First Response to Opioids Survey Tool (FROST): Pilot study of a brief screening tool to assess opioid use disorder risk.

Objective: Early work suggests the type of subjective experiences upon first opioid use may predict opioid use disorder (OUD) risk. This study developed and pilot-tested a brief survey to evaluate the "first response" to opioids.

Design: A cross-sectional survey research study.

Endogenous galactose formation in galactose-1-phosphate uridyltransferase deficiency.

Patients with classical galactosaemia (galactose-1-phosphate uridyltransferase (GALT) deficiency) manifest clinical complications despite strict dietary galactose restriction. Therefore the significance of endogenous galactose production has been assessed. Previous in vivo studies primarily focused on patients homozygous for the most common genetic variant Q188R but little is known about other genetic variants.

Longitudinal assessment of intellectual achievement in patients with classical galactosemia.

Objective: To conduct a longitudinal assessment of long-term cognitive outcome in patients with classical galactosemia.

Methods: Inclusion criteria were (1) previous assessment of IQ dating back >10 years with tests being comparable with the recent German tests HAWIK-III and HAWIE-R, (2) absence of illnesses other than galactosemia, (3) absence of foreign language problems, (4) enzymatic-metabolic proof of classical galactosemia, (5) compliance with dietary therapy, and (6) written informed consent. Twenty-three patients who fulfilled these criteria were found.

Urinary excretion of pentose phosphate pathway-associated polyols in early postnatal life.

Background: Two new inborn errors in the pentose phosphate pathway have been described: ribose-5-isomerase deficiency and transaldolase deficiency. These defects are characterized by accumulation of specific polyols in body fluids. Little is known about human polyol metabolism, but there are indications for a physiological role primarily during early development.

Biochemical monitoring of pregnancy and breast feeding in five patients with classical galactosaemia--and review of the literature.

Pregnancy, delivery, and postpartal metabolic control was monitored biochemically in five patients (22-38 years of age) with clinically, enzymatically, and genotypically established classical galactosaemia and good dietary compliance. Three of the patients performed breast feeding of their newborns. Monitoring parameters were galactose-1-phosphate and galactitol concentrations in erythrocytes and urinary excretion of galactose, galactitol, galactonate, and lactose.