Autoimmune polyendocrinopathy–candidiasis–ectodermal dystrophy (APECED) and esophageal rupture by candida infection: A case report and review

We probably describe the first report of esophageal rupture in a patient with autoimmune polyendocrinopathy - candidiasis - ectodermal dystrophy (APECED, OMIM # 240300), who had candida esophagitis as the main feature for decades. Strong evidence shows that this rupture may have been caused directly and indirectly by chronic candidiasis. In this way, we demonstrate how severe and harmful the persistent esophageal candidiasis can cause in the esophagus, especially in immunodeficient patients.     

从先后天之本初探儿童Duchenn型肌营养不良症病机与证治

儿童Duchenne型肌营养不良症属于遗传性疾病,对于该病的中医病因病机尚无统一的认识。作者认为该病与先天之本肾密切相关,结合小儿脾常不足,肾常虚的生理特点,提出从先后天之本论治该病。确立温补肾气,资助后天;补中益气,颐养先天;兼涤痰化湿,活血通络的治法,以飧同道。     

脂肪基质细胞移植治疗杜氏型肌营养不良的临床观察

目的：观察脂肪基质细胞（ADSCs）移植治疗杜氏型肌营养不良（DMD）前后血清酶学变化及临床效果。方法：选择2009-06～2011-06莱芜市人民医院神经内科DMD患者,其中男性48例,女性3例;年龄1～20岁,平均年龄13.3岁。阳性家族史22例。经莱芜市人民医院伦理委员会同意,并征求患者本人及家人签字同意后,进行自体ADSCs移植治疗,设自身治疗前后血清酶学变化对照方法进行疗效观察,应用四肢肌内注射的方式进行ADSCs移植。结果：ADSCs移植治疗12个月肌力增加者占患者总数的64.8%。血清肌酸激酶（CK）降低率80.4%,血清乳酸脱氢酶（LDH）降低率78.4%。结论：ADSCs移植治疗DMD,对肌肉组织有一定的修复作用,使DMD患者的运动功能得到改善,肌力有所提高,血清酶学较移植前下降。ADSCs移植无不良反应,患者依从性好,是治疗DMD的新手段。     

Responsiveness and Minimal Clinically Important Difference of the Motor Function Measure in Collagen VI-Related Dystrophies and Laminin Alpha2-Related Muscular Dystrophy

ObjectivesTo investigate the responsiveness of the motor function measure (MFM) and determine the minimal clinically important difference (MCID) in individuals with 2 common types of congenital muscular dystrophy (CMD).DesignObservational, prospective, single center, cohort study.SettingNational Institute of Neurological Disorders and Stroke (NINDS) of the National Institutes of Health (NIH).ParticipantsIndividuals (N=44) with collagen VI-related dystrophies (COL6-RD, n=23) and 21 individuals laminin alpha2-related muscular dystrophy (LAMA2-RD, n=21) enrolled in a 4-year longitudinal natural history study.InterventionsNot applicable.Main Outcome MeasuresResponsiveness of the MFM-32 and the Rasch-scaled MFM-25 and the MCID of the MFM-32 determined from a patient-reported anchor with 2 different methods, within-patient and between-patient.ResultsThe original MFM-32 and Rasch-scaled MFM-25 performed similarly overall in both the COL6-RD and LAMA2-RD populations, with all subscores (D1, standing and transfers; D2, axial and proximal; D3, distal) showing a significant decrease over time, except MFM D1 and D3 for LAMA2-RD. The MFM D1 subscore was the most sensitive to change for ambulant individuals, whereas the MFM D2 subscore was the most sensitive to change for nonambulant individuals. The MCID for the MFM-32 total score was calculated as 2.5 and 3.9 percentage points according to 2 different methods.ConclusionsThe MFM showed strong responsiveness in individuals with LAMA2-RD and COL6-RD. Because a floor effect was identified more prominently with the Rasch-Scaled MFM-25, the use of the original MFM-32 as a quantitative variable with the assumption of scale linearity appears to be a good compromise. When designing clinical trials in congenital muscular dystrophies, the use of MCID for MFM should be considered to determine if a given intervention effects show not only a statistically significant change but also a clinically meaningful change.     

