1,776 results match your criteria Endocrine Myopathies


Periodic paralysis with normokalemia in a patient with hyperthyroidism: A case report.

Medicine (Baltimore) 2018 Nov;97(46):e13256

Department of Emergency Medicine, Kaohsiung Medical University Hospital.

Rationale: Thyrotoxic periodic paralysis is characterized by a sudden onset of hypokalemia and paralysis. This condition mainly affects the lower extremities and is secondary to thyrotoxicosis. The underlying hyperthyroidism is often subtle without typical symptoms such as palpitations, tremors, anxiety, and weight loss; this causes a difficulty in early diagnosis. Read More

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http://dx.doi.org/10.1097/MD.0000000000013256DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6257648PMC
November 2018
9 Reads

Role of autophagy in inherited metabolic and endocrine myopathies.

Biochim Biophys Acta Mol Basis Dis 2019 Jan 18;1865(1):48-55. Epub 2018 Oct 18.

Center for Cardiovascular Research and Alternative Medicine, University of Wyoming College of Health Sciences, Laramie, WY 82071, USA. Electronic address:

The prevalence of cardiometabolic disease has reached an exponential rate of rise over the last decades owing to high fat/high caloric diet intake and satiety life style. Although the presence of dyslipidemia, insulin resistance, hypertension and obesity mainly contributes to the increased incidence of cardiometabolic diseases, population-based, clinical and genetic studies have revealed a rather important role for inherited myopathies and endocrine disorders in the ever-rising metabolic anomalies. Inherited metabolic and endocrine diseases such as glycogen storage and lysosomal disorders have greatly contributed to the overall prevalence of cardiometabolic diseases. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09254439183040
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http://dx.doi.org/10.1016/j.bbadis.2018.10.023DOI Listing
January 2019
5 Reads

Myotonic Dystrophies: Targeting Therapies for Multisystem Disease.

Neurotherapeutics 2018 Oct;15(4):872-884

Department of Neurology, The Ohio State University, 395 West 12th Avenue, Columbus, OH, 43210, USA.

Myotonic dystrophy is an autosomal dominant muscular dystrophy not only associated with muscle weakness, atrophy, and myotonia but also prominent multisystem involvement. There are 2 similar, but distinct, forms of myotonic dystrophy; type 1 is caused by a CTG repeat expansion in the DMPK gene, and type 2 is caused by a CCTG repeat expansion in the CNBP gene. Type 1 is associated with distal limb, neck flexor, and bulbar weakness and results in different phenotypic subtypes with variable onset from congenital to very late-onset as well as variable signs and symptoms. Read More

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http://link.springer.com/10.1007/s13311-018-00679-z
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http://dx.doi.org/10.1007/s13311-018-00679-zDOI Listing
October 2018
15 Reads

Efficacy and safety of everolimus in hormone receptor positive breast cancer in a developing country: Real-life single institutional experience.

J Cancer Res Ther 2018 Jul-Sep;14(5):1112-1116

Department of Hematology-Oncology, Faculty of Medicine, Saint Joseph University, Beirut, Lebanon.

Introduction: Breast cancer is the second leading cause of cancer-related mortality despite the staggering improvement in cancer therapeutics. So far, published data illustrate endocrine therapy as the cornerstone treatment for patients with hormone receptor-positive metastatic breast cancer. Unfortunately, most patients eventually develop resistance to this treatment. Read More

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http://www.cancerjournal.net/text.asp?2018/14/5/1112/183552
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http://dx.doi.org/10.4103/0973-1482.183552DOI Listing
October 2018
2 Reads

Evaluation of potential effects of Plastin 3 overexpression and low-dose SMN-antisense oligonucleotides on putative biomarkers in spinal muscular atrophy mice.

PLoS One 2018 6;13(9):e0203398. Epub 2018 Sep 6.

Institute of Human Genetics, University of Cologne, Cologne, Germany.

Objectives: Spinal muscular atrophy (SMA) is a devastating motor neuron disorder caused by homozygous loss of the survival motor neuron 1 (SMN1) gene and insufficient functional SMN protein produced by the SMN2 copy gene. Additional genetic protective modifiers such as Plastin 3 (PLS3) can counteract SMA pathology despite insufficient SMN protein. Recently, Spinraza, an SMN antisense oligonucleotide (ASO) that restores full-length SMN2 transcripts, has been FDA- and EMA-approved for SMA therapy. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0203398PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6126849PMC
September 2018
1 Read

[Obstructive sleep apnea hypopnea syndrome and alveolar hypoventilation syndrome in motor neuron disease: A case report and literature review].

Zhong Nan Da Xue Xue Bao Yi Xue Ban 2018 Jan;43(1):106-112

Department of Respiratory Medicine, Second Xiangya Hospital, Central South University, Changsha 410011, China.

