Rate of chromosomal aberrations in prenatally detected hydrops fetalis and hygroma colli

Summary Chromosome analyses were carried out in a series of 775 fetuses with morphological abnormalities diagnosed by ultrasound. Among these cases, 57 demonstrated non-immune hydrops fetalis with hygroma colli (group 1) and a further 116 non-immune hydrops fetalis without hygroma colli (group 2). Different chromosome abnormalities were found in 54.5% of cases of group 1 where chromosome analyses could be performed, and in 27.6% of cases of group 2. The most common aberrations were monosomy X and trisomy 21.     

Morphological study of the removed fetus after therapeutic abortion for echographic anomalies (apropos of 42 cases)

In 42 cases, fetal abnormalities were diagnosed by obstetric ultrasonography and the pregnancy was terminated. The malformations included: anencephaly (22), severe hydrocephaly (4, one with a spina bifida), encephalocele and meningocele (2) amniotic band syndrome (4; a correct prenatal diagnosis was performed during the second trimester in two cases), major anterior abdominal wall defects (2), Pena-Shokeir syndrome type I? (I), severe renal abnormalities (2), conjoined twins, dicephalus type (2), cystic hygroma and hydrops fetalis (2), osteogenesis imperfecta, type II (I). Thus, there were 23 fetuses with a polygenetically determined status; five fetuses could be affected by an autosomal recessive disorder.     

The lethal multiple pterygium syndrome: a nosological approach

The Lethal Multiple Pterygium Syndrome (LMPS) is characterised by lethality, multiple pterygia and frequently hydrops and/or hygroma colli. In this paper, we review 36 published cases, discuss the clinical features, pathogenesis, differential diagnosis and mode(s) of inheritance. Most cases were diagnosed in the second trimester of pregnancy by hydrops/hygroma colli at ultrasonography and/or stillbirth. Pterygia were present in two or more body areas overlying predominantly the large joints; joint contractures always accompany the pterygia. Facial features are: hypertelorism, antimongolo?d slanting of the palpebral fissures, flattened nasal bridge with hyproplastic nasal alae, micrognathia and cleft palate. Lung hypoplasia is the rule. Except for hypoplastic bones there were no consistent radiological findings. Cerebral abnormalities were occasionally found; muscular atrophy was mentioned in a number of cases. Chromosome abnormalities were never reported. Based on clinical presentation we propose an "early type" of LMPS and a "late type" of LMPS. Besides, we consider the cases described by Herva as a separate "Finnish type" LMPS. We found an excess of male cases, especially in young fetuses. LMPS is known as an autosomal recessive inherited trait. X-linked recessive inheritance however cannot be excluded in an isolated male case or in a sibship with males only. The Finnish type of LMPS appears to be an autosomal recessive trait.     

Cystic hygroma and multiple pterygium syndrome

We report the prenatal detection of a cystic hygroma in a 17 weeks gestation male foetus with multiple pterygium syndrome. Ultrasonographic study was performed in this pregnancy after the birth of a macerated, hydropic male foetus with large cystic nuchal hygroma in a previous pregnancy.     

Evaluation of routine prenatal ultrasound examination in detecting fetal chromosomal abnormalities in a low risk population

