Reduced recombination and paternal age effect in Klinefelter syndrome

Summary The parental origin of the additional sex chromosome was studied in 47 cases with an XXY sex chromosome consitution. In 23 cases (49%), the error occurred during the first paternal meiotic division. Maternal origin of the additional chromosome was found in the remaining 24 cases (51%). Centromeric homo- versus heterozygosity could be determined in 18 out of the 24 maternally derived cases. According to the centromeric status and recombination rate, the nondisjunction was attributable in 9 cases (50%) to an error at the first maternal meiotic division, in 7 cases (39%) to an error at the second maternal meiotic division and in 2 cases (11%) to a nullo-chiasmata nondisjunction at meiosis II or to postzygotic mitotic error. No recombination, and in particular none in the pericentromeric region, was found in any of the 9 cases due to nondisjunction at the first maternal meiotic division. Significantly increased paternal age was found in the paternally derived cases. Maternal age was significantly higher in the maternally derived cases due to a meiotic I error compared with those due to a meiotic II error. There were no significant clinical differences between patients with respect to the origin of the additional X chromosome.     

Anisakiasis: Report of 15 Gastric Cases Caused by Anisakis Type I Larvae and a Brief Review of Korean Anisakiasis Cases

The present study was performed to report 15 anisakiasis cases in Korea and to review the Korean cases reported in the literature. Total 32 Anisakis type I larvae were detected in the stomach of 15 patients by the endoscopy. Single worm was detected from 12 cases, and even 9 larvae were found from 2 cases. Epigastric pain was most commonly manifested in almost all cases, and hemoptysis and hematemesis were seen in 1 case each. Symptom manifestations began at 10-12 hr after eating fish in 73.3% cases. Endoscopy was performed 1-2 days after the symptom onset in most cases. The common conger, Conger myriaster, was the probable infection source in 7 cases. In the review of Korean anisakiasis cases, thus far, total 645 cases have been reported in 64 articles. Anisakis type I larva was the most frequently detected (81.3%). The favorable infection site of larvae was the stomach (82.4%). The common conger was the most probable source of human infections (38.6%). Among the total 404 cases which revealed the age and sex of patients, 185 (45.8%) were males, and the remaining 219 (54.2%) were female patients. The age prevalence was the highest in forties (34.7%). The seasonal prevalence was highest in winter (38.8%). By the present study, 15 cases of gastric anisakiasis are added as Korean cases, and some epidemiological characteristics of Korean anisakiasis were clarified.     

Injuries to the Liver: Analysis of 20 Cases

Twenty cases of liver injury among 55 consecutive cases of abdominal injury submitted to laparotomy over a four-year period are reported. Forty-four of the cases were blunt injuries, and the cases of liver injury were in this group. Road traffic accidents accounted for 37 of the 44 cases and 17 of the 20 liver injuries. Except in two cases injury to the liver was associated with injury to other organs. Severe chest injury was found in 40% of the cases and serious skeletal injury in 45%. The overall mortality in blunt injury to the liver was 20% (4 cases) and was directly attributable to the liver injury in only one case.Liver injuries are classified as minor or major according to the depth of the wound and the associated destruction of liver tissue. Liver resection is advocated for major injuries. Right hepatic lobectomy was performed on five occasions and three of the patients survived. Death in the other two was due to associated injuries. The remarkable regenerative capacity of the liver is emphasized.     

Statistical survey of 150 cases with sporotrichosis

A survey of 150 cases with sporotrichosis seen at the Dermatological Clinic of Kurume University Hospital from February 1962 to October 1986 was reported. The proportion of cases with sporotrichosis to the total number of outpatients was 0.17%. Greater percentage of cases fell into the less than 10 years old or more than 40 years old groups. The male to female ratio was 11.46, and 38 cases occurred in farmers. Geographic distribution was remarkable, especially around the Chikugo and Yabe river. Sixty-four cases showed the cutaneous lymphangitic type and 85 cases the localized cutaneous type and one case atypical type. The face and upper extremities were the most affected. The sporotrichin test was positive in 117 of 131 cases. The causative organism was demonstrated in tissue sections in 69% of the cases.     

