Resistance to thyroid hormone with a mutation of the thyroid β receptor gene in an eight-month-old infant — a case report

Introduction: Resistance to thyroid hormone (RTHβ) is a rare syndrome of impaired tissue responsiveness to thyroid hormones (THs). The disorder has an autosomal dominant or recessive pattern of inheritance. Most of the reported mutations have been detected in the thyroid hormone receptor β gene (THRβ). Case report: Authors present an eight-month-old infant with poor linear growth, decreased body weight, tachycardia, positive family history, and neonatal features suggestive of RTHβ. Both our patient and his mother had elevated free thyroxine, free triiodothyronine, and non-suppressed thyrotropin (TSH) concentration. The fluorescent sequencing analysis showed a heterozygous mutation c.728G > A in TRβ gene. This pathogenic variant is known to be associated with THR. Conclusions: The clinical presentation of RTHb is variable, ranging from isolated biochemical abnormalities to symptoms of thyrotoxicosis or hypothyroidism. The syndrome should be suspected in patients with increased serum TH level, accompanied by a normal or elevated TSH concentration. The affected patients require individualised management.Introduction: Resistance to thyroid hormone (RTHβ) is a rare syndrome of impaired tissue responsiveness to thyroid hormones (THs). The disorder has an autosomal dominant or recessive pattern of inheritance. Most of the reported mutations have been detected in the thyroid hormone receptor β gene (THRβ). Case report: Authors present an eight-month-old infant with poor linear growth, decreased body weight, tachycardia, positive family history, and neonatal features suggestive of RTHβ. Both our patient and his mother had elevated free thyroxine, free triiodothyronine, and non-suppressed thyrotropin (TSH) concentration. The fluorescent sequencing analysis showed a heterozygous mutation c.728G > A in TRβ gene. This pathogenic variant is known to be associated with THR. Conclusions: The clinical presentation of RTHb is variable, ranging from isolated biochemical abnormalities to symptoms of thyrotoxicosis or hypothyroidism. The syndrome should be suspected in patients with increased serum TH level, accompanied by a normal or elevated TSH concentration. The affected patients require individualised management

How does L1 and L2 exposure impact L1 performance in bilingual children? : evidence from Polish-English migrants to the United Kingdom

Most studies on bilingual language development focus on children’s second language (L2). Here, we investigated first language (L1) development of Polish-English early migrant bilinguals in four domains: vocabulary, grammar, phonological processing and discourse. We first compared Polish language skills between bilinguals and their Polish non-migrant monolingual peers, and then investigated the influence of the cumulative exposure to L1 and L2 on bilinguals’ performance. We then examined whether high exposure to L1 could possibly minimize the gap between monolinguals and bilinguals. We analyzed data from 233 typically developing children (88 bilingual, 145 monolingual) aged 4;0 to 7;5 (years; months) on six language measures in Polish: receptive vocabulary, productive vocabulary, receptive grammar, productive grammar (sentence repetition), phonological processing (non-word repetition) and discourse abilities (narration). Information about language exposure was obtained via parental questionnaires. For each language task, we analyzed the data from the subsample of bilinguals who had completed all the tasks in question and from monolinguals matched one-on-one to the bilingual group on age, SES (measured by years of mother’s education), gender, non-verbal IQ and short term memory. The bilingual children scored lower than monolinguals in all language domains, except discourse. The group differences were more pronounced on the productive tasks (vocabulary, grammar, phonological processing) and moderate on the receptive tasks (vocabulary and grammar). L1 exposure correlated positively with the vocabulary size and phonological processing. Grammar scores were not related to the levels of L1 exposure, but were predicted by general cognitive abilities. L2 exposure negatively influenced productive grammar in L1, suggesting possible L2 transfer effects on L1 grammatical performance. Children’s narrative skills benefitted from exposure to two languages: both L1 and L2 exposure influenced story structure scores in L1. Importantly, we did not find any evidence (in any of the tasks in which the gap was present) that the performance gap between monolinguals and bilinguals could be fully closed with high amounts of L1 input

Interdyscyplinarna opieka nad pacjentem z chorobą nowotworową

Praca recenzowana / peer-reviewed paperZ radością oddajemy do rąk Czytelników monografię, która powstała przy współpracy Polskiego Stowarzyszenia Pielęgniarek Onkologicznych oraz Wydziału Zdrowia i Nauk Medycznych Krakowskiej Akademii im. Andrzeja Frycza Modrzewskiego. Celem niniejszej publikacji jest przygotowanie pielęgniarki do pełnienia specjalistycznej, profesjonalnej opieki nad chorym z chorobą nowotworową oraz nad jego rodziną. Monografi a składa się z części opracowanych zarówno przez praktyków, jak i teoretyków; jest pierwszą z cyklu publikacji przeznaczonych dla osób zajmujących się opieką nad chorym onkologicznie. Jej celem jest przedstawienie przede wszystkim modeli opieki nad pacjentami, praktycznych aspektów relacji pacjent – pielęgniarka, oraz doniesień z tych badań naukowych, których wyniki mają zastosowanie w praktyce pielęgniarskiej

Ból i cierpienie

Praca recenzowana / peer-reviewed pape

Zagrożenia zdrowotne wśród dzieci i młodzieży. T. 2

Praca recenzowana / Peer-reviewed pape

Interdyscyplinarne aspekty nauk o zdrowiu

Praca recenzowana / Peer-reviewed pape

Lifestyle and eating disorders in children and adolescents who underwent rehabilitation in ‘Szczawno-Jedlina SA’

