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2.
Infect Agent Cancer ; 11: 61, 2016.
Article in English | MEDLINE | ID: mdl-27980608

ABSTRACT

BACKGROUND: Little is known about the epidemiological characteristics of papillomavirus (HPV) infection among North African countries. Herein, we conducted a molecular epidemiological study to investigate prevalence of HPV type and HPV-16 variants among cervical-screened unvaccinated Tunisian women. METHODS: Cross-sectional study was performed on 494 Tunisian women visiting Women's Healthcare Centers. HPV-DNA detection was carried out on cervical samples using real-time polymerase chain reaction. HPV genotyping and HPV-16 variants were characterized by direct sequencing of L1 viral capsid gene. RESULTS: The overall HPV prevalence was 34% (95% CI: 30-38%) with significantly higher prevalence among women with squamous intraepithelial lesions (SIL) than those with no intraepithelial lesions (NIL) 84% (95% CI: 76-92%) and 24.5% (95% CI: 20-29%) respectively. The distribution of HPV prevalence according to women's age shows a U-shaped curve and the highest HPV prevalence rates were observed among the youngest (≤25 years; 51.2%, 95% CI: 37-67%) and the oldest women (>55 years; 41.7%, 95% The HPV-16 prevalence was 32.8% (95% CI: 22-45%) among women with SIL and 9.2% (95% CI: 6-12%) among women with NIL. Whereas, the HPV-18 prevalence was 1.3% (95% CI: 0-5%) among women with SIL and 0.3% (95% CI: 0-1%) among women with NIL. Among HPV-16 positive women, European lineage (E) was identified as the predominant HPV-16 variant (85.7%, 95% CI: 76-95%). The frequency of E variant was lower among SIL than among NIL women (81%, 95% CI: 64-99%, and 88%, 95% CI: 77-100%, respectively). Conversely, the African-2 variant frequency was higher among SIL than among NIL women (18%, 95% CI: 1-36% and 6%, 95% CI: 2-14%, respectively). In multivariate analysis, young age was the only risk factor that is independently associated with HPV infection. Moreover, HPV infection and menopause were both found to be independently associated with SIL and HSIL. CONCLUSION: HPV DNA testing should be proposed to young and menopausal Tunisian women. Considering HPV prevalence, only 13% of the Tunisian women could be protected by the bivalent HPV vaccine. These results may be helpful for designing an adapted HPV testing and vaccination program in Tunisia.

3.
Gynecol Obstet Fertil ; 39(2): 87-93, 2011 Feb.
Article in French | MEDLINE | ID: mdl-21317010

ABSTRACT

Up to now, there are no protein tumor markers with a specificity and sensitivity sufficient to have a utility in prognosis and early diagnosis of cancer. Recent advances in proteomics approaches have led to the identification of novel tumor markers of cancer that may have a utility in screening strategies and treatment. The purpose of the current review is to describe the major advances in cancer proteomics, especially those related to the study of serum biomarkers, immune-related responses (autoantibodies) and alterations in cellular proteins.


Subject(s)
Neoplasms/diagnosis , Neoplasms/therapy , Proteomics , Autoantibodies , Biomarkers, Tumor/analysis , Biomarkers, Tumor/blood , Humans , Neoplasm Proteins/analysis , Neoplasms/chemistry , Prognosis , Sensitivity and Specificity
4.
Ann Chir Plast Esthet ; 55(3): 211-8, 2010 Jun.
Article in French | MEDLINE | ID: mdl-19879029

ABSTRACT

PURPOSE: The objective of the present study was to analyze current indications and results of different methods for breast anomaly correction of Poland's syndrome. PATIENTS AND METHODS: Eight patients with this deformity were operated between 1997 and 2008: seven females and one male. The mean age was 22. According to Foucras et al. classification, four patients revealed Poland's syndrome grade II, three patients grade I and two patients grade III. Three patients received silicone implants (two with Poland's syndrome grade II, one with grade III). Autologous fat injection was used for a male adolescent who was very embarrassed by his deformity. Controlateral lipo-aspiration was carried out in three cases with moderate Poland's syndrome breast asymmetry. For one patient, correction was achieved by controlateral breast resection. RESULTS: No intraoperative or postoperative complications occurred for the eight patients. Aesthetic results were overall satisfactory. CONCLUSION: The simplest and the fastest breast deformity correction technique in Poland's syndrome patients, the one with the least complications and cosmetic sequella and the most practiced by the surgeon, remains the best method for breast anomaly correction of Poland's syndrome.


