南京地区21例SLC25A13基因突变所致Citrin蛋白缺陷引发新生儿肝内胆汁淤积症临床分析

目的探讨南京地区新生儿特发性胆汁淤积症(INC)中Citrin蛋白缺陷导致的肝内胆汁淤积症(NICCD)的发病率、SLC25A13基因突变及临床特点。方法对2009年9月到2013年8月南京医科大学附属南京儿童医院收治的152例INC患儿进行SLC25A13基因突变分析。对确诊NICCD的患儿根据年龄及性别与INC患儿进行1∶2配对,比较两组之间的生化指标。计量资料组间比较经Bonferroni校正后采用Mann-Whitney U检验。结果 152例INC患儿中经SLC25A13基因突变分析确诊为NICCD21例(21/152,13.82%),5种突变类型分别为851_854del(27/42,64.29%)、IVS6+5 G→A(7/42,16.67%)、1638ins23(5/42,11.90%)、IVS11+1 G→A(2/42,4.76%)、Q259X(1/42,2.38%)。NICCD组ALT、AST、胆汁酸、白蛋白、空腹血糖、血氨、凝血酶原时间分别为(39.42±23.40)U/L、(124.85±92.65)U/L、(142.43±24.34)μmol/L、(30.66±2.70)g/L、(2.79±0.54)mmol/L、(117.57±27.88)μmol/L、(14.03±2.79)s;INC组ALT、AST、胆汁酸、白蛋白、空腹血糖、血氨、凝血酶原时间分别为(136.02±113.67)U/L、(226.12±129.26)U/L,(80.47±31.53)μmol/L、(36.87±4.96)g/L、(3.14±0.45)mmol/L、(76.43±20.80)μmol/L、(11.40±1.55)s。NICCD组ALT、AST低于INC组,差异有统计学意义(Z=-5.02,P=0.000;Z=-3.66,P=0.000);NICCD组胆汁酸高于INC组,差异有统计学意义(Z=-5.58,P=0.000);NICCD组白蛋白、空腹血糖低于INC组,差异有统计学意义(Z=-4.52,P=0.000;Z=-2.56,P=0.010);NICCD组血氨高于INC组,差异有统计学意义(Z=-4.75,P=0.000);NICCD组凝血酶原时间较INC组延长,差异有统计学意义(Z=-4.10,P=0.000)。结论 SLC25A13基因突变所致Citrin蛋白缺陷是南京地区INC的一种重要原因,其中最常见的3种突变分别为851_854del、IVS6+5 GA和1638_1660dup23,占所有SLC25A13等位基因变异的92.86%。重视临床分析及SLC25A13基因突变检测是明确诊断NICCD的重要手段。     

血氨基酸异常婴儿肝内胆汁淤积症患者SLC25A13基因的突变谱

目的 探讨血氨基酸异常婴儿肝内胆汁淤积症中是否存在SLC25A13基因突变及其突变谱特征.方法 对2003年6月-2007年6月就诊于复旦大学附属儿科医院的不明原因婴儿肝内胆汁淤积症患儿进行血氨基酸质谱分析,将检测有瓜氨酸、蛋氨酸至少一项2倍以上升高者共14例进行基因研究.全部入选对象先行SLC25A13基因的12种突变位点([Ⅰ]851de14、[Ⅱ]IVS11+1G>A、[Ⅲ]1638ins23、[Ⅳ]S225X、[Ⅴ]IVS13+1G>A、[Ⅵ]1800insl、[Ⅶ]R605X、[Ⅷ]E601X、[Ⅸ]E601K、[Ⅹ]IVS6+5G>A、[Ⅺ]R184X及[ⅪⅤ]IVS6+1G>C)的检测.对仅检出单个位点突变的研究对象,继续进行所有外显子区及其邻近序列分析.结果 检出SLC25A13基因突变8例,包括复合杂合突变851de14/1638ins23 2例,纯合突变851de14/851de14、复合杂合突变851de14/R184X及纯合突变IVS6+1G>A/IVS6+1G>各1例,杂合突变851de14 3例,其中纯合突变IVS6+1G>A/IVS6+1G>A是一种新型突变.结论 血氨基酸异常婴儿肝内胆汁淤积症中存在SLC25A13基因突变.[Ⅰ]851de14、[Ⅲ]1638ins23是中国SLC25A13基因的常见突变形式,新发现1例纯合突变IVS6+1G>A/IVS6+1G>A,和国外报道突变谱存在明显区别.     

