Parasomnija je poremećaj spavanja s visokom prevalencijom u općoj populaciji. Bez obzira na to što je parasomnija većinom benigne naravi, najčešće predstavlja vrlo neugodan i nepoželjan fenomen u ...spavanju u djece i odraslih, snižava kvalitetu života, a može biti krivo protumačena i liječena kao epilepsija. Diferencijalna dijagnostika je posebice izazovna u osoba s napadajima s predominantnim kompleksnim motoričkim ponašanjem koji nastaju tijekom hipermotorne epilepsije s noćnim napadajima, kada može dovesti do nepotrebnih i skupih pretraga te neuspješnog liječenja. Koegzistencija parasomnije i epilepsije u istoj obitelji i/ili u iste osobe upućuje na zajedničke neurofiziološke temelje. U ovom preglednom radu opisane su kliničke i neurofiziološke osobitosti najčešćih parasomnija, genetske osnove te pouzdani elementi u diferencijalnoj dijagnostici parasomnija i noćnih epileptičkih napadaja. Prikazana je dijagnostička vrijednost anamnestičkih podataka, video EEG polisomnografije i dijagnostičkih skala. U djece s epilepsijom i parasomnijama, pogotovo u djece koja imaju noćne napadaje, ne smije se zanemariti postojanje dnevne pospanosti i poteškoća spavanja. Svaku osobu s epilepsijom
i s dnevnom pospanošću ili sumnjom i na neepileptogene noćne događaje treba poslati na cjelonoćnu polisomnografiju. Liječenje komorbiditeta koji pogoršavanju spavanje u osoba s epilepsijom i kronofarmakologija epilepsije osiguravaju bolji uspjeh liječenja epilepsije. Pravovremeno prepoznavanje postojanja parasomnije omogućava pravilnu procjenu njezinoga zdravstvenog značenja za osobu i utjecaja na kvalitetu života. Uvođenje medicine spavanja u kurikulume diplomskog i poslijediplomskog obrazovanja omogućava adekvatno obrazovanje zdravstvenih radnika i stjecanje potrebnih vještina za rad u specijaliziranim laboratorijima i odjelima za
poremećaje spavanja.
PCGF2 encodes the polycomb group ring finger 2 protein, a transcriptional repressor involved in cell proliferation, differentiation, and embryogenesis. PCGF2 is a component of the polycomb repressive ...complex 1 (PRC1), a multiprotein complex which controls gene silencing through histone modification and chromatin remodelling. We report the phenotypic characterization of 13 patients (11 unrelated individuals and a pair of monozygotic twins) with missense mutations in PCGF2. All the mutations affected the same highly conserved proline in PCGF2 and were de novo, excepting maternal mosaicism in one. The patients demonstrated a recognizable facial gestalt, intellectual disability, feeding problems, impaired growth, and a range of brain, cardiovascular, and skeletal abnormalities. Computer structural modeling suggests the substitutions alter an N-terminal loop of PCGF2 critical for histone biding. Mutant PCGF2 may have dominant-negative effects, sequestering PRC1 components into complexes that lack the ability to interact efficiently with histones. These findings demonstrate the important role of PCGF2 in human development and confirm that heterozygous substitutions of the Pro65 residue of PCGF2 cause a recognizable syndrome characterized by distinctive craniofacial, neurological, cardiovascular, and skeletal features.
Primjena antiepileptičkih lijekova pri liječenju epilepsije u djece i adolescenata, a osobito donošenje odluke o započinjanju farmakoterapije mogu biti zahtjevni i složeni s obzirom na različite ...farmakoterapijske mogućnosti. Antiepileptičke lijekove treba propisivati prema generičkom nazivlju pojedinog lijeka, a ne prema farmaceutskom odnosno tvornički zaštićenom imenu. Liječenje epilepsije treba započeti lijekom prvog izbora: izvornim (originalnim) lijekom ili generičkim. U smjernicama za farmakoterapiju epilepsija u djece prikazani su
opća načela farmakološkog liječenja epilepsije i mogućnosti donošenja odluka o farmakološkom liječenju epilepsija i epileptičkih sindroma u Republici Hrvatskoj. U radu je dan i kratak osvrt na najčešće upotrebljavane i najvažnije antiepileptičke lijekove, njihove neželjene učinke i interakcije. Navedeni su i noviji antiepileptički lijekovi koji još nisu na osnovnoj ili dopunskoj listi lijekova u RH, no primjenjuju se pri liječenju epilepsija u djece i učinkoviti su. Lijekovi prvog izbora za napadaje sa žarišnim početkom i žarišne epilepsije jesu okskarbazepin (razina dokaza: klasa 1A (AAN) i GRADE 1B) i karbamazepin (razina dokaza: klasa 1A (AAN) i GRADE 1B). Antiepileptički lijek prvog izbora za epileptičke napadaje s generaliziranim početkom i generalizirane epilepsije, ponajprije u dječaka, jest valproat (razina dokaza: klasa 1A (AAN) i GRADE 1A). Zbog mogućega teratogenog i nepovoljnog učinka na postnatalni razvoj djece izložene in utero valproatima i lijekovima generički srodnima valproatu kao prvi lijek izbora za generaliziranu epilepsiju bolesnicama se preporučuju levetiracetam (razina dokaza: klasa 1B (AAN) i GRADE 1C) i etosuksimid (potonji za apsanse) (razina dokaza: klasa 1A (AAN), GRADE 1B), i to od dojenačke do kraja generativne dobi. Svakako je opravdana primjena valproata u djevojčica kao lijeka izbora pri nedjelotvornosti ili nuspojavama antiepileptičkog lijeka prvog izbora za generalizirane epilepsije i kada trudnoća nije vjerojatna zbog težine bolesti.
