Phenotypic and cytogenetic spectrum of 9p trisomy

Trisomy 9p is one of the most frequent autosomal anomalies compatible with long survival rate. The spectrum of clinical severity in trisomy 9 roughly correlates with the extent of trisomic chromosome material. Trisomy 9p is a clinically well delineated syndrome and of all stigmata craniofacial dysmorphism is most specific. In this study we report five cases with de novo trisomy 9p. The study aimed at the identification of the genotype/phenotype correlations in patients with different breakpoints. GTG banding, DAPI stain, whole chromosome paint, centromere, telomere and 9p21 specific locus probes demonstrated that partial trisomy 9p in case 1 was due to isochromosome 9p with translocation of the long arm of re-arranged chromosome 9 onto the short arm of chromosome 13, cases 2 and 3 had intrachromosomal duplication of the short arm of chromosome 9 [dup(9)(p21p24)], case 4 had "classical" 9p trisomy and case 5 had duplication of whole short arm and part of the long arm of chromosome 9 (partial 9 trisomy). Although cases 1 to 4 had trisomy involving 9p, cases 1 and 2 exhibited the classical clinical manifestations of 9p trisomy, while cases 3 and 4 had additional features overlapping with Coffin-Siris syndrome. The present study strengthens the association of Coffin-Siris syndrome and 9p, the significance of such observations may point to possible gene location of Coffin-Siris syndrome on 9p. Case 5 had additional manifestations more than those typical of trisomy 9p which could be due to duplication of 9q21 region. Wide gap between 1st and 2nd toes, observed in the studied cases, can be added to the phenotype of this trisomy. Three of our cases had brain malformations, case 3 had dilated ventricles with hypogenesis of corpus callosum, case 4 had agenesis of corpus callosum, and case 5 had Dandy-Walker malformation. We also suggest that dosage effects of genes located in 9pter-q22 contribute to the etiology of Dandy-Walker syndrome. We recommend MRI studies as a routine in all cases with trisomy 9p.     

Localization of genes conferring resistance to selected groups of antibiotics in methicillin-resistant strains of Staphylococcus aureus

Localization of genes conferring resistance to MLS, tetracyclines, chloramphenicol, gentamycin and neomycin in 80 MRSA strains isolated from hospital specimens was determined. The obtained results were compared to DNA patterns of the examined strains after digestion with SmaI and separation in pulsed field electrophoresis (PFGE). It was shown that genes of resistance to MLS (ErmI+) in the case of 13 strains were located on chromosome and in the case of 37 strains on plasmids (16 strains had ErmI+ and 21 strains had ErmI-). Genes determining resistance to tetracyclines were localised on chromosome in the case of 39 (23 strains possessed TetK, 11 strains had TetM and 5 strains possessed both TetK and TetM determinants) and in the case of 32 strains on plasmids. Chloramphenicol resistance genes were localised on plasmids in all 30 resistant strains. Genes conferring resistance to gentamycin were present in 31 of the investigated strains on chromosome and in two strains on plasmids. Neomycin resistance genes were plasmid in 34 strains. It was shown that the localization of the resistance genes and the PFGE patterns of the investigated strains were highly correlated.     

131I]metaiodobenzylguanidine treatment of malignant pheochromocytoma: experience of the Rome group.

Five cases of malignant pheochromocytoma (3 men and 2 women, aged 26-43 years) were treated with [131I]metaiodobenzylguanidine (131I-MIBG). One patient had a voluminous adrenal tumor and multiple distant metastases; two patients had a recurrent tumor; two others a post-surgical residual tumor. The therapeutic procedure essentially consisted of single doses (2.6-7.4 GBq) of 131I-MIBG administered by slow i.v. infusion, given in several therapeutic courses at 1-5 month intervals. The treatment resulted in a complete response in one case with residual tumor and in a partial response in the case with disseminated disease. Two cases showed stabilization of the disease, whereas therapy was ineffective in the fifth case. Nevertheless, pain relief was observed in this patient. The treatment had a very low toxicity and was well tolerated by all patients.     

