- Cannabis for vismodegib-related muscle cramps in a patient with advanced basal cell carcinoma. [Letter]
- JPJ Pain Symptom Manage 2018 Feb 15
- Health technology assessment of magnet therapy for relieving pain. [Journal Article]
- MJMed J Islam Repub Iran 2017; 31:31
- Background: Magnet therapy has been used increasingly as a new method to alleviate pain. Magnetic products are marketed with claims of effectiveness for reducing pain of various o...
Background: Magnet therapy has been used increasingly as a new method to alleviate pain. Magnetic products are marketed with claims of effectiveness for reducing pain of various origins. However, there are inconsistent results from a limited number of randomized controlled trials (RCTs) testing the analgesic efficacy of magnet therapy. This study aimed to evaluate the safety and effectiveness of magnet therapy on reliving various types of pain.Methods:A systematic search of two main medical databases (Cochrane Library and Ovid Medline) was conducted from 1946 to May 2014. Only English systematic reviews that compared magnet therapy with other conventional treatments in patients with local pain in terms of pain relieving measures were included. The results of the included studies were thematically synthesized.Results:Eight studies were included. Magnet therapy could be used to alleviate pain of various origins including pain in various organs, arthritis, myofascial muscle pain, lower limb muscle cramps, carpal tunnel syndrome and pelvic pain. Results showed that the effectiveness of magnetic therapy was only approved in muscle pains, but its effectiveness in other indications and its application as a complementary treatment have not been established.Conclusion:According to the results, it seems that magnet therapy could not be an effective treatment for relieving different types of pain. Our results highlighted the need for further investigations to be done in order to support any recommendations about this technology.
- Rapid whole genome sequencing identifies a novel AIRE variant associated with Autoimmune Polyendocrine Syndrome Type 1. [Journal Article]
- CSCold Spring Harb Mol Case Stud 2018 Feb 01
- Autoimmune polyendocrine syndrome type 1 (APS1; OMIM #240300), also referred to as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a rare monogenic disorder caused by muta...
Autoimmune polyendocrine syndrome type 1 (APS1; OMIM #240300), also referred to as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED), is a rare monogenic disorder caused by mutations in the autoimmune regulator (AIRE) gene. APS1 is classically characterized by a triad of chronic mucocutaneous candidiasis, autoimmune hypoparathyroidism, and autoimmune adrenocortical insufficiency. We report a five-year-old female who presented with symptoms of tetany due to hypocalcemia and was subsequently found to be secondary to hypoparathyroidism. Rapid trio whole genome sequencing revealed compound heterozygous variants in AIRE in the proband, with a paternally inherited pathogenic frameshift variant (c.1265delC; p.Pro422LeufsTer58) and a novel likely pathogenic maternally inherited missense variant (c.268T>C; p.Tyr90His) .
- The significance of pain in chronic venous disease and its medical treatment. [Journal Article]
- CVCurr Vasc Pharmacol 2018 Feb 08
- Chronic venous disease (CVeD) is a highly prevalent condition in the general population, and it has a significant impact on quality of life. While it is usually manifested by obvious signs, such as v...
Chronic venous disease (CVeD) is a highly prevalent condition in the general population, and it has a significant impact on quality of life. While it is usually manifested by obvious signs, such as varicose veins and venous ulcers, other symptoms of the disease are less specific. Among the other symptoms, which include heaviness, swelling, muscle cramps and restless legs, pain is the symptom that most frequently compels CVeD patients to seek medical aid. However, there is a substantial discrepancy between pain severity and clinically detectable signs of CVeD, questioned by several opposing studies. Further evaluation is needed to clarify this subject, and to analyse whether pain development predicts objective CVeD progression. General management of CVeD starts with advising lifestyle changes, such as lowering body mass index and treating comorbidities. However, the mainstay of treatment is compression therapy, with the additional use of pharmacological substances. Venoactive drugs proved to be the drugs of choice for symptom alleviation and slowing the progression of CVeD, with micronized purified flavonoid fraction being the most effective one. Interventional therapy is reserved for advanced stages of the disease.
- [Clinical features of patients with Becker muscular dystrophy and deletions of the rod domain of dystrophin gene]. [Journal Article]
- ZYZhonghua Yi Xue Yi Chuan Xue Za Zhi 2018 Feb 10; 35(1):14-17
- CONCLUSIONS: Compared with DMD, the clinical features of BMD are much more variable, particularly for those carrying deletions of the rod domain of the dystrophin gene. Muscular weakness may not be the sole complaint of BMD. The diagnosis of BMD cannot be excluded by moderately elevated CK. For male patients with dilated cardiomyopathy, the possibility of BMD should be considered.
