To evaluate an improved treatment of an autologous fat injection for hemifacial atrophy to increase the survival rate of the fat graft and decrease complications including colliquation, necrosis, and absorption of the graft fat. Methods From March 1999 to October 2004, 31 patients with hemifacial atrophy underwent an improved treatment by an autologous fat injection for their diseases. There were 12 males and 19 females aged 1928 years (average, 23.5 years). The patients were divided into the following 3 groups according to the atrophy extent: the mild group (n=9), the moderate group (n=19), and the severe group (n=3). Based on the previous researches on the fat transplantation techniques, the improved treatment combined the following strategies that were simply called “3L3M”: low position for the fat donation, low pressure for the fat harvesting, and lowspeed centrifugation for purification of the fat; multipoint, multitunnel, and multiplane for injections of the fat graft. The preoperative and the postoperative photos were taken and the findings were compared to make clear whether the hard and firm masses and cysts existed; then, the decision was made about whether the patients needed another operation according to whether the patients had a natural facial expression and whether the patients had comfortable feelings as well as the ray findings. Results All the patients had a satisfactory symmetrical face after 1 injection of the fat in 15 patients, 2 injections in 13 patients, and 3 injections in 3 patients. The effect of the 3rd injection was better than that of the 2nd injection; the effect of the 2nd injection was better than that of the 1st injection; the fat volume for the injection could be gradually decreased. The fat volumes for injections were as follows: 814 ml (average, 11 ml) in the submaxillary region, 1525 ml (average, 20 ml) in the buccal region, 510 ml (average, 75 ml) in the zygomatic region, and 1820 ml (average, 19 ml) in the forehead region. The followup for 35 years revealed that there wasno infection, hard and firm mass, cyst or other complications. The pigmentationin the affected face was significantly improved. Conclusion Compared with the traditional treatments, the improved treatment of an autologousfat injection for hemifacial atrophy can achieve a satisfactory symmetry of theface with no injury to the donor site or complications in the recipient site. This improved method is an ideal treatment for hemifacial atrophy.
Objective To investigate the effect of exogenous erythropoietin (EPO) on the denervated muscle atrophy. Methods Twenty-four SD male rats, weighting 200-220 g were made the models of denervated gastrocnemius muscle after sciatic nerves were transected under the piriform muscle at the right lower leg, and were randomly divided into two groups (n=12). rhEPO (2 500 U/kg) was injected daily into the denervated gastrocnemius muscle in EPO group, and normal sal ine was injected into the denervated gastrocnemius muscle in control group. To observe the general state of health of the experimental animal, the muscle wet weight, the muscle cell diameter, the cross section area, the protein amount, thepercentage of the apoptotic muscle cells, and the Na+-K+-ATPase and Ca2+-ATPase activities were measured 2 and 4 weeks after operation. Results All experimental animals were survived during experiment without cut infection, and all animals could walk with pull ing the right knee. At 4 weeks after operation, 7 cases showed ulcer in the right heel, inculding 5 in the control group and 2 in the EPO group. At 2 and 4 weeks after operation, the muscle wet weight in EPO group was (885.59 ± 112.35) and (697.62 ± 94.74) g, respectively; in control group, it was (760.63 ± 109.05) and (458.71 ± 58.76) g, respectively; indicating significant differences between two groups (P lt; 0.01). The protein amount in EPO group was (77.37 ± 5.24) and (66.37 ± 4.87) mg/mL, respectivly；in control group, it was (65.39 ± 4.97) and (54.62 ± 6.32) mg/mL；indicating significant differences between two groups (P lt; 0.01). At 2 and 4 weeks after operation, the myofibrillar shapes were nearly normal in EPO group while there were muscle fiber atrophy, some collapse and obviously hyperblastosis between muscle bundle. There were significant differences in the muscle cell diameter and the cross section between two groups (P lt; 0.01). However, the percentage of the apoptotic muscle cells was 11.80% ± 1.74% and 28.47% ± 1.81% in control group, respectively, which was significantly smaller than that in EPO group (21.48% ± 2.21% and 55.89% ± 2.88%, P lt; 0.01). At 2 and 4 weeks after operation, Na+-K+-ATPaseand Ca2+-ATPase activities in EPO group were higher than those in control group (P lt; 0.01). Conclusion EPO can delay the denervated muscle atrophy.