Significance of the "Delayed hyperintense portal vein sign" in the hepatobiliary phase MRI obtained with Gd-EOB-DTPA

Purpose:

To identify MRI biomarkers that could be used to follow disease progression and therapeutic efficacy in one individual muscle in patients with myotonic dystrophy type 1 (DM1).

Materials and Methods:

Lower limb MRI and maximal ankle dorsiflexor strength assessment, using a hand‐held dynamometer, were performed in 19 DM1 patients and 6 control subjects. The volume of residual muscle tissue of Tibialis Anterior (TA) muscle was chosen as an index for muscle atrophy, and the T2‐relaxation‐time of the residual muscle tissue was measured to evaluate edema‐like lesions. The fat‐to‐water ratio was assessed using three‐point Dixon images to quantify fat infiltration in the entire muscle.

Results:

The intra‐observer variability of MRI indices (～5.2% for the residual muscle tissue volume and 2.5% for the fat‐to‐water ratio) was lower than that of the dorsiflexor torque measurement (～11.5%). A high correlation (r = 0.91) was found between maximal ankle dorsiflexor strength and residual TA muscle tissue volume in DM1 patients. Increases in the fat‐to‐water ratio and T2‐relaxation‐time were associated with a decrease in maximal ankle dorsiflexor strength.

Conclusion:

MRI appears as a noninvasive method which can be used to follow disease progression and therapeutic efficacy. J. Magn. Reson. Imaging 2012;35:678‐685. © 2011 Wiley Periodicals, Inc.     

Innervation of dystrophic muscle after muscle stem cell therapy

Introduction: Duchenne muscular dystrophy (DMD) is caused by loss of the structural protein, dystrophin, resulting in muscle fragility. Muscle stem cell (MuSC) transplantation is a potential therapy for DMD. It is unknown whether donor‐derived muscle fibers are structurally innervated. Methods: Green fluorescent protein (GFP)–expressing MuSCs were transplanted into the tibials anterior of adult dystrophic mdx/mTR mice. Three weeks later the neuromuscular junction was labeled by immunohistochemistry. Results: The percent overlap between pre‐ and postsynaptic immunolabeling was greater in donor‐derived GFP⁺ myofibers, and fewer GFP⁺ myofibers were identified as denervated compared with control GFP^– fibers (P = 0.001 and 0.03). GFP⁺ fibers also demonstrated acetylcholine receptor fragmentation and expanded endplate area, indicators of muscle reinnervation (P = 0.008 and 0.033). Conclusion: It is unclear whether GFP⁺ fibers are a result of de novo synthesis or fusion with damaged endogenous fibers. Either way, donor‐derived fibers demonstrate clear histological innervation. Muscle Nerve 54 : 763–768, 2016     

Autosomal-dominant Leber Congenital Amaurosis Caused by a Heterozygous CRX Mutation in a Father and Son

Background: Leber congenital amaurosis (LCA) is most often an autosomal recessive disorder. We report a father and son with autosomal dominant LCA due to a mutation in the CRX gene.

Materials and Methods: DNA screening using an allele specific assay of 90 of the most common LCA-causing variations in the coding sequences of AIPL1, CEP290, CRB1, CRX, GUCY2D, RDH12 and RPE65 was performed on the father. Automated DNA sequencing of his son examining exon 3 of the CRX gene was subsequently performed.

Results: Both father and son have a heterozygous single base pair deletion of an adenine at codon 153 in the coding sequence of the CRX gene resulting in a frameshift mutation.

Conclusion: Mutations involving the CRX gene may demonstrate an autosomal dominant inheritance pattern for LCA.