Cytogenetical prenatal diagnosis by amniocentesis during the II and III gestation trimesters in Costa Rica

The identification of fetal abnormal chromosomes in high risk pregnancies allows proper pediatric and obstetric management of the cases as well as genetic counseling. The results of 842 genetic amniocentesis from 1986 to 1999 are reported. All procedures were performed transabdominally and under ultrasound guidance, in hospitals of the social security system and in private facilities. There were two main reasons for referral: abnormal ultrasound assessment (48% of cases) and advanced maternal age (35%). Most procedures (66%) were performed during the second trimester of pregnancy and 34% during the third trimester. Fetal cells were closed cultured and suspension harvested. Median turn around time was 14 days. In 217 amniotic fluid samples no diagnosis could be obtained, mainly due to absence of cell growth in late gestation samples or because of blood contamination. Of 625 fetal karyotypes 55 (9%) were abnormal, due to 33 trisomies (including a Robertsonian translocation trisomy 13), eight cases of monosomy X, three mosaics (including a mosaic trisomy 22), balanced and unbalanced translocations, extra structurally abnormal chromosomes and other defects. Pseudomosaicism was detected in five cases. Taking into account the reason for referral, cases studied as a result of abnormal ultrasound assessment exhibited 17% abnormal karyotypes, in contrast to 2.5% cytogenetic defects in pregnancies of women 35 years or older. Prenatal cytogenetic and sonographic findings correlated with the phenotype of the newborn in 211 cases available for follow-up. Prenatal diagnosis of fetal defects allowed genetic counseling as well as better obstetric management and pediatric care. Normal results of both tests provided reassurance to prospective parents.     

Fine Needle Aspiration Cytology of Cutaneous Vascular Tumours

We have studied 12 cutaneous vascular tumours by means of fine-needle aspiration cytology (FNAC): six capillary haemangiomas, one cavernous haemangioma, one Masson's pseudo-angiosarcoma, two angiosarcomas, one benign haemangioendothelioma and one glomus tumour. We describe the main cytopathological findings and we discuss the differential diagnosis in each case. We consider that the cytopathological findings of the above lesions, evaluated in the context of the clinical findings, are sufficiently characteristic for us to be able to make a definitive diagnosis. We believe that FNAC can play an important part in the diagnosis and therapeutic planning of these tumours.     

Prenatal diagnosis--principles of diagnostic procedures and genetic counseling

The frequency of inherited malformations as well as genetic disorders in newborns account for around 3-5%. These frequency is much higher in early stages of pregnancy, because serious malformations and genetic disorders usually lead to spontaneous abortion. Prenatal diagnosis allowed identification of malformations and/or some genetic syndromes in fetuses during the first trimester of pregnancy. Thereafter, taking into account the severity of the disorders the decision should be taken in regard of subsequent course of the pregnancy taking into account a possibilities of treatment, parent's acceptation of a handicapped child but also, in some cases the possibility of termination of the pregnancy. In prenatal testing, both screening and diagnostic procedures are included. Screening procedures such as first and second trimester biochemical and/or ultrasound screening, first trimester combined ultrasound/biochemical screening and integrated screening should be widely offered to pregnant women. However, interpretation of screening results requires awareness of both sensitivity and predictive value of these procedures. In prenatal diagnosis ultrasound/MRI searching as well as genetic procedures are offered to pregnant women. A variety of approaches for genetic prenatal analyses are now available, including preimplantation diagnosis, chorion villi sampling, amniocentesis, fetal blood sampling as well as promising experimental procedures (e.g. fetal cell and DNA isolation from maternal blood). An incredible progress in genetic methods opened new possibilities for valuable genetic diagnosis. Although karyotyping is widely accepted as golden standard, the discussion is ongoing throughout Europe concerning shifting to new genetic techniques which allow obtaining rapid results in prenatal diagnosis of aneuploidy (e.g. RAPID-FISH, MLPA, quantitative PCR).     

