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1.
Clin Genet ; 98(3): 261-273, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32621347

RESUMO

Megacystis-microcolon-intestinal-hypoperistalsis syndrome (MMIHS) is a severe congenital visceral myopathy characterized by an abdominal distension due to a large non-obstructed urinary bladder, a microcolon and intestinal hypo- or aperistalsis. Most of the patients described to date carry a sporadic heterozygous variant in ACTG2. More recently, recessive forms have been reported and mutations in MYH11, LMOD1, MYLK and MYL9 have been described at the molecular level. In the present report, we describe five patients carrying a recurrent heterozygous variant in ACTG2. Exome sequencing performed in four families allowed us to identify the genetic cause in three. In two families, we identified variants in MMIHS causal genes, respectively a nonsense homozygous variant in MYH11 and a previously described homozygous deletion in MYL9. Finally, we identified compound heterozygous variants in a novel candidate gene, PDCL3, c.[143_144del];[380G>A], p.[(Tyr48Ter)];[(Cys127Tyr)]. After cDNA analysis, a complete absence of PDLC3 expression was observed in affected individuals, indicating that both mutated transcripts were unstable and prone to mediated mRNA decay. PDCL3 encodes a protein involved in the folding of actin, a key step in thin filament formation. Presumably, loss-of-function of this protein affects the contractility of smooth muscle tissues, making PDCL3 an excellent candidate gene for autosomal recessive forms of MMIHS.


Assuntos
Anormalidades Múltiplas/genética , Proteínas de Transporte/genética , Colo/anormalidades , Predisposição Genética para Doença , Pseudo-Obstrução Intestinal/genética , Proteínas do Tecido Nervoso/genética , Bexiga Urinária/anormalidades , Anormalidades Múltiplas/patologia , Feto Abortado , Actinas/genética , Colo/patologia , Feminino , Homozigoto , Humanos , Recém-Nascido , Pseudo-Obstrução Intestinal/patologia , Masculino , Mutação/genética , Cadeias Pesadas de Miosina/genética , Cadeias Leves de Miosina/genética , Linhagem , Bexiga Urinária/patologia , Sequenciamento do Exoma
2.
Prenat Diagn ; 40(8): 949-957, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32279384

RESUMO

OBJECTIVES: The objective of this study was to assess whether the laterality of congenital diaphragmatic hernia (CDH) was a prognostic factor for neonatal survival. METHODS: This was a cohort study using the French national database of the Reference Center for Diaphragmatic Hernias. The principal endpoint was survival after hospitalization in intensive care. We made a comparative study between right CDH and left CDH by univariate and multivariate analysis. Terminations and stillbirths were excluded from analyses of neonatal outcomes. RESULTS: A total of 506 CDH were included with 67 (13%) right CDH and 439 left CDH (87%). Rate of survival was 49% for right CDH and 74% for left CDH (P < .01). Multivariate analysis showed two factors significantly associated with mortality: thoracic herniation of liver (OR 2.27; IC 95% [1.07-4.76]; P = .03) and lung-to-head-ratio over under expected (OR 2.99; IC 95% [1.41-6.36]; P < .01). Side of CDH was not significantly associated with mortality (OR 1.87; IC 95% [0.61-5.51], P = .26). CONCLUSION: Rate of right CDH mortality is more important than left CDH. Nevertheless after adjusting for lung-to-head-ratio and thoracic herniation of liver, right CDH does not have a higher risk of mortality than left CDH.


