Genomes and Genes
Experts and Doctors on infant in Poland
Publications120 found, 100 shown here
- Obersztyn E, Kutkowska Kazmierczak A, Jakubow Durska K. [Clinical expression of triploidy]. Med Wieku Rozwoj. 2002;6:329-36 pubmed..In one of them mixoploidy (lymphocytes/fibroblasts) was confirmed. In the second pure triploidy was identified in cultured lymphocytes. We discuss the clinical features in our patients and compare them with data from medical literature. ..
- Szajewska H, Setty M, Mrukowicz J, Guandalini S. Probiotics in gastrointestinal diseases in children: hard and not-so-hard evidence of efficacy. J Pediatr Gastroenterol Nutr. 2006;42:454-75 pubmed..Thus, at present, we have some positive certainties, lots of exciting promises and many unanswered questions. ..
- Kwinta P, Pietrzyk J. Preterm birth and respiratory disease in later life. Expert Rev Respir Med. 2010;4:593-604 pubmed publisher..In these patients, a program of lung function monitoring and pulmonary prophylaxis by means of elimination of specific risk factors in adulthood is advisable. ..
- Fendler W, Pietrzak I, Brereton M, Lahmann C, Gadzicki M, Bienkiewicz M, et al. Switching to sulphonylureas in children with iDEND syndrome caused by KCNJ11 mutations results in improved cerebellar perfusion. Diabetes Care. 2013;36:2311-6 pubmed publisher..We conclude it is likely that at least some of the beneficial effects of SU treatment on neurodevelopment in iDEND patients result from improved cerebellar perfusion. ..
- Wysocki J, Brzostek J, SzymaÅ„ski H, Tetiurka B, Toporowska Kowalska E, Wasowska KrÃ³likowska K, et al. Immunogenicity and safety of a 13-valent pneumococcal conjugate vaccine administered to older infants and children naÃ¯ve to pneumococcal vaccination. Vaccine. 2015;33:1719-25 pubmed publisher..Immunological responses and safety results support the use of PCV13 for catch-up schedules in older infants and children naÃ¯ve to pneumococcal vaccination. ..
- Bagłaj M. Late-presenting congenital diaphragmatic hernia in children: a clinical spectrum. Pediatr Surg Int. 2004;20:658-69 pubmed..The wide clinical spectrum of late-presenting CDH seems to be conditioned by two factors: timing of herniation and type of intraabdominal viscera displaced into the chest. ..
- Szypowska A, Stelmaszczyk Emmel A, Demkow U, Luczyński W. Low frequency of regulatory T cells in the peripheral blood of children with type 1 diabetes diagnosed under the age of five. Arch Immunol Ther Exp (Warsz). 2012;60:307-13 pubmed publisher..Understanding the differences of immune system activity in the young diabetic children would open the way to identify children at risk for T1D and enables the use of novel forms of intervention. ..
- Brodzicki J, Trawinska Bartnicka M, Korzon M. Frequency, consequences and pharmacological treatment of gastroesophageal reflux in children with cystic fibrosis. Med Sci Monit. 2002;8:CR529-37 pubmed
- Kwinta P, Rudzinski A, Kruczek P, Kordon Z, Pietrzyk J. Can early echocardiographic findings predict patent ductus arteriosus?. Neonatology. 2009;95:141-8 pubmed publisher..Early echocardiographic studies possess negative predictive value and may decrease unnecessary surgical ligation of PDA in very low birth weight infants. ..
- Wojcicki P, Wysocki M, Wojcicka K. Ectrodactyly-ectodermal dysplasia-clefting syndrome-plastic surgeon's considerations. J Craniofac Surg. 2010;21:1388-92 pubmed publisher..Severity of cleft malformation requires surgery supported by experience and embracing the necessity of performing a greater number of more complex corrective procedures. ..
- Banaszkiewicz A, Kowalska Duplaga K, Pytrus T, Pituch H, Radzikowski A. Clostridium difficile infection in newly diagnosed pediatric patients with inflammatory bowel disease: prevalence and risk factors. Inflamm Bowel Dis. 2012;18:844-8 pubmed publisher..52) were not observed. The risk of CDI was associated with an increase in the age of the patient and the severity of the disease. The prevalence of CDI in newly diagnosed IBD patients was high and was independent of the type of disease. ..
- Obalek S, Misiewicz J, Jablonska S, Favre M, Orth G. Childhood condyloma acuminatum: association with genital and cutaneous human papillomaviruses. Pediatr Dermatol. 1993;10:101-6 pubmed..This study provides further confirmation of possible nonsexual transmission of genital HPVs and the not infrequent association of childhood condylomata with HPV 2. ..
