Abnormal fetal movements, micrognathia and pulmonary hypoplasia: a case report. Abnormal fetal movements

<p>Abstract</p> <p>Background</p> <p>Micrognathia is a facial malformation characterized by mandibular hypoplasia and a small, receding chin that fails to maintain the tongue in a forward position. We previously reported a system of prenatal screening that we developed to identify fetuses with compromised central nervous system function by observing fetal behavior. In this paper we report the case of a preterm infant with micrognathia and pulmonary hypoplasia who presented abnormal fetal movements.</p> <p>Case presentation</p> <p>A 27-year-old Japanese primigravida at 33 weeks of gestation was referred to our hospital. Ultrasonographic examination revealed clinical polyhydramnios. Micrognathia was evident on midsagittal and 3 D scan. The lung area was less than the mean -2.0 standard deviations for the gestational age. The infant had mandibular hypoplasia and glossoptosis. After emergency cesarean delivery for non-reasuring fetal status, required immediate tracheostomy and cardiopulmonary resuscitation with mechanical ventilatory support. However, the infant's cardiopulmonary condition did not improve and she died 21 hours after birth.</p> <p>Conclusions</p> <p>The findings of our ultrasound exam are suggestive of brain dysfunction. The observation of fetal behavior appears to be effective for the prediction of prognosis of cases with micrognathia.</p

Evaluation of Haplotype Inference Using Definitive Haplotype Data Obtained from Complete Hydatidiform Moles, and Its Significance for the Analyses of Positively Selected Regions

The haplotype map constructed by the HapMap Project is a valuable resource in the genetic studies of disease genes, population structure, and evolution. In the Project, Caucasian and African haplotypes are fairly accurately inferred, based mainly on the rules of Mendelian inheritance using the genotypes of trios. However, the Asian haplotypes are inferred from the genotypes of unrelated individuals based on population genetics, and are less accurate. Thus, the effects of this inaccuracy on downstream analyses needs to be assessed. We determined true Japanese haplotypes by genotyping 100 complete hydatidiform moles (CHM), each carrying a genome derived from a single sperm, using Affymetrix 500 K Arrays. We then assessed how inferred haplotypes can differ from true haplotypes, by phasing pseudo-individualized true haplotypes using the programs PHASE, fastPHASE, and Beagle. We found that, at various genomic regions, especially the MHC locus, the expansion of extended haplotype homozygosity (EHH), which is a measure of positive selection, is obscured when inferred Asian haplotype data is used to detect the expansion. We then mapped the genome using a new statistic, XDiHH, which directly detects the difference between the true and inferred haplotypes, in the determination of EHH expansion. We also show that the true haplotype data presented here is useful to assess and improve the accuracy of phasing of Asian genotypes

Successful Management of Pregnancy Complicated by Klippel-Trenaunay Syndrome Using MR Angiography-Based Evaluation

Klippel-Trenaunay syndrome (KTS) is a rare congenital disease, and extensive cutaneous hemangiomas and abnormal venous vessels are characteristic. In our case, to manage her pregnancy with KTS, whole-body MRA was performed before delivery. A 29-year-old woman was referred at 28 weeks because of prominent vulvovaginal varicosities due to KTS. At 35 weeks, hypertrophy and multiple venous varicosities of her leg as well as massive vulvovaginal varicosities became prominent with a normal coagulation profile. Systematic MRAs revealed hemangiomas and varicosities in the right leg, the lower abdomen, and the pubic region, while no obvious AVM was detected around the bronchial tube and spine. We decided to deliver her baby by cesarean section at 37 weeks under general anesthesia, and a healthy baby was delivered. No blood transfusion was required. Prophylaxis against thrombosis was performed after the operation. She was discharged with her baby. Her vulvovaginal varicosities shrunk considerably one month later

Prognosis and long-term neurodevelopmental outcome in conservatively treated twin-to-twin transfusion syndrome

<p>Abstract</p> <p>Background</p> <p>Amnioreduction remains a treatment option for pregnancies with twin-to-twin transfusion syndrome (TTTS) not meeting criteria for laser surgery or those in which it is not feasible. Amnioreduction is a relatively simple treatment which does not require sophisticated technical equipment. Previous reports of conservative management have indicated that major neurodevelopmental impairment occurs in 14.3-26% of survivors. The purpose of this study was to investigate long-term neurodevelopmental outcome in conservatively treated TTTS.</p> <p>Methods</p> <p>During the nine-year study period from January 1996 to December 2004, all pregnancies with TTTS who were admitted to our center were investigated. TTTS was diagnosed by using standard prenatal ultrasound criteria, and staged according to the criteria of Quintero <it>et al</it>. We reviewed gestational age at diagnosis, gestational age at delivery, the stage of TTTS at diagnosis, and diagnosis to delivery interval. Neonatal cranial ultrasound findings were reviewed and the neurodevelopmental outcomes were evaluated.</p> <p>Results</p> <p>Twenty-one pregnancies with TTTS were included. Thirteen pregnancies (62%) were treated with serial amnioreduction. The mean gestational age at delivery was 28 weeks (22 - 34 weeks). The perinatal mortality rate was 42.9%. Twenty survivors were followed up until at least 3 years of age. The mean age at follow-up was 6.3 years (3 - 12 years). Six children (30%) had neurodevelopmental impairment. Four children (20%) had major neurodevelopmental impairment and two children (10%) had minor neurodevelopmental impairment. Children with neurodevelopmental impairment were delivered before 29 weeks of gestation.</p> <p>Conclusions</p> <p>Our study showed a high rate of perinatal mortality and a high rate of major neurodevelopmental impairment in conservatively treated TTTS. The long-term outcomes for the survivors with TTTS were good when survivors were delivered after 29 weeks of gestation.</p