Prenatal diagnosis performed by fetal ultrasound scan is now a routine part of antenatal care in many countries. We have used our registry of congenital malformations to determine how many fetal anomalies and consequently how many chromosomal abnormalities are detected by this procedure. In our region, evaluation of prenatal diagnosis of chromosomal abnormalities in women of 38 years and younger (chromosomal prenatal diagnosis is offered to women 38 years) with no personal or familial history of chromosomal anomaly was performed in 119 099 consecutive pregnancies of known outcome from 1980 to 1987. At least one ultrasonographic examination seeking congenital malformations was performed in more than 95% of the pregnant women studied. The total number of chromosomal anomalies during the study period was 199, 123 of these being Down syndrome. Only 41 (34.5%) of the 119 fetuses with chromosomal abnormalities and congenital malformation examined had been found to have a malformation at ultrasound examination. This low sensitivity was different for the diverse chromosomal abnormalities. Only 10 out of the 54 fetuses with Down syndrome and malformations (18.5%) were detected and only 3 out of 24 (12.5%) atrioventricular canal defects in those trisomie 21 patients were detected. Only 5 out of 11 (45.4%) fetuses with trisomy 13, 13 out of 26 (50.0%) fetuses with trisomy 18, 7 out of 12 patients with monosomy X (58.3%) and 6 out of 27 (22.2%) fetuses with other chromosomal abnormalities were diagnosed. Moreover, the time of detection of these anomalies was early enough to allow amniocentesis and termination of pregnancy in the case of a chromosomal abnormality in only 15 out of these 41 patients, including 7 cases of cystic hygroma in fetuses with monosomy X. This low sensitivity is not the result of the quality of the ultrasound equipment. It may be explained by the inadequate qualification of some operators and by the insufficient duration of the routine examination. In conclusion, our study has shown that the sensitivity of the detection of chromosomal abnormalities by routine prenatal ultrasound screening is low. Other screening methods are needed.     

The value of ultrasonography alone in screening surveys of cystic echinococcosis in children in Turkey

A total of 1205 primary school children were examined for cystic echinococcosis in five villages of Manisa, Turkey, to evaluate the efficacy of diagnostic methods of this infection in community-based screening surveys. Six hundred and thirty children from three villages, examined by a portable ultrasound scanner, chest microfilm and serological methods (ELISA, indirect hemagglutination) in our previous study, were designated as Study Group 1; and 575 children, from two adjacent villages, examined by ultrasonography alone in the present study, were designated as Study Group 2. In Study Group 1, hepatic cystic echinococcosis was detected in two cases (0.3%) by ultrasonography, while 43 (8.9%) and 49 (10.1%) cases were found to be positive for cystic echinococcosis by ELISA and indirect hemagglutination, respectively. Three of 575 children (0.5%) were diagnosed with cystic echinococcosis (two hepatic and one renal involvement) by ultrasonography alone in Study Group 2; and lung lesions were later detected in both cases with liver involvement by chest radiography.

Our results suggested that serological tests may be beneficial in suspected cases for confirmation and differential diagnosis, but have some drawbacks, such as discrepancy in results and high false seropositivity rates. Chest microfilm is not easy in field studies and exposure to X-ray is undesirable. As a reliable, simple, inexpensive and rapid technique, ultrasonography alone is recommended to be used in community-based screening surveys for cystic echinococcosis with confirmatory tests for suspected cases found during the screening program.     

超声引导下经皮经肝胆囊置管治疗老年化脓性胆囊炎伴胆囊积液

目的:探讨超声引导下经皮经肝胆囊置管引流治疗化脓性胆囊炎伴胆囊积液的应用价值。方法:老年患者不能耐受手术或不愿手术治疗,胆囊颈部结石嵌顿引起的化脓性胆囊炎伴胆囊积液患者86例,在超声引导下,8F猪尾巴导管经皮经肝进行胆囊穿刺置管治疗。治疗后用超声进行随访观察,结合临床症状判断疗效。结果:在超声引导下,86例化脓性胆囊炎伴胆囊积液患者均成功进行胆囊穿刺置管引流冲洗治疗,患者症状明显改善,经治疗临床症状消失后出院,择期拔管。结论:超声引导下经皮经肝胆囊置管微创治疗是不能手术或不愿接受手术的化脓性胆囊炎伴胆囊积液患者的一种有效治疗方法。     

Prenatal diagnosis of a true fetal tetraploidy in direct and cultured chorionic villi

