The 3020insC allele of NOD2 predisposes to early-onset breast cancer.

The NOD2 gene has been associated with susceptibility to Crohn's disease, and more recently with carcinoma of the colon as well. NOD2 is involved in the inflammatory response and the activation of the NFkB pathway. The range of cancer types associated with NOD2 has not been well studied. The 3020insC allele results in a truncated NOD2 protein and is present in approximately 7% of the population. We studied a possible association between the 3020insC allele of the NOD2 gene and breast cancer using 462 cases and 1910 controls from Poland. Patients were diagnosed with invasive breast cancer at are of two Szczecin regional hospitals between 2002 and 2004. Pathology specimens were reviewed for histological subtype and for the presence of ductal carcinoma in situ (DCIS). Overall there was no association between breast cancer and NOD2 (OR = 1.1; p = 0.76), but significant associations were observed between the presence of the allele and early-onset breast cancer (OR = 1.9; p = 0.01) and between the allele and ductal breast cancer with an in situ component (OR = 2.2; p = 0.006).

[Uterine myomas in pregnancy]. / Miesniaki macicy w ciazy.

In this paper different views regarding the diagnosis and management of uterine myomas during pregnancy, delivery and puerperium are presented. A review was done of the complications which may develop during pregnancy depending on the sizes of the myomas and their localization in relation to the placenta. Indications for operative management of uterine myomas, given by various authors are presented. Controversies connected with enucleation of uterine myomas in pregnancy are described. Indications, contraindications as well as possible complications regarding enucleation of uterine myomas in pregnancy which appear in the bibliography are presented. An analysis was done of the possible dangers which threaten women with uterine myomas during puerperium. On the basis of our own experience, the authors are of the opinion that only abiding by the indications for enucleation of uterine myomas in pregnancy and during caesarean sections, can bring about good results. Management of women who have uterine myomas must be cautious and devoid of routine.

[Stromal sarcoma in pregnancy--a case report]. / Miesak podscieliska w ciazy--opis przypadku.

In this paper a case of a young pregnant woman with a uterine tumour of 9 cm in size, which was diagnosed as leiomyoma is presented. The patient was delivered at 33 weeks through caesarean section, during which abdominal viscera were found to be normal. Due to the size of the tumour, as well as its localisation--in the uterine wall in the vicinity of the big uterine vessels--an operation to excise it was postponed until after the puerperium period was over. After a few weeks the patient developed intensive abdominal pains. A computer tomography scan was done in which apart from swelling of the retroperitoneal lymph nodes, metastatic type changes in the lungs were also observed. Suspicion of a malignant uterine tumour was confirmed during operation, however due to the extensive progress of the disease a radical operation was not possible. In the histopathological examination stromal sarcoma was revealed. In spite of attempts at using chemotherapy and hormonotherapy no positive effect was achieved. Rapid development of the sarcoma led to the death of the patient after 4 months.

[Congenital absence of the vagina--its diagnostic-therapeutic implications--case report]. / Wrodzony brak pochwy--implikacje diagnostyczno-terapeutyczne--opis przypadku.

Issues relating to diagnosis and reconstructive therapy for developmental anomalies of female genital tract are controversial. The teratogenic influence during the 6th week of intrauterine life, the time for the development of structures such as fallopian tube, uterus and cervix from the Müllerian duct may lead to their defective formation. In a 14 year old girl congenital absence of vagina, cervix developed right half of uterus (rudimentary horn?) and a pelvic kidney was diagnosed by laparoscopy and laparotomy. The attempt to connect uterus with the artificial vagina during the laparotomy was unfortunately not successful, the main reason being prolonged distance between the apex of artificial passage and the rudimentary uterus. In our opinion ultrasound is a superior diagnostic tool for diagnosis of developmental anomalies in comparison to the palpatory methods. The corrective and reconstructive surgery for the developmental anomalies of the female genital tract should be the domain of a specialized center. Increased awareness of the parents and the public, increase in environmental pollution has led to more frequent and earlier diagnosis of these malformations, which in turn has led to the shift in age for therapeutic interventions.