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1.
Int Urogynecol J ; 2024 Aug 07.
Artigo em Inglês | MEDLINE | ID: mdl-39110177

RESUMO

INTRODUCTION AND HYPOTHESIS: The aim of this study was to evaluate anatomical and functional outcomes of a modified McCall culdoplasty compared with the traditional technique for pelvic organ prolapse. METHODS: This prospective clinical observational study was conducted in a secondary referral urogynecological center between October 2021 and October 2022. A modified McCall culdoplasty was performed in 85 patients (group A). It was characterized by dissection of uterosacral ligaments up to the ischial spines, their shortening and attachment to the vaginal apex and both the rectovaginal and the vesicovaginal fascia. Outcomes were compared with those of a group of 86 patients (group B) who underwent the traditional culdoplasty between September 2020 and September 2021. Primary outcome was prolapse recurrence. Secondary endpoints included subjective outcomes, vaginal length, quality of life, and urinary and anal incontinence. Statistical analysis was conducted using Fisher's exact, Mann-Whitney U, and Student's t tests. RESULTS: At 12 months, prolapse recurrence occurred in 2.5% (CI 0.7-8.8%) of patients in group A and in 6.7% (CI 2.9-14.7%) in group B. Postoperative vaginal length was 8.3 ± 0.78 cm in group A and 6.4 ± 1.1 cm in group B (p < 0.001). The Patient Global Impression of Improvement questionnaire revealed that 76 patients (96.2%) in group A versus 64 (85%) in group B were very satisfied (p < 0.03). Both groups showed an improvement in urinary symptoms and quality of life. CONCLUSIONS: The modified McCall culdoplasty showed successful anatomical and functional outcomes, with a tendency towards lower recurrence rates than the traditional McCall procedure. Further long-term studies are needed to confirm our data.

2.
Mol Oncol ; 18(10): 2586-2600, 2024 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-38923749

RESUMO

Endometrioid ovarian cancers (EOvC) are usually managed as serous tumors. In this study, we conducted a comprehensive molecular investigation to uncover the distinct biological characteristics of EOvC. This retrospective multicenter study involved patients from three European centers. We collected clinical data and formalin-fixed paraffin-embedded (FFPE) samples for analysis at the DNA level using panel-based next-generation sequencing and array-comparative genomic hybridization. Additionally, we examined mRNA expression using NanoString nCounter® and protein expression through tissue microarray. We compared EOvC with other ovarian subtypes and uterine endometrioid tumors. Furthermore, we assessed the impact of molecular alterations on patient outcomes, including progression-free survival (PFS) and overall survival (OS). Preliminary analysis of clinical data from 668 patients, including 86 (12.9%) EOvC, revealed more favorable prognosis for EOvC compared with serous ovarian carcinoma (5-year OS of 60% versus 45%; P = 0.001) driven by diagnosis at an earlier stage. Immunohistochemistry and copy number alteration (CNA) profiles of 43 cases with clinical data and FFPE samples available indicated that EOvC protein expression and CNA profiles were more similar to endometrioid endometrial tumors than to serous ovarian carcinomas. EOvC exhibited specific alterations, such as lower rates of PTEN loss, mutations in DNA repair genes, and P53 abnormalities. Survival analysis showed that patients with tumors harboring loss of PTEN expression had worse outcomes (median PFS 19.6 months vs. not reached; P = 0.034). Gene expression profile analysis confirmed that EOvC differed from serous tumors. However, comparison to other rare subtypes of ovarian cancer suggested that the EOvC transcriptomic profile was close to that of ovarian clear cell carcinoma. Downregulation of genes involved in the PI3K pathway and DNA methylation was observed in EOvC. In conclusion, EOvC represents a distinct biological entity and should be regarded as such in the development of specific clinical approaches.