Prenatal diagnosis of a true fetal tetraploidy in direct and cultured chorionic villi: Tetraploidy is characterized by four complete sets of chromosomes (4n= 92). Although it has been frequently reported in spontaneous abortions, tetraploidy is extremely rare in term pregnancy. Most of late surviving patients are diploid/tetraploid mosaics and present severe mental and physical impairment. Up to date, only five tetraploidies were ascertained in the prenatal stage in amniocytes and/or fetal blood lymphocytes. No one has been reported in chorionic villi probably because tetraploidy is generally considered in this tissue as a false positive result due to confined placental mosaicism (CPM) or placental culture artefacts. We report here on a case of tetraploidy detected in chorionic villi because of fetal cystic hygroma. We discuss the reliability of this diagnosis and propose guidelines in the follow-up of tetraploidies detected after chorionic villus sampling (CVS). Thus a misdiagnosis of this poor condition will be avoided at best and an appropriate genetic counseling will be given to the parents.     

Immune Complexes in Cystic Fibrosis

Circulating immune complexes were detected in serum and sputum of patients with cystic fibrosis (C.F.). There were extensive deposits of immunoglobulins and complement immune complexes in several of the C.F. organs, especially the respiratory and gastrointestinal tracts, but not in the kidneys. Significant concentrations of IgG and of complement complexes could be eluted from the lungs of the C.F. patients but not from those of controls. Studies involving immunoabsorption, autoradiography, and molecular sieving through Sephadex G-200 columns identified both bovine serum albumin and staphylococcal α-haemolysin as two of the antigens present in the immune complexes. The sedimentation constant of the immune complexes was about 8S to 11S. The clinical significance of these immune complexes and the wide variety of antibodies detected in C.F. patients are discussed.     

超声引导下经皮经肝胆囊置管治疗老年化脓性胆囊炎伴胆囊积液的应用价值

目的：探讨超声引导下经皮经肝胆囊置管引流治疗化脓性胆囊炎伴胆囊积液的应用价值。方法：老年患者不能耐受手术或不愿手术治疗,胆囊颈部结石嵌顿引起的化脓性胆囊炎伴胆囊积液患者86例,在超声引导下,8F猪尾巴导管经皮经肝进行胆囊穿刺置管治疗。治疗后用超声进行随访观察,结合临床症状判断疗效。结果：在超声引导下,86例化脓性胆囊炎伴胆囊积液患者均成功进行胆囊穿刺置管引流冲洗治疗,患者症状明显改善,经治疗临床症状消失后出院,择期拔管。结论：超声引导下经皮经肝胆囊置管微创治疗是不能手术或不愿接受手术的化脓性胆囊炎伴胆囊积液患者的一种有效治疗方法。     

Fine needle aspiration cytology in ovarian lesions: an institutional experience of 584 cases

N. Gupta, A. Rajwanshi, L. K. Dhaliwal, N. Khandelwal, P. Dey, R. Srinivasan and R. Nijhawan
Fine needle aspiration cytology in ovarian lesions: an institutional experience of 584 cases Objective: To assess the diagnostic value of fine needle aspiration cytology (FNAC) in ovarian lesions. Methods: This was a retrospective study of ultrasound‐guided (US) FNAC of 584 ovarian lesions from January 1998 to July 2010. The lesions were categorized into non‐neoplastic lesions, neoplastic lesions and inadequate aspirates. The results were compared with the corresponding histopathology whenever available. Results: Of the 584 lesions, 180 (30.8%) were reported as non‐neoplastic (48 non‐specific inflammation, 11 tuberculosis, 63 functional cysts and 58 endometriotic cysts), 249 (42.6%) as neoplastic (81 benign lesions/tumours and 168 malignant) and 155 (26.5%) as inadequate. Based on the subsequent histopathology, which was available in 121 (20.7%), the cases were divided into those that were concordant and discordant. Concordant cases comprised 92/121 (76%), including 28 non‐neoplastic lesions (seven non‐specific inflammation, nine functional cysts and 12 endometriotic cysts), 42 surface epithelial tumours (13 benign and 29 malignant), 10 germ cell tumours (five mature cystic teratomas and five mixed germ cell tumours), seven sex‐cord stromal tumours (three granulosa cell tumours, one sclerosing stromal tumour, one strümal leutoma, one Sertoli Leydig cell tumour and one malignant Sertoli cell tumour) and five miscellaneous lesions (one plasma cell tumour, two leiomyosarcomas and two cases of necrosis). Discordant cases comprised 29/121 (24%) (21were inconclusive or inadequate on cytology), including four endometriotic cysts, 14 surface epithelial tumours (one cystadenofibroma, one borderline mucinous tumour and 12 carcinomas), five germ cell tumours (two immature teratomas and three mature cystic teratomas), two thecomas, one fibroma, one sclerosing stromal tumour, one fibrosarcoma and one myxoma. FNAC sensitivity for a diagnosis of malignancy was 85.7%, specificity 98.0%, positive predictive value 97.7%, negative predictive value 87.7% and accuracy 92.0%, if 21 inconclusive/inadequate FNACs were excluded; with the latter taken as false negatives, sensitivity was 73.7% and accuracy 76.0%. Conclusion: FNAC has a high specificity for diagnosis of ovarian/adnexal lesions but greater experience is required for the accurate subtyping of neoplasms and sensitivity is limited by inconclusive/inadequate results.     

