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Abstract

This review discusses a selection of congenital disorders of glycosylation that show peculiar features, such as an unusual presentation, different phenotypes, a novel biochemical/genetic mechanism, a relatively high frequency or a relatively efficient treatment.

Abstract

Over the last two decades, gene therapy has been successfully translated to many rare diseases. The number of clinical trials is rapidly expanding and some gene therapy products have now received market authorisation in the western world. Inherited metabolic diseases (IMD) are orphan diseases frequently associated with a severe debilitating phenotype with limited therapeutic perspective. Gene therapy is progressively becoming a disease-changing therapeutic option for these patients. In this review, we aim to summarise the development of this emerging field detailing the main gene therapy strategies, routes of administration, viral and non-viral vectors and gene editing tools. We discuss the respective advantages and pitfalls of these gene therapy strategies and review their application in IMD, providing examples of clinical trials with lentiviral or adeno-associated viral gene therapy vectors in rare diseases. The rapid development of the field and implementation of gene therapy as a realistic therapeutic option for various IMD in a short term also require a good knowledge and understanding of these technologies from physicians to counsel the patients at best.

Abstract

Inherited metabolic disorders (IMDs) are a rare and diverse group of metabolic conditions mainly caused by enzyme deficiencies, and in some of these, hormonal dysfunction is a relatively common complication. It may present in childhood and subsequently hormonal replacement is required throughout their life. Endocrinopathies can be a presenting symptom of an IMD in adulthood, which should be suspected when associated with multiorgan involvement (neurological, musculoskeletal or liver, etc.). A single IMD can affect any gland with hypogonadism, adrenal insufficiency, diabetes mellitus and thyroid dysfunction being the most common. In some cases, however, it is diagnosed later in their adult life as a secondary complication of previous therapies such as chemotherapy used during Haematopoietic Stem Cell Transplantation (HSCT) in childhood.

The mechanisms of endocrine dysfunction in this group of conditions are not well understood. Regardless, patients require ongoing clinical support from the endocrine, metabolic, bone metabolism and fertility specialists throughout their life.

Hormonal profiling should be part of the routine blood test panel to diagnose asymptomatic endocrine disorders with delayed manifestations. It is also worth considering screening for common hormonal dysfunction when patients exhibit atypical non-IMD related symptoms. In some adult-onset cases presenting with multiple endocrinopathies, the diagnosis of an IMD should be suspected.

Given that new therapies are in development (e.g. gene therapies, stem cell therapies, pharmacological chaperone and substrate reduction therapies), clinicians should be aware of their potential long-term effect on the endocrine system.

Abstract

Objective

The aim of the study was to analyse the sound environment and the range of sound levels recorded in the delivery room immediately after the birth of a newborn.

Materials and methods

The research method was open observation combined with recording measurements of the sound intensity levels. The material was collected by means of an observation questionnaire. The research was conducted in 11 maternity hospitals in Warsaw. A total of 304 vaginal labours were analysed.

Results

The average sound level in the delivery room after the birth of a newborn was 58.03 ± 7.66 dB, and the sound intensity ranged from 40.30 dB to 78.0 dB. Staff conversations were the most common sources of noise. A statistically significant relationship between the number of people in the delivery room and sound intensity was observed. The number of people positively correlated with the average sound level (R=0.520, p<0.001).

Conclusions

Based on the tests, it was found that the average sound level in the delivery room exceeded the recommended standards. The noise was mainly caused by the activity of staff. The present study indicates the need for staff education and the use of noise reduction procedures.

Abstract

Atopic dermatitis (AD) is the most common atopic disease in young children and most common skin disease in childhood. In the Polish population, the incidence of AD in the group of children aged 6–14 is about 4% and it is underestimated. The disease is chronic and recurrent, and the leading symptom is skin pruritus that in the mechanism of the vicious circle is accompanied by scratching that causes generalized infections. The overall problems lead to a decrease in the quality of life of the child and its parents and to an increased risk of psychosomatic diseases. The complex pathomechanism of AD is due to chronic inflammation of the skin, in which various cell phenotypes are involved. The management is comprehensive and it is aimed at reducing inflammation, improving the skin barrier function, reducing the symptoms of dryness and itching of the skin and secondarily improving the quality of life. The treatment includes intensive skincare, anti-inflammatory treatment based on the proactive use of topical glucocorticosteroids and topical calcineurin inhibitors. Periods of exacerbation of lesions require intensified treatment. In particularly severe, recurrent cases, treatment options can be extended to systemic immunosuppressive drugs, with awareness of their adverse effects. Previous year has brought significant progress in the current treatment of AD in the form of biological treatment. Cytokines and other mediators that play an important role in the pathogenesis of skin inflammation have become a target for new forms of therapy. Drugs for which interleukin (IL)-4 and IL-13 are the targets are particularly represented. Dupilumab is the first biological drug approved for the general treatment of children aged >12 years with moderate to severe AD. Another therapeutic option for topical use is crisaborole, a phosphodiesterase-4 inhibitor. This study presents the current state of research on biological drugs in AD.