Results of pregnancies characterized by a decrease in the level of alpha-fetoprotein in the maternal blood

Pregnancy outcome was followed in 123 women showing maternal serum alpha-fetoprotein, less than or equal to 0.50 MOM. In 28 cases AFP was secondarily considered as normal either after ultrasonography and correction of gestation age or after a second sample normal result. In 95 cases AFP level was confirmed lowered; perinatal outcome was normal in 70 cases and abnormal in 25. Among these 25 cases, 3 autosomal trisomies occurred, 2 trisomies 18 and 1 trisomy 21; in the 22 other cases, we observed antepartum risk factors (10 cases with impending premature labor or premature labor, 9 cases with chronic hypertension, 2 cases with Ag HBs hepatitis and 1 case with diabetes).     

Phyllodes tumour: cytologic and histologic presentation of 22 cases, and immunohistochemical demonstration of p53

A retrospective study of 22 cases of phyllodes tumour (PT) was undertaken to evaluate the potential value of fine needle aspiration (FNA) cytology in the diagnosis of benign and borderline PT. Histological material was available from 12 patients with typical benign PT (group 1), six patients with less typical changes (group 2) and four cases of borderline PT (group 3). Cytological presentation of PT in these cases was similar to that described by other cytologists, although abundant cellular material was obtained in only eight FNAs, naked nuclei were present in nine cases only, and atypical or suspicious cytological features were found in seven cases. Comparative analysis of p53 was made in nine patients with PT, five cases with other benign breast lesions and five with malignant lesions. p53 reaction was positive in five of nine patients with PT (all cases from groups 2 and 3), compared with two of five cases of carcinoma. p53 was negative in all patients with PT from group 1 and the five other benign cases. We suggest that cytopathologists should be careful when a myxoid stromal component is present in cytological smears.     

Entozyme in treatment of psoriasis

Entozyme,(R) a pancreatic extract taken orally, was used in 36 cases of psoriasis previously recalcitrant to other treatment. In 24 cases this extract was the only treatment given, and good response occurred in 19 cases within 4 weeks to 3 months, with complete clearing in four cases. In 11 of 12 cases in which local treatment was supplemented by Entozyme, lesions cleared in 2 weeks to 3 months or longer.     

Azoospermias au Sénégal: quelle prise en charge à l’heure de l’ICSI?

Objective

to determine the place of azoospermia among the various causes of infertility in Senegal.

Material and methods

141 cases of azoospermia were identified from a series of 492 infertile patients. The clinical profile, laboratory results and outcome after management were studied.

Results

The mean age was 40.6 years. Testicular atrophy was detected in 34.75% of cases. Azoospermia was secretory in 71.69% of cases. A varicocele was associated in 56% of cases. Varicocele repair was performed in 32.62% and allowed an improvement of sperm parameters in 28.3% of cases. Testicular biopsy, performed in 53 cases, demonstrated 2 cases of Sertoli cell syndrome, 3 cases of arrested maturation, 8 cases of hypo spermatogenesis, and 25 cases of seminiferous tubules. Forty nine cases of azoospermia were associated with normal FSH levels. Only one patient was treated by assisted reproductive technologies (ART).     

Rhodotorula infection. A systematic review of 128 cases from literature

Rhodotorula is an emerging opportunistic pathogen, particularly in immunocompromised patients. Many cases of fungemia associated with catheters, endocarditis, peritonitis, meningitis, and endophthalmitis are infections incited by this yeast. The main purpose of this study was to review all cases of Rhodotorula infection reported in the literature and to describe risk factors, underlying conditions and outcome. From 128 cases, 79% were fungemia (103 cases), 7% eye infections (nine cases) and 5% (six cases) peritonitis associated with continuous ambulatory peritoneal dialysis. Eighty seven percent of Rhodotorula infections are associated with underlying immunosuppression or cancer. The most common isolated risk factor associated with Rhodotorula infection was the use of a central venous catheter, which was found in 83.4% of Rhodotorula fungemia (86 cases). Rhodotorula mucilaginosa was the most common species of fungemia (74% of cases), followed by Rhodotorula glutinis with 7.7%. The species was not identified in 17% of the cases of fungemias. Amphotericin was the drug of choice in the treatment of fungemia and most of the eye infections were treated with topical amphotericin, although all patients lost their vision. All peritonitis cases associated with continous ambulatory peritoneal dialysis needed to have the Tenckoff catheter changed. The overall mortality of Rhodotorula infection was 12.6%.     

