Association of xenobiotic-metabolizing genes polymorphisms with cervical cancer risk in the Tunisian population.

BACKGROUND: Host genetic characteristics and environmental factors interactions may play a crucial role in cervical carcinogenesis. We investigated the impact of functional genetic variants of four xenobiotic-metabolizing genes (AhR, CYP1A1, GSTM1, and GSTT1) on cervical cancer development in Tunisian women. METHODS: The AhR gene polymorphism was analyzed using the tetra-primer ARMS-PCR, whereas the CYP1A1 polymorphism genotypes were identified by PCR-RFLP. A multiplex ligation-dependent polymerase chain reaction approach was applied for the analysis of GSTM1 and GSTT1 polymorphisms. RESULTS: The homozygous A/A genotype of the AhR gene (rs2066853) and the heterozygous T/C genotype of the CYP1A1 SNP (CYP1A1-MspI) appeared to be associated with an increased risk of cervical tumorigenesis (ORa = 2.81; ORa = 5.52, respectively). Furthermore, a significantly increased risk of cervical cancer was associated with the GSTT1 null genotype (ORa = 2.65). However, the null GSTM1 genotype showed any significant association with the risk of cervical cancer compared to the wild genotype (ORa = 1.18; p = 0.784). Considering the combined effect, we noted a significantly higher association with cancer risk for individuals with at least two high-risk genotypes of CYP1A1/GSTT1 (ORa = 4.2), individuals with at least two high-risk genotypes of CYP1A1/GSTT1/AhR (ORa = 11.3) and individuals with at least two high-risk genotypes of CYP1A1/GSTM1/GSTT1/AhR exploitation low-risk genotype as a reference. CONCLUSION: This study indicated that the single-gene contribution and the combined effect of xenobiotic-metabolizing gene polymorphisms (AhR, CYP1A1-MspI, GSTM1, and GSTT1) may have a considerable association with increased cervical cancer risk.

Association between the ELAVL1 gene single nucleotide polymorphisms and the Genetic Susceptibility to cervical cancer by high resolution melting in a Tunisian population.

BACKGROUND: Human papillomavirus is the major cause of cervical cancer, but only few cases develop into cancer. Nevertheless, HuR (ELAVL1) gene has been implicated in the oncogenesis of certain cancers. The correlation between ELAVL1 gene and the risk of cervical cancer remains unclear. Therefore, this study investigated the effect of ELAVL1 gene polymorphisms (SNPs) in cervical cancer development in Tunisian women. METHOD: ELAVL1 gene SNPs: ELAVL1 rs12983784 T > C, ELAVL1 rs14394 T > C, ELAVL1 rs74369359 G > T, ELAVL1 rs35986520 G > A, ELAVL1 rs10402477 C > T, ELAVL1 rs12985234 A > G and ELAVL1 rs2042920 T > G, were genotyped by High resolution melting (HRM). SNPStats software was used to perform linkage disequilibrium (LD) and haplotype analysis. RESULTS: Comparing the cervical cancer patients with healthy control participants, the SNPs rs12983784 (P = 0.032), rs74369359 (p = < 10- 3) and rs10402477 (P = 0.001) were associated with an increased cervical cancer risk. Contrary to the SNPs rs14394, rs7469359, rs35986520, rs12985234 and rs2042920 (p˃0.05). The haplotype analysis of the seven SNPs of ELAVL1 gene showed that there is no association between the different haplotypes and a possible risk of cervical cancer disease. Moreover, there was a significant Linkage disequilibrium between rs35986520 and rs2042920 (D'=0.9972) and between rs2042920 and rs10402477 (D'=0.9977). CONCLUSION: Our results indicated that genetic variants in the ELAVL1 gene might be associated with susceptibility to cervical cancer in the Tunisian population.

[Transient thickening of the pituitary stalk followed by a supra-pituitary Langerhansian histiocytosis : consequence or mere coincidence ?] / Cas clinique. Épaississement transitoire de la tige pituitaire suivi d'une histiocytose langerhansienne supra-hypophysaire : conséquence ou simple coïncidence ?

