Sexuality and quality of life of patients operated for Rokitansky syndrome Mayer Kuster Hauser.

INTRODUCTION: Rokitansky syndrome or Mayer Rokitansky Kuster Hauser (SRKMH) is a rare congenital malformation defined by uterovaginal aplasia. The aim of the treatment is to create a neovagina and restore sexual life. However, postoperative results in terms of sexual and overall quality of life of patients remain controversial. AIM: To evaluate the quality of life and sexuality of patients operated on for Rokitansky syndrome. METHODS: This was a retrospective and comparative study between two groups of patients. The first group consisted of patients who had undergone vaginoplasty as part of SRKMH. The second group was that of the controls. Control in terms of sexual function by the Ar FSFI (Arab FemaleSexualFunction Index) and quality of life by the SF36 (Short Forms Health Survey) were used in both groups. RESULTS: The average age of patients operated on for SRKMH was 22.53 years. Eighteen of these patients (60%) were sexually active at the time of the study. Patients operated on for SRKMH had a significantly lower Ar FSFI score compared to the control group. The two areas most affected were lubrication and pain. Likewise, patients who underwent vaginoplasty had a significantly lower SF 36 score compared to the control group. The psychological component was the most affected of the different components of quality of life. CONCLUSION: Sexual function and quality of life after vaginoplasty in the context of Rokitansky syndrome remains unsatisfactory despite the anatomical result.

Decreased fetal movement: Maternal characteristics and pregnancy outcome.

INTRODUCTION: Decreased fetal movement is a common reason for consultation. It can reveal an intrauterine death or fetal distress. AIM: To evaluate the epidemiological profile of decreased fetal movement and to identify the predictive factors of poor pregnancy outcome. METHODS: We performed a retrospective and descriptive study in the department of Maternity between January 2015 and December 2019 including patients hospitalized for decreased fetal movements. RESULTS: The study included 150 patients with a mean age of 30.7±5.8 years. The patients were primiparous in 45.3% of cases. The mean term of pregnancy was 37.17±2.97 weeks. Cardiotocography was pathological in 22.7% of patients. The delivery rate during the hospitalization was 87.3% with a mean term of 37.9±2.5 SA. Poor pregnancy outcome was noted in 22.1% of cases. The identified predictive factors of poor pregnancy outcome were: gestational term less than 37 weeks (ORa=9.42), insufficient prenatal care (ORa=2.85), delayed maternal reporting of decreased fetal movement (ORa=1.29), complications during pregnancy (ORa=3.01), small symphysiofundal height for gestational age (ORa=6.17), pathological cardiotocography (ORa=1.66), fetal growth restriction (ORa=6.17), abnormal Umbilical Artery Doppler (ORa=6.51). CONCLUSION: Decreased fetal movement can be a false alarm but it is important to identify predictive factors of poor pregnancy outcome to recognize patients at increased risk and optimize their management.

HPV16 E2 variants correlated with radiotherapy treatment and biological significance in cervical cell carcinoma.

Specific genetic mutations in human papillomavirus type 16 (HPV16) DNA are considered important in cervical lesion progression. This study analyzes to what extent radiotherapy treatment contributes to viral DNA mutation in cervical cell carcinomas, and the biological significance of these mutations. Serial tumor tissue, including 44 cervical cancer samples, collected before and after radiotherapy, and 52 biopsies with benign cervices, were tested and analyzed for the presence of HPV16, and for the integrity of the E2 gene. Analysis was performed with polymerase chain reaction (PCR), and a bidirectional sequencing assay was performed to find HPV16 E2 gene variants. HPV16 E2 accounted for 81.8% and 37.5% among tumor and benign cervices respectively (p = 0.02). The incremental number of DNA mutations was associated with radiotherapy treatment. Most E2 gene mutations involved regions encoding the amino-terminal and carboxy-terminal regions of E2 in the tumor irradiated samples. Amino acid changes T135 K, A143T, N203D and P208A in the amino-terminal region were the most common mutations across the irradiated samples. Rather, the mutations in the carboxy-terminal region (T3694A and T3805G) were synonymous changes. Specific nucleotide deletions were detected in the hinge domain, at positions 3455A > -, 3466 T > -, and 3501A > -. The mutation degree is influenced by the irradiation modalities, interestingly E2 sequence mutation being found widely after radiotherapy treatment with a total fractioned dose of 50 Gy (p = 0.004). E2 mutation has predictive and biological significance in cervical cancer patients receiving curative radiation therapy. Possibly, E2 mutation could influence viral genome intactness and could serve as an intrinsic marker for cervical cancer.

