Prevalence of haplotype DQ2/DQ8 and celiac disease in children with type 1 diabetes.

Type 1 diabetes (T1D) and celiac disease (CD) coexist very often. Identification of the human leukocyte antigen (HLA) DQ2/DQ8 can confirm the genetic predisposition to CD. Negative result of this test allows to exclude CD with a high probability. It was suggested that in individuals with higher risk of CD, including T1D patients, the implementation of genetic testing should reduce the number of patients requiring systematic immunological screening. The aim of this study was to analyze the prevalence of different haplotypes predisposing to CD in children and adolescents with previously diagnosed T1D. MATERIAL AND METHODS: A retrospective analysis was performed on 166 T1D children (91 girls) in whom HLA DQ2/DQ8 alleles were tested. In 9.6% CD was also diagnosed. RESULTS: In 12.7% both HLA DQ2/DQ8 were negative. In 87.3% patients HLA DQ2 and/or DQ8 was positive, including 27.7% patients with both haplotypes DQ2.5 and DQ8 positive. In all CD patients the disease predisposing alleles were positive, while none of the HLA DQ2/DQ8 negative children were diagnosed with CD. CONCLUSIONS: The prevalence of HLA DQ2.5 and the HLA DQ2.5 / HLA DQ8 configuration is higher in patients with T1D, and CD compared to children with T1D alone. The combination of HLA DQ2 and HLA DQ8 most significantly increases the risk of developing CD. The group of HLA DQ2/DQ8 negative patients with improbable CD diagnosis, is relatively small. Most of T1D patients HLA DQ2/DQ8 positive need further regular antibody assessment. In patients with T1D, who are at high risk of developing CD, genetic testing may be considered to select those who require further systematic serological evaluation. Due to its retrospective nature, the study was not registered in the database of clinical trials and the Clinical trial registration number is not available.

Selective Forms of Therapy in the Treatment of Inflammatory Bowel Diseases.

Selective interference with the functioning of the immune system consisting of the selective blockade of pro-inflammatory factors is a modern, promising, and developing strategy for the treatment of diseases resulting from dysregulation of the immune system, including inflammatory bowel disease. Inhibition of the TNF alpha pathway, group 12/23 cytokines, and lymphocyte migration is used in the treatment of severe or moderate ulcerative colitis and Crohn's disease. Intracellular signal transduction by influencing the phosphorylation of SAT (signal transducer and activator of transcription) proteins remains in clinical trials.

Kidney Dysfunction and Its Progression in Patients Hospitalized Duo to COVID-19: Contribution to the Clinical Course and Outcomes.

The disease caused by coronavirus SARS-CoV-2 (COVID-19) can affect almost all organs of the human body, including kidneys. We conducted a one-center study to comprehensively analyze the effects of kidney involvement on the course and outcomes in patients hospitalized with COVID-19, depending on the estimated glomerular filtration rate (eGFR) at admission. Out of the 1958 patients, 1342 (68.54%) had eGFR ≥ 60 mL/min/1.73 m2 (group A) and 616 (31.46%) had eGFR < 60 mL/min/1.73 m2 (group B). Group B was additionally divided into subgroups B1, B2, and B3 based on eGFR. We found that mortality rates during hospitalization, as well as after 90 and 180 days, were much higher in group B than group A. The highest mortality was observed in the B2 subgroup with eGFR of 15-29. The mortality of B patients was associated with comorbidities, respiratory dysfunction, immunological impairment, and more frequent development of AKI. AKI had a negative impact on patients' survival, regardless of the initial renal function. At discharge, 7.4% of patients had serum creatinine levels 30% higher, or more, as compared to admission. The disease course and outcomes in COVID-19 patients are associated with baseline eGFR; however, AKI during hospitalization is a more significant predictor of poor prognosis regardless of the initial renal function.

[Ganglioneuroblastoma in a child with chronic abdominal pain - a case report].

Chronic abdominal pain is a very common complaint in the population of children and adolescents. In most cases, the usual cause are functional gastrointestinal disorders. However, in a few percent of children, the reason for persistent chronic stomach pain are organic diseases occurring in the gastrointestinal tract, as well as parenteral diseases, including uro-genital tract abnormalities, inflammation of the lower respiratory tract and cancer processes. Among organic causes, in addition to those commonly encountered, such as: intolerances and food allergies, gastroesophageal reflux disease, chronic gastritis or duodenitis, or urinary tract infections, the diagnosis should also include very rare causes, for example, neoplastic diseases, among them tumors of the abdominal cavity. In the case described in the present article, a 6-year-old girl with chronic abdominal pain, symptoms of gastro-oesophageal reflux and constipation, and previously diagnosed food allergy and lactose intolerance, was referred for widening the diagnosics due to the occurrence of alarm symptoms. The nodule revealed in the chest X-ray, in CT scan, turned out to be a paravertebral tumor with the specific features of neuroblastoma. After a macroscopically complete tumor resection based on the result of histopathological examination, the diagnosis of ganglineuroblastoma was established. The presence of alarm symptoms in anamnesis and physical examination in children with abdominal pain suggests a higher probability of the organic origin of the disease and should always lead to extended diagnostics. Ganglioneuroblastoma is a very rare disease, in most cases is located primarily in the abdominal cavity, and the most common associated symptom is abdominal pain.