Superiority of magnetic resonance imaging (MRI) over computerized tomography (CT) in diagnosis of hypopituitarism]

Hypopituitarism can be a result of various lesions of hypothalamus, pituitary stalk, or of the pituitary gland itself. The aim of the study was to assess the value of CT and MRI examinations in determination of the cause of hypopituitarism. Seventeen patients with hypopituitarism (9 women and 8 men) aged 22 to 61 years have been examined. In three cases growth deficiency was observed, 4 women had galactorrhoea, 4 patients had diabetes insipidus, 16 patients had supra-adrenal insufficiency, 14 had signs of hypogonadism and 10 hypothyroidism. In each case plasma concentrations of LH, FSH, PRL, TSH, alpha-subunit, ACTH before and after appropriate stimulation with TRH, metoclopramid, LH-RH, GRF or metyrapon were determined with RIA. Every patient was examined both with CT and MRI (0.5 T Toshiba MRT 50a). All 17 patients had abnormal MR images of hypothalamo-pituitary area, while only 10 of them had abnormalities in their CT scans. In remaining 7 patients the MRI revealed: three cases of congenital malformation of hypophyseal stalk, two cases of empty sella, one posttraumatic lesion of the stalk and one case of granulomatous infiltration of the stalk. We found MRI superior to CT in establishing the case of hypopituitarism.     

Rapid Laboratory Diagnosis of an Outbreak of Influenza

The specific diagnosis of an outbreak of acute febrile disease in a sanatorium ward was made rapidly by examining sera from the nine patients for antibodies to a series of likely viruses. All eight convalescent cases had high antibody levels to Influenza A2 (Asian) virus and the case at the acute stage had none. This serological diagnosis provided the first information that influenza was present in the area. Later, Influenza virus Type A2 was grown from the acute case.     

Management of HIV infected health care workers: lessons from three cases.

Three cases in which doctors in Glasgow were diagnosed as having HIV infection were all handled differently in relation to telling patients and the media. In the first patients were not told because the doctor had been doing administrative work and there was thought to be no risk to patients; although the media did report the case, it accepted the assurances given. In the second case, where a doctor had done many jobs in different specialties and places, the media identified the doctor before most patients had been informed: most calls to the helpline subsequently set up by the health authority were from patients who had not been treated by this doctor. This episode, however, allowed the incident team to be prepared for the next case, enabling the helpline to be established swiftly. In this case the doctor voluntarily identified himself, and this served to allay public fears and reduce the number of inappropriate calls to the helpline.     

1株多重耐药申克孢子丝菌感染的治疗

报道1例由多重耐药申克孢子丝菌引起的面部孢子丝菌病。患者61岁男性,面部皮疹2 a余,先后口服伊曲康唑、特比萘芬和氟康唑治疗16个月无效。患者皮损经真菌镜检和培养确诊为孢子丝菌病,分离的申克孢子丝菌体外药敏试验显示其菌丝相和酵母相对上述三种药物均不敏感。给予患者口服10%碘化钾溶液治疗3个月获得痊愈。     

A Case of Post Kala-Azar Dermal Leishmaniasis in India

Post kala-azar dermal leishmaniasis (PKDL) is a rare disease. This is a solitary case report from Orissa, India. We describe a case of PKDL in a 55-year-old male who presented with multiple nodular lesions over face, trunk, and extremities. The patient had been to an endemic area of kala-azar and had a previous history of leishmaniasis. Fine needle aspiration cytology samples from skin nodules revealed Leishmania amastigotes.     

Experimental studies on vertical infection of mice with Japanese encephalitis virus. IV. Effect of virus strain on placental and fetal infection

An experiment was carried out to examine the effect of an inoculated strain of Japanese encephalitis virus on the establishment of experimental vertical infection of mice with this virus. In it, closed-colony mice of the CFW strain were inoculated intravenously with seven strains of the virus at 7 days of pregnancy. After that, an attempt was made to recover the virus from placenta and fetus, so that the infection rate of each strain might be determined. As a result, the infection rate was high for both placenta and fetus in the case of the AS-6 and Sagara strains both of which had undergone three passages in the mouse brain. The placental infection rate was high and the fetal infection rate relatively low in the case of the JaGAr01 and Fuji strains which had undergone 7 and 150 passages, respectively, in the mouse brain. The infection rate was very low for both placenta and fetus in the case of the Nakayama-Yakken strain which had undergone more than 100 passages in the mouse brain. There was no difference in the severity of viremia after inoculation between the AS-6 and Fuji strains. Both placental and fetal infection rates were low in the case of the JaTH160 strain which had undergone passages in mice by intraperitoneal inoculation and which presented a strong peripheral infectivity and induced a severe viremia after inoculation. Neither placental nor fetal infection occurred in the case of the S- strain used as live virus vaccine. These results indicated that placental and fetal infection rates varied from one virus strain to another.(ABSTRACT TRUNCATED AT 250 WORDS)     

