Plummer Vinson syndrome

BACKGROUND: Plummer Vinson syndrome is a rare affection which affects mainly white women. It is characterized by dysphagia, iron deficiency and the presence of superior esophageal web. AIM: The purpose of this study is to precise the epidemiological, clinical, paraclinical and therapeutical features of the affection. METHODS: We report 19 cases of Plummer Vinson syndrome collected over 15 years (1990- 2004). RESULTS: Dysphagia is the main symptom observed in 100% of the cases. 89.4% of the patients had anemia and 15 hyposideremy. All the patients were treated with iron supplementation and endoscopic treatment (dilatation and rupture of esophageal webs). Three patients necessitate multiple sessions of endoscopic dilatation and 15 had favourable evolution. The malignancy was observed in one case.     

Rheumatologic manifestations of sarcoidosis

Sarcoidosis is a systemic granulomatous disease of unknown etiology. It has various clinical features. The most commonly affected organs are the lung, the lymph nodes, the eyes and the skin. Involvement of the musculoskeletal system is far less common and may be inaugural. Articular involvement is dominated by Lofgren syndrome and acute polyarthritis. Abarticular manifestations are often confounded with arthritis. Bone locations are dominated by sarcoidosis dactylitis and osteolysis. Muscular involvement is often unknown and can appear as 3 clinical features: spread form, myositique form or pseudotumoral form. Calcium balance disturbances are dominated by hypercalcemia which is often asymptomatique, but sometimes it reveal the sarcoidosis. Treatment of rheumatologic disorders often involves non steroidal antiinflammatory drugs, corticosteroids and methotrexate. Biological therapies such as the anti-TNFa and the anti-CD20 were showed to be effective in some case reports of severe and refractory disease.     

Peutz-Jeghers syndrome. Two case reports

The Peutz jeghers syndrome is a familial affection with dominant autosomic transmission characterized by a hamartoma digestive polyposis and a cutaneous mucous lentiginosis with periorifice predominance. This affection represented 3 into 10% for the familial polyps. The digestive polyps constitute the must important part of the pentz jeghers syndrome because they determined to only the clinic manifestation and the disease prognostic with there complications: intestinal invaginations, haemorrhage. In this work, we report two observations of patients presented a Peurtz Jeghers syndrome, and we determine, after literature review the epidemiologic, pathogenic, clinic, anatomy pathologic, prognosis and therapeutics of this effection.     

Wolfram syndrome. A new case report

The WOLFRAM syndrome (SW) is a rare hereditary disorder described for the first time in 1938 as the coexistence of a diabetes mellitus and an optic atrophy to which join frequently a diabetes insipidus and a bilateral deafness. Several genetic studies are current to determine transmission mechanisms, physiopathology of the disorder to update a curative therapy. On the occasion of a new case report we remind the main characteristics of this syndrome. The SW is a rare neurodegenerative disorder characterized by the coexistence of diabetes mellitus, diabetes insipidus, optic atrophy and deafness. Several other manifestations are frequently associated: neurological, urologic and endocrinous abnormalities as well as growth troubles. Only diabetes mellitus and optic atrophy are compulsory for the diagnosis. This Syndrome is transmitted to the autosomic recessive mode. Mitochondrial heredity is in the course of study. The systematic practice of a cerebral IRM during a SW allows finding several malformative abnormalities of which the most typical is the agenesis of the post-pituitary gland. The prognosis of the affection is essentially conditioned by the evoluting complications of the uropathy and the diabetes mellitus. The treatment is symptomatic. Genetic therapy is in.     

Treacher-Collins syndrome: clinical and genetic aspects apropos of 4 cases of which 1 is familial

Treacher Collins syndrome was first mentioned by Thompson in 1847, and described by Treacher Collins in 1900, then it was called mandibulo-facial dysostosis and well defined by Franceschetti in 1949. It is a very rare affection occurring lin 50.000 live births, which includes facial and auricular anomalies leading to functional, morphological and psychological difficulties due to related handicaps. Treacher Collins syndrome is inherited as autosomal dominant pattern with a variable expressivity and incomplete penetrance of "TCOF1" gene localized at 5q31.3q32. Today the gene is well identified and several mutations have been reported. In this paper we report the case of 4 Tunisian unrelated girls with Treacher Collins syndrome. One of them was born from an affected father. Clinical diagnostic was performed between age 12 days and 2 years demonstrating the large dysmorphic expression. Main clinical features were present in all reported cases. Family at risk might have genetic counselling and probably prenatal diagnostic in some situations. Out of our observations, we gave genetic counselling and proposed ultrasound prenatal diagnosis for two families without molecular study.     