SLC25A13基因突变与婴儿胆汁淤积症遗传代谢病的关系

目的探讨SLC25A13基因突变与婴儿胆汁淤积症遗传代谢病的关系。方法随机选取2016年8月至2018年8月四川省妇幼保健院婴儿胆汁淤积症患儿126例,将这些患儿作为研究组,另随机选取同期我院年龄段相同、具有正常肝功能、无肝炎家族史的正常婴儿100例作为对照组,分析其血串联质谱分、尿气相色谱质谱有机酸,提取基因组DNA,扩增SLC25A13基因,进行PCR-SSCP,测序分析Citrin缺陷病基因,然后分析5例疑似为新生儿肝内胆汁淤积症患儿的肝功能、5例考虑为Citrin缺陷病患儿血串联质谱、尿气相质谱。结果 5例疑似为新生儿肝内胆汁淤积症患儿的甲硫氨酸、瓜氨酸、苏氨酸、C14-1、C16-1、苯乳酸-2、4-羟基苯乳酸均升高,1、3、4、5患儿的酪氨酸、C18-1、4-羟基苯丙酮酸均升高,1、2、3、5患儿的4-羟基苯乙酸-2均升高。SSCP筛查其余婴儿的7个外显子PCR产物,7个外显子均无异常条带,测序均无相关的12种常见突变。结论 SLC25A13基因突变与婴儿胆汁淤积症遗传代谢病无显著关系。     

南京地区21例SLC25A13基因突变致Citrin蛋白缺陷引发新生儿肝内胆汁淤积症的临床分析

目的：探讨南京地区新生儿特发性胆汁淤积症（INC）中 Citrin 蛋白缺陷导致的肝内胆汁淤积症（NICCD）的发病率、SLC25A13基因突变及临床特点。方法对2009年9月到2013年8月南京医科大学附属南京儿童医院收治的152例INC患儿进行SLC25A13基因突变分析。对确诊NICCD的患儿根据年龄及性别与INC患儿进行1∶2配对,比较两组之间的生化指标。计量资料组间比较经Bonferroni校正后采用Mann－Whitney U检验。结果152例INC患儿中经SLC25A13基因突变分析确诊为NICCD 21例（21/152,13．82％）,5种突变类型分别为851＿854del（27/42,64.29％）、IVS6＋5 G→A （7/42,16．67％）、1638ins23（5/42,11．90％）、IVS11＋1 G→A （2/42,4．76％）、Q259X （1/42,2．38％）。NICCD组ALT、AST、胆汁酸、白蛋白、空腹血糖、血氨、凝血酶原时间分别为（39．42±23．40）U/L、（124．85±92．65）U/L、（142．43±24.34）μmol/L、（30．66±2．70）g/L、（2．79±0．54）mmol/L、（117．57±27．88）μmol/L、（14．03±2.79）s;INC组ALT、AST、胆汁酸、白蛋白、空腹血糖、血氨、凝血酶原时间分别为（136．02±113．67） U/L、（226．12±129．26）U/L,（80．47±31．53）μmol/L、（36．87±4．96）g/L、（3．14±0．45）mmol/L、（76．43±20．80）μmol/L、（11．40±1．55）s。NICCD组 ALT、AST低于INC组,差异有统计学意义（Z＝－5．02,P＝0.000;Z＝－3．66,P＝0．000）;NICCD组胆汁酸高于INC组,差异有统计学意义（Z＝－5.58,P＝0．000）;NICCD组白蛋白、空腹血糖低于INC组,差异有统计学意义（Z＝－4．52,P＝0．000;Z＝－2．56,P＝0．010）;NICCD组血氨高于INC组,差异有统计学意义（Z＝－4．75,P＝0．000）;NICCD组凝血酶原时间较INC组延长,差异有统计学意义（Z＝－4．10,P＝0．000）。结论 SLC25A13基因突变所致Citrin蛋白缺陷是南京地区INC的一种重要原因,其中最常见的3种突变分别为851＿854del、IVS6＋5 G＞A和1638＿1660dup23,占所有SLC25A13等位基因变异的92．86％。重视临床分析及SLC25A13基因突变检测是明确诊断NICCD的重要手段。     

Citrin缺陷致新生儿肝内胆汁淤积症40例临床分析

目的 分析Citrin缺陷导致的新生儿肝内胆汁淤积症(NICCD)的临床特征、SLC25A13基因突变类型及早期预后,以提高儿科医生对该病的诊治水平.方法 回顾性分析40例NICCD患儿的临床特征、基因结果及治疗转归,并进一步分析不同喂养方式下肝功能指标恢复情况有无差异.结果 NICCD患儿出生体重偏低(2.92±1....     

