Life-threatening conditions in a child with Prader-Willi syndrome

Prader-Willi sindrom (PWS) vrlo je rijedak genetički poremećaj. Nastaje zbog nedostatka izražaja očevih gena u regiji 15q11.2-q13. Takav složeni genetički poremećaj remeti funkciju više organski sustava. PWS pogađa jednu osobu na 30 000 ljudi, bez obzira na spol, rasu ili etničku grupu. Lijek za ovaj sindrom još nije pronađen, ali postoji niz načina i lijekova koji mogu poboljšati kvalitetu života kod oboljelih. Sama klinička slika ove bolesti ima niz faza od kojih je prva sniženi tonus mišića već u novorođenačkoj dobi. Zbog toga dolazi do nemogućnosti pravilnog hranjenja i napredovanja te ubrzo nastupa hiperfagija. Upravo zbog prekomjerne debljine uz ovaj sindrom vežu se i mnogobrojne komplikacije. U vrijeme kada je PWS otkriven oboljelo dijete imalo je vrlo male šanse za preživljavanje jer tadašnja oprema i tehnika nije bila razvijena i napredna kao danas. Sada dijagnoza može biti postavljena već u prvome mjesecu života DNA analizom. Posljednjih godina u liječenje je uključen i hormon rasta jer je u većine djece dokazan njegov deficit. Pozitivan učinak terapije HR-om u bolesnika s PWS-om očituje se ubrzanjem rasta, boljom završnom visinom, povećanom količinom i tonusom mišićnog tkiva, većom mišićnom snagom te smanjenim udjelom masnog tkiva. Uz sve, važno je napomenuti niz stanja koja ugrožavaju život djetetu s ovim sindromom. Takva stanja, obrađena u ovom radu, poput prekomjerne debljine, centralne i opstruktivne apneje, hiponatremije, adrenalne krize, šećerne bolesti i hipertermije mogu biti jedan od razloga mnogobrojnih iznenadnih smrti djece oboljele od PWS-a. Od iznimne je važnosti da liječnici budu upoznati s ovim zdravstvenim stanjima koja dodatno ugrožavaju život djeci oboljeloj od PWS-a. Na taj način te uz ranu dijagnostiku i terapiju poboljšava se kvaliteta života i produljuje se životni vijek oboljelih te sprječavaju teške zdravstvene komplikacije.Prader-Willi syndrome (PWS) is a very rare genetic disorder. It is caused by the loss of function of parental genes in a particular region of chromosome 15q11.2-q13. Such a complex genetic condition affects function of many organic systems. Prader-Willi syndrome affects an estimated 1 in 30 000 people worldwide, regardless of their gender, race or ethnic background. Prader–Willi syndrome has no cure yet, but there are ways and medicines that can improve quality of life of persons with PWS. The clinical features of this disorder have a series of phases starting with weak muscle tone (hypotonia) in infancy. This results in feeding difficulties, poor growth, and delayed development, which soon leads to chronic overeating (hyperphagia). The obesity is the reason why this syndrome is related to many difficulties. At the time when PWS was discovered, a child with PWS had small or no chance for survival, since the equipment and technology was not as developed as they are nowadays. Today, the PWS diagnosis can be confirmed as early as in the first month of life using DNA testing (analysis). Lately, growth hormone therapy has been included in treatment of PWS, because the growth hormone deficiency was proved with the majority of children with PWS. One benefit of the growth hormone therapy is a faster growth, better end height, increased quantity and muscle tone, increased strength, and reduction of body fat. Additionally, it is important to pay attention to a number of life-threatening conditions in children with PWS. These conditions, described in this paper, such as obesity, central and obstructive sleep apnea, hyponatremia, adrenal crisis, diabetes, and hyperthermia can be one of the reasons for numerous sudden death cases in children with PWS. It is extremely important for physicians to be familiar with the conditions that additionally threaten the lives of children with PWS. In this way, and with early diagnosis and treatment, the quality of life of persons with PWS is improved, life expectancy is prolonged, and severe health complications are prevented