Assuntos
Carcinoma Endometrioide , Neoplasias Ovarianas , Humanos , Feminino , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/patologia , Neoplasias Ovarianas/metabolismo , Carcinoma Endometrioide/genética , Carcinoma Endometrioide/patologia , Carcinoma Endometrioide/metabolismo , Carcinoma Endometrioide/mortalidade , Pessoa de Meia-Idade , Idoso , Adulto , Estudos Retrospectivos , Variações do Número de Cópias de DNA/genética , Regulação Neoplásica da Expressão Gênica , Idoso de 80 Anos ou mais , Prognóstico
3.
J Clin Ultrasound ; 52(5): 619-628, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-38549367

RESUMO

Robert's uterus is a rare Müllerian duct anomaly (MDA) characterized by complete asymmetric septum dividing uterine cavity into two non-communicating parts. This study offers insights into diagnosing and management of this condition in a young patient, and a systematic literature review. The review included 19 studies from 2013 to 2023. 11.4% of women reported a history of miscarriage and 5.7% primary infertility. Dysmenorrhea was the most frequent symptom (54.3%), and 14.3% of patients had a coexisting endometriosis. The surgical interventions most commonly combine laparoscopic and hysteroscopic techniques. Robert's uterus requires heightened clinical awareness for early diagnosis, particularly in young women.


Assuntos
Útero , Feminino , Humanos , Histeroscopia/métodos , Ductos Paramesonéfricos/anormalidades , Ductos Paramesonéfricos/cirurgia , Anormalidades Urogenitais/cirurgia , Anormalidades Urogenitais/diagnóstico por imagem , Útero/anormalidades , Útero/diagnóstico por imagem , Útero/cirurgia , Criança
4.
Medicina (Kaunas) ; 60(1)2024 Jan 03.
Artigo em Inglês | MEDLINE | ID: mdl-38256351

RESUMO

Objective: To compare the vaginal cuff dehiscence (VCD) rates using Vicryl (Poliglactyn 910) and Polydioxanone (PDS) in patients who underwent laparoscopic hysterectomy. Materials and methods: A retrospective, monocentric study was conducted, including all patients undergoing laparoscopic hysterectomy at the Department of Obstetrics and Gynaecology, Azienda di Rilievo Nazionale e di Alta Specializzazione (ARNAS) Garibaldi Nesima, Catania, between January 2014 and December 2021. Patients underwent hysterectomy for benign gynecologic pathologies (endometriosis, leiomyomas, or benign pelvic pathologies) or malignant gynecologic pathologies (endometrium cancer, complex endometrial hyperplasia, ovarian cancer, cervix cancer, or uterine carcinosarcoma). The Z-score calculation was performed to find eventual statistically significant differences between the two populations regarding VCD rates. Results: Laparoscopic vaginal cuff closure was performed, with Vicryl sutures in 202 patients and PDS sutures in 184 women. Demographic and baseline characteristics were not significantly different in the two groups. VCD occurred in three patients in the Vicryl group and did not occur in the PDS group. The three cases of VCD were precipitated by intercourses that occurred within 90 days of surgery. However, there was not a significant statistical difference between the two groups regarding VCD (p = 0.09). Conclusions: Vicryl and PDS sutures seem to be similar for vaginal cuff closure in laparoscopic hysterectomy. The VCD rate was low, and the observed differences between the Vicryl and PDS groups did not reach statistical significance. Further research through prospective studies is essential.


Assuntos
Laparoscopia , Polidioxanona , Gravidez , Feminino , Humanos , Polidioxanona/uso terapêutico , Poliglactina 910/uso terapêutico , Estudos Prospectivos , Estudos Retrospectivos , Laparoscopia/efeitos adversos , Histerectomia/efeitos adversos
5.
Case Rep Womens Health ; 39: e00541, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37727779

