A homozygous MITF mutation leads to familial Waardenburg syndrome type 4

Waardenburg syndrome (WS) is a genetic disorder characterized by hearing loss and pigmentary abnormalities with variable penetrance. Though heterozygous mutations in MITF are a major cause for Waardenburg syndrome type 2 (WS2), homozygous mutations in this gene and the associated phenotype have been rarely characterized. In this study, we identified a novel p.R223H mutation in MITF in a Chinese Han family with variable WS features. Both parents carried a heterozygous p.R223H mutation. They had normal hearing, and premature greying of the hair is their only pigmentary abnormality. In contrast, their two children both carried a homozygous p.R223H mutation and had classic WS features including profound hearing loss, heterochromia irides and marked pigmentary abnormalities in hair and skin. Interestingly, the two affected children also have persistent chronic constipation since the neonatal period, symptoms suggestive of Waardenburg syndrome type 4 (WS4). Our study revealed a likely association between homozygous mutations in MITF and WS4, which implies a dosage effect for the underlying pathogenesis mechanism.     

Nonalcoholic fatty liver disease and risk of prostatic diseases: Roles of insulin resistance

Nonalcoholic fatty liver disease (NAFLD), the liver component of metabolic syndrome, is considered to be associated with high risk of prostatic diseases but a systematic review has not been conducted. Under a comprehensive review of the eligible clinical studies, a potential positive association between NAFLD and benign prostatic hyperplasia/prostate cancer (BPH/PCa) has been postulated. Insulin resistance and metabolic aberrations are considered to be the potential mechanism for such association. However, the relationship between NAFLD and other prostatic diseases, that is, prostatic inflammation and lower urinary tract symptoms, seems vague due to limited relevant studies in the literatures. The present review highlights that clinicians should be conscious of the detrimental effect of NAFLD on the development of BPH and PCa.     

Digoxin reduces the incidence of prostate cancer but increases the cancer-specific mortality: A systematic review and pooled analysis

Digoxin, a commonly used drug for congestive heart failure and cardiac arrhythmias, has been reported to exert cytotoxic and apoptosis-inducing effects on prostate cancer (PCa) cells. In this study, we aimed to perform a pooled analysis to summarise all the evidence related to the effects of digoxin on PCa development. Four electronic databases were systematically searched to filter the eligible studies. The hazard ratio (HR) with its 95% confidence interval (CI) was calculated. This study was registered on PROSPERO (ID: CRD42021226885). Ten clinical studies with a total of 108,444 participants (15,835 individuals were digoxin users) were included. The pooled result from 6 included studies demonstrated that digoxin usage was correlated with a significant decrease in PCa risk (adjusted RR = 0.892, 95% CI: 0.799–0.997, p = .044) when compared with the nonusers. Synthetic result of 4 eligible studies revealed that digoxin significantly correlated with higher prostate cancer-specific mortality than the controls (adjusted HR = 1.142, 95% CI: 1.005–1.297). No statistical heterogeneity was detected during this analysis (all I² < 50%, p > .1). Our study confirmed a preventive effect of digoxin usage for the risk of PCa in men. However, digoxin use was associated with a significantly elevated risk of prostate cancer-specific mortality. This finding needs more well-designed studies to better interpret the causality.     

局部炎症反应与无细胞异种真皮基质移植物的降解吸收关系

目的 探讨不同方法制作的无细胞异种真皮基质(Xeno-ADM)移植物降解吸收与炎症反应之间的关系。方法 猪和兔断层中厚皮片经Trypsin和TritonX-100等脱细胞,分别制成Xe-no-ADM和异体ADM(Allo-ADM),再按不同的预处理因素进行分组:(1)戊二醛交联的Xeno-ADM(A)组;(2)网状交联的Xeno-ADM(B)组;(3)未交联的:Xeno-ADM(C)组,预先被Xeno-ADM蛋白致敏的兔皮下植入;(4)交联的Xeno-ADM(D)组;(5)Allo-ADM(E)组。每组80块ADM分别埋植于兔耳和背部皮下。结果在背部的移植物较耳部炎性反应和降解吸收明显,至术后32wk时,E组以外的其它组移植物解剖学和组织学结构消失,D组和A组炎症反应滞后,可见较多的异物巨细胞,各组ADM炎症反应与降解/吸收的程度依次为:C>B>D>A>E(P相似文献   

