Evaluation of somatic copy number variation detection by NGS technologies and bioinformatics tools on a hyper-diploid cancer genome.

BACKGROUND: Copy number variation (CNV) is a key genetic characteristic for cancer diagnostics and can be used as a biomarker for the selection of therapeutic treatments. Using data sets established in our previous study, we benchmark the performance of cancer CNV calling by six most recent and commonly used software tools on their detection accuracy, sensitivity, and reproducibility. In comparison to other orthogonal methods, such as microarray and Bionano, we also explore the consistency of CNV calling across different technologies on a challenging genome. RESULTS: While consistent results are observed for copy gain, loss, and loss of heterozygosity (LOH) calls across sequencing centers, CNV callers, and different technologies, variation of CNV calls are mostly affected by the determination of genome ploidy. Using consensus results from six CNV callers and confirmation from three orthogonal methods, we establish a high confident CNV call set for the reference cancer cell line (HCC1395). CONCLUSIONS: NGS technologies and current bioinformatics tools can offer reliable results for detection of copy gain, loss, and LOH. However, when working with a hyper-diploid genome, some software tools can call excessive copy gain or loss due to inaccurate assessment of genome ploidy. With performance matrices on various experimental conditions, this study raises awareness within the cancer research community for the selection of sequencing platforms, sample preparation, sequencing coverage, and the choice of CNV detection tools.

Repair versus Replacement of Defective Direct Dental Restorations: A Multinational Cross-sectional Study with Meta-Analysis.

OBJECTIVES: When dental practitioners encounter a defective restoration, they are faced with a crucial decision whether to repair or replace it. This study aims to explore international preferences for repair procedures and the clinical steps taken during the repair process. METHOD: An 11-question survey was distributed to dentists across 21 countries via different platforms. The survey comprised two sections: the first included five questions aimed at gathering demographic information, while the second consisted of six questions focusing on participants' practices related to the repair of composite or amalgam restorations A meta-analysis was employed to ascertain the pooled odds ratio of repairing versus replacement. The statistical analysis was carried out using the RevMan 5.3 program and forest plots were generated using the same program to visualize the results. RESULTS: The survey was completed by 3680 dental practitioners. The results indicated a strong tendency to repair defective composite restorations (OR: 14.23; 95% CI: 7.40, 27.35, p<0.001). In terms of amalgam, there was a significant tendency to replace the restorations (OR: 0.19; 95% CI: 0.12, 0.30, p<0.001). When repairing restorations, the most common protocols were etching with orthophosphoric acid and creating an enamel bevel, regardless of the restorative material used. CONCLUSION: The findings of this study indicate that there exists a knowledge gap among dental practitioners regarding restoration repair. It is imperative that dental practitioners receive proper education and training on restoration repair, to ensure the usage of adequate protocols and restoration survival.

Long-term Effect of Multichannel tDCS Protocol in Patients with Central Cortex Epilepsies Associated with Epilepsia Partialis Continua.

Epilepsia partialis continua (EPC) is a rare type of focal motor status epilepticus that causes continuous muscle jerking in a specific part of the body. Experiencing this type of seizure, along with other seizure types, such as focal motor seizures and focal to bilateral tonic-clonic seizures, can result in a disabling situation. Non-invasive brain stimulation methods like transcranial direct current stimulation (tDCS) show promise in reducing seizure frequency (SF) when medications are ineffective. However, research on tDCS for EPC and related seizures is limited. We evaluated personalized multichannel tDCS in drug-resistant EPC of diverse etiologies for long-term clinical efficacy We report three EPC patients undergoing a long-term protocol of multichannel tDCS. The patients received several cycles (11, 9, and 3) of five consecutive days of stimulation at 2 mA for 2 × 20 min, targeting the epileptogenic zone (EZ), including the central motor cortex with cathodal electrodes. The primary measurement was SF changes. In three cases, EPC was due to Rasmussen's Encephalitis (case 1), focal cortical dysplasia (case 2), or remained unknown (case 3). tDCS cycles were administered over 6 to 22 months. The outcomes comprised a reduction of at least 75% in seizure frequency for two patients, and in one case, a complete cessation of severe motor seizures. However, tDCS had no substantial impact on the continuous myoclonus characterizing EPC. No serious side effects were reported. Long-term application of tDCS cycles is well tolerated and can lead to a considerable reduction in disabling seizures in patients with various forms of epilepsy with EPC.