Objective To observe the molecular genetic characteristics of seven Chinese families with Leberprime;s hereditary optic neuropathy (LHON). Methods Ophthalmologic examinations were performed on seven probands, maternal members from seven Chinese families and 134 healthy controls. There were two LHON patients in seven Chinese families except probands. The entire mitochondrial genome was amplified using 24 pairs of oligonucleotide primers with overlapping fragments.The mutational site was analyzed through comparison of the Results and Cambridge reference sequence. The penetrance of mutation site was calculated and the haplotype was analyzed. Results Molecular analysis of mitochondrial DNA (mtDNA) in these pedigrees revealed the absence of three common LHON associated with ND4 G11778A, ND1 G3460A and ND6 T14484C mutations. The ND1 T3394C mutation in probands and other matrilineal relatives was present in four out of 134 Chinese healthy controls. Strikingly, these families exhibited very low penetrance of visual impairment. The penetrance was 12.50%, 22.22%, 16.76%, 6.25%, 9.09%, 11.11% and 28.57%. The Results of phylogenetic tree analysis of submitochondrial haplotype showed that these mtDNA polymorphism sites belong to the Asian haplogroups M9, M9, M, D4, M, M9 and M9. Conclusions T3394C mutation exists in seven Chinese LHON pedigrees, and the penetrance was ranged from 6.25% to 28.57%. The patients have different clinical manifestations.
Atrophic age-related macular degeneration (AMD) does not show obvious loss of visual function in the early stage, so it is not easy to be taken seriously. In the advanced stage, most of the patients suffered from macular area retinal map atrophy, which affected night vision and central vision. Drugs currently used in clinical or clinical trials to treat atrophic AMD include drugs for improving choroidal perfusion, reducing the accumulation of harmful substances, preventing oxidative stress injury, inhibiting inflammatory reactions, as well as neuroprotectants and lipid metabolism drugs. Stem cell transplantation for atrophic AMD is currently the most promising treatment. In theory, it is feasible to replace atrophic AMD with retinal photoreceptor cells and RPE cells derived from human stem cell differentiation. However, there are still many problems to be solved, such as how to improve the efficiency of directional differentiation of seed cells and how to ensure the safe and effective RPE cell transplantation and survival after transplantation. At present, several studies have found that multiple locus mutations are associated with atrophic AMD, so gene therapy also plays an important role in the development of the disease.