Life-threatening conditions in a child with Prader-Willi syndrome

Prader-Willi sindrom (PWS) vrlo je rijedak genetički poremećaj. Nastaje zbog nedostatka izražaja očevih gena u regiji 15q11.2-q13. Takav složeni genetički poremećaj remeti funkciju više organski sustava. PWS pogađa jednu osobu na 30 000 ljudi, bez obzira na spol, rasu ili etničku grupu. Lijek za ovaj sindrom još nije pronađen, ali postoji niz načina i lijekova koji mogu poboljšati kvalitetu života kod oboljelih. Sama klinička slika ove bolesti ima niz faza od kojih je prva sniženi tonus mišića već u novorođenačkoj dobi. Zbog toga dolazi do nemogućnosti pravilnog hranjenja i napredovanja te ubrzo nastupa hiperfagija. Upravo zbog prekomjerne debljine uz ovaj sindrom vežu se i mnogobrojne komplikacije. U vrijeme kada je PWS otkriven oboljelo dijete imalo je vrlo male šanse za preživljavanje jer tadašnja oprema i tehnika nije bila razvijena i napredna kao danas. Sada dijagnoza može biti postavljena već u prvome mjesecu života DNA analizom. Posljednjih godina u liječenje je uključen i hormon rasta jer je u većine djece dokazan njegov deficit. Pozitivan učinak terapije HR-om u bolesnika s PWS-om očituje se ubrzanjem rasta, boljom završnom visinom, povećanom količinom i tonusom mišićnog tkiva, većom mišićnom snagom te smanjenim udjelom masnog tkiva. Uz sve, važno je napomenuti niz stanja koja ugrožavaju život djetetu s ovim sindromom. Takva stanja, obrađena u ovom radu, poput prekomjerne debljine, centralne i opstruktivne apneje, hiponatremije, adrenalne krize, šećerne bolesti i hipertermije mogu biti jedan od razloga mnogobrojnih iznenadnih smrti djece oboljele od PWS-a. Od iznimne je važnosti da liječnici budu upoznati s ovim zdravstvenim stanjima koja dodatno ugrožavaju život djeci oboljeloj od PWS-a. Na taj način te uz ranu dijagnostiku i terapiju poboljšava se kvaliteta života i produljuje se životni vijek oboljelih te sprječavaju teške zdravstvene komplikacije.Prader-Willi syndrome (PWS) is a very rare genetic disorder. It is caused by the loss of function of parental genes in a particular region of chromosome 15q11.2-q13. Such a complex genetic condition affects function of many organic systems. Prader-Willi syndrome affects an estimated 1 in 30 000 people worldwide, regardless of their gender, race or ethnic background. Prader–Willi syndrome has no cure yet, but there are ways and medicines that can improve quality of life of persons with PWS. The clinical features of this disorder have a series of phases starting with weak muscle tone (hypotonia) in infancy. This results in feeding difficulties, poor growth, and delayed development, which soon leads to chronic overeating (hyperphagia). The obesity is the reason why this syndrome is related to many difficulties. At the time when PWS was discovered, a child with PWS had small or no chance for survival, since the equipment and technology was not as developed as they are nowadays. Today, the PWS diagnosis can be confirmed as early as in the first month of life using DNA testing (analysis). Lately, growth hormone therapy has been included in treatment of PWS, because the growth hormone deficiency was proved with the majority of children with PWS. One benefit of the growth hormone therapy is a faster growth, better end height, increased quantity and muscle tone, increased strength, and reduction of body fat. Additionally, it is important to pay attention to a number of life-threatening conditions in children with PWS. These conditions, described in this paper, such as obesity, central and obstructive sleep apnea, hyponatremia, adrenal crisis, diabetes, and hyperthermia can be one of the reasons for numerous sudden death cases in children with PWS. It is extremely important for physicians to be familiar with the conditions that additionally threaten the lives of children with PWS. In this way, and with early diagnosis and treatment, the quality of life of persons with PWS is improved, life expectancy is prolonged, and severe health complications are prevented

Izolirani prijelom lopatice s migracijom fragmenta u prsnu šupljinu: prikaz slučaja s pregledom literature

Scapula fractures are very rare, resulting from high-energy trauma and are mostly associated with other fractures of the locomotor system and injuries to the head, chest or abdominal organs. Most often, they are treated conservatively and the indications for surgical treatment are not yet clearly agreed. One of the conditions requiring surgical treatment is a scapula fracture with fragment migration into the thoracic cavity. In this paper, we are presenting an extremely rare, isolated scapula fracture, without injury to other parts of the locomotor system, with an intrathoracic fragment migration that was treated conservatively with an excellent functional outcome.Prijelomi lopatice su vrlo rijetki prijelomi nastali kao posljedica visokoenergetske traume i najčešće su povezani s drugim prijelomima lokomotornog sustava te ozljedama glave, prsišta ili trbušnih organa. Najčešće se liječe konzervativno, a indikacije za operacijsko liječenje još uvijek nisu jasno usuglašene. Jedno od stanja koje zahtijeva operacijsko liječenje je prijelom lopatice s migracijom fragmenata u prsnu šupljinu. U ovom radu prikazujemo izrazito rijedak izolirani prijelom lopatice, bez ozljeda drugih dijelova lokomotornog sustava, s intratorakalnom migracijom ulomka koji je liječen konzervativno s izvrsnim funkcijskim ishodom