Vulvar cancer in Tunisia: Epidemiological and clinicopathological features multicentric study.

OBJECTIVE: To describe for the first time the epidemiologic and clinico-pathologic characteristics of vulvar cancer in Tunisia. DESIGN: Two parts are distinguished in this study: Part1: Multicentric retrospective study about the characteristics of all cancer cases diagnosed during a 17-years period (January 1998-December 2014) in three departments of Gynecology and Obstetrics: one in south Tunisia and two in the capital. Part 2: To determine the Incidence trend of invasive vulvar cancer in North Tunisia 1994-2009, on the basis of North Cancer Registry of Tunisia. RESULTS: A total of 76 cases of vulvar cancer were recorded. The median age at diagnosis was 65.4years and 86.9% of patients were more than 55years old. The symptomatology was dominated by vulvar pruritus in 48.7%. The average size of the tumor was 3.96cm. Stage III was the most frequent (53.7%) followed by stage II (28.3%). Only 10.4% of tumors were at stage I. The most common histologic type of vulvar malignancy was squamous cell carcinoma (SCC) (94.7%). Standardized incidence varied from 1.2/100 000 (1994) to 0.5/100 000 (2009). There was significant decrease of Standardized incidence (APC of -8.8% per year, 95% CI: -5.5%, -9.0%-p<0.001). CONCLUSION: Vulvar cancer in Tunisia is a rare disease, occurs mostly in elderly women, and is diagnosed at advanced stages. Our findings emphasize that a greater effort should be made to facilitate early diagnosis, as treatment in earlier stages is less extensive and potentially curative.

Correlation between umbilical resistance index and fetal growth: Pilot study.

AIM: To investigate normal pregnancies to determine whether there is a relationship between umbilical resistance and fetal growth. METHODS: This prospective study was conducted in three academic departments. Third trimester routine prenatal ultrasonography was used to estimate fetal weight and measure umbilical resistance index (RI). After delivery the birthweight was noted, along with the time interval between the ultrasound and the delivery, and then the weekly weight gain was calculated. These data were then used to determine the relationship between fetal growth and umbilical artery RI. RESULTS: Mean patient age was 32 ± 4.8 years; mean RI was 0.62 ± 0.07, and mean weight gain was 186.4 ± 63.9 g/week. Mean percentage weight gain relative to the estimated weight on third trimester ultrasound was 8.86 ± 3.8% per week. There was an inverse linear relationship between umbilical artery RI and fetal growth: percentage of weight gained per week relative to the estimated weight during third trimester ultrasound (%/week) = [31.3 - (36.1 × RI)] × 100. CONCLUSION: In normal pregnancies there seems to be a linear relationship between umbilical RI measured at 31-34 weeks of gestation and average fetal growth in the third trimester. The greater the resistance index, the lower the weight gain.

[Early postpartum discharge: outcomes and risk factors of readmission]. / Sortie précoce en post-partum: résultats et facteurs de risque de ré hospitalization.

The objective of this study is to evaluate the practice of early postpartum discharge by analyzing maternal readmission rates and identifying readmission risk factors. This is a prospective and analytical study of 1206 patients discharged from hospital on postpartum day 1. For each patient we collected the epidemiological data, the course of pregnancy and childbirth. We identified the causes of readmission and their evolution. Cesarean delivery rate was 42%. Maternal readmission rate was 0.99%. The average length of stay in hospital after readmission was 26 hours. Intestinal transit disorders were the most frequent reason for consultation (50% of cases) followed by fever (25% of cases). The readmission risk factors identified in our study were: cesarean section (p = 0.004), emergency cesarean section (p = 0.016) anemia (P < 0.001) and thrombopenia (p = 0.003). Early postpartum discharge seems a safe option for the mother and their newborn children subject to the ability to clearly communicate health information to the patient and to the compliance with selection criteria.

[Leiomyoma of the bladder causing the destruction of a kidney]. / Léiomyome vésical entraînant la destruction d'un rein.

Leiomyoma of the bladder is a rare benign tumor deemed to have a good prognosis after surgical treatment. This is unfortunately not always true. We report the case of a 33 year-old patient who consulted for lumbar pain on right side. Exploration of patient revealed bladder floor solid tumor with non-functioning right kidney and left urinary tract dilation. Cystoscopy objectified solid tumor of the right perimeatal bladder. Tumor biopsies were performed together with the insertion of a left double J stent. Anatomo-pathologic study showed leiomyoma of the bladder. The patient underwent laparoscopic myomectomy. The postoperative course was uneventful. Pathological effect and sequelae was complete distruction of kidney.

