Search

Purpose: To obtain information on characteristics, management, current objective nutritional status and perception of nutritional status of children with cerebral palsy (CP) from healthcare professionals (HCPs) and caregivers. Materials and methods: A detailed survey of several items on eight main topics (general characteristics, motor function, comorbidities, therapies, anthropometry, feeding mode and problems and perceived nutritional status) was developed and tested for the study. Correlation between nutritional status and Gross Motor Function Classification System (GMFCS) levels was assessed using continuous variables (Z-scores for weight-for-age, height-for-age, weight-for-height, and body mass index-for-age), and categorical variables (being malnourished, stunted, or wasted). HCP and caregiver perceptions of the child's nutritional status as well as agreement between perceived and objective nutritional status and agreement between perceived nutritional status and concerns about the nutritional status were analyzed. Results: Data were available for 497 participants from eight European countries. Poorer nutritional status was associated with higher (more severe) GMFCS levels. There was minimal agreement between perceived and objective nutritional status, both for HCPs and caregivers. Agreement between HCP and caregiver perceptions of the child's nutritional status was weak (weighted kappa 0.56). However, the concerns about the nutritional status of the child were in line with the perceived nutritional status. Conclusions: The risk of poor nutritional status is associated with more severe disability in children and adolescents with CP. There is a mismatch between HCP and caregiver perceptions of participants' nutritional status as well as between subjective and objective nutritional status. Our data warrant the use of a simple and objective screening tool in daily practice to determine nutritional status in children and adolescents with CP., Danone Nutricia Research, Utrecht, the Netherlands; Nutricia Advanced Medical Nutrition in Czech Republic; Nutricia Advanced Medical Nutrition in Greece; Nutricia Advanced Medical Nutrition in Hungary; Nutricia Advanced Medical Nutrition in Italy; Nutricia Advanced Medical Nutrition in Poland; Nutricia Advanced Medical Nutrition in Slovakia; Nutricia Advanced Medical Nutrition in The Netherlands; Nutricia Advanced Medical Nutrition in Turkey; Danone Nutricia Research, This study was sponsored by Danone Nutricia Research, Utrecht, the Netherlands. Local financial support was provided by the local business units of Nutricia Advanced Medical Nutrition in Czech Republic, Greece, Hungary, Italy, Poland, Slovakia, The Netherlands, and Turkey. Medical writing support was provided by Tim Kelly, Medi-Kelsey Limited, funded by Danone Nutricia Research.

Leigh syndrome (LS) is a progressive neurodegenerative disease, characterized by extensive clinical, biochemical, and genetic heterogeneity. Recently, biallelic variants in DNAJC30 gene, encoding a protein crucial for the repair of mitochondrial complex I subunits, have been associated with Leber hereditary optic neuropathy and LS. It was suggested that clinical heterogeneity of DNAJC30-associated mitochondrial disease may be attributed to digenic inheritance. We describe three Polish patients, a 9-year-old boy, and female and male siblings, aged 17 and 11 years, with clinical and biochemical manifestations of LS. Exome sequencing (ES) identified a homozygous pathogenic variant in DNAJC30 c.152AG, p.(Tyr51Cys) in the 9-year-old boy. In the siblings, ES identified two DNAJC30 variants: c.152AG, p.(Tyr51Cys) and c.130_131del, p.(Ser44ValfsTer8) in a compound heterozygous state. In addition, both siblings carried a novel heterozygous c.484GT, p.(Val162Leu) variant in NDUFS8 gene. This report provides further evidence for the association of DNAJC30 variants with LS. DNAJC30-associated LS is characterized by variable age at onset, movement disorder phenotype and normal or moderately elevated blood lactate level. Identification of a candidate heterozygous variant in NDUFS8 supports the hypothesis of digenic inheritance. Importantly, DNAJC30 pathogenic variants should be suspected in patients with LS irrespective of optic nerve involvement.