The significance of ultrasonography in diagnosing and follow-up of cystic cystitis in children

Cystic cystitis is a separate form of urinary bladder inflammation, detected by cystoscopy in children with recurrent urinary infections. Cystoscopy is an invasive method, so the aim of this investigation was to determine the ultrasonographic characteristics of cystic cystitis and to assess the reliability of ultrasound in relation to cystoscopy in diagnosing cystic cystitis. The study included 115 girls with repeated urinary infections. Cystoscopy and ultrasonography was performed in all. According to the cystoscopic finding the subjects were divided into 4 groups. Lateral and posterior urinary bladder wall thickness was measured during ultrasonography. A statistically significant difference was found between all 4 groups, the method demonstrated a high degree of sensitivity (0.97) and specificity (0.91). Percentile calculations were determined for wall thickness. Ultrasonography can replace endoscopy in diagnosis and follow-up of cystic cystitis in children, with at least 50% fullness of the urinary bladder as a prerequisite.     

Interleukin‐17 family cytokines in protective immunity against infections: role of hematopoietic cell‐derived and non‐hematopoietic cell‐derived interleukin‐17s

Interleukin‐17 family cytokines, consisting of six members, participate in immune response in infections and autoimmune and inflammatory diseases. The prototype cytokine of the family, IL‐17A, was originally identified from CD4+ T cells which are now termed Th17 cells. Later, IL‐17A‐producing cells were expanded to include various hematopoietic cells, namely CD8+ T cells (Tc17), invariant NKT cells, γδ T cells, non‐T non‐B lymphocytes (termed type 3 innate lymphoid cells) and neutrophils. Some IL‐17 family cytokines other than IL‐17A are also expressed by CD4+ T cells: IL‐17E by Th2 cells and IL‐17F by Th17 cells. IL‐17A and IL‐17F induce expression of pro‐inflammatory cytokines to induce inflammation and anti‐microbial peptides to kill pathogens, whereas IL‐17E induces allergic inflammation. However, the functions of other IL‐17 family cytokines have been unclear. Recent studies have shown that IL‐17B and IL‐17C are expressed by epithelial rather than hematopoietic cells. Interestingly, expression of IL‐17E and IL‐17F by epithelial cells has also been reported and epithelial cell‐derived IL‐17 family cytokines shown to play important roles in immune responses to infections at epithelial sites. In this review, we summarize current information on hematopoietic cell‐derived IL‐17A and non‐hematopoietic cell‐derived IL‐17B, IL‐17C, IL‐17D, IL‐17E and IL‐17F in infections and propose functional differences between these two categories of IL‐17 family cytokines.     