RESUMO

Meningiomas are rare benign tumors during pregnancy. They can put both the mother and the fetus at risk because rapid changes in size may occur. The study reports a case of olfactory groove meningioma in a 34-year-old pregnant woman with visual impairment, anosmia, and dysgeusia that increased in severity during the 29th week of gestation. Magnetic resonance imaging showed an olfactory groove meningioma. The patient underwent a preterm cesarean section to avoid the worsening of the clinical condition due to intracranial compression phenomena. A computed tomography scan of the brain supported the diagnosis. The surgical intervention occurred on the third day after delivery. The clinical course was uneventful and the chiasmal syndrome improved in the following 2 months. Meningiomas in pregnancy may present unique challenges and have a wide array of clinical presentations. Management of maternal meningiomas can be complex and requires a multidisciplinary approach. The treatment decision largely depends on the size and location of the tumor, the presence of symptoms, gestational age, and fetal well-being. Further research is needed to enhance the understanding of the underlying mechanisms and improve management approaches for this rare condition.

6.
J Clin Med ; 12(5)2023 Feb 21.
Artigo em Inglês | MEDLINE | ID: mdl-36902513

RESUMO

BACKGROUND: Aggressive angiomyxoma is a rare mesenchymal tumour of the genital tract with a high incidence in women of reproductive age. The aim of our work is to understand which is the best management strategy for this condition, starting from the description of a rare case report up to the performance of a narrative review of the literature. METHODS: We report a case of a 46-year-old woman who came to our attention because of the growth of a 10-centimetre pedunculated, non-soft, non-tender mass of the left labium majus. She underwent surgical excision, and the histologic diagnosis was aggressive angiomyxoma. Due to a lack of tumour-free margins, radicalization surgery was carried out after three months. A review of the literature of the last ten years was performed following the PRISMA statement on MEDLINE (PubMed). We obtained data from twenty-five studies describing thirty-three cases. RESULTS: Aggressive angiomyxoma is characterized by a high recurrence rate of between 36 and 72% after surgery. There is no universal consensus about hormonal therapy, and most studies (85%) describe surgical excision followed by only clinical and radiological follow-up. CONCLUSION: Wide surgical excision is the gold-standard treatment for aggressive angiomyxoma, succeeded by either clinical or radiological (ultrasound or MRI) follow-up.

7.
Ann Surg ; 277(5): 821-828, 2023 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-35946822

RESUMO

OBJECTIVE: To reach global expert consensus on the definition of TOLS in minimally invasive and open liver resection among renowned international expert liver surgeons using a modified Delphi method. BACKGROUND: Textbook outcome is a novel composite measure combining the most desirable postoperative outcomes into one single measure and representing the ideal postoperative course. Despite a recently developed international definition of Textbook Outcome in Liver Surgery (TOLS), a standardized and expert consensus-based definition is lacking. METHODS: This international, consensus-based, qualitative study used a Delphi process to achieve consensus on the definition of TOLS. The survey comprised 6 surgical domains with a total of 26 questions on individual surgical outcome variables. The process included 4 rounds of online questionnaires. Consensus was achieved when a threshold of at least 80% agreement was reached. The results from the Delphi rounds were used to establish an international definition of TOLS. RESULTS: In total, 44 expert liver surgeons from 22 countries and all 3 major international hepato-pancreato-biliary associations completed round 1. Forty-two (96%), 41 (98%), and 41 (98%) of the experts participated in round 2, 3, and 4, respectively. The TOLS definition derived from the consensus process included the absence of intraoperative grade ≥2 incidents, postoperative bile leakage grade B/C, postoperative liver failure grade B/C, 90-day major postoperative complications, 90-day readmission due to surgery-related major complications, 90-day/in-hospital mortality, and the presence of R0 resection margin. CONCLUSIONS: This is the first study providing an international expert consensus-based definition of TOLS for minimally invasive and open liver resections by the use of a formal Delphi consensus approach. TOLS may be useful in assessing patient-level hospital performance and carrying out international comparisons between centers with different clinical practices to further improve patient outcomes.