Alpha heavy chain disease. A Tunisian case

Alpha heavy chain disease is a rare affection in the West and reported mainly in developing countries with the improvement of hygienic conditions, the disease become rare in Tunisia, the last case was reported in 1991. The aim of the study is to report a new Tunisian case and to describe clinical, endoscopical and histological characteristics of the disease. The patient in a 37 years old male, presented with chronic diarrhoea associated with malabsorption syndrome. The diagnosis of alpha heavy chain disease was confirmed by histological examination of the resected intestine after surgery for intestinal obstruction. The patient received chemotherapy. The follow up is of two months.     

Impact of prenatal low-dose diazepam or chlorpromazine on reflex and motor development and inhibitory-learning.

Long-term behavioral effects of a low dose of diazepam (1 mg/kg body weight) or chlorpromazine (2.5 mg/kg) administered 2-3 times during the last week of pregnancy i.m. were studied in Wistar rats and compared with sequelae of analogously applied saline as well as with normal ontogeny in controls. Inhibitory learning-and-memory ontogeny was assessed by 3 types of passive avoidance (PA) at 3 different life periods: neonatal, 2 months, 4 months. Also were investigated: development of righting, air righting, hanging on a thin horizontal bar, eye-lid opening, somatic development and mortality. Prenatal application of diazepam had adverse effects in all parameters except of eye-lid opening. The reflex and motor development was retarded, and so was body weight. The high mortality in the diazepam treated progeny was due to increased death rate in males. In all PA paradigms investigated no memory was established in rats given diazepam prenatally. Chlorpromazine exhibited a lesser effect. I.m. saline had doubtless a character of prenatal-stress. The impact of diazepam was therefore the result of its proper action and only of a partial, if any, after-effect of prenatal stressful manipulation of the dam.     

T7-shRNAs对SKOV3卵巢癌细胞株中C-erbB2基因的RNAi作用

目的:探讨设计含有T7-启动子的Oligo-DNA,继而合成T7发夹RNA,并应用T7-shRNAs对卵巢癌SKOV3细胞株的卵巢癌C-erbB2基因进行RNAi。方法:自行设计并应用体外转录法合成、筛选出3条T7-shRNAs,脂质体转染卵巢癌SKOV3细胞株,分为非转染组、无关RNA组、shRNA(a、b、c)组,免疫细胞、RT-PCR及CCK-8观测干涉结果。结果:体外转录结果,合成后电泳检测shRNA(a、b、c)纯度较高,符合实验标准;转染后免疫细胞爬片结果,非转染组、无关RNA组和shRNAc链24、48、72h可见细胞生长正常,与时相无关,着色为深棕色,无抑制效果;shRNAa链24h可见有一定抑制效果,但48h即开始恢复生长,72h已恢复正常;shRNA b链24、48、72h可见有明显抑制效果,以24~48h最为明显,至72h仍维持相当抑制率;在核酸水平上半定量的RT-PCR结果与上述结果相符合;CCK-8动态观测,经shRNA干涉后不同时间内的抑制曲线显示,shRNAb链的抑制作用最明显,而shRNAa链和shRNAc链的抑制作用不明显(P<0.01),但shRNAa链抑制作用强于shRNAc链(P<0.01),从整个时间段来看,shRNAb在48h的抑制作用最强。结论:研究证实应用发夹RNA对肿瘤细胞可以取得明显干涉效果,发现shRNAb对C-erbB2基因干涉具有明显抑制作用,进一步完善RNA干涉实验来抑制肿瘤细胞生长是存在可能的。     

Costal hydatid cyst (report of 2 cases)

Hydatidosis is an endemic affection in our country. Hepatic and pulmonary localisation is the most frequent. The other localisation especially in the bone, are exceptional. We report 2 cases of costal hydatid diagnosed on 17 and 33 years old male patients admitted for parietal tumor respectively localized in cervix and thorax. The diagnosis, suspected on chest tomography is confirmed by histologic patterns of resected rib.     

