Publications by authors named "Rūta Kucinskiene"

9 Publications

  • Page 1 of 1

Two Lithuanian Cases of Classical Galactosemia with a Literature Review: A Novel Gene Mutation Identified.

Medicina (Kaunas) 2020 Oct 25;56(11). Epub 2020 Oct 25.

Department of Pediatrics, Medical Academy, Lithuanian University of Health Sciences, LT 44307 Kaunas, Lithuania.

Galactosemia is a rare autosomal recessive genetic disorder that causes impaired metabolism of the carbohydrate galactose. This leads to severe liver and kidney insufficiency, central nervous system damage and long-term complications in newborns. We present two clinical cases of classical galactosemia diagnosed at the Lithuanian University of Health Sciences (LUHS) Kaunas Clinics hospital and we compare these cases in terms of clinical symptoms and genetic variation in the gene. The main clinical symptoms were jaundice and hepatomegaly, significant weight loss, and lethargy. The clinical presentation of the disease in Patient 1 was more severe than that in Patient 2 due to liver failure and -induced sepsis. A novel, likely pathogenic variant NM_000155.4:c.305T>C (p.Leu102Pro) was identified and we believe it could be responsible for a more severe course of the disease, although further study is needed to confirm this. It is very important to suspect and diagnose galactosemia as early in its course as possible, and introduce lactose-free formula into the patient's diet. Wide-scale newborn screening and genetic testing are particularly crucial for the early detection of the disease.
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http://dx.doi.org/10.3390/medicina56110559DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7693318PMC
October 2020

Vaccinations and Immunization Status in Pediatric Inflammatory Bowel Disease: A Multicenter Study From the Pediatric IBD Porto Group of the ESPGHAN.

Inflamm Bowel Dis 2020 08;26(9):1407-1414

Department of Translational Medical Science, Section of Pediatrics, University of Naples "Federico II," Napoli, Italy; Napoli, Italy.

Background: Vaccine-preventable diseases and opportunistic infections in pediatric inflammatory bowel disease (IBD) are increasingly recognized issues. The aims of this study were to evaluate vaccinations, immunization status, and consequent therapeutic management in children with IBD and to analyze the differences among patients diagnosed before (Group 1) and after June 2012 (Group 2).

Methods: This was a multicenter, retrospective cohort investigation. Between July 2016 and July 2017, 430 children with IBD were enrolled in 13 centers. Diagnosis, therapeutic history, vaccinations, and immunization status screening at diagnosis and at immunosuppressant (IM)/biologic initiation and reasons for incomplete immunization were retrieved.

Results: Vaccination rates at diagnosis were unsatisfactory for measles, mumps, and rubella (89.3%), Haemophilus influenzae (81.9%), meningococcus C (23.5%), chickenpox (18.4%), pneumococcus (18.6%), papillomavirus (5.9%), and rotavirus (1.9%). Complete immunization was recorded in 38/430 (8.8%) children, but specific vaccines were recommended in 79/430 patients (18.6%), without differences between the 2 groups. At IM start, 22% of children were tested for Epstein-Barr virus (EBV) status, with 96.2% of EBV-naïve patients starting azathioprine, without differences between Groups 1 and 2. Screening for latent tuberculosis (TB) before start of biologics was performed in 175/190 (92.1%), with up to 9 different screening strategies and numerous inconsistencies.

Conclusions: We demonstrated a poor immunization status at diagnosis in children with IBD, which was not followed by proper vaccination catch-up. EBV status before IM initiation and latent TB before biologics were not adequately assessed. Thus, the overall impact of the current guidelines seems unsatisfactory.
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http://dx.doi.org/10.1093/ibd/izz264DOI Listing
August 2020

Case Report on a Rare Disease in Lithuania: Congenital Chloride Diarrhea.

J Pediatr Genet 2019 Mar 25;8(1):24-26. Epub 2018 Aug 25.

