Late-onset argininosuccinic aciduria in a 72-year-old man presenting with fatal hyperammonemia.

Argininosuccinate lyase deficiency (ASLD, MIM 207900) is an inherited urea cycle disorder. There are mainly two clinical forms, an acute neonatal form which manifests as life-threatening hyperammonemia, and a late-onset form characterised by polymorphic neuro-cognitive or psychiatric presentation with transient hyperammonemia episodes. Here, we report a late-onset case of ASLD in a 72-year-old man carrying a homozygous pathogenic variant in the exon 16 of the gene, presenting for the first time with fatal hyperammonemic coma.

Noninvasive continuous positive airway pressure in elderly cardiogenic pulmonary edema patients.

Objective: To compare the physiological effects and the clinical efficacy of continuous positive airway pressure (CPAP) vs standard medical treatment in elderly patients (> or =75 years) with acute hypoxemic respiratory failure related to cardiogenic pulmonary edema.

Design: A prospective, randomized, concealed, and unblinded study of 89 consecutive patients who were admitted to the emergency departments of one general, and three teaching, hospitals.

Intervention: Patients were randomly assigned to receive standard medical treatment alone ( n=46) or standard medical treatment plus CPAP ( n=43).