磁共振成像对乳腺肿瘤的诊断价值

乳腺癌是危及女性健康的常见恶性肿瘤之一,病死率较高,且发病年龄呈年轻化趋势。目前临床对乳腺疾病的检查方法很多,既往检查主要包括钼靶、超声等,因价格便宜、操作方便,已成为常规的乳腺疾病检查方法,但两者的敏感性和特异性较低并有自身的局限性。CT软组织分辨率较高,但检查过程中的X线剂量较大,并且动态增强时间较长,故作为乳腺钼靶的补充检查手段。这些检查方法对乳腺疾病均有不同的诊断意义,在当前众多诊断乳腺疾病方法中,具有无辐射,较高软组织分辨力及可多方位多层面成像的乳腺磁共振(MRI)成像有其独到的优势,某些方面能弥补超声和钼靶检查的局限性,乳腺磁共振可提供病灶形态学和增强血流动力学表现,可用于常规检查方法不能确诊病灶的鉴别诊断。乳腺肿瘤MRI成像对临床诊断、鉴别诊断及手术方案的选择有着极其重要的作用。本文就乳腺MRI影像技术、MRI影像学表现及其临床应用予以综述,探讨MRI在乳腺肿瘤中的应用。     

Medical Grand Rounds: refractory hypertension and renal insufficiency in a patient with renal artery stenosis.

Renal artery stenosis has become increasingly common as a cause of refractory hypertension and renal insufficiency. There is a high prevalence of bilateral disease and the lesions tend to progress over time. Newer, less invasive, imaging modalities such as doppler ultrasound, magnetic resonance angiography, and spiral CT scanning are evolving technologies in the diagnosis of renal artery stenosis. Advances in surgical technique, particularly the development of extra-anatomical procedures such as spleno-renal and hepato-renal by pass, have significantly lowered surgical morbidity and mortality and provides revascularization options for patients with complex vascular disease that would previously not have been considered because of their high surgical risk. Improvements in angioplasty technique and the use of stents are broadening the types of lesions that can be successfully approached with these techniques and may be particularly helpful for patients with more severe cardiac or cerebrovascular disease. The benefits of revascularization may be even greater for preservation of renal function than for control of blood pressure in properly selected patients. It is difficult to predict which patients will benefit from surgical revascularization versus medical management of RAS. Knowledge of the progressive nature of RAS, the high prevalence of bilateral disease, and the clinical characteristics that correlate with progression (e.g., decreasing renal size) are helpful in guiding clinical decisions regarding intervention. Additional studies to determine the predictive value of non-invasive tests such as CRS, doppler ultrasound before and after administration of angiotensin converting enzyme inhibitors, and other tests, are needed to assist the clinician in identifying who will benefit most from revascularization both in terms of renal function and blood pressure control.     

Grey-Scale Ultrasound in the Imaging of Urinary Tract Disease

Grey-scale ultrasound defines smaller renal lesions that had previously been appreciated and is able to define associated lesions of the liver such as metastases and cysts. The appropriate technique to delineate the normal anatomy of the kidney is described. Ultrasound plays a central role in the identification and characterization of renal mass lesions thus leading to appropriate further work up. In renal transplant evaluation ultrasound is useful as a complementary modality to other imaging studies permitting the recognition of pelvic fluid collections, rejection, and hydronephrosis. Specific findings are present in renal abscess, perirenal abscess, and in several of the renal cystic diseases. Adrenal lesions can be identified and clarified. In the lower urinary tract, ultrasound can identify bladder and prostatic tumors.Ultrasound provides a rapid, safe and non-invasive modality which is complementary to other imaging techniques in the diagnosis of urinary tract disease.     

A short rib polydactyly syndrome overlapping both lethal and nonlethal types

Short rib polydactyly syndrome (SRPS) type II is a rare, autosomal recessively inherited, lethal skeletal dysplasia characterized by polydactyly, short limbs, short and horizontal ribs, a short ovoid tibia and major organ anomalies. We report a patient with a fetus with SRPS type II that presented at the 19th week of pregnancy for amniocentesis because of maternal age. During ultrasound pre-axial synpolydacytly, a short and ovoid tibia, nuchal edema, vertebral irregularities, hypoplastic thorax with short ribs and talipes were detected. All of the extremities were under the 5th percentile. Thorax-abdomen ratio was 0,56. The family was counselled for a diagnosis of lethal SRPS. After termination of pregnancy, radiological and histopathological examination allowed us to reach the diagnosis ofMajewski syndrome (SRPS type II). SRPSs are a continuous spectrum of both lethal and nonlethal forms. Prenatal diagnosis and termination depending on ultrasound findings should be done very precociously considering different phenotypic expressions, even in families previously affected by a lethal SRPS.     

Vascular anomalies: hemangiomas

Mulliken and Glowacki categorized vascular anomalies as either hemangiomas or malformations, with the former being the most common tumor of infancy. Despite distinct clinical, radiologic, and histologic findings, the two major types of vascular lesions are often confused. This complicates both patient care and interpretation of the medical literature. A thorough understanding of the presentation, natural history, treatment, and complications of vascular tumors (hemangiomas) and vascular malformations is essential to their proper management. A comprehensive review outlining the diagnosis and treatment of hemangiomas in presented.     