Department of Genetics and Molecular Medicine, Hospital of Lithuanian University of Health Sciences, Kaunas, Lithuania.

Congenital chloride diarrhea (CCD) is a rare disease, manifesting with secretory diarrhea and life-threatening electrolyte imbalance during infancy. The early diagnosis of CCD is therefore necessary for the adequate treatment. The long-term prognosis of properly managed CCD is favorable. We present a case of complicated CCD with necrotizing enterocolitis. The child was born to nonconsanguineous parents of Lithuanian origin. CCD was suspected due to watery diarrhea, progressive hypochloremia, and high fecal chlorides. Despite oral electrolytes being prescribed, volvulus of small intestine developed requiring several surgical interventions. The clinical diagnosis of CCD was confirmed by molecular genetic testing of , which revealed two Polish founder mutations in the DNA of the patient. The prevalence of CCD in Lithuanian neighbor Poland is approximately 1 in 200,000 live births. This is the first described case of CCD in Lithuania to our knowledge, leading to the suggestion that this disease may be underdiagnosed.
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http://dx.doi.org/10.1055/s-0038-1669437DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6375714PMC
March 2019

Primary antibiotic resistance of Helicobacter pylori strains among adults and children in a tertiary referral centre in Lithuania.

APMIS 2018 Jan 13;126(1):21-28. Epub 2017 Nov 13.

Department of Clinical Microbiology 9301, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.

The study evaluated primary antibiotic resistance of Helicobacter pylori within the period 2013-2015 and trends of antibiotic consumption over the last decade in Lithuania; 242 adults and 55 children were included in the study. E-tests were performed for amoxicillin, metronidazole, clarithromycin, ciprofloxacin, rifampicin and tetracycline. The presence of H. pylori and clarithromycin resistance was additionally tested by PCR. Helicobacter pylori culture was positive in 67 of 242 (28%) adult and in 12 of 55 (21.8%) children samples. Resistance rates among adults by E-tests were as follows: metronidazole - 32.8% (95% confidence interval (CI): 22.7-44.7%), ciprofloxacin - 7.5% (95% CI: 3.2-16.3%), rifampicin - 7.5% (95% CI: 3.2-16.3%), amoxicillin - 0%, whereas resistance rates in children were as follows: metronidazole - 25% (95% CI: 8.9-53.2%), rifampicin - 8.3% (CI: 1.5-35.4%), amoxicillin and ciprofloxacin - 0%. Accumulated clarithromycin resistance rates by E-tests and PCR were 8.2% (95% CI: 4.1-16.0%) in adults and 17.7% (95% CI: 6.2-41.0%) in children. Total use of macrolides and lincosamides in Lithuania increased from 1.26 to 1.86 defined daily dose (DDD)/1000 inhabitants/day among adults, while it has doubled from 1.10 to 2.22 DDD/1000/children/day in children within 2003-2015. There are no significant changes in the susceptibility of H. pylori to the most widely used antibiotics in adults over the last years in Lithuania; however, clarithromycin resistance among children exceeds 15% and mandates further larger-scale studies in paediatric population.
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http://dx.doi.org/10.1111/apm.12752DOI Listing
January 2018

Associations between NOD2, IRGM and ORMDL3 polymorphisms and pediatric-onset inflammatory bowel disease in the Lithuanian population.

Medicina (Kaunas) 2016 25;52(6):325-330. Epub 2016 Nov 25.

Department of Gastroenterology, Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania.

Background And Objective: Recent GWAS and meta-analyses have revealed about 200 susceptibility genes/loci for inflammatory bowel diseases (IBD). However, only a small number of studies were performed in early-onset IBD. The aim of this study was to assess the association between NOD2, IL23R, ATG16L1, IRGM, IL10, NKX2-3 and ORMDL3 variants and early-onset IBD.

