RESUMEN
Our aim was to determine the methylenetetrahydrofolate reductase (MTHFR) C677T polymorphism in hypertensive disorders during pregnancy. We conducted our experiments on isolated DNA samples of 73 healthy pregnant, 101 severe pre-eclamptic and 63 HELLP syndrome women in this study. The MTHFR C677T polymorphism was determined by quantitative real-time PCR method. A significantly higher number of the TT genotype (25.4%) was found in the HELLP syndrome group compared to the healthy (8.2%) and severe pre-eclamptics group (8.9%) (P=0.03). The frequency of the mutant T allele was found to be 45.2% of HELLP syndrome, whereas it was 32.2% of the healthy pregnant (P=0.03) and 30.2% (P=0.008) of the severe pre-eclamptic patients. In the HELLP group a high frequency of eclampsia was observed (12.6%) and among them 75% had the MTHFR C677T mutation.
Asunto(s)
Frecuencia de los Genes , Síndrome HELLP/genética , Metilenotetrahidrofolato Reductasa (NADPH2)/genética , Reacción en Cadena de la Polimerasa/métodos , Polimorfismo Genético , Adulto , Femenino , Genotipo , Humanos , EmbarazoRESUMEN
Kartagener's syndrome is an inherited disease characterized by a triad of symptoms: bronchiectasis, situs inversus and sinusitis resulting from defective cilial motility. There are few reports in the literature regarding the optimum anesthetic technique in patients with Kartagener's syndrome. The main anesthetic considerations are related to the respiratory system and increased risk of infection. We report the case of a woman with Kartagener's syndrome and a twin pregnancy conceived by in-vitro fertilization-embryo transfer, who underwent cesarean section under spinal anesthesia. Despite recurrent pulmonary problems, the twin pregnancy resulted in a successful outcome. This was facilitated by a close working relationship between the obstetrician, anesthesiologist and patient.
Asunto(s)
Anestesia Obstétrica , Anestesia Raquidea , Cesárea , Síndrome de Kartagener/complicaciones , Adulto , Femenino , Fertilización In Vitro , Humanos , Enfermedades Pulmonares/complicaciones , Embarazo , GemelosRESUMEN
OBJECTIVE: To assess the outcomes of bilateral hypogastric (internal iliac) ligation performed to control intractable pelvic hemorrhage and avoid hysterectomy. METHODS: A review of indications and outcomes for 117 cases of bilateral hypogastric artery ligation over 15 years (1990-2004). RESULTS: Apart from a slight lesion to the hypogastric vein, no complications were observed. Hemorrhage was effectively controlled in all 37 obstetric cases. In 13 of these cases, the uterus was preserved even when there was cervical pregnancy, placenta previa, placental abruption, uterine atony, and uterine rupture, and 4 women were delivered of mature infants. Hemorrhage was effectively controlled in 41 of 80 gynecologic cases. Prophylactic reduction of pelvic blood flow was the indication for the procedure in 39 cases, 5 of whom involving Jehovah's Witnesses adverse to blood transfusion. The uterus was preserved in only a few of the 41 controlled cases, but one woman (so far) was delivered of a mature infant. CONCLUSION: Hypogastric artery ligation was found to be indicated if (1) life-threatening pelvic hemorrhage could not be controlled by conservative methods; (2) prophylactic reduction of pelvic blood flow was needed to prevent anticipated hemorrhage; and (3) preservation of reproductive function was desired. The procedure was found to be safe and usually effective and should be taught during obstetric and gynecologic training.
