Esophageal tuberculosis. Endoscopic cytology as a diagnostic tool

OBJECTIVE: To study the utility of endoscopic cytology in the diagnosis of esophageal tuberculosis in clinically unsuspected cases. STUDY DESIGN: During a period of four years, endoscopic cytology of esophageal lesions was performed on 228 patients. In eight (3.5%) the cytologic diagnosis of esophageal tuberculosis was suggested on smears. Upon endoscopic examination, the sites of involvement were mid esophagus (five cases), upper esophagus (two cases) and lower esophagus (one case). Linear ulcer was seen in six cases; growth and narrowing of the lumen were seen in one case each. Endoscopic brush smears in seven cases and fine needle aspiration cytology smear in one case were collected. Air-dried smears stained by Giemsa stain were reviewed for detailed cytologic assessment. RESULTS: Smears showed well-defined granulomas with necrosis in five cases and granulomas without necrosis in three. Cytologic evidence of concurrent poorly differentiated squamous cell carcinoma was observed in one case. Tubercle bacilli were demonstrated in five cases. Endoscopic biopsy showed granulomas in three cases and tubercle bacilli in one case. In six cases there was no clinical or radiologic evidence of tuberculosis at other sites, thereby suggesting the possibility of primary esophageal tuberculosis. The remaining two cases had a past history of tuberculosis; one presented with cervical lymphadenopathy and one mediastinal lymphadenopathy. All patients received antitubercular treatment, and the patient with concurrent malignancy also received radiotherapy. All but one of the patients who succumbed to aspiration pneumonia responded to treatment. CONCLUSION: Endoscopic cytology is a useful modality in the diagnosis of esophageal tuberculosis in clinically unsuspected cases.     

A histochemical study in Huntington's disease and control cases.

1. Extracellular deposits of cerebrosides and free fatty acids were found in the formaldehyde fixed frozen sections of the frontal lobe in 8 cases of Huntington's disease, in one case of the infantile form of Gaucher's disease, 2 cases of Krabbe's globoid cell leucodystrophy, 2 cases of metachromatic leucodystrophy, one case with multiple sclerosis, 2 cases with cerebral contusion and one case with bacterial meningitis. 2. The cerebroside deposits were present in the white matter as well as in the grey matter. 3. The significance of these findings in relation to their etiology is discussed.     

Stereotactic biopsy and cytological diagnosis of solid and cystic intracranial lesions

Cytological smears from 115 consecutive cases of stereotactic biopsies of intracranial lesions were reviewed. Ninety-five lesions were solid and 20 cystic. Material from 90 solid and 13 cystic lesions was sent both for cytological and histological examination. In 66 of the solid lesions, the cytological diagnosis was confirmed by histology (five were benign lesions and 61 malignant tumours: 56 primary brain tumours, three metastases and two lymphomas). In 24 cases with discrepant cytology and histology, the histology was inconclusive or insufficient in 14 cases, while cytology established the diagnosis of astrocytoma grade II (seven cases), metastases (two cases), gliosis (one case) and benign (four cases). Necrosis of tumour type was observed cytologically in six patients representing glioblastoma (two cases), anaplastic astrocytoma (one case), lymphoma (one case) and normal brain (two cases) histologically. Three cases reported cytologically as benign were primary brain tumour (two cases) and gliosis (one case). One smear of a glioblastoma was insufficient for cytological diagnosis. Cystic lesions were cytologically benign in 17 cases and malignant in three cases. Histology from the cyst wall confirmed the malignant diagnosis in three cases and showed tumour in six more cases, a benign process (two cases), changes induced by radiotherapy for arteriovenous malformation (one case) and insufficient material (one case). In conclusion, cytology from solid brain lesion allows an accurate diagnosis and subtyping of tumours in a majority of cases, and can thus be used to choose type of therapy. In cystic brain tumours, however, examination of the cystic fluid, is often inconclusive and a biopsy from the cyst wall should be performed if there is clinical or radiological suspicion of tumour.     

Are bowing of long tubular bones and preaxial polydactyly signs of the Meckel syndrome?

