Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy.

Background: Seventy-five percent of patients with pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency (PDE-ALDH7A1) suffer intellectual developmental disability despite pyridoxine treatment. Adjunct lysine reduction therapies (LRT), aimed at lowering putative neurotoxic metabolites, are associated with improved cognitive outcomes. However, possibly due to timing of treatment, not all patients have normal intellectual function.

Evaluation of bone mineral density and its associated factors in postpartum women.

Objective: Although osteoporosis commonly appears among postmenopausal women, it is rarely diagnosed during the postpartum period as pregnancy-lactation associated osteoporosis (PAO). The aim of the study reported here was to investigate low bone mineral density and its associated risk factors in postpartum women.

Materials And Methods: The sample consisted of 93 females aged 18-40 years and in the first month of the postpartum period.

Geriatric medicine and old age psychiatry joint training pre-feasibility pilot study: an innovative approach to collaborative postgraduate training.

Background: Physical and psychological health problems are prevalent in older adults and rarely exist in isolation. Treating these problems in isolation is resourceful and can be potentially harmful to patients due to delays in diagnosis and treatment and incomplete holistic care plans. Historically, trainees in geriatric medicine and old age psychiatry within the United Kingdom have completed very different training programmes.

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.

Pyridoxine dependent epilepsy (PDE) is a treatable epileptic encephalopathy characterized by a positive response to pharmacologic doses of pyridoxine. Despite seizure control, at least 75% of individuals have intellectual disability and developmental delay. Current treatment paradigms have resulted in improved cognitive outcomes emphasizing the importance of an early diagnosis.