Objective: To investigate the clinical characteristics of a patient with motor neuron disease, which caused sleep-disordered breathing (SDB) and alveolar hypoventilation syndrome, and to improve the diagnosis rate for this disease.
 Methods: Retrospectively analyze the diagnosis and treatment process for a 52 year-old male patient, who was accepted by the Second Xiangya Hospital, Central South University because of dyspnea, shortness of breath and malaise for 4 months, and eventually was diagnosed as motor neuron disease associated with obstructive sleep apnea hypopnea syndrome and alveolar hypoventilation syndrome. In addition, we searched CNKI, Wanfang and PubMed databases to review relevant literature with keywords (motor neuron disease or amyotrophic lateral sclerosis or progressive bulbar palsy or progressive muscular atrophy or primary lateral sclerosis) AND (sleep apnea or sleep disordered breathing) from January 1990 to May 2017. Read More

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http://dx.doi.org/10.11817/j.issn.1672-7347.2018.01.017DOI Listing
January 2018
4 Reads

[Osteoarthropathies and Myopathies associated with Disorders of the Thyroid Endocrine System].

Authors:
Volker Nehls

Dtsch Med Wochenschr 2018 Aug 7;143(16):1174-1180. Epub 2018 Aug 7.

Triiodothyronine (T3) is a key regulator of bone, muscle and articular cartilage. Musculoskeletal symptoms of hyperthyroidism include loss of bone mass finally leading to osteoporosis and weakness of the skeletal musculature. Hypothyroidism on the other side frequently leads to muscle stiffness and cramping and, occasionally, results in rhabdomyolysis. Read More

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http://dx.doi.org/10.1055/s-0043-121381DOI Listing
August 2018
2 Reads

Molecular analysis of enthesopathy in a mouse model of hypophosphatemic rickets.

Development 2018 08 10;145(15). Epub 2018 Aug 10.

Endocrine Unit, Massachusetts General Hospital, Boston, MA 02114, USA

The bone tendon attachment site known as the enthesis comprises a transitional zone between bone and tendon, and plays an important role in enabling movement at this site. X-linked hypophosphatemia (XLH) is characterized by impaired activation of vitamin D, elevated serum FGF23 levels and low serum phosphate levels, which impair bone mineralization. Paradoxically, an important complication of XLH is mineralization of the enthesis (enthesopathy). Read More

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http://dx.doi.org/10.1242/dev.163519DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6110149PMC
August 2018
2 Reads

Reduction of Glucocorticoid Receptor Function in Chronic Fatigue Syndrome.

Mediators Inflamm 2018 10;2018:3972104. Epub 2018 Jun 10.

Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.

Glucocorticoid receptor (GR) function may have aetiopathogenic significance in chronic fatigue syndrome (CFS), via its essential role in mediating inflammatory responses as well as in hypothalamic-pituitary-adrenal axis regulation. GR function can be estimated ex vivo by measuring dexamethasone (dex) modulation of cytokine response to lipopolysaccharide (LPS), and using the impact of dex on cortisol levels. This study aimed to compare the GR function between CFS ( = 48), primary Sjögren's syndrome (a disease group control) ( = 27), and sedentary healthy controls (HCs) ( = 20), and to investigate its relationship with clinical measures. Read More

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http://dx.doi.org/10.1155/2018/3972104DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6015684PMC
October 2018
1 Read

Clodronate in the management of different musculoskeletal conditions.

Minerva Med 2018 Aug;109(4):300-325

Division of Orthopedics and Traumatology, School of Medical and Pharmaceutical Science, DINOGMI Department, Section of Orthopedic Rehabilitation, University of Genoa, Genoa, Italy.

Introduction: Clodronic acid is a non-nitrogen-containing bisphosphonate largely used from some decades in the prevention and treatment of postmenopausal and secondary osteoporosis. In addition to antiresorptive activity, clodronate has shown anti-inflammatory and analgesic properties, and modulatory effects on bone and cartilage metabolism.

Evidence Acquisition: A literature review has been conducted to characterize the mechanism of action of clodronate and to retrieve available evidence about the use of clodronate in primary and secondary osteoporosis, and its potential role in other musculoskeletal conditions and orthopedic surgery. Read More

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http://dx.doi.org/10.23736/S0026-4806.18.05688-4DOI Listing
August 2018
4 Reads

Massive faecal impaction leading to abdominal compartment syndrome and acute lower limb ischaemia.

BMJ Case Rep 2018 Jun 20;2018. Epub 2018 Jun 20.

General and Endocrine Surgery, Footscray Hospital, Footscray, Victoria, Australia.

Abdominal compartment syndrome (ACS) is associated with significant morbidity and mortality requiring prompt treatment. We report a rare case of a 57-year-old man who developed acute lower limb ischaemia, severe metabolic acidosis and renal impairment from massive faecal impaction of unknown aetiology resulting in ACS causing occlusion of the right common iliac artery. This was treated with faecal disimpaction, which eventually resulted in slow but full recovery. Read More

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http://dx.doi.org/10.1136/bcr-2018-225202DOI Listing
June 2018
1 Read

Temporomandibular Disorders Related to Stress and HPA-Axis Regulation.

Pain Res Manag 2018 2;2018:7020751. Epub 2018 May 2.

Department of Clinical Dentistry, University of Bergen, Bergen, Norway.