Experience of Early Occult Lung Cancer With Microinvasion

A case of early lung cancer with microinvasion in the orifice of the left B1+2 and B3 is reported. A 71 year old male was presented with chief complaint of left intercostal neuralgia. The chest X-ray film showed no remarkable change except for pulmonary arterial shadow in the left upper lung field. Under bronchofiberscope, thickend bronchial mucosa and disappearance of longitudinal mucosal fold were detected in the orifice of the left B1+2 and B3. Squamous cell carcinoma was diagnosed histologically. Left upper lobectomy was performed, and microscopic characteristic of the resected specimen was microinvasive squamous cell carcinoma

Experimental Evaluation of Effects of Intra-Aortic Balloon Pumping (IABP) on Ischemic Heart

The intraaortic balloon pumping (IABP) has been widely empoyed in the management of ventricular power failure. The effects of IABP were studied in a large number of reports. However, the efficacy of IABP has not been certified with reference to the severity of myocardial ischemia. Experimentally augmentation of coronary blood flow were observed on acute ischemic heart by ligation of the anterior descending artery. It has shown from the view of increased coronary blood flow that excess of 50ml/min/kg of coronary blood flow were obtained in functional reserved myocardium with ischemia. However, the efficacy of IABP on acute ischemic heart can not be precipitated by severe damage of the myocardium. The usefulness of IABP was elucidated by functional myocardial level of at least 50mmHg of LVP, 40mmHg of LVEDP and 1000mmHg/sec of max dp/dt respectivelly and it is emphasized that immediate application of IABP for cardiogenic shock allows to improve the further myocardial depression

A Functional Evaluation of Bronchial Reconstructed Lung with Special Reference to Denervation

Bronchoplastic procedures for lung cancer were suitable operative method to reserve pulmonary function and to enlarge the resected area. However, functional evaluation is not necessarily achieved in bronchial reconstructed lung, especially with reference to denervation. In this study the influence of denervation was investigated experimentally by pulmonary perfused wedge method in which vascular tonus was directly illustrated and by measurement of oxygen saturation (Sao2) of pulmonary venous blood in which the ability of oxygen uptake was elucidated. When comparing the results of denervation with regard to operative procedures of bronchoplasty, bronchoplasty with sleeve anastomosis of pulmonary artery and autotransplantation respectively, the deteriorate effects related to bronchoplasty were not observed as compared to autotransplantation

Long-Term Effects of Polychlorinated Biphenyls and Dioxins on Pregnancy Outcomes in Women Affected by the Yusho Incident

Background: Maternal exposure to polychlorinated biphenyls (PCBs) is associated with increased proportions of spontaneous abortion and stillbirth in animal studies. In Japan in 1968, accidental human exposure to rice oil contaminated with PCBs and other dioxin-related compounds, such as polychlorinated dibenzofurans (PCDFs), led to the development of what was later referred to as Yusho oil disease. Objective: The aim of this study was to investigated the association of maternal PCB and dioxin exposure with adverse pregnancy outcomes in Yusho women. Methods: In 2004, we interviewed 214 Yusho women (512 pregnancies) about their pregnancy outcomes over the past 36 years. Pregnancy outcomes included induced abortion, spontaneous abortion, preterm delivery, and pregnancy loss. Results: In pregnancy years 1968-1977 (within the first 10 years after exposure), the proportions of induced abortion [adds ration adjusted for age at delivery (ORadj) = 5.93; 95% confidence interval (CI), 2.21-15.91; two-tailed p < 0.001) and preterm delivery (ORadj = 5.70; 95% CI, 1.17-27.79; p = 0.03) were significantly increased compared with the proportions in pregnancy years 1958-1967 (10 years before the incident). Spontaneous abortion (ORadj = 2.09; 95% CI, 0.84-5.18), and pregnancy loss (ORadj = 2.11; 95% CI, 0.92-4.87) were more frequent (OR = 2.18; 95% CI, 1.02-4.66), but these were not significant (p = 0.11 and p = 0.08, respectively) in pregnancy years 1968-1977. We found no significant increases in the proportions of these adverse pregnancy outcomes in pregnancies occurring during 1978-1987 or 1988-2003 compared with those in pregnancies before 1968. Conclusion: High levels of PCB/PCDF exposure had some adverse effects on pregnancy outcome in Yusho women