RESUMO
Menkes disease (also known as kinky hair disease) is an X-linked recessive neurodegenerative disorder caused by diverse mutations in a copper-transport gene, ATP7A. Affected patients are characterized by kinky hair, hypotonia, and generalized myoclonic seizures. Here, we report a case of Menkes disease in which the patient presented with progressive hypotonia and intractable seizures. A 4-month-old male infant visited our pediatric clinic for focal seizures with blinking eyes. He was generally hypotonic and suffered from malnutrition. The focal seizures became more frequent, and the patient became intractable to anti-seizure medications. An electroencephalogram (EEG) indicated diffuse cerebral dysfunction with focal seizure, and a brain magnetic resonance imaging (MRI) showed tortuous and ectatic intracranial arteries, as well as several ischemic lesions. A genetic analysis was performed, and a c.2473_2474del (p.Leu825fsX1) of the ATP7A gene was detected.
Assuntos
Humanos , Lactente , Masculino , Artérias , Piscadela , Encéfalo , Eletroencefalografia , Epilepsia , Cabelo , Imageamento por Ressonância Magnética , Desnutrição , Síndrome dos Cabelos Torcidos , Hipotonia Muscular , Doenças Neurodegenerativas , ConvulsõesRESUMO
OBJECTIVE: To determine the preferred regimen for women with adenomyosis undergoing in vitro fertilization (IVF), we compared the IVF outcomes of fresh embryo transfer (ET) cycles with or without gonadotropin-releasing hormone (GnRH) agonist pretreatment and of frozen-thawed embryo transfer (FET) cycles following GnRH agonist treatment. METHODS: This retrospective study included 241 IVF cycles of women with adenomyosis from January 2006 to January 2012. Fresh ET cycles without (147 cycles, group A) or with (105 cycles, group B) GnRH agonist pretreatment, and FET cycles following GnRH agonist treatment (43 cycles, group C) were compared. Adenomyosis was identified by using transvaginal ultrasound at the initial workup and classified into focal and diffuse types. The IVF outcomes were also subanalyzed according to the adenomyotic region. RESULTS: GnRH agonist pretreatment increased the stimulation duration (11.5±2.1 days vs. 9.9±2.0 days) and total dose of gonadotropin (3,421±1,141 IU vs. 2,588±1,192 IU), which resulted in a significantly higher number of retrieved oocytes (10.0±8.2 vs. 7.9±6.8, p=0.013) in group B than in group A. Controlled ovarian stimulation for freezing resulted in a significantly higher number of retrieved oocytes (14.3±9.2 vs. 10.0±8.2, p=0.022) with a lower dose of gonadotropin (2,974±1,112 IU vs. 3,421±1,141 IU, p=0.037) in group C than in group B. The clinical pregnancy rate in group C (39.5%) tended to be higher than those in groups B (30.5%) and A (25.2%) but without a significant difference. CONCLUSION: FET following GnRH agonist pretreatment tended to increase the pregnancy rate in patients with adenomyosis. Further large-scale prospective studies are required to confirm this result.
Assuntos
Feminino , Humanos , Gravidez , Adenomiose , Transferência Embrionária , Estruturas Embrionárias , Fertilização in vitro , Congelamento , Hormônio Liberador de Gonadotropina , Gonadotropinas , Oócitos , Indução da Ovulação , Taxa de Gravidez , Estudos Prospectivos , Estudos Retrospectivos , UltrassonografiaRESUMO
OBJECTIVE: To evaluate the efficacy of earlier oocyte retrieval in IVF patients with a premature LH surge on hCG day. METHODS: One hundred forty IVF patients (164 cycles) with premature LH surge on hCG day were included, retrospectively. We divided them into 2 study groups: LH surge with timed ovum pick-up (OPU) 36 hours after hCG injection (group B, 129 premature cycles), and LH surge with earlier OPU within 36 hours after hCG injection (group C, 35 cycles). Control groups were tubal factor infertility without premature LH surge (group A, 143 cycles). RESULTS: The mean age (year) was statistically higher in group C than in groups A or B (38.2+/-5.4 vs. 36.2+/-4.2 vs. 36.8+/-4.9, respectively; p=0.012). The serum LH levels (mIU/mL) on hCG day were significantly higher in group B and C than in group A (22.7+/-14.9 vs. 30.3+/-15.9 vs. 3.2+/-2.9, respectively; p>0.001). Among groups A, B, and C, 4.9%, 31.7%, and 51.4% of the cycles, respectively, had no oocytes, and the overall rates of cycle cancellation (OPU cancellation, no oocyte, or no embryos transferrable) were 15.4%, 65.9%, and 74.3%, respectively. The fertilization rate (%) was significantly higher in group B than in group C (73.2+/-38.9 vs. 47.8+/-42.9, p=0.024). The clinical pregnancy rate was significantly higher in group C than in groups A and B (44.4% vs. 27.3% vs. 9.1%, respectively, p=0.021). However, the miscarriage rate was also higher in group C than in group B (22% vs. 0%, respectively, p=0.026). CONCLUSION: Earlier OPU may not be effective in reducing the risk of cycle cancellation in patients with premature LH surge on hCG day. A larger scale study will be required to reveal the effectiveness of earlier ovum retrieval with premature LH surge.