Temporomandibular disorders (TMDs) are characterized by pain and dysfunction in the masticatory apparatus and the temporomandibular joint (TMJ). Previous trauma, stress symptoms, psychosocial impairment, and catastrophizing have been related to TMD. To assess if the hypothalamic-pituitary-adrenal (HPA) axis is upregulated in TMD patients, we performed a cross-sectional study with saliva from 44 TMD patients and 44 healthy sex- and age-matched controls for cortisol () and cortisone () with liquid chromatography-tandem mass spectrometry. Read More

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http://dx.doi.org/10.1155/2018/7020751DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5954859PMC
December 2018
2 Reads

Transcriptional profiling reveals extraordinary diversity among skeletal muscle tissues.

Elife 2018 May 29;7. Epub 2018 May 29.

Division of Pulmonary and Critical Care Medicine, Washington University School of Medicine, St. Louis, United States.

Skeletal muscle comprises a family of diverse tissues with highly specialized functions. Many acquired diseases, including HIV and COPD, affect specific muscles while sparing others. Even monogenic muscular dystrophies selectively affect certain muscle groups. Read More

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http://dx.doi.org/10.7554/eLife.34613DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6008051PMC
May 2018
18 Reads

[Indirect and mixed mechanisms of action in toxic myopathies].

Ann Pharm Fr 2018 Jul 24;76(4):273-285. Epub 2018 May 24.

Service de toxicologie, CHU Bab-El-Oued, rue Mohamed Lamine Debaghine, 16009 Alger, Algérie; Centre national de toxicologie, route du petit Staouali Delly Brahim, 16062 Alger, Algérie.

Toxic myopathies are a group of pathologies characterized by a structural and/or functional disturbance of muscles induced by an exogenous agent. The most frequent are those induced by drugs used in clinical practice. Illegal drugs, pesticides, solvents, metals and even physical and gaseous agents can cause this kind of disease and exert toxicity on muscle tissues. Read More

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http://dx.doi.org/10.1016/j.pharma.2018.03.004DOI Listing
July 2018
4 Reads

Juvenile dermatomyositis: Latest advances.

Best Pract Res Clin Rheumatol 2017 08 10;31(4):535-557. Epub 2018 Jan 10.

Paediatric Rheumatology Department, Alder Hey Children's NHS Foundation Trust, Eaton Road, Liverpool, L12 2AP, United Kingdom. Electronic address:

Registries and biobanks for juvenile dermatomyositis (JDM) have generated statistical power to help understand pathogenesis and determine treatment and long-term outcomes in this rare and heterogeneous disease. Genotype, autoantibodies, muscle histology and early clinical features may predict prognosis and guide personalised treatment. While corticosteroids and disease-modifying anti-rheumatic drugs improve outcomes, there remain children who experience refractory disease. Read More

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http://dx.doi.org/10.1016/j.berh.2017.12.003DOI Listing
August 2017
2 Reads

Is the epicardial left ventricular lead implantation an alternative approach to percutaneous attempt in patients with Steinert disease? A case report.

Acta Myol 2017 Dec 1;36(4):213-217. Epub 2017 Dec 1.

Cardiomyology and Medical Genetics, University Hospital of Campania "L. Vanvitelli", Naples, Italy.

Steinert's disease or Myotonic Dystrophy type 1 (DM1) is an autosomal dominant multisystemic disorder characterized by myotonia, muscle and facial weakness, cataracts, cognitive, endocrine and gastrointestinal involvement, and cardiac conduction abnormalities. Although mild myocardial dysfunction may be detected in this syndrome with age, overt myocardial dysfunction with heart failure is not frequent. Cardiac resynchronization therapy is an effective treatment to improve morbidity and reduce mortality in patients with DM1 showing intra-ventricular conduction delay and/or congestive heart failure. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5953235PMC
December 2017
2 Reads

Study of anti-Müllerian hormone levels in patients with Myotonic Dystrophy Type 1. Preliminary results.

Acta Myol 2017 Dec 1;36(4):199-202. Epub 2017 Dec 1.

Cardiomyology and Medical Genetics and University of Campania "Luigi Vanvitelli", Naples, Italy.

Myotonic dystrophy type 1 is a multisystemic disorder characterized by myotonia, muscle weakness and involvement of several organs and apparatus such as heart, lungs, eye, brain and endocrine system. Hypogonadism and reproductive abnormalities are frequently reported. A progressive testicular atrophy occurs in about 80% in the affected males leading to Leydig cell hyperproliferation and elevated basal follicle stimulating hormone (FSH) levels. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5953232PMC
December 2017
10 Reads

Electro-acupuncture attenuates inflammatory responses and intraabdominal pressure in septic patients: A randomized controlled trial.

Medicine (Baltimore) 2018 Apr;97(17):e0555

Intensive Care Unit, Tongde Hospital of Zhejiang Province.

Background: A pathological increase in intraabdominal pressure (IAP) and inflammatory responses have negative effects on splanchnic, respiratory, cardiovascular, renal, and neurological function in septic patients with intestinal dysfunction. Electro-acupuncture (EA) has been evidenced to have a bidirectional neuron-endocrine-immune system regulating effect in patients with intestinal dysfunction. The purpose of current study was to evaluate the effects of EA at "Zusanli" (ST36) and "Shangjuxu" (ST37) on inflammatory responses and IAP in septic patients with intestinal dysfunction manifested syndrome of obstruction of the bowels Qi. Read More

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http://dx.doi.org/10.1097/MD.0000000000010555DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5944568PMC
April 2018
3 Reads

Clinical and laboratory features of patients with osteomalacia initially presenting with neurological manifestations.