Background Genotype-phenotype studies in type 1 diabetes (T1DM) patients are needed for further development of therapy strategies. Objective Our aims were to investigate the distribution of selected PTPN22 and FCRL3 gene polymorphisms and their associations with clinical course of disease in children with newly diagnosed T1DM from the Pomeranian region of Poland. Subjects/methods The prospective, longitudinal study of 147 children with newly diagnosed T1DM—autoimmune subtype was conducted. The PTPN22 c.1858T>C (rs2476601) and FCRL3 -169C>T (rs7528684) polymorphisms were analyzed using polymerase chain reaction-restriction fragment length polymorphism method (PCR-RFLP) and DNA sequencing. The frequencies of genotypes were compared between the study and population-matched control group (327 random anonymous samples from the Pomeranian region). Selected patients underwent a 24-monthly follow up [periodic re-evaluation of fasting C-peptide concentration (FCP) and hemoglobin A1c (HbA1c ) level]. Results A significantly lower coincidence of the PTPN22 c.1858CC and FCRL3 -169CC genotypes was found in the study group compared with controls (P = 0.04). The PTPN22 c.1858CC and FCRL3 -169CC genotype combination, restricted to female patients only, was associated with well-preserved residual β-cell function throughout the entire follow up (prolonged FCP level increase up to the sixth month of disease, with further very stable dynamics—FCP median level ≥0.67 ng/mL without significant decrease up to the 24th month). HbA1c levels in this subgroup also remained the lowest during the observation period. Conclusions/interpretation Ascertained phenomenon could be explained by an interacting mechanism of the two polymorphisms through estrogen-regulated nuclear factor kappa B signaling in regulatory T (Treg ) lymphocytes. This hypothesis, if confirmed, may lead to further development of Treg administration-based therapies.

Streszczenie Cel Celem pracy byla ocena zalezności pomiedzy podwyzszoną aktywnością aminotransferazy alaninowej (AIAT) a wystepowaniem zaburzen metabolicznych u otylych dzieci pochodzących z terenow wojewodztwa pomorskiego. Materialy i metody Badaniem objeto 103 otylych dzieci w wieku 2–18 lat, po raz pierwszy hospitalizowanych z powodu otylości, stale zamieszkujących na terenie wojewodztwa pomorskiego. Wyodrebniono dwie podgrupy chorych: z aktywnością AIAT ≤30 IU/l i >30 IU/l. Powyzsze dane przeanalizowano w powiązaniu z plcią, wiekiem pacjenta, wiekiem wystąpienia otylości, dlugością jej trwania, pomiarami ciśnienia tetniczego, BMI z-score, wynikami profilu lipidowego, hemoglobiny glikowanej (HbA 1c ) oraz doustnego testu tolerancji glukozy (OGTT). Wspolczynniki HOMAIR oraz HOMA-β uzyto celem oceny insulinooporności i funkcji komorek β trzustki. Wyniki Podwyzszone stezenia AIAT stwierdzono u 23 pacjentow (24,21%). Nie wykazano istotnych roznic pomiedzy czestością wystepowania zwiekszonej aktywności AIAT a plcią (p = 0,13) i wiekiem chorego (p = 0,05). W podgrupie pacjentow z aktywnością AIAT >30 IU/l stwierdzono znamiennie wyzsze wartości ciśnienia skurczowego (p = 0,03) i wyzsze poziomy insulinemii w 120 minucie OGTT (p = 0,025). Potwierdzono silną znamienną korelacje podwyzszonych stezen AIAT z czasem utrzymywania sie otylości (r = 0,42, p = 0,04). Dalsza analiza w podgrupach z uwzglednieniem plci wykazala istotną zaleznośc pomiedzy zwiekszoną aktywnością AIAT a insulinemią na czczo (p = 0,023) i HOMA-IR (p = 0,013) jedynie u chlopcow, przy jednocześnie znamiennie wyzszym u nich BMI z-score (p = 0,023). Wnioski Podwyzszona aktywnośc AIAT w związku z jej istotną korelacją z czasem utrzymywania sie otylości stanowi wazny marker zaburzen metabolicznych u otylych dzieci (zaburzen metabolizmu glukozy oraz wyzszego ryzyka nadciśnienia tetniczego). U chlopcow podwyzszone stezenia AIAT wspolistniejące z insulinoopornością mogą stanowic wazny predyktor szybszego rozwoju zaburzen metabolizmu glukozy.

