Mieczysław Szalecki - Academia.edu (original) (raw)

Papers by Mieczysław Szalecki

Nutrients

Patients with type 1 diabetes (T1D) are at higher risk of celiac disease (CD). Recently, intestin... more Patients with type 1 diabetes (T1D) are at higher risk of celiac disease (CD). Recently, intestinal fatty acid binding protein (I-FABP) has been shown to be a serological biomarker of impaired intestinal barrier in CD. Thus, the aim of this study was to verify whether I-FABP could be an early marker of CD in pediatric T1D patients. I-FABP was measured in sera of patients with T1D (n = 156), active CD (n = 38), T1D with active CD (T1D-CD, n= 51), and age-matched healthy children (n = 55). Additionally, I-FABP was determined in T1D patients with negative CD serology at least one year before CD diagnosis (T1D-CD-1, n = 22), in CD patients on a gluten-free diet (CD-GFD, n = 36), and T1D-CD patients on GFD (T1D-CD-GFD, n = 39). Sera were tested using immunoenzymatic assay. Significantly increased levels of I-FABP were found in the T1D, active CD, and T1D-CD groups (1153 ± 665, 1104 ± 916, and 1208 ± 878, respectively) in comparison to healthy with controls (485 ± 416, p < 0.05). GFD i...

Introduction: Craniopharyngiomas are slow growing epithelial tumors located in the sellar or supr... more Introduction: Craniopharyngiomas are slow growing epithelial tumors located in the sellar or suprasellar region of the brain. Adamantinomatous subtype affects mainly children and accounts for 5-10% of all intracranial paediatric tumors. Diagnosed antenatal and neonatal craniopharyngiomas are very seldom, about 40 such cases have been detected to date. They are characterised by large size, progressive hydrocephalus and a poor prognosis.

Endokrynologia Polska, 2020

INTRODUCTION According to recent literature, somatic mutations in the ubiquitin-specific protease... more INTRODUCTION According to recent literature, somatic mutations in the ubiquitin-specific protease 8 (USP8) gene are the most common changes in patients with Cushing's disease (CD). Data on the frequency of these mutations in the pediatric population is limited. The aim of presented study was to determine the frequency of the USP8 gene mutations in a group of pediatric patients with CD treated at the Children's Memorial Health Institute (CMHI). PATIENTS AND METHODS Eighteen patients (9 females) with CD were treated at CMHI, Warsaw, Poland between 1993 and 2019. All patients underwent transsphenoidal surgery (TSS) as a primary treatment for CD and were operated by the same neurosurgeon at CMHI. The average age of all patients at TSS was 13.10 yrs. (5.42-17.25). DNA was extracted from formalin-fixed paraffin embedded resected tumor tissue. Sanger sequencing was performed on DNA sequence corresponding to the exon 14 of USP8 gene. RESULTS The mean age at diagnosis of CD was 13.08...

Diagnostics, 2021

Genotype–phenotype correlation in patients with Prader–Willi syndrome (PWS) has still not been fu... more Genotype–phenotype correlation in patients with Prader–Willi syndrome (PWS) has still not been fully described. We retrospectively analysed data of 147 patients and compared groups according to genetic diagnosis: paternal deletion of chromosome 15q11-q13 (DEL 15, n = 81), maternal uniparental disomy (UPD 15, n = 10), excluded DEL 15 (UPD 15 or imprinting centre defect, UPD/ID, n = 30). Group DEL 15 had an earlier genetic diagnosis and recombinant human growth hormone (rhGH) start (p = 0.00), with a higher insulin-like growth factor 1 (IGF1) level compared to group UPD/ID (p = 0.04). Among perinatal characteristics, there was only a tendency towards lower birth weight SDS in group UPD 15 (p = 0.06). We also compared data at rhGH start in relation to genetic diagnosis age—group 1: age ≤9 months, group 2: >9 months ≤ 2 years, group 3: > 2 years. Group 1 had the earliest rhGH start (p = 0.00), with lower body mass index (BMI) SDS (p = 0.00) and a tendency towards a higher IGF1 lev...

