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Biomedical subjects

M Uzan

Publications and source records attributed to M Uzan.

At least 37 records · Page 2Linked to original sources
PubMed2004

Structural chromosomal mosaicism and prenatal diagnosis.

True structural chromosomal mosaicism are rare events in prenatal cytogenetics practice and may lead to diagnostic and prognostic problems. Here is described the case of a fetus carrying an abnormal chromosome 15 made of a whole chromosome 2p translocated on its short arm in 10% of the cells, in association with a normal cell line. The fetal karyotype was 46,XX,add(15)(p10).ish t(2;15)(p10;q10)(WCP2+)[3]/46,XX[27]. Pregnancy was terminated and fetus examination revealed a growth retardation associated with a dysmorphism including dolichocephaly, hypertelorism, high forehead, low-set ears with prominent anthelix and a small nose, which were characteristic of partial trisomy 2p. Possible aetiologies for prenatal mosaicism involving a chromosomal structural abnormality are discussed.

Abnormalities, Multiple↗
PubMed2004

European register of babies born to mothers with antiphospholipid syndrome.

This prospective multicentric register was initiated by the European Forum of Antiphospholipid Antibodies (APL) in 2003 after approval by local ethic committees. This register allows the investigation of infants after written informed parental consent. It collects mothers' clinical pattern of antiphospholipid syndrome (APS), course and outcome of pregnancy, treatment and immunological status. For the babies, clinical and immunological examinations are performed at birth; neurodevelopmental conditions followed up to five years. A re-evaluation of lupus anticoagulant (LA), anticardiolipin (ACL) or other antibodies will be done if they are positive at birth to follow their kinetics. A descriptive and a case control study of babies with versus without APL at birth will be possible after the inclusion of 300 cases.

Antiphospholipid Syndrome↗
PubMed2003

[Endometrial ossification: about one case].

The ossification of the endometrium is a rare disease. The common feature in most reported cases is previous history of abortion with retention of foetal bones. However, the physiopathology is unknown. Clinical presentation may include secondary infertility as well as chronic inflammation of endometrium. About one recent observation and with help of publications, we will discuss physiopathology, symptomatology and therapeutics of this disease.

Abortion, Induced↗
PubMed2003

[Delayed delivery in twin pregnancy].

We report the observation of a primigravid patient, presenting a spontaneous twin pregnancy bichorionic and biamniotic. After expulsion of the first twin at 20 weeks and two days, expectancy is adopted and the second twin is born at 31 weeks and three days. In front of this not so frequent obstetrical situation and the absence of consensus, we discuss three points: cerclage, tocolysis and the prophylactic antibiotherapy. We specify that the attempt at differed childbirth is aimed at improving the foetal prognosis of the second twin by bringing it into the viable term, as well as obtaining a survival with the least possible number of sequels.

Adult↗
PubMed2003

[Uteroplacental haemodynamics and uterine artery Doppler practice at 12 weeks gestation].

Last years, feasibility and possible interest of uterine artery Doppler during the third month of gestation were confirmed. Doppler flow velocity waveforms can be obtained and assessed in both uterine arteries using abdominal ultrasonography at 12-14 weeks' gestation. The no notch group (one third of women) has a low risk for hypertension, intra-uterine growth restriction, abruptio placentae. The "protecting" effect of the absence of uterine artery notch is as high as this physiological change occurs earlier.

Arteries↗
PubMed2003

Thalamic proton magnetic resonance spectroscopy in vegetative state induced by traumatic brain injury.

