Hydrocephalus internus (HCI) of all four ventricles in association with early neurological abnormalities is described as the presenting symptom in two patients with 5,10-methylenetetrahydrofolate reductase (MTHFR) deficiency. Decreased activity of MTHFR leads to reduction of 5-methyltetrahydrofolate, the main methyl donor for methionine synthesis necessary for synthesis of S-adenosyl-methionine (SAM). Demyelination in MTHFR deficiency has been attributed to low SAM levels in the brain. The biochemical hallmarks of the disorder are hyperhomocystinemia, homocystinuria and low levels of plasma methionine. Hydrocephalus internus requiring neurosurgical intervention has to our knowledge not been reported as a presenting feature of homocystinuria due to deficiency of MTHFR so far. The surprising finding of HCI of all four ventricles in MTHFR deficiency must be kept in mind when evaluating patients with hydrocephalus of unknown origin.
Clinical and biological assessment of the COVID-19 vaccine efficacy in the frail population is of crucial importance. The study focuses on measuring the levels of anti-SARS-CoV-2 IgG antibodies before and after BNT162b2 mRNA COVID-19 vaccination among long-term care facility (LTCF) elderly residents. We conducted a prospective, single-center, observational study among LTCF residents. The study protocol was based on three blood sample acquisitions: first taken at baseline—5 days before the first dose of the vaccine, second—20 days after the first dose, and third—12 days after the second shot of the vaccine. The comparison was made for two cohorts: patients with and without prior COVID-19 infection. The data was collected from January to March 2021. A total number of 78 LTCF residents (55 women and 23 men) aged 62–104, 85.72 ± 7.59 years (mean ± SD), were enrolled in the study. All study participants were investigated for the presence of SARS-CoV-2 anti-spike (S) protein IgG, using a chemiluminescent immunoassay. Frailty was assessed with the Clinical Frailty Scale. Among elderly COVID-19 survivors in LTCF, a single dose of vaccine significantly increased anti-SARS-CoV-2 IgG antibody levels. IgG concentration after a single and double dose was comparable, which may suggest that elderly COVID-19 survivors do not require a second dose of vaccine. For residents without a previous history of COVID-19, two doses are needed to achieve an effective serological response. The level of anti-SARS-CoV-2 IgG antibodies after vaccination with BNT162b2 mRNA COVID-19 did not correlate with the frailty and age of the studied individuals.
Deficiency in dopaminergic system function may be one of the hypothetical reasons of the frailty syndrome but its role still remains unclear. The aim of our study was to assess the frailty phenotype prevalence in geriatric inpatients with mild parkinsonian signs (MPS) and to investigate levodopa test in the frail patients with MPS. We examined 118 participants: 90 with MPS and 28 in control group (without MPS). The frailty syndrome presence was evaluated by the Fried criteria. Deficiency in dopaminergic system function was assessed by one of the modifications of an acute levodopa challenge test (LCT): in MPS group every patient was examined by performing Up and Go Test and also Step Test before and 3 h after taking 125 mg of Madopar (levodopa + benserazide). Sixty-nine study subjects (58%) met criteria for frailty. Fifty-five participants in MPS group (61.1% of MPS group) and fourteen (50%) in control group. All of the patients that scored positive in walk speed criterion of frailty were frail. When all MPS patients were considered, the number of components scored positive for frailty was directly related to the walk speed (r = -0.70, p < 0.0001). In MPS group LCT scores were significantly higher for frailty patients compared to non-frailty (p = 0.0027). When all MPS patients were considered, the number of components scored positive for frailty was directly related LCT score (r = 0.37, p = 0.0004). There was a relationship between LCT and walk speed (r = -0.31, p = 0.0032). Our observations provide new information about the relationship between frailty and MPS, suggest the need for increased awareness of frailty in MPS patients and conversely. Our study provides data for a discussion on pathophysiological background of the frailty syndrome (FS), emphasizing the theories of the important impact of dopaminergic system deficit and encourages further research on the role of LCT in measuring it.
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