Assuntos
Fígado , Complicações Pós-Operatórias , Humanos , Técnica Delphi , Consenso , Complicações Pós-Operatórias/epidemiologia , Inquéritos e Questionários , Fígado/cirurgia
8.
J Clin Med ; 11(19)2022 Sep 29.
Artigo em Inglês | MEDLINE | ID: mdl-36233651

RESUMO

SYNOPSIS: Nowadays there are no clinical, laboratory, or ultrasound criteria to differentiate ectopic tubal pregnancy from tubal molar pregnancy, so a preoperative diagnosis is not possible. OBJECTIVE: Tubal ectopic hydatidiform moles are a rare type of gestational trophoblastic disease. The aim of our work is to understand if it is possible to diagnose, preoperatively, a tubal ectopic molar pregnancy, starting from the evaluation of a complicated case report up to performing a review of the literature. MATERIALS AND METHODS: A 27-year-old woman was referred to our department for right pelvic pain, vaginal bleeding, and positive beta-hCG (590 mUI/mL). At the ultrasound, the uterine cavity was empty and a unilocular cyst of 15 mm below the right ovary, suspicious of ectopic pregnancy, was described. Serial measurements of daily beta-hCG (2031 → 2573 → 3480 mUI/mL) and, after five days, a laparoscopic salpingectomy, were performed. The pathologist confirmed a diagnosis of "incomplete invasive vesicular mole with extrauterine implant". A review of the literature was performed, following the PRISMA statement, and searching all the articles related to this topic in the last ten years from PUBMED. We obtained data from thirteen studies, describing fourteen cases. DISCUSSION: Considering the data from the literature, the main clinical symptoms were pelvic pain (100%), vaginal bleeding (64%), vomiting (7%), and fever (7%). By ultrasound examination, left adnexal mass on ten women (72%), and right adnexal mass on four (28%), were described. An assessment of ectopic pregnancy was made in all cases, but no preoperative diagnosis of tubal molar pregnancy was made. Beta-hCG levels were the same as patients with ectopic tubal pregnancy. CONCLUSION: Nowadays there are no clinical, laboratory, or ultrasound criteria to differentiate ectopic tubal pregnancy from tubal molar pregnancy.

9.
Case Rep Obstet Gynecol ; 2022: 6788992, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35875339

RESUMO

Objective: Uterine rupture (UR) during pregnancy is an obstetric emergency that could determine poor maternal and neonatal outcomes. There are many factors that could increase the risk of UR, such as a previous myomectomy. The aim of this study is to evaluate the role of a previous myomectomy in a spontaneous UR in pregnancy. Methods: A 33-year-old primigravida comes to our obstetric emergency room for pelvic pain at 29 weeks of gestation. In her medical history, there were two previous surgical operations of abdominal myomectomy, one in 2015 and one in January 2021 (6 months before conception). After 34 minutes, a pubo-subumbilical longitudinal laparotomy was performed for pathological decelerations in the cardiotocography. In the peritoneal cavity, there was 500 mL of blood serum liquid. The right arm and shoulder of the fetus were extending out of the uterus across a breach of 5 cm near the right tubal corner. A corporal incision was performed, and a healthy baby was born and moved to neonatal intensive unit care. Results: A UR can occur at any stage of pregnancy, mostly during the third trimester of pregnancy. Risk factors that increase the incidence of a uterine rupture after myomectomy include a short period (i.e., <12 months) between the myomectomy and conception, the opening of the endometrial cavity, and large myomas (with a maximum diameter above 4 cm). Uterine rupture during pregnancy after abdominal myomectomy seems to be less frequent than after a laparoscopic one. Conclusion: Uterine rupture is an obstetric emergency; it is mandatory to consider this eventuality in pregnancy, particularly in the third trimester, if there was a previous laparoscopic myomectomy in the anamnesis of the patient.