Assuntos
Hérnias Diafragmáticas Congênitas/diagnóstico , Hérnias Diafragmáticas Congênitas/patologia , Pulmão/patologia , Adulto , Estudos de Coortes , Feminino , França/epidemiologia , Hérnias Diafragmáticas Congênitas/mortalidade , Humanos , Lactente , Mortalidade Infantil , Recém-Nascido , Pulmão/diagnóstico por imagem , Masculino , Gravidez , Diagnóstico Pré-Natal , Prognóstico , Reprodutibilidade dos Testes , Estudos Retrospectivos
3.
Joint Bone Spine ; 80(6): 574-81, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-24176736

RESUMO

The use of TNFα antagonists must follow specific guidelines to ensure optimal effectiveness and safety. The French Society for Rheumatology (SFR) and Task Force on Inflammatory Joint Diseases (CRI), in partnership with several French learned societies, asked the French National Authority for Health (HAS) to develop and endorse good practice guidelines for the prescription and monitoring of TNFα antagonist therapy by physicians belonging to various specialties. These guidelines were developed, then, validated by two multidisciplinary panels of experts based on an exhaustive review of the recent literature and in compliance with the methodological rules set forth by the HAS. They pertain to the initial prescription of TNFα antagonists and to a variety of clinical situations that can arise during the follow-up of patients receiving TNFα antagonists (infections, malignancies, pregnancy, vaccination, paradoxical adverse events, surgery, use in older patients, and vasculitides).


Assuntos
Antirreumáticos/uso terapêutico , Doenças Autoimunes/tratamento farmacológico , Fator de Necrose Tumoral alfa/antagonistas & inibidores , Humanos , Doenças Inflamatórias Intestinais/tratamento farmacológico
4.
Ann Pathol ; 33(1): 57-61, 2013 Feb.
Artigo em Francês | MEDLINE | ID: mdl-23472897

RESUMO

We report on an unusually large teratoma of the umbilical cord associated with multiple fetal anomalies. At 18 WG, an umbilical cord tumour was discovered by ultrasonography in a 38 year-old woman. A 2680 g female neonate (46, XX) was delivered at 37 WG by caesarean section. During surgery for exomphalos, a complete bowel malrotation, ischemic jejunal stenoses and bowel duplication were discovered. The tumor (2515 g) was a teratoma supplied by collaterals of the umbilical vein. Proliferative index calculated by flow cytometry was less than 10%. Tumor karyotype revealed several numerical anomalies with no structural abnormalities using multi-FISH analysis. Immunostaining for CEA and AFP were observed in endodermic derivatives of the duplication and associated with transient high levels of AFP in the blood. To our knowledge, it is the first case to be reported in the literature where karyotype, multi-FISH and FCM studies were available.


Assuntos
Anormalidades Múltiplas/patologia , Teratoma/complicações , Teratoma/patologia , Cordão Umbilical , Feminino , Humanos , Recém-Nascido
5.
Acta Obstet Gynecol Scand ; 91(11): 1342-5, 2012 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-22882003

RESUMO

We report our management of brow presentation at full dilatation by a prophylactic attempt at manual rotation or immediate cesarean delivery, depending on practitioner training. During the study period, 49 women with brow presentation were collected for an overall 30 452 deliveries (1/621) and 22 (44.9%) of them were diagnosed at full dilatation. For the latter, an attempt at manual rotation was performed in 13 cases (59.1%) with no particular maternal or neonatal complications reported and vaginal delivery occurred in 10 (76.9%). Maternal and neonatal outcomes were similar between women with immediate cesarean section or prophylactic manual rotation, except for a shorter duration of hospitalization in the group with attempted manual rotation (p < 0.01). Prophylactic attempted manual rotation in brow presentation diagnosed at full dilatation may be associated with a high rate of vaginal delivery with no specific maternal or neonatal complications.


Assuntos
Apresentação no Trabalho de Parto , Primeira Fase do Trabalho de Parto , Versão Fetal , Adulto , Cesárea , Parto Obstétrico , Feminino , Humanos , Tempo de Internação , Gravidez , Estudos Retrospectivos
6.
Fertil Steril ; 96(6): 1396-400, 2011 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22019124

