Search

Background: Studies have shown the risk factors for COVID-19 severity in children, including comorbidities, but information on the infection course in children with life-limiting conditions is sparse., Aim: To describe the effect of COVID-19 on pediatric patients receiving palliative care due to life-limiting conditions., Design: We conducted retrospective cohort study. The WHO Clinical Progression Scale was used to measure COVID-19 severity., Setting/participants: Seven of the 24 invited pediatric palliative care centers participated in this study. We analyzed the medical records of children under palliative care with confirmed COVID-19 (January 2020-April 2022)., Results: Records of 60 patients with COVID-19 aged 0.24 to 21.6 years (mean (SD); 9.8 (6.6)) were collected. The largest group of patients with COVID-19 was children with congenital malformations and chromosomal abnormalities (42%); the most common manifestation was fever (85%). Bacterial coinfection was confirmed in 17 (28%) children. Fifteen (25%) children required hospitalization, including four admitted to the Intensive Care Unit. Mild COVID-19 was identified in 44 (73%) children, moderate in 11 (18%), severe in 3 (5%), and death in 2 (3%). Six of the 20 eligible children were vaccinated against SARS-CoV-2, followed by 16 mothers and fathers., Conclusion: In the study population initial presentation of COVID-19 was predominantly a mild; however, the small sample size precluded definitive conclusions. For children under palliative care, we should identify if they have an advance care plan for COVID-19, such as desires for intensive care support. Further studies are needed to define the short and long-term effects of COVID-19 in children with life-limiting conditions., Competing Interests: Declaration of conflicting interestsThe authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article. Data sharingThe data and analytical materials related to this study were maintained and managed according to organizational guidelines and ethical regulations. This information will not be made publicly available in the interest of patient confidentiality and anonymity. Requests for further information were directed to the corresponding author.

Introduction: Wady letalne prowadzą do wewnątrzmacicznego zgonu płodu lub dziecka bezpośrednio po urodzeniu lub we wczesnym okresie niemowlęcym, bez względu na zastosowane leczenie. W przypadku wad letalnych nie ma możliwości skutecznej pomocy dziecku, mimo postępu mi zeadsytcoysnoyw ania najnowocześniejszej aparatury lub terapii. Rodzice, którzy decydują się na urodzenie dziecka z wadą letalną mogą być objęci perinatalną opieką hospicyjną, która ma charakter kompleksowy. Polega ona na wsparciu ciężarnej w okresie przygotowania do porodu, w czasie porodu i po porodzie oraz na wsparciu jej rodziny oraz obejmuje udzielenie rodzicom pełnej informacji o chorobie ich dziecka. Opieka nad dzieckiem po urodzeniu jest nastawiona na ochronę przed uporczywą terapią i zapewnienie dziecku opieki paliatywnej., Cel: Wykazanie znaczenia perinatalnej opieki paliatywnej dla kobiet w ciąży, u których wyniki badań prenatalnych wskazywały na ciężkie zaburzenie rozwojowe u płodu o potencjalnie letalnym rokowaniu oraz przedstawienie schematu postępowania według modelu wewnątrzszpitalnego hospicjum perinatalnego., Materiał I Metody: Analizą retrospektywną objęto dokumentację 67 pacjentek skierowanych do Programu RAZEM we Wrocławiu w latach 2014-2018 z powodu nieprawidłowych wyników badań prenatalnych (ultrasonograficznych lub/i genetycznych), które wskazywały na ciężkie zaburzenie rozwojowe u płodu o potencjalnie letalnym rokowaniu. Dokonanoanalizy danych socjodemograficznych, danych klinicznych rozpoznania choroby u płodu, przebiegu ciąży i porodu, trybu postępowania w okresie prenatalnym, podczas porodu i po urodzeniu się dziecka., Wyniki: Do Programu zostało skierowanych 67 kobiet w wieku 20-43 lat (średnio 31,2), które zgłaszały się w okresie od 15 do 39 tygodnia ciąży (średnio w 25. tygodniu ciąży). Do opieki paliatywnej zakwalifikowano 57 kobiet, czyli 85% skierowanych do programu. Opiekę paliatywną kontynuowano u 51 pacjentek, ponieważ 6 kobiet w trakcie procesu diagnostycznego zdecydowało się na zakończenie ciąży (10,5%). Najczęstszymi zaburzeniami u płodów były aberracje chromosomowe, wady OUN i wady nerek. W 95% przypadków doszło do obumarcia wewnątrzmacicznego płodu lub śmierci noworodka., Wnioski: Perinatalna opieka paliatywna jest niezbędną formą opieki dla kobiet w ciąży, u których wyniki badań prenatalnych wskazują na ciężkie zaburzenie rozwojowe u płodu o potencjalnie letalnym rokowaniu. Model wewnątrzszpitalny hospicjum perinatalnego jest korzystną formą opieki, zapewnia jej spójność i dobrą komunikację w zespole, co wpływa na dobrą jakość opieki., Introduction: Lethal defects lead to the intrauterine death of the fetus or the passing away of the child immediately after birth or in early infancy, regardless of the treatment used. In the case of lethal defects, it is not possible to effectively help the child, despite using the most modern equipment or medicines in the treatment or the progress made by medicine. Parents, who decide to continue the pregnancy, although the fetus has a lethal defect that cannot be cured, may be covered by perinatal hospice care, which is comprehensive and consists in supporting the pregnant woman during the prenatal time, during delivery and after delivery and support of her family, giving full information to the parents about their child's illness. Childcare after birth is focused on protecting the infant from persistent therapy and providing him with appropriate conditions., Aim: To demonstrate the role of perinatal palliative care for pregnant women in whom the results of prenatal tests pointed to a severe developmental disorder in the fetus with a potentially lethal prognosis, and to present a pattern of behavior for their hospitalization in the perinatal hospice., Materials and Methods: The retrospective analysis included documentation of 67 patients referred to the RAZEM (TOGETHER) Program in Wrocław in 2014-2018 due to abnormal results of (ultrasound and / or genetic) prenatal tests, which indicated a serious developmental disorder in the fetus with potentially lethal prognosis. Analysis was conducted of sociodemographic data, clinical data on fetal diagnosis, pregnancy and delivery, the procedure for prenatal delivery and postnatal birth., Results: 67 women aged 20-43 years (mean 31.2) were referred to the RAZEM Program. Out of these, 57 women were enrolled for palliative care, which accounted for 85% of those referred to the program. Palliative care was continued in 51 patients, because 6 women decided to terminate their pregnancy during the diagnostic process (10.5%). The most common abnormalities in the fetuses were chromosomal aberrations, CNS defects and kidney defects. In 95% of the cases, intrauterine fetal death or neonatal death occurred., Conclusions: Perinatal palliative care is an indispensable form of care for pregnant women in whom the results of prenatal tests indicate a serious developmental disorder in the fetus with potentially lethal prognosis. The in-hospital model of a perinatal hospice is a beneficial form of care, as it ensures consistency and good communication in the team, which favourably affects its quality., (© 2019 Agnieszka Jalowska, Joanna Krzeszowiak, Agnieszka Stembalska, Krzysztof Szmyd, Mariusz Zimmer, Gizela Jagielska, Małgorzata Raś, Agnieszka Pasławska, Agnieszka Szafrańska, Dorota Paluszyńska, Tomasz Fuchs, Karolina Pesz, Maria Sąsiadek, Barbara Królak-Olejnik, Robert Śmigiel, published by Sciendo.)