北方地区单中心Citrin蛋白缺陷所致婴儿肝内胆汁淤积症23例临床特征及基因分析

目的探讨北方地区Citrin蛋白缺陷所致的婴儿胆汁淤积症的临床特征及基因突变特点。方法选取2015年1月—2018年12月首都儿科研究所附属儿童医院消化内科经血串联质谱和/或基因检测诊断的23例北方地区Citrin蛋白缺陷所致的肝内胆汁淤积症(NICCD)患儿为NICCD组,同时期经过一系列系统检查后仍未明确病因的36例特发性肝内胆汁淤积症(INC)患儿为INC组,回顾性分析NICCD组患儿的临床表现、实验室检查结果、病理、血尿代谢筛查和基因结果,随访患儿转归情况,并对两组生化指标进行比较。符合正态分布的计量资料两组间比较采用独立样本t检验;非正态分布的计量资料两组间比较采用MannWhitneyU检验。计数资料两组间比较采用χ~2检验。结果 23例NICCD患儿中,伴有低血糖患儿10例,伴有低白蛋白血症患儿13例,伴有高血氨患儿17例,伴有高乳酸患儿15例;15例LDL升高,6例胆固醇升高,7例甘油三酯升高;17例PT延长,16例患儿APTT延长。与INC组对比,NICCD组GGT、TBA、活化部分凝血活酶时间(APTT)明显高于INC组,Alb较INC组为低,差异均具有统计学意义(Z=-2.487、Z=-3.528、t=3.532、t=-2.24,P值均0.05)。NICCD组患儿血串联质谱中最常见异常是精氨酸、瓜氨酸、甲硫氨酸及游离肉碱、长链酰基肉碱水平的升高,尿气相色谱提示最常见的4-羟基苯乳酸、半乳糖、半乳糖醇、半乳糖酸的升高。23例均行基因检测,发现致病突变16种,其中新发现突变7种,为IVS14-9A G、c1640 G A、c. 762T A、c. 736delG、c. 1098T del、c. 851G A、c. 550G A。除2例患儿失访外,21例患儿经过治疗2～6个月后转氨酶及胆红素水平逐渐恢复正常,随访至1岁,患儿均无生长发育落后,其中2例患儿出现饮食偏好(喜食鱼类、肉类,不喜主食)。结论血GGT、TBA、Alb、APTT指标的异常可为NICCD与INC鉴别诊断提供思路。北方地区NICCD基因突变具有异质性,大部分患儿预后良好。     

以肝硬化腹腔积液为特征表现的Citrin蛋白缺陷所致新生儿肝内胆汁淤积症1例报告

<正>Citrin蛋白缺陷引起的新生儿肝内胆汁淤积症(neonatal intrehepatic cholestasis caused by Cirtin deficiency,NICCD)是编码Citrin蛋白SLC25A13基因突变引起的常染色体隐性遗传病[1-2],其主要临床表现为婴儿(包括新生儿)肝内胆汁淤积。以肝细胞黄疸、肝功能异常、肝肿大和肝脂肪变性、肝细胞及毛细胆管淤胆为特征,部分NICCD患儿在肝内胆汁淤积消失后可     