Evidence for a role of intrauterine infections in the pathogenesis of cystic ovaries in postpartum dairy cows

Patterns of uterine microbial recovery and serum concentrations of prostaglandin F(2alpha) metabolite (PGFM), cortisol, luteinizing hormone (LH) and progesterone (P4) were determined in normal postpartum dairy cows (n = 12) and in postpartum cows that developed cystic ovaries (n = 12). Palpation per rectum, ultrasound examinations of the reproductive tract and endometrial swab harvest were carried out once every 4 d during the first month postpartum. Daily blood samples were collected during the first 30 d postpartum and every other day until Day 60 postpartum for hormone assay. Bacterial growth densities of cultures of uterine swabs were high in cows that developed cystic ovaries. Cysts were detected between Day 8 and 16 postpartum and persisted for a period of 18.6 +/- 9.9 d (range 8 to 41 d), followed by spontaneous regression and ovulations. Serum PGFM and cortisol were elevated for several days prior to detection of cystic ovaries but not prior to first postpartum ovulations. Serum LH concentrations in cystic cows were at basal concentrations prior to discovery of cysts. The results suggest that postpartum intrauterine infections may provoke increased secretion of prostaglandin F(2alpha) and cortisol associated with the formation of cystic ovaries in dairy cows.     

Cystic hygroma colli as the first echographic sign of the fetal akinesia sequence

We report first trimester cystic hygroma colli with subsequent resolution and development of a fetal akinesia deformation sequence. Neuropathological examination of the brain showed intra- and extracellular white matter edema while spinal cord, peripheral nerves and muscles were normal. Hygroma colli as the first echographic sign of subsequent severe fetal akinesia sequence without muscular dystrophy as seen in the Lethal Multiple Pterygium syndrome has not been previously reported.     

Effect of ultrasound transmission gel on ultrasound‐guided fine needle aspiration cytological specimens of thyroid

A. Lalzad, D. Ristitsch, W. Downey, A. F. Little and M. E. Schneider‐Kolsky
Effect of ultrasound transmission gel on ultrasound‐guided fine needle aspiration cytological specimens of thyroid Objective: To investigate prospectively the diagnostic impact of ultrasound coupling gel on thyroid specimens obtained under ultrasound guidance. Methods: Patients presenting for ultrasound‐guided fine needle aspiration (USG‐FNA) of the thyroid were invited to participate in the study. Four specimens per nodule were collected: two using chlorhexdine wash and two using sterile, colourless ultrasound gel as couplant according to routine protocol. All slides were analysed in a blinded fashion by two senior cytologists for the presence or absence of ultrasound gel‐induced artefacts. The presence of gel‐induced artefacts between the two groups was analyzed using Pearson’s chi‐square test. Kappa statistics were used to measure the inter‐rater agreement between the cytologists. Results: Twenty thyroid nodules comprising 80 specimen slides were collected. On slides collected with gel, cytological artefacts were detected in 60–65% of cases compared with 10–15% of cases without gel (P < 0.001). The inter‐rater agreement between the two observers was very good (κ = 0.84). Two of the 14 patients required repeat FNA due to non‐diagnostic cytology results caused by inadequate sampling and gel‐induced artefacts. Conclusions: Clinical cytopathologists, radiologists and sonographers should be aware of the potential for ultrasound gel to cause significant artefacts on cytological specimens. Our findings suggest that staff involved in USG‐FNA cytology should remove the gel carefully before taking the aspirate.     

B超在肝囊型包虫病诊断中的临床价值与意义

目的：评价B超在肝囊型包虫病诊断中的价值与临床意义。方法：回顾性分析我院2000年12月至2011年12月收治的接受B超检查和手术治疗的332肝囊型包虫病例的临床资料。结果：332例肝囊型包虫病患者中,303例经过手术证实;肝囊型包虫病的B超分型可分为单发单囊型、多发单囊型、多子囊型、破裂感染型和坏死钙化型。单发单囊型患者以低年龄组多发,而高年龄组较少;破裂感染型以高年龄组多发;坏死钙化型病人共3例年龄均在60岁以上;破裂感染型占各型中病例数最多。结论：B型超声检查是肝囊型包虫病的主要检查方法,可确定包虫病的分型,了解包虫囊肿的部位、数目、大小和结构,为术前诊断、手术定位、观察治疗效果提供参考依据。     

Migration of gall stones.

