Hair thread tourniquet syndrome in a toe of an 18 mo old girl

Hair thread tourniquet syndrome is rare and usually affects little children. If the tourniquet is not incised, the affected body part becomes ischemic or even necrotic. An 18 mo old girl was seen in the emergency ward with a painful, red and swollen third toe of the left foot. The toe appeared to be strangulated with a hair, and the diagnosis hair thread tourniquet syndrome was made. After incision of the hair tourniquet the symptoms soon subsided. The diagnosis is easily made if the clinical features are recognized. However, if thetourniquet is not cut through, the affected body part may become ischemic and even necrotic.

Sensory changes, C-and A-fiber function, and shoulder-hand syndrome in hemiplegic patients after stroke

BACKGROUND： Clinical diagnosis of various neurological disorders involving the sensory nerves depends primarily on subjective description, which cannot be quantitatively evaluated, and is also less reproducible and specific. Quantitative sensory testing methods can overcome these shortcomings and is currently used to identify the function of the C- and A-fibers. OBJECTIVE： To apply the quantitative sensory testing method for analyzing changes in temperature sensation, cryalgesia, thermalgesia, and vibration sense on the skin surface of hemiplegic patients with post-stroke shoulder-hand syndrome, and to analyze the relationship between these changes and shoulder-hand syndrome. DESIGN, TIME AND SETTING： A non-randomized, concurrent, control study was performed at the Clinic and Inpatient Department of the Third Xiangya Hospital, Central South University, between June 2000 and April 2001. PARTICIPANTS： Thirty post-stroke, hemiplegic patients were divided into shoulder-hand syndrome and control groups, according to whether patients exhibited shoulder-hand syndrome, with 15 patients in each group. METHODS： A TSA2001 quantitative sensory testing device （Medoc, Israel） was used for quantitative sensory testing. All sensory testing employed limits, testing temperature sense on the palm thenar eminence and vibration sense on the thumb metacarpal. Cold threshold was ≤ 28 ℃, warmth threshold was ≥ 36 ℃, cold-evoked pain threshold was ≤ 5 ℃, heat-evoked pain threshold was ≥ 51 ℃, vibration threshold was ≥ 5 μm/s; if a patient met one of these items, he/she was considered to be hypoanesthesia. MAIN OUTCOME MEASURES： Cold, warm, cold-evoked pain, heat-evoked pain and vibration threshold changes on skin from the paralyzed upper extremity was measured in the shoulder-hand syndrome and control groups. RESULTS： Incidence of sensory disability in the shoulder-hand syndrome group increased more significantly than in the control group （P 〈 0.05）, with the primary manifestations being decreased cold threshold （P 〈 0.05） and increased warmth threshold （P 〈 0.05）. The value differences between cold and cold-evoked pain thresholds, as well as between warmth and heat-evoked pain thresholds, decreased significantly in the shoulder-hand syndrome group （P 〈 0.05）. There were no significant differences between the two groups in cold-evoked pain, heat-evoked pain, or vibration thresholds. CONCLUSION： The primary manifestations of sensory impairment in hemiplegic patients with post-stroke shoulder-hand syndrome were displayed as thermohypesthesia and hyperalgesia. Functional impairments of nerve fibers that control pain and temperature sense may play an important role in the pathogenesis of post-stroke shoulder-hand syndrome.

Research progress on the effect of the combination of Jing acupoints bloodletting therapy and Sangzhi (Mori Ramulus) on shoulder-hand syndrome after stroke