OBJECTIVES: To determine whether proton magnetic resonance spectroscopy (MRS), a newer radiographic technology, would be useful in the evaluation of the thalamus of patients in vegetative states resulting from traumatic brain injury. METHODS: 14 victims of severe traumatic brain injury who were in the vegetative state and whose magnetic resonance images of the thalamus were normal underwent bilateral thalamic proton (MRS) studies. The N-acetyl aspartate to creatine (NAA:Cr) and choline to creatine (Cho:Cr) ratios were obtained for each patient. The proton thalamic MRS findings of patients who were in a persistent vegetative state (n = 8) and in patients who had regained awareness after being in the vegetative state (n = 6) were compared with proton thalamic MRS findings in five healthy volunteers. RESULTS: While conventional magnetic resonance imaging suggested that each patient had a normal thalamus, proton MRS indicated that the thalamus of each patient in the series was damaged. The NAA:Cr ratio was significantly lower in the thalami of both the patients who remained in a persistent vegetative state for the duration of the study and in those who regained awareness after being in the vegetative state (p < 0.001). In addition, NAA:Cr ratios were lower in the group of patients who remained in a persistent vegetative state than in the group of patients who regained awareness after being in the vegetative state (p < 0.001). CONCLUSIONS: Results suggest that the NAA:Cr ratio within the thalamus is significant and that thalamic MRS may be helpful when attempting to determine the degree of severity of neuronal and axonal injury in patients in the vegetative state.

Adolescent↗
PubMed2002

[Neonatal cutaneous lupus. Necessary interdisciplinary collaboration].

INTRODUCTION: Neonatal lupus erythematosus is a rare syndrome (affecting 5% of the children born of mothers with lupus), characterized essentially by cutaneous lesions and/or congenital auricular-ventricular heart block. It is due to the transplacental passage of maternal antibodies (anti-SSA or anti-SSB, or occasionally anti-U1RNP antibodies) into the fetal circulation. OBSERVATION: We report a case of neonatal lupus erythematosus, having appeared 4 weeks after birth. The 26 years old mother exhibited systemic lupus erythematosus concomitant to Gougerot-Sjögren's syndrome, with positive antinuclear factors (1/2560), native anti-DNA, anti-SSA and anti-SSB antibodies and anticardiolipin antibodies. During pregnancy, the mother had been treated with aspirin at the dose of 100 mg/day, followed by subcutaneous enoxaparin 0.4 ml/day, and combined with prednisone 10 mg/d and hydroxychloroquine 400 mg/day. Early and regular cardiac monitoring of the foetus was performed. The clinical examination and the electrocardiogram at birth were normal. Four weeks later, the infant presented with erythematous cutaneous lesions with atrophic center. No systemic treatment was initiated and the lesions partially regressed. CONCLUSION: Cutaneous lesions can also appear after the 4th week of life. It is important that the pediatricians clinically monitor all the children born to mothers exhibiting anti-SSA or anti-SSB antibodies, at least during the first 7 months of life.

Adult↗
PubMed2002

Knowledge about contraception in women undergoing repeat voluntary abortions, and means of prevention.

AIMS: Despite reliable and effective means of contraception, cases of repeat abortion are on the increase in all developed countries. The aim of this work was to determine whether women undergoing repeat abortions are exposed to risk factors which might be amenable to preventative measures, and the methods employed by carers in these cases. METHODS: We set out to evaluate practices in the Family Planning Centre of l'Hôpital Jean Verdier (Bondy, France) by sending a questionnaire to 147 women who had undergone two abortions up to 1997, and by conducting interviews with the care team. Thirty patients responded to the questionnaire. RESULTS: Twenty-two women (73%) underwent one or more further abortions between 1999 and 2000. Twenty-seven out of 30 women were unaware of the existence of emergency contraception. The 'morning after' pill, indicated for cases of unprotected sex, was unknown to one woman in two (15), nine out of 30 did not know what 'back-up' measures they should take after missing a dose of the contraceptive pill. Psychological problems were found in nine cases. These were followed up with a psychological consultation in three cases. The information given to the patients by the carers was the same irrespective of the number of abortions. Poverty and psychological problems were noted by the carers. CONCLUSION: Patients who have undergone two abortions might benefit, in addition to their routine visits, from a consultation with a psychologist and a consultation providing information about contraception. Providing the contraceptive pill free of charge to low-income patients is essential.

Abortion, Induced↗
PubMed2002

[Evaluation of the risk of abortion abuse resulting from the two-week legal delay in France].

