目的 探讨婴儿胆汁淤积症为表现的钠牛磺胆酸共转运多肽（NTCP）缺陷病临床特点，提高临床医生对疾病的认识。方法：回顾总结分析12例因婴儿胆汁淤积症于2018年1月-2024年12月广州医科大学附属妇女儿童医疗中心就诊并经基因检测确诊为NTCP基因缺陷病患儿的临床特征、肝功能特点、基因结果及预后转归。结果：12例患儿基因组测序结果均存在SLC10A1基因纯合突变：c.800C>T(p.Ser267Phe)，就诊中位年龄2.1月，临床表现为黄疸伴大便颜色浅；肝功能表现为顽固的高胆汁酸血症及以直接胆红素升高为主的高胆红素血症,ALT、AST水平升高者10例，伴肝肿大者5例，脾肿大者4例，经治疗后黄疸消退中位时间5个月，3例患儿行胆道冲洗及肝活检，所有患儿生长发育均无异常。 结论 NTCP 缺陷病在婴儿期可表现为胆汁淤积症，肝功能异常除高胆汁酸血症外，以直接胆红素升高为主的高胆红素血症为典型表现；本病预后良好，早期行基因检测可避免有创或过度检查

To explore the clinical features of sodium taurocholate cotransporting polypeptide (NTCP) defective disease manifested by infantile cholestasis and to improve clinicians' understanding of the disease.Methods A retrospective summary and analysis were conducted of the clinical features, liver function features, genetic findings, and prognosis of 12 children who were diagnosed with NTCP gene deficiency disease by genetic testing at The Women's and Children's Medical Center Affiliated to Guangzhou Medical University between January 2018 and December 2024 as a result of infantile cholestasis. Results 12 children were diagnosed with NTCP gene defects at a median age of 2.1 months, and all of them had a pure mutation in the SLC10A1 gene (c.800C>T(p.Ser267Phe)) by genome sequencing. Intractable hyperbilirubinemia and hyperbilirubinemia with primarily elevated direct bilirubin, elevated ALT and AST levels in 10 cases, hepatomegaly in 5 cases, splenomegaly in 5 cases, and elevated bile levels in the liver were among th

      目的   分析布鲁氏菌病的临床表现以及实验室检查结果中的关键特征，系统总结布鲁氏菌病的诊断流程和治疗策略。方法   选择2013年11月—2023年11月在延边大学附属医院通过血清虎红平板凝集试验（RBT）及试管凝集试验（SAT）检测技术确诊的70名布鲁氏菌病住院病例，对患者的流行病学资料、临床表现特征以及常规实验室检查结果进行回顾性分析，进而总结临床特点。结果  70例布鲁氏菌病患者中，男性占84.29%，中位年龄45岁（IQR 35~58岁）；91.43%具有牛/羊接触史。急性期占92.86%，主要症状为发热（100%）、多汗（88.57%）、关节痛（84.29%）及肝脾肿大（55.71%），90%为不规则热型。误诊率27.14%，多误诊为败血症或骨关节疾病。联合抗菌药物治疗（利福平+多西环素）有效。结论   延边州布鲁氏菌病非典型症状（如不规则热型）增加导致误诊率高。流行病学史（牛/羊接触史）是诊断关键。需强化对有牛羊接触史人群的防护意识及措施，提高临床对接触史线索和不规则热型等非典型表现的识别能力，规范治疗并控制传染源以遏制疫情。

   Objective  To analyze the clinical manifestations of  brucellosis and the  key characteristics in laboratory testing，and systematically summarize the diagnostic process and treatment strategies of brucellosis．Methods  The 70 patients with brucellosis diagnosed via rose bengal test（RBT）and standard agglutination test（SAT） were at Yanbian University Affiliated 

Hospital from November 2013 to November 2023．This study conducted a retrospective analysis of the epidemiological data，clinical manifestations and routine laboratory pathological examination data of these patients，and the characteristics of clinical changes were summarized．Results  Among the 70 patients with brucellosis，84.29% were male，with a median age of 45（IQR 35-58）；91.43% patients had a history of cattle/sheep exposure．The acute phase accounted for 92.86%，and the main symptoms were fever（100%），sweating（88.57%），arthragia（84.29%），hepatosplenomegaly（55.71%），and 90% were irregular fever．The misdiagnosis rate was 27.14%，and most of them were misdiagnosed as sepsis or osteoarthritis．Combined treatment with antibiotics（rifampin + doxycycline）was effective．Conclusions  The increase in atypical symptoms（such as irregular heat type）leads to a high misdiagnosis rate．Epidemiological history（cattle/sheep contact）is the key to diagnosis．It is necessary to strengthen occupational protection and atypical case identification，standardize treatment and control the source of infection to curb the epidemic．