Lyell's syndrome: a report of 16 cases

BACKGROUND: Lyell's syndrome (SL) or toxic epidermal necrolysis is a rare mucocutaneous eruption, which is characterised by an acute necrosis of the totality of the epidermis +/- the mucosal epithelium. This is a serious affection considering the severity of systemic manifestations, the unpredictable evolution, and the absence of specific therapy. AIM: To assess epidemiological and clinical features of this condition in our departments. METHODS: This was a retrospective study concerning the cases of Lyell's syndrome carried in the dermatology and the intensive care department of Farhat Hached hospital over a 26 year period. RESULTS: We listed 12 women and 4 with a mean age of 48.9 years. Epidermal detachment varied between 26 and 80% of the body surface and mucus were involved in 87.5% of cases. Systemic manifestations were noted in 11 patients. A drug etiology was found in 87,5% of cases, half of which was due to antibiotics. CONCLUSION: Our results are similar to those in the literature. Our study illustrates the severity of this toxiderma with a high mortality rate (43.75% of cases), conformable with what was predicted by the severity-of-illness score "SCORTEN". Infectious complications were the principal cause of death.     

产科并发重要脏器功能障碍的临床分析

目的:探讨并发重要脏器功能障碍的危重孕产妇临床特点、救治及护理。方法:对2003年8月~2007年6月期间该科收治的并发脏器功能障碍的63例危重孕产妇的临床资料进行回顾性分析。结果:①在导致脏器功能障碍的产科原发病中,产后出血和妊娠高血压综合征最为多见。②凝血功能障碍和肾功能障碍是常见的障碍器官。③产后出血容易并发凝血功能障碍和急性肾功能衰竭,妊娠高血压疾病易并发心功能损害。④并发障碍器官数量越多,孕产妇死亡率越高。结论:要积极治疗导致重要脏器功能障碍的原发病,积极预防产后出血和妊娠高血压疾病并发症的发生,同时密切监护重要脏器功能,并采取有效的救治和护理措施,以减少孕产妇死亡的发生。     

Measuring potentially avoidable hospital readmissions

The objectives of this study were to develop a computerized method to screen for potentially avoidable hospital readmissions using routinely collected data and a prediction model to adjust rates for case mix. We studied hospital information system data of a random sample of 3,474 inpatients discharged alive in 1997 from a university hospital and medical records of those (1,115) readmitted within 1 year. The gold standard was set on the basis of the hospital data and medical records: all readmissions were classified as foreseen readmissions, unforeseen readmissions for a new affection, or unforeseen readmissions for a previously known affection. The latter category was submitted to a systematic medical record review to identify the main cause of readmission. Potentially avoidable readmissions were defined as a subgroup of unforeseen readmissions for a previously known affection occurring within an appropriate interval, set to maximize the chance of detecting avoidable readmissions. The computerized screening algorithm was strictly based on routine statistics: diagnosis and procedures coding and admission mode. The prediction was based on a Poisson regression model. There were 454 (13.1%) unforeseen readmissions for a previously known affection within 1 year. Fifty-nine readmissions (1.7%) were judged avoidable, most of them occurring within 1 month, which was the interval used to define potentially avoidable readmissions (n = 174, 5.0%). The intra-sample sensitivity and specificity of the screening algorithm both reached approximately 96%. Higher risk for potentially avoidable readmission was associated with previous hospitalizations, high comorbidity index, and long length of stay; lower risk was associated with surgery and delivery. The model offers satisfactory predictive performance and a good medical plausibility. The proposed measure could be used as an indicator of inpatient care outcome. However, the instrument should be validated using other sets of data from various hospitals.     