Subject(s)
Breast/abnormalities , Breast/surgery , Poland Syndrome/surgery , Female , Humans , Male , Young Adult
5.
J Gynecol Obstet Biol Reprod (Paris) ; 38(7): 588-93, 2009 Nov.
Article in French | MEDLINE | ID: mdl-19833454

ABSTRACT

OBJECTIVES: To assess the benefit of sublingual misoprostol in addition to standard oxytocin in the prevention of post-partum hemorrhage at caesarean section. PATIENTS AND METHODS: This was a prospective randomized controlled clinical trial conducted from March to June 2007 at our department of obstetrics-Sousse-Tunisia, including 250 single low risk pregnant women undergoing caesarean section at gestational age>32 weeks gestation. Patients were randomly assigned to receive at cord clamping either sublingual 200microg misoprostol (Cytotec) with 20UI intravenous oxytocin (Oxytocin): bolus 10UI and infusion 10UI in 500ml Ringer Lactate): Group I, or only oxytocin at the same dose: Group II. The main outcome was total blood loss assessed by decrease in perioperative hematocrit. Secondary outcomes included measured collected blood loss, drop in hemoglobin level, additional oxytocin, side-effects and postoperative complications. RESULTS: The two groups were similar in demographic and obstetrical patient characteristics. Drop in hematocrit was more important in group II than in group I: 4.30%+/-3.14 versus. 1.10%+/-3.25; P=0.013. Drop in hemoglobin level was also more important in group II than in group I: 1.03g/dl+/-1.19 versus 0.54g/dl+/-1.17; P<0.01. Collected blood loss was less important in group I than in group II: 669.68cc+/-333.01 versus 852.52cc+/-295.08 ; P<0.01. Need for additional oxytocin and postoperative complications rate were more frequent in group II than in group I but the differences weren't significant. The rate of transient shivering, nausea and fever was significantly higher among women receiving misoprostol. CONCLUSIONS: Sublingual misoprostol (in addition to oxytocin) is effective in prevention of post-partum hemorrhage at caesarean sections when compared to oxytocin alone, without major side-effects. Larger studies are needed to confirm our results.


Subject(s)
Cesarean Section , Misoprostol/therapeutic use , Oxytocics/therapeutic use , Postpartum Hemorrhage/prevention & control , Administration, Sublingual , Adult , Female , Humans , Pregnancy , Prospective Studies
6.
J Gynecol Obstet Biol Reprod (Paris) ; 38(4): 335-40, 2009 Jun.
Article in French | MEDLINE | ID: mdl-19467806

ABSTRACT

OBJECTIVES: To compare efficacy and safety of two regimens of intracervical dinoprostone (Prepidil) in cervical ripening before labor induction at term. PATIENTS AND METHODS: This was a prospective randomized clinical study including 148 patients with single pregnancy, viable fetus at gestational age greater than 36 weeks gestation and a Bishop score less than five, who required induction of labor. Patients were randomised to receive either repeated doses of dinoprostone gel 0.5mg (Prepidil) every 6 hours (group I) or every 12 hours (group II) for maximum three times before inducing labor with Oxytocin. The main outcome was the rate of caesarean sections. RESULTS: The two groups were similar in patient characteristics, indication for labor induction and preinduction Bishop scores. The caesarean rate was lower in group I (20.3%) than in group II (23%); though the difference did not reach statistical difference: p=0.69. Delivery rate in the first 24 hours was significantly higher in group I (62.2%) than in group II (40.5%); p=0.009. Prepidil secondary effects were experienced in 8.1% of patients in group I versus 1.4% in group II; p=0.11. Median umbilical artery pH at birth was 7.232+/-0.47 in group I and 7.294+/-0.58 in group II; p=0.30. Maternofetal infections rate was lower in group I (1.4%) than in group II (2.7%) without significant difference (p=0.56). CONCLUSIONS: Repeated intracervical doses of Prepidil every 6 hours, in cervical ripening before labor induction at term, enables higher delivery rate in the first 24 hours without inducing excess of caesarean sections or maternofetal morbidity when compared to its administration every 12 hours.


