Subtelomeric rearrangements in patients with recurrent miscarriage

Background: The subtelomeric rearrangements are increasingly being investigated in cases of idiopathic intellectual disabilities [ID] and congenital abnormalities [CA] but are also thought to be responsible for unexplained recurrent miscarriage [RM]. Such rearrangements can go unnoticed through conventional cytogenetic techniques and are undetectable even with high-resolution molecular cytogenetic techniques such as array comparative genomic hybridization [aCGH], especially when DNA of the stillbirth or families are not available. The aim of the study is to evaluate the rate of subtelomeric rearrangements in patients with RM

Materials and Methods: In this cross-sectional study, fluorescent in situ hybridization [FISH], based on ToTelVysion telomeric probes, was undertaken for 21 clinically normal couples exhibiting a "normal" karyotype with at least two abortions. Approximately 62% had RM with a history of stillbirth or CA/ID while the other 38% had only RM

Results: FISH detected one cryptic rearrangement between chromosomes 3q and 4p in the female partner of a couple [III:4] [46,XX,ish t[3;4][q28-,p16+;p16-,q28+][D3S4559+,D3S4560-,D4S3359+; D3S4560+, D4S3359- ,D4S2930+]] who presented a history of RM and family history of ID and CA. Analysis of the other family members of the woman showed that her sisters [III:6 and III:11] and brother [III:8] were also carriers of the same subtelomeric translocation t[3;4][q28;p16]

Conclusion: We conclude that subtelomeric FISH should be undertaken in couples with RM especially those who not only have abortions but also have had at least one child with ID and/or CA, or other clinically recognizable syndromes. For balanced and cryptic anomalies, subtelomeric FISH still remains the most suitable and effective tool in characterising such chromosomal rearrangements in RM couples

[Conserving surgery for breast cancer]

Breast cancer is the first women's cancer. Conserving surgery associated with radiotherapy, is in progress. Her indications are frequent. The result local control and global survival am the same as radical surgery

Local Regional Recurrance of Breast cancer in Tunisian Center

To evaluate locoregional recurrence rate of breast cancer, determine its anatomoclinical characteristics and discuss the available therapeutic alternatives. Patients and methods A retrospective study including 41 patients with LRR following modified radical mastectomy or conservative surgery of invasive breast carcinoma without metastasis, between January 1993 and December 2002. 38 cases of LRR occurred after mastectomy and 3 cases after conservative surgery. LRR rate was 4.84%. mean follow-up 44.7 months. Mean age of patients was 45 years and LRR mean occurrence time-interval 22.4 months. Recurrence was parietal in 25 cases, mammary in 2 cases, and nodal in 14 cases. 18 patients had to be operated on. Conclusion Prognosis of breast cancer depends on distant metastasis. LRR constitutes the second major risk liable to influence the overall prognosis

[Recurrent hydatidiform mole. About a case with 9 sucessive molar pregnancies]

The recurrent hydatiform mole is rare, its frequency is lower to 1%. We report the observation of a 28 years old women, without antecedents of molar pregnancy in the family and without considerable pathological antecedents. She had 9 successive molar pregnancies, without inset normal pregnancy and without living chilfren. The delay of at least 1 year between the gestations has been respected in 6 pregnancies. The etiologic balance in particular the caryotypes of parents is normal. The aurthors debate the etiopathogenic and prognostic factors of this pathology

[Ovary teratoma_Report of 91 cases]

To analyse the clinical and anatomic aspects of cystic treatomas of the ovary, carcteristics of patients having cystic teratomas and the masnagement trends at our institution. Retrospective study of 91 cases of cystic teratomas of the ovary diagnosed and treated at Farhat-Hached Hospital [Sousse] between 1 january 1995 and 30 june 2003. Cystic teratomas constituted 12.13% of all ovarian tumors diagnosed and treated at our institutation during the study period. The median of age was 33.35 ans. Abdominal or pelvic pain was the most frequent symptoms for presentation in 67% of the cases. In addition; incidental finding was noted in 25.3% of the cases and swelling in 23% of the cases. The mean tumor diameter was 10 cm. The rate of bilateral cystic teratomas of the ovary was 14.3%. 19.8% of cystic teratomas has occurred in pregnancy. The operative video-laparoscopy was employed in 9 cases, laparotomy was employed in 82 cases. Histopathological evaluation has detected 96.7% cases of mature teratomas, and 3.3% cases of immature teratomas. Cystic teratomas are the most common ovarian neoplasm, that occurs most commonly during the reproduce years. The operative laporoscopy is the most common modiality of treatment of mature cystic teratomas. Immature teratomas must be treated by laparotomy associated if necessary to chimiotherapiy

[Pronostic factors in squamous cell carcinoma of the vulva. about 35 cases]

To evaluate the pronostic factors of the vulvar cancer. This is a retrospective study, of 35 cases of squamous cell carcinoma of the vulva diagnosed and treated at Farhat Hached Hospital [Sousse] between January 1991 and December 2002. The study of the pronostic factors is based on analysis of the following parameters obtained after a period varying from 6 months to 5 years: clinical data, pre-therapeutique and therapeutic evaluation, pathologic data, outcome and survival rate. The diagnostis was often late with a delay for consultation superior to 6 months in 60% of cases. 80% of the patient were in stages III and IV of FIGO with an average tumorous size of 3.8 cm and palpable lymph node in 74.2% of the cases. 22 patient underwent vulvectomy with bilateral inguinal node dissection. Adjuvant therapy was carried out in 8 cases. The rate of relapses was 22.7%. The global survival at 5 years of the operated patients was of 40%. The main prognostic factors were: the size tumorale, the degrees of stromal invasion and the lymph node invasion. Early detection fo vulvar cancer by regular gynecologic examinations and a biopsy of all suspect lesions, allows an early treatment consequenlly a better prognosis

[Knowledge, attitude and behavior about the inherited population to cancer. A survery of a population without any history of cancer in central Tunisia]

The genetic bases of inherited predisposition to cancer are now established. The aim of our study is to value the knowledge, attitude and behavior of the general population about the inherited predisposition to cancer. Our study involved a population of 200 individuals. without any history of cancer. The mean age of our population was 37.5 years [18 to 74 years]. The education level was low in 62.5% of cases [Illiterate or primary education]. About knowledge heredity was considered a predisposing factor to cancer by 42.5% of the respondents. About attitude: we noted a cancerophobia in 82% of cases. 86.5% of our respondents thought that an early diagnosis increased the chance of recovery. About behavior: 72.5% of the studied population wished to know if they were predisposed to develop cancer. In case of pregnancy 79% wished to know if the foetus was a cancer gene predisposition carrier. 28% would keep this foetus in case of positive genetic testing. These results are encouraging to develop ontogenetic counselling in Tunisia