A. Bossowski1, H. Borysewicz-Sańczyk1, B. Głowińska-Olszewska1, A. Bossowska2, M. Szalecki3, A. K... more A. Bossowski1, H. Borysewicz-Sańczyk1, B. Głowińska-Olszewska1, A. Bossowska2, M. Szalecki3, A. Kucharska4, E. Petriczko5, M. Walczak5, K. Ziora6, M. Del Pilar Larosa7, S. Chen7, M. Powell7, J. Furmaniak7, B. Rees Smith7. 1 Department of Pediatrics, Endocrinology and Diabetes with a Cardiology Unit, Medical University in Bialystok, Poland 2Division of Cardiology, Internal Affairs and Administration Ministry Hospital in Bialystok. 3Clinic of Endocrinology and Diabetology, Children’s Memorial Health Institute, Warsaw, 4Department of Pediatrics and Endocrinology, Medical University in Warsaw, 5Department of Pediatrics, Endocrinology, Diabetology, Metabolic Diseases and Cardiology of the Developmental Age, Pomeranian Medical University, Szczecin, Poland. 6FIRS Laboratories, RSR Ltd, Parc Ty Glas Llanishen Cardiff, United Kingdom.

Background The incidence of childhood Type-1 diabetes (T1D) varies greatly between populations an... more Background The incidence of childhood Type-1 diabetes (T1D) varies greatly between populations and the estimates and/or predictions of the rates would aid in adequate planning of health care resources. The study’s aim was to assess the incidence of T1D in the paediatric population of eastern and central Poland. Methods In this cohort study covering the period from January 2010 to December 2014 data were collected for children and adolescents below 18 years of age with newly diagnosed T1D, living in eastern and central Poland. A total of 2174 children were included in the analysis. The population estimates were from the Central Statistical Office of Poland. Results Overall, the annual incidence of T1D increased from 12.84/100 000 in 2010 to 18.46/100 000 in 2014 with the incidence rate ratio (IRR) of 1.5 (an increase in the incidence

Objectives Ectopic adrenocorticotropic syndrome (EAS) causes approximately 10–18% of cases of Cus... more Objectives Ectopic adrenocorticotropic syndrome (EAS) causes approximately 10–18% of cases of Cushing’s syndrome (CS) in adults, while in children it occurs much less frequently. Case presentation We report two cases of neuroendocrine tumors (of the thymus and the appendix) in a 12-year-old boy and a 15-year-old girl who presented with the clinical features of CS. Elevated serum cortisol, ACTH, and chromogranin levels were observed in both patients. Diagnoses were made on the basis of a mass in the thymus/appendix region visualized with chest/abdominal CT scan and radiotracer accumulation in scintigraphy in the same areas. Histopathological examinations confirmed the diagnoses of NET. Conclusion EAS is an extremely rare endocrine disorder. However, it should be taken into consideration in the diagnostic process of every case of ACTH-dependent CS.

Septo-optic dysplasia (SOD) is a rare, congenital condition that can be caused by mutations in HE... more Septo-optic dysplasia (SOD) is a rare, congenital condition that can be caused by mutations in HESX1, OTX2, SOX2, SOX3 genes. Symptoms of SOD include: optic nerve hypoplasia, hypopituitarism and midline brain abnormalities such as absence of septum pellucidum and/or corpus callosum. Hypopituitarism in SOD usually manifests as growth hormone deficiency followed by central hypothyroidism as well as deficiency of gonadotropins. Precocious puberty is a rare finding among patients with SOD, though it appeared among 2 of our patients.

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The paper discusses two cases of male infants, who developed a markedly elevated salt wasting syn... more The paper discusses two cases of male infants, who developed a markedly elevated salt wasting syndrome in early infancy, resistant to treatment with mineralocorticoids. Steroid urinary profiles excluded congenital adrenal hyperplasia. However, both patients presented with extremely high excretion of aldosterone metabolite THAldo without effects of aldosterone action, what resulted in pseudohypoaldosteronism (PHA) diagnosis. The patients were treated with sodium supplementation, which normalized their clinical state and serum electrolytes. In the first patient the sporadic form of renal PHA1 is suspected. In the second patient congenital urinary tract anomalies and infection resulted in transient PHA1. Pseudohypoaldosteronism should be considered in the differential diagnosis of a salt wasting syndrome in infants, especially when it is accompanied by infections or congenital defects of the urinary tract.

