Comprehensive analysis of circulating viral DNA in maternal plasma at population-scale using low-pass whole-genome sequencing.

As the most readily adopted molecular screening test, low-pass WGS of maternal plasma cell-free DNA for aneuploidy detection generates a vast amount of genomic data. This large-scale method also allows for high-throughput virome screening. NIPT sequencing data, yielding 6.57 terabases of data from 187.8 billion reads, from 12,951 pregnant Turkish women was used to investigate the prevalence and abundance of viral DNA in plasma. Among the 22 virus sequences identified in 12% of participants were human papillomavirus, herpesvirus, betaherpesvirus and anellovirus. We observed a unique pattern of circulating viral DNA with a high prevalence of papillomaviruses. The prevalence of herpesviruses/anellovirus was similar among Turkish, European and Dutch populations. Hepatitis B prevalence was remarkably low in Dutch, European and Turkish populations, but higher in China. WGS data revealed that herpesvirus/anelloviruses are naturally found in European populations. This represents the first comprehensive research on the plasma virome of pregnant Turkish women.

Factors Affecting Recurrence of Idiopathic Granulomatous Mastitis.

OBJECTIVE: To investigate factors that may have an effect on recurrence by retrospectively analysing the data of patients who were followed up and treated for idiopathic granulomatous mastitis in this clinic. STUDY DESIGN: Analytic study. PLACE AND DURATION OF STUDY: Department of General Surgery, Faculty of Medicine, Baskent University, Konya and Adana Practice and Research Hospitals between January 2010 and January 2021. METHODOLOGY: The data of patients who were histopathologically diagnosed with granulomatous mastitis were retrospectively analysed. The patients included in the study were divided into two groups: Recurrence (Group 1) and non-recurrence (Group 2). Patients with underlying etiological factors that may cause granulomatous inflammation such as infection, trauma, tuberculosis, sarcoidosis, and autoimmune disease were excluded from the study. The effects of other parameters (involvement area, follow-up duration, the time from the onset of complaints to diagnosis, side of involvement, breastfeeding, oral contraceptive use, redness, ulceration and/or discharge, preoperative histopathological diagnosis, diagnosis by any of the preoperative imaging techniques, preferred treatment method) on recurrence, were statistically analysed. RESULTS: Furthermore, the analysis results showed no significant difference between the groups with and without recurrence with regard to any of the other variables such as follow-up period, size of the involvement area, presenting complaints, breast-feeding, preferred treatment alternative (steroid, steroid + surgery, surgery), and preferred surgical technique (p>0.05). The time from the onset of complaints to diagnosis was significantly longer in the recurrence group (p=0.001). In addition, the frequency of oral contraceptive use was statistically significantly higher in the recurrence group (Odds ratio=7.6, p=0.044). CONCLUSION: The results of this study suggest that early diagnosis could prevent recurrence in patients with idiopathic granulomatous mastitis. Prospective randomised controlled studies are needed to support this thought. Key Words: Idiopathic granulomatous mastitis, Malignancy, Oral contraceptive, Steroid.

Diagnosis of micropapillary carcinoma of the breast by endometrial biopsy in a postmenopausal patient with abnormal uterine bleeding.

Metastasis of breast cancer to the uterus is quite rare. The majority of reported cases have evolved from previously known invasive ductal and lobular carcinomas of the breast. Herein, a rare case of invasive micropapillary carcinoma of the breast that was diagnosed via endometrial biopsy, without a previous diagnosis or history of breast cancer, was presented. A 58-year-old postmenopausal patient, who had no history of cancer, presented with complaints of abnormal uterine bleeding (AUB) that had begun 2 weeks prior. After undergoing transvaginal ultrasonography, endometrial biopsy, tomography, and positron emission tomography/computed tomography, the patient was preliminarily diagnosed with invasive carcinoma of the breast. The biopsy confirmed the diagnosis of metastatic invasive micropapillary carcinoma of the breast. In postmenopausal AUB, endometrial metastasis of breast cancer should be kept in mind, especially in underdeveloped and developing countries where regular breast cancer screening has not been achieved. KEY WORDS: Breast cancer, Endometrium, Metastasis, Micropapillary carcinoma.

