Xeroderma pigmentosum (XP) is a rare genodermatosis predisposing to skin cancers. Autoimmune diseases related to XP are rarely discussed in the literature. Type 1 diabetes (T1D) has been associated ...with other genodermatoses like Cockayne syndrome, but it has never been described in XP. In the present study, we report the rare occurrence of T1D in XP patients. Five XP patients belonging to 4 consanguineous families originating from different regions of Tunisia were investigated. Their ages ranged between 8 and 18 years. All the patients had a severe hypovitaminosis D. All the patients had positive GAD antibody levels, and 4 of them had familial history of other autoimmune diseases. The spectrum of XP was variable in all the patients, with dermatological and neurological symptoms, and the occurrence of some cancers. Various hypotheses have been proposed to explain this association, among of which we cite the role of immunomodulation and down-regulation of ATP-dependent DNA excision repair protein genes, implying that impaired DNA repair may contribute to the development of some autoimmune diseases. Vitamin D3 deficiency secondary to sun protective measures was found in all patients and thus may play a role in increasing T1D risk in these patients.
The article presents the results of research illustrating the use of environmental requirements in the description of the subject-matter of contract for the construction of wastewater infrastructure ...which took place in 2009-2015. Public contracting rarely apply environmental clauses into tender documentation (Korytárová i inni, 2015). The percentage of their use is so small that in the context of the sample, it is difficult to talk about the implementation of sustainable development policies.
Each text — according to the concept of author — represents an organized multi-layer structure (stylistic and linguistic), which is one of the basic elements filing the appropriate forms of ...expression. The problem of this kind of expression of jist content an important semantic-formal factor which fill the overall composition of the text (its general structure and a detailed segmentation, thematic dominant and components of the presented world, sender and recipient, linguistic means of expression). This article discusses the characteristic for early baroque very popular carols Symfonije anielskie semantic types of speech, among which stands out narration (as a form of speech). A dominant position occupies a description, especially in theological carols, whereas narration (as a story) occur in both theological and pastoral songs. In a direct connection with the analysis of the various forms of presentation of jist by the narrator it is also the issue of segmentation of text and a review of procedures to ensure it a cohesion.
A disorder of sex development (DSD) is defined as a congenital condition in which development of chromosomal, gonadal, or anatomical sex is atypical. Swyer syndrome is an example of 46,XY DSD with a ...female phenotype. It usually becomes apparent in adolescence with delayed puberty and amenorrhoea. Spontaneous breast development is very rare. A 15-year-old girl was presented due to primary amenorrhoea with breast development compatible with Tanner stage V. Hormonal tests revealed hypergonadotropic hypogonadism with low level of oestradiol. Pelvic ultrasound and magnetic resonance imaging revealed a small uterus, and no ovaries were found. In the right lower abdomen, a structure of unknown origin was visible. The chromosome analysis revealed a 46,XY karyotype. The patient was qualified for a laparoscopic bilateral gonadectomy. Postoperative histopathological examination revealed gonadoblastoma. We underline the need to consider DSD 46,XY in the presence of primary amenorrhoea, even when pubertal development is present. Germ cell tumors have a tendency to grow and metastasize rapidly. Delayed diagnosis may increase the risk of malignant transformation and cause a poor diagnosis.
MELAS syndrome (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) is a genetically determined disease caused by mutations in mitochondrial DNA. We present a girl who was ...suspected of MELAS syndrome during the diagnostic evaluation of short stature. The patient suffered from symptoms potentially indicating mitochondrial disease, such as muscular weakness, cranial nerve VI palsy, headaches, retinitis pigmentosa, sensory-neural hearing loss, and elevated lactic acid. T2-weighted brain MRI showed hyperintense lesions in the white matter. Muscular biopsy revealed ragged red fibres. Genetic evaluation did not detect the most common mutations in the MT-TL1 gene and MT-ND5 gene. Endocrine tests led to the confirmation of growth hormone deficiency, and so replacement treatment was started. After 1 year of recombinant growth hormone therapy the patient was diagnosed with diabetes. At the age of 14 years the LH-RH test showed prepubertal values. Endocrine disorders may be one of the first manifestations of MELAS syndrome. In differential diagnosis of short stature, less common causes, such as mitochondrial diseases, should be taken into consideration.
Fonološki opis Kršana u Istri Vranić, Silvana
Hrvatski dijalektološki zbornik,
01/2021, Volume:
25, Issue:
25
Journal Article, Paper
Peer reviewed
Open access
U radu se iznose rezultati istraživanja fonološkoga sustava Kršana, govora čepićke skupine rubnoga poddijalekta ikavsko-ekavskoga dijalekta čakavskoga narječja u Istri. Prikazani su inventar, ...realizacija, distribucija i podrijetlo vokala, nevokala i prozodijskih jedinica.
To analyze the clinical features and SLC26A3 mutation of one patient in our hospital who had congenital loss of chlorine diarrhea (CLD), and to investigate the treatment of the disease and the ...prognosis.
By reviewing the literature, analyzing the clinical features and differential diagnosis and investigating the treatment and prognosis, the patient was diagnosed as CLD.
