Progressive bronchiectasis and CMC in a patient with STAT1 GOF — a rare case of primary immunodeficiency

Bronchiestasis is a common complication developing in patients with primary immunodeficiency disorders. AD GOF STAT1 defi-ciency is characterized by CMC, repeated infections, and autoimmunity. It is the most frequently diagnosed entity in a group of PIDs with CMC. Here, we present the first Polish case of a female patient with early-onset bronchiestasis accompanied by CMC and a severe course of infections who was genetically diagnosed with AD GOF1 STAT1 mutation at the age of 15

Health status of older cancer survivors-results of the PolSenior study

Purpose The purpose of this study is to characterize health status of older cancer survivors using data from the population-based PolSenior study. Methods We compared cancer survivors and non-cancer subjects according to comorbidities, functional status, mental health, and sociodemographic factors. Results There were 286 (5.8%) cancer survivors in a population of 4943 adults aged 65 years and older. The mean age of cancer survivors was 79.4 ± 8.2 years and the median time since cancer diagnosis was 8.5 years (Q1-Q3: 4-16 years). After adjustment for age, sex, education, marital status, and number of comorbidities, compared with a non-cancer population, cancer survivors were more likely to experience falls (OR = 1.38; 95% CI: 1.04-1.83), and to report poor health (OR = 1.49; 95%CI: 1.83-2.06), but cancer survivorship was not associated with impairments in instrumental activities of daily living (IADLs). Age and university education, but neither the time from cancer diagnosis nor the number of comorbidities, were associated with impairments in cancer survivors. Three or more chronic diseases were found in over 50% of cancer survivors and in 38% of the noncancer population (p < 0.001). Conclusions Cancer survivors over the age of 65 years have a higher prevalence of falls, are more likely to report poor health status, and have a higher number of chronic conditions than the non-cancer population, but they maintain independence in IADLs. Advanced age and elementary education are associated with increased occurrence of functional impairments in older cancer survivors Implications for cancer survivors Older cancer survivors may require preventive services to reduce the risk of functional declin

National experience with adenosine deaminase deficiency related SCID in Polish children

IntroductionDeficiency of adenosine deaminase (ADA) manifests as severe combined immunodeficiency (SCID), caused by accumulation of toxic purine degradation by-products. Untreated patients develop immune and non-immune symptoms with fatal clinical course. According to ESID and EBMT recommendations enzyme replacement therapy (ERT) should be implemented as soon as possible to stabilize the patient’s general condition, normalize transaminases, treat pulmonary proteinosis, bone dysplasia, and protect from neurological damage. Hematopoietic stem cell transplantation (HSCT) from a matched related donor (MRD) is a treatment of choice. In absence of such donor, gene therapy (GT) should be considered. HSCT from a matched unrelated donor (MUD) and haploidentical hematopoietic stem cell transplantation (hHSCT) are associated with worse prognosis.Material and methodsWe retrospectively evaluated the clinical course and results of biochemical, immunological and genetic tests of 7 patients diagnosed in Poland with ADA deficiency since 2010 to 2022.ResultsAll patients demonstrated lymphopenia affecting of T, B and NK cells. Diagnosis was made on the basis of ADA activity in red blood cells and/or genetic testing. Patients manifested with various non-immunological symptoms including: lung proteinosis, skeletal dysplasia, liver dysfunction, atypical hemolytic-uremic syndrome, and psychomotor development disorders. Five patients underwent successful HSCT: 3 patients from matched unrelated donor, 2 from matched sibling donor, and 1 haploidentical from a parental donor. In 4 patients HSCT was preceded by enzyme therapy (lasting from 2 to 5 months). One patient with multiple organ failure died shortly after admission, before the diagnosis was confirmed. None of the patients had undergone gene therapy.ConclusionsIt is important to diagnose ADA SCID as early as possible, before irreversible multi-organ failure occurs. In Poland HSCT are performed according to international immunological societies recommendations, while ERT and GT are less accessible. Implementation of Newborn Screening (NBS) for SCID in Poland could enable recognition of SCID, including ADA-SCID