We describe four cases with signs resembling those of Meckel syndrome. Two cases demonstrated postaxial polydactyly; one case, preaxial polydactyly; and one case, pre- and postaxial polydactyly. Since there is at least one other reported case with preaxial polydactyly, it may be a rare sign of the Meckel syndrome. In all four cases, various degrees of bowing of the long tubular bones were observed. Since at least two cases exhibited typical Meckel syndrome and since in a few further reported cases X-ray examination revealed bowing of long tubular bones, this sign is considered to be a further, hitherto not well recognized sign of the Meckel syndrome, and not grounds for delineation of a new syndrome. An extensive review of the literature revealed, that shortened and bowed extremities may be present in about one-sixth of all cases with Meckel syndrome.     

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。     

Rhinosporidiosis in man: Case reports

Three cases of rhinosporidiosis with complications, hitherto not reported, are presented. Frog-faced deformity and seizures were observed in one case, excessive bleeding, loss of olfactory sensation and septal perforation were noticed in the second case, while the third one exhibited a disseminated type of the disease. Clinical findings of these cases are discussed.     

Spectrum of karyotypic aberrations in cultured human meningiomas

Twenty-two unselected cases of meningioma were initiated in tissue culture on an extracellular matrix derived from bovine corneal endothelial cells. The cultures were available for karyotypic analysis at passages 1 to 5, representing cultivation periods of up to two months. Histologically, the meningiomas were meningiotheliomatous (16 cases), fibrous (1 case), angiotheliomatous (1 case), microcystic (2 cases), and parenchymatous (2 cases). Two of the meningotheliomatous cases had histological signs of malignancy, another case showed increased signs of proliferation, and two cases were recurrences, one after a complete course of irradiation. In five cases no structural chromosome aberrations were found. Monosomy of chromosome 22 was found in six cases and was associated with other random aberrations. Clonal or random aberrations without monosomy 22 were present in 11 cases, including one case with trisomy 7 and another case with a stable translocation marker, t(4;7). In these latter two cases, EGF-receptor binding was not elevated, compared to other meningiomas. Our results illustrate that, in addition to the frequent involvement of chromosome 22, numerous other individual clonal karyotype aberrations exist in meningioma cell populations, reflecting the heterogeneity of biological and pathological findings.     

A clinical and cytogenetic investigation carried out in a special institution for mentally retarded patients: preliminary results concerning 82 cases of oligophrenia (author's transl)]

A clinical and cytogenetic investigation carried out in a special institution for mentally retarded patients revealed 82 cases of oligophrenia, amongst whom were found 56 normal karyotypes (68.3%). Out of 25 karyotypes with chromosome anomalies or variants there were 18 cases of trisomy 21 and 7 others: one case of mosaicism with balanced translocation, 46,XX/46,XX,6p+,17q-; one case of partial trisomy, 46,XX,11q+; one case of pericentric inversion, 46,XY,inv(1) (p13,q21); one case with 8% chromosome breaks; three cases of marker chromosomes, of which one was of karyotype 46,XX,1qh+, and two (oligophrenic sisters) 46,XX,21p+. Moreover, there was an interesting case of testicular feminisation in a 9-year-old girl with karyotype 46,XY. The authors' results corroborate those obtained in several important previous studies based on much larger numbers of patients. Amongst the 56 cases where the karyotype was shown to be normal, there were 15 for whom a probably exogenic cause of the oligophrenia could be established, occurring mainly during the perinatal period. The authors were also able to confirm that the genetic factor plays an important role in the incidence of mental retardation, since in 22 examined patients, i.e. 26.8% of all cases, the condition was of familial type. Some interesting observations of idiopathic oligophrenia are reported, as well as several cases with well-known syndromes (Crouzon's and Cornelia de Lange's syndromes, hypothyroidism). Two cases of incest between father and daughter, which had produced children with serious oligophrenia associated, in one case, with deaf-mutism, microphthalmia, microcephaly and sclerocornea, are also discussed. The data show that mental retardation can frequently have a genetic cause, either of mendelian, chromosomal or multifactorial origin.     

Microfilariae in fine needle aspirates from epididymal lesions

Microfilariae of Wuchereria bancrofti were observed in fine needle aspiration smears from three epididymal nodules, and degenerating microfilariae suggestive of Brugia malayi were found in the smears from a fourth case. The smears in all four cases showed a polymorphonuclear inflammatory cell component as well as epithelioid cell granulomata. While blood eosinophilia was present in all four cases, eosinophilia was present in the aspiration smears in only one case. Microfilariae could be demonstrated in the peripheral blood in only one case.     