Subject(s)
Dinoprostone/therapeutic use , Labor, Induced/methods , Adult , Dinoprostone/administration & dosage , Dinoprostone/adverse effects , Female , Fever/chemically induced , Humans , Hydrogen-Ion Concentration , Hyperkinesis/chemically induced , Oxytocics/administration & dosage , Oxytocics/adverse effects , Oxytocics/therapeutic use , Pain/chemically induced , Pregnancy , Pregnancy Trimester, Third , Prospective Studies , Safety , Vagina/physiology
7.
Placenta ; 29(5): 454-60, 2008 May.
Article in English | MEDLINE | ID: mdl-18342934

ABSTRACT

Placental mesenchymal dysplasia (PMD) is a distinct placental disorder that may coexist with a normal fetus. In one-third of cases, the fetus exhibits Beckwith-Wiedemann Syndrome (BWS). In the present study, we report a case of PMD changes associated with an unusual genetic constitution. Pathological examination showed an enlarged placenta with a mixture of normal but also numerous clusters of grape-like fluid-filled vesicles confined to the stem villi without trophoblast proliferation. Some stem villi contained many large vessels filled by partially organized thrombi consistent with PMD. The fetus presented an enlarged liver and cytomegaly in the adrenal glands, hyperplastic islets of Langerhans in the pancreas, and some microcysts with cuboidal epithelium in the kidneys. These findings suggest the Beckwith-Wiedemann syndrome phenotype. DNA genetic markers showed three alleles for three independent markers and two alleles for the 12 others. Fluorescent in situ hybridization (FISH) demonstrated that villous trophoblast and fetal tissues are diploid. The haploid paternal complement found in the androgenetic cells was different from that found in biparental cells, suggesting a double fertilization event. Preferential distribution of the androgenetic cells into the placenta explains the predominance of molar villi with an apparently normal fetus. This represents a well-documented case of androgenic and biparental mixture of cell types in both fetal and placental tissues.


Subject(s)
Beckwith-Wiedemann Syndrome/complications , Chimerism , Fetus/pathology , Mesoderm/pathology , Placenta Diseases/pathology , Adult , Androgens/pharmacology , Beckwith-Wiedemann Syndrome/genetics , Cell Line , Female , Humans , Inheritance Patterns , Models, Biological , Pregnancy , Pregnancy Trimester, First
8.
Gynecol Obstet Fertil ; 35(4): 312-6, 2007 Apr.
Article in French | MEDLINE | ID: mdl-17344086

ABSTRACT

OBJECTIVE: To determine the rate and risk factors for group B streptococcus (GBS) colonization in term pregnancies. PATIENTS AND METHODS: Vaginal and anal cultures were prospectively conducted in 294 parturient on admission for term vaginal delivery. RESULTS: Thirty-eight (12.92%) parturient had positive GBS cultures. None of the studied risk factors (age, education status, nulliparity, previous obstetric problem, twin pregnancy and diabetes) was statistically predictive of maternal colonization. All the isolated GBS were sensitive to the penicillin G. DISCUSSION AND CONCLUSION: Systematic screening strategy of GBS close to the delivery on all pregnant women is desirable.


Subject(s)
Anti-Bacterial Agents/therapeutic use , Carrier State/epidemiology , Pregnancy Complications, Infectious/epidemiology , Streptococcal Infections/epidemiology , Streptococcus agalactiae , Adult , Anal Canal/microbiology , Carrier State/diagnosis , Carrier State/drug therapy , Female , France , Humans , Mass Screening , Penicillins/therapeutic use , Pregnancy , Pregnancy Complications, Infectious/diagnosis , Pregnancy Complications, Infectious/drug therapy , Prospective Studies , Risk Factors , Streptococcal Infections/diagnosis , Streptococcal Infections/drug therapy , Vagina/microbiology
10.
Gynecol Obstet Fertil ; 34(6): 484-8, 2006 Jun.
Article in French | MEDLINE | ID: mdl-16713321

ABSTRACT

OBJECTIVE: To evaluate clinical reliability compared to intrapartum ultrasound as a tool to diagnose occiput posterior position and to investigate the proportion of rotations occurring during labour. PATIENTS AND METHODS: 350 women in labor with a singleton fetus in a vertex position were prospectively studied using ultrasound and obstetrical examination. Outcome of labor was also monitored. RESULTS: Reliability of clinical examination is 85,7%, initial occiput posterior position represented 40,2% and most rotated in an anterior position (84, 8%) while only 0,6% of initial anterior positions delivered in occiput posterior position. Logistic regression did not allow to find significant predictor of occiput posterior position rotation. DISCUSSION AND CONCLUSION: Clinical examination is relatively reliable for posterior position diagnosis and in most cases, initially occipitoposterior positions rotate anteriorly.