Objective To compare the clinical effects of two surgical approaches to treatment of horseshoe kidney.Methods From January 1965 to December 1982, 15 patients (11 males, 4 females; aged 14 months to 59 years with a median of 31 years) with horseshoe kidney underwent surgical treatment by the waist cretroperitoneal approach (the waist-approach group). The clinical symptoms and signs were as follows:pain in the waist and abdomen (12 patients), hematuria (7), urinary frequency (4), gastrointestinal disorder (3), and abdominal masses (2). The urography revealed urinary calculus in 10 patients, hydronephrosis in 3, renal cyst in 1, pyonephrosis in 1, renal tuberculosis in 1, and renal cell carcinoma in 1. From January 1977 to December 2005, 17patients (15 males, 2 females; aged 11 months to 56 years with a median of 29.4years) with horseshoe kidney underwent surgical treatment by the epigastric transperitoneal approach (theabdomenapproach group). The clinical symptoms and signs were as follows:pain in the waist and abdomen (15patients), hematuria (12), urinary frequency (10), gastrointestinal disorder (9), and abdominal masses (7). Theurography revealed urinary calculus in 12 patients, hydronephrosis in 10,renal cyst in 3, renal tuberculosis in 1, renal cell carcinoma in 1, and congenital spinal bifida in 1. The two surgical approaches were compared in the clinical therapeutic effects. Results There were no statistically significant differences in operating time, blood loss during operation, and the hospitalization after operation between the waistapproach group and the abdomen-approach group (129.59±23.25 min vs. 163.80±36.25min; 495.29±87.20ml vs. 553.00±92.27ml；13.17±1.14d vs. 13.75±0.21d; Pgt;0.05). Thepostoperative followup for 7 months to 6 years in 11 patients in the waistapproach group and in 6 patients in the abdomenapproach group revealed that there were statistically significant differences in postoperative complication and the recurrence rate of the renal calculus between the two groups (11.76%, 2/17 vs 26.67%, 4/15; 33.33%, 5/15 vs. 0, 0/17; Plt;0.05). The urography or CT taken 6 months to 2 years after operation in 4 patients in the waistapproach group and in 10 patients in the abdomenapproach group revealedthat there was a significant improvement hydronephrosis when compared with before operation.
Objective To review the advances of functional electrical stimulation(FES) in treatment of peripheral nerve injuries. Methods By index of recent literature, the measures of stimulation, the mechanisms of FES and unsolved problems were evaluated and analyzed. Results Great advances have been made in the treatment of peripheral nerve injuries. It can not only enhance the regeneration of injured peripheral nerve, but also prevent muscular atrophy. Conclusion FES is an effective treatment for peripheral nerve injuries.
Objective To study the method of treating hemifacial atrophy withfree serratus muscle flap. Methods Three patients diagnosed as having serious hemifacial atroph was treated with free serratus muscle flap. The root of the flap was thoracodorsal artery and thoracodorsal vein, which was anastomosed with superficial temporal artery and vein, facial artery and vein, lingual artery and vein,and so on.During the operation, long thoracic nerve was dissected and anastomosed with facial nerve. The sizes of the flaps were 12 cm×8 cm16 cm×12 cm.Results All free-muscle flaps healed well after the transplant. The face and buccal area looked chubby and rounded. There were no obvious protuberance and discontentment on the buccal area. The shoulders of all patients moved well. The facial contourof the patients recovered well during the follow-up period (1.3 years). Conclusion The method has a good result, The long-term effect needs further study.
Objective To provide the anatomical basis of contralateral C7 root transfer for the recovery of the forearm flexor function. Methods Thirty sides of adult anti-corrosion specimens were used to measure the length from the end of nerves dominating forearm flexor to the anastomotic stoma of contralateral C7 nerve when contralateral C7 nerve transfer was used for repair of brachial plexus lower trunk and medial cord injuries. The muscle and nerve branches were observed. The length of C7 nerve, C7 anterior division, and C7 posterior division was measured. Results The length of C7 nerve, anterior division, and posterior division was (58.8 ± 4.2), (15.4 ± 6.7), and (8.8 ± 4.4) mm, respectively. The lengths from the anastomotic stoma to the points entering muscle were as follow: (369.4 ± 47.3) mm to palmaris longus, (390.5 ± 38.8) mm (median nerve dominate) and (413.6 ± 47.4) mm (anterior interosseous nerve dominate) to the flexor digitorum superficialis, (346.2 ± 22.3) mm (median nerve dominate) and (408.2 ± 23.9) mm (anterior interosseous nerve dominate) to the flexor digitorum profundus of the index and the middle fingers, (344.2 ± 27.2) mm to the flexor digitorum profundus of the little and the ring fingers, (392.5 ± 29.2) mm (median nerve dominate) and (420.5 ± 37.1) mm (anterior interosseous nerve dominate) to the flexor pollicis longus, and (548.7 ± 30.0) mm to the starting point of the deep branch of ulnar nerve. The branches of the anterior interosseous nerve reached to the flexor hallucis longus, the deep flexor of the index and the middle fingers and the pronator quadratus muscle, but its branches reached to the flexor digitorum superficials in 5 specimens (16.7%). The branches of the median nerve reached to the palmaris longus and the flexor digitorum superficial, but its branches reached to the deep flexor of the index and the middle fingers in 10 specimens (33.3%) and to flexor hallucis longus in 6 specimens (20.0%). Conclusion If sural nerve graft is used, the function of the forearm muscles will can not be restored; shortening of humerus and one nerve anastomosis are good for forearm flexor to recover function in clinical.