Harmonization of criteria and terminology in fetal rat skeletal evaluations.

BACKGROUND: A survey of laboratories in North American and Europe that routinely conduct fetal skeletal examinations was performed with the purpose of (1) understanding current terminology used for classifying skeletal findings in developmental toxicity (DT) studies and (2) understanding the criteria used to identify relatively common findings that sufficiently deviate from normal. The goal was to promote terminology harmonization and improve interlaboratory consistency in the criteria used to identify developmental anomalies. METHODS: The survey, designed based on terminology for developmental anomalies recommended by an international collaboration (Makris et al., Congenital Anomalies, 2009;49(3):123-246), was conducted by a subgroup (authors of this publication) of the Royal Society of Biology's International Register of Fetal Morphologists (IRFM). RESULTS: Individual and summarized anonymized responses are provided here. The authors, who are expert fetal morphologists with experience performing fetal examinations, reviewed the responses and generated recommendations on preferred terminology and criteria for determining when morphological variations deviate from normal and warrant recording of the findings for skeletal observations in Sprague Dawley (SD) fetal rats. The objective of these recommendations is to complement Makris et al. (Congenital Anomalies, 2009;49(3):123-246). CONCLUSION: The broad application will improve interlaboratory harmonization of recording fetal skeleton findings in developmental toxicity studies intended for regulatory submissions, including SEND (Standard for Exchange of Nonclinical Data).

[Metacognitive deficit in schizophrenia: Characteristics and links]. / Déficit métacognitif dans la schizophrénie : caractéristiques et liens.

OBJECTIVES: Research indicates that many patients with schizophrenia experience deficits in metacognitive capacity defined as the ability to form complex representations of themselves and others. The aim of the current study was to assess metacognitive deficit in patients with schizophrenia. These variables were collected together with many other sociodemographic, clinical and therapeutic data. METHODS: We conducted a descriptive and analytical cross-sectional study in the psychiatry department at the Hedi Chaker University Hospital in Sfax (Tunisia). Patients were in a non-acute phase, defined by the absence of any psychiatric symptoms during the last four weeks, also, no changes in medication during the previous month had been required. An informed written consent was obtained, following which patients completed questionnaires assessing sociodemographic and clinical data during structured interviews. Symptoms and severity of the illness were assessed using the Positive and Negative Symptoms Scale (PANSS). Insight was assessed using the Insight Scale (Q8). In addition, the Metacognition Assessment Scale-Abbreviated (MAS-A) was used to assess metacognitive capacities. The MAS-A contains four dimensions: self-reflectivity, awareness of the mind of others, decentration, and mastery. Higher scores reflect an ability to effectively respond to psychological challenges on the basis of psychological knowledge. RESULTS: We recruited 74 adults with schizophrenia disorder. The diagnosis was with DSM5. Their average age was 45 years (SD=9.84 years) with a sex ratio (M/F) of 1.552. Nineteen patients (25.5%) were married, and low educational level was present in 43% of cases. Forty patients (54%) were unemployed. Metacognitive deficit was detected in all the patients. They had low levels in all four dimensions of metacognition. The most affected dimension in our series was "Mastery". All patients had an overall insight score less than six (the average score was 2.73) with poor awareness in 62% of patients. The main factors correlated with metacognitive deficit were: occupational inactivity (P-0.015), Primary education level (P=0.045), tobacco consumption (P=0.002), low insight (P-0.001), negative symptomatology (P<10-3) and the use of first generation of antipsychotics (P=0.003). The multivariate analysis showed that three factors (occupational inactivity, low insight and the presence of negative symptomatology) were predictors of metacognitive deficits. CONCLUSION: Based on our results, occupational inactivity, negative symptomatology and low insight are predictors of metacognitive deficit in schizophrenia. Specific therapeutics should be proposed to act on these factors. A metacognitive training program, tailored to this vulnerable population, is a priority to improve their quality of life.

Diagnostic utility of serum melatonin levels in systemic lupus erythematosus: a case-control study.