Subject(s)
Delivery, Obstetric , Labor Presentation , Ultrasonography, Prenatal , Adult , Female , Fetal Movement , Humans , Labor, Obstetric , Logistic Models , Longitudinal Studies , Pregnancy , Prospective Studies , Version, Fetal
12.
Gynecol Obstet Fertil ; 33(11): 884-6, 2005 Nov.
Article in French | MEDLINE | ID: mdl-16243569

ABSTRACT

Cavernous hemangiomas of the breast are uncommon. Clinical diagnosis is rather difficult. Generally there are coincidental microscopic findings. We present a case of a 67-year-old woman which commenced as a 6 cm palpable mass of the right breast. The use of mammography, ultrasound and MRI facilitate diagnosis. Large surgical excision of the lesion was performed and histology allowed to find a cavernous hemangioma without cellular atypia.


Subject(s)
Breast Neoplasms/diagnosis , Hemangioma, Cavernous/diagnosis , Aged , Breast Neoplasms/pathology , Breast Neoplasms/surgery , Female , Hemangioma, Cavernous/pathology , Hemangioma, Cavernous/surgery , Humans , Magnetic Resonance Imaging , Mammography , Ultrasonography
13.
Gynecol Obstet Fertil ; 33(7-8): 505-7, 2005.
Article in French | MEDLINE | ID: mdl-16005657

ABSTRACT

We report a case of pregnancy in a rudimentary horn that ruptured at 18 weeks. An emergency laparotomy was taken for acute abdomen and ruptured right rudimentary horn pregnancy was diagnosed. Excision of the rudimentary horn and ipsilateral salpingectomy were carried out. The patient's postoperative course was uneventful, and she left the hospital 6 days later.


Subject(s)
Pregnancy, Ectopic , Uterine Rupture/etiology , Uterus/abnormalities , Abdomen, Acute/etiology , Abdomen, Acute/surgery , Adult , Female , Humans , Hysterosalpingography , Laparotomy , Pregnancy , Pregnancy Trimester, Second , Pregnancy, Ectopic/diagnosis , Pregnancy, Ectopic/surgery , Treatment Outcome , Uterine Rupture/surgery , Uterus/surgery
14.
J Gynecol Obstet Biol Reprod (Paris) ; 34(3 Pt 1): 257-61, 2005 May.
Article in French | MEDLINE | ID: mdl-16012386

ABSTRACT

OBJECTIVES: To assess the clinical efficacy of mifepristone 100 mg followed two days later by misoprostol 400 microg orally in women undergoing medical termination of pregnancy up to 56 days gestational age. MATERIALS AND METHODS: Retrospective study over 8.5 months of 762 cases early medical abortion. 100 mg mifepristone was used on day 1 after clinic visit and vaginal ultrasonography. Misoprostol 400 microg was administered orally on day 3. Following administration of prostaglandin, women were observed in the ward for 4 hours. A control visit on day 15 was systematic. Success was defined as a complete uterine evacuation without the need for surgical intervention. RESULTS: Medical terminations accounted for 42% of all abortions. 16% of women were pregnant for < 42 days, 76% for 43 to 49 days and 8% for 50 to 56 days. Termination occurred within 4 hours after administration of misoprostol in 80.2% of the women. Only one woman aborted within 48 hours of mifepristone administration only. The success rate in this study was 94.4% and the failure rate increased with the gestational age. Pain was the predominant side effect. Six cases of bleeding required a surgical intervention. No patient required transfusion. 96% of patients attended a control visit on day 15. The acceptability rate of the method has been 94%. CONCLUSION: Mifepristone 100 mg followed two days later by misoprostol 400 microg orally is safe and effective for early termination of pregnancy.


Subject(s)
Abortifacient Agents, Steroidal/administration & dosage , Abortion, Induced/methods , Mifepristone/administration & dosage , Abortifacient Agents, Nonsteroidal/administration & dosage , Abortifacient Agents, Nonsteroidal/adverse effects , Abortifacient Agents, Steroidal/adverse effects , Adult , Female , Humans , Mifepristone/adverse effects , Misoprostol/administration & dosage , Misoprostol/adverse effects , Parity , Pregnancy , Retrospective Studies , Treatment Outcome
16.
J Gynecol Obstet Biol Reprod (Paris) ; 33(4): 319-24, 2004 Jun.
Article in French | MEDLINE | ID: mdl-15170428