Is placental KISS-1 expression associated with first trimester abortion spontaneous?

OBJECTIVE: Several studies have examined biological markers during the first trimester to predict the maintenance of a healthy pregnancy. One such marker is kisspeptin, which is encoded by the KISS-1 gene. We aimed to determine whether firsttrimester pregnancy losses were associated with levels of placental KISS-1 expression. METHODS: This prospective case control study was conducted at a tertiary center. The study group included 27 and 24 patients who underwent dilation and curettage at <10 weeks of gestation, due to first trimester spontaneous pregnancy loss and for elective termination (control), respectively. Placental and decidual tissues from all patients were sectioned and immunohistochemically analyzed for kisspeptin. RESULTS: Age, gravida status, parity number, gestational week, and number of previous abortions did not significantly differ between the groups. KISS-1 expression levels were significantly lower in the group with spontaneous abortion compared with the group with elective termination. The median staining intensity of KISS-1 expression in the elective and spontaneous termination groups were 3 (strong) and 2 (moderate), respectively (P=0.004). KISS-1 expression levels were significantly lower among patients with previous abortions in the elective termination group (P=0.002). CONCLUSION: KISS-1 expression levels were found to be significantly reduced in patients with spontaneous pregnancy loss; KISS-1 plays an important role in the implantation and continuation of pregnancy.

Serum and placental periostin levels in women with early pregnancy loss.

OBJECTIVES: Periostin is secreted from the placenta in the embryonic period and it is emphasized that it may be involved in endometrial implantation. In this study, we aimed to investigate periostin serum levels and placental tissue expression in first trimester pregnancy losses. STUDY DESIGN: In this prospective case-control study, 30 patients who underwent dilatation and curettage with first trimester spontaneous abortion (<10 weeks of gestation) were included in the study group and 30 patients who had voluntary pregnancy termination (<10 gestational weeks) were included in the control group. Serum samples collected from the study and control groups were analyzed usingenzyme-linkedimmunosorbent assay (ELISA), and trophoblastic and decidual tissues were examined using immunohistochemical staining with streptavidin-biotin-peroxidase techniques. RESULTS: There were no significant differences between the groups in terms of age, gravida status, parity number, gestational week, and number of previous abortions. In the spontaneous abortion group, the serum level of periostin was significantly lower than in the voluntary termination group (6.56 ± 4.16 pg/mLvs. 9.51 ± 4.52 pg/mL, p = 0.03). There was no significant difference between the two groups in terms of periostin expression in decidual and trophoblastic tissue (p = 0.617, p = 0.274, p = 0.497). CONCLUSION: Periostin serum levels were significantly reduced in patients with spontaneous pregnancy loss. Periostin can be used as a predictive marker for the success of endometrial implantation.

Is there any association between colonic polyps and gastric intestinal metaplasia?

BACKGROUND/AIMS: Chronic gastritis progression is a multistep process of atrophy, intestinal metaplasia (IM), and dysplasia, which may lead to invasive carcinoma. In this study, we identified an association of colonic polyps with gastric IM in patients undergoing colonoscopy. MATERIALS AND METHODS: This retrospective case-control, cross-sectional study was conducted in a tertiary-care institution in Turkey. Pathology and endoscopy reports were reviewed. The study group comprised 400 patients with colonic adenomatous polyps, and the control group comprised 360 patients without colonic adenomatous polyps on colonoscopy. RESULTS: The risk of gastric IM was 1.42-fold higher in the study group (p<0.05). The risk of IM in patients aged ≥50 years with colonic polyps was 3.35-fold higher than in those aged <50 years (p<0.05). The risk of Helicobacter pylori infection in the study group was 1.07-folder higher than that in the control group (p<0.05). H. pylori infection prevalence was higher only in patients with high-grade colonic polyp dysplasia (p<0.05). There were no statistically significant differences in the proportion of incomplete IM between the groups (p<0.05). CONCLUSION: This study observed increased rates of gastric IM with colonic polyps. An increased risk of gastric IM was associated with higher grades of polyp dysplasia.

