Correlates to psychological distress in frail older community-dwellers undergoing lockdown during the COVID-19 pandemic.

BACKGROUND: This study identifies correlates of the lockdown's psychological distress in frail older community-dwellers (Catalonia, Spain). METHODS: Participants from a community frailty intervention program, with a comprehensive geriatric assessment within the 12-months pre-lockdown and COVID-19 free during the first pandemic wave (March-May 2020), underwent a phone assessment past the lockdown to assess COVID-19-related emotional distress (DME) as well as other sociodemograhic, clinical and psychosocial factors. RESULTS: Of the 94 frail older adults (age = 82,34 ± 6,12 years; 68,1% women; 38,3% living alone), 84,9% were at risk of experiencing moderate-to-high psychological distress, according to the backward stepwise logistic regression model obtained (χ2 = 47,007, p < 0,001, Nagelkerke R2 = 0,528), based on the following factors: absence of depressive symptoms before lockdown (OR = 0,12, p = 0,014, 95%CI[0,023-0,647]), not carrying out leisure activities during lockdown (OR = 0,257, p = 0,023, 95%CI[0,079-0,832]) and currently experiencing high malaise due to COVID-19 situation (OR = 1,504, p < 0,001, 95%CI[1,241-1,822]). DISCUSSION: These findings suggest that it is necessary to favour a prior overall health status and to empower frail older community-dwellers in the use of a broad repertoire of coping strategies in the face of adversity to foster mental health and keep at bay the potential emotional impact of the situation generated by the COVID pandemic.

The amino acid transporter asc-1 is not involved in cystinuria.

BACKGROUND: The human amino acid transporter asc-1 (SLC7A10) exhibits substrate selectivity for small neutral amino acids, including cysteine, is expressed in kidney, is located close to the cystinuria B gene and presents sequence variants (e.g., E112D) in some cystinuria patients. We have cloned human asc-1, assessed its transport characteristics, localized its expression in kidney, searched for mutations in cystinuria patients, and tested the transport function of variant E112D. METHODS: We used an EST-based homology cloning strategy. Transport characteristics of asc-1 were assessed by coexpression with 4F2hc in Xenopus oocytes and HeLa cells. Localization of asc-1 mRNA in kidney was assessed by in situ hybridization. Exons and intron-exon boundaries were polymerase chain reaction (PCR)-amplified from blood cell DNA and mutational screening was performed by single-stranded conformational polymorphism (SSCP). RESULTS: Asc-1 reaches the plasma membrane in HeLa cells, unlike in oocytes, most probably by interaction with endogenous 4F2hc and presents similar transport characteristics to those in oocytes coexpressing asc-1/4F2hc. Asc-1 mediates a substantial efflux of alanine in a facilitated diffusion mode of transport. Expression of asc-1 mRNA localized to Henle's loop, distal tubules, and collecting ducts. Finally, SLC7A10 polymorphisms were identified in cystinuria probands and the SLC7A10 sequence variant E112D showed full transport activity. CONCLUSION: The lack of expression of asc-1 in the proximal tubule indicates that it plays no role in the bulk of renal reabsorption of amino acids. No mutations causing cystinuria have been found in SLC7A10. The facilitated diffusion mode of transport and the expression in distal nephron suggest a role for asc-1 in osmotic adaptation.

Comparison between SLC3A1 and SLC7A9 cystinuria patients and carriers: a need for a new classification.

Recent developments in the genetics and physiology of cystinuria do not support the traditional classification, which is based on the excretion of cystine and dibasic amino acids in obligate heterozygotes. Mutations of only two genes (SLC3A1 and SLC7A9), identified by the International Cystinuria Consortium (ICC), have been found to be responsible for all three types of the disease. The ICC set up a multinational database and collected genetic and clinical data from 224 patients affected by cystinuria, 125 with full genotype definition. Amino acid urinary excretion patterns of 189 heterozygotes with genetic definition and of 83 healthy controls were also included. All SLC3A1 carriers and 14% of SLC7A9 carriers showed a normal amino acid urinary pattern (i.e., type I phenotype). The rest of the SLC7A9 carriers showed phenotype non-I (type III, 80.5%; type II, 5.5%). This makes the traditional classification imprecise. A new classification is needed: type A, due to two mutations of SLC3A1 (rBAT) on chromosome 2 (45.2% in our database); type B, due to two mutations of SLC7A9 on chromosome 19 (53.2% in this series); and a possible third type, AB (1.6%), with one mutation on each of the above-mentioned genes. Clinical data show that cystinuria is more severe in males than in females. The two types of cystinuria (A and B) had a similar outcome in this retrospective study, but the effect of the treatment could not be analyzed. Stone events do not correlate with amino acid urinary excretion. Renal function was clearly impaired in 17% of the patients.