ENTOZYME? IN TREATMENT OF PSORIASIS

Entozyme,® a pancreatic extract taken orally, was used in 36 cases of psoriasis previously recalcitrant to other treatment. In 24 cases this extract was the only treatment given, and good response occurred in 19 cases within 4 weeks to 3 months, with complete clearing in four cases. In 11 of 12 cases in which local treatment was supplemented by Entozyme, lesions cleared in 2 weeks to 3 months or longer.     

MRI在喉癌术前分期中的临床应用价值

目的:探讨MRI在喉癌术前诊断、分期中的临床应用价值。方法:对114例行电子喉镜检查并经病理学证实为喉癌的患者行术前MRI扫描,根据图像资料判断肿瘤侵及范围及判断有无淋巴结转移;同时进行术前分期、分型,并与术后病理分期、分型对照研究。结果:术前MRI T1期27例,其中25例经病理证实为T1期,2例为T2期,准确率为92.6%;术前MRI T2期39例,其中经病理证实35例为T2期,3例T1期,1例T3期,准确率为89.7%;术前MRI T3期29例,其中经病理证实25例为T3期,4例T2期,准确率为86.2%;术前MRI T4期17例,其中经病理证实15例为T4期,2例T3期,准确率为88.2%;MRI术前T分期总准确率为87.7%。N1期准确率为81.8%,N2期准确率为94.1%。结论:MRI图像能很好地显示喉癌肿块的侵及范围及淋巴结转移等,对喉癌的术前分期、分型及制定合理的手术方案具有指导意义。     

濮阳市2008—2012年手足口病流行病学特征分析

目的了解濮阳市手足口病流行病学特征,为制定防控策略提供科学依据。方法通过国家疾病监测信息管理系统收集的全市2008—2012年6月6日手足口病疫情资料进行描述和分析,并对部分病例和重症病例标本进行肠道病毒病原学检测。结果全市共报手足口病16 492例,发病高峰是每年的3-5月(第12～20周),呈典型的单峰型曲线;发病年龄以0～4岁居多;男性多于女性;散居儿童多于托幼机构儿童,爆发病例多发生在托幼机构,手足口病病原有EV71、CoxA16和其他肠道病毒,以EV71和CoxA16为主。结论手足口病发病有明显的季节性、年龄和性别差异,小年龄组儿童是手足口病预防控制重点人群,流行年度和流行季节的优势毒株为EV71,重症患者中EV71占到86.35%;非流行年和季节手足病例主要由CoxA16和其他肠道病毒引起。手足口病防控重点应体现在对病例分类管理上,同时应继续加强重症病例疫情监测和爆发控制。     

622例肺癌患者远处转移临床特征的回顾性分析

目的:探讨不同病理类型IV期原发性支气管肺癌的远处转移特点。方法:回顾性分析我科收治的622例诊断明确、资料完整的IV期肺癌患者,比较不同病理类型肺癌患者各器官远处转移发生率,并进行统计学分析。结果:622例IV期肺癌患者中,鳞状细胞癌188例(30.2%),腺癌275例(44.2%),小细胞癌130例(20.9%),大细胞癌5例(0.8%),腺鳞癌14例(2.3%)。平均年龄55.4岁,男女比例为2.60:1,高发年龄为40~60岁。各器官远处转移发生率从高到低依次为:骨267例(42.9%),胸膜212例(34.1%),双肺162例(26.0%),脑148例(23.8%),肝132例(21.2%),肾上腺53例(8.5%),心包50例(8.0%),皮下转移6例(1.0%),肌肉3例(0.5%),眼球和脊髓各1例(0.2%)。单器官转移共283例(45.5%),多器官转移共339例(54.5%),最多为6个器官远处转移。结论:不同病理类型肺癌有各自不同的远处转移特点及临床特征,应选择相应的检查并制定针对性治疗方案。     

