Aniridia as part of a WAGR syndrome in a girl whose brother presented hypospadias

Aniridia can arise as part of the WAGR syndrome (Wilms tumour. aniridia, genitourinary anomalies, and mental retardation), due to a deletion or chromosomal region 11p13. We report a girl with a complete WAGR syndrome, whose brother presented hypospadias. Cytogenetic, FISH and molecular studies showed a deletion in one chromosome 11 of the patient. No cytogenetic rearrangement or deletion affecting the genes included in this region (PAX6 and WT1) were observed in her brother and parents. This excludes a higher risk than that of the general population for developing Wilms tumour in the brother and supports that the presence of WAGR syndrome in the patient and hypospadias in her brother is a chance association. We conclude that the identification and definition of the deletions in the WAGR region, which include the WT1 locus are important in order to identify a high tumour risk in infant patients with aniridia including those without other WAGR anomalies.     

Case report: Metaplastic carcinoma presenting as a breast abscess

Metaplastic breast carcinoma (MBC) is a rare neoplasm containing a mixture of epithelial and mesenchymal elements. The epithelial component is usually ductal carcinoma but may include other variants of breast carcinomas including squamous carcinoma and osteogenic sarcoma. There is a relative paucity of data regarding such tumours. Metaplastic carcinoma carries a prognosis not dissimilar to that of comparable ductal carcinoma. This is the case of a 57 year old patient with MBC presenting with a breast abscess. A thorough literature search has not revealed any previous reports of MBC presenting as a breast abscess.     

Hyperactives as young adults: preliminary report.

Thirty-five individuals aged 17 to 24 in whom severe chronic hyperactivity had been diagnosed 10 years before were studied together with 25 matched controls. There were no significant differences in mean height or weight or in electroencephalographic findings, but the mean pulse rate was significantly higher in the hyperactive group. Cognitive style tests indicated continued difficulty in reflection (resulting in more errors) but less impulsivity (longer reaction time) in the hyperactive individuals. Compared with controls, hyperactive subjects were continuing to have more scholastic difficulty, although this difference seemed to be less pronounced than 5 years before. Their adjustment in work situations and living arrangements did not differ significantly from that of the controls. Restlessness, both reported and observed, continued to be a problem for the hyperactive individuals, and socialization skills and sense of well-being continued to be poorer than in the controls. The hyperactive individuals did not show significantly more antisocial behaviour, nonmedical use of drugs or serious psychiatric disturbances.     

Socio-economic factors in relation to lipid profiles in young girl athletes

The influence of socio-economic factors on blood lipid values was studied in 4 groups of young female athletes. Based on type of sport (gymnastics and swimming) and of training intensity, the participants were subdivided into 25 talented, high achievement gymnasts (age 12.3 +/- 1.6 (SD) year), 42 non-talented, low achievement gymnasts (age 12.0 +/- 1.2 (SD) year), 12 high achievement swimmers (age 10.3 +/- 1.6 (SD) year), and 24 low achievement swimmers (age 10.8 +/- 1.6 (SD) year). With respect to socio-economic factors, no significant differences were observed between the two gymnastic groups nor between the two swimming groups. The blood lipid values revealed a significantly higher low density lipoprotein-cholesterol level and significantly lower high density lipoprotein-cholesterol/total cholesterol and high density lipoprotein-cholesterol/low density lipoprotein cholesterol ratios in the talented gymnasts as compared to the non-talented gymnasts. In the high achievement swimmers, low density lipoprotein-cholesterol and triglyceride levels were significantly lower and high density lipoprotein-cholesterol/total cholesterol was significantly higher as compared to the other swimmers. The Spearman rank order correlation coefficients for the relationships between socio-economic factors and blood lipid values were mostly weak or inconsistent. Therefore, no major influence of socio-economic factors on blood lipid values could be demonstrated in the groups investigated.     