- Disease-modifying and symptomatic treatment of amyotrophic lateral sclerosis. [Review]
- TATher Adv Neurol Disord 2018; 11:1756285617734734
- In this review, we summarize the most important recent developments in the treatment of amyotrophic lateral sclerosis (ALS). In terms of disease-modifying treatment options, several drugs such as dex...
In this review, we summarize the most important recent developments in the treatment of amyotrophic lateral sclerosis (ALS). In terms of disease-modifying treatment options, several drugs such as dexpramipexole, pioglitazone, lithium, and many others have been tested in large multicenter trials, albeit with disappointing results. Therefore, riluzole remains the only directly disease-modifying drug. In addition, we discuss antisense oligonucleotides (ASOs) as a new and potentially causal treatment option. Progress in symptomatic treatments has been more important. Nutrition and ventilation are now an important focus of ALS therapy. Several studies have firmly established that noninvasive ventilation improves patients' quality of life and prolongs survival. On the other hand, there is still no consensus regarding best nutritional management, but big multicenter trials addressing this issue are currently ongoing. Evidence regarding secondary symptoms like spasticity, muscle cramps or sialorrhea remains generally scarce, but some new insights will also be discussed. Growing evidence suggests that multidisciplinary care in specialized clinics improves survival.
- The Value of Genetic Testing in Polycystic Kidney Diseases Illustrated by a Family With PKD2 and COL4A1 Mutations. [Journal Article]
- AJAm J Kidney Dis 2018 Jan 27
- The diagnosis of autosomal dominant polycystic kidney disease (ADPKD) relies on imaging criteria in the setting of a positive familial history. Molecular analysis, seldom used in clinical practice, i...
The diagnosis of autosomal dominant polycystic kidney disease (ADPKD) relies on imaging criteria in the setting of a positive familial history. Molecular analysis, seldom used in clinical practice, identifies a causative mutation in >90% of cases in the genes PKD1, PKD2, or rarely GANAB. We report the clinical and genetic dissection of a 7-generation pedigree, resulting in the diagnosis of 2 different cystic disorders. Using targeted next-generation sequencing of 65 candidate genes in a patient with an ADPKD-like phenotype who lacked the familial PKD2 mutation, we identified a COL4A1 mutation (p.Gln247*) and made the diagnosis of HANAC (hereditary angiopathy with nephropathy, aneurysms, and muscle cramps) syndrome. While 4 individuals had ADPKD-PKD2, various COL4A1-related phenotypes were identified in 5 patients, and 3 individuals with likely digenic PKD2/COL4A1 disease reached end-stage renal disease at around 50 years of age, significantly earlier than observed for either monogenic disorder. Thus, using targeted next-generation sequencing as part of the diagnostic approach in patients with cystic diseases provides differential diagnoses and identifies factors underlying disease variability. As specific therapies are rapidly developing for ADPKD, a precise etiologic diagnosis should be paramount for inclusion in therapeutic trials and optimal patient management.
- A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome pedigree. [Journal Article]
- BMBMC Med Genet 2018 Jan 29; 19(1):17
- CONCLUSIONS: This is the first report of these two novel pathogenic variants of SLC12A3 and their contribution to GS. Further functional studies are particularly warranted to explore the underlying molecular mechanisms.
- Muscle Cramps Do Not Improve With Correction of Vitamin D Insufficiency. [Journal Article]
- WMJWMJ 2017; 116(5):200-204
- CONCLUSIONS: Further studies are needed to evaluate the link between pain, disability, dietary potassium intake, and muscle cramps.
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- Atypical Initial Presentation of Painful Muscle Cramps in a Patient with Amyotrophic Lateral Sclerosis: A Case Report and Brief Review of the Literature. [Journal Article]
- CCureus 2017 Nov 10; 9(11):e1837
- Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized clinically by progressive muscle weakness that can occur proximally or distally in either the upper or lower extremit...
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized clinically by progressive muscle weakness that can occur proximally or distally in either the upper or lower extremities. It includes both upper motor neuron signs (spasticity, hyperreflexia, clonus, and Babinski sign) and lower motor neuron signs (atrophy, weakness, and muscle fasciculation). Initial presentation of progressively painful muscle cramps should lead the physician to screen for other signs of amyotrophic lateral sclerosis. We report the case of a 51-year-old male, who presented with dull muscle cramps in the right upper shoulder and arm. After a careful history and physical exam, it was found that patient had both upper and lower motor neuron signs; therefore, a diagnosis of amyotrophic lateral sclerosis was made. Amyotrophic lateral sclerosis should strongly be considered in the differential diagnosis of patients presenting with an atypical initial presentation of progressively painful muscle cramps.