Systemic lupus erythematosus (SLE) is a chronic systemic autoimmune inflammatory disease and early diagnosis is of clinical and therapeutic importance. Melatonin is an endogenous endolamine hormone that plays an important role in the immune system due to its anti-inflammatory action. This study was designed to assess serum melatonin levels in SLE patients and to evaluate the possible correlation between serum melatonin and patients' baseline characteristics. A case-control study was performed on 50 SLE patients (48 females and 2 males), diagnosed according to the revised 1997 ACR Criteria, and 25 healthy controls (24 females and 1 male), matched by age and sex. Daily serum melatonin levels were investigated in all participants using human melatonin enzyme linked immunosorbent assay (ELISA) kit (MYBIOSOURCE (MBS), United States). Serum melatonin concentration was significantly lower in patients with SLE compared to healthy controls (19.17±6.86 pg/mL vs 23.26±6.71 pg/mL, p=0.017). Serum melatonin concentration ≤18.51 pg/mL was the optimum cut off value to differentiate between SLE patients and healthy controls with an accuracy of 69.3%, a sensitivity of 66%, and a specificity of 76%. The positive predictive value (PPV) at pretest 50% was 73.3% and PPV at pretest 90% was 96.1%; the negative predictive value (NPV) at 10% was 95.3%. Patients' characteristics were not significantly correlated with serum melatonin concentrations using multiple logistic regression analysis. Serum melatonin was a valid measure to differentiate between SLE patients and healthy controls with good accuracy, sensitivity and specificity and PPV and NPV. There was no significant correlation between serum melatonin concentrations and patients' baseline characteristics.

Efficacy of Different Protocols in Treatment of Nephroblastoma: A revisit.

BACKGROUND: Management of Nephroblastoma (NB) remains a subject of debate despite the fact that it ranked first among primary childhood's renal neoplasm. We have previously discussed this issue 13, 14, yet, the sample size was limited. AIM: The aim of this study was to further evaluate the efficacy of initial surgery in the treatment of stage II and III pediatric NB as a part of the short administration schedule as in National Wilms' Tumor Study (NWTS)-4 and to evaluate its effectiveness compared to the long administration schedule. PATIENTS AND METHODS: The study included 50 children who were primarily diagnosed as stage II and III NB. They were divided into 2 equal groups. Group I (n = 25) included children who have undergone neoadjuvant chemotherapy followed by surgery and postoperative chemotherapy, while group II (n = 25) included children who have undergone primary surgery as an initial management followed by chemotherapy. After a mean postoperative follow-up period of 20±6 months, clinical and radiological evaluation was performed to all patients. RESULTS: In group I, 15 patients were preoperatively diagnosed as stage II and 10 patients as stage III while in group II, 16 patients were proved to be stage II and 9 patients were stage III. After a follow up period, clinical and radiological evaluation using CT was performed to all patients. In patients with stage II, evidence of recurrence was noted in 5 patients of group I whereas no patient showed any evidence of recurrence in group II. In patients with stage III, rebound increase in size was seen in 3 patients in group I and only one patient in group II. CONCLUSIONS: This study confirmed our previous conclusions that initial surgical intervention with appropriate adjuvant therapy has a better outcome than the neoadjuvant chemotherapy and delayed surgery for children primarily diagnosed as stage II and III NB. Moreover, it may also act as a short administration schedule for the treatment as it is not less effective than the long administration schedule and can be administered at a substantially lower total treatment cost.

A function-blocking CD47 antibody suppresses stem cell and EGF signaling in triple-negative breast cancer.

CD47 is a signaling receptor for thrombospondin-1 and the counter-receptor for signal-regulatory protein-α (SIRPα). By inducing inhibitory SIRPα signaling, elevated CD47 expression by some cancers prevents macrophage phagocytosis. The anti-human CD47 antibody B6H12 inhibits tumor growth in several xenograft models, presumably by preventing SIRPα engagement. However, CD47 signaling in nontransformed and some malignant cells regulates self-renewal, suggesting that CD47 antibodies may therapeutically target cancer stem cells (CSCs). Treatment of MDA-MB-231 breast CSCs with B6H12 decreased proliferation and asymmetric cell division. Similar effects were observed in T47D CSCs but not in MCF7 breast carcinoma or MCF10A breast epithelial cells. Gene expression analysis in breast CSCs treated with B6H12 showed decreased expression of epidermal growth factor receptor (EGFR) and the stem cell transcription factor KLF4. EGFR and KLF4 mRNAs are known targets of microRNA-7, and B6H12 treatment correspondingly enhanced microRNA-7 expression in breast CSCs. B6H12 treatment also acutely inhibited EGF-induced EGFR tyrosine phosphorylation. Expression of B6H12-responsive genes correlated with CD47 mRNA expression in human breast cancers, suggesting that the CD47 signaling pathways identified in breast CSCs are functional in vivo. These data reveal a novel SIRPα-independent mechanism by which therapeutic CD47 antibodies could control tumor growth by autonomously forcing differentiation of CSC.