- Wierzba Bobrowicz T, Gwiazda E, Kosno Kruszewska E, Lewandowska E, Lechowicz W, Bertrand E, et al. Morphological analysis of active microglia--rod and ramified microglia in human brains affected by some neurological diseases (SSPE, Alzheimer's disease and Wilson's disease). Folia Neuropathol. 2002;40:125-31 pubmed..Our observations revealed a strong similarity between immunohistochemical phenotypes of both morphological forms of microglia with the indication that rod microglia is a first developmental form of activated microglia. ..
- Wikiera B, Głab E, Slezak R, Wójcik E, Noczynska A. Sex chromosome pentasomy 49,XXXXY connected with hypothyroidism. Case report. Pediatr Endocrinol Diabetes Metab. 2009;15:125-7 pubmed..Subclinical hypothyroidism and severe scoliosis could further disturb his development. ..
- Krenke K, Urbankowska E, Urbankowski T, Lange J, Kulus M. Clinical characteristics of 323 children with parapneumonic pleural effusion and pleural empyema due to community acquired pneumonia. J Infect Chemother. 2016;22:292-7 pubmed publisher..With proper management, the overall prognosis in children with CAP related PPE/PE is good. ..
- Gorczynska E, Turkiewicz D, Rybka K, Toporski J, Kalwak K, Dyla A, et al. Incidence, clinical outcome, and management of virus-induced hemorrhagic cystitis in children and adolescents after allogeneic hematopoietic cell transplantation. Biol Blood Marrow Transplant. 2005;11:797-804 pubmed..Treatment with cidofovir is feasible, and further studies are warranted to evaluate its activity in HC mediated by BKV or JCV. ..
- Ijspeert H, Driessen G, Moorhouse M, Hartwig N, Wolska Kusnierz B, Kalwak K, et al. Similar recombination-activating gene (RAG) mutations result in similar immunobiological effects but in different clinical phenotypes. J Allergy Clin Immunol. 2014;133:1124-33 pubmed publisher..We postulate a model in which the type and moment of antigenic pressure affect the clinical phenotypes of these patients. ..
- Zurowska A, Feneberg R, Warady B, Zimmering M, Monteverde M, Testa S, et al. Gram-negative peritonitis in children undergoing long-term peritoneal dialysis. Am J Kidney Dis. 2008;51:455-62 pubmed publisher..Because results of empiric treatment with ceftazidime are suboptimal in the setting of this infection, alternative antimicrobial agents should be reconsidered. ..
- Wocjan J, Klisiewicz R, Krolicki L. Overpressure radionuclide cisternography and metrizamide computed tomographic cisternography in the detection of intermittent rhinoliquorrheas in children. Childs Nerv Syst. 1989;5:238-40 pubmed..In conclusion, the authors state that ORNC seems to be more sensitive in comparison to MCTC in diagnosis of intermittent rhinorrhea. MCTC, however, may be useful for precisely locating the CSF leakage. ..
- Skarzynski H, Podskarbi Fayette R. Treatment of otorhinolaryngological manifestations of three rare genetic syndromes: Branchio-Oculo-Facial (BOF), Ectrodactyly Ectodermal dysplasia Clefting (EEC) and focal dermal hypoplasia (Goltz syndrome). Int J Pediatr Otorhinolaryngol. 2009;73:143-51 pubmed publisher..However, it is of crucial importance in such cases to focus on hearing improvement in order to reach and maintain hearing at the level of social communication. ..
- Przewratil P, Sitkiewicz A, Wyka K, Andrzejewska E. Serum levels of vascular endothelial growth factor and basic fibroblastic growth factor in children with hemangiomas and vascular malformations--preliminary report. Pediatr Dermatol. 2009;26:399-404 pubmed publisher..ii) A potential role for vascular endothelial growth factor in the pathophysiology of hemangiomas is probable. ..
- Kałwak K, Porwolik J, Mielcarek M, Gorczynska E, Owoc Lempach J, Ussowicz M, et al. Higher CD34(+) and CD3(+) cell doses in the graft promote long-term survival, and have no impact on the incidence of severe acute or chronic graft-versus-host disease after in vivo T cell-depleted unrelated donor hematopoietic stem cell transplantati. Biol Blood Marrow Transplant. 2010;16:1388-401 pubmed publisher..The study findings may be limited to the population of patients receiving in vivo T cell depletion, which is now broadly used in unrelated donor setting in Europe. ..
- Zatonski W, Bhala N. Changing trends of diseases in Eastern Europe: closing the gap. Public Health. 2012;126:248-252 pubmed publisher..One of the priorities of the Polish presidency of the European Union, which began in July 2011, is the call for a European solidarity for health that could help to close the health gap dividing Europe. ..