OBJECTIVE: The legal delay for abortion in France has recently been prolonged from 10 (12 weeks of amenorrhea) to 12 weeks (14 weeks of amenorrhea). With the progress in sonography, certain foetuses may exhibit malformations during the first trimester. Diagnosis of foetal gender at 12 weeks of amenorrhea is sometimes possible. We studied the possibility that the prolonged legal delay before abortion might incite women to abort, simply on sonographic criteria. METHODS: Our enquiry was conducted in March 2001 in the department of Obstetrics and Gynaecology of the Jean Verdier hospital in Bondy. Two questionnaires were drawn-up by the Medical Ethics Laboratory of the Necker Hospital in Paris and were distributed to 128 women and 24 nurses. RESULTS: Recourse to abortion was high if laparoschisis or the absence of a hand was revealed, low in the case of opacity of the neck, and almost inexistent in the case of unwanted gender, in a female population with less than one child. CONCLUSION: A national consensus on foetal abnormalities to be searched for, and not to be searched for (Number of fingers? Upper lip?...) and the eventual detection of the gender during sonography of the 1st trimester is urgent in view of the technological progress made. Clear and reassuring information is essential when confronted with foetal abnormalities and must lead to complete and precise antenatal diagnosis (caryotyping, sonographic control 2 or 3 weeks later).

Abortion, Legal↗
PubMed2002

[Ovarian vein thrombophlebitis and post-partum fever].

INTRODUCTION: Ovarian vein thrombophlebitis (OVT) is a rare but potentially threatening complication of the postpartum period. Diagnosing it may be of some difficulty especially in case of symptoms mimicking appendicitis or pyelonephritis. EXEGESIS: We report 2 patients with postpartum right OVT. The clinical presentation included high grade fever, and pain, lumbar in one case, of the right flank in the other. Pulmonary embolism complicated both cases. CONCLUSION: Diagnostic and therapeutic management of OVT was transformed by progresses in medical imaging during the 1980's. However, optimal duration of anticoagulant treatment and secondary prevention indications have to be determined.

Adult↗
PubMed2002

[Operable stage IB and II cancer of the uterine neck: retrospective comparison between preoperative utero-vaginal curietherapy and initial surgery followed by radiotherapy].

PURPOSE: To identify prognostic factors and treatment toxicity in a series of operable stages IB and II cervical carcinomas. PATIENTS AND METHODS: Between May 1972 and January 1994, 414 patients (pts) with cervical carcinoma staged according to the 1995 FIGO staging system underwent radical hysterectomy with (n = 380) or without (n = 34) bilateral pelvic lymph node dissection. Lateral ovarian transposition to preserve ovarian function was performed on 12 pts. The methods of radiation therapy (RT) were not randomised and depended on the usual practices of the surgical teams. Group I: 168 pts received postoperative RT (64 pts received vaginal brachytherapy alone [mean total dose (MD): 50 Gy], 93 pts had external beam pelvis RT (EBPRT) [MD: 45 Gy over 5 weeks] followed by vaginal brachytherapy [MD: 20 Gy], and 11 pts had EBPRT alone [MD: 50 Gy over 6 weeks]. Group II: 246 pts received preoperative utero-vaginal brachytherapy [MD: 65 Gy], and 32 of theses 246 pts also received postoperative EBPRT [MD: 45 Gy over 5 weeks] delivered to the parametric and the pelvic lymph nodes with a midline pelvic shield. The mean follow-up was 106 months. RESULTS: The 10-year disease-free survival (DFS) rate was 80%. From 75 recurrences, 35 were isolated locoregional. Multivariate analysis showed that independent factors decreasing the probability of DFS were: both exo and endocervical tumour site (p = 0.047), lymph-vascular space invasion (p = 0.041), age < or = 51 yr (p = 0.013), 1995 FIGO staging system (stage IB1 vs stage IIA, p = 0.004, stage IB1 vs stage IB2, p = 0.0009, and stage IB1 vs stage IIB with 1/3 proximal parametrical infiltration, p = 0.00002), and histological pelvic involved lymph nodes (p = 0.00009). Methods of adjuvant RT did not influence the probability of DFS (group I vs group II, p = 0.10). The postoperative complication rate was 10.2% in group I and 8.9% in group II (p = 0.7) but the postoperative urethral complication rate necessitating surgical intervention with reimplantation was lower in group I than in group II (0.6% vs 2.3%, respectively, p = 0.03). The 10-year rate for grade 3 and 4 late radiation complications according to the LENT-SOMA scoring system was 10.4%. EPRT significantly increased the 10-year rate for grade 3 and 4 late radiation complications (yes vs no: 22% vs 7%, respectively, p = 0.0002). CONCLUSION: In our series, the methods of adjuvant RT (primary surgery vs preoperative uterovaginal brachytherapy) do not seem to influence the prognosis of the stage IB, IIA, and IIB (with 1/3 proximal parametrical involvement only) cervical carcinomas. The postoperative EPRT applied according to histopathological risk factors after surgical treatment increases the risk of late radiation complications.