[Psoriasis in 2016 : Co-morbidities and therapeutic update]. / Psoriasis en 2016 : Co-morbidités et nouveautés thérapeutiques.

Recognition of psoriasis as a chronic systemic inflammatory condition rather than just a skin disease is now widely accepted in the medical community. Association with joint involvement and depressive symptoms has been established for many years and several studies demonstrated an increased risk for comorbidities. These include the metabolic syndrome, obesity, hypertension, diabetes, dyslipidemia, non-alcoholic fatty liver disease, inflammatory bowel disease, and an increased incidence of cardiovascular events among those patients.

La reconnaissance du psoriasis comme un état inflammatoire systémique chronique plutôt qu'une simple maladie de la peau est actuellement largement admise dans la communauté médicale. A côté de l'atteinte articulaire et des symptômes dépressifs connus de longue date, de nombreuses études établissent un risque accru de comorbidités. Celles-ci incluent le syndrome métabolique, l'obésité, l'hypertension artérielle, le diabète, les dyslipidémies, la stéatose hépatique non alcoolique, les maladies inflammatoires du tube digestif et une survenue plus importante chez ces patients de maladies cardiovasculaires.

Primary Surgery in Treatment of Stages II and III Wilms' Tumour: A Developing Countries' Experience.

BACKGROUND: Treatment options for Wilms' tumour (WT) are costly and it affects the country's health budget and resources if adopted and implemented at the national level especially in developing countries with low or resource-challenged settings. AIM: The objective of this study is to evaluate the role and effectiveness of primary surgery in the treatment of stage II and III pediatric WT following the schedule indicated in the National Wilms' Tumor Study (NWTS-4) in the institutes of two developing countries. PATIENTS AND METHODS: The study enrolled 40 children who were primarily diagnosed as stage II and III WT. They were divided into 2 equal groups. Group I (n = 20) included those children who have undergone neoadjuvant chemotherapy followed by surgery and postoperative chemotherapy, while group II (n = 20) included those children who have undergone primary surgery as an initial management followed by chemotherapy. After a mean postoperative follow-up period of 20±5 months, clinical and radiological evaluation was performed for all patients. RESULTS: In group I, 15 patients were preoperatively diagnosed as stage II and 5 patients as stage III while in group II, 16 patients were proved to be stage II and 4 patients were stage III. After a follow up period, clinical and radiological evaluation using CT was performed on all patients. In patients with stage II, evidence of recurrence was noted in 4 patients of group I whereas no patient showed any evidence of recurrence in group II. In patients with stage III, rebound increase in size was seen in 2 patients in group I and only one patient in group II. CONCLUSION: Primary surgery with appropriate adjuvant therapy improves the treatment results compared to the neoadjuvant chemotherapy and delayed surgery for children primarily diagnosed as stage II and III WT. It may be used as a safe and effective tool in treating WT patients with relatively no changes from the long administration schedules. This will have a highly positive impact in lowering treatment cost in developing countries.

Alview: Portable Software for Viewing Sequence Reads in BAM Formatted Files.

The name Alview is a contraction of the term Alignment Viewer. Alview is a compiled to native architecture software tool for visualizing the alignment of sequencing data. Inputs are files of short-read sequences aligned to a reference genome in the SAM/BAM format and files containing reference genome data. Outputs are visualizations of these aligned short reads. Alview is written in portable C with optional graphical user interface (GUI) code written in C, C++, and Objective-C. The application can run in three different ways: as a web server, as a command line tool, or as a native, GUI program. Alview is compatible with Microsoft Windows, Linux, and Apple OS X. It is available as a web demo at https://cgwb.nci.nih.gov/cgi-bin/alview. The source code and Windows/Mac/Linux executables are available via https://github.com/NCIP/alview.

Genome-wide transcriptional sequencing identifies novel mutations in metabolic genes in human hepatocellular carcinoma.