[Neu-Laxova syndrome: Three case reports and a review of the literature]. / Syndrome de Neu-Laxova : rapport de trois cas et revue de la littérature.

INTRODUCTION: The Neu-Laxova syndrome (NLS) is a rare autosomal recessive and early lethal disorder. It is characterized by severe intra-uterine growth retardation, abnormal facial features, ichthyotic skin lesions and severe central nervous system malformations, especially microlissencephaly. Others characteristic features associated with fetal hypokinesia sequence, including arthrogryposis, subcutaneous edema and pulmonary hypoplasia, are frequently reported in NLS. PATIENTS AND METHODS: The clinicopathological characteristics of NLS are described in three cases with striking prenatal diagnostic findings and detailed post-mortem examinations. A review of the literature is undertaken with a focus on molecular basis. RESULTS: We present three new patients with NLS: one stillbirth male and two female newborns, delivered at 29, 35 and 40 weeks of gestational age, respectively. Characteristic ultrasound findings included hydramnios, severe intra-uterine growth restriction, craniofacial and cental nervous system anomalies. The cytogenetic study, performed in one case, was normal. The post-mortem examination revealed characteristic abnormalities in all three cases, that allowed to make a prompt diagnosis of the NLS. Data from these patients suggest that the NLS represents a heterogeneous phenotype. This feature has been highlighted in the literature. CONCLUSION: The SNL is a lethal developmental disorder characterized by phenotypic heterogeneity with striking neurological defects. It is underpinned by genetic heterogeneity. It can be caused by mutations in all three genes involved in de novo L-serine biosynthesis: PHGDH, PSAT1 and PSPH. Hence, the NLS constitutes the most severe end of already known human disease, i.e. serine-deficiency disorder.

[Cœliac disease: a rare cause of recurrent miscarriages]. / La maladie cœliaque: une cause rare de fausses couches à répétition.

Cœliac disease is an autoimmune disorder associated with Gluten intolerance resulting in progressive destruction of the villi of the small intestine. Symptoms are very diverse and can occur at any age. Abortive illness is a rare symptom leading to the detection of cœliac disease. We report the case of a patient with a history of 12 consecutive miscarriages whose etiology was finally related to cœliac disease.

[Macrosomia, shoulder dystocia and elongation of the brachial plexus: what is the role of caesarean section?] / Macrosomie, dystocie des épaules et élongation du plexus brachial: quelle est la place de la césarienne?

The delivery of a macrosomic infant is associated with a higher risk for maternofoetal complications. Shoulder dystocia is the most feared fetal complication, leading sometimes to a disproportionate use of caesarean section. This study aims to evaluate the interest of preventive caesarean section. We conducted a retrospective study of 400 macrosomic births between February 2010 and December 2012. We also identified cases of infants with shoulder dystocia occurred in 2012 as well as their respective birthweight. Macrosomic infants weighed between 4000g and 4500g in 86.25% of cases and between 4500 and 5000 in 12.25% of cases. Vaginal delivery was performed in 68% of cases. Out of 400 macrosomic births, 9 cases with shoulder dystocia were recorded (2.25%). All of these cases occurred during vaginal delivery. The risk for shoulder dystocia invaginal delivery has increased significantly with the increase in birth weight (p <10-4). The risk for elongation of the brachial plexus was 11 per thousand vaginal deliveries of macrosomic infants. This risk was not correlated with birthweight (p = 0.38). The risk for post-traumatic sequelae was 0.71%. Shoulder dystocia affectd macrosoic infants in 58% of cases. Shoulder dystocia is not a complication exclusively associated with macrosomia. Screening for risky deliveries and increasing training of obstetricians on maneuvers in shoulder dystocia seem to be the best way to avoid complications.

[The opening of the internal cervical os predicts cervical ripening better than Bishop's score in nulliparous women at 41 weeks gestation]. / L'ouverture de l'orifice interne du col prédit mieux l'issue de la maturation cervicale que le score de Bishop chez les nullipares à 41 semaines d'aménorrhée.

