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Telomere erosion may be counteracted by telomerase. Here we explored telomere length (TL) and telomerase activity (TA) in primary cutaneous T-cell lymphoma (CTCL) by using quantitative polymerase chain reaction and interphase quantitative fluorescence in situ hybridization assays. Samples from patients with Sézary syndrome (SS), transformed mycosis fungoides (T-MF), and cutaneous anaplastic large cell lymphoma were studied in parallel with corresponding cell lines to evaluate the relevance of TL and TA as target candidates for diagnostic and therapeutic purposes. Compared with controls, short telomeres were observed in aggressive CTCL subtypes such as SS and T-MF and were restricted to neoplastic cells in SS. While no genomic alteration of the hTERT (human telomerase catalytic subunit) locus was observed in patients' tumor cells, TA was detected. To understand the role of telomerase in CTCL, we manipulated its expression in CTCL cell lines. Telomerase inhibition rapidly impeded in vitro cell proliferation and led to cell death, while telomerase overexpression stimulated in vitro proliferation and clonogenicity properties and favored tumor development in immunodeficient mice. Our data indicate that, besides maintenance of TL, telomerase exerts additional functions in CTCL. Therefore, targeting these functions might represent an attractive therapeutic strategy, especially in aggressive CTCL.

Germline mutations in the cyclin-dependent kinase inhibitor, CDKN1B, have been described in patients with multiple endocrine neoplasia (MEN), a cancer predisposition syndrome with adult onset neoplasia and no additional phenotypes. Here, we describe the first human case of CDKN1B deficiency, which recapitulates features of the murine CDKN1B knockout mouse model, including gigantism and neurodevelopmental defects. Decreased mRNA and protein expression of CDKN1B were confirmed in the proband's peripheral blood, which is not seen in MEN syndrome patients. We ascribed the decreased protein level to a maternally derived deletion on chromosome 12p13 encompassing the CDKN1B locus (which reduced mRNA expression) and a de novo allelic variant (c.-73G>A) in the CDKN1B promoter (which reduced protein translation). We propose a recessive model where decreased dosage of CDKN1B during development in humans results in a neuronal phenotype akin to that described in mice, placing CDKN1B as a candidate gene involved in developmental delay., (© 2013 Wiley Periodicals, Inc.)

Aim: To analyze the clinical characteristics and to evaluate the different factors that influences the prognosis of the peripartum cardiomyopathy (PPCM)., Methods: A retrospective review was undertaken on records of women who were diagnosed with peripartum cardiomyopathy at Farhat Hached Hospital (Sousse) between January 1992 and December 2004., Results: Clinically, PPCM shows pulmonary symptoms such as dyspnea and tachypnea. The diagnosis is established by echocardiography that showed decreased systolic function of the left ventricular. Both gynecologist and cardiologist must check the patients regularly. No patient died. Three preterm pregnancies occured with 9 health newborns (2 sets of twins). One miscarriage took place. PPCM is often undetected or misdiagnosed because of the low incidence and the unspecific symptoms. The treatment is also unspecific and similar to dilated cardiomyopathy or acute cardiac failure., Conclusion: Early diagnosis of the peripartum cardiomyopathy is extremely important. Pregnancy in patients with dilated cardiomyopathy is associated with maternal and fetal morbidity. Left ventricular function is a prognostic factor and must be the most parameter when conseling patients with peripartum cardiomyopathy about a new pregnancy.

The authors report the third published case of hydatid disease of the spermatic cord and describe its unusual presentation in the form of hydrocele. Hydatid disease is endemic to some countries, where it constitutes a real public health problem. It can affect all organs of the body. However, primary involvement of the spermatic cord is exceptional. Implantation of the hydatid larva is essentially haematogenous. The positive diagnosis is based on ultrasound. Eosinophilia is neither constant nor specific and only contributes to the diagnosis when it is positive. However positive hydatid serology has a diagnostic and prognostic value. Resection of the roof of the cyst is the treatment of choice.

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 pregnancies and without living children. 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 authors debate the étiopathogénic and prognostic factors of this pathology.

Objective: To analyse the clinical and anatomic aspects of cystic teratomas of the ovary, caracteristics of patients having cystic teratomas and the management trends at our institution., Study Design: 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., Results: Cystic teratomas constituted 12.13% of all ovarian tumors diagnosed and treated at our institution during the study period. The median of age was 33.35 ans. Abdominal or pelvic pain was the most frequent symptom 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 in82 cases. Histopathological evaluation has detected 96.7% cases of mature teratomas, and 3.3% cases of immature teratomas., Conclusion: Cystic tertomas are the most common ovarian neoplasms, that occurs most commonly during the reproductive years. The operative laparoscopy is the most common modality of treatment of mature cystic teratomas. Immature teratomas must be treated by laparotomy associated if necessary to chimiothrapiy.