RESUMO

OBJECTIVE: To use postoperative examination by three-dimensional (3D) ultrasound to compare loss of ovarian parenchyma after ovarian endometrioma ablation with the use of plasma energy versus cystectomy. DESIGN: Retrospective "before and after" comparative study. SETTING: University tertiary referral center. PATIENT(S): Thirty women with no previous history of ovarian surgery managed for unilateral ovarian endometrioma >30 mm in diameter. INTERVENTION(S): Endometrioma ablation using plasma energy and ovarian tissue-sparing cystectomy. MAIN OUTCOME MEASURE(S): 3D ultrasound assessment of postoperative reduction in ovarian volume and antral follicle count (AFC). RESULT(S): Fifteen women with comparable baseline characteristics were managed by each technique. Those who underwent cystectomy showed a statistically significant reduction in ovarian volume and AFC when compared with women who underwent ablation using plasma energy. Multivariate analysis showed that the relationship between the decrease in ovarian volume and AFC and the use of cystectomy remained statistically significant after adjustment for age, previous pregnancy, and cyst diameter. CONCLUSION(S): When compared with plasma energy ablation, cystectomy is responsible for a statistically significant decrease in ovarian volume and a statistically significant reduction in AFC. This data should be taken into account in therapeutic decision-making concerning women attempting pregnancy, especially where there are other risk factors for postoperative ovarian failure.


Assuntos
Endometriose/cirurgia , Preservação da Fertilidade/métodos , Procedimentos Cirúrgicos em Ginecologia/métodos , Terapia a Laser/métodos , Tratamentos com Preservação do Órgão/métodos , Doenças Ovarianas/cirurgia , Adulto , Endometriose/complicações , Feminino , Fertilização/fisiologia , Humanos , Cistos Ovarianos/complicações , Cistos Ovarianos/cirurgia , Doenças Ovarianas/complicações , Ovariectomia/métodos , Ovário/patologia , Ovário/cirurgia , Ovário/ultraestrutura , Gases em Plasma/uso terapêutico , Gravidez , Estudos Retrospectivos
7.
Fertil Steril ; 95(8): 2621-4.e1, 2011 Jun 30.
Artigo em Inglês | MEDLINE | ID: mdl-21621773

RESUMO

We performed a retrospective three-dimensional ultrasound evaluation of the ovarian features in ten women with no previous ovarian surgery who benefited from ablation by plasma energy for unilateral endometriomas greater than to 30 mm in diameter. Values of ovarian volume and antral follicle count in operated ovaries were decreased by an average 12% and 18%, respectively, suggesting that endometrioma ablation using plasma energy spares the underlying ovarian parenchyma.


Assuntos
Técnicas de Ablação , Endometriose/cirurgia , Imageamento Tridimensional , Doenças Ovarianas/cirurgia , Folículo Ovariano/diagnóstico por imagem , Ovário/cirurgia , Técnicas de Ablação/efeitos adversos , Adulto , Endometriose/diagnóstico por imagem , Endometriose/patologia , Feminino , França , Humanos , Doenças Ovarianas/diagnóstico por imagem , Doenças Ovarianas/patologia , Folículo Ovariano/lesões , Ovário/diagnóstico por imagem , Ovário/lesões , Ovário/patologia , Valor Preditivo dos Testes , Estudos Retrospectivos , Fatores de Tempo , Resultado do Tratamento , Ultrassonografia , Adulto Jovem
8.
Acta Obstet Gynecol Scand ; 86(1): 55-60, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17230290

RESUMO

BACKGROUND: To compare neonatal and maternal outcomes for breech first twins according to whether vaginal or cesarean delivery was planned and to verify that in appropriate selected cases, attempted vaginal delivery is a reasonable choice. METHODS: A retrospective study of all twin pregnancies with the first twin in breech position and gestational age at least 35 weeks at birth at two French university hospital centers from January 1994 through December 2000. The primary outcome was a combined indicator of neonatal mortality and severe morbidity, as defined by one or more of the following: death before discharge, admission to neonatal intensive care unit, 5-minute Apgar score <7, cord blood pH <7.10, or birth trauma. RESULTS: Cesarean delivery was planned for 71 (36.4%) patients, and attempted vaginal delivery for 124 (63.6%), 59 (47.6%) of whom were delivered vaginally and 65 (52.4%) by cesarean during labor. Neither the combined negative outcome indicator nor neonatal mortality differed significantly for either twin or either group. There were no significant differences in maternal mortality or morbidity between the two groups. The frequency of deep vein thrombophlebitis or pulmonary embolism requiring anticoagulant therapy was significantly higher in the planned cesarean group [3/71 (4.2%) versus 0/124; p=0.047]. CONCLUSION: When appropriate criteria are used to decide mode of delivery, a careful intrapartum protocol is followed, and an experienced obstetrician, midwife, and anesthesiologist are in attendance, attempted vaginal delivery is a reasonable option for first twins in breech position.