INTRODUCTION: The objectif was to evaluate ultrasound measurement of the opening of the internal cervical os in the prediction of cervical ripening and to compare it with Bishop's score. METHODS: We conducted a prospective study of 77 nulliparous women admitted to hospital in labor at 41w gestation, with Bishop's Score < 6, over a 10-month period, between July 2012 and April 2013. The measurement of the opening of the internal cervical os was performed using transvaginal ultrasound and Bishop's score was determined by clinical examination. All patients received prostaglandins for cervical ripening. RESULTS: Cervical ripening was successful among 63 patients (81%). Bishop's score and the opening of the internal cervical os were statistically associated with the success or failure of cervical ripening. The success rate of cervical ripening was 100% when the opening of the internal cervical os was equal to or greater than 5 mm (sensitivity: 54%, specificity: 86%). ROC curves showed that the measurement of the internal cervical os was more predictive of cervical ripening than Bishop's score (area under the curve: 0.733 and 0.704 respectively). CONCLUSION: Compared to Bishop's score, echographic measurement of the opening of the internal cervical os is more predictive of the success of cervical ripening in nulliparous women at 41 weeks of pregnancy with an unfavourable cervix.

[Confrontation between ultrasound and fetopathological examination following therapeutic abortion performed in a maternity clinic in Tunisia]. / Confrontation échographique et fœtopathologie après interruption thérapeutique de grossesse dans une maternité Tunisienne de référence.

This study aims to evaluate the value of prenatal ultrasound diagnosis by comparing it with the results of the fetopathological examination in case of therapeutic interruption of pregnancy for fetal indication. We conducted a retrospective descriptive and analytical study carried out over a three-year period from January 2013 to December 2015. It involved 66 fetuses autopsied after therapeutic interruption of pregnancy for fetal indication. Fetopathological examination confirmed ultrasound results in 63 cases (95.4%). In 18 cases (27.2%) there was a full match between the results of the prenatal diagnosis and those of the autopsy. Nine percent of fetal malformations were detected in the first trimester. The majority of malformations (72%) were detected in the second timester. Neurological malformations were the most frequent (60%), dominated by hydrocephalus and anencephaly. This study shows that, in our clinical context, even if ultrasound diagnosis is often non-exhaustive, its signs indicating the need for interruptions of pregnancy are correct. Fetopathological examination is used, in this case, to detect unknown malformations, making it possible to specify the diagnosis and to implement a strategy for subsequent pregnancies.

Antenatal Diagnosis of a Rare Neural Tube Defect: Sincipital Encephalocele.

Context. Fetal sincipital encephalocele is one of the most serious congenital neural tube defects with a high risk of mortality and neonatal morbidity. Prenatal diagnosis of this malformation is important in fetal medicine. Case Report. We report a case of prenatal diagnosis of sincipital encephalocele using ultrasound and MRI imaging. The diagnosis was done at 25 weeks of gestation by identifying an anterior cephalic protrusion through a defect in the skull. Conclusion. Through this case, we discuss the differential diagnosis, management, and prognosis of such lesions.

Sequence variation in the E2-binding domain of HPV16 and biological function evaluation in Tunisian cervical cancers.

HPV16 E2 variants have different effects on the transcriptional activity of the LCR. In this study, we examined the nucleotide and amino acid sequence variation within the HPV16 E2 gene and to correlate with disease progression. E2 gene disruption was detected by PCR amplification of the entire E2 gene using a single set of primers. Nucleotide variations were analyzed by bidirectional sequencing. mRNA expression patterns of E6 and E7 gene transcripts were evaluated by a reverse transcriptase-PCR method (RT-PCR). The detection of intact E2 genes was significantly higher among controls than cases (81.8% versus 37.5%, resp., P < 0.05). Among the E subgroup, variation at position 3684 C>A results in the amino acid substitution T310K and was more common among the E2 undisrupted cases (7/9; 77.7%), compared to controls (2/9; 22.2%). In addition, specific sequence variations identified in the E2 ORF at positions 3684 C>A were associated with increased viral oncogenes E6-E7 production. Besides HPV16 E2 disruption, the 3684 C>A variation within undisrupted E2 genes could be involved in an alternative mechanism for deregulating the expression of the HPV16 E6 and E7 oncogenes and appears to be a major factor contributing to the development of cervical cancer in Tunisian women.

HPV-16 E2 physical status and molecular evolution in vivo in cervical carcinomas.

