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.
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.
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.
Fonološki opis Kršana u Istri Vranić, Silvana
Hrvatski dijalektološki zbornik,
01/2021, Letnik:
25, Številka:
25
Journal Article, Paper
Recenzirano
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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.
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.
Wolcott-Rallison syndrome (WRS) is a rare autosomal recessive disorder characterized by neonatal diabetes mellitus (NDM), epiphyseal dysplasia, and hepatic and renal dysfunction. Although ...neuro-psychological features are common in patients with WRS, malformations of cortical development (MCDs) are rarely reported.
A 3-month-old boy, born to non-consanguineous parents, presented with right focal seizures since two months of age and recently detected diabetes mellitus. He also had a small head and lissencephaly-pachygyria spectrum on brain imaging. Genetic testing confirmed the diagnosis of WRS by identifying a biallelic homozygous deletion of exon 1 in the EIF2AK3 gene. The child achieved reasonable glycemic control on the basal-bolus insulin regimen.
Presentation of WRS may occur with neurological manifestations such as lissencephaly-pachygyria spectrum. Early confirmation of the genetic diagnosis of WRS by screening for pathogenic variants in the EIF2AK3 gene is important in children with NDM and associated syndromic features. Establishing the diagnosis of WRS helps in predicting the development of subsequent clinical features, guides management, and may improve patient outcomes.
Ketoacidosis as a primary manifestation of COVID-19 Akbarizadeh, Majidreza; Naderifar, Mahin; Ghanizadegan, Parisa ...
Pediatric endocrinology, diabetes, and metabolism,
2021, Letnik:
27, Številka:
2
Journal Article
Recenzirano
Odprti dostop
Diabetic ketoacidosis is the most important metabolic emergency in children. Children mimic many syndromes with a combination of nonspecific symptoms during the COVID-19 pandemic. Many syndromes are ...triggered by changes in children's body conditions. Reporting specific cases can improve the diagnosis process. The present study reports an 18-month-old paediatric case of COVID-19 who presented ketoacidosis (DKA) symptoms.
The case is an 18-month-old child with fever and diarrhoea from 3 days before, who did not respond to outpatient treatment. On the day of the visit, he suffered from deep and abdominal breathing and decreased level of consciousness and sugar levels at admission of 420 mg/dl. He was then admitted with the initial diagnosis of DKA and had a positive PCR test result for COVID-19.
Considering the non-specific symptoms of COVID-19, general practitioners and paediatricians are recommended that special attention be paid to these symptoms, especially those that are similar to life-threatening syndromes. They also should not easily ignore these symptoms and follow up patients and their recovery status and, if patients do not recover, consider the risk of COVID-19 given the current COVID-19 pandemic.
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