- GrÄ…dalska Lampart M, Karczmarek Borowska B, Radziszewska A. Lung cancer in Podkarpackie region in the years 2002-2011. Pneumonol Alergol Pol. 2015;83:109-19 pubmed publisher..In the years 2002-2011 the highest value of incidence and mortality rate out of all districts of Podkarpackie Province was observed in the district LubaczÃ³w for men and in PrzemyÅ›l in case of women. ..
- Krajewska G, Hausmanowa Petrusewicz I. Abnormal nerve conduction velocity as a marker of immaturity in childhood muscle spinal atrophy. Folia Neuropathol. 2002;40:67-74 pubmed..Sensory CV was normal in all tested groups. The findings are suggestive of delayed nerve maturation in childhood SMA. ..
- Wasilewska A, Zoch Zwierz W, Taranta Janusz K, Kołodziejczyk Z. Urinary monocyte chemoattractant protein-1 excretion in children with glomerular proteinuria. Scand J Urol Nephrol. 2011;45:52-9 pubmed publisher..Increased uMCP-1 was found in children with IgAN and FSGS correlated with proteinuria. A slight increase in uMCP-1 in children with INS was probably associated with CsA treatment. ..
- Jędrychowski W, Perera F, Spengler J, Mroz E, Stigter L, Flak E, et al. Intrauterine exposure to fine particulate matter as a risk factor for increased susceptibility to acute broncho-pulmonary infections in early childhood. Int J Hyg Environ Health. 2013;216:395-401 pubmed publisher..The study also provides evidence that the target value of 20?g/m(3) for the 24-h mean level of PM2.5 protects unborn babies better than earlier established EPA guidelines. ..
- Szaflik K, KaÅºmierczak P, Moll J, Moll J. Severe Congenital Obstruction of the Left Main Coronary Artery Coexisting With Supravalvular Aortic Stenosis in Williams Syndrome: A Dangerous Association. World J Pediatr Congenit Heart Surg. 2016;7:216-9 pubmed publisher..We describe an eight-month-old female patient with Williams syndrome, supravalvular aortic stenosis, and branch pulmonary artery stenosis, with concomitant anomaly of severe obstruction of the left coronary artery orifice. ..
- Trojnarska O, Szyszka A, Gwizdała A, Siniawski A, Oko Sarnowska Z, Chmara E, et al. The BNP concentrations and exercise capacity assessment with cardiopulmonary stress test in patients after surgical repair of Fallot's tetralogy. Int J Cardiol. 2006;110:86-92 pubmed..Concentrations of BNP in surgical treatment survivors were higher and correlated well with cardiopulmonary stress study parameters. ..
- Styczynski J, Czyzewski K, Wysocki M, Gryniewicz Kwiatkowska O, Kolodziejczyk Gietka A, Salamonowicz M, et al. Increased risk of infections and infection-related mortality in children undergoing haematopoietic stem cell transplantation compared to conventional anticancer therapy: a multicentre nationwide study. Clin Microbiol Infect. 2016;22:179.e1-179.e10 pubmed publisher..In conclusion, the risk of any infections and the occurrence of resistant bacterial strains in allo-HSCT patients were higher than in auto-HSCT and PHO patients, while the outcome of infections was better in the PHO setting. ..
- Korczowski B, Szybist W. Serum procalcitonin and C-reactive protein in children with diarrhoea of various aetiologies. Acta Paediatr. 2004;93:169-73 pubmed..In this study PCT was a more reliable marker than CRP of systemic bacterial infection in children with diarrhoea. PCT was more specific but less sensitive in the differentiation of bacterial and non-bacterial aetiology of inflammation. ..
- Szymański H, Armańska M, Kowalska Duplaga K, Szajewska H. Bifidobacterium longum PL03, Lactobacillus rhamnosus KL53A, and Lactobacillus plantarum PL02 in the prevention of antibiotic-associated diarrhea in children: a randomized controlled pilot trial. Digestion. 2008;78:13-7 pubmed publisher..As the overall frequency of diarrhea was surprisingly low, these results should be interpreted with caution. ..
- Marcinek K, WÃ³jciak R, Krejpcio Z, StanisÅ‚awska Kubiak M. An Assessment of the Consumption of Energy and Selected Minerals and Their Content in the Hair of Children Aged 1-4 Years. Biol Trace Elem Res. 2016;170:255-63 pubmed publisher..There are significant correlations (r > 0.9) between the supply of Ca in the diet of children aged 1-4 years and the content of this element in their hair. ..
