1,791 results match your criteria Endocrine Myopathies


Exercise-Induced Myokines With Therapeutic Potential for Muscle Wasting.

Front Physiol 2019 29;10:287. Epub 2019 Mar 29.

Department of Neurosciences, Mario Negri Institute for Pharmacological Research IRCCS, Milan, Italy.

Skeletal muscle is a highly vascularized tissue that can secrete proteins called myokines. These muscle-secreted factors exert biological functions in muscle itself (autocrine effect) or on short- or long-distant organs (paracrine/endocrine effects) and control processes such as metabolism, angiogenesis, or inflammation. Widely differing diseases ranging from genetic myopathies to cancers are emerging as causing dysregulated secretion of myokines from skeletal muscles. Read More

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http://dx.doi.org/10.3389/fphys.2019.00287DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6449478PMC
March 2019
1 Read

Fibroblast growth factor 21 controls mitophagy and muscle mass.

J Cachexia Sarcopenia Muscle 2019 Mar 20. Epub 2019 Mar 20.

Venetian Institute of Molecular Medicine, Via Orus 2, 35129, Padova, Italy.

Background: Skeletal muscle is a plastic tissue that adapts to changes in exercise, nutrition, and stress by secreting myokines and myometabolites. These muscle-secreted factors have autocrine, paracrine, and endocrine effects, contributing to whole body homeostasis. Muscle dysfunction in aging sarcopenia, cancer cachexia, and diabetes is tightly correlated with the disruption of the physiological homeostasis at the whole body level. Read More

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http://dx.doi.org/10.1002/jcsm.12409DOI Listing
March 2019
1 Read

[Effectiveness of a Low-dose Corticosteroid in a Patient with Polymyalgia Rheumatica Associated with Nivolumab Treatment].

Yakugaku Zasshi 2019 ;139(3):491-495

Department of Hospital Pharmacy, Kansai Medical University.

Nivolumab, an anti-programmed cell death 1 antibody, has been approved for the treatment of unresectable advanced non-small-cell lung cancer (NSCLC). Although immune-related adverse events (irAEs) such as dermatologic, digestive, endocrine, hepatic, and pulmonary toxicities are known to occur upon administration of immune checkpoint inhibitors, case reports of polymyalgia rheumatica (PMR) associated with nivolumab use are rare. We report a case of an NSCLC patient who developed PMR during treatment with nivolumab and received corticosteroids. Read More

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http://dx.doi.org/10.1248/yakushi.18-00161DOI Listing
March 2019
1 Read

The expression profile of p14, p53 and p21 in tumour cells is associated with disease-specific survival and the outcome of postoperative chemotherapy treatment in muscle-invasive bladder cancer.

Urol Oncol 2018 12 24;36(12):530.e7-530.e18. Epub 2018 Oct 24.

Department of Pathology and Department of Clinical and Experimental Medicine, Medical Faculty, Linköping University, SE 581 85, Linköping, Sweden.

Purpose: We investigated the effects of alterations in the biological markers p14, p53, p21, and p16 in relation to tumour cell proliferation, T-category, N- category, lymphovascular invasion, and the ability to predict prognosis in patients with muscle-invasive bladder cancer (MIBC) treated with cystectomy and, if applicable, chemotherapy.

Materials And Methods: We prospectively studied patients with urinary bladder cancer pathological stage pT1 to pT4 treated with cystectomy, pelvic lymph node dissection and postoperative chemotherapy. Tissue microarrays from paraffin-embedded cystectomy tumour samples were examined for expression of immunostaining of p14, p53, p21, p16 and Ki-67 in relation to other clinical and pathological factors as well as cancer-specific survival. Read More

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http://dx.doi.org/10.1016/j.urolonc.2018.05.025DOI Listing
December 2018
5 Reads
2.768 Impact Factor

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
23 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
17 Reads

Myotonic Dystrophies: Targeting Therapies for Multisystem Disease.

Neurotherapeutics 2018 10;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
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277298PMC
October 2018
34 Reads

Thyrotoxic hypokalemic periodic paralysis: a life-threatening disorder in Asian men.

Trop Doct 2019 Jan 10;49(1):49-51. Epub 2018 Oct 10.

2 Professor, Department of Internal Medicine, Post Graduate Institute of Medical Education and Research, Chandigarh, India.

