Aim: Sarcopenia and malnutrition are highly prevalent in older adults undergoing hemodialysis (HD) and are associated with negative outcomes. This study aimed to evaluate the role of sarcopenia and malnutrition combined on the nutritional markers, quality of life, and survival in a cohort of older adults on chronic HD.Methods: This was an observational, longitudinal, and multicenter study including 170 patients on HD aged >60 years. Nutritional status was assessed by 7-point-subjective global assessment (7p-SGA), body composition (anthropometry and bioelectrical impedance), and appendicular skeletal muscle mass (Baumgartner's prediction equation). Quality of life was assessed by KDQoL-SF. The cutoffs for low muscle mass and low muscle strength established by the 2019 European Working group on sarcopenia for Older People (EWGSOP) were used for the diagnosis of sarcopenia. Individuals with a 7p-SGA score ≤5 were considered malnourished, individuals with low strength or low muscle mass were pre-sarcopenic, and those with low muscle mass and low muscle strength combined as sarcopenic. The sample was divided into four groups: sarcopenia and malnutrition; sarcopenia and no-malnutrition; no-sarcopenia with malnutrition; and no-sarcopenia and no-malnutrition. Follow-up for survival lasted 23.5 (12.2; 34.4) months.Results: Pre-sarcopenia, sarcopenia, and malnutrition were present in 35.3, 14.1, and 58.8% of the patients, respectively. The frequency of malnutrition in the group of patients with sarcopenia was not significantly higher than in the patients without sarcopenia (66.7 vs. 51.2%; p = 0.12). When comparing groups according to the occurrence of sarcopenia and malnutrition, the sarcopenia and malnutrition group were older and presented significantly lower BMI, calf circumference, body fat, phase angle, body cell mass, and mid-arm muscle circumference. In the survival analysis, the group with sarcopenia and malnutrition showed a higher hazard ratio 2.99 (95% CI: 1.23: 7.25) for mortality when compared to a group with no-sarcopenia and no-malnutrition.Conclusion: Older adults on HD with sarcopenia and malnutrition combined showed worse nutritional parameters, quality of life, and higher mortality risk. In addition, malnutrition can be present even in patients without sarcopenia. These findings highlight the importance of complete nutritional assessment in patients on dialysis.

No abstract

In 2016 and 2018, Chung, Jansen and others described a new syndrome caused by haploinsufficiency of PHIP (pleckstrin homology domain interacting protein, OMIM *612,870) and mainly characterized by developmental delay (DD), learning difficulties/intellectual disability (ID), behavioral abnormalities, facial dysmorphism and obesity (CHUJANS, OMIM #617991). So far, PHIP alterations appear to be a rare cause of DD/ID. “Omics” technologies such as exome sequencing or array analyses have led to the identification of distinct types of alterations of PHIP, including, truncating variants, missense substitutions, splice variants and large deletions encompassing portions of the gene or the entire gene as well as adjacent genomic regions. We collected clinical and genetic data of 23 individuals with PHIP-associated Chung-Jansen syndrome (CHUJANS) from all over Europe. Follow-up investigations (e.g. Sanger sequencing, qPCR or Fluorescence-in-situ-Hybridization) and segregation analysis showed either de novo occurrence or inheritance from an also (mildly) affected parent. In accordance with previously described patients, almost all individuals reported here show developmental delay (22/23), learning disability or ID (22/23), behavioral abnormalities (20/23), weight problems (13/23) and characteristic craniofacial features (i.e. large ears/earlobes, prominent eyebrows, anteverted nares and long philtrum (23/23)). To further investigate the facial gestalt of individuals with CHUJANS, we performed facial analysis using the GestaltMatcher approach. By this, we could establish that PHIP patients are indistinguishable based on the type of PHIP alteration (e.g. missense, loss-of-function, splice site) but show a significant difference to the average face of healthy individuals as well as to individuals with Prader-Willi syndrome (PWS, OMIM #176270) or with a CUL4B-alteration (Intellectual developmental disorder, X-linked, syndromic, Cabezas type, OMIM #300354). Our findings expand the mutational and clinical spectrum of CHUJANS. We discuss the molecular and clinical features in comparison to the published individuals. The fact that some variants were inherited from a mildly affected parent further illustrates the variability of the associated phenotype and outlines the importance of a thorough clinical evaluation combined with genetic analyses for accurate diagnosis and counselling.

HighlightsVesicoureteral reflux presenting for the first time in adults is rare.The diagnosis should be suspicious in adult patients with recurrent Pyelonephritis without recognizable cause.Endoscopic treatment with bulking agents is a minimally invasive technique with good results for adult vesicoureteral reflux.