Leber hereditary optic neuropathy is an optic neuropathy associated with mitochondrial DNA. The disease affects young men mainly, which is considered to be due to denaturation of the retinal nerve ganglion cell and axonal loss of optic nerve, leading to optic atrophy. Nowadays, there are some development in studying Leber hereditary optic neuropathy by optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA). It is great help to know the disease, forecast the progression of disease, and take action on intervention. In addition, there is a lack of in-depth study on OCT and OCTA characteristics among different mutation sites of LHON, different genders of the same site, different families of the same site or even different branches of the same family. It is expected to be improved in the future work.
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 explore the effect of tri pterygium glycoside (TG) on the skeletal muscle atrophy and apoptosis after nerve allograft. Methods Twenty Wistar male rats were adopted as donors, weighing 200-250 g, and the sciatic nerves were harvested. Fifty SD male rats were adopted as recipients, weighing 200-250 g. Fifty SD rats were made the models of10 mm right sciatic nerve defect randomly divided into five groups (n=10): group A, group B, group C, group D and group E.groups A and B received fresh nerve allograft, groups C and D received sciatic nerve allograft pretreated with TG, and group E received autograft. The SD rats were given medicine for 5 weeks from the second day after the transplantation: groups A and E were given physiological sal ine, groups B and D TG 5 mg/ (kg·d), and group C TG 2.5 mg/ (kg·d). At 3 and 6 weeks, respectively, after nerve transplantation, general observation was performed; the structure of skeletal muscles was observed by HE staining; the diameter of skeletal muscles was analyzed with Image-Pro Plus v5.2; the ultrastructure of skeletal muscles was observed by TEM; the expressions of Bax and Bcl-2 were detected by immunohistochemical staining; and the apoptosis of skeletal muscles was detected by TUNEL. Results All rats survived to the end of the experiment. In general observation, the skeletal muscles of SD rates atrophied to different degrees 3 weeks after operation. The muscular atrophy in group A was more serious at 6 weeks, and that in the other groups improved. The wet weight, fiber diameter and expression of Bcl-2 in group A were significantly lower than those in groups B, C, D and E (P lt; 0.01)；those in groups B, C and D were lower than those in group E (P lt; 0.05); and there were no significant differences among groups B, C and D (P gt; 0.05). The apoptosis index and expression of Bax in group A were significantly higher than those in groups B, C, D and E (P lt; 0.01)；those in groups B, C and D were higher than in groupE (Plt; 0.05); and there were no significant differences among groups B, C and D (P gt; 0.05). Three weeks after nerve allograft, under the l ight microscope, the muscle fibers became thin; under the TEM, the sarcoplasmic reticulum was expanded. Six weeks after nerve allograft, under the l ight microscope, the gap of the muscle fibers in group A was found to broaden and connective tissue hyperplasia occurred obviously; under the TEM, sarcomere damage, serious silk dissolution and fragmentary Z l ines were seen in group A, but the myofibrils were arranged tidily in the other groups, and the l ight band, dark band and sarcomere were clear. Conclusion TG can decrease the skeletal muscle atrophy and apoptosis after nerve allograft. The donor’s nerve that is pretreated with TG can reduce the dosage of immunosuppressant for the recipient after allograft.
ObjectiveTo investigate the relationship between genotype and phenotype in children with CRB1 mutated Leber congenital amaurosis (LCA) and early onset retinal dystrophy (EOSRD).MethodsA retrospective clinical study. From January 2013 to December 2019, 10 children with CRB1 mutated LCA/EOSRD were enrolled in the study. The patients were identified as CRB1 mutation by the second generation targeted capture sequencing, Sanger sequencing and the family segregation analysis. All children underwent electroretinogram (ERG) and fundus examination. At the same time, 6 cases were examined by optical coherence tomography (OCT); 1 case was examined by fluorescein fundus angiography (FFA), 7 cases were examined by wide-angle laser scanning ophthalmoscope (UWF SLO).ResultsThere were 6 cases of LCA and 4 cases of EOSRD in 10 patients with CRB1 gene mutations. The average age of first visit was 3.61 years old. The light and dark wave of ERG was flat in 6 cases, and decreased in 4 cases. A total of 19 pathogenic mutations were detected. There were 1 homozygous mutation and 9 compound heterozygous mutations. There were 4, 2 and 1 cases of “copper-coin” like, “salt and pepper” like and “osteocyte” like pigment changes in retina, 1 case of “crystalline pigment” change and 2 cases of macular pigment scar. In 7 cases of UWF SLO examination, different degrees of para-arteriolar pigment epithelium retention (PPRPE) were found in the middle and peripheral fundus. In 6 cases examined by OCT, the outer layer of retina atrophied and the band of ellipsoid disappeared. Symmetrical cystoid macular edema, splitting cystoid macular degeneration and adhesion of epi-macular membrane to optic disc and macular area were found in 1 case, respectively, the retinal structure was rough and thickened, and the fovea became thinner in 3 cases. In FFA examination, 1 case showed uveitis-like changes with late optic disc fluorescein staining, macular fluorescence accumulation, strong fluorescence diffusing along the blood vessels in each quadrant, peripheral PPRPE of “frost-branch” like strong fluorescence.ConclusionThe relationship between genotype and phenotype of CRB1 mutation is complex, and PPRPE is a common characteristic change.