Genetic disorders are the leading cause of infant morbidity and mortality. Due to the large number of genetic diseases, molecular and phenotype heterogeneity and often severe course, these diseases remain undiagnosed. In infants with a suspected acute monogenic disease, rapid whole-exome sequencing (R-WES) can be successfully performed. R-WES (singletons) was performed in 18 unrelated infants with a severe and/or progressing disease with the suspicion of genetic origin hospitalized in an Intensive Care Unit (ICU). Blood samples were also collected from the parents. The results from the R-WES were available after 5-14 days. A conclusive genetic diagnosis was obtained in 13 children, corresponding to an overall diagnostic yield of 72.2%. For nine patients, R-WES was used as a first-tier test. Eight patients were diagnosed with inborn errors of metabolism, mainly mitochondrial diseases. In two patients, the disease was possibly caused by variants in genes which so far have not been associated with human disease ( NARS 1 and DCAF5 ). R-WES proved to be an effective diagnostic tool for critically ill infants in ICUs suspected of having a genetic disorder. It also should be considered as a first-tier test after precise clinical description. The quickly obtained diagnosis impacts patient's medical management, and families can receive genetic counseling., Competing Interests: The authors declare no conflict of interest.

Background: It has recently been suggested that the adenosine A 2A receptor plays a role in several animal models of depression. Additionally, A 2A antagonists have reversed behavioral deficits and exhibited a profile similar to classical antidepressants., Methods: In the present study, imidazo- and pyrimido[2,1-f]purinedione derivatives (KD 66, KD 167, KD 206) with affinity to A 2A receptors but poor A 1 affinity were evaluated for their antidepressant- and anxiolytic-like activity. The activity of these derivatives was tested using a tail suspension and forced swim test, two widely-used behavioral paradigms for the evaluation of antidepressant-like activity. In turn, the anxiolytic activity was evaluated using the four-plate test., Results: The results showed the antidepressant-like activity of pyrimido- and imidazopurinedione derivatives (i.e. KD 66, KD 167 and KD 206) in acute and chronic behavioral tests in mice. KD 66 revealed an anxiolytic-like effect, while KD 167 increased anxiety behaviors. KD 206 had no effect on anxiety. Furthermore, none of the tested compounds increased locomotor activity., Conclusion: Available data support the proposition that the examined compounds with adenosine A 2A receptor affinity may be an interesting target for the development of antidepressant and/or anxiolytic agents., (Copyright © 2016 Institute of Pharmacology, Polish Academy of Sciences. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.)

Immunosuppressive therapy is the treatment of choice in children with acquired severe aplastic anemia (AA) and no HLA-matched family donor. The paper presents results of a multicenter study of 63 children with AA treated with rabbit antithymocyte globulin (r-ATG) and cyclosporine A as the first line treatment in the years 1996-2012. Therapeutic effects were evaluated at Days 112, 180, and 360. At Day 112, remission was achieved in 28 out of the 63 patients (44.4 %), complete remission in 10 patients (15.9 %), and partial remission in 18 (28.5 %). At Day 180, 31 patients (49.2 %) were in remission including 15 cases in complete (23.8 %), and 16 cases in partial remission (25.4 %). One year after therapy onset, 34 patients (64.9 %) were in remission including 24 patients (38.0 %) in complete and 10 (15.9 %) in partial remission. Relapse occurred in 4 patients, from 8 months up to 2 years and 2 months after remission. One child, 5 years after remission, was diagnosed with paroxysmal nocturnal hemoglobinuria. The estimated 10-year overall survival rate and 10-year event-free survival rate were 67 % and 57 %, respectively.