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 study the effect of the competitive inhibitor of nitric oxide synthase NG-nitro-L-arginine methyl ester (LNAME) on thedenervated muscle atrophy. Methods A model of the denervated gastrocnemius atthe right lower limb was established in 36 SD adult rats. The rats were randomly divided into two groups: the L-NAMEgroup (Group A) and the control group(Group B). L-NAME 10 mg/ kg daily was injected into the denervated gastrocnemius inGroup A, and normal saline was injected into the denervated gastrocnemius in Group B. At 2, 4 and 8 weeks after operation, the rate of the muscle wet weight preservation, the cross section area of the myocyte, the protein amount, and the percentage of the apoptotic muscle cells were measured respectively and the ultramicrostructure of the myocyte was observed. Results At 2 and 4 weeks after operation, the rate of the muscle wet weight preservation, the cross section area of themyocyte, and the protein amount were significantly greater in Group A than in Group B; however, the percentage of the apoptotic muscle cells was significantly smaller in Group A than in Group B. The observation of the ultramicrostructure of themyocyte showed that an injection of L-NAME could protect the ultramicrostructure of themyocyte. At 8 weeks after operation, there was no significant difference between the two groups in the abovementioned parameters. Conclusion The nitric oxide synthase inhibition can delay the denervated muscle atrophy.
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 Ligustrazine on the expressions of FoXO3a, MAFbx, and MuRF1 indenervated skeletal muscle atrophy rats. Methods Fifty-four 8-week-old female Sprague Dawley rats were randomly dividedinto 3 groups: normal control group (group A, n=6), denervated control group (group B, n=24), and Ligustrazine interventiongroup (group C, n=24). After the denervated gastrocnemius models were established in the rats of groups B and C, sal ine andLigustrazine [80 mg/(kg·d)] were given every day by intraperitoneal injection, respectively. However, no treatment was donein group A. At 2, 7, 14, and 28 days after denervation, the wet weight of gastrocnemius was measured to calculate the ratio ofwet weight. The mRNA and protein expression levels of FoXO3a, MAFbx, and MuRF1 were detected by RT-PCR and Westernblot. Results The ratio of gastrocnemius wet weight decreased with time after denervation in groups B and C, showingsignificant differences when compared with that of group A (P lt; 0.05), and group C were significantly higher than that of groupB at 7, 14, and 28 days (P lt; 0.05). The mRNA and protein expressions of FoXO3a, MAFbx, and MuRF1 in groups B and Cwere significantly higher than those in group C at 7, 14, and 28 days (P lt; 0.05), and group C was significantly lower than groupB (P lt; 0.05). Conclusion Ligustrazine may postpone denervated skeletal muscle atrophy by reducing mRNA and proteinexpressions of FoXO3a, MAFbx, and MuRF1.
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 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.
Objective To study the quantitative changes of ubiquitin l igase MAFbx mRNA and protein expression, muscle atrophy and muscle function following free muscle transplantation and to explore relationshi ps among them. Methods Thirty-six female SD rats, SPF grade, weighing (250 ± 25) g, were used. One hind l imb of the rat was randomly selected as experimental side to receive in situ free gracil is muscle transplantation, and the counterlateral hind l imb underwent no operation serving as control side. General condition of the rats was observed after operation. Muscle contractivecapacity and muscle wet weight maintenance rate of the experimental and the control side were detected 1, 2, 4, 10, 15, and 30 weeks after operation, and 6 rats were killed at each time point. Meanwhile, HE staining was performed to observe muscle fibre cross-sectional area, real-time quantitative PCR was appl ied to detect relative expression of MAFbx/Atrogin-1 mRNA, and Western blot test was used to observe MAFbx protein expression. Results All rats survived till the end of the experiment, all incisions healed well, and no dysfunction occurred in the experimental sides. The value of muscle contractive capacity, muscle wet weight maintenance rate, muscle’s maximal force of single contraction, and muscle’s maximal force of tetanic contraction in the experimental sides dramatically decreased in the first 4 weeks after operation and increased