Shoulder-hand syndrome(SHS)is one of the common complications of ischemic stroke.The pathogenesis is not completely clear and the therapeutic effects are not very satisfactory.As one of the Five-Shu acupoints(the general terms of acupoints that the twelve meridians are located below the elbow and knee of the body),Jing acupoints is distributed at the end of fingers and toes where the twelve meridians of the human body pass by,and has the functions of stimulating the meridians and dredging the channels and collaterals.For the effects of discharging neurons,promoting cerebral blood flow and improving the brain micro-circulation,Jing acupoints bloodletting therapy can effectively relieve the clinical symptoms of the patients with SHS after stroke.Sangzhi(Mori Ramulus),with the ability of dredging the meridian and relieving the pain,is also has certain treatment functions to the SHS.In clinical practice,the combination of Jing acupoints bloodletting and Sangzhi(Mori Ramulus)have been widely used in the treatment of various diseases,and in terms of their mechanism of action,the combined treatment has a positive effect on post-stroke SHS,but there are few reports on this.Therefore,it is worth affirming the efficacy of combined treatment of SHS after stroke.This article elaborates the theoretical basis of Jing acupoints bloodletting on SHS after stroke,and the research progress of Sangzhi(Mori Ramulus)in treating SHS after stroke,which provide the theoretical guidance for the combination.

Delphi and Analytic hierarchy process for the construction of a risk assessment index system for post-stroke shoulder-hand syndrome

Background:Shoulder-hand syndrome(SHS)is one of the common complications after stroke,which is difficult to cure once it occurs.Early risk identification is an effective measure to prevent and treat SHS,but there is no effective tool to assess the risk assessment of SHS.Objective:To develop a validated tool to assess the risk of SHS occurrence after stroke.Methods:This was an observational study with a 3-step process:(1)Literature review to establish initial indicators;(2)Application of a modified Delphi method for two rounds of correspondence,with final indicators obtained by modifying each round based on expert opinion;(3)Application of hierarchical analysis to determine the weights of each indicator.Results:The initial literature review constructed4 primary indicators and 24 secondary indicators;after the first round of Delphi,a total of 10 secondary indicators were deleted and 6 secondary indicators were added,and the final indicators included 3 primary indicators and 15 secondary indicators,and in the second round,consensus was reached;by AHP analysis,the highest weight was given to existing risk factors(0.5584),followed by relevant medical history(0.3196);lastly,demographic factors(0.1220),and the scores of other secondary indicators met the requirements.Conclusion:This study establishes and constructs a post-stroke SHS risk assessment tool,which provides a basis for early identification of SHS and early intervention.Meanwhile,this study provides a methodological reference for the development of other indicatorssets.

Clinical Research of Traditional Chinese Medicine Fumigation and Washing Combined with Rehabilitation Training in the Treatment of Post-Apoplexy Shoulder-Hand Syndrome

Objective:To observe the clinical effect of traditional Chinese medicine fumigation and washing combined with routine rehabilitation training on post-stroke shoulder and hand syndrome(SHS).Comparing and analysing the effects of this treatment on the living ability of patients with post-stroke shoulder and hand syndrome.Methods:Fifty patients with post-stroke SHS who met the inclusion criteria were divided into observation group and control group by random number table method with 25 cases in each group.Both groups were given post-stroke secondary prophylactic drugs,while the control group was given routine rehabilitation training,20-30 minutes at a time,once a day,5 days a week,4 weeks as a course of treatment.On the basis of treatment in the control group,the observation group was combined with traditional Chinese medicine fumigation and washing,decocted with water to extract 3,000-4,000 ml juice,and added into the medicine bath bucket to soak the affected limb for 30-40 minutes,once a day,5 days a week,4 weeks as a course of treatment.The changes of upper limb edema degree,Numeric Rating Scale(NRS)score,Barthel index(MBI)and Fugl-Meyer Rating(FMA)scores before and after treatment were observed between the two groups,and the differences of clinical efficacy between the two groups were compared.Results:After treatment,the total effective rate in observation group was significantly better than that in control group(P<0.05).After treatment,the degree in upper limb edema in the two groups was significantly reduced(P<0.05),NRS score was decreased(P<0.05).Barthel index and FMA score were significantly increased(P<0.05),and the degree of upper limb edema and NRS score in the observation group were significantly lower than those in the control group(P<0.05).Barthel index and FMA score were significantly higher than those in the control group(P<0.05).Conclusion:The combination of traditional Chinese medicine fuming and washing with rehabilitation training has a better therapeutic effect on SHS,and the clinical efficacy of the former is more significant than that of single rehabilitation training.In clinical application,the former shows low cost,simple and easy operation,high acceptance by patients,and is conducive to promotion and use.

