Lowe syndrome: case report Eva Bahor; Rina Rus
Zdravniški vestnik (Ljubljana, Slovenia : 1992),
03/2018, Letnik:
87, Številka:
1-2
Journal Article
Recenzirano
Odprti dostop
Lowe syndrome is a rare X-linked multisystemic disorder, caused by mutation of the OCRL gene which encodes OCRL-1 protein. The disease is characterized by the triad of congenital cataracts, ...intellectual disability, and Fanconi-like proximal renal tubular dysfunction. Lifespan is short due to end-stage renal disease and other earlier complications and it rarely exceeds 40 years. The treatment is symptomatic, aimed at improving the clinical evolution of the patients and postpone the onset of terminal renal disease. The paper describes a case of a boy with Lowe syndrome with a novel genetic mutation.
Akutni bronhiolitis je najpogostejša okužba spodnjih dihal pri otrocih, mlajših od dveh let. Zdravljenje akutnega bronhiolitisa je podporno. Poleg skrbi za primerno hidracijo je dodatek kisika ...otrokom s hipoksemijo praktično edini način zdravljenja teh otrok. Vrednost, ki jo dobimo s pulznim oksimetrom, je le posredna meritev dejanske vrednosti kisika v krvi in ne odrazi resnosti bolezni. Z dodatkom kisika sicer povišamo zasičenost hemoglobina s kisikom in tako zmanjšamo hipoksemijo, ne zdravimo pa osnovnega vzroka za njen nastanek. Kljub vsemu pulzna oksimetrija ostaja odločilna preiskava pri odločitvi glede zdravljenja s kisikom, saj z nobenim kliničnim znakom ne moremo natančno oceniti, ali gre pri otroku za hipoksemijo. Študije so pokazale, da pediatri pri oceni resnosti bolezni vse bolj zaupajo vrednosti zasičenosti kisika v krvi (SpO2) kot pa klinični oceni. Odkar je pulzna oksimetrija v uporabi, se je odstotek hospitaliziranih zaradi akutnega bronhiolitisa zvišal za približno 250 %. Smernice za obravnavo otrok z akutnim bronhiolitisom niso enotne glede vrednosti SpO2, ki zahtevajo zdravljenje s kisikom. V prispevku smo jih kritično ovrednotili in predstavili lastne izkušnje glede zdravljenja akutnega bronhiolitisa s kisikom.
Ishemična možganska kap pri otrocih in mladostnikih Kavčič, Alja; Rener Primec, Zvonka; Perković Benedik, Mirjana ...
Zdravniški vestnik (Ljubljana, Slovenia : 1992),
04/2019, Letnik:
88, Številka:
3-4
Journal Article
Recenzirano
Odprti dostop
Ishemična možganska kap je v pediatrični populaciji redka, vendar predstavlja pomemben vzrok nevrološke oviranosti pri otrocih in mladostnikih. Z razvojem in dostopnostjo nevroradiološke diagnostike ...je danes prepoznava ishemične možganske kapi zgodnejša. Vzroki in dejavniki tveganja za ishemično možgansko kap pri otroku se pomembno razlikujejo od vzrokov pri odraslih, prav tako obstajajo pomembne razlike med neonatalnim in kasnejšimi starostnimi obdobji. Med najpogostejšimi vzroki ishemične možganske kapi v pediatrični populaciji so vaskulopatije, embolije pri prirojenih srčnih napakah in protrombotična stanja. Pogosto je vpletenih več dejavnikov hkrati. Klinična slika možganske kapi pri otroku v akutni fazi ni vedno jasno izražena, zato se diagnoza lahko postavi z zakasnitvijo. Možganska kap pri otroku ne povzroči le izgube določenih možganskih funkcij, temveč vpliva na celostni razvoj otroka.Z namenom zgodnjega prepoznavanja možganske kapi prispevek posebno pozornost namenja opisu različnih kliničnih slik možganske kapi pri otrocih ter dejavnikom tveganja zanjo. Članek podaja tudi trenutne smernice oz. priporočila s področja akutne obravnave in zdravljenja, katerih cilj je zmanjšanje obsega možganske okvare in izboljšanje izida pri otroku. Prispevek obravnava pediatrično ishemično možgansko kap, ki jo opredeljuje starostno obdobje med 28. dnem in 18. letom starosti.
The composition of the human gut microbiota, which can also be regulated by the consumption of probiotics, has a significant impact on host health. The main source of probiotics can be foods such as ...fermented foods, yogurts, fermented drinks and/or probiotic supplements. While parents play a critical role in ensuring the well-being of their children, this cross-sectional study is focused on parents' perspectives regarding the use of probiotics in the preschool period.
The self-administered online survey consisted of 24 questions arranged across two thematic sections. The final data analysis included 102 parents (96% F; 4% M), aged between 22 and 47. Their children were aged up to 6 years.
The majority (52%) of the parents were familiar with the term 'probiotics' and 86.3% were including probiotics in their children's diet at the time of the survey. The main source was probiotic food (36.3%), of which yoghurt was the most commonly consumed (87.2%). The inclusion of probiotic supplements in a child's diet was positively correlated with parents' consumption and level of knowledge about the term 'probiotics'. Digestive tract-related disorders were the most frequently reported motive for the initial introduction of probiotics into children's diet.
Based on our study results, parents are familiar with probiotics and include them in their children's diet. However, an attempt should be made to close the gaps in parents' knowledge that our research identified. Further studies are needed to determine the recommended amount of probiotic foods, as well as strategies to educate parents about the benefits of including probiotic foods in their children's diet.
