Postiniciálna remisia je obdobie, ktoré sa vyskytuje krátko po začatí liečby diabetes mellitus 1. typu (DM1) a charakterizuje ho prechodné zlepšenie reziduálnej sekrécie endogénneho inzulínu sprevádzané zníženou potrebou exogénneho inzulínu a dobrou glykemickou kompenzáciou ochorenia. Remisia sa vyskytuje u viac ako 1⁄3 detí s novodiagnostikovaným DM1, pričom vo väčšine prípadov ide o parciálnu remisiu so znížením dennej dávky inzulínu < 0,5 IU/kg/deň; kompletná remisia s dočasným prerušením liečby inzulínom je zriedkavá. Rozvoj a dĺžku remisie ovplyvňuje viacero faktorov – spomedzi známych faktorov ide najmä o vek a o včasnosť diagnostikovania DM1, kedy nebýva ešte rozvinutá diabetická ketoacidóza a je lepšia reziduálna sekrečná kapacita zostávajúcich β-buniek produkujúcich inzulín. V našom prehľadovom článku detailnejšie diskutujeme faktory ovplyvňujúce remisiu ako aj snahu ovplyvniť rozvoj a dĺžku trvania postiniciálnej remisie farmakologicky alebo novými technológiami.
Post-initial remission is a period that occurs shortly after the initiation of treatment for type 1 diabetes mellitus (T1D) and is characterized by a transient improvement in residual endogenous insulin secretion accompanied by a reduced need for exogenous insulin and good glycemic control. Remission occurs in more than 1⁄3 of children with newly diagnosed T1D, and most cases are partial remission with a reduction in daily insulin dose < 0.5 IU/kg/day; complete remission with temporary discontinuation of insulin therapy is rare. Several factors influence the development and length of remission - known factors include age and early diagnosis of T1D, when diabetic ketoacidosis is not yet developed and the residual secretory capacity of the remaining β-cells secreting insulin is better. In our review article, we discuss in more detail the factors influencing remission as well as efforts to influence the development and duration of post-initial remission pharmacologically or with new technologies.
Úvod: Operácie štítnej žľazy (ŠŽ) u detí patria medzi zriedkavé operačné výkony. Cieľom našej práce je poukázať na špecifiká chirurgie štítnej žľazy u detí. Metóda: Retrospektívna analýza pacientov hospitalizovaných na Klinike detskej chirurgie LFUK a NÚDCH Bratislava za 10 ročné obdobie (2007–2016), ktorí boli operovaní pre ochorenia štítnej žľazy. Výsledky: V retrospektívnej analýze bolo zaradených 81 pacientov: 66 (81 %) dievčat a 15 (19 %) chlapcov. Priemerný vek pacientov bol 14 rokov ±8 mesiacov (rozsah 4–18 rokov). Najčastejšou indikáciou na operáciu štítnej žľazy bol uzol u 36 (44,4 %) pacientov, Graves Basedowova tyreotoxikóza u 19 (23,5 %) pacientov a suspektný karcinóm štítnej žľazy u 11 (13,6 %) pacientov. Metastázy (mts) v krčných lymfatických uzlinách boli diagnostikované u 9 (11,1 %) pacientov, vzdialené pľúcne mts u 5 (6,17 %) pacientov. Totálna tyroidektómia (TTE) bola vykonaná u 43 (53 %) pacientov, totálna lobektómia (TL) u 20 (24,7 %) pacientov. Rozšírený výkon na regionálnych lymfatických uzlinách bol robený u 9 (11,1 %) pacientov. Reoperáciu postúpili 8 (9,9 %) pacienti. Celkovo u 12 (14,8 %) pacientov sa vyskytli pooperačné komplikácie. Jednostranná prechodná paréza nervus laryngeus recurrens (NLR) sa vyskytla u 2 pacientov, trvalá paréza NLR bola u jedného pacienta. Prechodná pooperačná hypoparatyreóza s hypokalcémiou bola zaznamenaná u 8 (9,9 %) pacientov, trvalú sme nezaznamenali. Záver: Multidisciplinárna spolupráca prináša pacientom optimálne chirurgické výsledky. Kľúčovou zostáva skúsenosť chirurga vykonávajúceho operácie štítnej žľazy u detí.