ABSTRACT

PURPOSE OF THE STUDY: To study the feasibility, advantages and risks of laparoscopic management of adnexal tumors in the course of the last two trimesters of the pregnancy. MATERIAL AND METHODS: Retrospective study of a series of 25 cases of adnexal tumors operated by laparoscopy in the course of the second and the third trimester of pregnancy, during a period of 49 Months from 1st January 1999 to 30 January 2003. RESULTS: Mean gestational age at surgery was 16 weeks 3 days (range 12-29 weeks). The adnexal tumor was an ovarian cyst in 24 cases and in a paratubal cyst in a single case. Conversion was necessary in only one case due to difficult hemostasis. One revision required for borderline malignancy cystadenoma was performed laparoscopically during the same pregnancy. No operative complication was noted. Average post-operative stay was 36 hours (range 24-72 hours). There was one situation of eminent abortion in early the postoperative period but no thromboembolic complications. The pregnancy progress was normal after laparoscopy. CONCLUSION: Laparoscopic treatment of adnexal tumors is feasible in the course of the last two trimesters of the pregnancy in the hands of an experienced surgeon using advanced techniques. The well-known advantages of laparoscopy are particularly important during the pregnancy.


Subject(s)
Cysts/surgery , Fallopian Tube Diseases/surgery , Gestational Age , Laparoscopy , Ovarian Cysts/surgery , Pregnancy Complications/surgery , Adolescent , Adult , Cysts/diagnosis , Fallopian Tube Diseases/diagnosis , Female , Humans , Length of Stay , Ovarian Cysts/diagnosis , Pregnancy , Pregnancy Outcome
17.
J Gynecol Obstet Biol Reprod (Paris) ; 33(8): 745-52, 2004 Dec.
Article in French | MEDLINE | ID: mdl-15687947

ABSTRACT

OBJECTIVE: Our purpose was to determine whether the use of aortic isthmus Doppler waveform analysis in growth restricted fetuses delivered at 28 to 38 weeks predicts perinatal outcomes. MATERIAL AND METHODS: Prospective longitudinal study including singleton non-malformed euploid fetuses with accurate dating and diagnosed as growth restricted (abdominal circumference<10th percentile) and who were followed up at our institution and delivered<10 days after the last Doppler. Timing of delivery was collegial. Perinatal mortality and morbidity outcomes were compared in cases with anterograde blood flow versus retrograde net blood flow in aortic isthmus. Relative risk (RR) were calculated with 95% CI and P<0,05 was considered significant. RESULTS: Thirty-two cases were considered for analysis: growth-restricted foetuses with anterograde blood flow (n=26) versus retrograde net blood (n=6). Maternal demographic characteristics in the two groups were similar and exceptions made of femur length average values for fetal biometrics were not significantly different. Doppler velocimetry results at the uterine, umbilical and cerebral arteries were similar in the two groups. Gestational age at delivery and birth weight were similar in both groups (respectively (239.65 20.1 vs. 247.3 16.4 (days) (p=0.349) and 1748.8 gr 468.7 vs. 1933.3 gr 468.7 (p=0.408)). There was a statistically significant increase in perinatal mortality in retrograde net blood flow group: 8.66 [IC 95% 2.03 - 36.84]. An interesting finding was that neonates with aortic isthmus retrograde net blood flow were more frequently born by cesarean delivery because of a suspected fetal compromise RR=3.22 CI 95% [1.29-8]. CONCLUSION: In our study Doppler identification of aortic isthmus retrograde net blood flow in growth-restricted fetuses was associated with an increase of perinatal death.


Subject(s)
Fetal Growth Retardation/diagnostic imaging , Fetal Growth Retardation/physiopathology , Fetus/blood supply , Pregnancy Outcome , Ultrasonography, Doppler/methods , Ultrasonography, Prenatal/methods , Adult , Aorta/diagnostic imaging , Biometry , Blood Flow Velocity , Cesarean Section , Female , Gestational Age , Humans , Infant Mortality , Infant, Newborn , Longitudinal Studies , Pregnancy , Pregnancy Complications , Prognosis , Prospective Studies , Sensitivity and Specificity , Uterus/blood supply
18.
J Gynecol Obstet Biol Reprod (Paris) ; 32(6): 535-40, 2003 Oct.
Article in French | MEDLINE | ID: mdl-14593299

ABSTRACT

OBJECTIVES: To evaluate the clinical findings and therapeutic options following adnexal torsion. STUDY DESIGN: A retrospective series of 135 patients presenting with adnexal torsion between January 1992 and December 2001 in Sousse- Tunisia- a university teaching hospital. RESULTS: Adnexal torsion accounted for 14.8% of surgically treated adnexal tumors. Pregnancy was associated in 17% of cases and diagnosis was accurate at first clinical examination in only 57.8% of cases. Ultrasound allowed visualisation of Adnexal Diseases in all cases. Operative laparoscopy was successfully achieved in 34% of patients. Conservative management was used in 57% of the premenopausal patients. No major postoperative complication was noted. CONCLUSION: Clinicians must be aware of a possible adnexal torsion in women with acute pelvic pain. Ultrasound is a useful tool in these situations. Laparoscopy allows diagnosis and surgical management even during pregnancy.


