Intrahepatic portal venous variations: prevalence with US.

A prospective ultrasound study was undertaken to determine the prevalence of variants of the intrahepatic branching of the portal venous system. Of the 507 patients examined, 55 (10.8%) had trifurcation, 24 (4.7%) had a right posterior segmental branch arising from the main portal vein, 22 (4.3%) had a right anterior segmental branch originating from the left portal vein, and one (0.2%) had absence of the horizontal segment of the left portal vein. Not one patient had complete absence of the right portal vein in this series. The remaining 405 (79.9%) patients had normal distribution of the portal venous system; some patients of the normal group had minor variations in distribution.     

Imaging-Based Diagnosis of Autosomal Dominant Polycystic Kidney Disease

The clinical use of conventional ultrasonography (US) in autosomal dominant polycystic kidney disease (ADPKD) is currently limited by reduced diagnostic sensitivity, especially in at-risk subjects younger than 30 years of age. In this single-center prospective study, we compared the diagnostic performance of MRI with that of high-resolution (HR) US in 126 subjects ages 16–40 years born with a 50% risk of ADPKD who underwent both these renal imaging studies and comprehensive PKD1 and PKD2 mutation screening. Concurrently, 45 healthy control subjects without a family history of ADPKD completed the same imaging protocol. We analyzed 110 at-risk subjects whose disease status was unequivocally defined by molecular testing and 45 unaffected healthy control subjects. Using a total of >10 cysts as a test criterion in subjects younger than 30 years of age, we found that MRI provided both a sensitivity and specificity of 100%. Comparison of our results from HR US with those from a previous study of conventional US using the test criterion of a total of three or more cysts found a higher diagnostic sensitivity (approximately 97% versus approximately 82%) with a slightly decreased specificity (approximately 98% versus 100%) in this study. Similar results were obtained in test subjects between the ages of 30 and 40 years old. These results suggest that MRI is highly sensitive and specific for diagnosis of ADPKD. HR US has the potential to rival the diagnostic performance of MRI but is both center- and operator-dependent.     

The Reverse-Direction Method Links Mass Experimental Data to Human Diseases

Genome-wide analyses such as DNA microarray, RNA sequencing and RNA interference-based high-throughput screening are prevalent to decipher a biological process of interest, and provide a large quantity of data to be processed. An ultimate goal for researchers must be extrapolation of their data to human diseases. We have conducted functional genome-wide screenings to elucidate molecular mechanisms of the inflammation amplifier, a NFκB/STAT3-dependent machinery that potently drives recruitment of immune cells to promote inflammation. Using a public database of genome-wide association studies (GWAS), we recently reported the reverse-direction method by which our mass screening data were successfully linked to many human diseases. As an example, the epiregulin–epidermal growth factor receptor pathway was identified as a regulator of the inflammation amplifier, and associated with human diseases by GWAS. In fact, serum epiregulin levels were higher in patients with chronic inflammatory disorders. The reverse-direction method can be a useful tool to narrow mass data down to focus on human disease-related genes.     

Molecular Epidemiology of SARS-CoV-2 in Tunisia (North Africa) through Several Successive Waves of COVID-19

Documenting the circulation dynamics of SARS-CoV-2 variants in different regions of the world is crucial for monitoring virus transmission worldwide and contributing to global efforts towards combating the pandemic. Tunisia has experienced several waves of COVID-19 with a significant number of infections and deaths. The present study provides genetic information on the different lineages of SARS-CoV-2 that circulated in Tunisia over 17 months. Lineages were assigned for 1359 samples using whole-genome sequencing, partial S gene sequencing and variant-specific real-time RT-PCR tests. Forty-eight different lineages of SARS-CoV-2 were identified, including variants of concern (VOCs), variants of interest (VOIs) and variants under monitoring (VUMs), particularly Alpha, Beta, Delta, A.27, Zeta and Eta. The first wave, limited to imported and import-related cases, was characterized by a small number of positive samples and lineages. During the second wave, a large number of lineages were detected; the third wave was marked by the predominance of the Alpha VOC, and the fourth wave was characterized by the predominance of the Delta VOC. This study adds new genomic data to the global context of COVID-19, particularly from the North African region, and highlights the importance of the timely molecular characterization of circulating strains.     