Materials And Methods: A total of 76 affected individuals (30 with Crohn's disease [CD] and 46 with ulcerative colitis [UC]) at the age of ≤17 years and 158 matched controls recruited in Lithuania were genotyped for the known genetic susceptibility variants in NOD2 (Arg702Trp (rs2066844), Gly908Arg (rs2066845) and Leu1007insC (rs2066847)), IL23R (rs11209026), ATG16L1 (rs2241880), IRGM (rs4958847), IL10 (rs3024505), NKX2-3 (rs11190140) and ORMDL3 (rs2872507) genes.

Results: Variants in NOD2 (Leu1007insC) and IRGM genes increased risk for CD (OR=6.56, 95% CI: 2.54-16.91, P=1.21×10 and OR=2.32, 95% CI: 1.05-5.14, P=0.033; respectively); whereas a variant in ORMDL3 gene was strongly associated with UC (OR=1.99, 95% CI: 1.23-3.20, P=4.15×10).

Conclusions: The results confirmed that polymorphisms in NOD2 (Leu1007insC) and IRGM genes are associated with increased risk of CD; whereas the ORMDL3 variant is associated with susceptibility to UC in the Lithuanian early-onset IBD population.
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http://dx.doi.org/10.1016/j.medici.2016.11.006DOI Listing
December 2017

Incidence of inflammatory bowel disease in Kaunas region, Lithuania.

Medicina (Kaunas) 2012 ;48(8):431-5

Department of Gastroenterology, Medical Academy, Lithuanian University of Health Sciences, Kaunas, Lithuania.

Objective: The aim of this study was to evaluate the incidence of inflammatory bowel disease in Kaunas and its region during a 3-year period.

Material And Methods: The study was conducted during the 3-year period (2007-2009) and enrolled the patients from Kaunas with its region, which has a population of 381,300 inhabitants. The data were collected from all practices in the area where the diagnosis of inflammatory bowel disease was made by practicing gastroenterologists and consulting pediatricians along with endoscopists. Only new cases of inflammatory bowel disease were included into analysis. The diagnosis of ulcerative colitis and Crohn's disease was strictly made according to the Copenhagen criteria. Age- and sex-standardized incidence was calculated for each year of the study period.

Results: A total of 108 new inflammatory bowel disease cases were diagnosed during the study period: 87 had ulcerative colitis, 16 Crohn's disease, and 5 indeterminate colitis. The incidence of ulcerative colitis, Crohn's disease, and indeterminate colitis for each study year was 6.85, 5.33, and 7.38 per 100,000; 0.95, 1.11, and 1.57 per 100,000; and 0.47, 0.21, and 0.42 per 100,000, respectively. The average 3-year standardized incidence of ulcerative colitis, Crohn's disease, and indeterminate colitis was 6.52, 1.21, and 0.37 per 100,000, respectively. The mean patients' age at onset of ulcerative colitis, indeterminate colitis, and Crohn's disease was 49.95 (SD, 17.03), 49.80 (SD, 17.71), and 34.94 years (SD, 0.37), respectively.

Conclusions: The average 3-year incidence of ulcerative colitis in Kaunas region was found to be lower as compared with that in many parts of Central and Western Europe. The incidence of Crohn's disease was low and very similar to other countries of Eastern Europe. Age at onset of the diseases appeared to be older than that reported in the Western industrialized countries.
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September 2013

[Relevance of examination and treatment of the most common gastrointestinal disorders in children in Lithuania during the last decade].

Medicina (Kaunas) 2008 ;44(1):72-80

Department of Children Diseases, Kaunas University of Medicine, Kaunas, Lithuania.

