Responsiveness of sphingosine phosphate lyase insufficiency syndrome to vitamin B6 cofactor supplementation.

Sphingosine-1-phosphate (S1P) lyase is a vitamin B6-dependent enzyme that degrades sphingosine-1-phosphate in the final step of sphingolipid metabolism. In 2017, a new inherited disorder was described caused by mutations in SGPL1, which encodes sphingosine phosphate lyase (SPL). This condition is referred to as SPL insufficiency syndrome (SPLIS) or alternatively as nephrotic syndrome type 14 (NPHS14).

Psychosis and catatonia in fragile X: Case report and literature review.

Fragile X mental retardation 1 (FMR1) premutation associated phenotypes have been explored extensively since the molecular mechanism emerged involving elevated FMR1 messenger ribonucleic acid (mRNA) levels. Lowered fragile X mental retardation protein (FMRP) can also occur which may have an additive effect to the high levels of mRNA leading to neurodevelopmental problems and psychopathology. This paper was aimed to review psychosis and catatonia in premutation carriers, express the role of elevated FMR1 mRNA and lowered FMRP in the phenotype of carriers and present a case of psychosis and catatonia in a carrier.

Fluid balance, complications, and brain tissue oxygen tension monitoring following severe traumatic brain injury.

Background: Refractory intracranial hypertension (RIH) frequently complicates severe traumatic brain injury (TBI) and is associated with worse outcomes. Aggressive fluid resuscitation contributes to the development of peripheral and pulmonary edema, but an effect on cerebral edema is not well established. Some clinicians, including advocates of the "Lund Concept", practice fluid restriction as a means of limiting cerebral edema and reducing intracranial pressure (ICP).

Stability of levofloxacin in an extemporaneously compounded oral liquid.

The stability of levofloxacin in an extemporaneously compounded oral liquid was studied. A suspension of levofloxacin 50 mg/mL was prepared from commercially available 500-mg levofloxacin tablets and equal amounts of Ora-Plus and Strawberry Syrup, NF, to make a final volume of 60 mL. Six identical volumes of the suspension were prepared in amber plastic prescription bottles.