Thyrotoxicosis can present as a sporadic form of hypokalaemic periodic paralysis. The condition is associated with massive intracellular shift of potassium, mainly in skeletal muscles. As the total body stores of potassium remain normal, overzealous potassium supplementation targeting serum potassium level results in a poor outcome. Read More

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http://dx.doi.org/10.1177/0049475518803251DOI Listing
January 2019
6 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
20 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
February 2019
4 Reads

[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
10 Reads

Bone Health and Endocrine Care of Boys with Duchenne Muscular Dystrophy: Data from the MD STARnet.

J Neuromuscul Dis 2018 ;5(4):497-507

University of Rochester School of Medicine and Dentistry, Rochester, NY, USA.

Background: Patients with Duchenne muscular dystrophy (DMD) are at high risk of endocrine and bone health complications resulting from the high glucocorticoid (GC) doses used to treat this condition. There are limited data characterizing the clinical management of these complications.

Objective: To determine the frequency of bone health screening, endocrinologist evaluation, and use of endocrine and bone health pharmacotherapy in the clinical care of males with DMD. Read More

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http://dx.doi.org/10.3233/JND-180317DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6277257PMC
January 2019
5 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

Extrathyroidal Extension: Does Strap Muscle Invasion Alone Influence Recurrence and Survival in Patients with Differentiated Thyroid Cancer?

Ann Surg Oncol 2018 Oct 18;25(11):3380-3388. Epub 2018 Jul 18.

Division of Surgery, Department of Head and Neck Surgery, Unit 1445, The University of Texas MD Anderson Cancer Center, Houston, TX, USA.

Background: According to the 8th edition American Joint Committee on Cancer staging system, extrathyroidal extension (ETE) and primary tumor size remain the principle determinants of T stage. However, impact of gross ETE into strap muscles on survival remains controversial.

Patients And Methods: A retrospective review of 2084 patients with ≤ 4 cm nonmetastatic differentiated thyroid cancer who underwent surgery between 2000 and 2015 was conducted. Read More

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http://dx.doi.org/10.1245/s10434-018-6563-xDOI Listing
October 2018
12 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
3 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
4 Reads

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
8 Reads

Novel Factors Associated With Analgesic and Anti-inflammatory Medication Use in Distance Runners: Pre-race Screening Among 76 654 Race Entrants-SAFER Study VI.

Clin J Sport Med 2018 09;28(5):427-434

International Olympic Committee (IOC) Research Centre, Pretoria, South Africa.

Objective: Analgesic/anti-inflammatory medication (AAIM) increases the risk of medical complications during endurance races. We determined how many runners use AAIM before or during races, AAIM types, and factors associated with AAIM use.

Design: Cross-sectional study. Read More

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http://Insights.ovid.com/crossref?an=00042752-900000000-9916
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http://dx.doi.org/10.1097/JSM.0000000000000619DOI Listing
September 2018
24 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
2 Reads

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
5 Reads

Transcriptional profiling reveals extraordinary diversity among skeletal muscle tissues.

Elife 2018 05 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
20 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
6 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
4 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
7 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
12 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
5 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
2 Reads

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
38 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
6 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
63 Reads

Peyronie's disease and Dupuytren's contracture secondary to topical timolol.

Int Ophthalmol 2019 Mar 8;39(3):683-685. Epub 2018 Feb 8.

Conquest Hospital Eye Clinic, Conquest Hospital, The Ridge, St Leonards-on-Sea, TN37 7RD, UK.

Introduction: Topical beta-blockers are a proven and safe medication used in the treatment of glaucoma and ocular hypertension. Local and systemic side effects are, however, well documented. Systemic side effects can include severe cardio-respiratory impairment, endocrine dysfunction, as well as headache and hyper-somnolence. Read More

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http://dx.doi.org/10.1007/s10792-018-0837-yDOI Listing
March 2019
4 Reads

Diagnosis and management of Duchenne muscular dystrophy, part 1: diagnosis, and neuromuscular, rehabilitation, endocrine, and gastrointestinal and nutritional management.

Lancet Neurol 2018 03 3;17(3):251-267. Epub 2018 Feb 3.

Division of Endocrinology and Diabetes, Golisano Children's Hospital, University of Rochester Medical Center, Rochester, NY, USA.

