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Cleft lip and/or palate are prevalent congenital anomalies. Early and accurate diagnosis allows proper case management. The Objective: This retrospective cohort study aimed to investigate the association between cleft lip and palate and other congenital anomalies. Methods: This study analyzed 17 pregnancies prenatally diagnosed with cleft lip and palate. The investigations consisted of ultrasound examination, fetal karyotyping through amniocentesis, and family tree analysis. In the presence of an abnormal fetal karyotype, the parental karyotype was also indicated. Results: Of the 17 cases identified, 9 (52.94%) were syndromic and 8 (47.06%) were non-syndromic. The genetic syndromes identified in association with cleft lip and palate in this study included translocation syndrome (one case), Patau syndrome, trisomy 13 (seven cases), and Edwards syndrome, mosaic trisomy 18 (one case). Conclusions: A comprehensive approach ensures a thorough assessment and accurate diagnosis. Early detection and a multidisciplinary approach allow appropriate case management.

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INTRODUCTION: Ovarian metastases (OM) of breast cancer (BC) can occur with different rates, ranging from 3-30%, being reported after prophylactic, therapeutic ovariectomies or discovered at necropsy. The aim of the study was to review the histopathological aspects of 59 laparoscopic oophorectomies performed in our Department as part of the oncological treatment of premenopausal women with BC. A number of eight (13.55%) patients were histologically confirmed with OM. The initial tumor, node, metastasis (TNM) stage of BC tumors was advanced with no pelvic symptoms or imaging abnormalities associated. Five (62.5%) patients had unilateral ovarian involvement and three (37.5%) bilateral, two of them being associated with primary bilateral BC. The immunohistochemical markers used to confirm the breast origin of metastasis were estrogen receptor (ER), progesterone receptor (PR), gross cystic disease fluid protein 15 (GCDFP15), Wilms' tumor 1 (WT1), cancer antigen-125 (CA-125), cytokeratin 7 (CK7), cytokeratin 20 (CK20). One case showed positive cytoplasmic reaction for thyroid transcription factor-1 (TTF-1). GCDFP15 was positive in all OM and almost all (seven of eight) were noted as non-immunoreactive for WT1. Although six cases of metastatic BC were positive for CK7 and negative for CK20, only four of them retain the same immunoprofile of their primary tumor for the metastatic ovarian lesions. Only one case out of eight showed weak and focal positivity for CA-125. Three cases were positive for mucin 1 (MUC1) and epithelial membrane antigen (EMA). CONCLUSIONS: The differential diagnosis between OM and primary ovarian cancer can be challenging for the pathologist as well and immunostaining is of help. GCFDP15 is the most specific for breast carcinoma. In contrast with the recent papers published in the literature, we detected TTF-1 cytoplasmic expression in invasive breast carcinoma by SPT24 clone.

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OBJECTIVE: To analyse the historical risk factors associated with preterm birth, and the potential benefit of correct prenatal care for prevention. METHODS: This prospective study was performed in 2011-12 at the Department of Obstetrics and Gynaecology, Dr. I. Cantacuzino Hospital, Bucharest, Romania, and comprised women who gave birth at the hospital during the study period. The pregnancy was considered clinically cared if a pregnant woman underwent the following exams: first trimester ultrasound, maternal serum tests, screening tests, second trimester ultrasound, and amniocentesis if deemed necessary. The women with multiple pregnancies (twins or more) were excluded. Data collection was conducted according to the guidelines of the Mother and Child Health Research Network. IMB SPSS 21 was used for data analyses. RESULTS: Of the 4,078 cases, the prevalence of preterm births was 477(11.7%). Women giving birth to preterm babies had significantly less prenatal visits during pregnancy compared to women giving birth at term (p<0.05). High body mass index for 34-36 gestational weeks, a previous history of spontaneous abortion, a family history of preterm births and smoking were the most important risk factors for preterm birth (p<0.05 each). CONCLUSIONS: The preterm delivery risk factors can be reduced at least partially by taking correct preventive measures during pregnancy.

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Interstitial cells of Cajal (ICCs) are located in various smooth muscle organs and act as pacemaker cells, or ensure neuromodulation or mechanosensory roles. The study aims to investigate functional states of human ICCs in morphogenesis, focusing on the anoctamin 1 phenotype. The investigation was performed in five late stage human embryos with lengths varying between 23 and 29 mm. Immunohistochemistry on paraffin embedded specimens was performed for a series of antibodies: a-smooth muscle actin (a-SMA), desmin, CD31, CD34, CD117/c-kit, DOG1, and nestin. Longitudinal and circular muscle layers were a-SMA1/desmin1/nestin1. An immature microvascular layer located in the inner submucosa was CD341/CD311/a-SMA1/ nestin1; endothelial tip cells were supporting active processes of sprouting angiogenesis. A CD341/CD31- mesenchymal network was found in the circular muscle layer. CD117/c-kit1 multipolar ICCs with dichotomizing processes were found mostly in the myenteric plexus layer; processes were configuring a network within the circular muscle layer where intramuscular ICCs were scarcely found. A strong DOG11 reaction was found for the ICCs of the myenteric plexus layer apposed on the outer surface of the circular muscle layer, and for the intramuscular ICCs. The evidence of a sublayer of DOG11 myenteric ICCs is suggestive for a subpopulation of ICCs being qualified for pacemaking at this early developmental stage.

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