Respiratory syncytial virus (RSV) stimulates the production of specific immunoglobulin (Ig) E and IgG4 antibodies as a hallmark of the Th2 immune response. In this paper, we evaluated the occurrence ...of atopic diseases in 10-year-old children who were positive for RSV-specific IgG antibodies during infancy.
The prospective follow-up of 72 children included a physical examination, an International Study of Asthma and Allergies in Childhood (ISAAC) questionnaire and the determination of RSV-specific antibodies and total and allergen-specific IgE.
Children with asthma had their first wheezing episode at a younger age (χ2 8.097, df = 1,
= 0.004). RSV-specific IgG4 levels at year one were positively correlated with atopic dermatitis (AD) (tau_b = 0.211,
= 0.049) and current AD (tau_b = 0.269,
= 0.012); and RSV-specific IgE levels were positively correlated with allergic rhinitis (AR) (tau_b = 0.290,
= 0.012) and current AR (tau_b = 0.260,
= 0.025). Positive RSV-specific IgE at the age of one increased the chances of asthma occurrence by 5.94 (OR = 5.94, 95% CI = 1.05-33.64;
= 0.044) and the chances of AR by more than 15 times (OR = 15.03, 95% CI = 2.08-108.72;
= 0.007). A positive family history of atopy increased the chances of asthma occurrence by 5.49 times (OR = 5.49, 95% CI = 1.01-30.07;
= 0.049), and a longer duration of exclusive breastfeeding lowered that chance (OR = 0.63, 95% CI = 0.45-0.89;
= 0.008). Prenatal smoking increased the chances of AR occurrence by 7.63 times (OR = 7.63, 95% CI = 1.59-36.53;
= 0.011).
RSV-specific IgE and RSV-specific IgG4 antibodies could be risk markers for the development of atopic diseases in children.
Sleep disordered breathing is common in obese people. One of the main characteristics of patients with PWS is excess body weight. In this population study we aimed to investigate the differences in ...sleep disordered breathing (SDB) in overweight and obese children with Prader-Willi syndrome (PWS) and obese children.
27 children previously diagnosed with PWS and 24 obese peers, matched by age and gender were recruited and underwent a 12-channel overnight polysomnography (PSG) with oxygen saturation, snoring and body position recorded. Patient (caregiver) reported data on sleep abnormalities and data on other chronic, perinatal and bihevioural conditions were also collected.
Mean apnoea-hypopnoea index (AHI) was higher in the PWS group than in the control obese children (5.37±7.47 and 1.97±5.35, respectively, p<0.001). REM latency was lower in the PWS group compared to obese controls (89.22 ± 49.92 vs 164.62 ± 91.05, p=0.001). Both the duration of longest apnoeic episodes and the average duration of apnoeic episodes were higher in the PWS group compared to obese controls (21.04 ± 14.78 vs 8.79 ± 5.6, p=0.002 and 12.15 ± 3.13 vs 8.79 ± 5.5, p=0.003, respectively). Total awakeness time and the microarousal index were also higher in the PWS group compared to control obese children (56.59 ± 4.14 vs 29.54 ± 30.67, p=0.002 and 3.45 ± 3.55 vs 2.36 ± 1.49, p=0.046, respectively). Both average and lowest oxygen saturation rates were lower in children with PWS compared to obese controls (96.16 ± 1.55 vs 97.87 ± 2.11, p=0.002 and 84.74 ± 5.67 vs 88.87 ± 4.63, p= 0.007). Slow wave sleep time was also significantly lower in the PWS group compared to obese controls (24.20 ± 7.75 vs 30.07 ± 6.93, p=0.003). Parent/caregiver reported.
SDB was more common in children with PWS, suggesting that the aetiology of SDB in patients with PWS is multifactorial, likely related to the clinical manifestations of the syndrome and cannot be attributed solely to obesity.