Mechanical upper bowel obstruction caused by a large trichobezoar in a young woman: A very unusual case report

BACKGROUND Bezoars usually compile human fibers and debris.A special form of bezoar in case of psychologically altered individuals is the trichobezoar.It consists of voluntarily swallowed hair bulks and is normally removed via gastroscopy.Trichobezoars leading to ileus have rarely been reported.CASE SUMMARY A 24-year-old female patient presented to the emergency room with abdominal pain,nausea,and vomiting for 3 d.Her previous medical and psychiatric history was unremarkable.Laboratory analysis showed iron deficiency anemia,leukocytosis,and elevated liver enzymes.An abdominal CT scan revealed a dense structure in the patients’stomach which turned out to be a huge trichobezoar completely obstructing the pylorus.The trichobezoar had to be removed surgi-cally.During her postoperative course,a subcutaneous seroma formed.After a single puncture,the rest of the recovery process was unremarkable,and the patient recovered fully.CONCLUSION A mechanical bowel obstruction is a potentially life-threatening event for every patient.In our case a young female was suffering from severe symptoms of an obstruction which might have resulted in serious harm without successful surgical management.

度普利尤单抗治疗Netherton综合征一例并文献复习

患者,男,5岁。全身皮肤干燥、脱屑,痒4年。患者出生20天后自前额、手、小腿开始出现干燥、脱屑,逐渐蔓延至股部、腹部。2岁后全身皮肤开始弥漫潮红、脱屑加重并伴剧烈瘙痒。躯干、四肢覆大量鳞屑,局部浸润、肥厚,关节伸侧皮肤显著苔藓化。皮肤镜下眉毛呈竹节状改变。血常规示嗜酸性粒细胞1.05×109/L。免疫球蛋白E>1130.00 IU/mL。诊断:Netherton综合征。目前有15篇文献报道应用度普利尤单抗治疗NS的临床效果,本例患者应用度普利尤单抗治疗4个月,患者瘙痒情况明显改善,全身脱屑短暂缓解,本文对既往文献及本例患者治疗进行了回顾性分析。

HAIR-AN综合征、白癜风、甲状腺功能减退并发1例

患者女，18岁。颈部、腋窝、腹股沟皮肤肥厚、色素沉着8年，颈部皮肤色素沉着表面白色斑片2年。皮肤科情况：颈部、腋窝、腹股沟皮肤肥厚、色素沉着，呈绒毛样增生。颈部皮肤色素沉着表面见约4．5em×3．0cm大小的色素脱失斑，周边见色素沉着晕。实验室检查：空腹和餐后2h血胰岛素水平分别为38．59μIU／mL（正常值2．0—30．5iμIU／mL）和1361μIU／mL（正常值11．5—99．65μIU／mL）。血睾酮水平113．5ng/dL（正常值10．0～75．0ng／dL）。3T功能：血清促甲状腺激素（TSH）〉100μIU／mL（正常值0．34～5．60DxlU／mL），FT32．9pmolZL（正常值3．8～6．0pmol／L），FT42．8pmol／L（正常值7．9～14．4pmol／L）。诊断：HAIR—AN综合征、白癜风、甲状腺功能减退并发。