- Paradowska E, Jabłońska A, Studzińska M, Suski P, Kasztelewicz B, Zawilinska B, et al. Distribution of cytomegalovirus gN variants and associated clinical sequelae in infants. J Clin Virol. 2013;58:271-5 pubmed publisher..No correlation was found between the viral load and the genotype. Our results suggest that the gN genotype may be a virological marker of symptomatic HCMV infection in newborns. ..
- Niścigorska J, Sluzar T, Marczewska M, Karpinska E, Boron Kaczmarska A, Moranska I, et al. Parasitic cysts of the liver - practical approach to diagnosis and differentiation. Med Sci Monit. 2001;7:737-41 pubmed..8%). The remaining subjects, excluding one patient who underwent surgical treatment, received repeated treatment with imidazole derivatives (Zentel or Vermox). ..
- Margas G, Windak A, Tomasik T. Utilization of the out of hours service in Poland: an observational study from Krakow. BMC Health Serv Res. 2008;8:212 pubmed publisher..Significant differences between practices suggest that non medical factors may play an important role in the patient's decision to see a GP when the surgery is closed. Their influence should be limited to make the system more efficient. ..
- Taranta Janusz K, Wasilewska A, Roszkowska R, Michaluk Skutnik J. Is urine intercellular adhesion molecule-1 a marker of renal disorder in children with ureteropelvic junction obstruction?. Biomarkers. 2016;21:123-8 pubmed publisher..01), and in severe HN when compared with mild HN (p<0.05). It seemed to us that uICAM-1 is a biomarker of renal disorder, and might have the potential to predict which patients will require surgery. ..
- Czauderna P, Vajda P, Schaarschmidt K, Kalman A, Jainsch M, Engelis A, et al. Nonparasitic splenic cysts in children: a multicentric study. Eur J Pediatr Surg. 2006;16:415-9 pubmed..These therapeutic modalities can be performed laparoscopically, if technically possible. Fenestration or deroofing of the cyst resulted in a high recurrence rate (7/9). ..
- Gorczyca D, PostÄ™pski J, Czajkowska A, PaÅ›ciak M, Prescha A, OlesiÅ„ska E, et al. The profile of polyunsaturated fatty acids in juvenile idiopathic arthritis and association with disease activity. Clin Rheumatol. 2017;36:1269-1279 pubmed publisher..PUFAs may contribute to the pathogenesis of JIA and support a necessity to identify new targets suitable for successful interventional studies in JIA patients. ..
- Dzienis Koronkiewicz E, Debek W, Chyczewski L. Use of synaptophysin immunohistochemistry in intestinal motility disorders. Eur J Pediatr Surg. 2005;15:392-8 pubmed
- Sozanska B, Pearce N, Dudek K, Cullinan P. Consumption of unpasteurized milk and its effects on atopy and asthma in children and adult inhabitants in rural Poland. Allergy. 2013;68:644-50 pubmed publisher..Early-life exposure to unpasteurized milk may protect against atopy, asthma, and related conditions, independently of place of residence and farming status, and in both children and adults. ..
- Szenborn L, Kraszewska GÅ‚omba B, Jackowska T, Duszczyk E, Majda StanisÅ‚awska E, MarczyÅ„ska M, et al. Polish consensus guidelines on the use of acyclovir in the treatment and prevention of VZV and HSV infections. J Infect Chemother. 2016;22:65-71 pubmed publisher..Intravenous acyclovir should be administered for herpes infections in neonates, immunocompromised patients and patients who develop complications including neurological. ..
- Krzemień G, Szmigielska A, Bombiński P, Barczuk M, Biejat A, Warchoł S, et al. Extreme hydronephrosis due to uretropelvic junction obstruction in infant (case report). Dev Period Med. 2016;20:139-42 pubmed..Results of ultrasonography and renal dynamic scintigraphy in child with extreme hydronephrosis can be difficult to asses, therefore before the surgical procedure a lower-dose computed tomography urography should be performed. ..
- Popko K, Jasinska J, Gorska E, Demkow U, Balwierz W, Maciejka Kembłowska L, et al. Impairment of Immune Function in Children with Familial Hemophagocytic Lymphohistiocytosis. Adv Exp Med Biol. 2016;912:21-31 pubmed publisher..However, it requires further elucidation whether the presence of currently unknown mutations could lead to a similar phenotype. ..
- Izycka Swieszewska E, Debiec Rychter M, Wasag B, Wozniak A, Gasecki D, Plata Nazar K, et al. A unique occurrence of a cerebral atypical teratoid/rhabdoid tumor in an infant and a spinal canal primitive neuroectodermal tumor in her father. J Neurooncol. 2003;61:219-25 pubmed..Thus, our findings emphasize the genetic differences between the two specimens and suggest that the occurrence of these two aggressive tumors of CNS in one family could be coincidental. ..
