At the beginning of the Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) pandemic, patients with inborn errors of immunity (IEI) appeared to be particularly vulnerable to a severe course of the disease. It quickly turned out that only some IEI groups are associated with a high risk of severe infection. However, data on the course of Coronavirus Disease 2019 (COVID-19) in patients with IEI are still insufficient, especially in children; hence, further analyses are required. The retrospective study included 155 unvaccinated people with IEI: 105 children and 50 adults (67.7% and 32.3%, respectively). Male patients dominated in the study group (94 people, 60.6%). At least two comorbidities were found in 50 patients (32.3%), significantly more often in adults (56% vs. 21%). Adult patients presented significantly more COVID-19 symptoms. Asymptomatic and mildly symptomatic course of COVID-19 was demonstrated in 74.8% of the entire group, significantly more often in children (88.6% vs. 46%). Moderate and severe courses dominated in adults (54% vs. 11.4%). Systemic antibiotic therapy was used the most frequently, especially in adults (60% vs. 14.3%). COVID-19-specific therapy was used almost exclusively in adults. In the whole group, complications occurred in 14.2% of patients, significantly more often in adults (30% vs. 6.7%). In the pediatric group, there were two cases (1.9%) of multisystem inflammatory syndrome in children. Deaths were reported only in the adult population and accounted for 3.9% of the entire study group. The death rate for all adults was 12%, 15.4% for adults diagnosed with common variable immunodeficiency, 12.5% for those with X-linked agammaglobulinemia, and 21.4% for patients with comorbidity. The results of our study imply that vaccinations against COVID-19 should be recommended both for children and adults with IEI. Postexposure prophylaxis and early antiviral and anti-SARS-CoV-2 antibody-based therapies should be considered in adults with IEI, especially in those with severe humoral immune deficiencies and comorbidity.
Background: Data regarding the course of SARS-CoV-2 infection in children with primary immunodeficiency (PID) is insufficient. The purpose of the study was to evaluate the morbidity and clinical course of COVID-19 and the ability to produce anti-SARS-CoV-2 IgG antibodies in children with PID. Methods: In this retrospective study, medical records of 99 patients aged 0–18 were evaluated. The patients were divided into three groups: PID group (68.69%), control group (19.19%) and patients with ongoing or previous paediatric inflammatory multisystem syndrome (12.12%). Data such as morbidity, clinical outcome, and IgG anti-SARS-CoV-2 antibody titres were assessed. Results: A confirmed diagnosis of SARS-CoV-2 infection has been established in 26.47% of patients with PID. Among patients with PID infected with SARS-CoV-2, only three cases were hospitalised. Mortality in the PID group was 0%. Throughout an observation period of 1 year, 47.06% of patients with PID were tested positive for the anti-SARS-CoV-2 antibody. Conclusions: In the study group, in most cases the disease had a mild and self-limiting course. Remarkably, even though IgG deficiency was the most prevalent form of PID in the study group, the patients were able to respond satisfactorily to the infection in terms of anti-SARS-CoV-2 IgG.
Background Variants in ATP1A3 cause well‐known phenotypes—alternating hemiplegia of childhood (AHC), rapid‐onset dystonia‐parkinsonism (RDP), cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss (CAPOS), and severe early infantile epileptic encephalopathy. Recently, there has been growing evidence for genotype–phenotype correlations in the ATP1A3 variants, and a separate phenotype associated with variants in residue 756—two acronyms are proposed for the moment—FIPWE (fever‐induced paroxysmal weakness and encephalopathy) and RECA (relapsing encephalopathy with cerebellar ataxia). Materials and Methods Herein, we are describing two new pediatric cases with a p.Arg756His change in the ATP1A3 gene. Both patients have had more than one episode of a neurological decompensation triggered by fever with severe hypotonia and followed by ataxia. Thirty‐three cases from literature were analyzed to define and strengthen the genotype‐phenotype correlation of variants located in residue 756 (p.Arg756His, p.Arg756Cys, p.Arg756Leu). Conclusions Patients with a ATP1A3 variant in residue 756 are characterized by recurrent paroxysmal episodes of neurological decompensations triggered by fever, with severe hypotonia, ataxia, dysarthria, symptoms from the orofacial area (dysphagia, drooling) as well as with altered consciousness. Recovery is slow and usually not full with the persistent symptoms of cerebellar ataxia, dysarthria, dystonic and choreiform movements.