We report on next-generation transcriptome sequencing results of three human hepatocellular carcinoma tumor/tumor-adjacent pairs. This analysis robustly examined ∼12,000 genes for both expression differences and molecular alterations. We observed 4,513 and 1,182 genes demonstrating 2-fold or greater increase or decrease in expression relative to their normal, respectively. Network analysis of expression data identified the Aurora B signaling, FOXM1 transcription factor network and Wnt signaling pathways pairs being altered in HCC. We validated as differential gene expression findings in a large data set containing of 434 liver normal/tumor sample pairs. In addition to known driver mutations in TP53 and CTNNB1, our mutation analysis identified non-synonymous mutations in genes implicated in metabolic diseases, i.e. diabetes and obesity: IRS1, HMGCS1, ATP8B1, PRMT6 and CLU, suggesting a common molecular etiology for HCC of alternative pathogenic origin.

Different surgical modalities in management of paediatric abdominal lymphoma.

BACKGROUND: The abdomen is one of the most frequent sites for lymphoma in children. The role of surgery has been limited to intra-abdominal resectable tumours or as a diagnostic procedure in case of disseminated disease. Laparotomy without total excision of the tumour does not improve survival; moreover, it may cause complications and delays initiation of chemotherapy. AIM OF THE WORK: This study was undertaken to assess the role of surgery in the management of children and adolescents presenting with intra-abdominal lymphoma in order to create certain criteria to select the proper surgical modality for managing those patients. PATIENTS AND METHODS: This case-series, retrospective study was done on 33 patients of abdominal lymphoma over a period of seven years from 2000 to 2007. Patients' files were reviewed regarding the full clinical examinations, laboratory and radiological investigations as well as surgical and diagnostic procedures. Collected data were tabulated and statistically analyzed using SPSS program package. RESULTS: Eleven patients (33.3%) presented with huge pelvi-abdominal mass and eleven (33.3%) had generalized lymphadenopathy beside their abdominal affection. The remaining 11 (33.3%) patients presented with symptoms of an acute abdomen. A total of 15 laparotomies were done. 11 patients underwent emergency laparotomy for acute abdomen and 4 patients had elective abdominal exploration. Lymph node biopsies were taken in 7 patients and laparoscopy procedures were performed in 3 patients as a diagnostic tool. Out of the total 33, the remaining 8 patients underwent true cut needle biopsy for diagnosis of their disease. CONCLUSION: Surgery still has a role in treatment of lymphoma whether non Hodgkin or Hodgkin's. However, in disseminated metastatic disease, aggressive debulking of the tumour should be avoided as chemotherapy is to be instituted primarily. Surgical resection does not cause significant change in morbidity or mortality. KEYWORDS: Abdominal lymphoma in paediatrics, role of surgery.

Stathmin 1 is a potential novel oncogene in melanoma.

In previous studies, we demonstrated that miR-193b expression is reduced in melanoma relative to benign nevi, and also that miR-193b represses cyclin D1 and Mcl-1 expression. We suggested that stathmin 1 (STMN1) might be a target of miR-193b. STMN1 normally regulates microtubule dynamics either by sequestering free tubulin heterodimers or by promoting microtubule catastrophe. Increased expression of STMN1 has been observed in a variety of human malignancies, but its association with melanoma is unknown. We now report that STMN1 is upregulated during the progression of melanoma relative to benign nevi, and that STMN1 is directly regulated by miR-193b. Using an experimental cell culture approach, overexpression of miR-193b using synthetic microRNAs repressed STMN1 expression, whereas inhibition of miR-193b with anti-miR oligos increased STMN1 expression in melanoma cells. The use of a luciferase reporter assay confirmed that miR-193b directly regulates STMN1 by targeting the 3'-untranslated region of STMN1 mRNA. We further demonstrated that STMN1 is overexpressed in malignant melanoma compared with nevi in two independent melanoma cohorts, and that its level is inversely correlated with miR-193b expression. However, STMN1 expression was not significantly associated with patient survival, Breslow depth, mitotic count or patient age. STMN1 knockdown by small-interfering RNA in melanoma cells drastically repressed cell proliferation and migration potential, whereas ectopic expression of STMN1 using lentivirus increased cell proliferation and migration rates. Subsequent gene expression analysis indicated that interconnected cytoskeletal networks are directly affected following STMN1 knockdown. In addition, we identified deregulated genes associated with proliferation and migration, and revealed that p21(Cip1/Waf1) and p27(Kip) could be downstream effectors of STMN1 signaling. Taken together, our study suggests that downregulation of miR-193b may contribute to increased STMN1 expression in melanoma, which consequently promotes migration and proliferation of tumor cells.