Analiza porównawcza torów pocisków 7.62 × 51 mm wystrzelonych z różnymi prędkościami początkowymi

The subject of the analysis involves the trajectories of 7.62 mm Lapua Scenar GB432 projectiles and “Ball” lead core projectiles manufactured by MESKO S.A. (Poland) fired at different initial velocities from 16-, 20- and 26-inch-long barrels. Calculations in the scope of the external ballistics concerning the characteristics of the trajectories of projectile fired from the analysed weapons were made using the PRODAS 3.5 software by Arrow Tech, using a mathematical model of the solid body movements with six degrees of freedom. During the analyses, the phenomena of the internal and transient ballistics and barrel vibrations were not taken into account. The subject of the study was only the trajectory of a projectile fired with a specific initial velocity corresponding to a barrel of a given length. The impact of wind was assessed by modifying the atmosphere model by adding a side wind blowing at a constant velocity throughout the distance The results allowed the analysis of the effect of the barrel length and the associated initial velocity of the projectile on the nature of the projectile trajectory, especially the obtained overheight path and projectile range. The impact of the side wind on different types of projectiles was also assessed. When shooting precision rifles, it is better to use rounds with heavy projectiles, optimized for long-distance shooting. Lightweight-projectile rounds can be successfully used in the semi-automatic rifles used for support at the lowest levels, where more manoeuvrability (including barrels with a length not exceeding 20 inches) and higher fire rate is required, and, at the same, where shooting at distances exceeding 500 m is not necessary. Lightweight-projectile rounds can also be successfully used for marksmanship training at distances below 500 m, where the differences between the trajectories of different projectiles are the least.Przedmiotem analizy są tory pocisków 7,62 mm Lapua Scenar GB432 oraz pocisków z rdzeniem ołowianym „Ball” produkcji MESKO S.A. wystrzelone z różnymi prędkościami początkowymi z luf o długościach 26, 20 i 16 cali. Obliczeń z zakresu balistyki zewnętrznej, dotyczących charakterystyki torów pocisków wystrzelonych z analizowanej broni dokonano za pomocą oprogramowania PRODAS 3.5 firmy Arrow Tech korzystając z modelu matematycznego ruchu ciała stałego o sześciu stopniach swobody. W trakcie analiz nie brano pod uwagę zjawisk balistyki wewnętrznej i przejściowej ani drgań lufy. Przedmiotem rozważań był jedynie tor pocisku wystrzelonego z określoną, odpowiadającą lufie o danej długości, prędkością początkową. Wpływ wiatru oceniono modyfikując model atmosfery poprzez dodanie wiatru bocznego wiejącego ze stałą prędkością na całym dystansie. Uzyskane wyniki pozwoliły dokonać analizy wpływu długości lufy i związanej z nią, prędkości początkowej pocisku na charakter toru pocisku, a zwłaszcza uzyskane na torze przewyższenia oraz donośność pocisków. Oceniono również wpływ wiatru bocznego na różne typy pocisków. Przy strzelaniu z karabinów precyzyjnych lepiej stosować amunicję z pociskami ciężkimi, optymalizowaną do strzelań dalekodystansowych. Naboje z pociskiem lekkim mogą być z powodzeniem stosowane w karabinach samopowtarzalnych stosowanych do wsparcia na najniższym szczeblu, od których wymaga się większej manewrowości (w tym lufy o długości nie większej niż 20 cali) i większej intensywności ognia, a jednocześnie nie wymaga się strzelania na dystanse przekraczające 500 m. Amunicja z pociskiem lekkim może być też z powodzeniem stosowana do szkolenia strzeleckiego na dystansach poniżej 500 m, gdzie różnice między torami różnych pocisków są najmniejsze