Osteoporos Int 2018 Jul 5;29(7):1617-1626. Epub 2018 Apr 5.

Department of Neurology, Yonsei University College of Medicine, Seoul, South Korea.

Patients with osteomalacia often visit the neurology department with conditions mimicking other myopathies. We analyzed clinical features of osteomalacia patients who visited the neurology department. These patients frequently presented with hypocalcemia, hypovitaminosis D, and pain with less severe weakness. Read More

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http://link.springer.com/10.1007/s00198-018-4501-1
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http://dx.doi.org/10.1007/s00198-018-4501-1DOI Listing
July 2018
1 Read

Complex Phenotypes in Inborn Errors of Metabolism: Overlapping Presentations in Congenital Disorders of Glycosylation and Mitochondrial Disorders.

Pediatr Clin North Am 2018 04;65(2):375-388

Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium; Hayward Genetics Center, Tulane University Medical School, New Orleans, LA, USA. Electronic address:

Congenital disorders of glycosylation (CDG) and mitochondrial disorders have overlapping clinical features, including central nervous system, cardiac, gastrointestinal, hepatic, muscular, endocrine, and psychiatric disease. Specific abnormalities orienting the clinician toward the right diagnostic approach include abnormal fat distribution, coagulation abnormalities, together with anticoagulation abnormalities, hyperinsulinism, and congenital malformations in CDG. Diabetes, sensorineural deafness, and depression are very rare in CDG but common in mitochondrial disease. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00313955173018
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http://dx.doi.org/10.1016/j.pcl.2017.11.012DOI Listing
April 2018
16 Reads

[Dropped head syndrome as first manifestation of primary hyperparathyroid myopathy].

Rinsho Shinkeigaku 2018 Mar 28;58(3):193-197. Epub 2018 Mar 28.

Department of Neurology, JA Toride Medical Center.

75 years old woman presented with 6-month history of progressive dropped head syndrome. Neurological examination revealed moderate weakness of flexor and extensor of neck and mild weakness of proximal appendicular muscles with normal deep tendon reflexes. The needle electromyography showed short duration and low amplitude motor unit potential. Read More

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http://dx.doi.org/10.5692/clinicalneurol.cn-001125DOI Listing
March 2018
3 Reads

The metabolic and endocrine characteristics in spinal and bulbar muscular atrophy.

J Neurol 2018 May 20;265(5):1026-1036. Epub 2018 Feb 20.

Department of Neurology, University of Ulm, Oberer Eselsberg 45, 89081, Ulm, Germany.

Objective: Spinal and bulbar muscular atrophy (SBMA) is caused by an abnormal expansion of the CAG repeat in the androgen receptor gene. This study aimed to systematically phenotype a German SBMA cohort (n = 80) based on laboratory markers for neuromuscular, metabolic, and endocrine status, and thus provide a basis for the selection of biomarkers for future therapeutic trials.

Methods: We assessed a panel of 28 laboratory parameters. Read More

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http://dx.doi.org/10.1007/s00415-018-8790-2DOI Listing
May 2018
28 Reads

[New Diagnostic Biomarkers for Chronic Fatigue Syndrome].

Brain Nerve 2018 Jan;70(1):27-34

Health Metrics Development Team, RIKEN Compass to Healthy Life Research Complex Program.

Chronic fatigue syndrome (CFS) is a persistent and unexplained pathological state characterized by exertional and severely debilitating fatigue, with/without symptoms of infection or neuropsychiatric symptoms, and with a minimum duration of 6 consecutive months. The pathogenesis of CFS is not fully understood. There are no firmly established diagnostic biomarkers or treatment, due to incomplete understanding of the etiology of CFS and diagnostic uncertainty. Read More

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http://dx.doi.org/10.11477/mf.1416200946DOI Listing
January 2018

Paratesticular myositis ossificans of the spermatic cord.

BMJ Case Rep 2018 Jan 4;2018. Epub 2018 Jan 4.

Department of Urology, Adelaide and Meath Hospital, Dublin, Ireland.

A 56-year-old man presented with a painless scrotal lump, enlarging over the preceding 1 month. The lump was roughly 1 cm in size, and located in his left hemiscrotum and separate from the testis. An ultrasound revealed an echogenic focus with dystrophic tissue calcification. Read More

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http://dx.doi.org/10.1136/bcr-2017-223178DOI Listing
January 2018
3 Reads

Transforming growth factor beta (TGF-β) in adolescent chronic fatigue syndrome.

J Transl Med 2017 12 4;15(1):245. Epub 2017 Dec 4.

Research Laboratory, Nordland Hospital, Bodø, Norway.

Background: Chronic fatigue syndrome (CFS) is a prevalent and disabling condition among adolescent. The disease mechanisms are unknown. Previous studies have suggested elevated plasma levels of several cytokines, but a recent meta-analysis of 38 articles found that of 77 different cytokines measured in plasma, transforming growth factor beta (TGF-β) was the only one that was elevated in patients compared to controls in a sufficient number of articles. Read More

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http://dx.doi.org/10.1186/s12967-017-1350-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5716371PMC
December 2017
14 Reads

Diagnostic work-up in steroid myopathy.