Foster Care for Children with Behavior Problems from the Perspective of Experts

Cilj istraživanja je dobivanje uvida u izazove udomiteljstva djece s problemima u ponašanju iz perspektive stručnjaka, kao i prikazivanje njihovih prijedloga za unapređenje udomiteljstva, a sve u svrhu identificiranja smjernica za razvoj specijaliziranog udomiteljstva i zaštite dobrobiti djece s problemima u ponašanju. Podaci su prikupljeni putem polustrukturiranih intervjua (N=7), a kao metoda obrade prikupljenih podataka korištena je analiza tematskog okvira. Rezultati pokazuju da su iz perspektive stručnjaka glavni problemi prakse sustava udomiteljstva u RH prije svega u tome što specijalizirano udomiteljstvo nije zaživjelo, iako postoje zakonske osnove za taj oblik udomiteljstva. Stručnjaci svoja iskustva u području udomiteljstva djece s PUP-om opisuju kroz teme: ograničenja sustava, nestabilnost i negativno iskustvo smještavanja djeteta s PUP-om u udomiteljstvo te čimbenike koji pridonose pozitivnom iskustvu udomiteljstva djeteta s PUP-o. Kao izazove udomiteljstva djece s PUP-om stručnjaci navode nepripremljenost udomitelja na skrb za dijete s PUP-om, poteškoće vezane uz manifestirana ponašanja djeteta, nedovoljnu podršku udomiteljima te okolinske čimbenike rizika za dijete. Prijedlozi stručnjaka za unapređenje udomiteljske skrbi za djecu s PUP-om su pokretanje specijaliziranog udomiteljstva u praksi što podrazumijeva prije svega postavljanje jasnih kriterija za bavljenje specijaliziranim udomiteljstvom, organizaciju sustavne pomoći i podrške za udomitelje, potrebu regrutiranje novih udomitelja i profesionalizaciju udomiteljstva.The goal of the research is to gain insight into the challenges of foster care for children with behavioral problems from the perspective of experts and their suggestions for improving foster care, with the purpose of identifying guidelines for the development of specialized foster care and protect the welfare of children with behavioral problems. Data were collected through semi-structured interviews (N = 7), and as a method of processing the data collected an analysis of the thematic framework was used. Results show that from the perspective of experts the main problems of practice in a system of foster care in Croatia, are that primarily the specialized foster care as such has not happened, although there is a legal basis for this form of foster care to be full in form. Experts their experiences in the field of foster care for children with behavioral disorders describe in the following topics: system limitations, instability and negative experience of placing a child with behavioral disorders in foster care and factors that contribute to the positive experience of foster care of children with behavioral disorders. For the challenges of foster care for children with behavioral disorders experts were pointing lack of preparation of foster parents to care for children with behavioral disorders, difficulties related to the manifest behavior of the child, lack of support for foster parents, and environmental risk factors for children. Suggestions of experts for the improvement of foster care for children with behavioral disorders are launching specialized foster care in practice, which reflects the setting of clear criteria for engaging in specialized foster care, the organization of systematic assistance and support for foster parents, the need to recruit more foster parents and the professionalisation of foster care