目的 分析120例动眼神经麻痹患者的病因及临床特点。方法 收集2019年5月—2021年7月我科收治的120例动眼神经麻痹患者临床资料进行分析,统计所有患者的病因、临床特点、治疗结果。结果 120例患者均急性起病,单眼发病105例(87.50%)、双眼发病15例(12.50%),所有患者均有不同程度的上睑下垂、眼球外下斜视、眼球转动受限、复视,入选患者中年龄构成占比最大的为41~60岁(49例,40.83%);在120例动眼神经麻痹患者中,明确诊断103例(85.83%)、病因诊断未明确17例(14.17%),完全性动眼神经麻痹23例(19.17%)、不完全性动眼神经麻痹97例(80.83%)。病因占比最多的分别是糖尿病18例(15.00%)、动脉瘤16例(13.33%)、脑梗死15例(12.50%);持续治疗3个月后,痊愈者88例(73.33%)、有效者21例(17.50%),无效者11例(9.17%)。结论 动眼神经麻痹的病因以糖尿病、动脉瘤、脑梗死最为常见,临床表现可有不同程度的上睑下垂、眼球外下斜视、眼球转动受限、复视,大多数患者经过积极治疗后可痊愈或好转,在临床中需结合多种诊断技术及原发性疾病进行诊断和治疗。

Objective To analyze the etiology and clinical characteristics of 120 patients with oculomotor nerve paralysis. Methods The clinical data of 120 patients with oculomotor paralysis treated in our department from May 2019 to July 2021 were collected and analyzed, and the etiology, clinical characteristics and treatment results of all patients were summarized. Results All 120 patients had acute onset, 105 cases (87.50%) had monocular onset and 15 cases (12.50%) had binocular onset.All patients had different degrees of ptosis, exophthalmos, hypotropia, limited eye rotation and diplopia.The largest age composition among the selected patients was 41 ~ 60 years old (49 cases, 40.83%).Among 120 patients with oculomotor nerve palsy, 103 cases (85.83%) were clearly diagnosed, 17 cases (14.17%) were not, 23 cases (19.17%) were complete oculomotor nerve palsy and 97 cases (80.83%) were incomplete oculomotor nerve palsy.The most common causes were diabetes mellitus (18 cases, 15%), aneurysms (16 cases, 13.33%), and cerebral infarction (15 cases, 12.50%).After 3 months of continuous treatment, 88 cases (73.33%) were cured, 21 cases (17.50%) were improved and 11 cases (9.17%) had few changes. Conclusions The main causes of oculomotor nerve palsy were diabetes mellitus, aneurysm and cerebral infarction.The clinical manifestations could be varying degrees of ptosis, exophthalmos and strabismus, limited rotation of eyeball and diplopia.Most patients could be cured or improved after treatment.In clinical practice, a variety of diagnostic techniques and primary diseases should be combined to diagnose and treat those patients.

目的 探讨胆囊十二指肠内瘘并发胆石性肠梗阻患者临床特点。方法 回顾性分析2018年1月—2020年12月期间我院收治13例胆囊十二指肠内瘘并发胆石性肠梗阻患者(观察组),另选择同期胆囊结石13例作为对照,记录并比较2组多普勒彩色超声、上腹CT等临床资料,采用全自动生化分析仪法检测肝功能和血常规指标 [丙氨酸氨基转移酶(alanine aminotransferase, ALT)、总胆红素(total bilirubin,TBIL)、谷氨酰转移酶(gamma-glutamyl transferase,GGT)、白细胞(white blood cell,WBC],分析2组患者术后相关指标水平变化;采用视觉模拟疼痛量表评分(visual analogue scale,VAS)评价两组术后7 d、3个月的疼痛程度。结果 与对照组相比,观察组中有既往胆囊炎史患者较多(P＜0.05),出现胆囊厚度较厚、结石直径较大症状人数占比均较多(P＜0.05),且观察组所需手术时间、术后感染发生率、住院时间、术后进食流质时间较对照组均较长(P＜0.05);观察组术前、术后3 d血浆WBC、ALT、TBIL、GGT水平均高于对照组(P＜0.05);术后7 d、3个月观察组VAS评分高于对照组(P<0.05)。结论 胆囊十二指肠内瘘并发胆石性肠梗阻患者较单纯胆囊结石患者病情更为复杂严重,血浆炎症因子和肝功能指标水平均上升明显,术后观察组患者血浆WBC水平、肝功能指标水平、VAS评分均高于对照组患者,提示胆囊结石患者应尽早治疗,预防胆囊十二指肠内瘘并发胆石性肠梗阻的发生。

