Objective To establish a specific detection technique in patients with Duchenne muscular dystrophy (DMD),Becker muscular dystrophy (BMD) and limb-girdle muscular dystrophy (LGMD). Methods Immunofluorescent technique was applied,and 4 monoclonal antibodies against dystrophin,?-sarcoglycan (?-SG) and ?-sarcoglycan (?-SG) were respectively used.Results Dystrophin was negative in 9 DMD patients,and partially absent in 4 BMD patients. In two LGMD patients,50DAG was diminished in one patient and 35DAG was diminished in the other. Therefore,the two patients were diagnosed as having LGMD2D and LGMD2C respectively. Conclusion Analysing gene product expressed on surface membrane of muscle fiber is helpful to diagnose and classify the DMD/BMD,and LGMD diseases by using immunofluorescent technique.

OBJECTIVETo identify an inbred Chinese pedigree with autosomal recessive muscular dystrophy and analyze the molecular defects.

METHODSLinkage analysis was conducted using short tandem repeat(STR) markers from the regions associated with limb-girdle muscular dystrophy type 2A(LGMD2A) through 2H. Multi-Western blot was performed with anti-calpain-3, anti-dysferlin, anti-gamma-sarcoglycan, anti-alpha-sarcoglycan, and anti-dystrophin monoclonal antibodies. Mutation was determined by reverse transcriptase-polymerase chain reaction and sequencing.

RESULTSTwo-point linkage analysis showed significant Lod scores with markers from chromosome 2p13, the highest two-point Lod scores were obtained with D2S337 (Z(max)=1.86 at theta=0). Multi-Western blot confirmed dysferlin deficiency of muscle specimen from the proband. Mutation analysis revealed a novel 6429delG mutation on exon 53 of the DYSF gene for the proband.

CONCLUSIONThe authors identified an inbred Chinese pedigree with Miyoshi myopathy caused by a 6429delG on the DYSF gene. This mutation is predicted to result in premature termination of translation.

DNA, Complementary ; chemistry ; Dysferlin ; Genetic Linkage ; Humans ; Male ; Membrane Proteins ; genetics ; Middle Aged ; Muscle Proteins ; genetics ; Muscular Diseases ; genetics ; Muscular Dystrophies ; genetics ; Mutation ; Pedigree

Objective:To evaluate the efficacy of proximal humerus internal locking system (PHILOS) via the minimally invasive plate osteosynthesis (MIPO) in the treatment of proximal humeral fractures.Methods:This retrospective study analyzed 30 elderly patients with proximal humeral fracture who had been treated by PHILOS via MIPO from September 2016 to March 2020 at Department of Orthopedic Surgery, People’s Hospital of Zhuxi County. They were 19 females and 11 males with an average age of 60.96 years (from 45 to 80 years). All patients were treated by closed reduction. After fracture reduction was confirmed by fluoroscopy, a minimally invasive incision was made below the acromion, with a couple of suture wires reserved at the rotator cuff attachments. A PHILOS plate was inserted at 4 mm lateral to the intertubercular sulcus, with the suture wires passing through the proximal suture holes on the PHILOS. After a lag screw was first screwed up into the compression hole on the PHILOS plate, the crossing suture wires were tightened up to resist the rotator cuff stress and maintain the internal inclination of the humeral head. Kirschner wires were used to temporarily stabilize the reduction. After satisfactory reduction and fine plate positions were confirmed by fluoroscopy, locking nails were screwed up. The internal inclination of the affected humeral head was compared between preoperation and the last follow-up. The therapeutic efficacy was evaluated by the shoulder Neer scoring system, and the visual analogue scale (VAS) pain scores and complications were recorded at the last follow-up.Results:All the 30 patients were followed for 6 to 18 months (average, 12 months). There was no incision infection, neurovascular injury, or internal fixation failure. Anatomical reduction was achieved in 25 patients and functional reduction in 5. The inclination of the humeral head was significantly improved. The VAS scores at the last follow-up averaged 1.9. Follow-up X-ray examination showed that bony union was achieved after 6 to 18 months (average, 9 months) for all patients. At the last follow-up, the inclination angle of the affected humeral head was 130°±5°, significantly improved compared with the preoperative 90°±11.2° ( P<0.05). All patients had good functional recovery of the shoulder. The efficacy was, according to the Neer shoulder scores at the last follow-up, excellent in 22, good in 6 and fair in 2 cases. Conclusions:Treatment of proximal humeral fractures using PHILOS via MIPO technique is suitable for patients with osteoporotic fracture, and may lead to fine therapeutic efficacy.