The first molecular analysis of a Hungarian HNPCC family: a novel MSH2 germline mutation

BACKGROUND: Hereditary nonpolyposis colorectal cancer is an inherited disease characterized by onset at an early age, an excess of synchronous and metachronous large bowel tumors and a variety of extracolorectal malignancies. Basal and squamous cell carcinomas of the skin are not customarily included in the tumor spectrum of the syndrome. The disease is caused by a germline mutation in one of the DNA mismatch repair genes, most commonly MSH2 or MLH1, and typically presents with microsatellite instability and frequent loss of mismatch repair protein expression in the tumor tissue. PATIENT: The case of a 62-year old woman who had a history of colon cancer at the age of 46 years, endometrial cancer at the age of 56 years, baso-squamous, and squamous cell cancer of the face at the ages of 53, 54, 62 and 58 years, respectively, and rectal cancer at 60 is reported. Her family fulfills the Amsterdam criteria for the diagnosis of hereditary nonpolyposis colorectal cancer. The baso-squamous cell, the squamous cell, the endometrial and the rectal cancers were assessed for the microsatellite instability status and the expression of the MSH2 and MLH1 mismatch repair proteins, and the p53 tumor suppressor protein by immunohistochemistry. Mutational screening using an automated capillary DNA sequencer was performed by the direct genomic sequencing of 17 fragments of the MSH2 gene, which covers promoter, all exons and flanking intronic regions. RESULTS: All cancers displayed microsatellite instability and were positive for the p53 protein. The immunohistochemical staining in the baso-squamous cell, the squamous cell, the rectal and endometrial cancers were negative for MSH2 and positive for MLH1 proteins. DNA sequencing analysis revealed a mutation c.2292G > A in exon 14 of the MSH2 gene, which is altering the 764. amino acid, the tryptophan to STOP codon (p.W764X). Thus the MSH2 protein is presumably truncated by 171 aminoacids. CONCLUSION: To the best of authors' knowledge, this is the first molecular characterization of a Hungarian hereditary nonpolyposis colorectal cancer family. According to the Human Mutation Database and International Collaborative Group of HNPCC Database, this mutation is novel, has not been reported previously. Cutaneous baso-squamous and squamous cell cancers may present as part of the HNPCC phenotype. Detection of the loss of mismatch repair protein expression and mismatch repair gene mutation mapping, represents a significant improvement of the diagnosis of this syndrome in Hungary. These examinations identify the mutation carriers who are at an increased risk of developing cancers.     

原发性气管肿瘤的诊断与外科治疗

目的 :探讨原发性气管肿瘤的诊断与外科治疗问题。方法 :分析 11例气管肿瘤的临床资料 ,其中 9例为手术病例 ,行气管开窗取瘤术 2例 ,气管侧壁切除肌瓣填塞修补术 1例 ,气管环行切除对端吻合术 6例。结果 :本组病例早期全部误诊 ,误诊时间 3个月～ 2年 ,手术病人均术后恢复顺利 ,无手术死亡 ,无切口感染及呼吸、循环系统严重并发症 ,随访 1～ 5年 ,4例良性肿瘤病人均存活 ,5例恶性肿瘤病人手术切除者术后生存 5年以上 1例 ,1～ 3年 2例 ,死亡 2例。结论 :应提高临床医师对原发性气管肿瘤的认识 ,外科手术治疗是提高气管肿瘤病人生存率的有效方法     

Adult-onset Still disease. 11 cases

Still's Disease of the adult is a systemic disease that the cause is unknown. If the pediatric forms are frequent, the affection of the adult is rare and its diagnosis is difficult. The purpose of this study is to analyse the features of the clinical evolution of adult Still's disease and to compare our results with the literature. It is a retrospective study about 21 years that permitted to collect 11 cases according the criteria of Yamaguchi. It is a matter of 6 men and 5 women that the mean age is 31 years old (age range: 16 to 48 years old). The fever was constant, the skin rash was noticed in 8 patients (72.7%); a polyarthritis was noticed in all the patients, chronic in 10 cases (90.9%) which 2 erosive forms. Adenopathies were present in 5 patients, a splenomegaly and a hepatomegaly were noticed respectively in 4 and 2 cases. Inflammatory syndrome with hyperleukocytosis was constant, and a hepatic cytolysis was noticed in 80%. The total ferritinemia titrated in 8 patients was constantly high. The hemocultures realized in all the patients were sterile and the complete immunologic examination was negative. The strong dose of corticoid was prescribed with success in all the patients. The immediate evolution was favourable in 10 patients. We deplore one death after a state of deep denutrition. Still's disease of the adult is rare, its diagnosis is difficult, sensitive to corticotherapy and its clinical evolution in our country is comparable to the literature.     