Introduction: Thyroid surgery in children is a rare operation. The aim of our paper is to point out the specifics of thyroid surgery in children. Methods: Retrospective analysis of patients hospitalized at the Department of Paediatric Surgery, Faculty of Medicine, Comenius University and National Institute of Children's Diseases in Bratislava during a 10-year period (2007−2016) who underwent thyroid surgeries. Results: The retrospective analysis included 81 patients: 66 (81%) girls and 15 (19%) boys. The mean age of the patients was 14 years ±8 months (range 4−18 years). The most common indications for thyroid surgery were: a nodule in 36 (44.4%) patients, Graves Basedow thyrotoxicosis in 19 (23.5%) patients, and suspected thyroid carcinoma in 11 (13.6%) patients. Cervical lymph node metastases (mts) were diagnosed in 9 (11.1%) patients, and distant pulmonary metastases in 5 (6.17%) patients. Total thyroidectomy (TTE) was performed in 43 (53%) patients, total lobectomy (TL) in 20 (24.7%) patients. Extended surgery on regional lymph nodes was performed in 9 (11.1%) patients. Eight (9.9%) patients underwent reoperation. A total of 12 (14.8%) patients experienced postoperative complications. Unilateral transient recurrent laryngeal nerve (RLN) paralysis occurred in 2 patients, and permanent in one patient. Transient postoperative hypoparathyroidism with hypocalcaemia was reported in 8 (9.9%) patients; no permanent condition of this type was observed. Conclusion: Multidisciplinary collaboration ensures that optimal surgical results are achieved in the patients. Experience of the surgeon performing thyroid surgery in children remains crucial.
- MeSH
- dítě MeSH
- lidé MeSH
- mladiství MeSH
- nádory štítné žlázy * chirurgie diagnóza MeSH
- nemoci štítné žlázy * chirurgie diagnóza MeSH
- pooperační komplikace MeSH
- předškolní dítě MeSH
- retrospektivní studie MeSH
- tyreoidektomie MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mladiství MeSH
- mužské pohlaví MeSH
- předškolní dítě MeSH
- ženské pohlaví MeSH
- Publikační typ
- abstrakt z konference MeSH
Heterozygous inactivating mutations of the glucokinase (GCK) gene are causing GCK-MODY, one of the most common forms of the Maturity Onset Diabetes of the Young (MODY). GCK-MODY is characterized by fasting hyperglycemia without apparent worsening with aging and low risk for chronic vascular complications. Despite the mild clinical course, GCK-MODY could be misdiagnosed as type 1 or type 2 diabetes. In the diagnostic process, the clinical suspicion is often based on the clinical diagnostic criteria for GCK-MODY and should be confirmed by DNA analysis. However, there are several issues in the clinical and also in genetic part that could complicate the diagnostic process. Most of the people with GCK-MODY do not require any pharmacotherapy. The exception are pregnant women with a fetus which did not inherit GCK mutation from the mother. Such a child has accelerated growth, and has increased risk for diabetic foetopathy. In this situation the mother should be treated with substitutional doses of insulin. Therefore, distinguishing GCK-MODY from gestational diabetes in pregnancy is very important. For this purpose, special clinical diagnostic criteria for clinical identification of GCK-MODY in pregnancy are used. This review updates information on GCK-MODY and discusses several currently not solved problems in the clinical diagnostic process, genetics, and treatment of this type of monogenic diabetes.