Fine needle aspiration cytology of follicular variant of papillary carcinoma of thyroid

In this retrospective study, we tried to ascertain the fine needle aspiration cytology (FNAC) features of six histopathologically proven cases of the follicular variant of papillary carcinoma of thyroid (FVPCT). These proven cases were diagnosed from 1998-2000. May-Grunwald-Giemsa and haematoxylin & eosin stained FNAC smears were studied independently by two observers (MP and PD) for detailed cytological features. A comparison of the cytological features was undertaken with those reported in the literature. There were six cases of which only one case was diagnosed as FVPCT while the other five cases were diagnosed as follicular neoplasm (four cases) and neoplasm unclassifiable (one case) on FNAC smears. All these cases showed abundant cellularity with a prominent follicular pattern. No papillae were identified in any of the cases. Syncytial clusters (five cases), nuclear grooves (six cases), nuclear inclusions (one case) and chewing gum colloid (three cases) were noted in variable proportions. We suggest that a differential diagnosis of FVPCT should be considered if the cytology smears show abundant cellularity, syncytial clusters and follicular arrangement along with thick colloid.     

Structural abnormalities of the Y chromosome. Observations in ten cases]

The authors report ten cases of structural anomalies involving the Y chromosome: five cases of a dicentric Y chromosome, one ring Y chromosome, one case of a Y isochromosome containing the long arms, one deletion of the long arms (Yq-), one case of an abnormally long Y chromosome (Yq+) and one Y-autosome translocation. Analysis of clinical and chromosomal correlations, especially with respect to sexual differentiation, led to discussing the role of the Y chromosome.     

Cytomorphology of filariasis revisited. Expansion of the morphologic spectrum and coexistence with other lesions

OBJECTIVE: To review the cytomorphologic spectrum of the filarial worm and associated tissue response in 33 cases. STUDY DESIGN: Retrospective analysis was carried out in clinically unsuspected cases of filariasis diagnosed on cytology over a period of 10 years. Twenty-nine aspirate smears from 28 patients were air dried and stained with May-Grünwald-Giemsa stain. Four routine cervical smears and one centrifuged smear of urine were stained with Papanicolaou stain. RESULTS: Microfilariae alone and along with adult gravid females were present in 25 and 4 cases, respectively. In one case both adult male and female worms with microfilariae and eggs were seen. The diagnosis was based on the presence of eggs alone in one case and fragments of female worms in two. Four of these cases were neoplastic lesions, and microfilariae were found incidentally. In one case of splenomegaly microfilariae were seen along with Leishman-Donovan bodies. CONCLUSION: Filariasis can be diagnosed on cytology by demonstrating microfilariae, a male or female worm, or eggs alone. It can be seen in association with neoplastic lesions and rarely with other parasitic infections.     

Congenital hemihypertrophy. Tendency to association with other abnormalities and/or tumors

Nine cases of congenital hemihypertrophy of an entire half of the body ("true" hemihypertrophy) were investigated in relation to literature data. The left side was more often affected (7:2) and the abnormality was more frequent in females (5:4). Associated abnormalities were present in all cases: a single abnormality in 3 cases (mental retardation, iris heterochromia and, respectively, left foot gigantism) and 3 to 13 abnormalities in the other 6 cases. Prominent hemiface, asymmetric macroglossia on the affected side, unequally developed breasts, unilateral gigantism of the foot, iris heterochromia, duplication of the renal pelvis, were considered important signs which easily draw attention. Out of nine cases investigated, three presented associated tumors: two tumors, one cerebral (malignant ependymoma) and the other hepatic (cavernous hemangioma) in one case, hepatoblastoma in another case, and multiple skin angiomas in the affected side of the third one. The case presenting two tumors had also the greatest number (twelve) of associated abnormalities.     