Expectant treatment of ectopic pregnancies: clinical and sonographic predictors

OBJECTIVE. We identified the potential clinical and sonographic predictors of the spontaneous resolution of ectopic pregnancies. SUBJECTS AND METHODS. We performed a prospective study of 78 consecutive patients with a transvaginal sonographic diagnosis of ectopic pregnancy who had either two consecutive quantitative measurements of their beta subunit of human chorionic gonadotropin (beta-hCG) more than 24 hrs apart or an embryo with a heart beat. We evaluated the patient's age, time from the last menstrual period, beta-hCG level, size of ectopic pregnancy, presence of a gestational sac or embryonic elements, vascularity on color Doppler sonography, peak systolic velocity, and resistive index of ectopic pregnancy at the time of presentation as potential independent predictors of the final outcome. Logistic regression was performed to identify the independent predictors. RESULTS. Forty-six patients had declining beta-hCG levels, and 32 ectopic pregnancies showed an embryo with a heart beat or had steady or rising beta-hCG levels. Univariate analysis indicated that a longer time from the last menstrual period (older ectopic pregnancies), lower beta-hCG levels, and the absence of gestational sac are statistically more significantly seen in ectopic pregnancies with declining beta-hCG levels (p < 0.05). Resistive index of ectopic pregnancy reached borderline significance (p = 0.05). In a multiple logistic model, the same variables were independent predictors of outcome (p < 0.05). Resistive index was also a predictor (p = 0.09). CONCLUSION. Longer times from the last menstrual period, lower beta-hCG levels, absence of gestational sacs, and higher resistive indexes of ectopic pregnancy at the time of presentation appear to be independent predictors of the spontaneous resolution of ectopic pregnancy.     

Prognostic value of chromosome 1 and 8 copy number in invasive ductal breast carcinoma among iranian women: An interphase FISH analysis

Breast cancer is amongst the leading causes of death in women worldwide and the most common cancer amongst Iranian women. Unfortunately, the current clinical and histological criteria can only help 60 percent of women with breast cancer in diagnosis and long-term treatment. Therefore, genetic markers both at single gene and chromosomal level can play an important role in improving the diagnosis and prognosis of breast cancer patients. The aim of this retrospective study was to investigate the role of chromosome 1 and 8 copy number assessed by interphase fluorescence in situ hybridization (FISH), as prognostic parameters in 50 Iranian women, aged 35 to 64 years, with sporadic invasive ductal breast carcinoma. Chromosome 1 and 8 copy numbers were evaluated in relation to established clinicopathological parameters, the immunohistochemical markers ER, PR, P53 and cathepsin D, DNA index by flow cytometry, age and survival status of the patients. FISH using centromeric probes for chromosomes 1 and 8 was applied to interphase cell suspensions prepared from archived, Carnoyfixed tumor cells and selected paraffin-embedded tumor sections. Aneusomy for chromosomes 1 and 8 was present in all 50 patients to different levels. The total abnormality rate for chromosome 1 was 33.92 percent (4.24 percent monosomy and 29.68 percent polysomy), whereas for chromosome 8 this rate was 28.30 percent (6.48 percent monosomy and 21.82 percent polysomy). Statistically significant association (p<0.05) was demonstrated between monosomy 1 and patients’ age below 50 years, and between monosomy 1 and poor survival, respectively. Disomy 8 was significantly associated with P53 expression. A borderline significant correlation was demonstrated between polysomy 8 and diploid DNA content, as well as between disomy 1 and disease-free status of the patients. Chromosome 1 and 8 copy numbers may be considered as useful prognostic markers in invasive ductal carcinoma of the breast.