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Biomedical subjects

C Baykal

Publications and source records attributed to C Baykal.

At least 19 recordsLinked to original sources

High frequency of thrombophilic disorders in women with recurrent fetal miscarriage.

OBJECTIVES: Our purpose was to examine whether genetic thrombophilias are etiological factors for recurrent fetal miscarriage or not. STUDY DESIGN: We compared the rate of thrombophilic anomalies in women with unexplained recurrent fetal miscarriages to the rate of age-matched women with successful pregnancies as a case-control study. RESULTS: A total of 101 consecutive patients with 102 age-matched controls were included in the study. The rate of Factor V (FV) Leiden mutation, Factor (F) II mutation, protein S, protein C, antithrombin III deficiencies and overall thrombophilia in patients with recurrent fetal loss was significantly higher than the frequencies in control patients. CONCLUSION: Women with recurrent fetal miscarriages have an increased incidence of thrombophilia. Genetic thrombophilias may be one of the major etiological factors for recurrent abortion and fetal demise.

Abortion, Habitual↗

High-grade neuroendocrine carcinoma of the cervix. A case report.

Neuroendocrine tumor of the uterine cervix is a rare and aggressive malignancy. Despite controversial, multimodal treatment methods, prognosis and treatment outcomes are worst in advanced stages. We report an early-stage case treated with the multimodal approach. The nomenclature proposed for this tumor type in 1997 by the College of American Pathologists still has some points of discussion. As in our case some of the tumors cannot be defined exactly into small or large cell types, and this causes confusion at least for nomenclature purposes. A 'mixed' type for this tumor may be appropriate.

Adult↗

Restaging in gynaecological cancers.

Regardless of recent technical developments in the scientific arena, stage is still the most important prognostic factor in gynaecological cancers. Surgical staging is performed in all types of gynaecologic cancers except for cervical cancer. Adjuvant therapies that contribute to survival are planned in the light of information obtained from staging procedures. Therefore, necessary information for further therapeutic management should be revealed by the end of surgical staging. A staging surgery that is not completed for any reason will not only deprive the patient of necessary treatments, but can also cause administration of unnecessary adjuvant treatments. This is especially important, given the undesired effects and cost of both chemotherapy and radiotherapy. A particularly relevant case in point is tumours that look like early stage; this is because upstaging up to 30% has been reported in ovarian and endometrial cancers. As for vulvar cancer, clinical staging has been reported to lead to about 15% over-diagnosis in comparison to surgical staging. Thus, the first step in all gynaecological cancers, except cervical cancer, should be to perform surgical staging when possible and unveil all surgical-pathological prognostic factors in the light of data obtained. Accordingly, restaging surgery should be considered in all cases that had incomplete staging. However, care should be taken to evaluate the benefits to be reaped together with the operative morbidity risk associated with the restaging procedure. This will both ensure accurate planning of postoperative treatment and provide a universal standard of approaching cancer patients and their treatments.

Female↗

46 XX male syndrome: a case report.

INTRODUCTION: 46 XX male syndrome (de la Chapelle syndrome) is a rarely seen genetic disorder causing male infertility. It is generally a result of unequal crossing over between X and Y chromosomes. CASE REPORT: A 26-year-old infertile male was referred to the Urology Department. He had normal external male genital phenotype and secondary sex characters. No gynecomastia was noted. At physical examination soft and atrophic testes were palpated. Laboratory analysis and testis biopsies indicated nonobstructive azospermia. Chromosomal analysis showed 46 XX karyotype. CONCLUSION: In the literature, there are various phenotypic properties of 46 XX male patients. Thus, translocation of the sex determining region (SRY) the gene probably cannot be the only reason for XX male syndrome. There might be some other abnormalities leading to de la Chapelle syndrome.

Adult↗

Fibrocystic disease of vulvar ectopic breast tissue. Case report and review of the literature.

INTRODUCTION: Mammary glands located in the vulvar region have been named as ectopic breast tissue or anogenital mammary glands by different authors. Literature on pathologies of ectopic breast tissue located in the vulvar region is rare. Most of the reports are about the malignancies arising from this ectopic tissue. CASE REPORT: We report a case of fibrocystic disease of the mammary glands in the vulva in a 25-year-old pregnant woman. Her disease was exaggerated during pregnancy. CONCLUSION: Ectopic breast tissue in the vulva is a rare entity and fibrocystic disease of this tissue has rarely been reported in the English literature.

Adult↗

Primary choriocarcinoma of the uterine cervix in a postmenopausal patient: a case report.

BACKGROUND: Primary cervical choriocarcinoma seen in a postmenopausal patient is a very rare entity. CASE: Primary choriocarcinoma of the uterine cervix was diagnosed in a 54-year-old woman. She had admitted to our clinic with vaginal bleeding and had been postmenopausal for 1 year at the time of diagnosis. A cervical tumoral mass was seen in her pelvic examination and cervical biopsy revealed squamous cell carcinoma of the cervix. Pelvic examination under anesthesia was done and patient was accepted as FIGO Stage IIA. Type III hysterectomy with bilateral salphingoopherectomy and bilateral pelvic-paraaortic lymph node dissection was carried out. Postoperative pathological evaluation of the surgical specimen showed that case was a primary choriocarcinoma of the cervix. CONCLUSION: This is one of the few reported cases of cervical choriocarcinoma in a postmenopausal patient. The most appropriate theory for the development of this tumor is metaplastic differentiation of the tumor from another histologic type.

Choriocarcinoma↗

Dyskeratosis congenita associated with three malignancies.

Dyskeratosis congenita is a rare inheritable disorder characterized by abnormalities of the skin, nails and oral mucosa. Aplastic anaemia resulting from bone marrow hypoplasia is a frequent cause of death. Squamous cell carcinoma developing from leukoplakia and visceral malignancies are other complications of the disease. We report here a case of dyskeratosis congenita in a man who developed three neoplasias of different systems over a period of many years. Squamous cell carcinoma and gastric adenocarcinoma manifested 17 years after the man was diagnosed with Hodgkin's disease.

Adenocarcinoma↗

The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family.

Dominant mutations in the GJB2 gene encoding connexin 26 (Cx26) can cause non-syndromic hearing impairment alone or in association with palmoplantar keratoderma (PPK). We have identified the novel G224A (R75Q) mutation in the GJB2 gene in a four-generation family from Turkey with autosomal dominant inherited hearing impairment and PPK. The age of onset and progression of hearing loss were found to be variable among affected family members, but all of them had more severe impairment at higher hearing frequencies. Interestingly, the novel R75Q mutation affects the same amino acid residue as described recently in a small family (R75W) with profound prelingual hearing loss and PPK. However, the R75W mutation was also observed in a control individual without PPK and unknown hearing status. Therefore, the nature of the R75W mutation remains ambiguous. Our molecular findings provide further evidence for the importance of the conserved R75 in Cx26 for the physiological function of the inner ear and the epidermal cells of the skin.

Amino Acid Substitution↗

Palmoplantar keratoderma and oral leucoplakia with cutaneous horn of the lips.

The inherited palmoplantar keratodermas (PPK) may be associated with a wide variety of other ectodermal abnormalities. The coexistence of PPK and leucoplakia may indicate the increased risk of oesophageal carcinoma in adult life. Cutaneous horn may develop over benign, precancerous, as well as malignant lesions, and frequently may be associated with actinic keratoses and Bowen's disease. On the other hand, the relationship of cutaneous horn and leucoplakia has been the subject of only a single case report. We present a case of PPK and diffuse oral leucokeratosis associated with relapsing cutaneous horn of the lips.

Adult↗