Since the publication of the Duchenne muscular dystrophy (DMD) care considerations in 2010, multidisciplinary care of this severe, progressive neuromuscular disease has evolved. In conjunction with improved patient survival, a shift to more anticipatory diagnostic and therapeutic strategies has occurred, with a renewed focus on patient quality of life. In 2014, a steering committee of experts from a wide range of disciplines was established to update the 2010 DMD care considerations, with the goal of improving patient care. Read More

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http://dx.doi.org/10.1016/S1474-4422(18)30024-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5869704PMC
March 2018
20 Reads

Effect of Aromatase Inhibitor Therapy on Sleep and Activity Patterns in Early-stage Breast Cancer.

Clin Breast Cancer 2018 04 27;18(2):168-174.e2. Epub 2017 Dec 27.

Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, MI. Electronic address:

Introduction: Adherence to aromatase inhibitor (AI) therapy is poor, often because of treatment-emergent side effects, including musculoskeletal symptoms, fatigue, and insomnia. In the present analysis, we examined the sleep patterns and daytime function both objectively using actigraphy and subjectively using validated questionnaires in women initiating AI therapy.

Patients And Methods: Postmenopausal women with stage 0-III hormone receptor-positive breast cancer who were initiating AI therapy were eligible. Read More

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http://dx.doi.org/10.1016/j.clbc.2017.12.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6203440PMC
April 2018
3 Reads

Three patients with Schaaf-Yang syndrome exhibiting arthrogryposis and endocrinological abnormalities.

Am J Med Genet A 2018 03 23;176(3):707-711. Epub 2018 Jan 23.

Department of Pediatrics, Kindai University Faculty of Medicine, Osaka, Japan.

MAGEL2 is the paternally expressed gene within Prader-Willi syndrome critical region at 15q11.2. We encountered three individuals in whom truncating mutations of MAGEL2 were identified. Read More

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http://dx.doi.org/10.1002/ajmg.a.38606DOI Listing
March 2018
6 Reads
2.160 Impact Factor

[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
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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
5 Reads

Cortisol and Subjective Stress Responses to Acute Psychosocial Stress in Fibromyalgia Patients and Control Participants.

Psychosom Med 2018 04;80(3):317-326

From the Faculty of Psychology and Educational Sciences (Coppens, Kempke, Luyten), University of Leuven; Departments of Psychiatry (Coppens, Claes) and Physical Medicine and Rehabilitation (Van Wambeke), The Leuven Centre for Algology & Pain Management (Coppens, Van Wambeke, Morlion), Department of Anesthesiology and Algology (Morlion), University Hospitals Leuven, University of Leuven, Belgium; Research Department of Clinical, Educational and Health Psychology (Luyten), University College London, United Kingdom; Translational Research Center for Gastrointestinal Disorders (TARGID) (Van Oudenhove), Department of Chronic Diseases, Metabolism, and Ageing, University of Leuven; and Consultation-Liaison Psychiatry (Van Oudenhove), University Hospitals Leuven, Belgium.

Objective: Hypothalamic-pituitary-adrenal axis dysfunction may play a role in fibromyalgia (FM) pathogenesis but it remains understudied in this disorder. Furthermore, early childhood adversities (ECA) are common in FM, but whether they moderate stress reactivity is unknown. Hence, we investigated cortisol and subjective responses to acute psychosocial stress in FM and controls, while adjusting for ECA. Read More

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http://dx.doi.org/10.1097/PSY.0000000000000551DOI Listing
April 2018
33 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
16 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
12 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
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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
13 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
6 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
5 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
40 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
28 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
16 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
5 Reads

Utrophin Compensates dystrophin Loss during Mouse Spermatogenesis.

Sci Rep 2017 08 7;7(1):7372. Epub 2017 Aug 7.

Institute of Biomedical Sciences, Academia Sinica, Taipei, 115, Taiwan.

Duchenne muscular dystrophy (DMD) is an X-linked genetic disorder resulting from mutations in the dystrophin gene. The mdx/utrn mouse, lacking in both dystrophin and its autosomal homologue utrophin, is commonly used to model the clinical symptoms of DMD. Interestingly, these mice are infertile but the mechanisms underlying this phenomenon remain unclear. Read More

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http://dx.doi.org/10.1038/s41598-017-05993-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5547154PMC
August 2017
8 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
8 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
4 Reads