Endocrine 2018 05 15;60(2):219-223. Epub 2017 Nov 15.

Department of Translational Neurosciences and Neurotherapeutics, John Wayne Cancer Institute and Pacific Neuroscience Institute, Santa Monica, CA, USA.

Introduction: Steroid myopathy is a well-known sign of endogenous Cushing's syndrome as well as a side effect of glucocorticoid administration. The clinical finding of muscle weakness and the clinical inspection of the muscle size are the most commonly used diagnostic tools, sometimes in combination with needle electromyography, but there are no means to detect the myopathy before the appearance of clinical or electrodiagnostic signs. Until now, no guidelines have been produced for a disease-specific evaluation of muscle impairment in patients with Cushing's syndrome. Read More

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http://dx.doi.org/10.1007/s12020-017-1472-5DOI Listing
May 2018
5 Reads

The advantages of hypnosis intervention on breast cancer surgery and adjuvant therapy.

Breast 2018 Feb 11;37:114-118. Epub 2017 Nov 11.

Breast Clinic, King Albert II Cancer Institute, Cliniques Universitaires Saint-Luc, Avenue Hippocrate, 10, 1200, Brussels, Belgium.

Background: In oncology, hypnosis has been used for pain relief in metastatic patients but rarely for induction of anesthesia.

Material And Method: Between January 2010 and October 2015, 300 patients from our Breast Clinic (Cliniques universitaires Saint-Luc, Université catholique de Louvain) were included in an observational, non-randomized study approved by our local ethics committee (ClinicalTrials.gov - NCT03003611). Read More

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http://dx.doi.org/10.1016/j.breast.2017.10.017DOI Listing
February 2018
1 Read

Randomized placebo-controlled pilot trial of omega 3 fatty acids for prevention of aromatase inhibitor-induced musculoskeletal pain.

Breast Cancer Res Treat 2018 02 3;167(3):709-718. Epub 2017 Nov 3.

Stefanie Spielman Comprehensive Breast Center, The Ohio State University, Columbus, OH, USA.

Purpose: Aromatase inhibitor (AI)-induced joint symptoms negatively impact drug adherence and quality of life in breast cancer survivors. Mechanisms underlying symptoms may include inflammation. It is hypothesized that n - 3 polyunsaturated fatty acids (PUFAs) have anti-inflammatory properties and may reduce symptoms. Read More

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http://dx.doi.org/10.1007/s10549-017-4559-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5809189PMC
February 2018
10 Reads

Sex differences and estradiol involvement in hyperalgesia and allodynia in an experimental model of fibromyalgia.

Horm Behav 2018 01 8;97:39-46. Epub 2017 Nov 8.

Departamento de Farmacobiología, Cinvestav, Unidad Coapa, Calz. De los Tenorios 235, Col. Granjas Coapa, 14330 Mexico City, Mexico. Electronic address:

Fibromyalgia (FM) is a musculoskeletal chronic pain syndrome. Its prevalence in women is higher than in men possibly by hormonal factors given that symptoms are aggravated during sex hormone-related events, such as the premenstrual period, pregnancy, postpartum or menopause. The aim of the present study was to investigate whether hyperalgesia and allodynia, in reserpine-induced experimental FM, depend on sex, estrous cycle, ovariectomy and replacement with 17β-estradiol. Read More

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http://dx.doi.org/10.1016/j.yhbeh.2017.10.011DOI Listing
January 2018
3 Reads

Successful treatment of a patient with statin-induced myopathy and myotonic dystrophy type II with proprotein convertase subtilisin/kexin type 9 inhibitor, alirocumab (Praluent).

J Clin Lipidol 2017 Nov - Dec;11(6):1485-1487. Epub 2017 Sep 4.

Department of Endocrinology, Walter Reed National Military Medical Center, Bethesda, MD, USA.

Presently there are limited treatment options for hypercholesterolemia in patients with statin intolerance and myotonic dystrophy. A 74 year-old male presented to endocrine clinic with hypercholesterolemia (serum LDL-C 210 mg/dL), hypogonadism, insulin-controlled type 2 diabetes mellitus, and minimally elevated serum creatine kinase (CK) levels (184 U/L, ref. range 38-174). Read More

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http://dx.doi.org/10.1016/j.jacl.2017.08.014DOI Listing
July 2018
4 Reads

The water extract of Liuwei dihuang possesses multi-protective properties on neurons and muscle tissue against deficiency of survival motor neuron protein.

Phytomedicine 2017 Oct 18;34:97-105. Epub 2017 Aug 18.