Asunto(s)
Arteria Ilíaca/cirugía , Hemorragia Posoperatoria/cirugía , Hemorragia Posparto/cirugía , Parto Obstétrico , Femenino , Humanos , Ligadura/métodos , Embarazo , Estudios Retrospectivos , Resultado del Tratamiento , Neoplasias del Cuello Uterino/cirugíaRESUMEN
OBJECTIVE: The purpose of this study was to assess the 5-year survival and morbidity in cases with radical hysterectomy and pelvic lymphadenectomy with pre- and postoperative irradiation performed to treat Stage IA2-IIB cervical cancer. METHODS: During a 10(1/2)-year period between July 1990 and December 2000, 501 consecutive radical hysterectomies with bilateral pelvic lymphadenectomy were performed by the same gynecological surgeon in Stage IA2, IB, IIA and IIB cervical cancer. The patients were treated by pre- and postoperative irradiation as well. RESULTS: Apart from recurrence, perioperative complications were minimal with no long-term morbidity. The absolute 5-year survival rates for the patients in Stage IA2, IB1, IB2, IIA and IIB were 94.4%, 90.7%, 84.1%, 71.1%, and 55.4%, respectively. The respective 5-year survival rates for patients without or with lymph node metastasis were 94.5% and 33.3% in Stage IB2, 81.7% and 48.7% in Stage IIA and 70.2% and 36.5% in Stage IIB, respectively. CONCLUSIONS: Nerve-sparing radical hysterectomy with pelvic lymph node dissection and pre- and postoperative irradiation remains the treatment of choice for most patients with early-stage and even Stage IIB cervical cancer. The radicalism and extent of lymph node dissection and parametrial resection should be individualized and tailored to tumor- and patient-related risk factors.
Asunto(s)
Plexo Hipogástrico/lesiones , Histerectomía/métodos , Escisión del Ganglio Linfático/métodos , Diafragma Pélvico/inervación , Neoplasias del Cuello Uterino/cirugía , Adulto , Femenino , Humanos , Plexo Hipogástrico/cirugía , Histerectomía/efectos adversos , Estudios Longitudinales , Escisión del Ganglio Linfático/efectos adversos , Persona de Mediana Edad , Estadificación de Neoplasias , Diafragma Pélvico/cirugía , Análisis de Supervivencia , Neoplasias del Cuello Uterino/mortalidad , Neoplasias del Cuello Uterino/patología , Útero/irrigación sanguíneaRESUMEN
BACKGROUND: The involvement of the placenta in the pathogenesis of preeclampsia and HELLP syndrome is well established, and placental lesions are also similar in these two syndromes. Here we aimed to examine the placental transcriptome and to identify candidate biomarkers in early-onset preeclampsia and HELLP syndrome. METHODS: Placental specimens were obtained at C-sections from women with early-onset preeclampsia and HELLP syndrome, and from controls who delivered preterm or at term. After histopathological examination, fresh-frozen placental specimens were used for microarray profiling and validation by qRT-PCR. Differential expression was analysed using log-linear models while adjusting for gestational age. Gene ontology and pathway analyses were used to interpret gene expression changes. Tissue microarrays were constructed from paraffin-embedded placental specimens and immunostained. RESULTS: Placental gene expression was gestational age-dependent among preterm and term controls. Out of the 350 differentially expressed genes in preeclampsia and 554 genes in HELLP syndrome, 224 genes (including LEP, CGB, LHB, INHA, SIGLEC6, PAPPA2, TREM1, and FLT1) changed in the same direction (elevated or reduced) in both syndromes. Many of these encode proteins that have been implicated as biomarkers for preeclampsia. Enrichment analyses revealed similar biological processes, cellular compartments and biological pathways enriched in early-onset preeclampsia and HELLP syndrome; however, some processes and pathways (e.g., cytokine-cytokine receptor interaction) were over-represented only in HELLP syndrome. CONCLUSION: High-throughput transcriptional and tissue microarray expression profiling revealed that placental transcriptomes of early-onset preeclampsia and HELLP syndrome largely overlap, underlying a potential common cause and pathophysiologic processes in these syndromes. However, gene expression changes may also suggest a more severe placental pathology and pronounced inflammatory response in HELLP syndrome than in preeclampsia.