PRAGMATIC TRIGGERS OF VERBAL HUMOUR IN BRANISLAV NUŠIĆ’S PLAY THE MINISTER’S WIFE

U radu su predstavljeni rezultati pragmastilističke analize drame Gospođa ministarka (1929) srpskog pisca Branislava Nušića. Riječ je o drami s obilježjima komedije situacije, komedije karaktera i satire, u kojoj su podjednako zastupljeni verbalni i situacijski humor. Analiza je provedena s ciljem utvrđivanja pragmatičkih sredstava i strategija postizanja verbalnog humora zastupljenih u drami, a pri njezinu provođenju korišten je pojmovni aparat preuzet iz suvremenih lingvističkih, prvenstveno pragmatičkih teorija humora zasnovanih na pojmu nekongruentnosti. U prvom dijelu rada predstavljen je teorijski okvir istraživanja, dok je drugi dio posvećen analizi. U njemu su na izabranim primjerima iz drame demonstrirani i analizirani najfrekventniji pragmatički okidači humora, koji su podijeljeni u tri skupine: (1) okidači koji se zasnivaju na izigravanju/kršenju kooperativnog principa, a ostvaruju se prijenosom implicitnih značenja, (2) okidači koji se zasnivaju na izigravanju/kršenju principa uljudnosti, a ostvaruju se posredstvom neuljudnih i lažno uljudnih iskaza, (3) šarolik jezik dramskih likova, koji se ogledava u frekventnoj upotrebi ekspresivnih izraza te upotrebi neprikladnog i neočekivanog jezičnog registra. The paper presents a pragma-stylistic analysis of the play The Minister\u27s Wife (1929) by the Serbian writer Branislav Nušić. This play contains both verbal and situational humour, and shows characteristics of situation comedy, comedy of character and satire. The analysis was carried out with the aim of determining the pragmatic means and strategies for achieving verbal humour in the play. The theoretical apparatus was taken from the contemporary linguistic (primarily pragmatic) theories of humour, which are based on the concept of incongruity. In the first part of the paper, the theoretical framework of the  research is presented, while the second part is devoted to the analysis. The most frequent pragmatic triggers of humour are demonstrated and analysed onselected examples from the play. These triggers are classified into three groups: (1) triggers based on flouting/violating the cooperative principle, which is reflected in the transmission of implicit meanings, (2) triggers based on flouting/violating the principle of politeness, which is reflected in the use of impolite and falsely polite utterances, (3) colourful language of dramatic characters, which is characterized by the frequent use of affective expressions and the use of inappropriate and unexpected register.&nbs

A CROSS-SECTIONAL STUDY OF PSYCHIATRIC COMORBIDITY IN CROATIAN HOMELAND WAR VETERANS WHO WERE HELD AS PRISONERS OF WAR AND ARE AFFECTED BY POSTTRAUMATIC STRESS DISORDER

Background: As a extremely traumatic experience, captivity may cause other mental disorders in addition to posttraumatic stress disorder, which is highly prevalent among ex-prisoners of war, and which often occurs in comorbidity with at least one other mental disorder. This objective of this study is to identify the incidence of comorbid mental disorders in Homeland war veterans exprisoners of war affected by posttraumatic stress disorder, as well as to identify the factors that influenced psychiatric comorbidity. Subjects and methods: The study sample comprised 264 subjects, all of whom were Croatian Homeland War veterans with combat experience in the defence of the Republic of Croatia, and all of whom fulfilled clinical criteria for posttraumatic stress disorder at the time of the study. The subjects were divided into two groups: the experimental group was composed of ex- prisoners of war, and the control group of veterans who had never been prisoners of war. The methods of sociodemographic questionnaire, posttraumatic stress disorder self-report checklist and the Harvard Trauma Questionnaire were used in the study. Psychiatric comorbidity data were retrieved from the subjects’ anamnesis and medical records. Results: The results showed that ex- prisoners of war were exposed to a statistically much higher number of traumatic events, and had a significantly higher total number of psychiatric comorbidities (p<0.01) than the control group. The incidence of acute and transient psychotic disorders, generalized anxiety disorders and psychological and behavioural factors associated with disorders or diseases classified elsewhere was significantly higher among ex- prisoners of war. There was no statistically significant difference in overall posttraumatic stress disorder intensity between the two groups (p<0.05). Conclusions: The results of the study confirm our hypothesis that the incidence of psychiatric comorbidity is higher in exprisoners of war

Verification policies in Croatian medical biochemistry laboratories: a survey of the practice

The aim of this study was to screen practices used in verification procedures for methods/analysers among medical biochemistry laboratories (MBLs) in Croatia. We hypothesized that these procedures differ widely from laboratory to laboratory and wanted to gather specific data on steps used in the verification workflow. In order to obtain data, an online survey was conducted. The survey, divided in two sections, contained 29 questions and statements addressing general characteristics and specific steps of the verification workflow of each individual MBL. The survey was disseminated among managers of all MBLs in Croatia. A total of 108/196 (55%) laboratories participated in the survey. Forty nine MBLs were excluded from the second part of the survey: 14 have not implemented verification procedures, and 35 MBLs due to the absence of answers. The most relevant results of the second part of the survey showed that: 18/59 (0.31) of the responding MBLs have difficulties when defining acceptance criteria, 27/59 (0.46) used the Clinical and Laboratory Standards Institute protocol for precision estimation; the majority of MBLs used a median of 20 samples for method/analyser comparisons and estimated bias using internal quality control samples; reference intervals provided by external sources are mainly adopted; 60% of MBLs do not include linearity verification in their protocol and do not use the national document for the estimation of measurement uncertainty. Heterogeneous verification protocols are routinely utilized across Croatian MBLs which clearly confirms that a national document might help in the harmonization of verification procedures