In the last decade, scientific studies in the field of children's gastroenterology performed in Lithuania explored different problems: pathology of Helicobacter pylori infection and food allergy. Our studies revealed that children with atopic dermatitis had gastrointestinal complaints (abdominal pain, diarrhea, distension and unstable stool, which appeared with the exacerbation of skin rash) more often as compared to nonallergic children of the control group. Abdominal pain in children with atopic dermatitis with local rash was more frequent and lasted longer than in control group children, whereas children with extended rash had stools more frequently. Gastrointestinal disorders in children with atopic dermatitis statistically significantly did not depend on the extent of skin rash and severity of atopic dermatitis. In our scientific research on the importance of H. pylori infection on children's gastrointestinal system, children with chronic dyspepsia were examined. Endoscopy, rapid urease test, biopsies from antrum and corpus of stomach and their histological examination as well as serologic tests were done. According to the results obtained, we recommend to examine children with chronic dyspepsia in a complex way: not only endoscopic examination, but H. pylori diagnostic tests should be performed as well. Serologic test is not suitable for screening H. pylori infection in children. Considering this, we recommend to use no fewer than two different methods to diagnose this infection. The highest frequency of H. pylori infection was found in children with duodenal ulcer; histological changes in their gastric pylorus and corpus mucosa were greatest. More than half of children with nonulcer dyspepsia were infected with H. pylori. After eradication of H. pylori infection, the prevalence of dyspepsia in children with duodenal ulcer decreased.
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March 2008

The humoral immuneresponse to Helicobacter pylori infection in children with gastrointestinal symptoms.

FEMS Immunol Med Microbiol 2005 May;44(2):205-12

Department of Microbiology, Kaunas University of Medicine, Lithuania.

The prevalence of Helicobacter pylori is high in Eastern Europe. The purpose of this study was to estimate the prevalence of H. pylori in symptomatic Lithuanian children and to identify the infection by clinicopathological and serological analyses. One hundred sixteen symptomatic children (age 8-16) with gastritis and duodenal ulcer were included. Biopsies were histologically assessed according to the Sydney-System. Serum IgG antibodies against H. pylori were detected by an enzyme-linked immunosorbent assay (ELISA), using low molecular mass antigen. The western blot technique was used to detect serum antibodies against the cytotoxin-associated protein (CagA) using whole cell antigen. Histologically the prevalence of H. pylori infection was 79% and not influenced by demographic factors. Mucosal inflammation and atrophy were associated with a H. pylori infection. Intestinal metaplasia was found in eight children, suggesting early H. pylori acquisition in life. Increased levels of IgG antibodies were detected in 57% of children. The prevalence of IgG antibodies was significantly higher in patients with duodenal ulcer compared to children with gastritis. Forty-four (67%) H. pylori-seropositive children had antibodies against CagA. Low molecular weight-ELISA and whole cell-western blot results were significantly associated with histopathology, the presence of duodenal ulcer and the CagA status. A high number of false seronegative cases were due to poor immunological responses in children and poor locally validated tests. The prevalence of H. pylori infection in Lithuanian children is higher compared to Western Europe. The infection is acquired in early life. Diagnosing H. pylori infection, serology is helpful, but endoscopy/histology remains as gold standard.
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http://dx.doi.org/10.1016/j.femsim.2005.02.005DOI Listing
May 2005

Microvillous inclusion disease.

Medicina (Kaunas) 2004 ;40(9):864-7

Clinic of Children Diseases, Kaunas University of Medicine Hospital, 50010 Kaunas, Lithuania.

Congenital defects in the intestinal mucosa can provoke diarrhea in the neonatal period. This kind of diarrhea is difficult to treat and the outcome is bad if intestinal transplantation is not done. We describe the case of newborn female with severe protracted secretory diarrhea, which started after first oral intake of breast milk. The newborn presented with severe dehydration and persistent metabolic acidosis though potential treatment was not stopped. Endoscopy with the biopsies from the distal part of duodenum mucosa was done on the third week of life. Histological examination revealed the pathological mucosa with the total microvillous atrophy, surface epithelium thinning and histochemical PAS (Periodic acid-Schiff reaction) positivity of enterocytes apical region. These changes are typical for rare microvillous inclusion disease. When the diagnosis of microvillous inclusion disease is made, the only treatment is total parenteral nutrition and intestinal transplantation.
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February 2006
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