An 11-year old girl with multihormonal pituitary deficiency previously cured from craniopharyngioma was admitted to the endocrinology Department because of pathological daytime sleepiness. At the age of 7 she had undergone brain tumor surgery with adjuvant radiotherapy (complete dose of 5400 cGy). She had been given replacement therapy of thyroid hormone, cortisol and adiuretin. At the age of 10 years she had started growth hormone (rGH) treatment. After a period of four months of rGH replacement therapy the girl's mother had observed symptoms of excessive daytime sleepiness with a tendency to escalation. MRI of the brain had been performed; no progression has been shown. After 10 months from the start of rGH replacement therapy was referred to the endocrinology department. On the basis of laboratory findings electrolyte and hormonal abnormalities were excluded. On physical examination, the girl manifested massive tonsillar hypertrophy. It was disclosed that she developed obstructive sleep apnea with the drop of oxygen saturation to 60%. The patient was qualified to adenotonsillectomy. There was a spectacular postoperative improvement observed with no future episodes of night apnea and daytime sleepiness. In our opinion, the rGH treatment in our patient induced hypertrophy of the tonsils and adenoid, which led to obstructive sleep apnea syndrome with compensatory daytime sleepiness.Obstructive sleep apnea syndrome with compensatory daytime sleepiness may occur in children on rGH replacement therapy. During rGH therapy children should be regularly examined by a laryngologist.

Background: Diabetic ketoacidosis (DKA) development in children with new-onset type 1 diabetes (T1DM) is often the main consequence of delayed diagnosis. The aim of the study was to estimate the frequency of difficulties in T1DM diagnosis and to investigate if and how the demographic factors (gender, patient's age at presentation, family history of T1DM, level of maternal education, place of residence, and health service unit the patient called at) have any influence on diagnostic delays. Subjects and methods: Retrospective analysis of 474 children (243 boys—51.27% and 231 girls −48.73%) with new-onset T1DM aged below 17 yr and living in the Pomeranian region of Poland was carried out. The delay in diagnosis was recognized if the patient was not diagnosed on the first visit because of omission, wrong interpretation of main diabetic symptoms, exclusive treatment of additional signs, or concomitant diseases. Results: Difficulties in diagnosing T1DM were found in 67 cases (14.13%) and they are the main cause of DKA development in these children (p = 0.00). Among the examined demographic factors, mainly the patient's age at presentation has a significant influence on diagnostic delays (p = 0.01), especially in children below 2 yr (p = 0.00). Most frequently family doctors were responsible for wrong preliminary diagnosis. Conclusions: Difficulties in diagnosing T1DM are a significant cause of DKA development in children with new-onset disease. Patient's age at presentation is the main risk factor of delayed diagnosis, especially in children below 2 yr. The increase in awareness among pediatricians concerning the possibility of T1DM development in children is needed.

Delayed diagnosis is one of the causes of diabetic ketoacidosis (DKA) development in many children with new-onset of type 1 diabetes mellitus (T1DM).of the study was to analyse difficulties in diagnosing T1DM and establish if delayed recognition is the main risk factor of diabetic ketoacidosis (DKA) in children with newly diagnosed T1DM.Retrospective analysis of 335 children with new-onset T1DM, aged below 17 years and living in the Pomeranian region of Poland, was carried out. The delay in diagnosis was recognized if the patient was not diagnosed on the first visit because of omission, wrong interpretation of symptoms, exclusive treatment of additional diabetic signs or concomitant diseases.Difficulties in diagnosing T1DM were found in 54 cases (16.12%). The initial diagnosis was wrongly categorized as respiratory system infection (46.3%), perineal candidiasis (16.6%), gastroenteritis (16.6%), urinary tract infection (11.1%), stomatitis (11.1%), appendicitis (3.7%). Duration of symptoms (mean 14 days) and glycated haemoglobin level did not significantly correspond with diagnostic delay. DKA was significantly more frequent in children with delayed diagnosis - 33 patients (61.11%) (p=0.0005). The infection preceding diagnosis of T1DM, more common among children with delayed recognition, did not affect the duration of symptoms or affect characteristicly more frequent DKA development in children with diagnostic delay.No significant associations between diagnostic delay and duration of diabetic symptoms as well as glycated haemoglobin level exclude possibility of delayed diagnosis because of slow development of diabetic symptoms. Significantly more frequent DKA development in children with delayed recognition, irrespective of infection preceding diagnosis, and no confirmation that younger patient's age predisposes to quick increase of DKA point out that the main risk factor for DKA development in the research group was diagnostic delay.