Department of Pharmacology, College of Medicine, Kaohsiung Medical University, Kaohsiung 80708, Taiwan; Graduate Institute of Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung 80708, Taiwan; Graduate Institute of Natural Products, College of Pharmacy, Kaohsiung Medical University, Kaohsiung 80708, Taiwan. Electronic address:

Background: Deficiency of survival motor neuron (SMN) protein, which is encoded by the SMN1 and SMN2 genes, induces widespread splicing defects mainly in spinal motor neurons, and leads to spinal muscular atrophy (SMA). Currently, there is no effective treatment for SMA. Liuwei dihuang (LWDH), a traditional Chinese herbal formula, possesses multiple therapeutic benefits against various diseases via modulation of the nervous, immune and endocrine systems. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09447113173010
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http://dx.doi.org/10.1016/j.phymed.2017.08.018DOI Listing
October 2017
27 Reads

Connecting the Dots.

N Engl J Med 2017 09;377(10):978-984

From the Department of Medicine (R.P.R., A.P.S., A.A.P., A.B., A.S.D.) and Institute for Health Policy Management and Evaluation (A.S.D.), University of Toronto, and the Department of Medicine, University Health Network and Mount Sinai Hospital (A.A.P., A.B., A.S.D.), Toronto, and the Department of Medicine, University of Ottawa, Ottawa (A.B.) - all in Canada.

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http://www.nejm.org/doi/10.1056/NEJMcps1613804
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http://dx.doi.org/10.1056/NEJMcps1613804DOI Listing
September 2017
22 Reads

Mazabraud syndrome associated with McCune-Albright syndrome: a case report and review of the literature.

Acta Biomed 2017 08 23;88(2):198-200. Epub 2017 Aug 23.

Gaetano Pini-CTO, Milano.

Mazabraud syndrome is a very rare benign disorder characterized by the association of monostotic or polyostotic fibrous dysplasia and one or multiple intramuscular myxomas. McCune -Albright syndrome is a rare benign disorder characterized by the association of polyostotic fibrous dysplasia, cafè-au-lait skin pigmentations and endocrine dysfunction, such as precocious puberty, diabetes mellitus, goiter and breast fibroadenomatosis. The association of Mazabraud syndrome and McCune-Albright in the same patient is an anecdotal event. Read More

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https://www.mattioli1885journals.com/index.php/actabiomedica
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http://dx.doi.org/10.23750/abm.v88i2.5256DOI Listing
August 2017
13 Reads

Advanced Paget disease of bone.

Med J Aust 2017 08;207(4):146

University Hospital Geelong, Geelong, VIC.

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August 2017
3 Reads

Severe hypokalaemia as a cause of acute transient quadriparesis.

BMJ Case Rep 2017 Jul 27;2017. Epub 2017 Jul 27.

Department of Internal Medicine, Regionshospitalet Randers, Randers, Denmark.

Hypokalaemic paralysis covers a heterogeneous group of disorders caused either by an enhanced shift of potassium into the cells or following a significant renal or gastrointestinal loss of potassium. We present the case of a 48-year-old Caucasian man with paralysis of both upper and lower extremities. ECG showed sinus rhythm and characteristic changes of hypokalaemia with depression of the ST segment, prolonged QTc interval of 581ms and U waves seen as a small positive deflection at the T wave in the middle precordial leads. Read More

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http://dx.doi.org/10.1136/bcr-2017-220735DOI Listing
July 2017
4 Reads

The PJ Nicholoff Steroid Protocol for Duchenne and Becker Muscular Dystrophy and Adrenal Suppression.

PLoS Curr 2017 Jun 27;9. Epub 2017 Jun 27.

Complex Care, Nationwide Children's Hospital, Columbus, OH, USA.

Duchenne muscular dystrophy (DMD or Duchenne) is a progressive, life-limiting muscle-wasting disease that requires comprehensive, multidisciplinary care. This care, at minimum, should include neuromuscular, respiratory, cardiac, orthopedic, endocrine and rehabilitative interventions that address both the primary and secondary manifestations of the disease. The care needs of patients evolve over the cdourse of the disease and as they transition from childhood into young adulthood. Read More

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http://dx.doi.org/10.1371/currents.md.d18deef7dac96ed135e0dc8739917b6eDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5505768PMC
June 2017
3 Reads

Central Hemodynamics for Management of Arteriosclerotic Diseases.

J Atheroscler Thromb 2017 Aug 10;24(8):765-778. Epub 2017 Jun 10.

Medical Center, Miyagi University of Education.

Arteriosclerosis, particularly aortosclerosis, is the most critical risk factor associated with cardiovascular, cerebrovascular, and renal diseases. The pulsatile hemodynamics in the central aorta consists of blood pressure, flow, and stiffness and substantially differs from the peripheral hemodynamics in muscular arteries. Arteriosclerotic changes with age appear earlier in the elastic aorta, and age-dependent increases in central pulse pressure are more marked than those apparent from brachial pressure measurement. Read More

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http://dx.doi.org/10.5551/jat.40717DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5556183PMC
August 2017
5 Reads

Gastric Dilatation and Abdominal Compartment Syndrome in a Child with Prader-Willi Syndrome.

Am J Case Rep 2017 Jun 7;18:637-640. Epub 2017 Jun 7.

Department of Paediatric Endocrinology, Parc Tauli Sabadell, Hospital Universitari, Universitat Autònoma de Barcelona, Sabadell, Spain.

