Ocena typu niedomogi odpornościowej u dzieci z zespołem Downa oraz próba ustalenia standardów postępowania zapobiegającego infekcjom w tej grupie

Praca wykonana w: Klinika Pediatrii, Hematologii, Onkologii i Endokrynologii

Rzadki przypadek obumierania podskórnej tkanki tłuszczowej u noworodków

Introduction. Subcutaneous fat necrosis of the newborn (SCFN) isa rare disorder of the subcutaneous adipose tissue. Subcutaneous fat necrosis of the newborn usually appears days to weeks after a complicatedperinatal period and the most frequent risk factors are birthasphyxia, birth trauma and meconium aspiration. Clinically, the diseaseis characterized by oedematous lesions evolving into indurated,erythematous plaques and nodules. Skin lesions dissolve spontaneouslyin weeks/months.Objective. To present a rare case of subcutaneous fat necrosis of thenewborn.Case report. Monthly infant, born at time of caesarean due to fluctuationsin heart rate in a state of severe asphyxia. As a cause of respiratorydistress, meconium aspiration syndrome was confirmed. In the firstdays of life transient thrombocytopenia and elevated markers ofinflammation in the laboratory tests were observed. In addition, oedematouslesions evolving into indurated plaques and nodules on theback and upper limbs appeared. Based on a typical clinical picturediagnosis of subcutaneous fat necrosis of newborn was diagnosed.During the 3-month follow-up a spontaneous regression of the skinlesions without scarring was observed.Conclusions. Subcutaneous fat necrosis of the newborn is a rare diseaseusually with mild course. However, in some cases skin may bea visual marker of life-threatening metabolic disturbances such ashypercalcaemia

Anthropometric Parameters in Patients with Fatty Acid Oxidation Disorders: A Case–Control Study, Systematic Review and Meta-Analysis

This study compared the anthropometric parameters of patients with fatty acid oxidation disorders (FAOD) and healthy controls, showing an increased prevalence of abnormal body weight (overweight and obesity) in the FAOD group. First, differences in BMI, BMI percentiles and z-scores, and weight and weight percentiles were compared in a cohort of 39 patients with FAOD and 156 healthy controls, as well as between patients born before and after the introduction of a populational newborn screening programme (NBS) in 2014 in Poland. We also performed a systematic literature review yielding 12 studies mentioning anthropometric parameters in 80 FAOD patients and 121 control subjects, followed by a meta-analysis of data from 8 studies and our cohort. There were significant differences in body weight percentiles (p = 0.001), BMI (p = 0.022), BMI percentiles (p = 0.003) and BMI z-scores (p = 0.001) between FAOD patients and controls in our cohort but not between pre- and post-newborn-screening patients. The meta-analysis did not show any differences in weight and BMI in all tested subgroups, i.e., all FAOD patients vs. controls, medium-chain acyl-CoA dehydrogenase (MCADD) patients vs. controls and patients with FAOD types other than MCAD vs. controls. These results, however, should be interpreted with caution due to the overall low quality of evidence as assessed by GRADE, the small sample sizes and the significant heterogeneity of the included data

The Impact of the COVID-19 Pandemic on the Perception of Health and Treatment-Related Issues among Patients with Phenylketonuria in Poland—The Results of a National Online Survey

There is agreement that the pandemic has affected the healthcare system and behaviour of patients. This study aims to identify problems encountered by patients with phenylketonuria (PKU) and their parents/caregivers during the six-week pandemic lockdown in Poland (15 March to 30 April 2020). To determine the factors that influenced health and treatment-related issues, as well as the respondents’ perception of the impact of the pandemic, study participants were asked to complete a non-validated online questionnaire comprising 31 questions (including 27 single-choice, two multiple-choice and two open-ended ones). A total of 571 patients or their parents completed the questionnaire, with 9.5% of respondents not performing any blood phenylalanine (Phe) test in the analysed period, 21.3% declaring a blood Phe increase, and 15.3% a decrease. Increased problems in contacting the doctor or dietitian were reported by 26.1% of subjects, whereas 39.3% of them felt restricted access to dietary products. Most (63.4%) participants were satisfied with remote contact with their PKU clinic. Better compliance was associated with higher odds of acceptance of remote contact and of reporting fewer problems with contacting the doctor, and with lower odds of missing Phe testing. Self-reported high stress was associated with higher odds of reporting the limited availability of low-Phe products and Phe-free formulas, as well as with increased Phe concentrations and non-PKU-related health problems. These patients also had poor dietary compliance and experienced more problems in contacting specialists. Health and treatment-related problems experienced during the pandemic lockdown were related to a higher intensity of stress in patient’s family and worse therapy compliance before the pandemic. Previous experience of remote visits resulted in a better perception of this method of contact. It seems that this form of communication should be popularized and improved to increase therapy effectiveness in case of different limitations in the future. Special attention should be paid to vulnerable patients who may be at extra risk when the provision of standard care is affected

Phenylketonuria Patients’ and Their Caregivers’ Perception of the Pandemic Lockdown: The Results of a National Online Survey

The first pandemic lockdown dramatically impacted many aspects of everyday life, including healthcare systems. The purpose of this study was to identify problems of patients with phenylketonuria (PKU) and their parents/caregivers during that time. We aimed to analyse potential differences in the self-reported compliance and characteristics of contacts with a doctor/dietitian before and during the pandemic lockdown and the perception of access to special food and opinions on remote contacts between a particular group of respondents. All participants (n = 614) were asked to complete an online questionnaire that consisted of 31 questions on pandemic-related events and circumstances which may have directly or indirectly impacted health and treatment. The people who completed the survey were divided into three groups: parents of PKU children (n = 403), parents of PKU adults (n = 58) and PKU patients older than 16 years (n = 153). The differences among the three analysed groups were found in the number of contacts, the way of contacting a doctor/dietitian during the pandemic and satisfaction with remote contact. Caregivers of children with PKU reported better therapy compliance, more frequent contacts with specialists and more satisfaction with remote visits than adult patients. We also observed a relationship between satisfaction from remote contact and self-reported frequency of contacts with a doctor/dietitian, as well as a relationship between satisfaction from remote contact and recommended blood Phe levels reported by both patients and caregivers. Travel time exceeding three hours from the respondents’ location to their doctor was associated with higher odds of their recognition of remote contact as a method of PKU treatment only in the group of caregivers. In the caregiver groups, the reported worse access to low-Phe products during the lockdown was linked to the perceived difficulty of maintaining the diet. However, such a relationship was not found among patients. In conclusion, significant differences in the perception of the pandemic lockdown and its impact on health and treatment-related issues were found