南京地区21例SLC25A13基因突变致Citrin蛋白缺陷引发新生儿肝内胆汁淤积症的临床分析

目的：探讨南京地区新生儿特发性胆汁淤积症（INC）中Citrin蛋白缺陷导致的肝内胆汁淤积症（NICCD）的发病率、SLC25A13基因突变及临床特点。方法对2009年9月到2013年8月南京医科大学附属南京儿童医院收治的152例INC患儿进行SLC25A13基因突变分析。对确诊NICCD的患儿根据年龄及性别与INC患儿进行1∶2配对,比较两组之间的生化指标。计量资料组间比较经Bonferroni校正后采用Mann－WhitneyU检验。结果152例INC患儿中经SLC25A13基因突变分析确诊为NICCD21例（21/152,13．82％）,5种突变类型分别为851＿854del（27/42,64.29％）、IVS6＋5G→A（7/42,16．67％）、1638ins23（5/42,11．90％）、IVS11＋1G→A（2/42,4．76％）、Q259X（1/42,2．38％）。NICCD组ALT、AST、胆汁酸、白蛋白、空腹血糖、血氨、凝血酶原时间分别为（39．42±23．40）U/L、（124．85±92．65）U/L、（142．43±24.34）μmol/L、（30．66±2．70）g/L、（2．79±0．54）mmol/L、（117．57±27．88）μmol/L、（14．03±2.79）s;INC组ALT、AST、胆汁酸、白蛋白、空腹血糖、血氨、凝血酶原时间分别为（136．02±113．67）U/L、（226．12±129．26）U/L,（80．47±31．53）μmol/L、（36．87±4．96）g/L、（3．14±0．45）mmol/L、（76．43±20．80）μmol/L、（11．40±1．55）s。NICCD组ALT、AST低于INC组,差异有统计学意义（Z＝－5．02,P＝0.000;Z＝－3．66,P＝0．000）;NICCD组胆汁酸高于INC组,差异有统计学意义（Z＝－5.58,P＝0．000）;NICCD组白蛋白、空腹血糖低于INC组,差异有统计学意义（Z＝－4．52,P＝0．000;Z＝－2．56,P＝0．010）;NICCD组血氨高于INC组,差异有统计学意义（Z＝－4．75,P＝0．000）;NICCD组凝血酶原时间较INC组延长,差异有统计学意义（Z＝－4．10,P＝0．000）。结论SLC25A13基因突变所致Citrin蛋白缺陷是南京地区INC的一种重要原因,其中最?     

2015年5月—2021年12月于菏泽市出生的296 106例新生儿希特林蛋白缺乏致肝内胆汁淤积症的筛查

目的 了解2015年5月—2021年12月于菏泽市出生的296 106例新生儿希特林蛋白缺乏致肝内胆汁淤积症的筛查情况。方法 采集2015年5月—2021年12月菏泽市出生的296 106例新生儿足跟血，筛查新生儿中希特林蛋白缺乏致肝内胆汁淤积症，初筛手段为液相色谱串联质谱检测，复筛手段为液相色谱串联质谱、气相色谱质谱、血甲胎蛋白（AFP）、SLC25A13基因检测。结果 确诊希特林蛋白缺乏致肝内胆汁淤积症患儿16例，患病率16/296 106，检出率13/16；其中初筛因特异性瓜氨酸值升高确诊8例，非特异性指标值异常复筛确诊5例，发病后复筛确诊3例。与初筛相比，复筛部分串联质谱结果有显著改变，尿气相色谱、血AFP、SLC25A13基因等各项检查结果均有明显异常；共发现11个SLC25A13基因突变位点，以c. 852＿855del最常见，占50%，其次为IVS16ins3kb，占33%。结论 希特林蛋白缺乏致肝内胆汁淤积症大部分病例可通过串联质谱技术初筛出来，复筛应联合尿气相色谱、血AFP、SLC25A13基因检测等以提高此病的检出率。     

Citrin缺乏所致新生儿肝内胆汁淤积症预后分析

目的探讨Citrin缺乏所致新生儿肝内胆汁淤积症(NICCD)患儿临床和实验室检查特征、突变基因及预后。方法以2017年1月至2019年12月成都市妇女儿童中心医院经基因确诊为Citrin缺乏所致新生儿肝内胆汁淤积症患儿6例为研究对象。收集其临床及实验室检测数据,并进行随访。结果 6例患儿平均出生体质量为2.95 kg,均于婴儿期起病。4例以皮肤黄染退而复现就诊,1例以生长迟缓就诊,1例以腹胀就诊。实验室检查结果提示6例患儿AST、γ-谷氨酰转肽酶、碱性磷酸酶、总胆红素、直接胆红素、总胆汁酸均升高,3例患儿ALT升高,2例伴血乳酸升高以及3例甲胎蛋白升高,1例白蛋白降低、2例活化部分凝血活酶时间延长。基因分析提示SLC25A13基因突变,包括:c.852-855del、c.615+5GA、c.1177+1GA、IVS16ins3kb、c.1362CG、1210GT c.1660-c.1661insGAGATTACAGGTGGCTGCCCGGG。就诊后予以无乳糖、强化中链甘油三酯配方奶喂养,其中5例平均治疗24 d症状明显缓解,1岁以内肝功能完全恢复正常,病例6就诊时已出现肝硬化、腹水、肝功能衰竭,伴发感染,最终放弃治疗。平均随访年龄1岁9月,均有喜高蛋白高脂饮食偏好。结论胆汁淤积性肝病患儿原因分析时应考虑到NICCD,早期就诊,早期行基因分析有助于早期确诊,确诊后给予饮食干预,治疗效果好,预后可,但仍需长期随访。     