女性型脱发不同中医证型的临床检验指标相关性分析

目的分析女性型脱发(FPHL)临床检验指标与中医证型的相关性。方法选取64例FPHL患者为研究对象,根据中医证型分为湿热熏蒸组(33例)、肝肾不足组(31例)。检验两组患者的甲状腺激素与性激素水平。比较两组患者甲状腺激素[三碘甲状腺原氨酸(T_(3))、四碘甲状腺原氨酸(T_(4))、促甲状腺激素(TSH)]、性激素[促卵泡生成素(FSH)、黄体生成激素(LH)、雌二醇(E_(2))、睾酮(T)、催乳素(PRL)]异常情况及E_(2)、T、E_(2)/T水平;分析FPHL患者甲状腺激素与性激素的相关性。结果湿热熏蒸组甲状腺激素检验值总异常占比为9.09%(3/33),肝肾不足组为3.23%(1/31);两组T_(3)、T_(4)、TSH检验值异常占比比较,差异无统计学意义(P>0.05)。湿热熏蒸组性激素检验值总异常占比为27.27%(9/33),肝肾不足组为32.26%(10/31);两组FSH、LH、PRL、T、E_(2)检验值异常占比比较,差异无统计学意义(P>0.05)。此外,LH/FSH≥2者占1.6%(1/64),多囊卵巢患者占1.6%(1/64,此患者LH/FSH<1)。两组E_(2)、T、E_(2)/T水平比较,差异无统计学意义(P>0.05)。Pearson相关性分析显示,T_(3)、T_(4)、TSH与FSH、LH、E_(2)、PRL、T无相关性(P>0.05)。结论FPHL患者外周血甲状腺激素及性激素检验值基本在正常范围内,未发现甲状腺激素及性激素指标与中医证型有关联,FPHL患者甲状腺激素T_(3)、T_(4)、TSH与性激素FSH、LH、E_(2)、PRL、T无相关性。

Timeliness of the analgesic effect of superficial needling on shoulder-hand syndrome after stroke

Objective To observe the correlation between analgesic effect and duration of analgesic effect of superficial needling for shoulder pain of shoulderhand syndrome（SHS） after stroke, so as to screen the best time period of analgesia. Methods A total of 120 patients with SHS after stroke（stage I） were recruited and superficial needling therapy was applied. Two obvious tenderness points on the affected shoulder of patients were found out. The site 80–100 mm down each tenderness point was selected for superficial needling. Bimanual needling technique was applied after inserting needles. The surrounding of tenderness points was pinched and grasped by left hand above the needling, and the technique of green dragon swaying tail was applied by right hand. The needles at each acupoint were manipulated for3 min and retained for 30 min. The analgesic effect was evaluated dynamically by visual analogue scale（VAS） in 120 patients before treatment, immediately after treatment, 30 min after treatment, 1 h after treatment and 24 h after treatment. The analgesic effects at different time were statistically analyzed by generalized estimating equation. Results The mean values of VAS were 7.483, 3.950, 4.767, 5.917 and 7.217, respectively, before treatment, immediately after treatment, 30 min after treatment, 1 h after treatment and 24 h after treatment. The difference of analgesic effect at different time was statistically significant（P〈0.01）; the difference of analgesic effect of superficial needling in treatment of SHS after stroke was significant between immediately after treatment and 30 min after treatment（both P〈0.05）, while there was no significant difference between 1 h after treatment and 24 h after treatment（both P〈0.05）. Conclusion Analgesic effect of superficial needling for shoulder pain of SHS after stroke was different at different time points and decreased over time; analgesic effect was the most significant immediately after treatment and the optimal duration of analgesic effect was from immediately to 30 min after superficial needling therapy.

Effect of kinetic needling combined with blood-letting puncturing and cupping on functions of upper limbs of patients with shoulder-hand syndrome after apoplexy

Objective To observe influence of kinetic needling on functional restoration of upper limbs of patients with apoplexy-induced shoulder-hand syndrome. Methods Ninety patients were randomly divided into an observation group （45 cases） and a control group （45 cases）. Basic treatments selected according to corresponding stroke units were applied to both groups. Besides, scalp acupuncture at Dingnie Qianxiexian （MS 6, 顶颞前斜线）, Dingnie Houxiexian （MS 6, 顶颞前斜线） and Dingzhongxian （NS 5, 顶中线）, was applied in the treatment group. In the observation group, active and passive movement was carried out during the process of scalp acupuncture, and then needling plus bloodletting puncturing and cupping was applied. In the control group, only needling plus blood-letting puncturing and cupping was given. Therapeutic effects, pain scoring obtained by visual analogue scales （VAS）, FugI-Meyer and FugI-Meyer＇s scoring reflecting moving functions of upper limbs were made after 4 courses of treatments in both groups. Results The total effective rate was 95.5% and 91.1% in the observation group and control group, respectively, showing superiority of the former to the latter （P〈0.05）. After treatment, VAS scores were all obviously reduced in both groups （P〈0.01）, and the reduction in the former was significantly more than that in the latter （P〈0.01）. Moving functions of upper limbs shown by Fugl-Meyer＇s scoring were improved after 2 courses of treatment in both groups （P〈0.01）. The improvement was more obvious after 4 courses of treatment than that after 2 courses of treatment in both groups （P〈0.05）. After 4 courses of treatment, moving functions shown by FugI-Meyer＇s scoring were more remarkably improved in the observation group than those in the control group（t=3.9, P〈0.01）. Conclusion Both kinetic needling combined with needling plus blood-letting puncturing and cupping and simple needling plus blood-letting puncturing and cupping are effective in treating shoulder-hand syndrome after apoplexy, and the former is better than the latter.