- Åšwierzko A, Szala PoÅºdziej A, Kilpatrick D, SobociÅ„ski M, Chojnacka K, SokoÅ‚owska A, et al. Components of the lectin pathway of complement activation in paediatric patients of intensive care units. Immunobiology. 2016;221:657-69 pubmed publisher..With the possible exception of MBL, inherited lectin pathway insufficiencies do not seem to predispose to sepsis, rather changes in protein concentrations reflect alterations in disease course. ..
- Matuszczak E, Tylicka M, Hermanowicz A, Debek W, Sankiewicz A, Gorodkiewicz E. Application of SPR Imaging Biosensor for the Measurement of 20S Proteasomes in Blood Plasma of Children with Thermal Injury. Ann Clin Lab Sci. 2016;46:407-11 pubmed..Increase in circulating 20S proteasome concentration is proportional to the severity of the burn injury and do not correlate with age or sex. ..
- GÄ…tarska A, ToÅ„ska E, Ciborska J. Natural mineral bottled waters available on the Polish market as a source of minerals for the consumers. Part 1. Calcium and magnesium. Rocz Panstw Zakl Hig. 2016;67:1-8 pubmed..For 1-3-year-old children it is recommended to consume less than 1 litre daily of natural mineral waters containing an excess of 700 mg of calcium and 80 mg of magnesium in 1 litre. ..
- Murawska Ciałowicz E, Szychowska Z, Tr busiewicz B. Nitric oxide production during bacterial and viral meningitis in children. Int J Clin Lab Res. 2000;30:127-31 pubmed..Dexamethasone administered before the first parenteral antibiotic dose seems to reduce nitric oxide production in the cerebrospinal fluid during bacterial meningitis...
- Kobus K, Wegrzyn M, Lekston Z, Morawiec H, Drugacz J. Modeling of scaphocephaly using superelastic titanium-nickel rings: a preliminary report. J Craniofac Surg. 2007;18:504-10 pubmed..Observations made so far and good treatment results indicate purposefulness of discussed treatment continuation...
- Cedzynski M, Nuytinck L, Atkinson A, St Swierzko A, Zeman K, Szemraj J, et al. Extremes of L-ficolin concentration in children with recurrent infections are associated with single nucleotide polymorphisms in the FCN2 gene. Clin Exp Immunol. 2007;150:99-104 pubmed..Conversely, high l-ficolin levels were associated with variant alleles of ss32469537 and ss32469544. FCN2 genotyping should be a valuable additional tool for disease association studies. ..
- Nedoszytko B, Niedoszytko M, Lange M, van Doormaal J, Glen J, Zabłotna M, et al. Interleukin-13 promoter gene polymorphism -1112C/T is associated with the systemic form of mastocytosis. Allergy. 2009;64:287-94 pubmed publisher..The -1112C/T IL-13 gene polymorphism and the resulting 'hypertranscription' may predispose for the development of SM. ..
- Przewratil P, Sitkiewicz A, Andrzejewska E. Soluble receptors for vascular endothelial growth factor (sVEGFR1/sVEGFR2) in infantile hemangioma. Growth Factors. 2010;28:417-25 pubmed publisher..Lower serum levels of sVEGFR1 in hemangioma patients indicate the possible dysregulation between VEGFR1 and VEGFR2 receptors. ..
- Klich I, Fendler W, Wyka K, Młynarski W. Effect of the IP10 (CXCL10) and HLA genotype on the risk of type 1 diabetes in children. Pediatr Endocrinol Diabetes Metab. 2011;17:10-3 pubmed..03). Genetic variability of the IP10 gene may play a varied role depending on the inherent genetic risk of autoimmunity. IP10 (CXCL10) variability may reduce the risk of type 1 diabetes or alter its course depending on HLA background. ..
- Szachta P, Ignys I, Cichy W. An evaluation of the ability of the probiotic strain Lactobacillus rhamnosus GG to eliminate the gastrointestinal carrier state of vancomycin-resistant enterococci in colonized children. J Clin Gastroenterol. 2011;45:872-7 pubmed publisher..LGG supplementation temporarily eliminates the VRE carrier state and increases gastrointestinal counts of Lactobacillus spp. in children versus placebo. ..
- Masłoń A, Jozwiak M, Pawlak M, Modrzewski T, Grzegorzewski A. Hip joint pain in spastic dislocation: aetiological aspects. Dev Med Child Neurol. 2011;53:1019-23 pubmed publisher..The purpose of this study was to establish a correlation between the density of nociceptors localized in selected areas of the spastic dislocated hip joint and clinical evidence of hip joint pain in children with CP...