M2 polarization of monocytes in ankylosing spondylitis and relationship with inflammation and structural damage

The aim of this study was to evaluate the polarization of peripheral blood monocytes in the patients with ankylosing spondylitis (AS) and to determine the correlations between monocyte polarization and inflammation and structural damage. A total of 120 AS patients, 50 rheumatoid arthritis (RA) patients and 100 healthy controls were enrolled in the study. M1 (CD68+CD192+) and M2 (CX3CR1+CD163+) monocytes were characterized by flow cytometry. Demographic, clinical, radiographic and laboratory data were collected and analyzed. A large increase in M2 (CX3CR1+CD163+) monocytes was observed in AS, and M2/M1 ratio was 7.18 ± 6.12, 2.54 ± 3.14 and 35.61 ± 20.04 in control, RA and AS, respectively. The M2/M1 ratio correlated with modified Stoke Ankylosing Spondylitis Spine Score (mSASSS) (r = 0.565; p < 0.001), ESR (r = ?0.321; p < 0.001, CRP (r = ?0.265; p < 0.001) and Bath Ankylosing Spondylitis Disease Activity Index (BASDAI) (r = ?0.201; p = 0.028). Anti‐TNF‐α therapy induced a significant reduction in the percentage of M1 monocyte, ESR, CRP and BASDAI in AS patients. The present results demonstrated that M2 type polarized monocytes are predominant in the peripheral blood in AS and the M2/M1 ratio is correlated with structural damage (mSASSS), inflammatory biomarkers (ESR and CRP) and BASDAI.     

玻璃体切割术后高眼压的发生率和特点及相关危险因素分析

目的：分析玻璃体切割术后高眼压的发生率、特点及相关的危险因素。
　　方法：回顾性分析在我院行 PPV 手术的患者146例146眼。比较患者的年龄、性别、眼别、病程和手术时间等,以了解高眼压的发生率和特点。比较患者术前原发疾病、术中处理方式、眼内填充物类型等,以分析发生高眼压的相关危险因素。
　　结果：患者47例术后发生高眼压,发生率为32.2%。高眼压与无高眼压患者在年龄、性别、眼别、病程和手术时间方面无统计学差别(P>0.05)。糖尿病伴单纯性玻璃体积血和伴牵拉性视网膜脱离患者高眼压发生率分别为21.1%和57.6%( P<0.05)。 RD伴PVR C2级以下和C2级以上患者高眼压发生率分别为19.0%和43.8%(P<0.05)。眼外伤伴玻璃体积血和伴眼内异物患者高眼压发生率分别为25.0%和70.0%(P<0.05)。行全视网膜光凝患者高眼压发生率为50.8%,高于未行激光光凝组患者( P<0.05)。行部分视网膜光凝患者高眼压发生率为29.5%,高于未行激光光凝组患者,但二者比较并无统计学差异(P>0.05)。采用硅油、C3F8和单纯换气的患者术后高眼压发病率分别为59.7%,34.5%和14.5%,前两者与单纯换气比较具有统计学差异(P<0.05)。
　　结论：玻璃体切割术后高眼压发生率与术前原发疾病、术中处理方式和眼内填充物等因素密切相关。     

综合治疗儿童弱视255例疗效观察

目的：探讨综合治疗各种类型儿童弱视的疗效。

方法：对确诊为弱视的患儿255例386眼,采用戴镜矫正、遮盖疗法、增视能训练系统、CAM训练、红光刺激等综合治疗。并对弱视的年龄、类型及弱视程度与疗效关系进行分析。