10.
Front Surg ; 9: 856915, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-35449556

RESUMO

Objective: Isolated torsion of a fallopian tube is a rare event and it is extremely difficult to be diagnosed in pregnancy. The aim of this study is to present a clinical case report that occurred in our department and to summarize the latest evidence about tubal torsion in pregnancy. Methods: We reported data, ultrasonographic features and an intra-operative image of a case report of tubal torsion in a term pregnancy. Then a review of the literature was performed following the PRISMA statement: we searched all the articles related to tubal torsion in pregnancy in the last 10 years from the international electronic bibliographic database PUBMED. We collected data regarding population characteristics, clinical features, treatment, and feto-maternal outcomes. Results: According to our search strategy, 10 articles were included. The main clinical symptoms were abdominal pelvic pain (100%), nausea, and vomiting (30%). The mean gestational age at the diagnosis was 36 weeks after the last menstrual period in 50% of cases. Ultrasound images showed a cystic lesion in the adnexal area in 70% of cases. In most of the cases, a cesarean section with a contextual salpingectomy was performed. No cases of maternal and fetal death were respectively reported. Conclusion: Isolated torsion of the fallopian tube is a rare obstetric condition but it should be considered in case of acute lower abdominal pain presentation during pregnancy. Depending on gestational age, surgical treatment as soon as possible could prevent a salpingectomy.

11.
J Matern Fetal Neonatal Med ; 35(22): 4258-4262, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33207975

RESUMO

INTRODUCTION: The purpose of the study was to evaluate the screening performance of combined test (based on the measurement of nuchal translucency, pregnancy-associated plasma protein A, free ß-human chorionic gonadotropin, and maternal age) and fetal DNA screening (NIPS) for trisomies 21 (T21), 18 (T18), and 13 (T13). MATERIAL AND METHODS: Women who accepted screening had a first-trimester combined test (pregnancy-associated plasma protein A, free ß-human chorionic gonadotropin, nuchal translucency interpreted with maternal age) and fetal DNA. RESULTS: Among 302 women screened (including 4 with affected pregnancies), our study demonstrated that DNA screening for trisomies 21, 18, and 13 achieved a detection rate of 100% with a false-positive rate of 0.02%, overcoming the traditional combined test with 75% of sensitivity and 4.7% of false-positive rate. In particular, fetal DNA may be useful in case of intermediate risk, in order to avoid invasive diagnostic procedures such villocentesis and amniocentesis. Because of fetal DNA costs, it can be used in clinical practice as a second step screening in case of intermediate or high risk at combined test. CONCLUSION: Fetal DNA screening may be successfully implemented in routine care, achieving a high detection rate, low false-positive rate, and, consequently, greater safety with fewer invasive diagnostic tests than other methods of screening.


Assuntos
Síndrome de Down , Proteína Plasmática A Associada à Gravidez , Aneuploidia , Gonadotropina Coriônica Humana Subunidade beta , DNA , Feminino , Humanos , Idade Materna , Medição da Translucência Nucal , Gravidez , Primeiro Trimestre da Gravidez , Proteína Plasmática A Associada à Gravidez/genética , Diagnóstico Pré-Natal/métodos , Trissomia/diagnóstico
12.
J Obstet Gynaecol ; 40(2): 222-227, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31390918