One of the difficult challenges in endocrinology is the etiological diagnosis of isolated thickened pituitary stalk (PS). We report the case of a woman in whom a thickened PS was diagnosed following the onset of central diabetes insipidus revealed by polyuria-polydypsia syndrome of late pregnancy and postpartum. The pituitary exploration showed panhypopituitarism with disconnecting hyperprolactinemia. An etiological investigation for an inflammatory, granulomatous or tumour cause was carried out, but was negative. Postpartum lymphocytic hypophysitis was then retained. However, the course was puzzling with a control pituitary MRI showing disappearance of the PS thickening with paradoxical appearance of a supra-pituitary tumour, the biopsy of which concluded of being a Langerhansian histiocytosis. This paradoxical sequence is unusual and has not been reported before. It called into question the autoimmune lymphocytic origin of the thickened PS, initially considered, and raised the likelihood of a causal relationship between this PS thickening and Langerhansian histiocytosis.

Le diagnostic étiologique d'un épaississement isolé de la tige pituitaire (TP) constitue l'un des grands défis en endocrinologie. Nous rapportons le cas d'une patiente chez qui un épaississement de la TP a été diagnostiqué suite à la survenue d'un diabète insipide central révélé par un syndrome polyuro-polydypsique de fin de grossesse et du post-partum. Le bilan hypophysaire a montré un panhypopituitarisme avec une hyperprolactinémie de déconnexion. Une enquête étiologique à la recherche d'une cause inflammatoire, granulomateuse ou tumorale a été menée et s'est avérée négative. Une hypophysite lymphocytaire du post-partum a alors été retenue. Cependant, l'évolution a été déroutante avec, à l'IRM hypophysaire de contrôle, la disparition de l'épaississement de la TP et l'apparition paradoxale d'une tumeur suprahypophysaire dont la biopsie a conclu à une histiocytose langerhansienne. Cette évolution paradoxale est inhabituelle et n'a pas été rapportée auparavant. Elle a remis en question l'origine lymphocytaire auto-immune de l'épaississement de la TP, retenue initialement, et a soulevé la possibilité d'une relation de cause à effet entre cet épaississement de la TP et l'histiocytose langerhansienne.

Hypogonadism in hemodialysis patients: a first snapshot of prevalence and predictive factors in Tunisian patients.

Introduction: patients with chronic kidney disease commonly exhibit testosterone deficiency. We aimed through the current study to assess the prevalence and the risk factors of hypogonadism in male patients on hemodialysis and to establish their relationship with erectile dysfunction. Methods: we conducted a cross-sectional study based on data collected from hemodialysis male patients. Sociodemographic and clinical data as well as hormone levels were collected from January 2017 to December 2017. Sex hormones were measured in all subjects. The International Index of Erectile Function was used to evaluate erectile dysfunction. Data were expressed as mean ± standard deviation, and frequencies (number), and proportions (%). Results: one hundred and ten: 55 male hemodialysis patients were recruited. The level of follicule-stimulating hormone, luteinizing hormone and prolactin were high and the level of testosterone was low in the hemodialysis group. Hypogonadism was significantly linked to advanced age, anemia, and absence of treatment by erythropoietin. The incidence of erectile dysfunction was high and the erectile function score was low. Testosterone significantly dropped in patients with erectile dysfunction. Conclusion: hypogonadism was so prevalent in the hemodialysis men and it was associated with erectile dysfunction. Future studies are needed to determine the effect of testosterone therapy on erectile dysfunction.

Developing learning objectives in postgraduate medical education for family medicine (Tunisia).

Introduction-Aim: The third cycle of medical studies (TCMS) lasts 3 years for the specialty of family medicine (FM) in Tunisia. The members of the FM committee of the Faculty of Medicine of Monastir (FMM) aimed to detail the learning objectives (LO) of residents in FM. METHOD: We used the Delphi method in 2 rounds including a group of experts called FM Learning Objectives Writing Group (FMLOWG) at the FMM. The FMLOWG included 74 university hospital physicians and FM internship supervisors. These members actively participated in the 10 meetings held during the month of March 2022. Three points were discussed: the identification of LOs; the development of training titles and the proposal of the teaching methods to be adopted. The writing was subdivided into 5 domains of LO: transversal, public health, typical population and by system. RESULTS: We identified 1359 LOs for FM residency, for which 552 were LOs per system (40.5%). The learning included 618 training session titles. Residents will have an academic training day every 3 weeks during 9 months for each TCMS year. CONCLUSION: A detailed, MF-specific consensus has been developed by majority of medical specialties. It will be a learning base for learners, a reference for supervisors and TCMS teachers.