CHALLENGES OF FOSTER CARE CHILDREN WITH BEHAVIOR DISORDERS FROM THE PERSPECTIVE OF EXPERTS

Cilj istraživanja je dobiti uvid u izazove udomiteljstva djece s problemima u ponašanju iz perspektive stručnjaka. Podaci su prikupljeni putem polustrukturiranih intervjua (N=7). U radu se problematiziraju sami izazovi s kojima se nose postojeći udomitelji djece s PUP-om iz perspektive stručnjaka koji rade s tom djecom te njihova iskustva u području udomiteljstva djece s PUP-om, kao i njihovi prijedlozi za unaprijeđenje specijaliziranog udomiteljstva, a sve u svrhu unapređenja specijaliziranog udomiteljstva i dobrobiti djece s poremećajima u ponašanju. Rezultati pokazuju da su glavni problemi prakse sustava udomiteljstva u RH prije svega što specijalizirano udomiteljstvo kao takvo nije zaživjelo te ne postoje specijalizirani udomitelji koji su specifično educirani za rad s djecom s PUP-om, iako postoje zakonske osnove za taj oblik udomiteljstva. Postojeći udomitelji koji ponekad i imaju na smještaju dijete s PUP-om od istog vrlo brzo odustaju te prekidaju udomiteljstvo, a dijete se seli drugim udomiteljima ili ide na smještaj u neki od domova koji skrbe o djeci s PUP-om. Razlozi odustajanja udomitelja su prije svega njihova nemogućnost da se na adekvatan način nose sa problemima samog djeteta, nedostatak edukacije o poremećajima u ponašanju, nedostatak potrebnih znanja i vještina te vrlo mala podrška od strane države i različitih institucija.The goal of the research is to gain insight into the challenges of foster care for children with behavioral problems from the perspective of experts. Data were collected through semi-structured interviews (N=7). This paper discusses the challenges alone cope existing foster parents of children with behavioral disorders from the perspective of professionals working with these children and their experiences in the field of foster care for children with behavioral disorders, as well as their suggestions for improvement of specialized foster care, with the purpose improving specialized foster care and welfare of children with behavioral disorders. The results show that the main problems the practice of foster care system in Croatia primarily as specialized foster care as such has not happened and there are no specialized foster parents who are specifically trained to work with children with behavioral disorders, although there is no legal basis for this form of foster care. The current foster parents who sometimes have to stay a child with behavioral disorders by the same very quickly give up and drop out foster care and child moved to other foster parents or going to stay in some of the homes that care for children with behavioral disorders. The reasons for giving up foster parents are primarily their inability to adequately deal with the problems of the child, lack of education on behavioral disorders, lack of necessary knowledge and skills and very little support from the state and various institutions

Sāṃkhya and Yoga: Historical development and comparison

Rad se bavi povijesnim razvojem dvaju filozofskih sistema u Indiji: sāṃkhyi i yogi. S obzirom na to da se sāṃkhya i yoga u povijesti indijske filozofije često prikazuju kao jedan sistem, cilj rada je prikazati kako su ti sistemi nastajali i u kojim djelima su prisutni začetci njihovih misli i ideja, te na kraju kako je došlo do njihova izdvajanja u dva zasebna filozofska sistema. U prvom dijelu rada nakon kratkog prikaza indijske filozofije, objašnjen je sam pojam riječi sāṃkhya i njeni rani izvori, potom slijedi prikaz proto-sāṃkhye i razvoj klasičnog sistema sāṃkhye. U drugom dijelu rada prikazan je začetak yoge u sāṃkhya-yogi –razdoblje u kojem je bilo teško odrediti koji filozofski aspekt pripada sāṃkhyi, a koji yogi te sam klasični sistem yoge. Zadnji dio rada predstavlja razradu razlika između ta dva sistema.ABSTRACT: The paper discusses the historical development of two philosophical systems in India: sāṃkhya and yoga. Since sāṃkhya and yoga are often regarded as one system in the history of Indian philosophy, the goal of this paper is to determine how these systems came to be, from which works their ideas and thoughts are sourced, and how they separated into two distinct philosophical systems. The first part of this paper is a short review of Indian philosophy, with explanations of the word sāṃkhya and its early sources, after which we analyze proto-sāṃkhya and the development of the classical sāṃkhya system. The second part presents the origins of yoga in the sāṃkhya-yoga period – when it wa s hard to distinguish which philosophical aspects belonged to sāṃkhya and which to yoga, and the classical yoga system. The last part presents the differences between these two systems