Adult↗
PubMed2002

[Menorrhagia after age 40. Contribution of ultrasonic examination].

Menorrhagia after age 40 can have functional, general, local, or organic reasons. The most frequent are: submucous myomas, adenomyosis, polyps. Submucous myomas: a transvaginal scan (TVUS) specifies the type of myoma according to its situation within the uterine cavity: intracavitary myoma or submucous. A transvaginal scan is performed to assess myomas before operative HSC. There are three criteria to check: myomas diameter must be less than 5 cm; 5 mm or more of normal myometrium should be present between myoma and external wall; the myoma must not be in contiguity with a subserosal myoma. Uterine adenomyosis is a common gynecologic condition that is characterized by the presence of heterotopic endometrial glands and stroma in the myometrium with adjacent smooth muscle hyperplasia. Pathology may be proximal or distal, focal or diffuse. Transvaginal US shows: cystic dilatation of heterotopic glands, heterogeneity of the myometrial echotexture, antero-posterior asymmetry of the uterus. TVUS has a sensitivity of 62 to 89% and a specificity of 89 to 96%. Polyps are most often hyperechoic: this makes the diagnosis more difficult in luteal phase; Power Doppler shows the vascular central pedicle. TVUS has a sensitivity of 75%. The polyps smaller than 3 mm are not visible in a reliable way without the help of a contrast media in the cavity.

Adenomyoma↗
PubMed2002

Lack of submicroscopic rearrangements involving telomeres in reproductive failures.

BACKGROUND: It has been recognized that chromosomal abnormalities are one of the most important causes of the high mortality rate in human concepti. Among these abnormalities, the unbalanced transmission of a parental chromosomal rearrangement is frequently observed, and couples with a history of pregnancy losses are therefore referred for genetic counselling and to establish their karyotype. Unbalanced chromosomal rearrangements involving telomeres are emerging as an important cause of mental retardation and/or congenital malformations in humans. As suggested by several authors, they could also be responsible for recurrent miscarriages. The aim of this study was to screen cryptic chromosome abnormalities in couples referred to our laboratory for recurrent unexplained miscarriages. METHODS AND RESULTS: Karyotyping was performed in 57 couples (114 patients). A detectable chromosomal abnormality was diagnosed in seven cases, thus limiting the analysis of telomeres to only 100 patients. Two different protocols were used according to the number of metaphases on slides. No telomeric chromosome abnormality was detected in our study. CONCLUSION: The use of FISH telomeric probes is not of clinical interest in the systematic screening of couples with multiple miscarriages and should be performed only in those with a familial history of mental retardation and congenital malformations.

Abortion, Habitual↗
PubMed2001

Adenocarcinoma of the endometrium treated with combined irradiation and surgery: study of 437 patients.