The immunoneuroendocrine role of melatonin

Abstract: A tight, physiological link between the pineal gland and the immune system is emerging from a series of experimental studies. This link might reflect the evolutionary connection between self-recognition and reproduction. Pinealectomy or other experimental methods which inhibit melatonin synthesis and secretion induce a state of immunodepression which is counteracted by melatonin. In general, melatonin seems to have an immunoenhancing effect that is particularly apparent in immunodepressive states. The negative effect of acute stress or immunosuppressive pharmacological treatments on various immune parameters are counteracted by melatonin. It seems important to note that one of the main targets of melatonin is the thymus, i.e., the central organ of the immune system. The clinical use of melatonin as an immunotherapeutic agent seems promising in primary and secondary immunodeficiencies as well as in cancer immunotherapy. The immunoenhancing action of melatonin seems to be mediated by T-helper cell-derived opioid peptides as well as by lymphokines and, perhaps, by pituitary hormones. Melatonin-induced-immuno-opioids (MHO) and lymphokines imply the presence of specific binding sites or melatonin receptors on cells of the immune system. On the other hand, lymphokines such as -γ-interferon and interleukin-2 as well as thymic hormones can modulate the synthesis of melatonin in the pineal gland. The pineal gland might thus be viewed as the crux of a sophisticated immunoneuroendocrine network which functions as an unconscious, diffuse sensory organ.     

Response of rat pineal melatonin to calcium, magnesium, and lithium is circadian stage dependent

Abstract: Herein we documented the response of pineal melatonin production to electrolytes known to be effective on pineal function in view of a possible circadian stage dependence. We studied the release of melatonin by perifused rat pineal glands at 2 different circadian stages corresponding to the middle of the light and dark periods, i.e., respectively, 7 and 19 HALO (Hours After Light Onset, L:D = 12:12). The initial efflux rates were, as expected, much higher in the perifusates of glands removed from rats sacrificed during the dark phase than of those removed during the light phase. After 3 hr of perifusion, melatonin release reached similar levels which were found constant up to the 8th hr of perifusion, whatever the circadian stage. Perifusion of the glands with physiological concentrations for the rat of calcium (5.2 mmol/1) and magnesium (1.34 mmol/1) resulted in a stimulatory effect on the pineal glands removed from rats sacrificed in the middle of the dark period (19 HALO), whereas no effects were observed on the pineal glands removed from rats sacrificed during the light (7 HALO). Lithium (0.28 and 0.55 mmol/1) was ineffective on melatonin release in pineal glands removed 7 and 19 HALO. Our results show differences in the initial efflux rates of melatonin and in the response of perifused pineal glands to calcium and magnesium according to the circadian stage.     

Changes in connexin43, the gap junction protein of astrocytes, during development of the rat pineal gland

Abstract: The abundance of gap junctions between rat pineal astrocytes formed by connexin43 (Cx43) was studied during development. Levels and distribution of Cx43 were measured by immunoblotting and indirect immunofluorescence, respectively. The amount of Cx43 in cells located within the gland was low until about the 7th postnatal day and increased to adult values between the 14th and 21st days postpartum. Although astrocytes, recognized by their vimentin immunoreactivity, were scarce before birth, they were abundant by the 7th postnatal day suggesting that the low levels of Cx43 found at this age corresponded to a low expression of this protein. Localization of the immunoreactivity to Cx43 and vimentin showed a close correlation, indicating that mature or immature pineal astrocytes form gap junctions made of Cx43. Since Cx43 levels attained their adult values at about the time the innervation and the functional state of the gland reached maturity (2–3 weeks after birth), it is proposed that astrocyte gap junctions are involved in the function of the adult rat pineal gland.     

Conservative management of perforated duodenal diverticulum： A case report and review of the literature

Duodenal diverticula are a relatively common condition. They are asymptomatic, unless they become complicated, with perforation being the rarest but most severe complication. Surgical treatment is the most frequently performed approach. We report the case of a patient with a perforated duodenal diverticulum, which was diagnosed early and treated conservatively with antibiotics and percutaneous drainage of secondary retroperitoneal abscesses. We suggest this method could be an acceptable option for the management of similar cases, provided that the patient is in good general condition and without septic signs.     