目的 对本院老年重症肺炎患者的临床资料进行回顾性分析,为老年重症肺炎多药耐药菌感染的临床诊疗提供参考。方法 回顾性分析本院医院76例老年重症肺炎患者的病例信息,将患者随机分为研究组和对照组,每组38例,研究组患者在对照组基础上(头孢哌酮／舒巴坦)联合胸腺肽α1治疗。研究2组患者的痰液致病菌分布及其临床特点,通过对比2组患者治疗前后免疫功能指标T淋巴细胞CD4⁺及炎症因子超敏C-反应蛋白(hypersensitive C-reactive protein,hs-CRP)、白介素-6(interleukin-6, IL-6)、肿瘤坏死因子-α(tumor necrosis factor-α, TNF-α)水平变化,对头孢哌酮/舒巴坦联合胸腺肽α1治疗老年重症肺炎的临床效果进行分析。结果 76例老年重症肺炎患者中,共检出143株病原菌,以不动杆菌属为主的革兰氏阴性菌(89株)为主要致病菌株,占比64.3%,革兰氏阳性菌(54株)以葡萄球菌属为主,占比35.7%;排名前3位的主要致病菌为:铜绿假单胞菌(33.6%)、金黄色葡萄球菌(22.4%)和大肠埃希菌(14.7%)。痰液分离出的致病菌出现了普遍的严重耐药性,主要以多药耐药铜绿假单胞菌为主。2组治疗前 T 淋巴细胞CD4⁺、hs-CRP、IL-6、TNF-α水平对比无差异(P＞0.05),治疗后观察组CD4⁺水平更高,而 CRP、TNF-α、IL-6水平更低,与对照组有差异(P＜0.05)。结论 老年重症肺炎多药耐药菌重症肺炎检出病原菌主要以铜绿假单胞菌为主,治疗上联合使用胸腺肽α1,能够有效改善患者的免疫抑制状态、减轻老年患者机体炎症反应,对于提高老年患者临床治疗效果及改善患者预后有着重要的临床意义,值得广泛推广。

目的 探讨华南地区自身免疫性肝炎-原发性胆汁性胆管炎重叠综合征(AIH-PBC OS)临床特点,提高对该病的认识。方法 回顾性总结2010年1月—2020年1月期间收治的居住在华南地区AIH-PBC OS患者37 例,对患者的临床表现、血清学、影像学和病理学特点,伴发肝外自身免疫性疾病等情况进行分析。结果 37例AIH-PBC OS以女性(94.6%)为主,平均发病年龄(48.3±10.3)岁,确诊年龄(50.4±9.2)岁,病程(2.7±2.5)年。83.8%患者存在临床症状,以乏力纳差,身目黄染、尿黄及瘙痒最为常见。在所有患者中,诊断为慢性肝炎为45.9%,代偿性肝硬化为18.9%,失代偿性肝硬化为35.1%,合并肝外自身免疫性疾病占35.1%,以自身免疫性甲状腺疾病和干燥综合征最常见。血清谷丙转氨酶、谷草转氨酶、谷氨酰转肽酶、碱性磷酸酶、总胆红素、总胆固醇、低密度脂蛋白胆固醇水平均升高,失代偿肝硬化期患者血红蛋白和白蛋白下降(P<0.05)。近一半患者血清免疫球蛋白G、免疫球蛋白M和免疫球蛋白A水平升高,失代偿肝硬化期患者免疫球蛋白G升高最为明显(P<0.05)。自身抗体包括抗核抗体阳性率、抗线粒体抗体和(或)抗线粒体抗体M2型抗体阳性率、抗平滑肌抗体阳性率、抗核点蛋白抗体阳性率、抗核包膜蛋白抗体阳性率分别为92%、67.6%、10.8%、11.1%、13.8%。病理学提示AIH-PBC OS患者可见汇管区淋巴细胞和浆细胞浸润,肝小叶界面炎,并伴有不同程度小胆管病变,70.2%同时伴有AIH-PBC特征。肝脏影像学显示在所有患者中,29.7%存在肝硬化,18.9%存在门静脉高压,62.2%存在脾大,18.9%存在腹腔积液。结论 AIH-PBC OS同时具有AIH及PBC疾病的临床特点,病情较复杂、发病较隐蔽;同时伴有血脂代谢障碍,且容易并发肝外自身免疫性疾病。