生长激素治疗毛发-鼻-指(趾)综合征Ⅰ型一例报告

随访深圳市儿童医院内分泌科经治的1例毛发-鼻-指(趾)综合征(trichorhinophalangeal syndrome, TRPS)Ⅰ型患儿应用生长激素治疗的效果,并进行文献复习。本文报道并总结生长激素治疗TRPSⅠ型患儿的疗效,除改善矮身材外,首次报道其促进毛发生长。通过总结分析生长激素治疗TRPSⅠ型患儿的效果,以提高临床医生对TRPS的认识。

多囊卵巢综合征患者各亚型特征分析

目的 分析多囊卵巢综合征(PCOS)各亚型与对照组之间的临床、生化和代谢参数的异同,进而为PCOS个体化治疗提供一些新思路。方法 筛选2018年1月至2020年12月就诊于巴彦淖尔市医院的PCOS患者共211例,将其作为试验组,并根据2003鹿特丹PCOS诊断标准及美国国立卫生院(NIH)指南推荐将试验组分为A、B、C、D四种亚型,另招募与试验组年龄、性别相匹配的健康受试者57名作为对照组。分别对各组人群进行性激素、糖、脂等代谢性指标检测、计算及统计分析。结果 PCOS各亚型中D型(O+P)占比最多(34.6%),典型临床体征发生率中肥胖占比较高(52.13%),典型临床指标中卵巢多囊样改变占比较高(85.31%)。所有试验组体重指数(BMI)、生物电阻抗法测量内脏脂肪(VFA)、睾酮(TE)、黄体生成素/卵泡刺激素(LH/FSH)、黄体生成素(LH)均高于对照组,差异有统计学意义(P <0.05);PCOS各亚组中A组代谢紊乱较B、C、D组严重,A组VFA、低密度脂蛋白(LDL-C)、胰岛素抵抗指数(HOMA-IR)、LH、TE均高于B、C、D组,差异有统计学意义(P <0.05);高雄组(A、B、C组)与对照组比较,C组各代谢指标水平介于A组与对照组之间,差异有统计学意义(P <0.05)。结论 PCOS各个亚组均存在不同程度糖脂及性激素代谢异常,与其他亚组相比,A组的PCOS女性代谢风险增加。

Therapeutic effect of acupuncture and massage for shoulder-hand syndrome in hemiplegia patients:a clinical two-center randomized controlled trial

OBJECTIVE:To evaluate the therapeutic effects of acupuncture and massage for shoulder-hand syndrome in hemiplegia patients.METHODS:One hundred and twenty hemiplegia patients with stage I shoulder-hand syndrome were randomly divided into a group treated with standardized electric acupuncture and massage,and a group treated with rehabilitation therapy for 6 weeks.The primary indices evaluated were pain on passive movement of the shoulder using the numeric pain rating scale(NPRS),and the number of patients with shoulder-hand syndrome at Steinbrocker stage II or III after treatment.The secondary indices were Fugl-Meyer evaluation of functional movement of the upper limb and hand using the modified rankin scale(MRS).RESULTS:At post-treatment evaluation and a 12-week follow-up visit,NPRS score,number of patients with stage II or III shoulder-hand syndrome,and MRS score were all improved in the acupuncture-massage group compared with the rehabilitation group(P<0.05).On Fugl-Meyer evaluation,functional movement of the upper limb was also improved in the acupuncture-massage group compared with the rehabilitation group(P<0.05).CONCLUSION:Standardized acupuncture-massage therapy may have curative effects on shoulder-hand syndrome in hemiplegia patients.