We report the case of a girl with spinal muscular atrophy (SMA) type 1, who is the first patient with SMA in Slovenia treated with nusinersen, the first disease modifying therapy available for these ...patients. SMA is an autosomal recessive neuromuscular disorder characterized by muscle weakness, atrophy and paralysis due to the degeneration of the anterior horn cells, leading to premature death, most commonly due to respiratory infections. Nusinersen, an antisense oligonucleotide, was clinically approved based on clinical trials showing dramatic improvement in the natural course of infantile-onset SMA. After the genetic confirmation of SMA, our girl was the first child in Slovenia to receive nusinersen, which was provided through an expanded access programme. She received intrathecal applications of nusinersen according to the protocol. No serious adverse events were observed. Assessment of her motor skills was performed using The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP – INTEND) before the beginning of treatment and after completing the first 7 applications of nusinersen. She scored 21/64 points before the introduction of treatment and 32/64 after the completion of treatment. In conclusion, nusinersen improved the CHOP – INTEND motor function score and has been effective in delaying the expected natural course of SMA in our patient.
Avtorica v članku najprej predstavi rezultate mednarodnih primerjalnih raziskav (OECD 2015), ki kažejo, da so učni dosežki otrok priseljencev pomembno nižji od učnih dosežkov njihovih vrstnikov brez ...izkušnje preseljevanja. Na podlagi rezultatov ugotavlja, da je z namenom vzpostavljanja socialno kohezivne in inkluzivne družbe zagotavljanje kakovostnega pedagoškega procesa za otroke priseljencev velik pedagoški izziv. Z raziskavo v slovenskih osnovnih šolah, v katero je vključila 40 osnovnošolskih učencev s priseljensko izkušnjo, je z namenom, da bi se njihova stališča upoštevala pri oblikovanju predloga programa dela v slovenskih šolah in vrtcih, želela spoznati, kaj oni razumejo pod pojmom dobra šola.
The behaviour of parents in ensuring car passenger safety for their children is associated with socio-economic (SE) status of the family; however, the influence of parental education has rarely been ...researched and the findings are contradictory. The aim of the study was to clarify whether parental education influences the use of a child car seat during short rides.
A cross-sectional survey was carried out in outpatient clinics for children's healthcare across Slovenia. 904 parents of 3-year-old children participated in the study; the response rate was 95.9%. A self-administered questionnaire was used. A binary multiple logistic regression was applied to assess the association between parental unsafe behaviour as dependent variable, and education and other SE factors as independent variables.
14.6% of parents did not use a child car seat during short rides. Families where mother had low or college education had higher odds of the non-use of a child car seat than families where mother had a university education. Single-parent families and those who lived in areas with low or medium SE status also had higher odds of the non-use of a child car seat.
Low educational attainment influences parents' behaviour regarding the non-use of a child car seat. Low parental education is not the only risk factor since some highly educated parents also have high odds of unsafe behaviour. All parents should therefore be included in individually tailored safety counselling programmes. SE inequalities could be further reduced with provision of free child car seats for eligible families.
Abstract
Background
Several researches indicate that most child victims delay disclosing of sexual abuse for significant periods of time. There are numerous reasons as to why children are avoiding ...the disclosure of the abuse. The aim of this study was to determine how a mother’s response to a child’s allegations impacts the child’s willingness to disclose sexual abuse.
Methods
We conducted a retrospective quantitative and qualitative analysis of 73 court-referred cases of child sexual abuse which have been disclosed in Slovenia in the last ten years. All the child victims included in the study were female and the perpetrators adult male persons. The expert opinions were made by the same expert.
Results
We realized that, at the occurrence of abuse, the child victims were from 4 to 15 years old and their mean age was at 11. 5 years. About two-thirds of children were victims of the intra-familial type (61.6%) and a little more than one third of extra-familial type of sexual abuse (38.4%). The group of victims with the support of their mothers needed about 9 months to disclose the secret, while the delay of the disclosure in the cases without the support of mothers was much longer (M=6.9 years).
Conclusion
For female child victims of sexual abuse the perceived protective attitude of their mothers is very important. Especially when the sexual abuse happened in the family, the mother’s support can attribute to stop the ongoing abuse, eliminate its immediate effects and decrease its likely negative long-term outcome.
Članek se ukvarja s queerovskim otrokom, nenormativnim otrokom, ki znotraj formulacije otroka kot nedolžnega bitja s predpostavljeno bodočo heteroseksualnostjo po navadi ostaja skrit. Zanima nas, ...kje iskati queerovskega otroka in kako o njem govoriti. Ravno zato, ker je queerovskemu otroku navadno zanikano mesto znotraj formulacij otroštva in se izrekanje queerovstva v sedanjiku (»Sem queerovski otrok.«) le malokrat zgodi, ga iščemo v fikciji z avtobiografskimi elementi, ki queerovstvo otroku pripiše za nazaj. Skozi primere biomitografije Zami: novo črkovanje mojega imena in eksperimentalnega dokumentarca Hide and Seek poskušamo pokazati, kako queerovsko otroštvo odpira potenciale drugačne formulacije želje in rasti, ki jima ne moremo zlahka določiti smeri in izid.
Glede na srednji vek zasledimo v starejši slovenski književnosti v Trubarjevih knjigah kakovosten napredek v pojmovanju otroka in otroštva. Prispevek prinaša pregled te tematike.
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