Assuntos
Feminino , Humanos , Gravidez , Aborto Espontâneo , Estruturas Embrionárias , Fertilização , Fertilização in vitro , Infertilidade , Luteína , Hormônio Luteinizante , Recuperação de Oócitos , Oócitos , Óvulo , Taxa de Gravidez , Estudos RetrospectivosRESUMO
OBJECTIVE: We compared the assisted reproductive technology (ART) outcomes among infertile women with polycystic ovary syndrome (PCOS) treated with IVM, conventional IVF, GnRH agonist, and GnRH antagonist cycles. METHODS: The prospective study included a total of 67 cycles in 61 infertile women with PCOS. The women with PCOS were randomized into three IVF protocols: IVM/IVF with FSH and hCG priming with immature oocyte retrieval 38 hours later (group A, 14 cycles), GnRH agonist long protocol (group B, 14 cycles), and GnRH antagonist multi-dose flexible protocol (group C, 39 cycles). IVF outcomes, such as clinical pregnancy rate (CPR), implantation rate (IR), miscarriage rate (MR), and live birth rate (LBR), were compared among the three groups. RESULTS: Age, BMI, and basal FSH and LH levels did not differ among the three groups. The number of retrieved oocytes and 2 pronucleus embryos was significantly lower in group A compared with groups B and C. The CPR, IR, MR, and LBR per embryo transfer showed no differences among the three groups. There was no incidence of ovarian hyperstimulation syndrome in group A. CONCLUSION: The IR, MR, and LBR in the IVM cycles were comparable to those of the GnRH agonist and GnRH antagonist cycles. The IVM protocol, FSH and hCG priming with oocyte retrieval 38 hours later, is an effective ART option that is comparable with conventional IVF for infertile women with PCOS.
Assuntos
Feminino , Humanos , Gravidez , Aborto Espontâneo , Reanimação Cardiopulmonar , Transferência Embrionária , Estruturas Embrionárias , Hormônio Liberador de Gonadotropina , Incidência , Nascido Vivo , Recuperação de Oócitos , Oócitos , Síndrome de Hiperestimulação Ovariana , Ovário , Síndrome do Ovário Policístico , Taxa de Gravidez , Estudos Prospectivos , Técnicas de Reprodução AssistidaRESUMO
Peritoneal pregnancy is an implantation in the peritoneal cavity exclusive of tubal, ovarian, or intra-ligamentary implantations. This is a rare obstetric complication with high maternal mortality and even higher perinatal mortality, and secondary type was most common. Risk factors for peritoneal pregnancy are previous history of extrauterine pregnancy or tubal surgery pelvic post-inflammatory status or presence of an intra-uterine device. As it is a life-threatening condition, expectant management carries a risk of sudden life-threatening intra-abdominal bleeding and a generally poor fetal prognosis. So, when it is recognized, immediate termination of pregnancy is usually recommended. Early diagnosis of peritoneal pregnancy is difficult, but is important by their life threatening progress course to patients. Recently, we experienced primary peritoneal pregnancy which meets both the original and modified criteria. In this paper, we reported the case of early diagnosed and successfully treated peritoneal pregnancy despite of their diagnosis was incidentally.
Assuntos
Feminino , Humanos , Gravidez , Diagnóstico Precoce , Hemorragia , Mortalidade Materna , Mortalidade Perinatal , Cavidade Peritoneal , Gravidez Ectópica , Prognóstico , Fatores de RiscoRESUMO
OBJECTIVE: The aim of this study was to investigate whether anti-Mullerian hormone (AMH) levels could be predict ovarian poor/hyper response and IVF cycle outcome. METHODS: Between May 2010 and January 2011, serum AMH levels were evaluated with retrospective analysis. Three hundred seventy infertile women undergoing 461 IVF cycles between the ages of 20 and 42 were studied. We defined the poor response as the number of oocytes retrieved was equal or less than 3, and the hyper response as more than 25 oocytes retrieved. Serum AMH was measured by commercial enzyme-linked immunoassay. RESULTS: The number of oocytes retrieved was more correlated with the serum AMH level (r=0.781, p3.55 ng/mL), the groups showed no statistical differences in mature oocyte rates (71.6% vs. 76.5% vs. 74.8%) or fertilization rates (76.9% vs. 76.6% vs. 73.8%), but showed significant differences in clinical pregnancy rates (21.7% vs. 24.1% vs. 40.8%, p=0.017). CONCLUSION: The serum AMH level can be used to predict the number of oocytes retrieved in patients, distinguishing poor and high responders.