- Pastorczak A, Gorniak P, Sherborne A, Hosking F, Trelinska J, Lejman M, et al. Role of 657del5 NBN mutation and 7p12.2 (IKZF1), 9p21 (CDKN2A), 10q21.2 (ARID5B) and 14q11.2 (CEBPE) variation and risk of childhood ALL in the Polish population. Leuk Res. 2011;35:1534-6 pubmed publisher..34 (P=0.002), 1.33 (P=0.003), and 1325.21 (P=0.0028), respectively. These data provide further insights into the biological basis of ALL highlighting the existence of both common and rare disease susceptibility variants. ..
- Wasilewska A, Taranta Janusz K, Kuroczycka Saniutycz E, Zoch Zwierz W. Urinary OPN excretion in children with glomerular proteinuria. Adv Med Sci. 2011;56:193-9 pubmed publisher..in all the groups of children with glomerulonephritis. The highest uOPN/ cr. levels were found in patients with FSGS and correlated significantly with both interstitial changes and mesangial expansion found in kidney biopsy. ..
- Semeniuk J, Kaczmarski M, Wasilewska J. Serum gastrin concentrations in children with primary gastroesophageal reflux and gastroesophageal reflux secondary to cow's milk allergy. Adv Med Sci. 2011;56:186-92 pubmed publisher..The mean fasting serum gastrin concentrations in patients with primary and secondary GER were similar and mean postprandial concentrations were higher than fasting concentrations in both study groups. ..
- KaciÅ„ski M, Budziszewska B, LasoÅ„ W, ZajÄ…c A, Skowronek BaÅ‚a B, LeÅ›kiewicz M, et al. Level of S100B protein, neuron specific enolase, orexin A, adiponectin and insulin-like growth factor in serum of pediatric patients suffering from sleep disorders with or without epilepsy. Pharmacol Rep. 2012;64:1427-33 pubmed..Out of the five putative biomarkers measured, blood concentration of S100B and orexin A may be helpful in differentiating parasomnic pediatric patients with and without epilepsy. ..
- Azukaitis K, Simkova E, Majid M, Galiano M, Benz K, Amann K, et al. The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase ε. J Am Soc Nephrol. 2017;28:3066-3075 pubmed publisher..Furthermore, the benefits of anti-complement therapy are questionable but renal transplant may be a feasible option in the treatment of patients with this condition. ..
- Maas R, Iwanicka Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al Owain M, et al. Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases. Ann Neurol. 2017;82:1004-1015 pubmed publisher..MEGDHEL syndrome is a progressive deafness-dystonia syndrome with frequent and reversible neonatal liver involvement and a strikingly homogenous course of disease. Ann Neurol 2017;82:1004-1015. ..
- Duszczyk E, Karney A, Kowalewska Kantecka B, Gryglicka H. [Borreliosis in children - clinical manifestation, diagnosis and treatment]. Med Wieku Rozwoj. 2003;7:49-56 pubmed..In the acute stage Elisa assay was positive in 33% only. The erythema migrans cases received treatment with Amoxicillin for two weeks, whilst patients with neuroborreliosis were treated for 4 weeks with Ceftriaxon...
- Gach A, Wyka K, Malecki M, Noczynska A, Skupien J, Nazim J, et al. Islet-specific antibody seroconversion in patients with long duration of permanent neonatal diabetes caused by mutations in the KCNJ11 gene. Diabetes Care. 2007;30:2080-2 pubmed
- Laure Kamionowska M, Maslinska D. Calbindin positive Purkinje cells in the pathology of human cerebellum occurring at the time of its development. Folia Neuropathol. 2009;47:300-5 pubmed
- Taran K, Owecka A, Kobos J. Prognostic importance of cyclin E1 expression in neuroblastic tumors in children. Pol J Pathol. 2013;64:149-52 pubmed..The mean values of cyclin E1 indexes in fatal cases were twice as high as in other cases. The results indicate that high cyclin E1 expression may have prognostic importance in neuroblastic tumors in children. ..
- Bogunia Kubik K, Lange A. HSP70-hom gene polymorphism in allogeneic hematopoietic stem-cell transplant recipients correlates with the development of acute graft-versus-host disease. Transplantation. 2005;79:815-20 pubmed..Polymorphism of the HSP70-hom gene is associated with the development of posttransplant complications. Recipient HSP-AA homozygous genotype is a risk factor for aGVHD. ..