Abstract

Nowadays, childhood obesity is one of the key health problems in European countries. This article presents a study that is part of the World Health Organization (WHO) Childhood Obesity Surveillance Initiative (COSI) implemented in the WHO European Region since 2007. The main goal of the study is to monitor obesity in early school-aged children. The methodology of the study, the thematic scope of research tools, the organisational principles and the development of research carried out in Poland in the context of existing international assumptions are presented. In Poland, two rounds of the study were financed by the National Health Program, in cooperation with the WHO Office in Poland. The first study was carried out from November to December 2016 on a group of 3,408 children aged 8 years from 135 schools and 2,298 parents, in 9 voivodeships in Poland. The second round was carried out in the last quarter of 2018 in 12 voivodeships. A group of 2691 pupils aged 8 years from the 2nd grade of 140 primary schools in Poland and 2450 parents were examined. Data on body mass index distribution and lifestyle-related behaviours of children and their families were collected. Poland is the first country where blood pressure was measured in all participants of the COSI study. Considering the growing obesity epidemic, reliable monitoring of overweight and obesity in early childhood and the study of determinants of this phenomenon should be a priority for public health. The results obtained from this type of research are a reference point for the design and implementation of accurate prevention initiatives in this age group.

Abstract

Congenital hepatic arteriovenous malformations (HAVMs), though rare, carry high morbidity and mortality rates if left undiagnosed. The usual clinical presentation is in infancy with congestive heart failure, anaemia and hepatomegaly. There are reports of presentation as persistent pulmonary hypertension in newborns and reports of their spontaneous regression as well. We describe a healthy full-term neonate with HAVM who was presented with isolated massive hepatomegaly and underwent surgical ligation.

Abstract

Objective

The study aimed to analyse the factors that influence the duration of breastfeeding among Polish women.

Materials and methods

The study group consisted of 1,024 mothers of children aged 6–18 months who were breastfeeding or are currently breastfeeding. Data were collected through a computer-assisted Web interview. Univariate analysis and correspondence analysis were performed to determine the predictors of exclusive breast-feeding and breastfeeding among Polish women.

Results

Maternal age, maternal education, pre-pregnancy body mass index, voivodeship, birth weight and due time had a significant impact on breastfeeding duration (p < 0.05). Mothers who were older (35± years of age), had a higher level of education and lived in mid-sized cities were more often breastfeeding exclusively, in accordance with the World Health Organization's recommendations. Women who were younger, had a lower level of education, lived in rural areas, and had a lower BMI breastfed exclusively for a shorter period. The most frequently suggested reason for breastfeeding cessation was maternal concerns about insufficient milk supply (41%). The percentage of women who gave up breastfeeding before the 6th month following the delivery was the highest in the northeastern region of Poland (53%), whereas the percentage of women who stopped exclusive breastfeeding was the highest in the southwest region of Poland (69.4%).

Conclusions

Our study highlights that the reasons for breastfeeding cessation are often complex. Therefore, the promotion of breastfeeding for the first 6 months of life should be a social responsibility.

Abstract

Background

Alternating hemiplegia of Childhood (AHC) is a rare disease manifested by transient episodes of hemiplegia and other neurological disorders. Delayed motor development has been reported in patients with AHC, but detailed features of the motor impairment have not been described so far.

Aim

The aim of the study was to evaluate gross motor function between attacks in a group of Polish patients with AHC.

Materials and methods

The interictal gross motor function was assessed using the Gross Motor Function AHC scale, which consisted of 41 motor tasks. The study group consisted of 10 patients with AHC older than 2 years of age. The control group consisted of 30 age- and gender-matched subjects. The results achieved in each of the 41 tasks by the study subjects were compared to the results obtained with controls using the non-parametric Mann–Whitney U-test. In tasks 38–41, mean times were compared between the study subjects and controls.

Results

The study revealed gross motor function impairment in patients with AHC. The greatest differences compared to controls concerned such skills as standing on toes, walking on toes, walking on heels, as well as running and hopping on one leg and on alternate legs. Significant impairment of the motor function of the upper limbs was also found.

Conclusions

The study confirmed motor function impairment between attacks in patients with AHC. The study findings may indicate the need to introduce individualised physiotherapy management of patients with AHC.