Cel pracyNadal istnieje zapotrzebowanie na nowe, efektywne biologiczne interwencje terapeutyczne w epizodach depresyjnych i zaburzeniu depresyjnym nawracającym. Krioterapia ogólnoustrojowa (WBC), będąca formą stymulacji ogólnoustrojowej temperaturami kriogenicznymi, jest coraz częściej stosowaną metodą leczniczą w schorzeniach neurologicznych oraz w reumatologii. Badanie miało na celu określenie skuteczności krioterapii ogólnoustrojowej jako augmentacji leczenia epizodu depresyjnego.MetodaDo badania obserwacyjnego zrekrutowano 30 dorosłych pacjentów leczonych ambulatoryjnie z powodu epizodu depresyjnego. 21 osób (17 kobiet, 81%) ze średnią wieku 46,1 (±16,7) lat ukończyło badanie. Do określenia nasilenia objawów depresyjnych u badanych użyto Skali Depresji Hamiltona oraz Inwentarza Depresji Becka. Jakość życia oceniano WHOQoL-Bref a poziom anhedonii skalą SHAPS. W okresie 2 tygodni przeprowadzono 10 dwuminutowych sesji ekspozycji na skrajnie niskie temperatury (od -110 do -135 stopni Celsjusza).WynikiPo cyklu kriostymulacji ogólnoustrojowej stwierdzono znaczącą poprawę w postaci redukcji ogólnej punktacji w skalach oceniających objawy depresyjne HDRS między T1 (16,94±4,3) i T4 (4,50±4,2) (p<0.00001) oraz BDI (T1: 13,48±4,6; T4: 6,14±6.7, p<0,03), nasilenie anhedonii w skali SHAPS (p=0,011), oraz wyższe wyniki w skali jakości życia w domenach: poczucie zdrowia fizycznego (p=0,024), poczucie zdrowia psychicznego (p=0,016) oraz w domenie środowiskowej (p=0,003). Zauważono istotny wzrost samodzielnie ocenianego samopoczucia przy użyciu skali VAS przed i po przebytych zabiegach (p<0,00001). Nie stwierdzono wpływu krioterapii ogólnoustrojowej na zmianę poziomu cytokin, NO, hsCRP, OB oraz TAS we krwi uczestników przed i po zakończeniu cyklu krioterapii (p>0,05).WnioskiKrioterapia ogólnoustrojowa okazała się efektywną, bezpieczną oraz dobrze tolerowaną dodatkową interwencją terapeutyczną wśród pacjentów z epizodem depresyjnym. Dalsze randomizowane badania z grupą kontrolną powinny zostać przeprowadzone.
Background: Primary immunodeficiences (PIDs) are a group of chronic, serious disorders in which the immune response is insufficient. In consequence, it leads to an increased susceptibility to infections. Up to date, there are about 350 different disorders classified in that group. There are also patients suffering from recurrent respiratory tract infections (RRTI), however that group doesn't present any abnormalities in terms of conducted immunological tests. Many factors, including medical, can have an impact on physical development of a child. Data such as birth weight and length, also weight, height, BMI during admission to the hospital were collected from 195 patients' medical histories from their hospitalization at Clinical Immunology and Paediatrics Ward of J. Gromkowski Hospital in Wrocław. Investigated groups included patients with PIDs, RRTI and a control group of healthy children. Our purpose was to evaluate the physical growth of children with PID and children with RRTI by assessment of their height and weight. All of parameters were evaluated using centile charts, suitable best for the Polish population. Results: The lowest mean birth weight and height was found among the PIDs patients group. Children with PIDs during hospitalization had statistically relevant lower mean weight than the control group and almost 18% of them had their height situated below 3rd percentile. The statistically relevant differences have been found between them and RRTI group in terms of weight, height and nutritional status. The statistically significant difference was detected between the nutritional status of PID and control group. Conclusions: There is a higher percentage of PID patients with physical growth abnormalities in comparison to healthy children. Our findings indicate a need for further investigation of immune system irregularities and their influence on physical growth of children.
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