RESUMO

Our study assessed the safety and clinical outcomes of hysteropexy with a single-incision mesh associated with a modified culdoplasty, for the surgical management or prevention of enterocele, in women with pelvic organ prolapse (POP). We carried out a 1-year prospective single-cohort study, including 51 women with symptomatic, multi-compartmental POP. Anatomical outcome was assessed with a POP-Q system and the subjective outcomes were assessed using ICSQ-SF and PGI-I. One-year follow-up data were available for 48 out of 51 patients. The POP-Q cure rate was 91%, 83% of patients were satisfied or very satisfied (PGI-I ≤ 2). No major complications occurred; the most common minor complications were mesh erosion (6%) and pelvic pain (8%). Lower urinary tract dysfunctions arose in 16% of the patients. Anatomical prolapse recurrence (POP-Q stage ≥2) in anterior or apical compartments occurred in four patients (8%). No case of de novo prolapse occurred in the posterior compartment. None of the patients required further surgery for recurrent prolapse. This standardised procedure provided satisfactory 'restitutio ad integrum' of the vaginal anatomy and symptom relief.Impact statementWhat is already known on this subject? The post-surgical evidence of de novo prolapse in untreated compartments is well-known, especially in prosthetic surgery. The insertion of polypropylene mesh causes a vigorous support, consequently the forces on the pelvic floor are transmitted to the least consolidated vaginal compartment. A lack of simultaneous repair of all the segments involved in the POP increases the risk of surgical recurrence even in those areas that did not appear to be pre-operatively affected by the uterine descensus.What the results of this study add? Our prospective study showed that hysteropexy with a single-incision vaginal support system plus a modified culdoplasty was able to prevent the enterocele and the occurrence of prolapse in the posterior compartment, by closing the Douglas pouch and restoring the connection of the rectovaginal septum with the apical support.What the implications are of these findings for clinical practice and/or further research? This study may be relevant for clinicians in selecting the technique for pelvic floor surgery, and it may be of interest for researchers investigating the reasons for de novo occurrence of posterior segment prolapse.


Assuntos
Culdoscopia/métodos , Hérnia/prevenção & controle , Histeroscopia/métodos , Prolapso de Órgão Pélvico/cirurgia , Procedimentos de Cirurgia Plástica/métodos , Complicações Pós-Operatórias/prevenção & controle , Idoso , Feminino , Humanos , Pessoa de Meia-Idade , Satisfação do Paciente , Estudos Prospectivos , Recidiva , Slings Suburetrais , Resultado do Tratamento , Vagina/cirurgia
13.
Arch Gynecol Obstet ; 294(3): 615-22, 2016 09.
Artigo em Inglês | MEDLINE | ID: mdl-27040423

RESUMO

PURPOSE: We aimed to investigate the safety, adequacy and oncological outcomes of laparoscopic surgery (LS) and robot-assisted laparoscopic (RALS) approach for the treatment of early-stage ovarian cancer. METHODS: We performed a multicentric, retrospective cohort study, enrolling patients affected by early-stage ovarian cancer who underwent laparoscopic management for early-stage ovarian cancer between 2006 and 2014. Surgical, pathologic and oncologic outcome data were analyzed to compare LS and RALS performances for early-stage ovarian cancer management. RESULTS: 39 patients underwent laparoscopic staging for presumed stage I ovarian cancer: 23 underwent LS and 16 underwent RALS. The mean operative time was 281 ± 81 min (LS 288 ± 88 min; RALS 270 ± 72 min; p = 0.49). No conversion to laparotomy occurred, and one patient had intraoperative hemorrhage requiring blood transfusion. Four patients (10.2 %) experienced postoperative complications of grade 3 according to the Clavien-Dindo classification. The median hospital stay was 3 days (1-15); the differences were not statistically significant between two groups [LS = 4 (1-15); RALS = 3 (1-7); p = 0.43]. During a mean follow-up period of 19.4 months, tumor recurrence occurred in 3 patients: 2 (8.7 %) in the LS group and 1 (6.25 %) in the RALS group. Overall survival and disease-free survival for the entire cohort were 97.4 and 92.3 %, respectively. CONCLUSIONS: LS and RALS seem to be adequate and feasible for the treatment of early-stage ovarian cancer in terms of the surgical outcomes and oncological safety. Furthermore, in our experience, perioperative outcomes are comparable between LS and RALS making them an acceptable approach in selected patients.