Does the Presence of Endometrial Polyp Predict Colorectal Polyp?

INTRODUCTION: Endometrial polyps (EPs) and colorectal polyps (CPs) are common disorders and the incidence of both increase rapidly with aging. CPs are focal lesions and incidence increases with age. AIM: In this study, we aimed to analyze retrospectively the relationship between the EPs and CPs sharing similar clinical and genetic factors in their etiopathogenesis. MATERIALS AND METHODS: This study was retrospectively performed between 2010 and 2013 and it included patients diagnosed to have eEPs. The study group and the control group consisted of patients who were diagnosed with or without EPs and who underwent colonoscopy at the same period. RESULTS: The study group was formed by 57 patients with diagnosis of EP who underwent colonoscopy during the same period. The control group consisted of 71 patients without EP examined with colonoscopy. Among 128 patients assessed in this study, 24 were diagnosed with CPs, all of which were adenomatous polyps smaller than 1cm. No hyperplastic or inflammatory polyps were diagnosed. While 18 of 57 patients with EPs had CPs, 6 of 71 control subjects had CPs. Hence, the risk of having CP was 5 times greater in patients with EP compared to those without (P < 0.05). CONCLUSION: The present study demonstrated that the prevalence of CPs increased significantly in postmenopausal patients with EPs. Recommending colonoscopy to these patients irrespective of age may be beneficial for detecting more CPs and preventing colorectal cancer.

A Comparison of Five Different Treatment Regimens as the First-Line Treatment of Helicobacter pylori in Turkey.

BACKGROUND: The H. pylori eradication success is low in countries with high antibiotic resistance to H. pylori. OBJECTIVE: We retrospectively assessed the eradication rates achieved by five different regimens and aimed to compare the efficiency of bismuth enhanced sequential therapy and other treatments in a gastroenterology outpatient clinic a university-affiliated hospital. DESIGN: Our study was carried out with a retrospective cohort design. SETTING: This study assessed the gastroscopy examinations of patients. PATIENTS: A total of 621 patients were included in the study. There were 122 patients in the quadruple treatment group, 168 patients in the classical sequential treatment group, 130 patients in the bismuth enhanced sequential therapy, 113 patients in the sequential treatment with levofloxacin, and 88 patients in the hybrid treatment. MEASUREMENTS: Eradication rates of different regimens was analyzed by performing Chi-square and Tukey's honest significant difference test. RESULTS: Eradication rates by ITT and PP analysis achieved by treatment groups were 74.6 and 75.6% in the quadruple treatment; 70.2 and 70.4% in the sequential treatment with clarithromycin, 88.5 and 90.3% in the bismuth enhanced sequential therapy, 77.9 and 78.5% in the sequential treatment with levofloxacin, and 76.1 and 76.2% in the hybrid treatment. LIMITATIONS: The main limitation of our study was its retrospective nature. Different proton pump inhibitors were used in the treatment arms. CONCLUSIONS: Bismuth-enhanced sequential therapy can be recommended to overcome resistance.

A new hereditary congenital facial palsy case supports arg5 in HOX-DNA binding domain as possible hot spot for mutations.

Moebius syndrome (MBS) is a rare congenital disorder characterized by rhombencephalic mal development, mainly presenting with facial palsy with limited gaze abduction. Most cases are sporadic, possibly caused by a combination of environmental and genetic factors; however, no proven specific associations have been yet established. Hereditary congenital facial palsy (HCFP) is an autosomal dominant congenital dysinnervation syndrome, recognizable by the isolated dysfunction of the seventh cranial nerve. Mutant mice for Hoxb1 were reported to present with facial weakness, resembling MBS. Recently a homozygous mutation altering arg5 residue of HOXB1 homeodomain into cys5 was identified in two families with HCFP. We screened 95 sporadic patients diagnosed as MBS or HCFP for mutations in HOXB1. A novel homozygous alteration was identified in one HCFP case, affecting the same residue, resulting to his5. In silico protein analysis predicted stronger HOXB1-DNA binding properties for his5 than cys5 that resulted to milder phenotype. It should be noted that, inclusive of the previous report, only two mutations revealed in HOXB1 associated with HCFP involved the same amino acid arg5 in HOXB1 residing in HOXB1-DNA-PBX1 ternary complex.