Ultrasound Molecular Imaging with Targeted Microbubbles for Cancer Diagnostics: From Bench to Bedside

Background

Ultrasound plays an important role in cancer diagnosis. B-mode imaging and contrast-enhanced ultrasound are routinely used to detect cancerous lesions in breast and liver. The use of ultrasound contrast agents (UCAs) such as microbubbles (MBs), which can be functionalized with targeting ligands, has further enabled ultrasound molecular imaging (USMI) of specific molecular markers in pre-clinical and the first clinical studies. As targeted MBs have a diameter of 1–4 μm, they are limited to the blood vasculature upon intravenous injection, and can bind to markers of the vascular endothelium. USMI with targeted MBs was applied for imaging of markers of inflammation, angiogenesis, and the tumor endothelium.

超声胃镜小探头对上消化道黏膜下病变的诊断价值探讨

目的:探讨超声胃镜小探头对上消化道黏膜下病变的诊断价值.方法:使用超声胃镜小探头对我院2010年6月-2011年12月62例经电子胃镜检查的上消化道黏膜下病变患者进行检查,对病变的浸润范围与性质进行分析,结果与术后病理进行对比.结果:良性间质瘤43例,占69.35％,恶性间质瘤6例,占9.68％,异位胰腺5例,占8.06％,囊肿6例,占9.68％,脂肪瘤与静脉曲张各1例,占1.61％.所有结果均经病理检查证实,符合率100％,结果具有代表性(P＜0.05).结论:使用超声胃镜小探头能清楚显示上消化道各层管壁结构,确定上消化道黏膜下病变的性质,提高诊断率,具有极高的临床价值,可作为上消化道黏膜下病变的诊断方法在临床推广应用.     

Distinguishing soft-tissue hemangiomas from vascular malformations using technetium-labeled red blood cell scintigraphy.

Soft-tissue vascular lesions in children can be classified as either hemangiomas or vascular malformations. The distinction between the two has important prognostic and therapeutic implications. Over the past 8 years, we have evaluated 64 vascular lesions with the technetium-labeled red blood cell (Tc-RBC) scan. Twenty-eight lesions imaged as hemangiomas with intense focal uniform uptake. This diagnosis was confirmed in 27 lesions, or 96 percent. Thirty-six lesions imaged as vascular malformations with abnormal vessels or diffusely increased activity. This diagnosis was confirmed in 35 lesions, or 97 percent. Overall, the Tc-RBC scan was 97 percent accurate in distinguishing hemangiomas from vascular malformations. It is particularly useful when the clinical diagnosis of the lesion may not be evident. Not only can biopsy be avoided, but parents can be reassured at an earlier age and given accurate information regarding prognosis.     

高频超声联合低频超声检查诊断新生儿颅脑病变的临床价值研究

摘要 目的：探讨高频联合低频超声对新生儿颅脑病变的诊断价值,为新生儿颅脑病变的诊断提供依据。方法：选择2019年1月-2021年4月安徽省儿童医院接诊并疑似出现颅脑病变的新生儿62例作为研究对象,所有研究对象均应用高频超声联合低频超声探头对颅脑进行检查,并住院治疗。比较高频超声、低频超声、高频联合低频超声对新生儿颅脑病变的检出率;根据出院诊断结果比较高频超声、低频超声及联合检查与临床诊断符合情况及对颅脑病变的诊断价值。结果：高频超声检出颅脑病变35例（56.45%）,低频超声检出颅脑病变27例（43.55%）,高频超声联合低频超声检出颅脑病变53例（85.48%）,高频超声联合低频超声对新生儿颅脑病变的检出率显著高于高频超声、低频超声（P<0.05）;高频超声对新生儿颅脑病变的检出率显著高于低频超声（P<0.05）。高频联合低频超声对新生儿颅脑疾病诊断与临床诊断总体符合率高于高频超声、低频超声,高频超声对新生儿颅脑疾病诊断与临床诊断总体符合率高于低频超声（P<0.05）。高频联合低频超声对新生儿不同颅脑疾病诊断灵敏度、准确度显著高于高频超声、低频超声（P<0.05）,高频超声对新生儿不同颅脑疾病诊断灵敏度、准确度显著高于低频超声（P<0.05）,三种检查方法对新生儿不同颅脑疾病诊断特异度比较无统计学意义（P>0.05）。结论：高频联合低频超声检查诊断新生儿不同颅脑病变的灵敏度、准确度均较高,具有一定的临床应用价值。     

Advances in prenatal screening: the ethical dimension

Prenatal screening strategies are undergoing rapid changes owing to the introduction of new testing techniques. The overall tendency is towards broadening the scope of prenatal testing through increasingly sensitive ultrasound scans and genome-wide molecular tests. In addition, non-invasive prenatal diagnosis is likely to be introduced in the near future. These developments raise important ethical questions concerning meaningful reproductive choice, the autonomy rights of future children, equity of access and the proportionality of testing.     