HIFU治疗子宫腺肌病142例的临床疗效分析（附12例妊娠病例）

目的：评价高强度聚焦超声（highintensityfocusedultrasound,HtFU）治疗子宫腺肌瘤的临床疗效及安全性。方法：选取2007年12月--2012年12月在我院行H删治疗的142例子宫腺肌病患者,治疗后连续1、3、6、12个月随访,评价患者病灶的超声影像学变化及临床症状的改善情况。结果：治疗后,有效随访118例,彩超检查显示治疗后第1个月子宫体积平均缩小35％,第3个月缩小59％,第6个月缩小85％,第12个月缩小80％。110例经量增多的子宫腺肌病患者中,3例在治疗后12个月经量恢复正常水平,45例在治疗后12个月经量明显减少,基本恢复正常值,68例在治疗后12个月经量较治疗前明显减少,但仍高于正常值;2例在治疗后12个月经量变化不大,总有效率为98．3％。118例痛经的子宫腺肌病患,34例在治疗后随访的12个月内痛经消失,80例在治疗后随访的12个月内仍有轻度痛经,4例在治疗后随访的12个月内仍有中度以上痛经,总有效率为96．6％。随访过程中发现12例再妊娠病例。结论：HIFU治疗子宫腺肌病具有安全,有效,并发症少的特点,且不影响患者妊娠,能够满足患者保留子宫、再生育的需求。可作为一种无创治疗子宫腺肌病的有效治疗方法。     

A population-based study of first and second-line drug-resistant tuberculosis in a high-burden area of the Mexico/United States border

The resistance of 139 Mycobacterium tuberculosis (MTB) isolates from the city of Monterrey, Northeast Mexico, to first and second-line anti-TB drugs was analysed. A total of 73 isolates were susceptible and 66 were resistant to anti-TB drugs. Monoresistance to streptomycin, isoniazid (INH) and ethambutol was observed in 29 cases. Resistance to INH was found in 52 cases and in 29 cases INH resistance was combined with resistance to two or three drugs. A total of 24 isolates were multidrug-resistant (MDR) resistant to at least INH and rifampicin and 11 MDR cases were resistant to five drugs. The proportion of MDR-TB among new TB cases in our target population was 0.72% (1/139 cases). The proportion of MDR-TB among previously treated cases was 25.18% (35/139 cases). The 13 polyresistant and 24 MDR isolates were assayed against the following seven second-line drugs: amikacin (AMK), kanamycin (KAN), capreomycin (CAP), clofazimine (CLF), ethionamide (ETH), ofloxacin (OFL) and cycloserine (CLS). Resistance to CLF, OFL or CLS was not observed. Resistance was detected to ETH (10.80%) and to AMK (2.70%), KAN (2.70%) and CAP (2.70%). One isolate of MDR with primary resistance was also resistant to three second-line drugs. Monterrey has a high prevalence of MDR-TB among previously treated cases and extensively drug-resistant-MTB strains may soon appear.     

Chronic active hepatitis in alcoholics

In 42 chronic alcohol abusers liver biopsy was performed and chronic active hepatitis was diagnosed in 11 cases. In 4 cases etiology could be attributed to chronic HBV infection--they were positive for HBsAg in serum, three were positive for HBeAg and one case had anti-delta antibodies. In 7 cases etiology was obscure, at least in some of them alcohol could have been the underlying factor. Liver disease in these particular cases was clinically more severe than chronic active hepatitis due to infection with HBV and non-A, non-B viruses in non-drinkers. Two cases progressed into liver decompensation despite 1 and 2 years of abstinence, respectively. Chronic active hepatitis in alcoholics constitutes a frequent pathology, its etiology is variable, in some cases obscure.     

DNA image cytometry in acquired immune deficiency syndrome (AIDS)

In nine cases with the acquired immune deficiency syndrome (AIDS), including four stage I cases, three stage II cases and two stage III cases, DNA image cytometry was performed on Feulgen-stained lymph node imprint smears. Diploidy was found in three cases, tetraploidy in three cases and octoploidy in two cases. Aneuploid DNA distribution patterns were not seen. The lymphoid cells showed an enormously increased proliferation rate. Two cases in stage I revealed characteristic intranuclear DNA inclusions in lymphoid cells. These results indicate that DNA image cytometry may be useful as an adjunct to surgical pathology in certain cases to assist in the differential diagnosis between AIDS and benign conditions of the lymphoid system as well as between AIDS and malignant lymphomas, which usually have aneuploid DNA patterns.     