药物涂层支架与金属裸支架治疗ST段抬高型心肌梗死的临床价值比较

目的：评价药物涂层支架（DES）与金属裸支架（BMS）在急性心肌梗死患者中应用的安全性和有效性。方法：选择2003年1月-2010年12月,在我院确诊的急性sT段抬高型心肌梗死（STEMI）167例患者,其中使用BMS65例,DES102例。对比分析两组患者住院期间和出院后1年内的主要心血管或脑血管事件（MAACE）的发生情况及支架内血栓形成的发生率。结果：至随访结束,BMS组有1例患者猝死,5例出现复发心绞痛。DES组有1例突发急性左心衰后死亡,1例复发心绞痛和1例发生亚急性支架内血栓。结论：DES应用于STEMI具有较好的安全性,其术后MAACE发生率较BMS低。     

Selective Angiography in the Diagnosis of Hydatid Disease of the Liver

Six cases of cystic hydatid disease of the liver studied by selective angiography are described. In three of these a very characteristic triad of signs was demonstrated. In the fourth case, where the cysts were relatively small and restricted to the left lobe of the liver, no angiographic abnormality and could be found although the diagnosis was strongly suspected clinically. In the fifth case, where the cyst had virtually extruded itself from the liver and had undergone chronic leakage, the findings were atypical. The sixth patient had an old heavily calcified, non-symptomatic cyst, and here the angiographic findings were unremarkable. We believe that these cases illustrate the great value of selective angiography in this condition and some of its limitations.     

Finite element analysis of stresses developed in blood sacs of a pusherplate blood pump

Mechanical circulatory support (MCS) devices are blood pumps that support or replace the function of the native heart. It is important to minimize the material stresses in the flexing blood sac or diaphragm in order to increase the duration of support these devices can provide. An axisymmetric finite element model of a pusherplate blood pump was constructed to evaluate the effect of various design parameters on the material stresses in a segmented poly(ether polyurethane urea) seamless blood sac. The design parameters of interest were the sac thickness, pump case wall taper, and radius of the sac between the pusherplate and pump case wall. The analysis involved a quasi-static analysis of the systolic ejection phase of the pump. The finite element solution suggested that the principal stresses and strains increased almost linearly with sac thickness. The pump case wall taper had the largest effect; decreasing the peak principal stresses by approximately 35% when the pump case was straight versus tapered. Lastly, the model demonstrated that the radius of the blood sac between the pusherplate and pump case wall had little or no effect on the magnitude of the blood sac stresses. Therefore, this study suggests that in order to minimize the stresses in a blood sac of a pusherplate blood pump, a straight pump case should be chosen with the thinnest sac.     

近平滑念珠菌引起真菌性膝关节炎：病例报告及文献回顾

报告1例由近平滑念珠菌引起的膝关节炎并进行相关骨关节真菌感染的文献回顾.患者,男,53岁,有糖尿病史及左侧腘窝皮肤浅表小肿瘤切除史,因左膝关节反复疼痛7 a,逐渐加重伴跛行6个月入院.临床表现为左膝关节明显红肿,影像学发现关节腔内滑膜增生,临近胫骨上端及股骨下端有灶性骨破坏、吸收,关节腔积液查见真菌,鉴定为近平滑念珠菌.经关节镜清理术及静脉用氟康唑治疗后症状改善,随访2 a无复发,已恢复日常活动.本文结合本例患者进行了骨关节真菌感染的相关文献复习,对骨关节感染的相关因素及治疗等内容进行了回顾,其结果对临床相关医生具有重要参考价值.     

A case of silent thyroiditis associated with idiopathic thrombocytopenic purpura

A 51-year-old woman had symptoms of thyrotoxicosis which disappeared spontaneously within two months. She was diagnosed as a case of silent thyroiditis on the basis of both the clinical course and the laboratory data such as low uptake of radioactive iodine and technesium. She also had petechiae in her arms which were diagnosed as an idiopathic thrombocytopenic purpura (I.T.P.). This case would seem to expand the spectrum of the coexistence of autoimmune thyroid diseases and I.T.P. which is believed to be an autoimmune disease.     

Mucocutaneous leishmaniasis as presentation of HIV infection in Sardinia,insular Italy

Leishmaniasis is endemic in Sardinia but only cutaneous and visceral cases have been reported to date. We report a case of mucocutaneous leishmaniasis as presentation of HIV infection in a Sardinian patient who had never visited endemic areas. Serological and clinical diagnosis was cytologically and histopathologically confirmed. The patient had a good response to treatment with liposomal amphotericin combined with highly active antiretroviral therapy without recurrences after four years. Our case report highlights the need to better assess the circulation of species, risk factors and clinical spectrum of Leishmania infection in the Italian Mediterranean islands.     