gradually over 4 to 30 weeks. The MAFbx mRNA expression of the experimental sides peaked and was seven times greater than the control sides 2 weeks after operation, then the value gradually decreased over 15 to 30 weeks after operation and was 1.1 to 1.5 times greater than the control sides, and significant difference was evident between the experimental sides and the control sides at each time point (P lt; 0.05). Significant difference was evident between the experimental sides and the control sides in terms of MAFbx protein expression of the muscle 1 to 15 weeks after operation according to the Western blot result (P lt; 0.05), and no significant difference was noted at 30 weeks (P gt; 0.05). The correlation coefficient between muscle wet weight maintenance rate and muscle’s maximal force of single contraction maintenance rate was 0.95, between muscle wet weight maintenance rate and muscle’s maximal force of tetanic contraction maintenance rate was 0.75, between muscle fibre cross-sectional area recovery rate and muscle’s maximal force of single contraction maintenance rate was 0.93, and between muscle fibre cross-sectional area recovery rate and muscle’s maximal force of tetanic contraction maintenance rate was 0.68 (P lt; 0.05). The correlation coefficient between MAFbx mRNA expression and the parameter of muscle wet weight maintenance rate, muscle fibre cross-sectional area recovery rate, muscle’s maximal force of single contraction maintenance rate, and muscle’s maximal force of tetanic contraction maintenance rate was — 0.62 (P lt; 0.05), — 0.45 (P gt; 0.05), — 0.72 (P lt; 0.05) and — 0.78 (P lt; 0.05), respectively; the correlation coefficient between MAFbx protein relative expression and the parameter of muscle wet weight maintenance rate, muscle fibre cross-sectional area recovery rate, muscle’s maximal force of single contraction maintenance rate, and muscle’s maximal force of tetanic contraction maintenance rate was — 0.95 (P lt; 0.05), — 0.82 (P lt; 0.05), — 0.89 (P lt; 0.05), and — 0.54 (P gt; 0.05), respectively. Conclusion Decrease of muscle function after transplantation correlates closely with muscle atrophy. The high expression of MAFbx mRNA and protein, especially their persistent increases from 4 to 15 weeks after nerve reinnervation, is a junction between the muscle atrophy and thedecrease of muscle function.
Mutations in optic atrophy (OPA) genes can lead to a similar phenotype, namely optic atrophy, which can manifest as isolated optic atrophy or be accompanied by other systemic symptoms, mostly related to the nervous system. Currently, a total of 13 OPA genes have been discovered, covering a variety of inheritance patterns, including chromosomal dominant inheritance, autosomal recessive inheritance, and X-linked inheritance. Through genetic testing and analysis of patients, it is possible to accurately determine whether they carry mutation genes related to optic atrophy, and predict the progression of the disease and potential complications accordingly. This not only provides valuable genetic counseling and fertility planning guidance for patients and their families, but also helps better understand the disease, discover new therapeutic targets, and lay the foundation for developing more precise and effective drugs or gene therapies in the future.
Objective To summarize the recent progress in research on the mechanism of denerved skeletal muscle atrophy. Methods The recently-publ ished l iteratures at home and abroad on denerved skeletal muscle atrophy were reviewedand summarized. Results The mechanism of denerved skeletal muscle atrophy was very complex. At present, the studyof the mechanism was based on the changes in histology, cytology and molecules. Fiber thinning and disorderly arrangement of denerved skeletal muscles were observed and apoptotic bodies were detected. Apoptosis-promoting genes expressed upregulatedly and apoptosis-restraining genes expressed down-regulatedly. Muscle satell ite cells increased after denervation, but then they decreased and disappeared because they could not differentiate to mature muscle fibers. The structural change of cytomiscrosome and down-regulation of metabol ism-related enzymes induced cell metabol ism disorder. Conclusion The histological change of skeletal muscle fibers, the change of the number of muscle satell ite cells and differentiation, the structural change of cytomiscrosome and the change of apoptosis-related and metabol ism-related gene expressions contribute to denerved skeletal muscle atrophy.