Impact of public health strategies on the birth prevalence of cystic fibrosis in Brittany,France

Taking into account the situation of Brittany, a region of western France where cystic fibrosis (CF) is common and where a neonatal screening program was set up 14 years ago, the aim of this study was to determine the way in which the birth prevalence of CF has been influenced by the various public health strategies implemented in the region (neonatal screening, prenatal diagnosis, ultrasound examination and family testing). This study used the results of the neonatal screening program, which enabled a precise measure of the prevalence of CF at birth to be obtained. Over the same period, we collected data from prenatal diagnoses carried out in the region, first in families related to a CF child and also those made following the detection of an echogenic bowel upon routine ultrasound examination performed during pregnancy. The prevalence of CF at birth was estimated to be 1/2838 in the region over a 10-year period (1992-2001). By including the 54 CF-affected pregnancies that were terminated during these 10 years, the corrected birth prevalence of CF was 1/1972. Prenatal diagnosis was therefore responsible for a global decrease in CF prevalence at birth of 30.5%. This work constitutes the first study able to provide a precise measure of CF birth prevalence and of its evolution through the combined effects of neonatal screening, prenatal diagnosis, ultrasound examination and family testing.     

2型糖尿病患者下肢动脉血管病变的超声诊断分析

目的：分析2型糖尿病患者下肢动脉血管病变超声诊断的意义,为临床超声诊断提供理论依据。方法：选取我院2011年4月--2012年10月收治的100例2型糖尿病患者作为观察组,另选取同期100例健康体检者作为对照组。对比两组下肢动脉彩色多普勒超声检测结果的差异。结果：观察组检出85例斑块、23例狭窄、13例闭塞,对照组分别为21例、12例及0例;观察组下肢动脉管腔斑块、狭窄和闭塞发生率显著高于对照组（P〉O．05）;病程10--15年的患者,其足背动脉管径为（1．25±0．07）mm,显著低于对照组;病程超过25年的患者,全部下肢动脉血管管径均显著低于对照组（P〈O．05）;观察组股前动脉、胫后动脉及足背动脉血流速度明显低于对照组（P〈0．05）,两组人群股总动脉、胭动脉血流速度无明显差异（P〉0．05）。结论：超声可有效反映2型糖尿病患者下肢动脉血管病变情况,且具有无创、可多次检查等优势,费用较低,降低了患者诊疗负担,为血管病变的早期诊断提供了有利条件,也在预防和控制患者糖尿病足等并发症方面起到了重要作用。     

Cytopathologic diagnosis of xanthogranulomatous cholecystitis and coexistent lesions. A prospective study of 31 cases

OBJECTIVE: To evaluate the diagnostic accuracy and reliability of preoperative ultrasound (US)-guided fine needle aspiration cytology (FNAC) in the diagnosis of xanthogranulomatous cholecystitis (XGC) and coexistent lesions (carcinoma) and also to evaluate the possibility ofmissing either carcinoma or XGC on cytology. STUDY DESIGN: The cytologic diagnoses of XGC and coexistent lesions were made according to standard criteria. In a prospective, 5-year study, preoperative US-guided FNAC from 42 cases of XGC was compared with follow-up histologic diagnoses, which were available in 31 cases. When FNAC after the first aspiration showed the aspirate to be nondiagnostic, FNAC was repeated under US guidance. RESULTS: Preoperative US-guided FNAC diagnoses of XGC were made in 31 cases, for which follow-up histology was available in all cases. US-guided FNAC diagnosis ofXGC only was made in 30 cases and coexistent lesions in 1 case. Followup histology revealed 26 cases of XGC, 4 of a coexistent lesion and 1 of squamous cell carcinoma only. The overall diagnostic accuracy of preoperative US-guided FNAC was 96.77%. The overall possibility of missing XGC was 3.33% and that of carcinoma, 12.01%. CONCLUSION: Preoperative US-guided FNAC is safe, rapid, reliable, cost-effective and accurate in diagnosing XGC. However, the possibility ofcoexistent carcinoma cannot be definitely ruled out. It is therefore recommended that FNAC be performed from multiple suspicious sites under radiologic guidance. Thus, preoperative US-guided FNAC diagnosis would help in determining the urgency of treatment and also in planning the surgical procedure for gallbladder lesions.     