BACKGROUND Prader-Willi syndrome (PWS) is a genetic disorder characterized by initial muscular hypotonia and feeding difficulties, and later an insatiable appetite, hyperphagia and obesity along with mild to moderate intellectual impairment. Affected individuals' food-seeking behavior and suspected delayed gastric emptying can lead to gastric dilatation with subsequent necrosis and perforation. CASE REPORT We present the case of a 5-year-old boy diagnosed with Prader-Willi syndrome at neonatal age due to muscular hypotonia, who started growth hormone therapy at 20 months. Read More

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5469321PMC
June 2017
6 Reads

A case of stiff-person syndrome due to secondary adrenal insufficiency.

Rinsho Shinkeigaku 2017 06 26;57(6):298-302. Epub 2017 May 26.

Department of Neurology, Neurological Institute, Graduate School of Medical Sciences, Kyushu University.

We report a case of flexion contractures in a patient's legs secondary to postpartum hypopituitarism. A 56-year-old woman presented with a 3-year history of worsening flexion contractures of the hips and knees. On admission, her hips and knees could not be extended, and she had muscle stiffness and tenderness to palpation of the lower extremities. Read More

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https://www.jstage.jst.go.jp/article/clinicalneurol/57/6/57_
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http://dx.doi.org/10.5692/clinicalneurol.cn-001008DOI Listing
June 2017
11 Reads

Serum levels of adipokines in patients with idiopathic inflammatory myopathies: a pilot study.

Rheumatol Int 2017 Aug 23;37(8):1341-1345. Epub 2017 May 23.

Department of Immunology, Instituto Nacional de Cardiología Ignacio Chávez, Mexico City, Mexico.

Adipokines are cytokines not only regulating metabolic and endocrine activities, but also modulating inflammatory and immune responses in several clinical settings, including autoimmunity. This study was aimed to evaluate whether serum adipokine levels may be useful as markers of disease activity in patients with idiopathic inflammatory myopathies (IIM). Adiponectin, leptin, chemokine C-C motif ligand-2 (CCL2), interleukin (IL)-6, and tumor necrosis factor (TNF) were measured in the serum of all participants. Read More

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http://dx.doi.org/10.1007/s00296-017-3752-zDOI Listing
August 2017
13 Reads

Use of a Central Venous Line for Fluids, Drugs and Nutrient Administration in a Mouse Model of Critical Illness.

J Vis Exp 2017 05 2(123). Epub 2017 May 2.

Clinical Division and Laboratory of Intensive Care Medicine, Department of Cellular and Molecular Medicine, KU Leuven;

This protocol describes a centrally catheterized mouse model of prolonged critical illness. We combine the cecal ligation and puncture method to induce sepsis with the use of a central venous line for fluids, drugs and nutrient administration to mimic the human clinical setting. Critically ill patients require intensive medical support in order to survive. Read More

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http://dx.doi.org/10.3791/55553DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5565154PMC
May 2017
11 Reads

Comparison of the recovery response from high-intensity and high-volume resistance exercise in trained men.

Eur J Appl Physiol 2017 07 26;117(7):1287-1298. Epub 2017 Apr 26.

Sport and Exercise Science, University of Central Florida, Orlando, FL, 32766, USA.

Purpose: The purpose of this study was to compare the physiological responses of a high-volume (HV; 8 sets of 10 repetitions) versus high-intensity (HI; 8 sets of 3 repetitions) exercise protocol in resistance-trained men.

Methods: Twelve men (24.5 ± 4. Read More

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http://link.springer.com/10.1007/s00421-017-3598-9
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http://dx.doi.org/10.1007/s00421-017-3598-9DOI Listing
July 2017
10 Reads

Physical performance in newly diagnosed hypothyroidism: a pilot study.

J Endocrinol Invest 2017 Oct 22;40(10):1099-1106. Epub 2017 Apr 22.

Endocrine Unit, Department of Medicine and Surgery, University of Insubria, ASST dei Sette Laghi, Ospedale di Circolo, Viale Borri, 57, 21100, Varese, Italy.

Objective: Hypothyroidism is complicated by neuromuscular symptoms (myalgias, slowness of movements, and tiredness) and signs (easy fatigability and cramps), which may have a negative impact on general well-being and quality of life. In a pilot, prospective, controlled study, we investigated the features of muscle dysfunction in hypothyroidism by disease questionnaire, biochemical measures, and physical performance tests.

Materials And Methods: Fifty-seven consecutive patients with newly diagnosed hypothyroidism were enrolled, 27 subclinical (S-Hypo) and 30 overt (O-Hypo). Read More

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http://dx.doi.org/10.1007/s40618-017-0661-7DOI Listing
October 2017
1 Read

The effect of high-dose vitamin D supplementation on muscular function and quality of life in postmenopausal women-A randomized controlled trial.

Clin Endocrinol (Oxf) 2017 Jul 11;87(1):20-28. Epub 2017 May 11.

Tromsø Endocrine Research Group, Institute of Clinical Medicine, UiT The Arctic University of Norway, Tromsø, Norway.

Objective: Observational studies have suggested positive associations between serum 25-hydroxyvitamin D (25(OH)D) levels and muscular strength, balance and quality of life. Our aim was to examine whether high-dose vitamin D supplementation would improve these measures as compared to standard-dose vitamin D, as well as the possible muscular effects of single nucleotide polymorphisms (SNPs) in genes encoding vitamin D-related enzymes.