Objective To investigate the role of cysteinyl aspartate specific proteinase-3 (Caspase-3)/ gasdermin-E (GSDME)-mediated pyroptosis in skeletal muscle atrophy induced by cigarette smoke in mice.Methods To construct a mouse model of COPD, C57BL/6 mice were exposed to cigarette smoke (CS) for 24 weeks. HE staining was used to observe the changes in the morphology of the gastrocnemius muscle in mice. Immunohistochemistry was used to detect the expression of pyroptosis-related proteins in gastrocnemius muscle. To construct a model of skeletal muscle cell atrophy in vitro, C2C12 myoblasts were induced to differentiate into skeletal muscle cells with 2% horse serum, and then skeletal muscle cells were treated with cigarette smoke extract (CSE). Skeletal muscle cells were further treated with the caspase-3 inhibitor Z-DEVD-FMK and the GSDME inhibitor Dimethyl fumarate (DMF) to explore the effects of inhibition of caspase-3/GSDME on CSE-induced skeletal muscle cell atrophy. To observe the effects of TNF-α on the expression of caspase-3 and GSDME proteins as well as the impact on myotubes, skeletal muscle cells were stimulated with tumor necrosis factor-alpha (TNF-α). Western blotting was applied to detect protein expression levels of caspase-3 and GSDME in skeletal muscle cells. Hoechst 33342/ Hoechst33342/ Propidium Iodide (PI) staining was applied to detect the PI-positive rate of skeletal muscle cells. The lactate dehydrogenase (LDH) release of C2C12 myotubes was measured by LDH release test. Immunofluorescence was used to detect changes in myotube diameter. Results CS-induced skeletal muscle atrophy was observed in mice, accompanied by increased pyroptosis- associated proteins (c-caspase-3 and GSDME-N) (P<0.05). CSE also induced elevated c-caspase-3 and GSDME-N expression in C2C12 cells , resulting in increased LDH release, positive ratio of PI, along with reduced myotube diameter (P<0.05). In addition, TNF-α promotes myotube atrophy and the expression of cleaved-caspase-3 and GSDME-N proteins in skeletal muscle cells. ConclusionCS can induce skeletal muscle atrophy through activated TNF-α/Caspase-3/GSDME-mediated pyroptosis.
Objective To study the clinical characteristics of myotonic dystrophy. Method Patient records in West China Hospital, Sichuan University and China Biological Medicine Database (CBM-disc 1980-1999) were searched. Demographic data, clinical manifestations, laboratory findings of patients with myotonic dystrophy were analyzed. Results Of the total 97 patients, 64 cases were male, and 33 were female. Mean age was 28.5 years old. Ninety percent of patients had a family history. The frequency of symptoms in turn was myotonia (99%), muscle weakness (97%), muscle atrophy (85%), cataract (63%), hair losing or bald (57%) and gonadal atrophy (37%), sexuality disfunction (33%), heart damage (11%), intelligence impairment (11%), hypothyroid or disfunction of adrenal gland (8%), mental state disorders (8%). Conclusions In this group of patients, myotonia, muscle weakness and muscle atrophy were most common symptoms. In addition, some other systemic symptoms were common, such as cataract, hair losing, bald and gonadal atrophy. The clinical manifestations of myotonic dystrophy were complex.