Assuntos
Apresentação Pélvica , Parto Obstétrico/estatística & dados numéricos , Gêmeos , Adulto , Cesárea/estatística & dados numéricos , Feminino , França/epidemiologia , Humanos , Recém-Nascido , Prontuários Médicos , Hemorragia Pós-Parto , Gravidez , Resultado da Gravidez , Estudos Retrospectivos
9.
Fetal Diagn Ther ; 22(1): 51-4, 2007.
Artigo em Inglês | MEDLINE | ID: mdl-17003559

RESUMO

To date, the number of cases reported after exposure to mifepristone alone in early pregnancy is limited. In 24 cases, only 1 observation of fetal malformation associated with mifepristone has previously been reported. We report a case of amniotic band syndrome with limb amputation after exposure to mifepristone in early pregnancy. This association raises the question of a possible causal relationship.


Assuntos
Abortivos Esteroides/efeitos adversos , Síndrome de Bandas Amnióticas/etiologia , Síndrome de Bandas Amnióticas/patologia , Braço/patologia , Mifepristona/efeitos adversos , Adulto , Feminino , Humanos , Recém-Nascido , Gravidez
10.
Prog Urol ; 16(3): 361-7, 2006 Jun.
Artigo em Francês | MEDLINE | ID: mdl-16821352

RESUMO

OBJECTIVES: To evaluate the efficacy and possible short-term and medium-term complications of vaginal prosthetic surgery with transobturator fixation to treat prolapse and stress urinary incontinence (SUI) that are often associated in a single operation. MATERIAL AND METHOD: From February 2002 to August 2004, 45 patients with a mean age of 66 +/- 11 years presenting essentially stage 3 or 4 cystocele associated with SUI (documented for 40 cases and revealed by reduction of the prolapse for the other five) were operated according to the transobturator infracoccygeal sling technique. RESULTS: With a mean follow-up of 31 +/- 9 months, the success rate of the technique was estimated to be 98% anatomically (only one failure) and 91% in terms of urinary symptoms (73% of patients were cured, 18% were improved and 9% failed). No cases of urinary retention were observed, except for one patient with a secondarily infected pelvic haematoma requiring evacuation and the partial removal of the prosthesis. The mean residual urine on discharge was 83 ml. Two patients developed de novo overactive bladder The prostheses exposure rate was 18%. CONCLUSION: Combined treatment of vaginal prolapse and associated urinary incontinence is possible by the use of a single transvaginal prosthesis. The medium-term anatomical results are very good. The results on continence are good and a subsequent specific procedure is always possible in the case of failure or insufficient improvement. The prostheses exposure rate is similar to that observed with synthetic transvaginal prostheses.


Assuntos
Próteses e Implantes , Incontinência Urinária por Estresse/complicações , Incontinência Urinária por Estresse/cirurgia , Prolapso Uterino/complicações , Prolapso Uterino/cirurgia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Pessoa de Meia-Idade , Desenho de Prótese
12.
Prenat Diagn ; 26(2): 154-7, 2006 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-16463294