WSTĘP. Zaburzenia odżywiania stanowią coraz istotniejszy problem zdrowotny. Dotyczą 20% dzieci w wieku szkolnym. Z badań wynika, że dzieci, u których stwierdzono otyłość w wieku 6 lat, w 25% przypadków będą otyłe w wieku dorosłym, a w odniesieniu do otyłych 12-latków odsetek ten wynosi 75%. Celem niniejszej pracy było zbadanie i określenie stylu życia ze szczególnym uwzględnieniem poziomu aktywności fizycznej i znajomości zasad zdrowego żywienia w zależności od występowania zaburzeń odżywiania u uczestników specjalistycznego turnusu rehabilitacyjnego w „Uzdrowisku Szczawno-Jedlina” SA. MATERIAŁ I METODY. Badania przeprowadzono w „Uzdrowisku Szczawno-Jedlina” SA podczas dwóch specjalistycznych turnusów rehabilitacyjnych dla dzieci z zaburzeniami odżywiania. Przebadano 50 dzieci (29 dziewcząt i 21 chłopców) w wieku 13– –17 lat. Oznaczono masę ciała i wzrost oraz wskaźnik masy ciała. W badaniach posłużono się anonimową ankietą dotyczącą aktywności fizycznej, nawyków żywieniowych oraz stanu psychicznego dzieci. WYNIKI. W badanej grupie 48% dzieci miało nadwagę, 22% niedowagę i 30% normatywną masę ciała. Sto procent dzieci z nadwagą, 1 dziecko z prawidłową masą ciała i 3 dzieci z niedowagą uważało swoje ciało za źle zbudowane. Jednocześnie 46,5% dzieci z normatywną masą ciała, 21% z nadwagą i 82% z niedowagą poświęcało swojemu wyglądowi dużo czasu i były to przede wszystkim dziewczynki. WNIOSKI. Z występowaniem zaburzeń odżywiania ściśle wiązały się złe nawyki żywieniowe, obniżona aktywność fizyczna oraz zaniżona samoocena.INTRODUCTION. Eating disorders are increasingly important health problem affecting 20% of school-age children. Research shows that 25% of children who are obese at the age of 6 years will be obese in adulthood, while among obese 12 year olds this percentage is as high as 75%. The aim of this study was to investigate and determine the lifestyle with particular emphasis on physical activity level and knowledge of the principles of healthy nutrition, depending on the prevalence of eating disorders in children who underwent specialized rehabilitation in ‘Szczawno-Jedlina Spa’. MATERIALS AND METHODS. The study was conducted in ’Szczawno- Jedlina Spa’ during two specialized rehabilitation periods. We studied 50 children (29 females and 21 males), aged from 13 to 17 years. For each participant, body weight and height were measured and body mass index was calculated. Physical activity level, dietary habits and children’s mental state was assessed by an anonymous survey. RESULTS. In the study group, 48% of children were overweight, 22% underweight and 30% had normal body mass. All overweight children, one child with normal body mass and three underweight children had negative body image perception. At the same time, 46.5% of children with normal body mass, 21% of overweight and 82% of underweight children, mainly girls, devoted a lot of time to their physical appearance. CONCLUSION. Eating disorders are closely related to poor eating habits, reduced physical activity and low self-esteem

Conferences in Applied Mathematics

XLVI Ogólnopolska Konferencja Zastosowań Matematyki, 5--12 września 2017,  Zakopane-Kościelisko (Ł. Stettner)Krótka historia Seminarium Zastosowań Matematyki. XLVII Seminarium Zastosowań Matematyki w Kobylej Górze(M. Chalfen)XXIII Krajowa Konferencja Zastosowań Matematyki w Biologii i Medycynie (Urszula Foryś).Jedenaste Warsztaty ISDG W Warszawie (Agnieszka Wiszniewska-Matyszkiel)XLIII Konferencja ,,Statystyka Matematyczna'' (P. Grzegorzewski)Semestr Simonsa z Biologii Matematycznej (J. Miękisz)XLVI Nationalwide Conference on Applications of Mathematics, 5 - 12 September 2017, Zakopane-Kościelisko (Ł. Stettner)    A brief history of Mathematics Applications Seminar. XLVII Seminar on Applications of Mathematics in Kobyla Góra (Chalfen)XXIII Nationalwide Conference on Applications of Mathematics in Biology and Medicine (Urszula Foryś). Eleventh ISDG Workshops in Warsaw (Agnieszka Wiszniewska-Matyszkiel)XLIII Conference "Mathematical Statistics" (P. Grzegorzewski)Simons Semester at Banach Center. Mathematical Biology (J. Miekisz

Heart disease in the course of systemic sclerosis – an observational study

Introduction Cardiac involvement is one of the major mortality factors in systemic sclerosis (SSc). This observational study aimed to compare patients with and without heart involvement in the course of SSc. Material and methods Electronic medical records of patients treated between January 2021 and August 2022 in the Department of Rheumatology were searched for the diagnosis of SSc (ICD-10 code M47). The clinical characteristics of patients with and without heart involvement in the course of SSc were compared. Results Out of 36 patients with SSc, 7 patients were diagnosed with heart disease in the course of SSc. The major type of cardiac involvement was myocarditis (71%). The majority of patients with heart involvement had elevated troponin (86%) and NT-proBNP (71%) concentrations. The most common finding observed in echocardiography was diastolic failure (71%). The most frequent abnormality found in 24-hour Holter ECG was isolated supraventricular extrasystoles (100%). Risk factors for developing heart disease in the course of SSc were male gender (p = 0.018), diffuse type of SSc (p = 0.03), higher values of modified Rodnan skin score (p < 0.001), gastrointestinal tract involvement (p = 0.027) and myositis (p = 0.018). Conclusions Optimal screening for heart disease is needed in this group of patients