Effectiveness of tobramycin in young children with Salmonella infection

The intestinal form of salmonellosis caused by S. typhimurium and the host immunity were studied in 108 infants. 60 infants were treated with ampicillin and the other 48 infants with tobramycin. The recovery period in patients treated with tobramycin was 8 days less as compared to the patients treated with ampicillin After discontinuation of the tobramycin use the pathogen was not detected in the repeated platings. Bactericidal function of neutrophils in these patients returned to normal within 15 days after the beginning of the treatment. Tobramycin was shown to be a highly active antibiotic in the treatment of salmonellosis of infants. No side effects were observed.     

误诊为头皮脓肿经抗生素及植皮治疗无效的脓癣——附2例报告

目的 报道2例误诊为头皮脓肿经长期抗生素及植皮治疗失败的须癣毛癣菌所致的脓癣病患者,分析脓肿和脓癣的鉴别要点。方法 例1为9岁男童,头皮外伤后脓肿、溃疡28d,经抗生素治疗无效,行植皮术后5d再发生脓肿溃疡。取皮损处断发行10％KOH涂片镜检、培养,发现并分离出致病真菌,沙堡弱琼脂培养基上呈白色粉状菌落,可使含尿素培养基变红,即尿素酶试验阳性,小培养见螺旋菌丝及分隔棒状大分生孢子,鉴定为须癣毛癣菌。例2为8岁女童,头顶脓肿、溃疡24d,抗感染治疗不愈而接受植皮,术后7d再发脓性丘疹。从皮损处标本中发现、分离出致病真菌,经上述方法鉴定为须癣毛癣菌。结果 2例患者结合真菌学检查和临床表现确诊为脓癣,予伊曲康唑100mg／d内服近2个月皮损均痊愈,但供皮区遗留瘢痕和色素改变。结论 真菌病原学检查是避免脓癣误诊的关键,伊曲康唑内服治疗脓癣有效、安全。     

Idiopathic premature ovarian failure in 63 young women

BACKGROUND: Premature ovarian failure (POF) in adolescents is defined as primary or secondary amenorrhea associated with high follicle-stimulating hormone (FSH) levels. In normal 46,XX patients, its etiology is most often unknown. We have evaluated the clinical, hormonal and ovarian phenotypes in patients with a normal karyotype who were diagnosed with POF before the age of 18. METHODS: Sixty-three patients were included in this retrospective study. RESULTS: The mean patient age was 20.4 years. The patients presented with three clinical patterns: lack of pubertal development (n = 23), primary amenorrhea with interrupted puberty (n = 18), and secondary amenorrhea with normal puberty (n = 22). Ten patients had a familial history of POF and 6 presented with hypothyroidism. The FSH, estradiol and inhibin B levels were not statistically different in the three clinical groups. Fifty percent of the patients presented small ovaries (length <2 cm) at ultrasonography. The presence of follicles was found at histology in only 7 of the 27 patients who underwent an ovarian biopsy. CONCLUSION: 46,XX patients presenting with early POF rarely presented a specific, identifiable disorder. We discuss the clinical management and different diagnosis strategies to improve our current knowledge of this syndrome.     

Postanginal sepsis syndrome with metastatic lung abscess in a young man

A postanginal Sepsis Syndrome with metastatic lung abscess caused by Fusobacterium necrophorumin a 25-year-old previously healthy man is described. The incomplete and ineffective antibiotic treatment at onset of angina ended progressively in septicaemia and metastatic infections in a 3-week time period. The early parenteral use of Metronidazole based only on the clinical picture, the Gram stain findings and the strict anaerobic feature of the blood isolate in parallel with the long-term antibiotic treatment were possibly the main reasons for the good outcome of this serious infection.     

Familial translocation 22/Y and partial autosomal trisomy in a young girl

Report on a translocation t(22;Y)(q12;p 13) with conservation of the NOR in normal members from 2 generations of a family. The proposita has in addition a small autosomal duplication, probably (1)(q44-ter) which could explain her mental deficiency.