[Genetic mutations as a cause of acute recurrent pancreatitis in children - case report and literature review].

Acute recurrent pancreatitis is not common in children. The epidemiology, etiology and clinical presentation of pediatric acute recurrent pancreatitis are not well understood. The etiology is diverse and multifactorial, with many cases being idiopathic. The most common etiology of acute recurrent pancreatitis in children are genetic factors, biliary duct disorders, anatomic anomalies of the pancreatobiliary system and metabolic diseases. Mutations are most commonly found in the cationic trypsynogen gene (PRSS1), the pancreatic secretory trypsin inhibitor gene (SPINK1) and the cystic fibrosis transmembrane conductance regulator gene (CFTR). The case described here is that of a 6-year-old boy, without a family history of pancreatitis, who was hospitalized several times over 5 years, with epigastric pain and high serum levels of amylase and lipase. Genetic testing showed a heterozygous variation, c.194+2T>C (IVS3+2T>C) in the SPINK1 gene and variation c.1210-34TG(11) T(5) (IVS8-5T+(TG)11) in the CFTR gene. Other etiological factors also occurred leading to the initiation and relapses of the disease.

[Co-existence of the congenital esophageal atresia and the potential coeliac disease in a child]. / Rzadko wystepujace wspólistnienie wrodzonego zarosniecia przelyku i potencjalnej choroby trzewnej u dziecka.

A case of a 4.5-year-old girl from a twin pregnancy, who was diagnosed after birth with the congenital esophageal atresia (type 3), and at the age of 4 with the potential coeliac disease. Congenital esophageal atresia was successfully treated surgically in infancy with the thoracoscopic method. The potential coeliac disease was detected in the child with a correct histopathological examination of intestinal villi and showing no enteropathy symptoms based on the presence of antibodies against tissue transglutaminase and against endomysial antibodies of smooth muscles in serum and the presence of HLA DQ2.5. In the treatment of the potential coeliac disease the girl followed a gluten-free diet.

[ETIOLOGY OF ACUTE PANCREATITIS--UNDERESTIMATED PROBLEM IN PEDIATRICS]. / ETIOLOGIA OSTREGO ZAPALENIA TRZUSTKI--NIEDOCENIONY PROBLEM W PEDIATRII.

Pediatric pancreatitis has received much attention during the past few years. The incidence of acute pancreatitis in children has increased over the past 20 years. Therefore, acute pancreatitis should be considered during the differential diagnosis of abdominal pain in children. The etiological factors are different than in adults and, in recent reports, a wide range of potential causes has been associated with acute pancreatitis in children. The most common etiology of acute pancreatitis in children are biliary duct disorders, drugs, systemic diseases, trauma and also genetic factors. More than one third of the cases is idiopathic. The good knowledge of etiological factors is very useful in the planning of the adequate diagnostic procedures. The finding of the proper cause allow us to start appropriate treatment.

[Multichannel electrogastrography in pediatrics - progress in standardisation and clinical application]. / Elektrogastrografia wielokanalowa w pediatrii - postepy w standaryzacji i zastosowaniu kinicznym.

Electrogastrography (EGG) is a non-invasive method to record gastric myoelectrical activity by means of electrodes placed on the abdominal surface. This technique allows to obtain information about gastric myoelectrical activity and indirectly about gastric motility, without affecting its physiological functions. Except traditional parameters of single channel EGG such as: dominant frequency and power, instability coefficient of dominant frequency and power, percentage of normo-, brady- and tachygastry, the multichannel electrogastrography allows for estimation and registration of the slow waves coupling and propagation as well as to improve detection of abnormalities in gastric myoelectrical activity. Many agents connected with signal detection and analysis, test meal and normative values affect the final result of EGG recording. The trials defining normative data for healthy children and optimal composition of the test meal are conducted. It seems that the establishment of standard protocol of EGG is essential. EGG in children is useful in variety of functional gastrointestinal disorders, as well as gastroesophageal reflux disease and some organic disorders e.g. diabetes mellitus. Some of these diseases are connected with gastric myoelectrical activity abnormalities but others are not easily associable with them and as such are in need of additional investigations. Despite of a rapid development of electrogastrography difficulties in finding correlations between disturbances in myoelectric stomach function and gastric motility, impaired gastric emptying and symptoms of particular disease still remain. On the other hand a normal EGG does not exclude the disease.