FISH和IHC检测HER2基因及蛋白在乳腺癌诊治中的应用

目的对比研究免疫组织化学(IHC)与荧光原位杂交(FISH)方法检测乳腺癌中C-erbB-2蛋白表达和HER2基因扩增,评估两种方法的实际应用价值。方法 IHC和FISH法分别检测58例乳腺癌组织中C-erbB-2蛋白表达和HER2基因扩增状况,并进行一致性分析。结果IHC检测蛋白阳性2+和3+共22例,占总病例的37.9%,58例乳腺癌中FISH检测出HER2基因扩增17例,占29.3%。IHC检测C-erbB-2蛋白3+的12例中11例HER2基因扩增阳性,1例无扩增;C-erbB-2蛋白2+者10例,其中5例可见HER2基因扩增;C-erbB-2蛋白1+者11例HER2基因扩增仅1例。C-erbB-2蛋白阴性病例共25例均未检测到基因扩增。结果显示IHC检测C-erbB-2蛋白与FISH检测HER2基因扩增状态有较高的一致性(k=0.681,P0.01),C-erbB-2蛋白阴性和3+标本与HER2基因扩增阳性率比较差异无统计学意义(P0.05);而C-erbB-2蛋白1+和2+病例与其HER2基因扩增差异具有统计学意义(P0.05)。结果 IHC检测C-erbB-2蛋白强阳性(3+)和阴性(0)与HER2基因扩增有较高的一致性,可作为临床是否应用Herceptin治疗的依据,而C-erbB-2蛋白2+和1+病例必须进一步行HER2基因扩增检测。     

Fluorescent antibody study of diseased, end-stage human kidneys.

Forty cases of diseased kidneys at end-stage were studied by fluorescent antibody technique in search for viral etiology of glomerulonephritis and other renal diseases. Among these 40 cases, 12 (30%) were ascribed to immune complex disease because of detection of immunoglobulins and complement in glomeruli of the same kidney specimen. In 8 cases (20%) only complement was detected in glomeruli. In the remaining 50% neither complement nor immunoglobulin deposit was found in glomeruli. The etiologies of the latter cases remain unknown. Of 12 cases of kidney disease of immune complex origin, hepatitis virus type B surface antigen was detected in 2 cases. In these 2 cases the magnitude of immune complex deposits with complement was greater than that of other cases. Other than hepatitis B virus antigen, no other viruses including Coxsackieviruses, ECHO viruses, and HSV-1 could be detected by indirect fluorescent antibody techniques. The proportion of complement deposit to the deposition of complement with immune complex in the diseased kidneys at end-stage was calculated and statistically analyzed.     

Cytomorphological spectrum in gynaecomastia: a study of 389 cases

Cytomorphological spectrum in gynaecomastia: a study of 389 cases The objective of this study was to document the spectrum of cytomorphological features in aspirates from gynaecomastia. During a 22-year period (July 1979 to June 2001) fine needle aspirations (FNA) were conducted on 651 males with a breast lesion. Fine needle aspirate slides from 529 benign cases were reviewed along with the histological sections of 54 cases where available. Of the 529 FNA, 140 were excluded (105 unsatisfactory, five cystic fluid aspirated, 30 inflammatory lesions). In 134 of 389 cases reviewed florid gynaecomastia was observed while the remainder showed benign ductal cells (BDC) in varying quantities from less than five to more than 25 groups. Of the 134 cases with florid gynaecomastia, 49 had a fibroadenoma-like picture (FLP), where a large number of BDC fragments with a staghorn configuration, prominent stromal fragments with contoured stroma and bare bipolar nuclei were seen abundantly in all cases. In 85 cases the features resembled fibroadenomatoid hyperplasia (FH), with only an occasional staghorn configuration of BDC seen in 82% of the cases. In 83% of cases stromal fragments of varying proportions were seen but a contoured stroma was seen in only 3.5% of cases. Both stromal and epithelial atypia were seen in 41% and 86% cases, respectively, of FLP, and in 7% and 69% cases of FH. Columnar cells, apocrine cells and foam cells were seen in approximately similar quantities in both the lesions. Vascularized stroma was seen in 22% of the cases with FLP but in only 4.5% of cases those with FH. Cytohistological correlation performed in 54 cases showed marked variation. Fine needle aspirates showed florid changes in 13 of the 41 cases of simple gynaecomastia and two of the eight cases with florid gynaecomastia on tissue sections. In conclusion, a wide spectrum of morphological features are encountered in FNA from benign male breast lesions. It is important to recognize these to avoid a false-positive diagnosis.