【Abstract】 Objective To investigate the cl inical effect of transplanting by auto-fat granule injection for mastatrophy post suckl ing. Methods From March 2000 to June 2006, 73 patients(146 breasts ) with mastatrophy post suckl ing were treated by transplanting auto-fat granule. The mastatrophy occurred between ages 28 and 52 years with a median of 37 years post suckl ing. The breasts shrank and their elasticity decreased gradually within 2-10 years post suckl ing. The autofat granule was obtained by l iposuction with syringe from patient’s abdomen, waist, buttocks and thighs, etc. After repeated wash and purification, the auto-fat granule was transplanted into the interspace behind the breast by injection. The quantity of auto-fat granule was 50-100 mL in each side of breast per transplantation at 3-6 months intervals, and the whole course of treatment needed 2-6 transplantations. Results The incisions in all cases healed primarily postoperatively. In 73 cases, 65 were followed up from 6 months to 3 years post operation. All patients had a significant improvement in their breast size and shape postoperatively and their breasts were soft and natural in appearance and feel. All of them had more perfect arcuation ofphysique and body with strengthened self-confidence, rel ieved mood and improved qual ity of l ife. However, small indurations were found sporadically in 7 cases (10 breasts) within 2-7 months, and calcifications in 5 cases (8 breasts) within 9-14 months post the first operation. Conclusion The transplantation by auto-fat granule injection for mastatrophy post suckl ing is an effective and practical method. The surgical technique is well worth performing in cl inical practice.
Muscle atrophy of the residual limb after lower-limb amputation is a disadvantage of amputees' rehabilitation. To investigate the biomechanics mechanism of muscle atrophy of the residual limb, we built a finite element model of a residual limb including muscle, skeletons and main vessels based on magnetic resonance images of a trans-femoral amputee, and studied the biomechanics effects of the socket of the lower-limb prosthesis on the soft tissue and vessels in the residual limb. It was found that the descending branch of the lateral femoral circumflex artery suffered the most serious constriction due to the extrusion, while that of the deep femoral artery was comparatively light. Besides, the degree of the constriction of the descending branch of the lateral femoral circumflex vein, femoral vein and deep femoral vein decreased in turn, and that of the great saphenous vein was serious. The stress-strain in the anterior femoral muscle group were highest, while the stress concentration of the inferior muscle group was observed at the end of the thighbone, and other biomechanical indicators at the inferior region were also high. This study validated that the extrusion of the socket on the vessels could cause muscle atrophy to some degree, and provided theoretical references for learning the mechanism of muscle atrophy in residual limb and its effective preventive measures.
Objective To investigate the effect of free anterolateral thigh adipofascial flap in correcting the hemifacial atrophy. Methods From January 1997 to May 2006, 35 patients suffering from hemifacial atrophy were corrected with microvascular anastomotic free anterolateral thigh adipofascial flap and other additional measures according to the symptoms of the deformities. There were 11 males and 24 females, aging 1547 years. The locations were left in 12cases and right in 23 cases. The course of disease was 4 to 28 years. Their hemifacial deformities were fairly severity. Their cheeks were depressed obviously. The X-ray films and threedimensinal CT showed the 28 patients’ skeletons were dysplasia. The size of adipofascial flap ranged from 8 cm×7 cm to 20 cm×11 cm. Donor sites weresutured directly. Results Recipient site wound of all patients healed by first intention. All adipofascial flaps survived. The donor sites healed well and no adiponecrosis occurred. Thirty-five cases were followed up for 6 months to 8 years. The faces of all patients were symmetry, and the satisfactory results were obtained. There were no donor site dysfunction. Conclusion The anterolateral thigh adipofascial flapprovides adequate tissue, easytosurvive, no important artery sacrificed and the donor scar ismore easily hidden. Combining with other auxiliary methods, it can be successfully used to correct the deformity of hemifacial atrophy.
