Elevated level of lysophosphatidic acid among patients with HNF1B mutations and its role in RCAD syndrome: a multiomic study.

Introduction: Patients with hepatocyte nuclear factor-1 beta (HNF1B) mutations present a variable phenotype with two main symptoms: maturity onset diabetes of the young (MODY) and polycystic kidney disease (PKD).

Objectives: Identification of serum metabolites specific for HNF1Bmut and evaluation of their role in disease pathogenesis.

Methods: We recruited patients with HNF1Bmut (N = 10), HNF1Amut (N = 10), PKD: non-dialyzed and dialyzed (N = 8 and N = 13); and healthy controls (N = 12).

Immune Dysregulation in Patients With Chromosome 18q Deletions-Searching for Putative Loci for Autoimmunity and Immunodeficiency.

Introduction: Autoimmune disorders, IgA deficiency, and allergies seem to be common among individuals with 18q deletion syndrome [OMIM 601808]. We aimed to determine the prevalence, mechanism, and genetic background of autoimmunity, immune deficiency, and allergy in a cohort of patients with 18q deletions.

Material And Methods: Medical registries and social media were used to recruit the patients.

Subcutaneous immunoglobulin replacement therapy in a patient with 18q deletion syndrome, primary immune deficiency, and type 1 diabetes.

18q deletion syndrome (OMIM #601808) results from a deletion of a part of a long arm of 18 chromosome and is characterized by mental retardation and congenital malformations. We present an exceptional case of a 12-year-old girl with severe phenotype of 18q deletion syndrome, frequent infections, type 1 diabetes, autoimmune thyroiditis, and vitiligo. At first, the patient was diagnosed with selective immunoglobulin A (sIgAD) which explained her susceptibility to both infections and autoimmunity.

Clinical heterogeneity among pediatric patients with autoimmune type 1 diabetes stratified by immunoglobulin deficiency.

Background: Type 1 diabetes (T1D) may coexist with primary immunodeficiencies, indicating a shared genetic background.

Objective: To evaluate the prevalence and clinical characteristics of immunoglobulin deficiency (IgD) among children with T1D.

Methods: Serum samples and medical history questionnaires were obtained during routine visits from T1D patients aged 4-18 years.

Broad phenotypic spectrum of germ line 7p12.1 microdeletions encompassing the IKZF1 gene includes predisposition to acute lymphoblastic leukemia.

Microdeletions of 7p12.1 encompassing the IKZF1 gene locus are rare, with few cases reported. The common phenotype includes intellectual disability, overgrowth, and facial dysmorphism accompanied, albeit rarely, by congenital anomalies.

HLA-A gene variation modulates residual function of the pancreatic β-cells in children with type 1 diabetes.

Aim Of The Study: The study aimed to analyze an association between the HLA-A gene variation and a risk of type 1 diabetes development and to evaluate the association of HLA class I and class II alleles with β-cell destruction.

Material And Methods: A group of 108 children with type 1 diabetes were genotyped in HLA-A, -DRB1, and -DQB1 genes using hybridization with oligonu-cleotides probes. Plasma C-peptide concentration was assessed by radioimmunoassay method.

A cross-sectional study of patients referred for HNF1B-MODY genetic testing due to cystic kidneys and diabetes.

Background/objectives: Patients referred for HNF1B testing present very heterogeneous phenotypes. Despite suggestive characteristics, many do not harbor mutations in HNF1B. Our objective was to evaluate the clinical characteristics of probands referred for HNF1B genetic testing through a nationwide monogenic diabetes screening program.

Achieving target levels for vascular risk parameters in Polish school-age children with type 1 diabetes - a single center study.

Background Therapeutic goals have been established to decrease the risk of long-term complications of type 1 diabetes (T1DM). The effects of these guidelines should be constantly evaluated. Hence, the present study examines the frequency at which children with T1DM treated by one of the Polish reference centers complied with the therapeutic targets issued in 2014 by the International Society for Pediatric and Adolescent Diabetes (ISPAD) and by the Diabetes Poland (PTD).

Coexisting psoriasis affects the clinical course of type 1 diabetes in children.

Introduction: Literature reports link psoriasis with insulin resistance characteristic for type 2 diabetes. However, this condition may also affect the clinical course of type 1 diabetes (T1D).

Aim: To investigate whether children with type 1 diabetes mellitus (T1D) and psoriasis have a different course of diabetes.

Alcohol and cigarette use among adolescents with type 1 diabetes.

Unlabelled: In this study, we compare the prevalence of alcohol and cigarette use among Polish adolescents with type 1 diabetes mellitus (T1DM) (n = 209), aged 15-18 years, with that of a large cohort of their healthy peers, using standardized questionnaire used in the European School Survey Project on Alcohol and Drugs (ESPAD). The lifetime, previous year, and past 30-day prevalence of alcohol consumption was high among adolescents with T1DM but lower than in the controls (82.8 vs 92.

Breaking the Taboo: Illicit Drug Use among Adolescents with Type 1 Diabetes Mellitus.

Background: The aim of the study was to explore the prevalence of illicit drug use in a group of Polish adolescents with type 1 diabetes (DM1) in comparison with a national cohort of their healthy peers.

Methods: Two hundred and nine adolescents with DM1, aged 15-18 years, were studied in 2013 with an anonymous questionnaire prepared for the European School Survey Project on Alcohol and Other Drugs (ESPAD). The control group was a representative sample of 12114 students at the same age who took part in ESPAD in 2011.

Alkaptonuria in a boy with type 1 diabetes mellitus, vitiligo, autoimmune thyroiditis and immunoglobulin A deficiency - a case report.