A key event in the development of cervical carcinoma is the deregulated expression of high-risk human papillomavirus (HR-HPV) oncogenes, most commonly due to HPV integration into host DNA. Here we explored whether HPV-16 E2 gene integrity is a biomarker of progressive disease with oncogenes expression. HPV-16 genome disruption was assessed by amplification of the entire E2 gene, while mRNA expression patterns of the E1, E2, E6, and E7 genes were evaluated by reverse transcription PCR (RT-PCR). As expected, E2 disruption was significantly higher among patients with cervical cancers than subjects with benign lesions (p=0.02). The status of the E2 gene correlated with tumorogenesis, and seemed also to correlate with the stage of the carcinomas, since integrated HPV-16 DNA was frequently detected in patients with advanced cancer stages (75% of stage III vs 60% stages I and II). In bivariate analysis, the lesions’ grade was most significantly associated with HPV-16 DNA disruption (p<0.05). In cervical carcinoma the deletion pattern involved more frequently the E2 gene rather than the E1 gene (62.5% vs 45.8%). The prevalence of the E6/E7 HPV-16 transcripts in cervical carcinoma specimens and in benign cervical lesions were detected with frequencies of, respectively, 91.6% and 45.4%. The mRNA levels of the HPV-16 E6/E7 genes were expressed at approximately the same levels in each physical state. We consistently observed that E6/E7 were absent or weakly detectable in the presence of E2. However, in the absence of E2 the levels of E6/E7 markedly increased (p<0.05). This study underscores the significance of investigating alternative mechanisms of E2 expression and oncogenes E6/E7 transcripts in vivo as biomarkers for disease severity in cervical carcinomas.

Correlation between ebv co-infection and HPV16 genome integrity in Tunisian cervical cancer patients

Infection with high risk Human papillomavirus (HR-HPV) is necessary but not sufficient to cause cervical carcinoma. This study explored whether multiple HR-HPV or coinfection with Epstein-Barr virus (EBV) influence the integration status of HPV16 genome. The presence and typing of HPV in a series of 125 cervical specimens were assessed by polymerase chain reaction (PCR) using the specific primers for the HPV L1 region. As for EBV infection, the viral EBNA1 gene was used for its detection through PCR amplification. Disruption of the HPV E2 gene was assessed by amplification of the entire E2 gene with single set of primers, while E2 transcripts were evaluated by a reverse transcription PCR method (RT-PCR). The overall prevalence of HPVDNA was of 81.8% in cervical cancers versus 26.9% in benign lesions. In HPV positive cases, HPV16 and HPV18 were the most prevalent types, followed by HPV types 33, 31. EBV EBNA1 prevalence was statistically more frequent in cervical carcinomas than in benign lesions (29.5%, vs 9.6%; P=0.01). No viral infection was detected in healthy control women. The uninterrupted E2 gene was correlated with the presence of E2 transcripts originating from the HPV episomal forms. It was observed that integration was more common in HPV18 and EBV coinfection. The presence of EBV caused a five-fold [OR= 5; CI= 1.15-21.8; P = 0.04] increase in the risk of HPV16 genome integration in the host genome. This study indicates that EBV infection is acting as a cofactor for induction of cervical cancer by favoring HPVDNA integration.

Correlation between ebv co-infection and HPV16 genome integrity in Tunisian cervical cancer patients.

Infection with high risk Human papillomavirus (HR-HPV) is necessary but not sufficient to cause cervical carcinoma. This study explored whether multiple HR-HPV or coinfection with Epstein-Barr virus (EBV) influence the integration status of HPV16 genome. The presence and typing of HPV in a series of 125 cervical specimens were assessed by polymerase chain reaction (PCR) using the specific primers for the HPV L1 region. As for EBV infection, the viral EBNA1 gene was used for its detection through PCR amplification. Disruption of the HPV E2 gene was assessed by amplification of the entire E2 gene with single set of primers, while E2 transcripts were evaluated by a reverse transcription PCR method (RT-PCR). The overall prevalence of HPVDNA was of 81.8% in cervical cancers versus 26.9% in benign lesions. In HPV positive cases, HPV16 and HPV18 were the most prevalent types, followed by HPV types 33, 31. EBV EBNA1 prevalence was statistically more frequent in cervical carcinomas than in benign lesions (29.5%, vs 9.6%; P=0.01). No viral infection was detected in healthy control women. The uninterrupted E2 gene was correlated with the presence of E2 transcripts originating from the HPV episomal forms. It was observed that integration was more common in HPV18 and EBV coinfection. The presence of EBV caused a five-fold [OR= 5; CI= 1.15-21.8; P = 0.04] increase in the risk of HPV16 genome integration in the host genome. This study indicates that EBV infection is acting as a cofactor for induction of cervical cancer by favoring HPVDNA integration.