目的 探討腹腔鏡全結腸切除術在家族性腺瘤性息肉病（FAP）中的應用價值。方法 回顧性分析我院2008年1月至2009年10月期間收治的行腹腔鏡全結腸切除術的4例FAP患者的臨床資料，對手術安全性和術后恢復情況進行分析。結果 4例患者均順利行腹腔鏡全結腸切除術，無中轉開腹，無手術并發癥及死亡。腹部切口長6.0 cm，手術時間300～380 min（平均330 min），術中出血量90～250 ml（平均160 ml）。術后2～3 d肛門開始排氣，術后住院時間7～11 d（平均9 d）出院。出院后大便稀薄，8～12次/d，給予易蒙停治療后緩解。隨訪2～22個月（平均14個月），無近期并發癥發生。結論 腹腔鏡全結腸切除術治療FAP安全、有效，近期效果良好。
ObjectiveTo analyze the color Doppler flow imaging (CDFI) features of familial exudative vitreoretinopathy (FEVR) at different stages. MethodsA retrospective study. A total of 104 patients with 201 eyes from Department of Ophthalmology of Beijing Tongren Hospital who were hospitalized for fundus examination and diagnosed with FEVR from 2018 to 2022 were included. There were 69 male cases with 133 eyes and 35 female cases with 68 eyes. The age was ranged from 2 months to 11 years, with a mean age of 2.9 years. Fundus and CDFI examination were performed in both eyes. Fluorescein fundus angiography was performed in 72 cases (144 eyes). FEVR staging was conducted according to literature standards. The presence of avascular areas in the peripheral retina or abnormal retina neovascularization was stage 1; the presence of retinal neovascularization at the vitreoretinal interface in the avascular area was stage 2; partial retinal detachment without macula involvement was stage 3; partial retinal detachment involving the macula was stage 4; complete retinal detachment was stage 5. The CDFI ultrasound features of FEVR at different stages were analyzed. The CDFI image features of FEVR patients in different stages were observed. ResultsAmong the 104 patients, 97 (93.3%, 97/104) cases were binocular and 7 (6.7%, 7/104) cases were monocular. In 201 eyes, stages 1 to 5 of FEVR were 49 (24.4%, 49/201), 23 (11.4%, 23/201), 39 (19.4%, 39/201), 71 (35.3%, 71/201), and 19 (9.5%, 19/201) eyes, respectively. CDFI examination showed no abnormality or mild vitreous opacity in 49 eyes vitreous body at stage 1. Vitreous opacities were observed in all 23 eyes in stage 2, and the echo of the temporal ballwall was not smooth. In 39 eyes at stage 3, the anterior globular cluster echo in temporal peripheral eyes was observed in 17 eyes and partial retinal detachment was observed in 13 eyes. In 71 eyes at stage 4, 51 eyes had temporal or infratemporal retinal folds, and 20 eyes had temporal retinal detachment. All the 19 eyes in stage 5 had total retinal detachment, of which 15 eyes had closed "funnel-shaped" retinal detachment. Among the patients with retinal folds, 13 had bilateral folds, and the fellow eyes of the other 25 patients with unilateral folds all had vitreous opacity or clump echo in front of the temporal spherical wall. Blood flow signals could be detected on the retinal folds with Doppler imaging. ConclusionsThe CDFI manifestations of FEVR patients at different stages have different characteristics. The possibility of FEVR should be considered when the temporal or infratemporal retinal folds of both eyes are present, as well as the retinal folds of one eye, the contralateral vitreous body opacity, or the anterior temporal peribulbar cluster echoes are present.
ObjectiveThe study aimed to investigate the clinical characteristics of epilepsy patients with DEPDC5 mutation, and to improve the understanding of familial hereditary focal epilepsy.MethodsThree families with familial hereditary focal epilepsy were enrolled in this study from September 2014 to September 2017 at the Sanjiu Brain Hospital of Guangdong Province. Epilepsy-related gene in peripheral blood was detected by the second generation sequencing. The medical history, family history, magnetic resonance imaging, electroencephalo-groph, treatment programs and other data were collected and aralyzed.ResultsThere were 8 patients in the three families, seizures of whom originate mostly from the frontal or temporal lobe. Cognitive function and other system function was basically normal fron patients treated with antiepilepsy drugs.ConclusionsThe mutations of DEPDC5 gene are common in familial hereditary focal epilepsy, which leads to the main clinical symptom of complex partial seizure. Antiepilepsy drug therapy is effective to most patients. However, to those drug resistant patients, prognosis can improved by surgical treatment.