目的 探讨肠道病毒相关性脑炎患儿的临床特点;以期能为临床医师对该病的认识提供一定的帮助。方法 回顾性分析2018年1月—2019年12月广州市妇女儿童医疗中心感染科收治的37例肠道病毒相关性脑炎患儿的临床相关资料。结果 37例患儿男28例,女9例,男女比例3.11:1。主要临床症状体征发热(97.30%)、口腔疱疹和(或)皮疹(54.05%);常见神经系统症状呕吐(56.76%)、头痛(56.76%)、惊厥(29.72%),其中惊厥及呕吐头痛症状≤1岁组与其他年龄组差异有统计学意义;脑脊液检查白细胞升高为主;所有患儿均康复出院且无神经系统后遗症。结论 儿童肠道病毒相关性脑炎近一半患儿临床无咽部疱疹或皮疹表现,1岁以内患儿主要以发热及惊厥为主要表现,大于1岁尤其学龄前期及学龄期患者以发热呕吐伴头疼为主要表现;早期诊治预后良好。

Objective To explore the clinical characteristics of children with enterovirus associated encephalitis, in order to provide some help for clinicians to understand the disease. Methods The clinical data of 37 children with enterovirus related encephalitis treated in the infection department of Guangzhou Women and Children's Medical Center from January 2018 to December 2019 were analyzed retrospectively. Results There were 28 males and 9 females, with a male to female ratio of 3.11:1. The main clinical symptoms and signs were fever (97.30%), oral herpes and/or rash (54.05%); the common nervous system symptoms were vomiting (56.76%), headache (56.76%) and convulsion (29.72%). There were significant differences in convulsion, vomiting and headache symptoms between ≤ 1 year old group and other age groups. The leukocytes level in cerebrospinal fluid was elevated. All children recovered and discharged without neurological sequelae. Conclusions Nearly half of children with enterovirus associated encephalitis had no clinical manifestations of pharyngeal herpes or rash. The main manifestations of children under 1 year old were fever and convulsion. The main manifestations of children over 1 year old, especially preschool and school-age patients, were fever and vomiting with headache. Early diagnosis and treatment had good prognosis.

目的 探讨艾滋病继发真菌感染患者病情的临床特点与治疗措施。方法 选取2019年4月—2020年4月我院收治的艾滋病继发真菌感染患者90例,对所有患者的病情特点进行分析,并及时采取有效地治疗措施。分析患者真菌感染部位、病情临床特点、治疗效果。结果 患者真菌感染部位中,排在前三位的为口腔、肺、食道,占比为44.4%(40/90)、30.0%(27/90)、23.3%(21/90);90例患者中,感染真菌排在前三位的为白色念珠菌、马尔尼菲青霉菌、新型隐球菌,占比为36.7%(33/90)、24.4%(22/90)、16.7%(15/90);90例患者中,显效32例(35.5%)、有效46例(51.1%)、无效12例(13.4%),有效率为86.6%(78/90)。结论 艾滋病继发真菌感染患者中,感染的主要部位主要为口腔、肺、食道,其中感染的真菌主要有白色念珠菌、马尔尼菲青霉菌、新型隐球菌。对患者及时进行有效地抗逆转录病毒治疗可以降低患者死亡率,提高治疗效果。

Objective To explore the clinical characteristics and treatments of AIDS secondary fungal infection. Methods A total of 90 patients with secondary fungal infection of AIDS admitted to our hospital from April 2019 to April 2020 were selected, and the characteristics of all patients were analyzed, and effective treatment measures were taken in time. The sites of fungal infection, clinical characteristics and therapeutic effects were analyzed. Results The top three fungal infection sites were oral cavity, lung and esophagus, accounting for 44.4% (40/90), 30.0% (27/90) and 23.3% (21/90). Among the 90 patients, candida albicans, penicillium marneffei and cryptococcusneoforme ranked the top three, accounting for 36.7% (33/90), 24.4% (22/90) and 16.7% (15/90). Of the 90 patients, 32 had obvious effects (35.5%), 46 had effective effects (51.1%) and 12 had no effects (13.4%), and the effective rate was 86.6% (78/90). Conclusion In the patients with secondary fungal infection of AIDS, the main sites of infection were oral cavity, lung and esophagus, in which the main infected fungi were candida albicans, penicillium marneffei and cryptococcus neofordii. Timely and effective antiretroviral therapy can reduce the mortality and improve the treatment effect.