Subject(s)
Adnexal Diseases/diagnosis , Adnexal Diseases/surgery , Laparoscopy , Abdominal Pain/etiology , Adolescent , Adult , Aged , Child , Female , Humans , Middle Aged , Ovarian Neoplasms/diagnosis , Ovarian Neoplasms/surgery , Pregnancy , Pregnancy Complications/diagnosis , Pregnancy Complications/surgery , Retrospective Studies , Torsion Abnormality/diagnosis , Torsion Abnormality/surgery
19.
Infection ; 31(3): 143-8, 2003 Jun.
Article in English | MEDLINE | ID: mdl-12789471

ABSTRACT

BACKGROUND: It is well established that certain types of human papillomavirus (HPV) are the sexually transmitted agents etiologically linked to cervical cancer. Sexual habits have been shown to be a major determining factor for HPV infection. A large study was carried out to investigate the prevalence and risk factors associated with cervical infection with HPV in Tunisian women. MATERIALS AND METHODS: PCR and restriction enzyme digestion were used to characterize HPV cervical infection in 106 Tunisian married women and 51 legal prostitutes. Epidemiological data were collected and correlated with HPV molecular genotyping. RESULTS: There was a higher relative frequency of HPV-DNA in prostitutes (39%) than in married women (14%) (p = 0.001). Molecular analyses of HPV types showed the most prevalent type in prostitutes to be HPV-16, a high-risk oncogenic type. In married women, the most prevalent type was HPV-6 which is associated with a low risk for cervical cancer. HPV-DNA detection was markedly increased in young adult women and in those having recent sexual experience. CONCLUSION: Cervical HPV infection in Tunisia is less frequent than in other African countries, but far from uncommon. The decrease of HPV prevalence in older women, regardless of their sexual behavior, may result from an efficient immune response acquired with age.


Subject(s)
Papillomaviridae/isolation & purification , Papillomavirus Infections/epidemiology , Tumor Virus Infections/epidemiology , Uterine Cervical Neoplasms/epidemiology , Uterine Cervical Neoplasms/virology , Adolescent , Adult , Age Distribution , Confidence Intervals , Female , Health Surveys , Humans , Marriage , Odds Ratio , Papillomavirus Infections/diagnosis , Prevalence , Probability , Risk Factors , Sex Work , Sexual Partners , Tumor Virus Infections/diagnosis , Tunisia/epidemiology
20.
Ann Biol Clin (Paris) ; 61(2): 229-33, 2003.
Article in French | MEDLINE | ID: mdl-12702481

ABSTRACT

At present, the application of combined methods in molecular biology allows us to carry out the prenatal diagnosis in a more rapid and less onerous manner especially when the family presents an index case. In this study, we have analyzed a family with one case of intermediate beta-thalassemia. First, we have used the denaturing gradient gel electrophoresis (DGGE). Then, we have identified the mutations by the refractory mutation system technique (ARMS PCR) using specific primers for the most frequent mutations in the Tunisian population (codon 39 (C --> T) and IVS-I-2 (T--> G) for beta0 thalassemias and IVS-I-110 (G --> A) for beta+ thalassemias). The analyzed family has shown the IVS-I-110 (G --> A) mutation in the heterozygous state in the mother and the index case. Subsequently, sequencing in the gene revealed a frameshift 8 (-AA) mutation in the father and his daughter. This patient is thus a compound heterozygote Codon 8 (-AA)/IVS-I-110. DGGE and ARMS PCR analysis of foetal DNA extracted from trophoblast culture didn't show any of the two mutations found in the family.


Subject(s)
Mutation , Prenatal Diagnosis , beta-Thalassemia/diagnosis , beta-Thalassemia/genetics , Adult , Base Sequence , Child , Codon , Electrophoresis, Polyacrylamide Gel , Female , Genotype , Heterozygote , Humans , Male , Pedigree , Phenotype , Polymerase Chain Reaction , Pregnancy , Tunisia
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