Design: A 12-month randomized, double-blind, controlled trial where the participants received daily elemental calcium (1000 mg) plus vitamin D (800 IU). Read More

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http://dx.doi.org/10.1111/cen.13353DOI Listing

Inherited and Acquired Muscle Weakness: A Moving Target for Diagnostic Muscle Biopsy.

Neuropediatrics 2017 Aug 15;48(4):226-232. Epub 2017 Apr 15.

Friedrich-Baur-Institut, Neurologische Klinik, Klinikum der Universität München, München, Germany.

Inherited and acquired muscular weakness is caused by multiple conditions. While the inherited ones are mostly caused by mutations in genes coding for myopathic or neurogenic diseases, the acquired ones occur due to inflammatory, endocrine, or toxic etiologies. Precise diagnosis of a specific disease may be challenging and may require a multidisciplinary approach. Read More

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http://dx.doi.org/10.1055/s-0037-1601859DOI Listing
August 2017
2 Reads

Study on the morphology, histology and enzymatic activity of the digestive tract of Gymnocypris eckloni Herzenstein.

Fish Physiol Biochem 2017 Aug 7;43(4):1175-1185. Epub 2017 Apr 7.

Chengdu Academy of Agriculture and Forestry Sciences, Chengdu, Sichuan, 611130, China.

The present research was conducted to study the morphology, histology and enzymatic activities of the digestive tract of Gymnocypris eckloni by light and transmission electron microscopes as well as by enzyme assays. The digestive tract of G. eckloni consisted of the oropharyngeal cavity, oesophagus and intestine. Read More

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http://dx.doi.org/10.1007/s10695-017-0363-2DOI Listing
August 2017
14 Reads

Lower Jump Power Rather Than Muscle Mass Itself is Associated with Vertebral Fracture in Community-Dwelling Elderly Korean Women.

Calcif Tissue Int 2017 06 9;100(6):585-594. Epub 2017 Mar 9.

Department of Internal Medicine, Severance Hospital, Endocrine Research Institute, Yonsei University College of Medicine, Seoul, Republic of Korea.

Sarcopenia is considered to be a risk factor for osteoporotic fracture, which is a major health problem in elderly women. In this study, we aimed to investigate the association of sarcopenia, with regard to muscle mass and function, with prevalent vertebral fracture in community-dwelling elderly women. We recruited 1281 women aged 64 to 87 years from the Korean Urban Rural Elderly cohort study. Read More

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http://dx.doi.org/10.1007/s00223-017-0239-6DOI Listing
June 2017
19 Reads

A case of primary aldosteronism caused by unilateral multiple adrenocortical micronodules presenting as muscle cramps at rest: The importance of functional histopathology for identifying a culprit lesion.

Pathol Int 2017 Apr 5;67(4):214-221. Epub 2017 Mar 5.

Department of Diagnostic Pathology, Jichi Medical University Hospital, Shimotsuke, Japan.

Unilateral multiple adrenocortical micronodules (UMNs) constitute a rare subset of primary aldosteronism (PA) characterized by the hypersecretion of aldosterone derived from multiple small nodules in the zona glomerulosa of the unilateral adrenal grand. This case study describes a 49-year-old man with PA and UMNs who presented with muscle cramps at rest due to hypokalemia. The patient had a 6-year history of hypertension treated with antihypertensive drugs. Read More

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http://doi.wiley.com/10.1111/pin.12521
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http://dx.doi.org/10.1111/pin.12521DOI Listing
April 2017
10 Reads

Epigenetic modifications and glucocorticoid sensitivity in Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS).

BMC Med Genomics 2017 02 23;10(1):11. Epub 2017 Feb 23.

Department of Biological Sciences, University of Toronto, Scarborough, 1265 Military Trail, Toronto, ON, M1C 1A4, Canada.

Background: Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is a debilitating idiopathic disease characterized by unexplained fatigue that fails to resolve with sufficient rest. Diagnosis is based on a list of symptoms and exclusion of other fatigue-related health conditions. Despite a heterogeneous patient population, immune and hypothalamic-pituitary-adrenal (HPA) axis function differences, such as enhanced negative feedback to glucocorticoids, are recurring findings in ME/CFS studies. Read More

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http://dx.doi.org/10.1186/s12920-017-0248-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5324230PMC
February 2017
22 Reads

[Mazabraud and McCune-Albright syndromes in association : A case of two very rare orthopaedic tumour entities].

Orthopade 2017 Sep;46(9):776-780

Zentrum für Orthopädie und Unfallchirurgie, Universitätsklinikum Heidelberg, Schlierbacher Landstr. 200a, 69118, Heidelberg, Deutschland.

We report on a 47-year-old woman with unilateral fibrous dysplasia and three intramuscular masses. Medical imaging revealed possible intramuscular myxomas, so that the suspected diagnosis was Mazabraud syndrome. After biopsy, the suspected diagnosis was verified by histology and molecular pathology. Read More

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http://dx.doi.org/10.1007/s00132-017-3399-1DOI Listing
September 2017
9 Reads