The factors influencing the migration of gall stones are ill understood. Altogether 331 patients undergoing cholecystectomy were studied prospectively. The diameters of the cystic and common bile ducts and of stones in the gall bladder and bile ducts were measured. Increasing pressure was applied to the freshly excised gall bladder in an attempt to evacuate stones through the cystic duct. Stones passed in 33 (60.0%) of patients with choledocholithiasis, 45 (67.2%) of patients with pancreatitis, and 7 (3.2%) of patients without either pancreatitis or choledocholithiasis. Stones migrated in 6 (3.0%) who had a normal cystic duct diameter (less than or equal to 4 mm) and in 46 (32.5%) with a duct over 4 mm diameter. Common bile duct stones were often larger than the diameter of the cystic duct and when reintroduced into the gall bladder would not migrate. The passage of debris (less than or equal to 1 mm) through the cystic duct bore no relation to the presence or absence of choledocholithiasis or a dilated cystic duct. Small stones (1-4 mm diameter) must migrate to initiate and facilitate further migration; some must increase in size in the common bile duct. Increased biliary pressure consequently dilates the duct system retrogradely, allowing larger stones to follow. Patients at risk of stone migration and thereby pancreatitis and jaundice have large ducts that can be detected by ultrasound assessment.     

Active cascade testing for carriers of cystic fibrosis gene.

OBJECTIVE--To examine the acceptability, practicability, efficiency, and application of active screening for carriers of the cystic fibrosis gene in the extended families of those in whom the disease is present (Cascade screening). DESIGN--Paediatricians and physicians provide details of their affected patients, pedigrees are drawn up, and relatives offered tests after initial contact by the affected nuclear families. Affected patients are genotyped in a laboratory with a special interest in the genetics of cystic fibrosis. SETTING--North Western health region. SUBJECTS--Relatives and partners of 607 people with cystic fibrosis. INTERVENTIONS--Genetic counselling by letter for people found to be carriers; formal genetic counselling and when indicated arrangements for prenatal diagnosis for couples discovered to be carriers. MAIN OUTCOME MEASURES--Number of carrier couples detected; action in pregnancy of detected carrier couples; extent of the uptake of screening by relatives. RESULTS--Of 1563 relatives or partners tested, 15 carrier couples were detected; of nine pregnancies undertaken by these 15, eight had prenatal tests and three terminated pregnancies. An average of 16 people per family have come forward for testing so far. CONCLUSIONS--Cascade screening for carriers of cystic fibrosis is well accepted by relatives, especially on the mother''s side of the family; it is 10 times more efficient in detecting carrier couples than unfocused screening. Detected carrier couples make practical use of the information in pregnancy. Active cascade screening for carriers is effective in cystic fibrosis and widespread application is recommended. These principles could be applied to other recessive disorders.     

Evaluation of the pulmonary and systemic immunogenicity of Fluidosomes, a fluid liposomal-tobramycin formulation for the treatment of chronic infections in lungs.

In previous studies, we have developed a fluid bactericidal liposomal formulation containing tobramycin, called Fluidosomes, which has been shown to be highly bactericidal both in in vitro and in in vivo studies against Pseudomonas aeruginosa and other related and unrelated bacteria. One foreseeable application of these Fluidosomes is the treatment of chronic pulmonary infections in cystic fibrosis patients colonized with P. aeruginosa and other related bacteria. Considering the capacity of some liposomal preparations to play an adjuvant role in vaccines, the non-immunogenicity of Fluidosomes has to be demonstrated. The systemic and local immunogenicity of Fluidosomes were assessed by effectuating repeated intraperitoneal (i.p.) and intratracheal (i.t. ) immunizations in BALB/c mouse. No significant mucosal and serum immune responses against Fluidosomes and/or tobramycin were detected as compared with preimmune sera. These data suggest that Fluidosomes could be administered repeatedly without adverse immune responses to control chronic pulmonary infections in cystic fibrosis.