The financial burden experienced by families during NICU hospitalization and after discharge: A single center, survey-based study.

To investigate a broad array of costs and perceived financial burden (FB) faced by families of NICU graduates both during hospitalization and after discharge. Cross-sectional survey-based study design. A survey measuring socio-demographics, direct non-medical costs, indirect costs, social support and perceived FB was developed.

Impact of psychological distress and psychophysical wellbeing on posttraumatic symptoms in parents of preterm infants after NICU discharge.

Backgorund: Parents after Neonatal Intensive Care Unit (NICU) hospitalization of preterm infant may develop psychopathological symptoms. The aim of the study was to determine how parental stress and psychophysical wellbeing affect posttraumatic symptoms (PTTS) in parents during the first year after NICU discharge. Moreover, this study aimed to explore any gender-specific difference in psychological distress among mothers and fathers.

Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C.

Background: Twenty-five patients with Niemann Pick disease type C (age range: 7 months to 44 years) were enrolled in an Italian independent multicenter trial and treated with miglustat for periods from 48 to 96 months.

Methods: Based on the age at onset of neurological manifestations patients' phenotypes were classified as: adult (n = 6), juvenile (n = 9), late infantile (n = 6), early infantile (n = 2). Two patients had an exclusively visceral phenotype.

Long-term enzyme replacement therapy for pompe disease with recombinant human alpha-glucosidase derived from chinese hamster ovary cells.

Pompe disease is a rare autosomal recessive myopathy due to the deficiency of lysosomal acid alpha-glucosidase. Clinical phenotypes range from the severe classic infantile form (hypotonia and hypertrophic cardiomyopathy), to milder late onset forms (skeletal myopathy and absence of significant heart involvement). Enzyme replacement therapy with recombinant human alpha-glucosidase derived from either rabbit milk or Chinese hamster ovary cells has been introduced and is undergoing clinical trials.

Neonatal urinary cotinine correlates with behavioral alterations in newborns prenatally exposed to tobacco smoke.

Altered behavior due to prenatal smoke exposure was examined in 25 neonates born from smoking mothers who consumed at least 5 cigarettes/d during the entire gestation. Data were compared with 25 matched neonates born from nonsmoking mothers. Neonatal behavior was evaluated using the Brazelton Neonatal Behavioral Assessment Scale (BNBAS).

Brain damage in glycogen storage disease type I.

Objective: To investigate brain morphology and function in patients with glycogen storage disease type I (GSDI).

Study Design: Nineteen patients (13 females and 6 males, aged 0.9-22.

Moderate hyperbilirubinemia induces a transient alteration of neonatal behavior.

Objective: To investigate the behavioral changes induced by moderate hyperbilirubinemia in the otherwise healthy, untreated newborn infant.

Methods: Fifty term neonates (23 boys) with untreated moderate hyperbilirubinemia (median: 14.3 mg/dL; range: 13.