Hormone Research in Paediatrics

Background/Aims: Diagnosis of growth hormone deficiency (GHD) in children requires the use of pro... more Background/Aims: Diagnosis of growth hormone deficiency (GHD) in children requires the use of provocative growth hormone (GH) stimulation tests, which can have limited reliability and are potentially contraindicated in some patients. This is the first paediatric study to test the safety, tolerability, and pharmacokinetics (PK)/pharmacodynamics (PD) of macimorelin, an oral GH secretagogue, approved for diagnosis of adult GHD. Methods: In this open-label, group comparison, single-dose escalation trial (EudraCT 2018-001988-23), sequential cohorts of patients (C1–C3) received ascending single doses of macimorelin: 0.25 (C1), 0.5 (C2), and 1.0 (C3) mg/kg. Primary endpoints were safety and tolerability, and secondary endpoints were PK/PD. Results: Twenty-four patients aged between 2 and <18 with suspected GHD participated in the study. No macimorelin-related adverse events were reported, and macimorelin was well tolerated. Plasma macimorelin concentrations increased with dose: mean are...

Frontiers in Endocrinology

BackgroundThis study aims to analyze the diagnostic accuracy of bilateral inferior petrosal sinus... more BackgroundThis study aims to analyze the diagnostic accuracy of bilateral inferior petrosal sinus sampling (BIPSS), the gold standard test for the differential diagnosis of ACTH-dependent Cushing’s syndrome (CS) in a group of pediatric patients with Cushing’s disease (CD).MethodsThis is a retrospective analysis which include 12 patients with hypercortisolemia and inconclusive pituitary MRI, who underwent bilateral inferior petrosal sinus sampling (BIPSS) and transsphenoidal surgery (TSS) from 2004 to 2020 in the Children’s Memorial Health Institute (CMHI) Warsaw, Poland. Pituitary origin of ACTH secretion was considered if baseline central to peripheral (C/P) ACTH level ratio was ≥ 2 or C/P ratio was ≥ 3 after human corticotropin-releasing hormone (hCRH) stimulation. The diagnosis was histologically confirmed in almost all cases after TSS.ResultsThe diagnostic accuracy of BIPSS reached 75% at baseline and 83.3% after CRH stimulation. The compatibility of localization of a microadeno...

Pediatric Endocrinology Diabetes and Metabolism

MELAS syndrome (mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes) is... more 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.

Journal of Personalized Medicine

Sleep-related breathing disorders (SRBDs) can be present in children with simple obesity and with... more Sleep-related breathing disorders (SRBDs) can be present in children with simple obesity and with Prader–Willi syndrome (PWS) and influence an individual diagnostic and treatment approach. We compared frequency and severity of SRBDs in children with simple obesity and with PWS, both without and on recombinant human growth hormone (rhGH) treatment, and correlation of SRBDs with insulin resistance tests. A screening polysomnography-polygraphy (PSG), the oral glucose tolerance test (OGTT) and homeostasis model assessment of insulin resistance (HOMA-IR) were analysed in three groups of patients—with simple obesity (group 1, n = 30, mean age 14.2 years), patients with PWS without the rhGH therapy (group 2, n = 8, mean age 13.0 years) and during the rhGH treatment (group 3, n = 17, mean age 8.9 years). The oxygen desaturation index (ODI) was significantly higher in groups 2 and 3, compared to group 1 (p = 0.00), and hypopnea index (HI) was higher in group 1 (p = 0.03). Apnea–hypopnea inde...

Life

Puberty in children with Prader-Willi syndrome (PWS) is usually delayed and/or incomplete but in ... more Puberty in children with Prader-Willi syndrome (PWS) is usually delayed and/or incomplete but in some patients premature/early adrenarche is observed. We assessed the premature adrenarche (PA) in PWS patients during the recombinant human growth hormone (rhGH) therapy and influence of PA on the course of central puberty (CP), rhGH efficacy and safety, and patients’ metabolic state. Forty-nine PWS patients were treated with rhGH, 11 presented with PA (group 1) and 14 had normal course of adrenarche (group 2). PA was observed in 22.5% of the PWS children treated with rhGH. The mean time between the rhGH start and the adrenarche, the rhGH dose, the growth velocity and the insulin-like growth factor 1 SD (IGF1 SD) during the treatment, as well as the time of CP, final height SD and BMI SD were similar in both groups. There were also no significant differences in the metabolic assessment—the oral glucose tolerance test (OGTT) and lipid profile results. PA may be a part of the clinical pic...

Background: Shwachman-Diamond syndrome (SDS) is a rare genetic, multi-systemic disease characteri... more Background: Shwachman-Diamond syndrome (SDS) is a rare genetic, multi-systemic disease characterized by exocrine pancreatic insufficiency, immune deficiency, bone marrow failure and skeletal abnormalities. Most patients present with failure in somatic development and short stature, but systematic data concerning those features are limited. The aim of the study was to assess the prevalence of failure in somatic development in the children with SDS.Methods: An analysis of anthropometric measurements of 21 patients (14 girls and 7 boys),aged 2 to 17 years (mean age 6.3 years) with SDS diagnosed in The Children’s Memorial Health Institute in Warsaw, Poland was performed. The patients were measured using a Holtain Limited stadiometer, an electronic scale, a Harpenden anthropometer, a metric tape and a spreading caliper. The assessed anthropometric parameters were expressed as standard deviation scores in relation to the reference values in Poland, suitable for sex as well as calendar and...