Asunto(s)
Perfilación de la Expresión Génica , Síndrome HELLP/genética , Análisis por Micromatrices , Placenta/metabolismo , Preeclampsia/diagnóstico , Preeclampsia/genética , Adulto , Estudios de Casos y Controles , Diagnóstico Precoz , Femenino , Expresión Génica/fisiología , Perfilación de la Expresión Génica/métodos , Edad Gestacional , Síndrome HELLP/diagnóstico , Síndrome HELLP/metabolismo , Síndrome HELLP/patología , Humanos , Recién Nacido , Análisis por Micromatrices/métodos , Placenta/química , Placenta/patología , Preeclampsia/metabolismo , Preeclampsia/patología , EmbarazoRESUMEN
Insufficient invasion of the spiral arteries by trophoblast cells is associated with the etiology of pre-eclampsia, the syndrome of hemolysis, elevated liver enzymes and low platelet counts (HELLP) and pre-eclampsia-associated intrauterine growth restriction (IUGR). Mannose-binding lectin (MBL) is a component of the innate immune system. MBL-mediated activation of the complement cascade is an important event in the destruction of invading trophoblasts. The gene coding for MBL is polymorphic, and variant alleles result in greatly reduced circulating MBL levels. The aim of this study was to test the association between an MBL polymorphism and pre-eclampsia, HELLP syndrome and IUGR. DNA was extracted from buccal swabs of 51 women with pre-eclampsia, 81 women with HELLP syndrome and 184 healthy pregnant controls. Aliquots were tested for a single nucleotide MBL gene polymorphism at codon 54 by PCR and endonuclease digestion. Homozygosity for the wild-type allele was more frequent in patients with pre-eclampsia (P = 0.04) and HELLP syndrome (P = 0.02) when compared with controls. The presence of the variant allele was more prevalent among controls than in women with pre-eclampsia (P = 0.02) or HELLP syndrome (P = 0.028). Twenty-two (55%) patients with pre-eclampsia and 43 (53%) women with HELLP syndrome delivered an IUGR neonate. MBL-54 heterozygosity was more frequent in controls (27.2%) than in pre-eclamptic women (4.5%, P = 0.025) and those with HELLP syndrome (11.7%, P = 0.05) who delivered an IUGR neonate. Genotype frequencies of neonates born to mothers in all study groups were similar. Carriage of the MBL codon 54 polymorphism protects against pre-eclampsia, HELLP syndrome and IUGR and implies that an MBL-mediated event might be involved in the pathogenesis of these disorders.
Asunto(s)
Retardo del Crecimiento Fetal/genética , Síndrome HELLP/genética , Lectina de Unión a Manosa/genética , Polimorfismo de Nucleótido Simple , Preeclampsia/genética , Adulto , Estudios de Casos y Controles , Codón , Femenino , Frecuencia de los Genes , Predisposición Genética a la Enfermedad , Genotipo , Heterocigoto , Homocigoto , Humanos , Oportunidad Relativa , Embarazo , Medición de Riesgo , Factores de RiesgoRESUMEN
BACKGROUND: Mannose-binding lectin (MBL), a component of the innate immune system, provides a first-line defense against invading microorganisms. Polymorphisms in the MBL gene have been associated with increased risk of infection. Chlamydia trachomatis genital tract infections are a major cause of Fallopian tube occlusion. Our objective was to test whether an MBL codon 54 polymorphism might contribute to development of C. trachomatis-associated tubal damage. METHODS: In a case-control study, 97 women with occluded and 104 women with patent Fallopian tubes were tested for a history of chlamydial infection by serology and for their MBL codon 54 genotype by PCR and restriction fragment length polymorphism analysis. Clinical data were blinded to those performing all laboratory analyses. RESULTS: Women with tubal occlusion who also had a positive chlamydial serology had the highest rate of variant MBL B allele carriage (P<0.001). Among women who were chlamydial antibody negative, allele B carriage was also more frequent in those with blocked, as opposed to patent, Fallopian tubes (P<0.01). CONCLUSIONS: Wild-type allele A homozygosity is protective against, while carriage of the variant allele B is a risk factor for, Fallopian tube occlusion in women who are seropositive or seronegative for C. trachomatis.