Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson`s Disease

Background Recent studies indicate an increased frequency of mutations in the gene encoding glucocerebrosidase (GBA), a deficiency of which causes Gaucher`s disease, among patients with Parkinson`s disease. We aimed to ascertain the frequency of GBA mutations in an ethnically diverse group of patients with Parkinson`s disease. Methods Sixteen centers participated in our international, collaborative study: five from the Americas, six from Europe, two from Israel, and three from Asia. Each center genotyped a standard DNA panel to permit comparison of the genotyping results across centers. Genotypes and phenotypic data from a total of 5691 patients with Parkinson`s disease (780 Ashkenazi Jews) and 4898 controls (387 Ashkenazi Jews) were analyzed, with multivariate logistic-regression models and the Mantel-Haenszel procedure used to estimate odds ratios across centers. Results All 16 centers could detect two GBA mutations, L444P and N370S. Among Ashkenazi Jewish subjects, either mutation was found in 15% of patients and 3% of controls, and among non-Ashkenazi Jewish subjects, either mutation was found in 3% of patients and less than 1% of controls. GBA was fully sequenced for 1883 non-Ashkenazi Jewish patients, and mutations were identified in 7%, showing that limited mutation screening can miss half the mutant alleles. The odds ratio for any GBA mutation in patients versus controls was 5.43 across centers. As compared with patients who did not carry a GBA mutation, those with a GBA mutation presented earlier with the disease, were more likely to have affected relatives, and were more likely to have atypical clinical manifestations. Conclusions Data collected from 16 centers demonstrate that there is a strong association between GBA mutations and Parkinson`s disease.

Outcomes of newborns admitted in the intensive care unit at a public hospital

Background: We evaluated the outcome of newborns admitted in the neonatal Intensive Care Unit (ICU) in Diadema, Brazil. Methods: We evaluated 72 newborns, data were extracted from research forms, newborns` hospital records, mothers interviews, domiciliary inquiry made with the responsible for the newborn care, and paediatric accompaniment cards. Results: 48.93% presented low birth weight, 48% were considered to have normal birth weight and 2% had a birth weight higher than 4000g. Concerning gestational age, 57.44% were younger than 37 weeks old. During hospitalisation, newborn had appointments with doctors from other specialties (inter-appointments), around 40% were cardiologists. After hospital discharge 82.98% were referred to local primary health care units, and the main specialities were cardiology and neurology. Among the newborns evaluated 85.11% were accompanied by paediatric health care units. Conclusion: The implementation of a specialised newborn health accompaniment program in Brazil after ICU discharge is important for positive outcomes regarding newborns growth and development.