[Assessment of the congenital syphilis prevention programs]. / Evaluari asupra programelor de preventie a sifilisului congenital.

UNLABELLED: The Romanian program for the management and screening of syphilis includes the recording, follow-up, and antenatal care of pregnant women. It aims at testing all pregnant women for syphilis with the help of VDLR (Venereal Disease Research Laboratory) or RPR (Rapid Plasma Reagin) tests, and in the women with positive tests to confirm the results by treponemal tests (treponemal antibodies): THPA (Treponema Pallidum Hemagglutination), FTA-Abs (Fluorescent Treponemal Antibody with Absorption), ELISA-Captia-IgM, and Western Blotting-IgM. In the pregnant women with positive tests two doses of 2.4 million units of penicillin G benzathine were administered at 5 days interval. These pregnant women are in the evidence of a specialist (obstetrician, dermatologist), and District Department of Public Health, and required to come for another serology test in 3 months. In case they still test positive, the same treatment is applied at the beginning of the third trimester of pregnancy. AIM: To assess the outcome of congenital syphilis prevention programs in lasi, Romania. MATERIAL AND METHODS: In the interval 2005-2011, in the Iasi town, 84 RPR positive pregnant women were recorded. There was no significant difference in the number of pregnant women residing in urban as compared to rural areas. Most of these women were from poor social environments and had a low level of education. The diagnosis of acquired syphilis was made by serological tests as most pregnant women presented in the period of syphilis latency, being asymptomatic. All pregnant women followed the treatment, and were tested periodically. Ultrasound examination was normal in all women (no changes suggestive of fetal malformations). RESULTS: Free clinical, laboratory, and ultrasound investigations, history taking, psychological assessment, sex education, rapid identification of contacts of known patients, follow-up of the interaction between health care providers and syphilitic pregnant women, booklets, and leaflets altogether made that in the last 3 years (2008-2010) no new case of congenital syphilis to be reported in the study area. CONCLUSIONS: Encouraging women to attend antenatal care early in their pregnancy is essential, this way all pregnancy-related problems (syphilis included) could be managed.

Bambino: a variant detector and alignment viewer for next-generation sequencing data in the SAM/BAM format.

SUMMARY: Bambino is a variant detector and graphical alignment viewer for next-generation sequencing data in the SAM/BAM format, which is capable of pooling data from multiple source files. The variant detector takes advantage of SAM-specific annotations, and produces detailed output suitable for genotyping and identification of somatic mutations. The assembly viewer can display reads in the context of either a user-provided or automatically generated reference sequence, retrieve genome annotation features from a UCSC genome annotation database, display histograms of non-reference allele frequencies, and predict protein-coding changes caused by SNPs. AVAILABILITY: Bambino is written in platform-independent Java and available from https://cgwb.nci.nih.gov/goldenPath/bamview/documentation/index.html, along with documentation and example data. Bambino may be launched online via Java Web Start or downloaded and run locally.

[Syphilis in pregnancy]. / Unele observatii privind infectia sifilitica la gravide.

UNLABELLED: Inadequately treated, maternal syphilis often results in serious sequels for the fetus/newborn. Poor prenatal care is a major risk factor for the development of congenital syphilis. AIM: To determine the results of syphilis screening and followup programs on the incidence of syphilis in pregnant women and their offspring. MATERIAL AND METHODS: Data on the incidence of syphilis, new syphilis cases, pregnant women diagnosed with syphilis and newborns confirmed with congenital syphilis in the Iasi district in the interval 2000-2009 have been collected. RESULTS: In the interval 2000-2010 the incidence of syphilis in the lasi district has decreased from 47.5/100,000 inhabitant in 2001 to 10.5% in 2009, and the new syphilis cases from 627 in 2001 to 87 in 2009. The highest number of pregnant women infected with syphilis was recorded in 2006 (74), and the lowest in 2010 (26). Most newborns confirmed with congenital syphilis were also recorded in 2006 (6), in the interval 2008-2010 no such case being recorded. CONCLUSIONS: All pregnant women have to be subjected to a serological screening test for syphilis at least twice during pregnancy: early during the first trimester and after week 28. Moreover, the women at risk for syphilis have to be examined serologically at delivery. All women who miscarry after 20 weeks of gestation have to be tested for syphilis. All newborns whose mothers' serological status for syphilis was not determined during pregnancy have to be tested before discharge.