Periostin is a matricellular protein upregulated in response to IL-4 and IL-13, that have a role in development of allergic diseases. Previous studies reported that periostin can be a non-invasive ...biomarker of T2-driven inflammatory response in asthma in adults, with inconsistent results in children. None of the studies examined the association of serum periostin levels with asthma symptoms in children who have been infected with respiratory syncytial virus (RSV) in the first two years of life. The aim of this study was to determine the usefulness of serum periostin levels as a potential biomarker for asthma, especially recent asthma symptoms in children.This prospective study observed 72 children from birth. RSV infection was confirmed with positive serum specific RSV Immunoglobulin G (IgG) at one and/or two years of age. Asthma was diagnosed according to International Study of Asthma and Allergies in Childhood (ISAAC) questionnaire at 10 years of age. Fractional exhaled nitric oxide (FeNO), lung function, skin prick test and blood samples for analysis of specific immunoglobulin E (sIgE) on standard pallet of inhalant allergens, total IgE (tIgE) and periostin were provided.At 10 years of age, asthma was diagnosed in 23 (31.9%) of the observed children. In 15 (20.8%) of them who reported asthma symptoms during the last12 months, median serum periostin levels were 40.04 ng/ml. In 57 (79.2%) children who were free of asthma symptoms in the last 12 months, mean serum periostin levels were 30.57 ng/ml. Serum periostin levels correlated significantly with recent asthma symptoms (Kendall’s Tau-B = 0.236, p = 0.016).Serum periostin levels significantly correlated with asthma symptoms during the last 12 months in 10-year-old children who were infected with RSV during their first two years of life. Our preliminary results suggest that serum periostin level may be useful in diagnosing asthma in children, especially those with recent asthma symptoms and history of RSV infection in infancy.
•First analysis of tidal breathing flow-volume curves by sleep stages.•Curves are more similar within individual N3 cycles than in other sleep stages.•Curves are substantially different between ...separate N3 cycles.•Body position changes have lesser impact on the curves than sleep stage changes.
Standard lung function tests are not feasible in young children, but recent studies show that the variability of expiratory tidal breathing flow-volume (TBFV) curves during sleep is a potential indirect marker of lower airway obstruction. However, the neurophysiological sources of the TBFV variability in normal subjects has not been established.
We investigated sleep stages and body position changes as potential sources for the TBFV curve variability. Simultaneous impedance pneumography (IP), polysomnography (PSG) and video recordings were done in 20 children aged 1.4–6.9 years without significant respiratory disorders during sleep.
The early part of expiratory TBFV curves are less variable between cycles of REM than NREM sleep. However, within individual sleep cycles, TBFV curves during N3 are the least variable. The differences in TBFV curve shapes between sleep stages are the main source of overnight variability in TBFV curves and the changes in body position have a lesser impact.
BackgroundImmunoglobulin E (IgE) is best known for its association with allergic diseases. Very low IgE may be a marker for other immunodeficiencies. Deficiency or low IgE is defined with IgE ...concentration lower than 2.5 IU/ml. A majority of studies suggest a prevalence of 1-2.6 %.The clinical significance of an isolated low IgE („selective IgE deficiency’) is unknown and is not currently included in the consensus classification of Primary Immunodeficiency Diseases (PIDD). Low IgE is suggestive of a primary humoral immunodeficiency, like Common variable immunodeficiency (CVID). In recent studies a connection between low serum IgE and low levels of one or more classes of immunoglobulins are found. The children’s group was characterized with a higher prevalence of asthma.Both groups (children and adults) had significantly higher prevalence of chronic sinusitis, otitis media, autoimmune, and oncological diseases than controls. In our case report two cases of very low IgE are presented. Both of them have been followed up from birth.Case presentation: a cohort of 72 children has been followed up from birth up to 10 years of age. In two of them a very low serum IgE was found. Serum IgE was assessed at birth from cord blood, and reassessed at 1, 2 and 10 years of age with specific IgE (sIgE) for standard palette of food and inhalant allergens. At 10 years of age skin prick test, measurement of fractional exhaled nitric oxide (FeNO) and spirometry have been conducted.The girl had an unmeasurable level of IgE in cord blood, and also at 1 and 2 years, and her IgE at 10 years was 2.0 IU/ml. The boy’s IgE in cord blood, and at 1, 2 and 10 years was 0.11, 1.0, 8.2 and 0.1 IU/ml, respectively.They both had symptoms characteristic of asthma and allergic rhinoconjuctivitis throughout their childhood, with negative sIgE at 1, 2 and 10 years of age and no evidence of type I hypersensitivity. Their other immunoglobulin (IgG, IgM, and IgA) levels at 10 years was within reference range for age, and they showed no symptoms suggestive of immunodeficiency or autoimmunity.Conclusion here we report of two cases with selective IgE deficiency in children who had been followed up from birth. Very low serum IgE may serve as a marker of immune dysregulation and autoimmunity, and should trigger appropriate investigation (immunoglobulin quantification). The children will be closely monitored.
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