RESUMEN
Bardet-Biedl syndrome (BBS) is an autosomal recessive hereditary rare disease with high heterogeneity in clinical phenotypes, which can affect multiple systems, such as six fingers/digits deformity, mental impairment, retinopathy, polycystic kidney, etc, and is easily diagnosed according to a single system disease, resulting in misdiagnosis. The paper reports a case of BBS, diagnosed with "renal cyst, developmental delay, chondrosis, and left foot hexadactylism" at 5 years old, "anemia, renal insufficiency, distal renal tubule poisoning, renal osteodystrophy" at 7 years old. At 10 years old, the patient received hemodialysis treatment for uremia. Cloudy vision appeared in both eyes at 14 years old. Because of the prominent manifestation of kidney damage, the patient was misdiagnosed as "polycystic kidney" for a long time, and other systemic damages were ignored. The result of gene sequencing showed that chromosome 16 NM_031885.5 exon17 had one homozygous nonsense mutation. Therefore, the patient was accurately diagnosed as BBS. This paper is the first report of BBS in Li nationality in China. The relevant literature of BBS were reviewed to strengthen clinicians' understanding of the disease and improve patients' prognosis.
RESUMEN
Objective:To explore the risk factors of autogenous arteriovenous fistula (AVF) aneurysms (AVFAs) in maintenance hemodialysis (MHD) patients.Methods:The patients who used internal arteriovenous fistula (end to side anastomosis) of cephalic vein-radial artery at wrist as vascular access in Hainan Provincial People′s Hospital from June 1 to June 30, 2021 were selected as the research objects. The patients were divided into AVFAs group and non-AVFAs group according to whether AVF formed AVFAs. The clinical data and laboratory examination results between the two groups were compared. Binary logistic regression model was used to analyze the risk factors for the formation of AVFAs.Results:A total of 170 MHD patients were enrolled in this study, including 111 males (65.3%) and 59 females (34.7%), with age of (51.65±12.70) years old and dialysis age of (57.03±49.25) months. There were 33 cases in AVFAs group and 137 cases in non-AVFAs group. The incidence of AVFAs was 19.4%. Compared with non-AVFAs group, the proportion of males ( χ2=4.934, P=0.026) and the levels of serum uric acid ( t=2.547, P=0.012) and serum albumin ( t=2.122, P=0.010) in AVFAs group were higher; The age ( t=-2.210, P=0.028), the proportion of diabetes nephropathy ( χ2=11.788, P=0.001), systolic blood pressure ( t=-1.994, P=0.048) and total cholesterol ( t=-2.174, P=0.031) were lower; The diameter of anastomosis was wider ( Z=-3.224, P=0.001); Mantel-Haenszel chi square test analysis showed that dialysis age ( χ2=53.832, OR=0.518, P<0.001), AVF service time ( χ2=51.355, OR=0.516, P<0.001), and brachial artery blood flow ( χ2=25.315, OR=0.331, P<0.001) were correlated to the formation of AVFAs. The results of multivariate logistic regression analysis showed that males ( OR=10.005, 95% CI 1.875-53.394, P=0.007), longer dialysis age ( OR=1.341, 95% CI 1.104-1.628, P=0.003), longer AVF use time ( OR=1.187, 95% CI 1.002-1.405, P=0.047), higher brachial artery blood flow ( OR=1.002, 95% CI 1.000-1.004, P=0.028) and lower total cholesterol ( OR=0.388, 95% CI 0.172-0.875, P=0.022) were the independent risk factors for the formation of AVFAs. Conclusions:The incidence of AVFAs in MHD patients is 19.4%. Males, long dialysis age, long AVF use time, high brachial artery blood flow and low total cholesterol level are the independent risk factors for the formation of AVFAs.
RESUMEN
Objective To observe the efficacy of high-energy red light combined with human-like collagen dressing in treatment of facial corticosteroid addictive dermatitis.Methods Eighty-three patients with facial corticosteroid addictive dermatitis were divided into treatment group (42 cases) and control group (41 cases) by random digits table method.All patients in 2 groups were treated with ebastine 10 mg,once a day,and vitamin E cream,twice a day.At the same time,the patients in control group were given human-like collagen dressing,once a day in the first week,then 3 times/week.On the basis of control treatment,the patients in treatment group were irradiated with high-energy red light 10 min in face,2-3 times/week.The treatment of both groups lasted for 12 weeks.The symptoms,skin lesions and untoward reaction were observed after treatment of 4,8 and 12 weeks.Results After treatment of 4 weeks,there was no statistical difference in the effective rate between 2 groups (P ＞ 0.05).After treatment of 8 and 12 weeks,the effective rates in treatment group were significantly higher than those in control group [83.3％(35/42) vs.58.5％ (24/41),90.5％ (38/42) vs.65.9％ (27/41)],there were statistical differences (P ＜ 0.05).No untoward reaction was found in 2 groups.Conclusion High-energy red light combined with human-like collagen dressing is effective and safe in treatment of facial corticosteroid addictive dermatitis.
RESUMEN
Objective To study the curative effect of posterior diskoscope discectomy for adolescent lumbar disc herniation.Methods Eleven adolescent patients with lumbar disc herniation were treated with posterior diskoseope discectomy,the Japanese orthopaedic association (JOA) lower back pain score was observed and compared before operation and after operation 3,6,12 months.Results The JOA lower back pain score were (15.45 ± 2.73),(27.18 ± 2.08),(28.18 ± 1.25),(28.54 ± 1.21) scores before operation and after operation 3,6,12 months,there was statistical difference in JOA lower back pain score between before operation and after operation 3,6,12 months (P ＜ 0.01).The patients were followed up for 1-10 years,mean 7.9 years,excellent was in 8 cases,good was in 2 cases,general was in 1 case.Recurrence and iatrogenic lumbar instability were not found.Conclusions The posterior diskoscope discectomy with less trauma,less bleeding,faster recovery,and can achieve the same decompression objective with the traditional open surgical.So posterior diskoscope discectomy can be used as adolescent treatment of lumbar disc herniation.