ObjectiveTo investigate the causes of secondary glaucoma after vitrectomy for familial vitreous amyloidosis associated with transthyretin (TTR) gene Gly83Arg mutation.MethodsA retrospective case study. From January 2008 to January 2020, 13 cases (23 eyes) with hereditary vitreous amyloidosis and treated by vitrectomy in the Affiliated Hospital of Zunyi Medical University were collected. Among them, there were 7 males with 12 eyes and 6 females with 11 eyes. The average age was 43.0±4.8 years. All the affected eyes underwent standard three-channel vitrectomy through the flat part of the ciliary body. According to whether complete vitreous detachment (PVD) was formed during the operation, it was divided into complete PVD group and incomplete PVD group; according to the occurrence time of secondary glaucoma and vitreous amyloidosis after surgery, it was divided into 1-12 months group and 13-36 months group, ＞37 months group. The average follow-up time after surgery was 36.7±6.0 months. The incidence of secondary glaucoma and the recurrence rate of vitreous amyloidosis between groups were compared by χ2 test; the correlation between recurrence of vitreous amyloidosis and secondary glaucoma after surgery was analyzed by Spearman rank correlation analysis.ResultsAmong the 23 eyes, there were 8 eyes in the complete PVD group and 15 eyes in the incomplete PVD group, respectively. Vitreous amyloidosis recurred in 15 eyes (65.22%, 15/23) after surgery. There were 14 (93.30%, 14/15) and 1 (6.70%, 1/15) eyes in the incomplete PVD group and the complete PVD group, respectively; the comparison of the recurrence rate of vitreous amyloidosis between the two groups was statistically significant (χ2=11.676, P＜0.01). 1-12 months group, 13-36 months group, ＞37 months group included 1 (4.35%, 1/23), 12 (52.17%, 12/23), 2 (8.70%, 2/23) Only eye. The recurrence rate in the 13-36 months group was significantly higher than that in the 1-12 months group and ＞37 month group. Secondary glaucoma occurred in 11 eyes (47.80%, 11/23) after surgery. 1-12 months group, 13-36 months group, above 37 months group were 1 (4.35%, 1/23), 8 (34.78%, 8/23), 2 (8.70%, 2/23) eyes. The incidence of secondary glaucoma in the 13-36 months group was higher than that in the 1-12 months group and ＞37 months group. Among 11 eyes with secondary glaucoma, 10 eyes had recurrence of vitreous amyloidosis after surgery, and 1 eye had no recurrence. The results of Spearman rank correlation analysis showed that there was a positive correlation between the recurrence of vitreous amyloidosis and the occurrence of secondary glaucoma (rs=0.516, P=0.012).ConclusionThe incidence of secondary glaucoma after vitrectomy in a family with vitreous amyloidosis caused by the Gly83Arg mutation of TTR gene is higher, and its occurrence is significantly positively correlated with the recurrence of vitreous amyloidosis.
ObjectiveTo observe and investigate the related factors that might affect clinical features of familial exudative vitreoretinopaty (FEVR) patients. MethodsA retrospective chart study. From January 2012 and December 2021, 42 patients with 84 eyes with a diagnosis of FEVR from Department of Ophthalmology, Peking University People's Hospital were included in the study. The patients came from 42 separate families. There were 31 males and 11 females, with an average age of first diagnosis was 16.6±33.7 months. There were 21 patients referred from other hospitals for the fundus disease found in eye screening after birth, 21 patients were first seen in our hospital. There were 4 and 38 premature and full-term infants, respectively. Two patients with a positive family history of FEVR. All patients are FEVR stages 1-5. The wide-angle digital pediatric retinal imaging system after general anesthesia for fluorescein fundus angiography (FFA) examination were performed for patients aged ＜5 years. If patients ≥ 5 years old, routine FFA examination was performed. Sixty-eight first-degree relatives from 28 families undergo routine fundus examinations and FFA examination. Genetic examination was performed for 26 families, including 26 probands and 57 first-degree relatives. Genetic examination were performed on gene the coreceptor of low density lipoprotein receptor-associated protein 5 (LRP5), Wnt receptor coiled protein 4 (FZD4), Norrie disease (NDP), tetraporin 12 (TSPAN12), catenin β1 (CTNNB1) genes known to be involved in FEVR. The clinical features and the genotype of FEVR were observed in relation to the clinical phenotype. ResultsAmong the 42 patients, 13 patients were first observed by strabismus and nystagmus, with the median age of 12 months. Eight patients were complained non-chasing or vision-related symptoms. Among the 84 eyes, FEVR stage 1 or 2, 3 or 4, and 5 were 50 (59.5%, 50/84), 31 (36.9%, 31/84), and 3 (3.6%, 3/84) eyes, respectively. Among the 23 patients who were > 3 months at first diagnosis, 16 patients had at least one eye severer than stage 3 (69.6%, 16/23). Of the 68 first-degree relatives, 22 (32.4%, 22/68) had FEVR-like changes. Among the 26 families that underwent genetic detection, 13 families (50%, 13/26) of 16 variants of FEVR-related genes were detected, of which 10 mutations of LRP5 gene were the most common. There were 10 families with single gene mutations, including 6, 2 and 2 families of LRP5, FZD4 and CTNNB1 genes, respectively. One family of LRP5 gene mutations were compound heterozygous mutations, 1 family with LRP5 gene mutaition combined with NDP gene mutation, and 1 family with LRP5 and TSPAN12 gene mutation. Among the proband with FEVR pathogenic genes, 6 cases with similiar stage of both eyes, and 7 cases with inconsistent disease stages, and there was no obvious correlation between gene mutations and clinical phenotypes. ConclusionIn addition to the age of first diagnosis, no exact factors affecting the clinical manifestations of FEVR are found, and the association between clinical phenotypic and genetic heterogeneity still needs to be further explored.