Analysis of two 47,XXX males reveals X-Y interchange and maternal or paternal nondisjunction

Summary Two cases of 47,XXX males were studied, one of which has been published previously (Bigozzi et al. 1980). Analysis of X-linked restriction fragment length polymorphisms revealed that in this case, one X chromosome was of paternal and two were of maternal origin, whereas in the other case, two X chromosomes were of paternal and one of maternal origin. Southern blot analysis with Y-specific DNA probes demonstrated the presence of Y short arm sequences in both XXX males. In one case, the results obtained pointed to a paracentric inversion on Yp of the patient's father. In situ hybridization indicated that the Y-specific DNA sequences were localized on Xp22.3 in one of the three X chromosomes in both cases. The presence of Y DNA had no effect on random X inactivation. It is concluded that both XXX males originate from aberrant X-Y interchange during paternal meiosis, with coincident nondisjunction of the X chromosome during maternal meiosis in case 1, and during paternal meiosis II in case 2.     

Kyste de la vésicule séminale associé à une agénésie rénale homolatérale: à propos de trois observations

The combination of seminal vesicle cyst and homolateral renal agenesis is a rare congenital anomaly. However, this anomaly is diagnosed more frequently due to progress in medical imaging. The authors report three cases of seminal vesicle cyst associated with ipsilateral renal agenesis in two cases and ectopic ureter in one case. All cases presented nonspecific clinical symptoms. The diagnosis was suspected on imaging (ultrasound and computed tomography). Treatment was surgical in two cases and endoscopie in one case. The authors review the literature on the aetiology and pathogenesis of seminal vesicle cyst, its association with homolateral renal agenesis and diagnostic and therapeutic methods.     

Correlations between karyotype and phenotype in structural and numerical abnormalities of chromosome 18]

Five cases with different abnormalities of chromosome 18 are described: one case with trisomy 18, two cases with ring 18, one case with partial trisomy 18q and one case with a mosaic 18p-/iso 18q. The karyotypes of the parents were normal. Cytogenetic analysis was performed on PHA stimulated blood lymphocytes. GTG, QFQ, MTX banding techniques were used. Karyotype-phenotype correlations are made. All patients present mental retardation, hypotonia and facial dismorphisms. The different degree of mental retardation and the clinical signs are in relation to the different size of deletions or trisomies of the short or long arm of chromosome 18. In the case with mosaicism 18p-/iso18q the phenotype is determined from the chromosomal abnormality more frequent in the cells (18p-).     

西藏拉萨地区藏族儿童血红蛋白类型和一例血红蛋白E的化学结构分析

本文报道480例西藏拉萨地区藏族儿童的血红蛋白类型,除发现一例慢速β链Hb变异体之外,其余均无异常。对该异常者Hb的化学结构进行分析,确证为HbE[β~(26(B8))Glu→Lys]。此为我国藏族人群中首次发现。     

Dicentric Robertsonian translocations in man

Summary The authors studies 17 cases of Robertsonian translocations. In all cases but one C banding showed that a dicentric translocation was involved. Silver staining demonstrated the presence of an NOR between the two centromeres in only one case.     

The geometry of natural selection in cave and spring populations of the amphipod Gammarus minus Say (Crustacea: Amphipoda)

The shape of the fitness function was investigated in a spring population (Davis Spring) and a cave population (Organ Cave) of the amphipod Gammarus minus in southern West Virginia. The first three principal components of a series of size, antennal and eye measurements and two fitness components (amplexus and number of eggs) were investigated. Smoothing splines using generalized cross-validation scores were found as were least-squares quadratic regression equations. Confidence intervals on shape, as determined by a smoothing parameter, were calculated using a bootstrap approach. Out of 18 cases, there were six cases of no selection, six cases of directional (monotonic) selection, one case of stabilizing selection, one case of disruptive selection, and four cases of selection with multiple internal maxima and minima. Selection on the cave population was frequently directional (5), resulting from strong directional selection for increased size, larger antennae, and smaller eyes. Selection on the spring population, the ancestral habitat for the species, was frequently non-monotonic (five cases) and rarely directional (one case). In both populations, stabilizing selection was rare and no more common than disruptive selection.     

Acute Brucellosis Treated with Trimethoprim and Sulphamethoxazole

Four patients with acute brucellosis are described, none of whom had any connexion with farming or milk industry, the source of infection being different in each case. The diagnosis was made by serological tests, and in three of the four cases was confirmed by positive cultures from bone marrow (one case) and liver biopsy (two cases). Treatment with the combination of trimethoprim/sulphamethoxazole was successful in three out of four cases, and in the fourth case failure may have been due to the development of trimethoprim resistance.