目的 探讨继发性肺结核合并肺部真菌感染的临床特点及相关高危因素。方法 收集广州市胸科医院2017年7月—2019年10月收治的继发性肺结核患者资料,病程均大于3个月,分为真菌感染组106例和非真菌感染组100例进行回顾性分析。结果 单因素分析结果显示,合并肺部其他疾病、非初治、咯血、空洞、应用广谱抗生素>l周、侵袭性操作存在统计学差异(P<0.05)。Logistic多因素分析结果显示,广谱抗生素使用>l周、侵袭性操作为真菌感染的独立危险因素(P<0.05)。结论 对于应用广谱抗生素、进行侵袭性操作的肺结核患者应警惕真菌感染风险,及早预防及诊治。

Objective To investigate the clinical characteristics and related high risk factors of secondary pulmonary tuberculosis complicated with pulmonary fungal infection. Methods Data of patients with secondary tuberculosis admitted to Guangzhou Chest Hospital from July 2017 to October 2019 were collected. All patients with a course of disease longer than 3 months were divided into the fungal infection group (n =106) and the non-fungal infection group (n =100) for retrospective analysis. Results Univariate analysis results showed that there were statistical differences in combined other pulmonary diseases, non-initial treatment, hemoptysis, cavity, application of broad-spectrum antibiotic > for 1 week, and invasive operation (P<0.05). Logistic multivariate analysis showed that >1 week of broad-spectrum antibiotics and invasive procedures were independent risk factors for fungal infection (P<0.05). Conclusion Patients with tuberculosis who are treated with broad-spectrum antibiotics and invasive procedures should be alert to the risk of fungal infection, early prevention and treatment should be undertaken.

目的 对3例儿童Rotor综合征的临床特点及SLCO1B1和SLCO1B3基因突变分析,提高儿科医生对Rotor综合征的认识。方法 收集广州市妇女儿童医疗中心2018年—2019年确诊的3例Rotor综合征患儿的临床资料,对患儿及其家系成员肝脏常见遗传代谢性疾病二代测序筛查并家系验证结果进行分析。结果 患儿主要临床表现为反复或持续巩膜和(或)皮肤轻度黄染,实验室检查提示高直接胆红素血症。二代测序发现3例患儿均为SLCO1B1基因c.1738C＞T纯合突变和SLCO1B3基因5号内含子区域大片段插入纯合突变。SLCO1B1基因和SLCO1B3基因2处纯合突变均进行了家系验证。文献报道的SLCO1B1基因c.1738C＞T突变是无义突变,可以造成蛋白功能缺失;SLCO1B3基因的大片段插入突变虽暂未有文献收录或报道,但大片段的插入突变可引起移码突变而造成编码蛋白功能丧失。结论 由于基因检测技术的不断进步,Rotor综合征不断被儿科医生所认识。SLCO1B1和SLCO1B3双基因纯合或复合杂合突变是3例Rotor综合征患儿的分子遗传基础。

Objective To better understand Rotor syndrome(RS)in children,the clinical features and SLCO1B1 and SLC01B3 gene mutations were analyzed. Methods The clinical data of the 3 pediatric cases diagnosed in Guangzhou Women and Children's Medical Center between 2018 and 2019 was collected. Genomic DNA was extracted from the children and their family members, and subjected for second-generation sequencing to screen the known genes for liver genetic metabolic diseases. Then the detected mutations were confirmed by Sanger sequencing analysis. Results The main clinical manifestations were recurrent or persistent mild yellowish sclera and/or skin. Laboratory examinations showed hyperbilirubinemia with direct bilirubin elevating. Second generation sequencing showed that all 3 children were c.1738c＞Thomozygous mutations of SLCO1B1 gene and homozygous mutations of large fragment insertion in SLCO1B3 gene intron 5. Two homozygous mutations in SLCO1B1 gene and SLCO1B3 gene were verified in families.SLCO1B1 gene c.1738C＞T mutation,a nonsense mutation reported in references,could lead to protein function loss.A large insertion mutation of SLCO1B3 gene could cause frame-shift mutation which might lead to protein function loss even though it was neither reported in the references nor recorded in SNP database. Conclusion Due to the progress in the clinical application of gene detection technology, RS has been recognized gradually by pediatricians. Homozygous mutations or compound heterozygous mutations simultaneously occurred in SLCO1B1 and SLCO1B3 gene were the molecular genetics base in these cases of RS.