- MeSH
- diabetes mellitus 2. typu enzymologie genetika patologie MeSH
- glukokinasa genetika metabolismus MeSH
- heterozygot MeSH
- hyperglykemie enzymologie genetika patologie MeSH
- lidé MeSH
- mutace * MeSH
- těhotenství MeSH
- Check Tag
- lidé MeSH
- těhotenství MeSH
- ženské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- přehledy MeSH
MEHMO syndrome is a rare X-linked syndrome characterized by Mental retardation, Epilepsy, Hypogenitalism, Microcephaly, and Obesity associated with the defect of protein synthesis caused by the EIF2S3 gene mutations. We hypothesized that the defect in protein synthesis could have an impact on the immune system. We describe immunologic phenotype and possible treatment outcomes in patient with MEHMO syndrome carrying a frame-shift mutation (I465fs) in the EIF2S3 gene. The proband (currently 9-year-old boy) had normal IgG and IgM levels, but had frequent respiratory and urinary tract infections. On subcutaneous immunoglobulin therapy achieving supra-physiological IgG levels the frequency of infections significantly decreased in Poisson regression by 54.5 % (CI 33.2-89.7, p=0.017). The MEHMO patient had had frequent acute infections despite normal IgG and IgM serum levels and responded well to the immunoglobulin treatment.
- MeSH
- dítě MeSH
- epilepsie farmakoterapie genetika imunologie patologie MeSH
- eukaryotický iniciační faktor 2 genetika MeSH
- fenotyp MeSH
- hypogonadismus farmakoterapie genetika imunologie patologie MeSH
- lidé MeSH
- mentální retardace vázaná na chromozom X farmakoterapie genetika imunologie patologie MeSH
- mikrocefalie farmakoterapie genetika imunologie patologie MeSH
- mutace * MeSH
- obezita farmakoterapie genetika imunologie patologie MeSH
- pohlavní orgány abnormality imunologie patologie MeSH
- výsledek terapie MeSH
- Check Tag
- dítě MeSH
- lidé MeSH
- mužské pohlaví MeSH
- Publikační typ
- časopisecké články MeSH
- kazuistiky MeSH
- Publikační typ
- abstrakt z konference MeSH
- Publikační typ
- abstrakt z konference MeSH
- Publikační typ
- abstrakt z konference MeSH
- Publikační typ
- abstrakt z konference MeSH
Recently, the genetic cause of several syndromic forms of glycemia dysregulation has been described. One of them, MEHMO syndrome, is a rare X-linked syndrome recently linked to the EIF2S3 gene mutations. MEHMO is characterized by Mental retardation, Epilepsy, Hypogonadism/hypogenitalism, Microcephaly, and Obesity. Moreover, patients with MEHMO had also diabetes and endocrine phenotype, but detailed information is missing. We aimed to provide more details on the endocrine phenotype in two previously reported male probands with MEHMO carrying a frame-shift mutation (I465fs) in the EIF2S3 gene. Both probands had a neonatal hypoglycemia, early onset insulin-dependent diabetes, and hypopituitarism due to dysregulation and gradual decline of peptide hormone secretion. Based on the clinical course in our two probands and also in previously published patients, neonatal hypoglycemia followed by early-onset diabetes and hypopituitarism may be a consistent part of the MEHMO phenotype.
- MeSH
- diabetes mellitus 1. typu vrozené genetika MeSH
- endokrinní žlázy metabolismus MeSH
- epilepsie genetika MeSH
- eukaryotický iniciační faktor 2 genetika MeSH
- fenotyp MeSH
- hypoglykemie vrozené genetika MeSH
- hypogonadismus genetika MeSH
- hypopituitarismus vrozené genetika MeSH
- lidé MeSH
- mentální retardace vázaná na chromozom X genetika MeSH
- mikrocefalie genetika MeSH
- novorozenec MeSH
- obezita genetika MeSH
- pohlavní orgány abnormality MeSH
- posunová mutace MeSH
- transkripční faktory MeSH
- Check Tag
- lidé MeSH
- mužské pohlaví MeSH
- novorozenec MeSH
- Publikační typ
- časopisecké články MeSH