[Granulosa cell tumors: a study of 7 cases]. / Les tumeurs de la granulosa: a propos de 7 cas.

BACKGROUND: The granulosa tumors have been described for the first time in 1855 by Rokitansky. AIMS: To investigate the epidemiological and pathological characteristics of granulosa tumors, and the prognostic factors to determine therapy management. METHODS: Our study is retrospective about 7 cases of granulosa cells tumors treated and monitored at the department C of Gynecology and Obstetrics in the Center of Maternity and Neonatology of Tunis. RESULTS: The average age of our patients was 40 years. The circumstances of discovery are dominated by pelvic pain (3 cases); menometrorrhagia and post-menopausal bleeding (2 cases) and secondary amenorrhea (2 cases). The sonographic most frequent aspect was solido-cystic (3 cases). The final pathologic examination revealed 6 cases of granulosa adult type tumor and one juvenile type. Five tumors were classified as stage Ia, one tumor was stage Ic and one stage IIa. The treatment was conservative in most cases. An ilioobturator and para-aortic lymphadenectomy was performed in 3 cases. Two patients had adjuvant chemotherapy. Six patients were in complete remission at the last inspection. There were two cases of pregnancies carried till birth after surgical treatment. CONCLUSION: The granulosa tumors are characterized by their natural history with a slow and indolent character and their secretion of sex hormones.

[Borderline tumors : diagnosis and management : report of 10 cases]. / Les tumeurs borderlines : diagnostic et prise en charge. Apropos de 10 cas.

BACKGROUND: Since their discovery in 1929 by Taylor border tumors of the ovary, also known as borderline tumor (TOLM) inspired confusion, apprehension and disagreement. AIM: Identify epidemiological, clinical and therapeutic particularities of borderline tumors of the ovary. -Study the different surgical approaches for borderline tumors of the ovary. -Assess the value of frozen section in this pathology. METHODS: This is a retrospective study of 10 patients operated for borderline tumor of the ovary and collected at the department C of the center of maternity and newborn in Tunis. RESULTS: The average age of our patients was 35.6 years Pelvic pain was the main circumstance of discovery, it accounted for 50% of the cases. The discovery was fortuitous in 40% of the cases Ultrasound has shown purely cystic tumors in 70% of cases and solido-cystic ones in 30% of cases. There was a tumor in the controlateral ovary in only one case. The surgery was conservative whenever possible. Histological examination concluded to 6 cases of serous tumor and 4 cases of mucinous ones. Among the 10 patients, 8 were classified as stage Ia, one stage Ib and one stage Ic. The frozen section was performed in 8 cases CONCLUSION: The diagnosis of borderlines tumors of the ovary remains difficult. The laparoscopy is of great use in the management of this pathology. Histological examination is an interesting addition and the conservative treatment is the more appropriate treatment.

[IPartial molar pregnancy with liveborn diploid fetus: case study and literature review]. / Grossesse molaire partielle avec fœtus diploïde vivant: à propos d'un cas et revue de la littérature.

Partial hydatiform mole (MHP) represents a spectrum of trophoblastic-related disorders occurring during pregnancy. Also known as embryonal mole, it is characterized by a recognizable ovum abnormality with vesicular transformation of villi but with recognizable placental appearance and amniotic cavity containing the fetus. First-trimester spontaneous abortion most commonly suggests the diagnosis. Partial moles rarely persist beyond the first trimester and are then a cause of maternal and fetal complications and diagnostic confusion. MHP of genetic origin is triploid with extra chromosome of paternal origin. The coexistence of normal fetal karyotype and MHP is exceptional. We report a rare case of partial molar pregnancy with liveborn diploid fetus in a 36-year-old woman diagnosed with threat of premature labour associated with placenta previa at 27 weeks of amenorrhea (WA).

Prenatal diagnosis of caudal regression syndrome and omphalocele in a fetus of a diabetic mother.

The caudal regression syndrome is defined as total or partial agenesis of the sacrum and lumbar spine, frequently associated with other developmental malformations (orthopedic, neurological, genito-urinary, gastrointestinal…). Prenatal diagnosis is possible through fetal ultrasound (US) and magnetic resonance imaging (MRI). A case of fetal caudal regression syndrome with omphalocele from a diabetic mother is presented, demonstrating the sonographic, MRI, CT and X-Ray features diagnostic. We will also discuss neonatal findings, risk factors and prognosis of this condition.