Clinical Observation on Electroacupuncture Treatment of Shoulder-Hand Syndrome in Apoplectic Hemiplegia

Objective： To investigate the therapeutic effect of electroacupuncture on shoulder-hand syndrome in apoplectic hemiplegia. Methods： One hundred and sixty patients were randomly divided into two groups. 80 cases in the control group was treated by conventional acupuncture by filiform needles and 80 cases in the treatment group were treated by electroacupuncture. The therapeutic effects were evaluated after two courses of treatment. Results： After two courses of treatment, the therapeutic effect for edema on back of the hand and hand pain in digital flexion and the total effective rate were better in the treatment group than in the control group （P〈0.05）. Conclusion： Electroacupuncture is of significant importance for relieving pain on back of hand, preventing the muscular atrophy of hand and promoting recovery from apoplexy.

Treatment of 40 Cases of Poststroke Shoulder-Hand Syndrome by Acupuncture

Acupuncture and rehabilitation therapies were used to treat 40 cases of shoulder-hand syndrome, the results show that integration of acupuncture and rehabilitation can increase therapeutic effects and shorten treatment courses to accelerate recovery.

Muscle regions of meridians warm needling method plus pricking Jing-Well points for blood-letting in the treatment of shoulder-hand syndrome after stroke

Objective To observe the effect of muscle regions of meridians warm needling method plus pricking Jing-Well points for blood-letting in improving nail fold microcirculation in the patients with shoulder-hand syndrome(SHS)after stroke,and the effects on hemorrheology,calcitonin gene-related peptide(CGRP)and serum substance P(SP).Methods A total of 72 patients were randomized into an observation group and a control group by the random number table method,with 36 cases in each group.The control group was treated with physical rehabilitation training,and the observation group was treated with additional muscle regions of meridians warm needling method plus pricking Jing-Well points for blood-letting treatment.The treatment course lasted for 4 weeks.After treatment,the clinical efficacy of the two groups was compared.The changes in shoulder-hand syndrome scale(SHSS),simplified Fugl-Meyer assessment-upper extremity(FMA-UE),visual analog scale(VAS),activities of daily living(ADL),traditional Chinese medicine(TCM)syndrome score,nail fold microcirculation hemorheology indictors[whole blood viscosity(high-shear,low-shear),hematocrit,erythrocyte sedimentation rate(ESR)],CGRP and SP levels were observed.Results The total effective rate in the observation group was 86.1%,higher than 63.9%in the control group(P<0.05).The overall curative effect in the observation group was better than that in the control group(P<0.05).After treatment,the scores of pain sensation,edema,external turn and rotation of the arm in SHSS,and the total score were significantly decreased in both groups(all P<0.05),and each score in the observation group was lower than that in the control group(all P<0.05).After treatment,the scores of VAS and TCM syndrome in both groups decreased significantly(all P<0.05),and the scores of FMA-UE and ADL increased significantly(all P<0.05).The scores of VAS and TCM syndrome in the observation group were lower than those in the control group(both P<0.05),and the scores of FMA-UE and ADL were higher than those in the control group(both P<0.05).After treatment,the whole blood viscosity(high-shear and low-shear)and hematocrit in both groups decreased obviously(all P<0.05),and ESR increased obviously(both P<0.05),and the whole blood viscosity(high-shear and low-shear)and hematocrit in the observation group were lower than those in the control group(all P<0.05),and ESR was higher than that in the control group(P<0.05).After treatment,the peritubular state,loop shape,blood flow and total score of nail fold microcirculation in both groups decreased significantly(all P<0.05),and each score in the observation group was lower than that in the control group(all P<0.05).After treatment,SP in both groups decreased obviously(both P<0.05),CGRP increased obviously(both P<0.05),and SP in the observation group was lower than that in the control group(P<0.05),CGRP was higher than that in the control group(P<0.05).Conclusion Compared with conventional physical rehabilitation training,muscle regions of meridians warm needling method plus pricking Jing-Well points for blood-letting treatment can significantly reduce the clinical symptoms of SHS,promote the recovery of physical functions,improve the nail fold microcirculation and hemorrheology indictors,and regulate the serum cytokine levels such as CGRP and SP.