- Lauterbach R, Pawlik D, Radziszewska R, Woźniak J, Rytlewski K. Plasma antithrombin III and protein C levels in early recognition of late-onset sepsis in newborns. Eur J Pediatr. 2006;165:585-9 pubmed..Plasma PC functional concentration below 10% might be the indication for supplementation of PC concentrate. ..
- Jedrzejowska M, Milewski M, Zimowski J, Borkowska J, Kostera Pruszczyk A, Sielska D, et al. Phenotype modifiers of spinal muscular atrophy: the number of SMN2 gene copies, deletion in the NAIP gene and probably gender influence the course of the disease. Acta Biochim Pol. 2009;56:103-8 pubmed..In three patients, we observed genotypes atypical for the chronic forms of SMA: two patients with SMA3a and 3b had a deletion of the NAIP gene, and a third patient with SMA2 had one copy of the SMN2 gene. ..
- Cedzynski M, Atkinson A, St Swierzko A, MacDonald S, Szala A, Zeman K, et al. L-ficolin (ficolin-2) insufficiency is associated with combined allergic and infectious respiratory disease in children. Mol Immunol. 2009;47:415-9 pubmed publisher..MBL insufficiency and MASP-2 deficiency are risk factors for recurrence of infections independently of allergic disease. ..
- Reich M, Reich A, Rzeszutko M, Iwanczak B. Gastroesophageal reflux disease accompanying urticaria pigmentosa. Acta Dermatovenerol Croat. 2011;19:264-7 pubmed..Treatment with sodium cromoglycate, cetirizine, ranitidine and probiotics resulted in pruritus alleviation, improvement of appetite and sleeping as well as increase of body weight...
- Acuna Hidalgo R, Deriziotis P, Steehouwer M, Gilissen C, Graham S, van Dam S, et al. Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies. PLoS Genet. 2017;13:e1006683 pubmed publisher..Drawing on previous studies of somatic SETBP1 mutations in leukemia, our results reveal a genotype-phenotype correlation in germline SETBP1 mutations spanning a molecular, cellular and clinical phenotype. ..
- Góreczny S, Dryzek P, Morgan G, Lukaszewski M, Moll J, Moszura T. Novel Three-Dimensional Image Fusion Software to Facilitate Guidance of Complex Cardiac Catheterization : 3D image fusion for interventions in CHD. Pediatr Cardiol. 2017;38:1133-1142 pubmed publisher..VesselNavigator was useful in guidance of nearly all of cardiac catheterizations. The combination of anatomical markers and low-volume contrast injections allowed reliable 2D-3D registration in the vast majority of patients. ..
- Trautmann A, Schnaidt S, Lipska Ziętkiewicz B, Bodria M, Ozaltin F, Emma F, et al. Long-Term Outcome of Steroid-Resistant Nephrotic Syndrome in Children. J Am Soc Nephrol. 2017;28:3055-3065 pubmed publisher..Children with multidrug-resistant sporadic disease show better renal survival than those with genetic disease. Furthermore, histopathologic findings may retain prognostic relevance when a genetic diagnosis is established. ..
- Polanska K, Hanke W, Krol A, Gromadzinska J, Kuras R, Janasik B, et al. Micronutrients during pregnancy and child psychomotor development: Opposite effects of Zinc and Selenium. Environ Res. 2017;158:583-589 pubmed publisher..Further epidemiological and preclinical studies are necessary to confirm the associations between micronutrient levels and child development as well as to elucidate the underlying mechanisms of their effects. ..
- Kacinski M, Kaczmarski F, Miezynski W, Grzenda Adamek Z, Miszczuk Jamska B, Stopyrowa J, et al. A case of abetalipoproteinaemia in a Polish family. Eur J Pediatr. 1991;150:429-32 pubmed..Among five siblings only the two affected children had ABLP-characteristic lipid storage in enterocytes. The latter features correlated better with clinical symptoms than did the acanthocytosis of erythrocytes...
- Pietka E, Gertych A, Pospiech S, Cao F, Huang H, Gilsanz V. Computer-assisted bone age assessment: image preprocessing and epiphyseal/metaphyseal ROI extraction. IEEE Trans Med Imaging. 2001;20:715-29 pubmed..Extracted features describe the stage of skeletal development more objectively than visual comparison...
- Sulko J, Czarny Ratajczak M, Wozniak A, Latos Bielenska A, Kozlowski K. Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita. Am J Med Genet A. 2005;137A:292-7 pubmed
- Muszyńska Rosłan K, Krawczuk Rybak M, Protas P, Hołownia A. Level of tau protein in children treated for acute lymphoblastic leukemia. Pediatr Neurol. 2006;34:367-71 pubmed..This finding requires further studies, also in reference to other central nervous system proteins, and confirms the necessity of long-term follow-up of leukemia patients...
