- Parent-child communication and timing of interventions are challenges in the Duchenne muscular dystrophy care. [Journal Article]
- APActa Paediatr 2018 Aug 17
- CONCLUSIONS: Our study suggests that professional teams should expand the parental perspective and emphasise a holistic approach in their work with patients with DMD. This article is protected by copyright. All rights reserved.
- DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients. [Journal Article]
- JRJIMD Rep 2018 Aug 17
- Pathogenic mutations in DPAGT1 cause a rare type of a congenital disorder of glycosylation termed DPAGT1-CDG or, alternatively, a milder version with only myasthenia known as DPAGT1-CMS. Fourteen dis...
Pathogenic mutations in DPAGT1 cause a rare type of a congenital disorder of glycosylation termed DPAGT1-CDG or, alternatively, a milder version with only myasthenia known as DPAGT1-CMS. Fourteen disease-causing mutations in 28 patients from 10 families have previously been reported to cause the systemic form, DPAGT1-CDG. We here report on another 11 patients from 8 families and add 10 new mutations. Most patients have a very severe disease course, where common findings are pronounced muscular hypotonia, intractable epilepsy, global developmental delay/intellectual disability, and early death. We also present data on three affected females that are young adults and have a somewhat milder, stable disease. Our findings expand both the molecular and clinical knowledge of previously published data but also widen the phenotypic spectrum of DPAGT1-CDG.
- Pompe Disease: From Basic Science to Therapy. [Review]
- NNeurotherapeutics 2018 Aug 16
- Pompe disease is a rare and deadly muscle disorder. As a clinical entity, the disease has been known for over 75 years. While an optimist might be excited about the advances made during this time, a ...
Pompe disease is a rare and deadly muscle disorder. As a clinical entity, the disease has been known for over 75 years. While an optimist might be excited about the advances made during this time, a pessimist would note that we have yet to find a cure. However, both sides would agree that many findings in basic science-such as the Nobel prize-winning discoveries of glycogen metabolism, the lysosome, and autophagy-have become the foundation of our understanding of Pompe disease. The disease is a glycogen storage disorder, a lysosomal disorder, and an autophagic myopathy. In this review, we will discuss how these past discoveries have guided Pompe research and impacted recent therapeutic developments.
- Referring Service Effect on Muscle Biopsy Diagnosis and Management in Myopathy. [Journal Article]
- CCureus 2018 Jun 13; 10(6):e2800
- Introduction Requests for muscle biopsy for evaluation of myopathy originate from a variety of different specialties. It is unknown whether the specialty of the referring service affects the likeliho...
Introduction Requests for muscle biopsy for evaluation of myopathy originate from a variety of different specialties. It is unknown whether the specialty of the referring service affects the likelihood of diagnostic biopsy or the therapeutic usefulness of a biopsy. Methods We reviewed 106 consecutive muscle biopsies requested by healthcare providers in neurology, rheumatology, family medicine, oncology, and gastroenterology. We tested for an association between referring service and whether the biopsy yielded a definitive pathology result or provided therapeutically useful results. Results Half of the biopsies (49%) returned definitive pathology and 88% of the biopsies provided information that contributed to therapeutic decisions. The diagnostic yield for muscle biopsies referred by different services was not statistically significant (p-value 0.1344) nor was the therapeutic yield statistically significant for muscle biopsies referred by different services (p-value 0.5525). Discussion The specialty of the service that requests a muscle biopsy does not influence the likelihood of obtaining a definitive pathological diagnosis or therapeutically useful information. Other factors may be more important in determining the likelihood of obtaining a clinically useful biopsy result.
- Prevalence and clinical correlates of rheumatoid factor and anticitrullinated protein antibodies in patients with idiopathic inflammatory myopathy. [Journal Article]
- RORMD Open 2018; 4(2):e000661
- CONCLUSIONS: RF and ACPA are prevalent in IIM, although we detected a lower prevalence than reported in previous studies. Presence of these antibodies in patients with IIM patients is not clinically relevant in our cohort.
- "Ictal epileptic headache" and the revised International Headache Classification (ICHD-3) published in Cephalalgia 2018, vol. 38(1) 1-211: Not just a matter of definition! [Editorial]
- EBEpilepsy Behav 2018 Aug 13
- Bartter syndrome-like phenotype in a patient with diabetes: a case report. [Journal Article]
- JMJ Med Case Rep 2018 Aug 17; 12(1):222
- CONCLUSIONS: Patients presenting with body weakness need serum potassium estimation. Acquired Bartter's syndrome although rare, should be ruled out in those with hypokalemia and metabolic alkalosis with increased urinary potassium loss with poor response to potassium replacement.
- Spontaneous Keloids: A Literature Review. [Journal Article]
- DDermatology 2018 Aug 16; :1-4
- CONCLUSIONS: Spontaneous keloids are diagnosed clinically based on the patient's history, and it is challenging to confirm since they might be triggered by minimal injury or inflammation especially if it is a single lesion. Reported syndromes indicate a genetic possibility in the pathogenesis of spontaneous keloids.
- CRAC channels in dental enamel cells. [Review]
- CCCell Calcium 2018 Aug 09; 75:14-20
- Enamel mineralization relies on Ca2+ availability provided by Ca2+ release activated Ca2+ (CRAC) channels. CRAC channels are modulated by the endoplasmic reticulum Ca2+ sensor STIM1 which gates the p...
Enamel mineralization relies on Ca2+ availability provided by Ca2+ release activated Ca2+ (CRAC) channels. CRAC channels are modulated by the endoplasmic reticulum Ca2+ sensor STIM1 which gates the pore subunit of the channel known as ORAI1, found the in plasma membrane, to enable sustained Ca2+ influx. Mutations in the STIM1 and ORAI1 genes result in CRAC channelopathy, an ensemble of diseases including immunodeficiency, muscular hypotonia, ectodermal dysplasia with defects in sweat gland function and abnormal enamel mineralization similar to amelogenesis imperfecta (AI). In some reports, the chief medical complain has been the patient's dental health, highlighting the direct and important link between CRAC channels and enamel. The reported enamel defects are apparent in both the deciduous and in permanent teeth and often require extensive dental treatment to provide the patient with a functional dentition. Among the dental phenotypes observed in the patients, discoloration, increased wear, hypoplasias (thinning of enamel) and chipping has been reported. These findings are not universal in all patients. Here we review the mutations in STIM1 and ORAI1 causing AI-like phenotype, and evaluate the enamel defects in CRAC channel deficient mice. We also provide a brief overview of the role of CRAC channels in other mineralizing systems such as dentine and bone.
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- [Acute respiratory distress revealing antisynthetase syndrome]. [Case Reports]
- RMRev Med Liege 2018; 73(7-8):370-375
- Antisynthetase syndrome is a clinical entity characterized by specific anti-aminoacyl-tRNA-synthetase antibodies usually associated with inflammatory myopathy and interstitial lung disease. The class...
Antisynthetase syndrome is a clinical entity characterized by specific anti-aminoacyl-tRNA-synthetase antibodies usually associated with inflammatory myopathy and interstitial lung disease. The classic presentation of the pathology is the pulmonary interstitium involvment, wich commonly determines the global prognosis. The subsequent diagnosis of antisynthetase syndrome in patients with acute respiratory distress syndrome (ARDS) is unusual, even more so when a veino-veinous (VV) extracorporeal membrane oxygenation (ECMO) is required. This article presents a clinical case of antisynthetase syndrome with severe ARDS successfully treated with immunosuppressive agents and ECMO.