清热祛湿法联合5%米诺地尔酊治疗湿热型女性型脱发患者中医证候及疗效观察

目的:探讨清热祛湿法联合5%米诺地尔酊治疗湿热型女性型脱发的临床效果。方法:选取2021年1月—2022年3月我院收治的60例湿热型女性型脱发患者,按随机数字表法分为两组,各30例。对照组予以5%米诺地尔酊治疗,观察组加用清热祛湿法治疗,连用4个月。比较两组临床疗效、皮肤镜指标、中医证候积分、临床症状积分及不良反应。结果:观察组总有效率较对照组高,治疗后白点征、毛发直径差异大占比低于对照组,有统计学差异(P<0.05);观察组治疗后中医证候积分、头屑、头油、头痒、脱发积分均低于对照组,有统计学差异(P<0.05);两组不良反应相比(P>0.05)。结论:清热祛湿法联合5%米诺地尔酊可增强湿热型女性型脱发患者疗效,改善皮肤镜指标,降低中医证候积分,加快临床症状消失,安全可靠。

Menkes病的临床及病理

目的对1例Menkes病患者的诊断与治疗过程进行回顾分析,以识别遗传性铜代谢异常引起的神经系统变性病Wilson病与Menkes病患者的临床及病理特点。方法与结果患者女性,8岁发病,逐渐出现下肢无力、关节变形、双手呈爪样偏向尺侧、骨质疏松、四肢肌张力铅管样增高、震颤、言语不利、精神障碍,以及牙龈出血、鼻出血及尿潴留等临床症状。体格检查呈高腭弓,双手轮替动作试验、跟-膝-胫试验和指鼻试验均不能完成,并有锥体束征;血清铜氧化酶0.02μmol/L。临床诊断为肝豆状核变性(亦称Wilson病)并骨质病。给予青霉胺0.25g口服,3次/d,治疗4年无效,改为0.25g口服,4次/d。治疗1年余,症状及体征渐进性加重,16岁死亡。尸检结果显示,脑实质呈广泛性萎缩,双侧额顶叶皮质下白质严重萎缩、变性形成空腔。光学显微镜下基底节组织结构无明显改变,血管管腔偶有不规则,内膜皱缩;皮质内颗粒细胞层神经元脱失明显,白质广泛脱髓鞘变性并有囊腔形成,可见大量增生的星形细胞、吞噬细胞、异位神经元及卫星细胞,血管周围无炎症细胞浸润;基底节区尾状核头、壳核、苍白球、丘脑均未见明显的神经元脱失和坏死,但是神经元中卫星细胞明显增多,有大量激活的小胶质细胞,尾状核尾的神经元内有沉积物;未见AlzheimerⅡ型星形细胞和Opaski细胞;小脑的特征性变化为颗粒细胞层变薄,细胞减少,残留的Purkinje细胞有明显的树枝状突起(垂柳影样)及突起局限性肥大处树突增多,局灶性轴突肿胀(鱼雷样变);并可见Purkinje细胞沉入颗粒细胞层内。结论(1)Menkes病亦可发生于女性,可于儿童晚期或成年早期发病。(2)特征性表现为皮质下白质大片变性、坏死形成空腔,以及与临床症状、体征不平行的基底节结构保留完好,皮质内颗粒细胞层神经元脱失和小脑Purkinje细胞异常突起等。

毛发-鼻-指(趾)综合征及扫描电镜观察

报告1例毛发-鼻-指(趾)综合征(Langer-Giedion综合征)及扫描电镜观察。患者女,16岁。主要临床表现为毛发稀疏、生长缓慢,梨形鼻,指、趾异常,点状白甲,面部雀斑及智力发育异常。扫描电镜显示毛发病变严重,毛小皮细胞折叠、剥蚀和发干断裂等表现。