- Chobot A, Deja G, Marcinkowski A, Myrda A, Minkina Pedras M, Jarosz Chobot P, et al. [Treatment of type 1 diabetes mellitus revealed below 7 years of age in the Diabetes Center of Silesia, Poland]. Pediatr Endocrinol Diabetes Metab. 2007;13:75-8 pubmed..Within this group, such factors as limited cooperation, little acceptance of multiple injections and other typical patterns of behavior can strongly influence the insulin management outcome...
- Lesiak A, Kuna P, Zakrzewski M, van Geel M, Bladergroen R, Przybylowska K, et al. Combined occurrence of filaggrin mutations and IL-10 or IL-13 polymorphisms predisposes to atopic dermatitis. Exp Dermatol. 2011;20:491-5 pubmed publisher..FLG mutation, alone and in combination with certain IL-10 or IL-13 polymorphisms, enhances the risk for the development of AD in the Polish population. ..
- Koleda P, Apoznanski W, Wozniak Z, Rusiecki L, Szydelko T, Pilecki W, et al. Changes in interstitial cell of Cajal-like cells density in congenital ureteropelvic junction obstruction. Int Urol Nephrol. 2012;44:7-12 pubmed publisher..The authors examined the number of interstitial cells of Cajal-like cells (ICC-LCs) in obstructed ureteropelvic junction (UPJ) in comparison with normal UPJ specimens and age-related changes...
- Pychyńska Pokorska M, Pagowska Klimek I, Krajewski W, Moll J. Use of recombinant activated factor VII for controlling refractory postoperative bleeding in children undergoing cardiac surgery with cardiopulmonary bypass. J Cardiothorac Vasc Anesth. 2011;25:987-94 pubmed publisher..8%) of pediatric cardiac surgery patients. High doses were required to discontinue bleeding promptly in neonates, the majority of whom had hypoplastic left-heart syndrome. No treatment-related thrombotic events were observed. ..
- Płuciennik E, Nowakowska M, Wujcicka W, Sitkiewicz A, Kazanowska B, Zielinska E, et al. Genetic alterations of WWOX in Wilms' tumor are involved in its carcinogenesis. Oncol Rep. 2012;28:1417-22 pubmed publisher..Moreover, our analysis indicates that in this type of tumor the expression of the WWOX gene can be regulated by an epigenetic mechanism--its promoter methylation. ..
- Leszczynska Rodziewicz A, Szczepankiewicz A, Dmitrzak Weglarz M, Rajewska Rager A, Skibinska M, Hauser J. No association between polymorphisms and haplotypes of the AVPR1b, CRHR1 and NR3C1 genes and depression with melancholic features in the course of bipolar disorder. Psychiatry Res. 2013;207:140-2 pubmed publisher..No association was found for alleles, genotypes, or haplotype analysis for NR3C1, AVPR1b, and CRHR1 genes and melancholic depression. ..
- Sonnenschein van der Voort A, Arends L, de Jongste J, Annesi Maesano I, Arshad S, Barros H, et al. Preterm birth, infant weight gain, and childhood asthma risk: a meta-analysis of 147,000 European children. J Allergy Clin Immunol. 2014;133:1317-29 pubmed publisher..01-1.27). Younger gestational age at birth and higher infant weight gain were associated with childhood asthma outcomes. The associations of lower birth weight with childhood asthma were largely explained by gestational age at birth. ..
- Smereka J, Szarpak L, Rodriguez Nunez A, Ladny J, Leung S, Ruetzler K. A randomized comparison of three chest compression techniques and associated hemodynamic effect during infant CPR: A randomized manikin study. Am J Emerg Med. 2017;35:1420-1425 pubmed publisher..Whether this technique translates to improved outcomes over existing techniques needs further animal studies and subsequent human trials. ..
- Mozrzymas R, Konikowska K, Regulska Ilow B. Energy exchangers with LCT as a precision method for diet control in LCHADD. Adv Clin Exp Med. 2017;26:515-525 pubmed publisher..This method can be used by doctors and dietitians who specialize in treating rare metabolic diseases. It can also be used by patients and their families for accurate menu planning with limited LCT content. ..
- Zekanowski C, Nowacka M, Radomyska B, Cabalska B. Should newborn mutation scanning for hyperphenylalaninaemia and galactosaemia be implemented? A Polish experience. J Med Screen. 2001;8:132-6 pubmed..Routine genotyping is not proposed in classic phenylketonuria and classic galactosaemia, as it provides limited additional, prospective information on the clinical phenotype. ..