Setleis syndrome: clinical, molecular and structural studies of the first TWIST2 missense mutation.

Setleis syndrome is characterized by bitemporal scar-like lesions and other characteristic facial features. It results from recessive mutations that truncate critical functional domains in the basic helix-loop-helix (bHLH) transcription factor, TWIST2, which regulates expression of genes for facial development. To date, only four nonsense or small deletion mutations have been reported. In the current report, the clinical findings in a consanguineous Turkish family were characterized. Three affected siblings had the characteristic features of Setleis syndrome. Homozygosity for the first TWIST2 missense mutation, c.326T>C (p.Leu109Pro), was identified in the patients. In silico analyses predicted that the secondary structure of the mutant protein was sustained, but the empirical force field energy increased to an unfavorable level with the proline substitution (p.Leu109Pro). On a crystallographically generated dimer, p.Leu109 lies near the dimer interface, and the proline substitution is predicted to hinder dimer formation. Therefore, p.Leu109Pro-TWIST2 alters the three dimensional structure and is unable to dimerize, thereby hindering the binding of TWIST2 to its target genes involved in facial development.

Giant fibroadenoma growing rapidly during pregnancy.

INTRODUCTION: Giant fibroadenoma is a rare disease with unknown etiology. During pregnancy, fibroadenomas increase in size and may show lactational histologic changes. High concentrations of estrogen, progesterone, and prolactin promote the ductal growth and formation of tubuloalveolar structures. This may be a reason for the significant enlargement in this period. CASE PRESENTATION: We presented a case of giant fibroadenoma, first detected at the onset of pregnancy, which grew rapidly and was excised surgically two months after the birth. There was no marked deformity in the breast nor a need to reconstruct it, despite the giant mass was excised and the mother was lactating. DISCUSSION: We presented a rare case of giant fibroadenoma in a lactating woman. A progressively growing mass in breast can lead to structural damages. The current management approach for giant fibroadenomas is still surgical excision.

Immunohistochemical analysis of Ki-67 in dental follicle of asymptomatic impacted third molars.

INTRODUCTION: Dental follicle (DF) is an ectomesenchymal tissue that surrounds the developing tooth germ and contains precursor cells for cementoblasts, periodontal ligaments and osteoblasts. Radiographically, the DFs are seen as semicircular radiolucencies around unerupted teeth. However, if the DFs are larger than 2.5 mm, they are considered to be a pathological change. AIMS AND OBJECTIVES: The purpose of this study is to assess the cell proliferation activity of DF surrounding an asymptomatic impacted third molar teeth using the Ki 67 proliferation marker and to evaluate the variation of cell proliferation depending on the age factor. MATERIALS AND METHODS: Forty-four specimens of DFs associated with impacted mandibular third molars fully covered by mucosa or bone were surgically removed from 44 patients. The patients were divided into 2 age groups. Twenty of forty-four DFs were between 18 and 29 years (Group 1) and 24 were 30 years and above (Group 2). Ki-67 immunostaining was evaluated in epithelial component of the DFs. RESULTS: Ki 67 expression was found to be 60% in Group 1 and 75% in Group 2. Statistically significant differences were found among the two groups in both the basal layer and the supra-basal layer. CONCLUSION: This study shows that DFs have more proliferative potential in older people as compared to the young and squamous metaplasia may be an early sign of developing lesions of odontogenic origin. Therefore, clinicians should be aware that histopathological changes could be found in DFs without clinical and radiographic alterations.

Bilateral breast necrosis due to local injection of fish oil.

The breast is as aesthetically important as it is physiologically. Physicians and women have practiced various methods for breast aesthetics and augmentation. We report a female veterinarian who injected fish oil into her breast, which led to inflammation and necrosis of breast tissue. When all medical therapies failed, bilateral subcutaneous mastectomy was performed. We did not find a case in the literature where fish oil had been used for breast augmentation. However, we did find that many agents have been injected for breast augmentation, the results of which were tragic, just as the case presented herein.