A "Triple Trouble" Case of Facioscapulohumeral Muscular Dystrophy Accompanied by Peripheral Neuropathy and Myoclonic Epilepsy / 中华医学杂志(英文版)

<p><b>Background</b>Facioscapulohumeral muscular dystrophy (FSHD) is characterized by asymmetric muscular deficit of facial, shoulder-girdle muscles, and descending to lower limb muscles, but it exists in several extramuscular manifestations or overlapping syndromes. Herein, we report a "complex disease plus" patient with FSHD1, accompanied by peripheral neuropathy and myoclonic epilepsy.</p><p><b>Methods</b>Standard clinical assessments, particular auxiliary examination, histological analysis, and molecular analysis were performed through the new Comprehensive Clinical Evaluation Form, pulsed-field gel electrophoresis-based Southern blot, Multiplex Ligation-dependent Probe Amplification (MLPA), whole exome sequencing (WES), and targeted methylation sequencing.</p><p><b>Results</b>The patient presented with mild facial weakness, humeral poly-hill sign, scapular winging, peroneal weakness, drop foot, pes cavus, and myoclonic epilepsy. Furthermore, electrophysiology revealed severely demyelinated and axonal injury. The muscle and nerve biopsy revealed broadly fiber Type II grouping atrophy and myelinated nerve fibers that significantly decreased with thin myelinated fibers and onion bulbs changes. Generalized sharp and sharp-slow wave complexes on electroencephalography support the diagnosis toward myoclonic epilepsy. In addition, molecular testing demonstrated a co-segregated 20-kb 4q35-EcoRI fragment and permissive allele A, which corresponded with D4Z4 hypomethylation status in the family. Both the patient's mother and brother only presented the typical FSHD but lacked overlapping syndromes. However, no mutations for hereditary peripheral neuropathy and myoclonic epilepsy were discovered by MLPA and WES.</p><p><b>Conclusions</b>The present study described a "tripe trouble" with FSHD, peripheral neuropathy, and myoclonic epilepsy, adding the spectrum of overlapping syndromes and contributing to the credible diagnosis of atypical phenotype. It would provide a direct clue on medical care and genetic counseling.</p>

Three different strategies of urine drainage following hypospadias surgery: clinical nursing and observation / 中华男科学杂志

<p><b>OBJECTIVE</b>To study 3 different strategies of urine drainage following hypospadias urethroplasty, the clinical nursing in their application, and their effects.</p><p><b>METHODS</b>We retrospectively analyzed the clinical data of 595 cases of hypospadias treated by urethroplasty. After surgery, 133 of the patients underwent urine drainage by suprapubic cystostomy (group A), 202 by urethral stent- tube indwelling (group B), and 260 by early initiative micturition with the urethral stent-tube (group C). All the patients received routine postoperative nursing care required for hypospadias repair.</p><p><b>RESULTS</b>Operations were successfully completed in all the cases. Group C showed a remarkably shorter hospital stay and lower incidence rates of urinary fistula and urethral stricture than groups A and B (P<0.05), but there were no significant differences in the three indexes between A and B (P<0.05).</p><p><b>CONCLUSION</b>For urine drainage following hypospadias repair, early initiative micturition with the urethral stent-tube can significantly reduce postoperative complications, decrease difficulties and workload of nursing care, and shorten the hospital stay of the patient.</p>

Intensity-modulated or 3-D conformal radiotherapy combined with chemotherapy with docetaxel and cisplatin for locally advanced esophageal carcinoma / 南方医科大学学报

<p><b>OBJECTIVE</b>To evaluate the therapeutic effect and toxicity of intensity-modulated radiation therapy (IMRT) or three-dimensional conformal radiotherapy combined with chemotherapy (3-DCRT) with docetaxel and cisplatin in the treatment of locally advanced esophageal carcinoma.</p><p><b>METHODS</b>Sixty patients with locally advanced esophageal carcinoma were randomly assigned in two equal groups to receive IMRT or 3-DCRT, both combined with the chemotherapy with docetaxel and cisplatin. The total dose of radiotherapy was 64 Gy, administered in 30 fractions in 6 weeks.</p><p><b>RESULTS</b>The complete response rate (complete and partial remissions) of IMRT group was 90.0%, significantly higher than the rate of 80.0% in 3-DCRT group (P>0.05). The 1-, 2-, and 3-year survival rates of IMRT group were 86.7%, 70.0%, and 66.7%, as compared to 70.0%, 63.3%, and 63.3% in 3-DCRT group, respectively, showing no significant differences between the two groups (P>0.05). IMRT showed advantages over 3-DCRT in terms of the V20 and V30 parameters of the lung (P<0.05), and the incidences of radiation-induced esophagitis were comparable between the two groups (P>0.05).</p><p><b>CONCLUSION</b>When combined with the chemotherapy with docetaxel and cisplatin, IMRT appears to be a more effective treatment than 3-DCRT for locally advanced esophageal cancer.</p>