We present a 15-year-old Caucasian boy with an exceptional coincidence of a rare monogenic metabolic disease - alkaptonuria (AKU) and a cluster of autoimmune disorders: type 1 diabetes (T1DM), autoimmune thyroiditis (AIT), vitiligo, insulin infusion induced lipoatrophy and immunoglobulin A deficiency (IgAD) Alkaptonuria and type 1 diabetes in a child, especially in such an interesting coincidence with other autoimmune conditions, has not been reported so far. Our investigation, including comprehensive genetic evaluation using next generation sequencing technology, shows that alkaptonuria and T1DM were independently inherited. We also show that alkaptonuria in its pre-ochronotic phase seems to have no effect on the course of diabetes.

Atypical phenotypic features among carriers of a novel Q248X nonsense mutation in the HNF1B gene.

Introduction: Hepatocyte transforming factor 1B-maturity onset diabetes mellitus of the young (HNF1B-MODY) is an autosomal dominant type of monogenic diabetes caused by a mutation in the gene encoding hepatocyte nuclear factor 1beta (HNF-1beta). The aim of this study was to determine if a HNF1B gene mutation was responsible for a dominantly inherited form of diabetes mellitus among the members of a three-generation Polish family.

Material And Methods: The index subject was a 13-year-old boy with metabolic syndrome, spina bifida occulta, posterior urethral valves, congenital ureteropelvic junction obstruction, and a family history of diabetes of autosomal dominant trait of inheritance.

Chromosome 18q deletion syndrome with autoimmune diabetes mellitus: putative genomic loci for autoimmunity and immunodeficiency.

A girl with 18q deletion syndrome was diagnosed with autoimmune diabetes mellitus and Hashimoto's thyroiditis at the age of 3 yr. In addition, the girl suffered from recurrent infections due to immunoglobulin A and IgG4 deficiency. She was also found to have CD3+CD4+FoxP3+, CD3+CD4+FoxP3+CD25+, and CD3+CD4+CD25+CD127 regulatory T cells deficiency.

Factor XIII deficiency in Henoch-Schönlein purpura - report on two cases and literature review.

Factor XIII (FXIII) deficiency is a rare, inherited or acquired coagulation disorder that potentially precipitates fatal haemorrhage. We report two consecutive pediatric patients with Henoch-Schönlein purpura (HSP) and symptomatic decrease in FXIII. The possible FXIII deficiency should be kept in mind by every doctor taking care of patients with HSP, in spite of normal value of routine coagulation tests.

Is there any association between secretory IgA and lactoferrin concentration in mature human milk and food allergy in breastfed children.

Background: Breastfeeding is recommended as a protective method against the development of allergy. However, some studies have reported an increased risk of allergies development in breastfed infants of atopic mothers, which implies that atopic mothers may have an altered composition of breast milk.

Aim: The aim of the study was to determine the concentration of secretory immunoglobulin A (S-IgA) and lactoferrin in human mature milk and to evaluate the association between the levels of these proteins in breast milk with food allergy in children, depending on the allergy status of the breastfeeding mother.

[Can the concentration of immunomodulating factors in mature breastmilk be associated with food allergy in breastfed children?].

Objectives: The aim of the study was to determine the concentration of such immunomodulating factors as transforming growth factor beta1 (TGF-β1), interleukin 10 (IL-10), tumor necrosis factor alpha (TNF-α) in mature human milk and to relate the levels of the above mentioned cytokines in mature breast milk to the occurence of food allergy in children during the first 24 months of life.

Materials And Methods: Data on breastfeeding, symptoms of food allergy in children and breast milk samples were collected prospectively from birth to 24 months of age from 84 mothers participating in the Polish birth cohort of "EuroPrevall" study, in the years 2005-2007. Cytokine levels were measured in the whey with commercial enzyme-linked immunosorbent assays (ELISA) kits.

Breastfeeding in primary prevention of atopic diseases - is it really protective?

The role of human milk in the development of allergic sensitization remains controversial, especially in view of the difficulty to perform randomized clinical trials as well as methodological differences in the existing data. The incapability of human milk to prevent from allergic phenotype may be ascribed to genetic predisposition, environmental factors and also to differences in the immune contents of human milk, resulting in a lack of oral tolerance development. This article presents controversial results of recently published studies and current recommendations regarding the role of breastfeeding in allergy prevention.

Unequal contribution of familial factors to autoimmunity and clinical course of childhood diabetes.

Introduction: collection of family history of diabetes mellitus (DM) is commonly performed when this illness is diagnosed in children. However the significance of gleaned information may differ depending on the affected family members.

Aim Of The Study: this study was performed in order to describe detailed familial history of DM in patients and to evaluate the impact of it on the natural course of childhood DM.

Non-coding glucometers among pediatric patients with diabetes: looking for the target population and an accuracy evaluation of no-coding personal glucometer.

Introduction: Self-monitoring of blood glucose (SMBG) is one of the cornerstones of diabetes management.

Aim Of The Study: To evaluate the potential for miscoding of a personal glucometer, to define a target population among pediatric patients with diabetes for a non-coding glucometer and the accuracy of the Contour TS non-coding system.

Material And Methods: Potential for miscoding during self-monitoring of blood glucose was evaluated by means of an anonymous questionnaire, with worst and best case scenarios evaluated depending on the responses pattern.

[Optimization of monogenic diabetes screening programme--initial report on recruitment efficacy of the TEAM project].

Introduction: Due to the lack of precise diagnostic criteria, current search strategy for monogenic diabetes is predominantly based on atypical clinical course of diabetes and intuition of the attending physician. Yet another issue is the common view that monogenic diabetes is rare. It discourages from performing deepened diagnostics and makes it difficult to gain experience necessary to select appropriate patients for genetic examination.