RESUMO

OBJECTIVE: To assess ultrasound findings of a fetus with intrauterine growth retardation (IUGR) and skin damage, related to intrauterine herpes simplex virus (HSV) infection. METHODS: A 23-year-old, G1, P0 woman was referred at 23.5 weeks' gestation (WG) for IUGR. The patient had a previous single episode of serotype 1 herpes progenitalis at 11 WG. Ultrasound examination revealed extensive skin changes with no cerebral involvement. The methods employed for evaluation of the disease included maternal serology, amniocentesis and repeated ultrasound examinations. RESULTS: Maternal serology was positive for HSV1 and fetal infection was confirmed via polymerase chain reaction (PCR). At 27 WG, amniotic fluid index decreased and lower limb skin as well as abdominal skin was irregular. Oesophagus was thickened. In contrast, upper limb skin and cranial vault were thin and less visible. IUGR was predominant as regards bone parameters. After termination of pregnancy, the fetus showed macroscopic characteristics of HSV infection. Microscopic examination revealed only placental and skin lesions. CONCLUSIONS: Our report illustrates a rare case of HSV1 intrauterine infection that occurred during the first trimester with bone and cephalic IUGR associated with extensive skin damage, and with no cerebral involvement.


Assuntos
Herpes Simples/diagnóstico , Herpesvirus Humano 1 , Diagnóstico Pré-Natal , Adulto , Amniocentese , Feminino , Retardo do Crescimento Fetal/diagnóstico por imagem , Herpes Simples/diagnóstico por imagem , Herpes Simples/patologia , Humanos , Gravidez , Ultrassonografia Pré-Natal
13.
Acta Obstet Gynecol Scand ; 83(4): 330-4, 2004 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-15005778

RESUMO

Cerebral aneurysmal complications rarely occur during pregnancy. Telling the difference between eclampsia and cerebral hemorrhage due to aneurysmal rupture can prove to be difficult. Aneurysmal management should be performed in an emergency but fetal prognosis should be considered. We report a series of eight pregnant women presenting aneurysmal complications and we have assessed their management and outcome. Both maternal and perinatal mortality rates were correlated with the maternal clinical score. We stress the role of combined care by both neurosurgeons and obstetricians. An emergency cesarean section followed by aneurysmal treatment appears to be a widely accepted strategy in pregnant women with cerebral aneurysmal complications.


Assuntos
Aneurisma Roto/complicações , Aneurisma Intracraniano/complicações , Complicações Cardiovasculares na Gravidez/diagnóstico , Complicações Cardiovasculares na Gravidez/terapia , Hemorragia Subaracnóidea/diagnóstico , Hemorragia Subaracnóidea/terapia , Adulto , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Gravidez , Resultado da Gravidez , Estudos Retrospectivos , Hemorragia Subaracnóidea/etiologia , Resultado do Tratamento
14.
Prenat Diagn ; 22(11): 979-83, 2002 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-12424760

RESUMO

We report a case of a fetal haemangioblastoma located in the cerebellopontine angle. On prenatal ultrasonographic examination a hyperechogenic and heterogeneous mass with a major vascularization on colour Doppler imaging was observed. It increased progressively and laminated the cerebellum. A neoplastic tumour was suspected but its extent into the cerebral peduncle was unclear. Diagnosis was made at autopsy using histological, immunohistochemical and flow cytometric evaluation. Haemangioblastoma is an exceptional congenital tumour, which is either sporadic or integrated in von Hippel-Lindau disease (VHLD). We discuss the obstetrical management of prenatal brain tumours and the genetic counselling of haemangioblastoma.


Assuntos
Neoplasias Cerebelares/congênito , Doenças Fetais/diagnóstico por imagem , Hemangioblastoma/congênito , Ultrassonografia Pré-Natal , Aborto Eugênico , Adulto , Capilares/patologia , Neoplasias Cerebelares/irrigação sanguínea , Neoplasias Cerebelares/diagnóstico por imagem , Neoplasias Cerebelares/patologia , Ecocardiografia Doppler em Cores , Feminino , Doenças Fetais/patologia , Idade Gestacional , Hemangioblastoma/irrigação sanguínea , Hemangioblastoma/diagnóstico por imagem , Hemangioblastoma/patologia , Humanos , Imageamento por Ressonância Magnética
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