Presence of immunoreactive growth hormone and prolactin in the ovine pineal gland

Abstract: The use of antisera raised against bovine growth hormone (GH) and ovine prolactin (PRL) enabled the detection of related immunoreactive (ir) sequences of proteins in ovine pineal tissue. The isolation of PRL-like ir-material was accomplished using a 0.25 M ammonium sulphate (pH 5.5) extraction followed by ethanol precipitation, whereas the resulting 2.0 M ammonium sulphate (pH 7.0) precipitate contained a GH-like immunoreactivity. Gel chromatography of the GH-like immunoreactivity (Sephadex G-100) indicated the presence of several GH-like fragments ranging in the M_r range of 7,000 to 55,000. Analyses of the PRL-like ir-material found in pineal tissue on HPLC using a TSK 545-DEAE column led to the resolution into a single peak of immunoreactivity. A single peak of activity was also observed following chromatofocusing and hydrophobic interaction chromatography of the ir-peak from the TSK 545-DEAE column. The PRL-like ir-material inhibited the binding of [¹²⁵I]ovine PRL-S14 to anti-ovine PRL antibodies without showing an affinity for binding to anti-rat PRL or anti-bovine GH antibodies. Scatchard analysis of the binding of pineal PRL-like ir-material and pituitary ovine PRL-S14 to liver membranes from day-20 pregnant rats revealed similar affinity constants (K_a of 4.7 ± 0.2 × 10⁹ M^-1). In addition, the replication of Nb 2 Node rat lymphoma cells was stimulated by pineal PRL-like ir-material, an effect known to be specific for lactogenic hormones. The pineal PRL-like immunoreactivity appeared on sodium dodecyl sulfate polyacrylamide gels as a single major band of M_r 24,000. The functional status of PRL-and GH-like ir-material in the ovine pineal remains to be determined, but evidence is presented that the overall protein synthesis rate of the rat pineal responded to circulating concentrations of PRL.     

Microbiology of human immunodeficiency virus anorectal disease

PURPOSE: Individuals who are seropositive for the human immunodeficiency virus are at high risk for opportunistic infection and anorectal disorders. Little prospective information is available regarding anorectal pathogens in these patients. METHODS: One hundred sixty-three HIV-seropositive patients presented to the colorectal clinic between 1989 and 1992. Forty-seven (29 percent) patients were thought to have an infectious process and were prospectively studied using a standardized multiculture protocol. RESULTS: Mean age was 33 (range, 19–59) years. All were male; high-risk behavior accounted for 87 percent of HIV transmissions. Presenting complaints included anorectal pain (79 percent), pus per anum (28 percent), and blood per anum (26 percent). Examination revealed perianal tenderness (60 percent), condyloma (38 percent), perianal ulcers (38 percent), and anal fissures (34 percent). Sixty-six sets of cultures were performed; 28 patients had one set, 15 had two sets, and 4 had three sets. Thirty-two of these 47 patients (68 percent) had positive cultures including herpes (50 percent), cytomegalovirus (25 percent),Neisseria gonorrhoeae (16 percent), chlamydia (16 percent), acidfast bacilli (2 percent), and others (9 percent). Six of 32 patients with positive cultures had more than one organism cultured. Sixteen (50 percent) patients with positive cultures were treated medically, 8 (25 percent) were treated surgically and 8 (25 percent) were treated with both modalities. Sixty-one procedures were performed on 17 patients for condylomata. Eighteen patients had 20 procedures for abscesses, 50 percent of whom had positive cultures for other than common bowel flora; all improved. Fourteen patients underwent 33 procedures for perianal fistulas.Mycobacterium fortuitum was cultured from one patient who required 13 procedures for abscesses and fistulas. Forty-five (96 percent) patients were followed for an average of 12.5 months ±2.9 SEM (range, 1–94 months). Symptoms were improved or resolved in 22 of 32 (69 percent) patients with positive cultures and in 11 of 13 (84 percent) with negative cultures. CONCLUSIONS: Specific pathogens may often be identified in human immunodeficiency virus-seropositive patients with anorectal disorders if aggressively sought. Although patients without specific pathogens identified may be expected to improve with planned empiric treatment, positive identification allows more directed therapy.