1 database seems to be the biggest and best curated; therefore, it is the most comprehensive database. However, the need for better genotype-phenotype curated databases is evident, and we hereby present such a database.Genet Med advance online publication 01 December 2016.
Topics: Databases, Factual; Databases, Nucleic Acid; Female; Fibrillin-1; Fibrillins; Genetic Association Studies; Genetic Testing; Genetic Variation; Genotype; Humans; Male; Marfan Syndrome; Microfilament Proteins; Mutation; Phenotype
PubMed: 27906200
DOI: 10.1038/gim.2016.181 -
Ugeskrift For Laeger Apr 2023Kidney stone disease is rapidly increasing with a strong relationship to metabolic syndrome. This review gives a brief overview of the current state and current... (Review)
Review
Kidney stone disease is rapidly increasing with a strong relationship to metabolic syndrome. This review gives a brief overview of the current state and current treatment modalities. Increasing use of CT and ultrasound scans leads to increased diagnosis of asymptomatic kidney stones, which rarely require treatment. The trend in stone treatment goes towards endoscopic lithotripsy which together with ESWL enables a personalised approach. Obstructive stones with infection require urgent intervention to reduce mortality. Increased fluid intake, dietary changes as well as potassium citrate supplements are the most important elements in stone prevention in the common idiopathic stone disease.
Topics: Humans; Treatment Outcome; Kidney Calculi; Lithotripsy; Citric Acid
PubMed: 37057692
DOI: No ID Found