PURPOSE: To identify prognostic factors and treatment toxicity in a series of operable endometrial adenocarcinomas. METHODS AND MATERIALS: Between November 1971 and October 1992, 437 patients (pts) with endometrial carcinoma, staged according to the 1988 FIGO staging system (225 Stage IB, 107 Stage IC, 4 Stage IIA, 35 Stage IIB, 30 Stage IIIA, 6 Stage IIIB, and 30 Stage IIIC), underwent total abdominal hysterectomy and bilateral salpingo-oophorectomy without (n = 140) or with (n = 297) pelvic lymph node dissection. The chronology of adjuvant RT was not randomized and depended on the usual practices of the surgical teams. Seventy-nine pts (Group I) received preoperative low-dose-rate uterovaginal brachytherapy (mean dose [MD]: 57 Gy). Three hundred fifty-eight pts (Group II) received postoperative RT. One hundred ninety-six pts received low-dose-rate vaginal brachytherapy alone (MD: 50 Gy). One hundred fifty-eight pts had external beam pelvic RT (MD: 46 Gy) followed by low-dose-rate vaginal brachytherapy (MD: 17 Gy). Four pts had external beam pelvic RT alone (MD: 47 Gy). The mean follow-up from the beginning of treatment was 128 months. RESULTS: The 10-year disease-free survival rate was 86%. From 57 recurrences, only 12 were isolated locoregional recurrences. The independent factors decreasing the probability of disease-free survival were as follows: histologic type (clear-cell carcinoma, p = 0.038), largest histologic tumor diameter >3 cm (p = 0.015), histologic grade (p = 0.008), myometrial invasion > 1/2 (p = 0.005), and 1988 FIGO staging system (p = 9.10(-8)). In Group II, the addition of external beam pelvic RT did not seem to independently improve vaginal or pelvic control. The postoperative complication rate was 7%. The independent factors increasing the risk of postoperative complications were stage FIGO (p = 0.02) and pelvic lymph node dissection (p = 0.011). The 10-year rate for Grade 3 and 4 late radiation complications according to the LENT-SOMA scoring system was 3.1%. External beam pelvic RT independently increased the rate for Grade 3 and 4 late complication (RR: 5.6, p = 0.0096). CONCLUSION: Postoperative external beam pelvic RT increases the risk of late radiation complications. After surgical and histopathologic staging with pelvic lymph node dissection, in subgroup of "intermediate-risk" patients (Stage IA Grade 3, IB-C and II), postoperative vaginal brachytherapy alone is probably sufficient to obtain a good therapeutic index. Results for patients with Stage III tumor are not satisfactory.

Adenocarcinoma↗
PubMed2001

Finite element model of the Jefferson fracture: comparison with a cadaver model.

This study tries to explain the reason why the Jefferson fracture is a burst fracture, using two different biomechanical models: a finite element model (FEM) and a cadaver model used to determine strain distribution in C1 during axial static compressive loading. For the FEM model, a three-dimensional model of C1 was obtained from a 29-year-old healthy human, using axial CT scans with intervals of 1.0 mm. The mesh model was composed of 8200 four-noded isoparametric tetrahedrons and 37,400 solid elements. The material properties of the cortical bone of the vertebra were assessed according to the previous literature and were assumed to be linear isotropic and homogeneous for all elements. Axial static compressive loads were applied at between 200 and 1200 N. The strain and stress (maximum shear and von Mises) analyses were determined on the clinically relevant fracture lines of anterior and posterior arches. The results of the FEM were compared with a cadaver model. The latter comprised the C1 bone of a cadaver placed in a methylmethacrylate foam. Axial static compressive loads between 200 and 1200 N were applied by an electrohydraulic testing machine. Strain values were measured using strain gauges, which were cemented to the bone where the clinically relevant fracture lines of the anterior and posterior arches were located. As a result, compressive strain was observed on the outer surface of the anterior arch and inferior surface of the posterior arch. In addition, there was tensile strain on the inner surface of the anterior arch and superior surface of the posterior arch. The strain values obtained from the two experimental models showed similar trends. The FEM analysis revealed that maximum strain changes occurred where the maximum shear and von Mises stresses were concentrated. The changes in the C1 strain and stress values during static axial loading biomechanically prove that the Jefferson fracture is a burst fracture.

Adult↗