Experience in diagnosis and treatment of ectopic ACTH syndrome

OBJECTIVES: To increase the diagnosis and treatment of ectopic ACTH syndrome. METHODS: The data of 12 ectopic ACTH syndrome patients treated from 1985 to 1999 were retrospectively analyzed. RESULTS: Twelve patients were diagnosed as having ACTH syndrome by endocrinary test and primary tumors were ascertained by imaging examination. Follow-up from 7 months to 8 years showed 3 out of 5 patients with radical resection of primary tumor died. One patient with bilateral adrenorectomy was still alive. All patients received only chemotherapy except one died. CONCLUSIONS: Patients with Cushing's syndrome should be evaluated by endocrine test and followed up by imaging screen examination. The key points to increase treatment effect include early detection, localization and resection of primary tumors.     

野战X线诊断车影像信息处理系统与屏-片摄影的对比分析

目的：研究抗震救灾野战医院X线诊断车影像信息处理系统与传统屏-片摄影模式的对比优缺点。方法：四肢病变465例，躯干部病变58例。所有患者均在透视下成像并经S2001-WZ6．0影像信息处理系统打印图文报告，并同时进行传统屏-片摄影模式摄片。结果：四肢病变，上述两种方法诊断符合率98％；躯干部病变，两者符合率73％。结论：野战X线诊断车影像信息处理系统因其快速方便、损耗小、对空间条件要求低、诊断率高等优点。在野战条件下具有广泛的应用前景。     

Epidemiologic,clinical and cytohematologic characteristics of adult acute lymphoblastic leukemia in Tunisia

Through a national retrospective study, the authors report the clinical and hematological characteristics of 124 acute lymphoblastic leukemia of the adult diagnosed during 5 years (1993-1997). The national prevalence is of 0.28/100.000 inhabitants/year. The sex-ratio is of 1.3. Sixty six per cent of patients were 16-35 years of age, and only 10% of them were more than 60 years of age. A tumoral syndrome was present at 71% of the cases with peripheral adenopathies in 55%, splenomegaly in 40%, hepatomegaly in 19% and a mediastinal tumor in 18% of the cases. The bone pain were rarely signaled (10%) and neuro-meningeal affection was found in only 3% of cases. There was no testicular lesions. The white blood cells count was less than 30.000/mm3 in 60% whereas an important hyperleucocytosis superior than 100.103/mm3 was observed in 20% of the cases. Anemia and thrombopenia were noted in 94% and 90% of the cases respectively. Acute lymphoblastic leukemia typing by cytological study of Bone marrow according to the Fransh-American-Britain criteria (FAB) had found 43%, 48% and 4% for type 1,2 and 3 respectively. In 5% of the cases the type of the acute lymphoblastic leukemia was not precised (diagnosis based on the Bone biopsy).     

老年人群慢性病现状及对日常生活功能的影响

目的：为老年人群慢性病防治和生活质量的改善提供科学依据。方法：采用多级抽样调查和logistic回归分析方法对1109名老年人慢性病状况及对日常生活功能的影响进行研究。结果：（1）慢性病患病率为67.2%，大多患2种以上，前五位依次为高血压，心脏病，白内障，骨质疏松和胃肠疾病；（2）日常生活功能ADL和IADL损害率分别为8.0%和43.6%;（3）对ADL损害有显著意义的因素有高血压，脑血管病，精神病，白内障，泌尿系疾病和肿瘤，对IADL损害有显著意义的因素有年龄，脑血管病和肿瘤，ADL和IADL的影响因素有较大差别，而且其与患病率高低，患多少种病并无一致的对应关系。结论；老年人慢性病患病率高，不少疾病对日常生活功能造成明显损害，而疾病的性质可能所起作用较大，应采取适宜的策略和和措施防治慢性病。