Assuntos
Feminino , Humanos , Hormônio Antimülleriano , Fertilização , Fertilização in vitro , Oócitos , Taxa de Gravidez , Estudos Retrospectivos , Sensibilidade e EspecificidadeRESUMO
Assuntos
Humanos , Pessoa de Meia-Idade , Bochecha , Incidência , Boca , Pleura , Tumores Fibrosos SolitáriosRESUMO
PURPOSE: The purpose of this study was to examine the risk of preterm birth in pregnant women with Ureaplasma urealyticum and/or Mycoplasma hominis infection and the prevalence of these organisms in normal pregnancy. METHODS: Between February 2002 and July 2002, we included 43 pregnant women prior to 37 weeks of gestation with definite gross leakage of amniotic fluid (n=16) (group 1), 47 healthy women without any obstetric problems between 18 and 24 weeks of gestation (group 2) and 64 women who delivered fullterm fetuses who had taken cervical swabs around 36 weeks gestation (group 3). Cervical swabs (Dacron(R)) were taken on admission in group 1 and at outpatients in group 2 and 3. Detections of U. urealyticum and M. hominis were done using commercial kits (MYCOFAST(R) Evolution 2, International Microbio Signes, France). RESULTS: There was no significant difference between mid-gestation (group 2) and fullterm (group 3) in cervical swab result. In group 1, the detection rate of Ureaplasma uealyticum was higher in impending preterm birth over 32 weeks of gestational age (15/20, 75%) than 32 weeks or less (10/ 23, 43.4%) (p<0.05). In group 2, there was no significant difference in preterm birth rate between the exposed and the non-exposed to U. urealyticum and/or M. hominis in middle of 2nd trimester. CONCLUSION: U. urealyticum does not seem to be a predictor of preterm birth, and there seems to be some different mechanism according to gestational age. We couldn't varify that M. Hominis and U. urealyticum were related to preterm birth, although U. urealyticum was highly detected in impending preterm birth.
Assuntos
Feminino , Humanos , Gravidez , Líquido Amniótico , Feto , Idade Gestacional , Mycoplasma , Mycoplasma hominis , Trabalho de Parto Prematuro , Pacientes Ambulatoriais , Gestantes , Nascimento Prematuro , Prevalência , Ureaplasma , Ureaplasma urealyticumRESUMO
OBJECTIVE: We investigated whether surgical methods, age, parity and obesity were correlated to endometriosis in patients who had hysterectomy. METHODS: This research was surveyed and reviewed of patients who underwent total abdominal hysterectomy, laparoscopic hysterectomy and vaginal hysterectomy in Kyungpook National University Hospital from 1999 to 2006, based on clinical recordings and pathologic reports. Based on these data, we investigated whether age, parity, obesity and pathologic diagnosis were correlated to prevalence rate of endometriosis. Also we investigated the correlations with anatomic lesion of endometriosis and surgical methods. SPSS version 12.0 chi- square test was conducted as the statistical data. RESULTS: The total 4,830 cases of hysterectomy were undergone. Out of these, endometriosis was found at 125 cases (2.5%). Among them, 76 cases of endometriosis were found at 2,260 cases of abdominal hysterectomy (3.3%). 31 cases of endometriosis were found at 1,589 cases of vaginal hysterectomy (1.95%), and 18 cases of endometriosis were found at 981 cases of laparoscopic hysterectomy (1.83%). The correlation with laparoscopic hysterectomy and endometriosis had the statistically significant high rate (P0.05). CONCLUSION: Even the prevalence of endometriosis was low (2.5%) in total cases of hysterectomy, laparoscopic hysterectomy had more prevalence rate of endometriosis than other types of hysterectomy. because suspicious lesions were inspected carefully, Magnified laparoscopic view make us to identify suspicious endometriotic lesion more clearly than other type of hysterectomy.
Assuntos
Feminino , Humanos , Parede Abdominal , Endometriose , Histerectomia , Histerectomia Vaginal , Intestino Delgado , Isoxazóis , Ligamentos , Obesidade , Ovário , Paridade , Peritônio , PrevalênciaRESUMO