A broad clinical spectrum of PLCε1-related kidney disease and intrafamilial variability.

BACKGROUND: The phenotypic and genotypic spectrum and kidney outcome of PLCε1-related kidney disease are not well known. We attempted to study 25 genetically confirmed cases of PLCε1-related kidney disease from 11 centers to expand the clinical spectrum and to determine the relationship between phenotypic and genotypic features, kidney outcome, and the impact of treatment on outcome. METHODS: Data regarding demographics, clinical and laboratory characteristics, histopathological and genetic test results, and treatments were evaluated retrospectively. RESULTS: Of 25 patients, 36% presented with isolated proteinuria, 28% with nephrotic syndrome, and 36% with chronic kidney disease stage 5. Twenty patients underwent kidney biopsy, 13 (65%) showed focal segmental glomerulosclerosis (FSGS), and 7 (35%) showed diffuse mesangial sclerosis (DMS). Of the mutations identified, 80% had non-missense, and 20% had missense; ten were novel. No clear genotype-phenotype correlation was observed; however, significant intrafamilial variations were observed in three families. Patients with isolated proteinuria had significantly better kidney survival than patients with nephrotic syndrome at onset (p = 0.0004). Patients with FSGS had significantly better kidney survival than patients with DMS (p = 0.007). Patients who presented with nephrotic syndrome did not respond to any immunosuppressive therapy; however, 4/9 children who presented with isolated proteinuria showed a decrease in proteinuria with steroids and/or calcineurin inhibitors. CONCLUSION: PLCε1-related kidney disease may occur in a wide clinical spectrum, and genetic variations are not associated with clinical presentation or disease course. However, clinical presentation and histopathology appear to be important determinants for prognosis. Immunosuppressive medications in addition to angiotensin-converting enzyme inhibitors may be beneficial for selected patients. "A higher resolution version of the Graphical abstract is available as Supplementary information".

The Effect of Sunflower Seed and Almond Oil on Preterm Infant Skin: A Randomized Controlled Trial.

OBJECTIVE: To investigate the effect of sunflower seed oil (SSO) and almond oil (AO) on stratum corneum hydration and Neonatal Skin Condition Scores (NSCSs) of preterm infants. METHODS: This randomized controlled trial recruited 90 preterm infants whose gestational ages were between 32 and 37 weeks in the neonatal ICU. Infants were randomly assigned to three groups (SSO, AO, or control). The oils were applied to the whole body of each infant except for the head and face by a nurse researcher four times a day (4 mL/kg) for 5 days. MAIN OUTCOME MEASURES: Skin condition of the infants as evaluated with the NSCS; hydration as measured by a skin moisture meter before and after application. MAIN RESULTS: When average stratum corneum hydration was compared, infants in the SSO and AO groups had better hydration than infants in the control group. The NSCS scores in the control group were significantly higher than in the intervention groups, but there was no difference between the SSO and AO groups. CONCLUSIONS: Neither SSO nor AO has harmful effects on the skin, and their use may improve stratum corneum hydration. These oils can be used by nurses to hydrate the skin of preterm infants. Further studies are needed to evaluate the efficacy of natural oils on infant skin.