结果：弱视治疗总有效率为94%,总治愈率为71%。轻度弱视、3～6岁年龄段和屈光不正性弱视治愈率最高。

结论：综合治疗法对儿童弱视疗效确切,年龄、弱视类型及弱视程度对疗效影响显著。     

乳腺原发性恶性周围神经鞘膜瘤一例

本文报道乳腺原发性恶性周围神经鞘膜瘤1例。患者女,18岁。主要临床表现为右侧乳房肿块,呈无痛进行性增大。超声表现为右侧乳房混合性巨大囊实性包块,边界尚清,可见少许血流;MRI表现为右侧乳房一巨大肿块,反转恢复序列脂肪抑制T2WI呈不均匀高信号,内见低信号分隔影,T1WI呈等低信号,边界清晰,DWI上肿瘤信号不均,以高信号为主,动态增强扫描示瘤体边缘及实性成分呈斑片状、结节状不均匀明显强化。病理诊断:右侧乳腺恶性周围神经鞘膜瘤。     

鞍区毛细胞黏液样星形细胞瘤MRI表现

目的观察发生于鞍区的毛细胞黏液样星形细胞瘤(PMA)的MRI特点。方法回顾性分析经手术病理证实的21例PMA的MRI表现。结果 MRI图像上,21例PMA具有如下特点:肿瘤均呈不规则分叶状,边界清楚,体积较大[最大径29.13~73.25mm,平均(47.52±15.33)mm],肿瘤最长轴多为腹背方向(11/21,52.38%)。MR平扫肿瘤病灶信号多不均匀,T1WI多呈等、低信号(16/21,76.19%),T2WI多呈高信号(21/21,100%),部分内见低信号(13/21,61.90%)。增强扫描肿瘤多为明显不均匀强化(20/21,95.24%),常可见多发微小囊样表现(11/21,52.38%)。21例中,20例发生脑积水,9例发生蛛网膜下腔播散。结论 PMA的MRI表现具有一定的特征性,应用多种MR检查方法,结合患者的年龄及临床表现,有助于其术前诊断。     

阿托伐他汀对植入双腔心脏起搏器的病态窦房结综合征患者左心室重构的影响

目的:探讨阿托伐他汀对植入双腔心脏起搏器(DDD)的病态窦房结综合征(SSS)患者左心室重构的影响。方法:选择在本院心血管内科住院并行DDD植入术的SSS患者108例为研究对象,随机分为常规治疗组(54例,起搏器植入后给予常规抗心律失常药物治疗)和阿托伐他汀组(54例,在常规治疗基础上给予阿托伐他汀治疗)。6个月后,比较两组手术前后左心室重塑指标、心功能指标、心房高频事件(AHREs)发作次数、AHREs持续时间等变化,同时记录治疗期间不良反应。结果:术后6个月,与常规治疗组比较,阿托伐他汀组左室射血分数(LVEF)[(63.91±5.12)%比(65.84±4.85)%]显著提高,LVEDd[(44.26±4.05)mm比(42.48±3.84)mm]和LVESd[(30.89±3.17)mm比(29.31±2.84)mm]显著减小(P<0.05或<0.01);血浆BNP[(127.84±30.84)pg/ml比(98.18±25.95)pg/ml]和NT-proBNP[(313.57±61.56)pg/ml比(269.46±54.48)pg/ml]水平显著降低(P均=0.001);AHREs发作次数[(285.38±45.54)次/年比(263.36±51.28)次/年]和AHREs时间[(17.32±7.54)h/年比(12.74±7.32)h/年]均显著减少(P<0.05或<0.01)。两组治疗期间均未出现肌溶解、转氨酶显著升高(3倍以上)等不良反应。结论:阿托伐他汀可逆转双腔心脏起搏器植入术后病态窦房结综合征患者左心室重构,提高心功能,减少术后心房颤动的发生,且安全性高。