Potential diagnostic markers in nodular lesions of the thyroid gland: an immunohistochemical study

Aims: The differential diagnosis of thyroid nodules in routine practice can be problemmatic for both pathologists and clinicians. Effective treatment requires a determination of the biological nature of the lesions. For this reason, ancilliary diagnostic markers along with histological examination of the nodules may be useful. The objective of this study was to evaluate the diagnostic usefulness of novel markers in the diagnosis of hyperplastic and neoplastic nodules. Methods: Forty eight thyroid lesions forming four diagnostic groups including adenomatous goiters (AS), follicular adenomas (FA), follicular (FC) and papillary carcinomas (PC) were examined using standard immunohistochemical methods. Monoclonal antibodies against galectin-3, matrix metalloproteinases (MMPs) -2 and -7 and endothelial markers CD31 and CD105 were used. Results: The cytoplasmatic expression of galectin-3 was positive in all cases of papillary carcinoma. Moreover, statistically significant differences between fused groups of benign (AS and FA) and malignant lesions (FC and PC) were found Fischer's exact test (p = 0.0001). No significant differences in cytoplasmic expression of MMPs -2 and -7 and in vascular density assessed by using of both endothelial markers between benign lesions and malignant tumors were revealed. Conclusions: Galectin-3 appears to be a useful marker in the diagnosis of papillary carcinoma only. The matrix metalloproteinases-2 and -7 are not helpful in distinguishing hyperplastic and neoplastic thyroid nodules. Endothelial markers do not appear to be suitable for thyroid differential diagnosis. A panel of antibodies in the differential diagnosis of thyroid nodular lesions would seem most suitable and further studies with larger sets of patients are awaited.     

超声造影对子宫内膜病变良恶性鉴别诊断价值的研究

目的：探讨超声造影检查子宫内膜病变灌注特征及其在子宫内膜良恶性疾病中的鉴别诊断价值。方法：选择50例经阴式或腹式超声检查发现子宫内膜病变的术前患者。造影剂选用SonoVue,剂量为2．4mL,以团注方式由肘部浅静脉注入进行实时超声造影检查,观察宫腔内病变和子宫肌层、子宫内膜造影剂的显影特征及增强方式等超声造影表现,绘制时间-强度曲线（TIC）,与病理结果对照并分析各病灶的造影剂灌注特征,比较良、恶性病变的曲线参数的差别。结果：50例子宫内膜病变患者,29例良性病变和21例恶性病变。19例子宫内膜良性病变造影剂多同时或晚于子宫肌层增强,增强均匀,廓清晚于子宫肌层或同步于肌层。16例子宫内膜癌病变增强迅速,呈整体强化,病变区造影剂廓清,出现早于肌层,表现为”快进快出”。通过对时间．强度曲线的分析得出,良性病变与恶性病变平均绝对峰值强度、上升时间和斜率差别有统计学意义。结论：子宫内膜病变不同超声造影灌注模式特征和时间一强度曲线（TIC）不同,并对其良恶性鉴别诊断有重要意义。     

Screening for breast cancer in females at the level of regional (territorial, republican) clinical hospitals: organizational and methodological aspects

The paper deals with a special screening for breast cancer in female visitors of the consultative-and-diagnostic units (CDU) of regional (territorial, republican) clinical hospitals in the Russian Federation. The study was conducted in the CDU of the Moscow Regional Clinical Research Institute that in addition to its clinical researches acts as a regional clinical hospital for the Moscow Region. The basic idea of this screening is firstly that specialists of such-level CDU attended by many women requiring various consultations obligatorily give multifaceted counseling. Secondly, such polyclinic complexes have a required set of technical devices, such as as radiomammographs, ultrasound apparatuses, etc. In other words, there are prerequisites for providing a present-day screening, without spending any extra money. This screening has been made at the Institute since 2002. A total of 2724 risk-group females and 4222 female patients with the clinical signs of breast space-occupying lesions were examined. Its procedure including the formation of risk groups has been developed by means of a specially designed questionnaire. A comparative analysis of the results of these examinations gives preference to the screening diagnosis of this pathology. This all makes the author recommend this screening for its use in all 89 regions of the Russian Federation, by understanding that this can partially solve the problem of a screening for breast cancer in women in general outpatient care health facilities at the municipal level. Moreover, any attempts to mage a screening diagnosis of tumorous lesions at this level of today's health care become particularly relevant in the light of the governmental program to be implemented, which focuses on municipal public health that is one of its main goals.