Assuntos
Laparoscopia/métodos , Neoplasias Ovarianas/cirurgia , Procedimentos Cirúrgicos Robóticos/métodos , Adulto , Idoso , Estudos de Coortes , Estudos de Viabilidade , Feminino , Humanos , Tempo de Internação , Pessoa de Meia-Idade , Neoplasias Ovarianas/mortalidade , Estudos Retrospectivos , Resultado do Tratamento
15.
J Hepatobiliary Pancreat Sci ; 20(2): 120-4, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23053354

RESUMO

BACKGROUND/PURPOSE: Laparoscopic hepatectomies have seen a worldwide proliferation. Major anatomic resections, which were initially considered unsuitable for laparoscopy, are currently confined to a few centers of expertise. The aim of this study was to discuss the current trends and techniques in laparoscopic major hepatectomy in Europe. METHODS: The prospective databases of ten European centers were combined to provide answers to a questionnaire that had been addressed to all European teams known to perform laparoscopic liver surgery. RESULTS: Between 1996 and 2011 a total of 2245 laparoscopic liver resections have been carried out, of which 495 (22 %) were major resections. The proportion of laparoscopic right and left hepatectomies varied between 4 and 40 % of all major hepatectomies of the same type. Benign, primary malignant and metastatic lesions were, respectively, 22.4, 19.6 and 58 % of all indications. The different techniques and approaches, as regards hand assistance, hepatic inflow and outflow control, liver mobilization and concomitant colectomies, are discussed. CONCLUSIONS: To date, an important level of experience of laparoscopic liver resection has been accumulated in Europe, and experience of major hepatectomies is constantly increasing. However, they remain technically very demanding procedures which should be confined to expert surgeons who have already acquired considerable experience with simpler laparoscopic liver resections.


Assuntos
Hepatectomia/métodos , Hepatectomia/estatística & dados numéricos , Laparoscopia/estatística & dados numéricos , Hepatopatias/cirurgia , Europa (Continente) , Humanos , Estudos Prospectivos , Inquéritos e Questionários
16.
Congenit Anom (Kyoto) ; 52(1): 64-5, 2012 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-22348786

RESUMO

Severe anomalies of the forebrain together with reduction limb anomalies are a rare congenital anomalies association. We report a prenatal diagnosis of acalvaria, anencephaly and thumb agenesis in a voluntary terminated fetus and discuss the role of genetic counseling.


Assuntos
Anencefalia/diagnóstico , Defeitos do Tubo Neural/diagnóstico , Diagnóstico Pré-Natal/métodos , Polegar/anormalidades , Encéfalo/anormalidades , Feminino , Aconselhamento Genético , Humanos , Gravidez , Prosencéfalo/embriologia
17.
Front Biosci (Elite Ed) ; 3(1): 221-6, 2011 01 01.
Artigo em Inglês | MEDLINE | ID: mdl-21196301

RESUMO

The proliferation of the nanotechnologies with the production of engineered nanoparticles presents a dilemma to regulators regarding hazard identification mostly for human health. We investigated the presence of inorganic micro and nanosized contamination in fetal liver and kidney tissues by Field Emission Gun-Environmental Scanning Electron Microscope (FEGESEM) innovative observations. An observational study in 16 fetuses, complicated (n=8) or not (n=8) by neural tube defects, whose mothers obtained the authorization for abortion between 21-23 weeks of gestation was carried out. Heavy metals concentrations in maternal blood were undetectable. FEGESEM assessment showed particles of iron, silicon, aluminum and magnesium in different tissues analyzed. The mean size and the number of the foreign bodies detected in kidney and liver tissues were higher in NTD fetuses as well as the number of total particles (P < 0.05, for all). The present study shows first the presence of xenobiotic, nanoscaled contamination, not detectable in maternal blood in fetuses. Data are suggestive and open-up a new clue for further investigations to elucidate the relationship between pollution at nanoscale stage and multiorgan damage.