Our retrospective study was performed on 10 cases of granulomatous mastitis registered in Obstetric Gynaecology Department and Pathology Department of CHU F. Hached, Sousse, during 8 years period. The mean age was 36.4 years (range 32-59). Among these 10 cases. 8 were observed in reproductive-age women and 2 were noted in menopausal women. Clinical findings showed unilateral breast nodule associated with inflammatory signs in 4 cases, mammelonary retraction in 2 cases and serous or sero-purulent mamelonnary flow in 4 cases. Mamnmographic examination suggested a malignant tumor in 5 patients. In all cases, the diagnosis is made by histopathology. Surgical treatment consisted in wide excision with drainage or radical mastectomy, eventually with combination with antibiotic therapy and non steroid anti-inflammatory drugs. Prognostic features showed a good cicatrization in 4 cases, local recurrence and cutaneous fistulization in one patient. Granulomatous mastitis aetiology is still unclear, auto-immune aetio-pathogenesis appears more interesting and should be clarified.

The migration into the bladder of an intrauterine contraceptive device (IUCD) by uterine perforation is a rare complication. We report two cases of IUCD which migrated into the bladder and subsequently became calcified. The two patients having had their IUCD respectively for 3 and 13 years. Revealing signs were related to bladder irritation for the first patient and hematuria for the second. The diagnosis was suggested on the plain abdominal X-ray and on ultrasound and was confirmed by cystoscopy. Ballistic lithotripsy of the bladder stone with endoscopic extraction of the IUCD was then performed. Performing a transvaginal sonographic examination of the pelvic organs, especially of the uterine anatomy is interesting before insertion of an intrauterine contraceptive device (IUCD), and repeat transvaginal sonographic examinations immediately after the insertion and 4-12 weeks later are advisable. This approach would permit early detection of any complications related to insertion of the IUCD.

Objective: To evaluate locoregional recurrence rate of breast cancer, determine its anatomoclinical characteristies 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., Results: 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.

Objective: Our purpose was to determine the optimal management of pregnancies beyond 41 week's gestation with a cervix unfavorable for induction., Material and Method: All uncomplicated pregnancies that reached 41 weeks'gestation with a Bishop score of< or =4, were randomly assigned to one of two groups, Results: The duration of labor was shorter in the group "prépidil" compared with the control group (P=0.002). Identification of an unfavorable cervix at 41 weeks was unlikely to change by 42 weeks and cervical ripening was required in 40% cases. There was no significant difference in caesarean section rates. Rates of admission into the neonatal unit and fetal outcomes were similar in the two groups., Conclusion: Cervical ripening with prostaglandin gel at 41 week's gestation for uncomplicated singleton pregnancies is safe and should be advocated.

Formerly considered to be a salvage or last resort technique before nephrectomy, ureterocalicostomy can be indicated in certain well defined situations, when strictly dependent drainage of urine is essential. Due to its particular indications, this procedure is rarely performed and operators have limited experience. The authors report 17 cases of ureterocalicostomy performed in 16 patients: 8 cases obtained an excellent long-term result with absence of clinical signs, urinary tract infection and proximal dilatation of the neo-junction. 4 cases obtained a good result with resolution of clinical symptoms and bacteriological signs and improvement of the dilatation on intravenous urography. 3 cases obtained a poor result with persistence of clinical symptoms and dilatation on intravenous urography. 2 nephrectomies were subsequently performed 4 years and 10 years after ureterocalicostomy for non-functioning kidney and for chronic pyelonephritis.

Metastatic spread of advanced transitional cell bladder carcinoma rarely involves the skin. However, the presence of a skin metastasis indicates at least microscopic dissemination of cancer cells to the liver or lung, corresponding to a poor prognosis. The authors report a new case of single skin metastasis during the course of a poorly differentiated stage pT3a N0 M0 transitional cell bladder carcinoma. The patient died 5 months after the appearance of the skin metastasis.

Adrenal myelolipoma is a benign, non-secreting tumour, which can be complicated by pain or retroperitoneal haemorrhage. The diagnosis is based on CT or preferably MRI. Surgery may be necessary in the case of complications. The contribution of interventional radiology has not been reported in the literature and selective embolization has also not been previously reported.

Wilms tumour is an exceptional tumour in adults. This diagnosis, often histological, is generally established at a more advanced clinical stage than in children and the prognosis, for the same clinical stage, is comparatively poorer in adults. Treatment consists of radical nephrectomy and adjuvant chemotherapy and radiotherapy. The authors report a case of Wilms tumour in an adult treated by a combination of radical nephrectomy and adjuvant chemotherapy. The patient is currently in clinical remission with a follow-up of 2 years.

A case of ultrasonographic prenatal diagnosis of conjoined thoraco-omphalopagus twins is reported at the fifteenth week of amenorrhea. Ultrasonography is the only mean of antepartum diagnosis of conjoined twins; Several diagnostic criteria are recalled as well as etiopathogenic and epidemiological considerations of this rare malformation which may concern 1/15.000 to 1/100.000 pregnancies.