Search

Pyridox(am)ine-5-phosphate oxidase deficiency is an autosomal recessive disorder of pyridoxine metabolism. Intractable neonatal epileptic encephalopathy is the classical presentation. Pyridoxal-5-phosphate or pyridoxine supplementation improves symptoms. We report a patient with myoclonic and tonic seizures at the age of 1 hour. Pyridoxal-5-phosphate was started on the first day of life and seizures stopped at the age of 3 days, but encephalopathy persisted for 4 weeks. She had normal neurodevelopmental outcome at the age of 12 months on pyridoxal-5-phosphate monotherapy. She had novel homozygous pathogenic frameshift mutation (c.448_451del;p.Pro150Argfs*27) in the PNPO gene. Long-lasting encephalopathy despite well-controlled clinical seizures does neither confirm nor exclude pyridox(am)ine-5-phosphate oxidase deficiency. Normal neurodevelopmental outcome of our patient emphasizes the importance of pyridoxal-5-phosphate treatment. Pyridox(am)ine-5-phosphate oxidase deficiency should be included in the differential diagnosis of Ohtahara syndrome and neonatal myoclonic encephalopathy as a treatable underlying cause. In addition, we reviewed the literature for pyridox(am)ine-5-phosphate oxidase deficiency and summarized herein all confirmed cases. [ABSTRACT FROM AUTHOR]

Background Rhipicephalus (Boophilus) microplus is a highly-invasive tick that transmits the cattle parasites (Babesia bovis and B. bigemina) that cause cattle fever. R. microplus and Babesia are endemic in Mexico and ticks persist in the United States inside a narrow tick eradication quarantine area (TEQA) along the Rio Grande. This containment area is threatened by unregulated movements of illegal cattle and wildlife like white-tailed deer (WTD; Odocoileus virginianus). Methods Using 11 microsatellite loci we genotyped 1,247 R. microplus from 63 Texas collections, including outbreak infestations from outside the TEQA. We used population genetic analyses to test hypotheses about ecological persistence, tick movement, and impacts of the eradication program in southern Texas. We tested acaricide resistance with larval packet tests (LPTs) on 47 collections. Results LPTs revealed acaricide resistance in 15/47 collections (32%); 11 were outside the TEQA and three were resistant to multiple acaricides. Some collections highly resistant to permethrin were found on cattle and WTD. Analysis of genetic differentiation over time at seven properties revealed local gene pools with very low levels of differentiation (FST 0.00- 0.05), indicating persistence over timespans of up to 29 months. However, in one neighborhood differentiation varied greatly over a 12-month period (FST 0.03-0.13), suggesting recurring immigration from distinct sources as another persistence mechanism. Ticks collected from cattle and WTD at the same location are not differentiated (FST = 0), implicating ticks from WTD as a source of ticks on cattle (and vice versa) and emphasizing the importance of WTD to tick control strategies. We identified four major genetic groups (K = 4) using Bayesian population assignment, suggesting multiple introductions to Texas. Conclusions Two dispersal mechanisms give rise to new tick infestations: 1) frequent short-distance dispersal from the TEQA; and 2) rare long-distance, human-mediated dispersal from populations outside our study area, probably Mexico. The threat of cattle fever tick transport into Texas is increased by acaricide resistance and the ability of R. microplus to utilize WTD as an alternate host. Population genetic analyses may provide a powerful tool for tracking invasions in other parts of the world where these ticks are established. [ABSTRACT FROM AUTHOR]

Objective: A low mean birth weight is a constant finding in pregnancies of women with homozygous sickle cell disease. The factors responsible are largely unknown and have now been investigated in an 11-year retrospective analysis., Methods: Records for 126 pregnancies of mothers with homozygous sickle cell disease and 126 pregnancies of control women with an AA phenotype, matched according to age and date of delivery, were examined. Events during pregnancy and outcomes of pregnancy were recorded., Results: Pregnancy outcomes for mothers with homozygous sickle cell disease confirmed the lower birth weight, gestational age, and placental weight. A low birth weight in infants of mothers with homozygous sickle cell disease was strongly related to gestational age and placental weight and weakly related to reticulocyte counts and a history of preeclampsia in univariate analyses, but only gestational age and placental weight remained significant in multivariate analyses. No relationships were seen with maternal age, parity, anthropometric features, other hematologic features (hemoglobin levels, fetal hemoglobin levels, mean cell volume, and alpha-thalassemia), pregnancy-induced hypertension, or prepartum hospital admissions (expressed as number or total days). Compared with Jamaican standards, birth weight was affected more than head circumference or length in infants of mothers with homozygous sickle cell disease, indicating asymmetric growth retardation, which occurred for 27% of boys and 38% of girls (compared with 4% and 9%, respectively, among infants of control mothers)., Conclusions: A chronic condition such as homozygous sickle cell disease might have been expected to cause symmetric growth retardation throughout pregnancy. The finding of asymmetric retardation might indicate adverse factors emerging late in pregnancy and might have relevance for the poor pregnancy outcomes in such mothers.