ObjectiveTo summarize recent progress in surgical management of progressive hemifacial atrophy (PHA), to analyse the key features of various methods of treatment, and to define subjects worthy of further researches. MethodsThe publications concerning the etiology and surgical management of PHA were reviewed, analyzed, and summarized. ResultsSurgical management serves as the primary treatment, including flap transposition, tissue flap reconstruction, free tissue grafting, prosthetic implants, and other surgical treatments. Each method has its own advantages and limitations. At present, comprehensive treatment are considered to be the most commonly method for PHA. ConclusionThe combined use of various surgical methods is the trend of surgical management of PHA; effective treatments specific to the etiology and minimally invasive surgical methods are still to be developed.
ObjectiveTo explore the correlation between urinary disorders and imaging changes of cerebral small vessel diseases (CSVDs) in community-dwelling populations.MethodsA cross-sectional analysis was conducted on participants enrolled in the Shunyi study from June 2013 to April 2016. Eligible participants were community-dwelling populations aged ≥35 years with interpretable magnetic resonance imaging scans and no history of stroke or urinary system diseases. Data on demographic characteristics, vascular risk factors, cognitive functions, and urinary disorders (including any form of urinary disorders, incontinence, daytime urination frequency, and nocturnal urination frequency) were collected. Imaging changes including white matter hyperintensities (WMHs), lacunes, cerebral microbleeds (CMBs), perivascular spaces (PVSs), and brain volume were measured using 3 T magnetic resonance imaging. Logistic regression model analysis was performed to identify the potential correlations between urinary disorders and imaging markers of CSVD.ResultsA total of 916 participants (with a mean age of 57.4 years; 36.2% were males) were finally enrolled in this study based on the enrollment criteria. CSVD imaging changes of WMHs, lacunes, CMBs, PVSs or brain volume were not associated with any form of urinary disorders in multivariable models (P>0.05). CSVD imaging changes were not associated with presence of urinary incontinence (P>0.05). In terms of urinary frequency, the CSVD imaging changes were not related to nocturnal urinary frequency (P>0.05). However, lower brain volume was correlated with daytime urination frequency [3-5 vs. <3 times per day: odds ratio (OR)=2.520, 95% confidence interval (CI) (1.278, 4.972), P=0.008; >5 vs. <3 times per day: OR=3.115, 95%CI (1.317, 7.372), P=0.010].ConclusionBrain atrophy may affect daytime urination frequency in community-dwelling populations.
ObjectiveThe aim was to summarize the seizure and video electroencephalogram (VEEG) characteristics of Dyke-Davidoff-Masson syndrome (DDMS). Methods The case data of four patients with Dyke-Davidoff-Masson syndrome (DDMS) who attended the Epilepsy Center of Hunan Provincial Brain Hospital from March 2022 to March 2023 were retrospectively analyzed to summarize the clinical manifestations of their seizures and the characteristics of their video electroencephalogram (VEEG). Results One case of symptomatic epilepsy with focal seizures; VEEG showed poor background activity alpha rhythmic modulation, amplitude modulation, and increased distribution of slow wave activity in the left frontal and temporal regions; bilateral frontal-central and anterior-temporal regions (more so on the left side), with sharp and slow composite wave issuance.Two cases of symptomatic epilepsy with focal seizures progressing to generalized seizures; in one case, the VEEG showed: background activity α-rhythmic modulation, amplitude modulation is possible, the left frontal, central, anterior temporal region slow wave increase; the left frontal central, parietal anterior temporal region spike-like slow wave activity mixed with spike wave, spike-slow complex wave short-medium-range issuance; the other VEEG showed: background activity α-rhythmic modulation, amplitude modulation is possible, the right frontal central, anterior temporal region slow wave increase; right frontal, central, and anterior temporal region for the famous medium-extremely high-high-amplitude slow wave activity mixed with spike wave, spike-slow complex wave short-medium-range issuance. One case of symptomatic epilepsy with generalized seizures; VEEG showed bilateral occipital alpha rhythm asymmetry, right occipital region <50% of the left side, poor regulation and amplitude modulation; bilateral frontal pole, frontal region, anterior temporal region spike and spiking slow complex wave discharges (right side was prominent), and right pterionic electrodes, anterior temporal and mesial temporal spike and spiking slow wave discharges. Conclusions Epileptic seizures are one of the main clinical manifestations of DDMS and most of them are consulted after a seizure, and their seizure types tend to be focal seizures or progress to generalized seizures, and most of them are drug-refractory epilepsies. The results of VEEG monitoring tend to be characterized by abnormal background activity, increased slow-wave activity, and the site of epileptogenic wave-like discharges tends to be in line with the site of cerebral softening foci or the site of the atrophic side of the brain as shown by cranial MRI.