超声引导改良外周静脉导入中心静脉置管术临床应用经验

目的:探讨超声引导下改良的外周静脉导入中心静脉置管术(Peripherally Inserted Central Catheter,PICC)的临床应用。方法:对42例有恶性肿瘤病史需行PICC置管、浅静脉直视下不明显或触摸不到、不适合盲穿患者42例进行超声引导下改良的PICC术。改良方法包括穿刺支架超声引导以及用一次性使用麻醉用针替代Seldinger包内的穿刺针进行,并与23例标准PICC法对比分析穿刺成功率及穿刺并发症发生率。结果:两种方法穿刺成功率均为100%,其中改良PICC患者41例穿刺一次成功,一次成功率为97.6%;标准PICC患者21例穿刺一次成功,一次成功率为91.3%。两种方法一次成功率差异无统计学意义(P0.05)。42例改良患者中发生2例并发症,包括局部水肿1例及导管异位1例;23例标准PICC患者中发生6例并发症,包括局部水肿2例,导管异位1例,静脉炎1例及局部感染2例。两种方法并发症发生率差异有统计学意义(P=0.019)。结论:超声引导下改良的PICC术一次成功率高,并发症少,值得临床推广。     

Teratogenic effects of diphenylhydantoin.

A child aged 24 months had multiple congenital abnormalities and delayed development. The 28-year-old mother had been treated since childhood with anticonvulsants. Her previous pregnancies had resulted in three early spontaneous abortions and one child with severe bilateral cleft lip and palate. This case report further suggests a relationship between maternal diphenylhydantoin use and fetal anomalies.     

Risk of testicular cancer in cohort of boys with cryptorchidism.

OBJECTIVE: To determine the risk of testicular cancer in relation to undescended testis and its treatment based on recorded details of the maldescent, treatment, and biopsy from case notes. DESIGN: Cohort study. SETTING: Hospital for Sick Children, Great Ormond Street, London. SUBJECTS: 1075 boys with cryptorchidism treated by orchidopexy or hormones at the hospital during 1951-64. MAIN OUTCOME MEASURES: Relative risk of testicular cancer in the cohort compared with men in the general population. RESULTS: 12 testicular cancers occurred in 11 of the patients during follow up to mid-1990 (relative risk of cancer in males with cryptorchidism = 7.5 (95% confidence interval 3.9 to 12.8)). The relative risk fell significantly beyond 15 years after orchidopexy but did not decrease with younger age at orchidopexy. Risk was significantly raised in testes that had had biopsy samples removed during orchidopexy (relative risk = 66.7 (23.9 to 143.3) compared with a testis in a man in the general population) and was significantly greater in these testes than in undescended testes that had not had biopsy samples taken at orchidopexy (6.7 (2.7 to 13.5)). No reasons for biopsy or distinguishing clinical aspects of the testes that had had biopsy samples taken and later developed malignancies were evident in the case notes. No histological abnormalities were evident at initial biopsy except in one testis that had features of dysgenesis. CONCLUSIONS: Biopsy seems to be a stronger risk factor for testicular cancer than any factor previously identified. The trauma of open biopsy may contribute substantially to risk of malignancy or the testes may have been selected for biopsy on the basis of clinical factors predictive of malignancy but not mentioned in the case notes.     

Infection caused by the human immunodeficiency virus type 2 in the USSR

The serological study of 20 sera, showing atypical reaction with HIV-1 in the immunoblotting assay, for the presence of HIV-2 infection revealed some cases of this infection among Africans who had arrived to the USSR from Western Africa (5 cases) and Burundi (1 case); besides, in 1 case HIV-2 infection was detected in a Soviet female citizen having had many sexual partners among foreigners.     

Prolonged incubation period of salmonellosis in an outbreak of Salmonella enteritidis infection

An outbreak of Salmonella enteritidis infections occurred in Otaru, Japan, in September 1997. A total of 143 cases of salmonellosis were reported to the local Public Health Center. In this outbreak, one case had a 214-hr incubation period. We investigated 5 isolates including this case by phage typing and pulsed-field gel electrophoresis (PFGE) to determine the genetic heterogeneity of S. enteritidis. Five isolates were phage typed as reacted, but did not conform (RDNC) with identical reaction patterns and had quite similar PFGE patterns. Thus, the prolonged incubation period may not be attributed to genetic heterogeneity of the organism but rather to other factors.