Mediators of Inflammation

Gene expression profiles of matrix metalloproteinases (MMPs) and their tissue inhibitors (TIMPs) ... more Gene expression profiles of matrix metalloproteinases (MMPs) and their tissue inhibitors (TIMPs) were evaluated in peripheral blood leukocytes of children with nonalcoholic fatty liver disease (NAFLD). Gene expression patterns were correlated with their plasma protein counterparts, systemic parameters of liver injury, and selected markers of inflammation. The MMP-2, MMP-9, MMP-12, MMP-14, TIMP-1, TIMP-2, TGF-β, and IL-6 transcripts levels were tested by the real-time PCR. Plasma concentrations of MMP-9, TIMP-1, MMP-9/TIMP-1 ratio, MMP-2/TIMP-2 ratio, sCD14, leptin, resistin, IL-1 beta, and IL-6 and serum markers of liver injury were estimated by ELISA. The MMP-9, TIMP-2 expression levels, plasma amounts of MMP-9, TIMP-1, and the MMP-9/TIMP-1 ratio were increased in children with NAFLD. Concentrations of AST, ALT, GGT, and leptin were elevated in serum patients with NAFLD, while concentration of other inflammatory or liver injury markers was unchanged. The MMP-2 and MMP-9 levels corr...

Diabetes/Metabolism Research and Reviews

The incidence of childhood type 1 diabetes (T1D) varies greatly between populations, and the esti... more The incidence of childhood type 1 diabetes (T1D) varies greatly between populations, and the estimates and/or predictions of the rates would aid in adequate planning of health care resources. The study's aim was to assess the incidence of T1D in the paediatric population of eastern and central Poland.

Child's Nervous System

Purpose Craniopharyngioma is one of the most frequent benign tumours of the central nervous syste... more Purpose Craniopharyngioma is one of the most frequent benign tumours of the central nervous system in the paediatric population. Although it is a benign tumour according to the WHO classification, it significantly deteriorates the patient's quality of life. The aim of this study is to assess if proliferation index Ki67 can be a useful marker of the risk of craniopharyngioma's recurrence. Methods Expression of Ki67 was examined in 85 specimens of primary craniopharyngioma and in 11 specimens of the recurring tumour. In all the cases, adamantinomatous type of craniopharyngioma was diagnosed. Values of Ki67 expression were compared between patients with and without recurrence, between patients with progression and relapse and between primary and recurrent tumours. Results No statistically significant differences were found between proliferation index Ki67 values in tumours with recurrence and without (median values 2.5% and 3%, respectively, p = 0.69). The median value of proliferation index Ki67 in progression group was 1% and in the relapse group 4%; no statistical significance between those groups was found (p = 0.067). The median value of proliferation index Ki67 in primary tumours was 3% (0-20%) and in recurrent tumours it was 5% (0-14%). Despite the lack of statistical significance (p = 0.61), a tendency towards higher values of Ki67 in recurring tumours in comparison with primary tumours was shown. Conclusions Proliferation index Ki67 is not a reliable prognostic factor of craniopharyngioma's recurrence.

Endokrynologia Polska

Introduction: Primary pigmented nodular adrenocortical disease (PPNAD) is a rare form of ACTH-ind... more Introduction: Primary pigmented nodular adrenocortical disease (PPNAD) is a rare form of ACTH-independent Cushing's syndrome (CS). Half of patients with PPNAD are sporadic cases and the other half familial. Material and methods: We present two patients with PPNAD confirmed by genetic analysis. Results: In both patients there were no abnormal findings on diagnostic imaging of both adrenals and heart. Patients underwent bilateral two-stage adrenalectomy. Histopathological examination confirmed PPNAD. Genetic testing showed the following mutations in the PRKAR1A gene coding for the regulatory subunit type 1A of the protein kinase A enzyme: c.125dupG (patient 1) and c.15dupT (patient 2). Both these defects lead to inactivation of the PRKAR1A protein and are consequently causative of PPNAD in these patients. Conclusions: The novel mutations presented in this article are considered to be pathogenic for PPNAD.