Assuntos
Feto Abortado/química , Poluentes Ambientais/análise , Rim/química , Fígado/química , Metais Pesados/análise , Nanopartículas/análise , Feto Abortado/patologia , Poluentes Ambientais/sangue , Feminino , Humanos , Rim/ultraestrutura , Fígado/ultraestrutura , Metais Pesados/sangue , Microscopia Eletrônica de Varredura , Defeitos do Tubo Neural/patologia , Gravidez , Espectrofotometria , Estatísticas não Paramétricas
18.
Congenit Heart Dis ; 5(5): 450-3, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-21087431

RESUMO

Craniorachischisis is a rare neural tube defect in which both acrania and a complete schisis of the vertebral column are present. Heterotaxy results from failure to establish normal left-right asymmetry during embryonic development and is characterized by a variable group of congenital anomalies that include complex cardiac malformations and situs inversus or situs ambiguous. We report a diamniotic twin pregnancy with two malformed fetuses affected one by craniorachischisis and the other by heterotaxya with paired right-sided viscera, asplenia, and complex congenital heart disease. The occurrence of severe congenital anomalies in both members of the twin pair implies a strong influence of genetic factors. At present, the genetic basis determining the different phenotypes observed in our twins is unknown. Our case with the simultaneous presence of both midline and laterality defects in twins supports the hypothesis that the midline plays a critical role in establishing left-right asymmetry in the body and that a mutation in a gene responsible for both heterotaxy and midline defects may be strongly supposed.


Assuntos
Anormalidades Múltiplas , Cardiopatias Congênitas/embriologia , Defeitos do Tubo Neural/embriologia , Aborto Induzido , Dextrocardia/diagnóstico por imagem , Dextrocardia/embriologia , Dextrocardia/genética , Feminino , Morte Fetal , Doenças Genéticas Ligadas ao Cromossomo X/diagnóstico por imagem , Doenças Genéticas Ligadas ao Cromossomo X/embriologia , Doenças Genéticas Ligadas ao Cromossomo X/genética , Genótipo , Idade Gestacional , Cardiopatias Congênitas/diagnóstico por imagem , Cardiopatias Congênitas/genética , Síndrome de Heterotaxia , Humanos , Defeitos do Tubo Neural/diagnóstico por imagem , Defeitos do Tubo Neural/genética , Fenótipo , Gravidez , Situs Inversus/diagnóstico por imagem , Situs Inversus/embriologia , Situs Inversus/genética , Ultrassonografia Pré-Natal
19.
Angiology ; 61(8): 802-6, 2010 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-20498147

RESUMO

Portopulmonary hypertension (PPHTN) is a rare complication in patients with portal hypertension. A role of endothelin 1 (ET-1) and other cytokines was demonstrated in primary pulmonary hypertension but not in PPHTN. We evaluated the possible role of ET-1, interleukin 6 (IL-6), interleukin 1ß (IL-1ß), and tumor necrosis factor alpha (TNF-α) in the pathogenesis of PPHTN. Plasmatic concentrations of ET-1, IL-6, IL-1ß, and TNF-α were measured in patients with pulmonary systolic arterial pressure (PAPs) >30 mm Hg and in patients with cirrhosis. In all, Six out of 11 patients with PAPs >30 mm Hg had PPHTN on right heart catheterization. The remaining 10 patients had an hyperdynamic circulation (HC). In PPHTN patients, ET-1 and IL-6 were significantly higher compared with HC and patients with cirrhosis. Endothelin 1 and IL-6 could be implicated in the pathogenesis of PPHTN. On the basis of these results, ET-1 receptor antagonists or anti-IL-6 could have a rationale in the treatment of PPHTN.


Assuntos
Citocinas/sangue , Hipertensão Portal/sangue , Hipertensão Pulmonar/sangue , Cirrose Hepática/cirurgia , Transplante de Fígado , Cateterismo Cardíaco , Ecocardiografia Doppler em Cores , Endotelina-1/sangue , Humanos , Hipertensão Portal/complicações , Hipertensão Portal/diagnóstico por imagem , Hipertensão Pulmonar/complicações , Hipertensão Pulmonar/diagnóstico , Hipertensão Pulmonar/fisiopatologia , Interleucina-1beta/sangue , Interleucina-6/sangue , Cirrose Hepática/sangue , Pessoa de Meia-Idade , Fator de Necrose Tumoral alfa/sangue
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