Excessive accumulation of amniotic fluid was observed during pregnancy. The patient was born prematurely with normal body weight. The patient was a 4-month old boy admitted for anorexia, watery diarrhea, electrolyte disorders (hyponatremia, hypokalemia and hypochloremia) and metabolic alkalosis. The patient was also considered to be affected by Batter syndrome. After treating with spironolactone, indomethacin and potassium chloride sustained release tablet, the symptom of watery diarrhea was alleviated, the ingested amount of milk increased gradually and the amount of urine became normal; however, electrolyte imbalance persisted and the frequency of bowel movements remained high. Genetic analysis demonstrated that the patient had a SLC26A3 c.269_270dupAA homozygous mutation in exon 3, leading to a frameshift from 91st amino acid Gly and alteration of the SLC26A3 transmembrane protein sequence, thus resulting in a Cl-/HCO3- exchange barrier. The parents of the patient had normal phenotypes and were all heterozygous carriers of the mutation. Moreover, the patient was diagnosed as CLD. Sodium chloride and potassium chloride rather than spironolactone and indomenthacin were given to the patient to correct the dehydration, so the symptom of watery diarrhea alleviated and the blood gas and electrolyte levels returned to the normal range. In addition, the patients morale was good and the ingested amount of milk was moderate.
Persistent diarrhea and electrolyte disorder in pediatrics are easy to misdiagnose as CLD. Furthermore, it is difficult to identify Batter syndrome, Gitelman syndrome, renal tubular acidosis and CLD. Blood and stool electrolyte detection and SLC26A3 genetic tests are helpful for diagnosis, and sodium chloride and potassium chloride replacement therapy are critical for the patient prognosis.
Cilj. Cilj je rada analizirati sudjelovanje i zadovoljstvo edukacijama za primjenu Pravilnika KAM koje su se održavale od 2018. do 2022. godine u okviru Centra za stalno stručno usavršavanje ...knjižničara u Republici Hrvatskoj (CSSU). Usto rad donosi analizu posjećenosti regionalnih radionica (održanih neovisno o CSSU-u) na temu primjene Pravilnika KAM u organizaciji Radne grupe za edukaciju pri Stalnom odboru za razvoj i održavanje Pravilnika KAM u suradnji sa županijskim matičnim narodnim knjižnicama i Vijećem za matičnu djelatnost Muzejskog dokumentacijskog centra (MDC).
Pristup/metodologija/dizajn. U radu se analiziraju podaci o edukacijama za primjenu Pravilnika KAM: teme, formati, trajanje edukacija, broj polaznika te rezultati evaluacijskih upitnika – zadovoljstvo polaznika edukacijskim sadržajima i predavačima te primjenjivost na radno mjesto.
Rezultati. Na edukacijama o Pravilniku KAM tijekom petogodišnjeg razdoblja sudjelovalo je najviše knjižničara, ali i značajan broj polaznika iz arhiva i muzeja. Održavanjem edukacija online te javnom dostupnošću snimki webinara od 2020. godine omogućena je široka dostupnost edukativnog sadržaja. Polaznici su iskazali izvrsnu razinu zadovoljstva kvalitetom predavača i edukacijskih sadržaja te vrlo dobru razinu zadovoljstva primjenjivošću edukacija na radno mjesto. Održavanjem regionalnih radionica praktična primjena Pravilnika KAM približena je široj stručnoj zajednici.
Ograničenja. Od 2018. do 2020. godine za polaznike iz arhiva i muzeja prilikom prijave nije bila ponuđena opcija odabira navedenih ustanova te je za njih bila predviđena kategorija „Ostalo”. Međutim naknadnom analizom utvrđeno je da se jedan broj takvih polaznika (na temelju samostalnog upisa) nalazi i u kategoriji „Specijalne knjižnice“. Stoga su ti polaznici, za potrebe ovog rada, naknadno izdvojeni u zasebne kategorije prema vrsti ustanove iz koje dolaze.
Praktična primjena. Rezultati rada uzet će se u obzir pri planiranju edukacija CSSU-a u kontekstu bibliografske kontrole i katalogizacije građe te općenito novih edukacijskih aktivnosti za primjenu Pravilnika KAM.
Originalnost/vrijednost. U radu su prikazani trendovi u području stručnog usavršavanja stručnjaka iz knjižnica, arhiva i muzeja o primjeni Pravilnika KAM.
Knjižnica Muzičke akademije Sveučilišta u Zagrebu u svojem fondu čuva osobne fondove reproduktivnih umjetnika, skladatelja, dirigenata, glazbenih pedagoga i povjesničara glazbe. Krajem 2020. započelo ...se s njihovom stručnom obradom, a dosad su u potpunosti obrađena četiri manja fonda: Osobni fond Theo Tabaka, Osobni fond Ivan Pinkava, Osobni fond Petar Dumičić te Osobni fond Zinka Kunc (Milanov). Gradivo iz osobnih fondova iznimno je vrijedno. Stoga je nužno provesti obradu i preostalih fondova kako bi se njihov sadržaj mogao ponuditi korisnicima za potrebe pisanja seminarskih, diplomskih i znanstvenih radova te za istraživanje života i djelatnosti stvaratelja gradiva. Svrha je ovog rada ukazati na značaj i vrijednost osobnih fondova pohranjenih u Knjižnici te donijeti kratak pregled sadržaja onih koji su dosad obrađeni.
Discontinuation of type 1 diabetes (T1DM) treatment (interruption of insulin therapy) rapidly leads to diabetic ketoacidosis (DKA) which is a life-threatening condition. Our case report is intended ...to draw attention to persons with T1DM and significant social/psychological problems. They typically, due to the lack of legal regulations, "fall out of the system", which should provide in such cases additional assistance in care conditioning proper treatment. Psychological an psychiatric disorders and/or social problems may interfere with self-control and diabetes treatment, making it difficult or even impossible. These patients represent a significant challenge for the diabetes team and require individualized management from the social care system. Patient safety-focused support from consulting physicians of other specialties is also essential. The case of our patient highlights the need for relevant legal and administrative regulations that would allow for quick, safe and adequate care.
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