Colemanmathis4912

Long-term durability should be confirmed by larger ongoing researches. Multicentric carpotarsal osteolysis syndrome (MCTO) is a rare form of skeletal dysplasia characterized by progressive bone resorption, in the carpal and tarsal bones. Patients may develop chronic kidney disease, which eventually advances to end-stage renal disease (ESRD). Both sporadic and familial cases of autosomal-dominant inheritance are reported in literature. Here, we report a case of a 10.5-year-old boy who presented with CKD stage V, and who suffered from bone deformities and difficulty in walking at a younger age. He was diagnosed with MCTO and subjected to genetic analysis. We identified a novel mutation (NM_005461.5c.173C > G) in the exon 1 of MAFB using next-generation sequencing. However, the mutation was not detected in his asymptomatic parents or siblings. This novel heterozygous mutation has not been reported previously. Our results show that the new mutation broadens the spectrum of disease phenotypes. This mutation may be helpful to confirm the potential cases of MCTO, which although can be identified through radiographic findings, stand a high chance of being misdiagnosed as rheumatological disease or as a metabolic bone disease secondary to CKD. This review summarizes knowledge of alternative oxidase, a mitochondrial electron transport chain component that lowers the ATP yield of plant respiration. Analysis of mutant and transgenic plants has established that alternative oxidase activity supports leaf photosynthesis. The interaction of alternative oxidase respiration with chloroplast metabolism is important under conditions that challenge energy and/or carbon balance in the photosynthetic cell. Under such conditions, alternative oxidase provides an extra-chloroplastic means to optimize the status of chloroplast energy pools (ATP, NADPH) and to manage cellular carbohydrate pools in response to changing rates of carbon fixation and carbon demand for growth and maintenance. Transcriptional and post-translational mechanisms ensure that alternative oxidase can respond effectively when carbon and energy balance are being challenged. This function appears particularly significant under abiotic stress conditions such as water deficit, high salinity, or temperature extremes. Under such conditions, alternative oxidase respiration positively affects growth and stress tolerance, despite it lowering the energy yield and carbon use efficiency of respiration. In part, this beneficial effect relates to the ability of alternative oxidase respiration to prevent excessive reactive oxygen species generation in both mitochondria and chloroplasts. Recent evidence suggests that alternative oxidase respiration is an interesting target for crop improvement. OBJECTIVES The objectives of this study were to investigate the effect of genetic and social factors on depressive symptoms and depression over time and to test whether social factors moderate the relationship between depressive symptoms and its underlying genetics in later life. METHODS The study included 2,279 participants with a mean follow-up of 15 years from the Longitudinal Aging Study Amsterdam with genotyping data. The personal genetic loading for depression was estimated for each participant by calculating a polygenic risk scores (PRS-D), based on 23,032 single nucleotide polymorphisms associated with major depression in a large genome-wide association study. Partner status, network size, received and given emotional support were assessed via questionnaires and depressive symptoms were assessed using the CES-D Scale. A CES-D Scale of 16 and higher was considered as clinically relevant depression. RESULTS Higher PRS-D was associated with more depressive symptoms whereas having a partner and having a larger network size were independently associated with less depressive symptoms. After extra adjustment for education, cognitive function and functional limitations, giving more emotional support was also associated with less depressive symptoms. No evidence for gene-environment interaction between PRS-D and social factors was found. Similar results were found for clinically relevant depression. CONCLUSION Genetic and social factors are independently associated with depressive symptoms over time in older adults. Strategies that boost social functioning should be encouraged in the general population of older adults regardless of the genetic liability for depression. BACKGROUND The reason for increased serum creatinine levels in preterm infants often remains unclear. We aimed to determine whether postnatal serum creatinine in preterm infants correlates with intake of amniotic fluid, represented by the amount of amniotic fluid after preterm premature rupture of membranes (PPROM). METHODS 74 preterm infants with PPROM > 48 h duration were retrospectively studied. Postnatal creatinine concentration was determined at day 2-5, 10-17 and 26-33 of life and compared between infants with normal intrauterine amniotic volumes, oligohydramnios and anhydramnios. RESULTS Mean gestational age of included patients was 29.7 weeks (range 24.0-36.1 weeks) and mean birth weight was 1452 g (range 560-2940 g). Serum creatinine concentration was similar at day 2-5 and day 10-17 of life between the three groups. We observed a significant decrease in creatinine concentration from day 2-5 to day 26-33 in infants with normal amniotic fluid volume and oligohydramnios (p = 0.0001 and p = 0.0071, respectively), but not in anhydramnios. On day 26-33 of life, infants with anhydramnios showed significantly higher creatinine levels compared to infants with normal amniotic fluid volume and oligohydramnios (p = 0.0211). CONCLUSION Postnatal serum creatinine of preterm infants at day 26-33 of life is elevated in infants with PPROM-induced anhydramnios, but not in oligohydramnios. V.BACKGROUND Patent ductus arteriosus (PDA) is frequently encountered in premature infants. see more Optimal management of PDA remains undefined. We aim to assess the national trend for PDA ligation over 18 years and evaluate mortality and associated morbidities. METHODS We used data from the National Inpatient Sample (NIS) and KID of the Healthcare Cost and Utilization Project (HCUP) from 1998 to 2015. All infants with gestational age 24-32 weeks and birth weight less then 1500 g were included. Patients with PDA were classified into two groups those who did and did not receive surgical ligation. Associated mortality and morbidities were compared. RESULTS A total of 429,900 neonatal admissions were identified. Of them, 149,473 (34.8%) infants had PDA. PDA-ligated infants were 27,364 (6.4%). PDA ligation was more likely in those with smaller gestational age and with birth weight less then 1000 g. A steady decline in PDA ligation was noticed since 2004. The mortality rate in PDA-ligated infants was less than in PDA-non-ligated infants (7.