Niejednoznaczna diagnoza mukowiscydozy u dzieci z pozytywnym wynikiem badania przesiewowego
Conclusions The introduction of CF NBS has not only enabled early diagnosis of CF, but has also helped to detect changes in the CFTR with unclear clinical consequences. Changes are necessary, in order to reduce the detection of mutations of unclear phenotypic consequences. (Source: Pediatria Polska)
Source: Pediatria Polska - April 27, 2016 Category: Pediatrics Source Type: research

Różnorodność obrazu klinicznego oraz trudności w diagnostyce zespołu Beckwitha i Wiedemanna w okresie noworodkowym
Publication date: Available online 25 April 2016 Source:Pediatria Polska Author(s): Dominika Jedlińska, Justyna Czech-Kowalska, Katarzyna Wójcicka-Kowalczyk, Dorota Bulsiewicz, Magdalena Rybkowska, Dorota Maksym-Gąsiorek, Anna Dobrzańska Beckwith-Wiedemann syndrome is an overgrowth syndrome complicated both phenotypically and genetically. The aim of the study is to present a few cases of newborn babies with B-W syndrome in order to let especially neonatologists and pediatrics follow the diagnostic process. It may make it easier for them to suggest the diagnosis of this syndrome. According to an increa...
Source: Pediatria Polska - April 25, 2016 Category: Pediatrics Source Type: research

Stan zdrowia, płodność i potomstwo oraz sytuacja socjoekonomiczna osób po leczeniu choroby nowotworowej układu krwiotwórczego w dzieciństwie
Conclusions Late health complications occur in people treated for neoplastic disease in childhood. No influence of former neoplastic disease on psychosocial functioning or status and growth of offspring was noticed. (Source: Pediatria Polska)
Source: Pediatria Polska - April 25, 2016 Category: Pediatrics Source Type: research

Clinical profile of scrub typhus in children treated in a tertiary care hospital in eastern India
Conclusion Our result showed that scrub typhus should be suspected in all cases of fever without an identifiable cause irrespective of age. Serosal effusions and anicteric hepatitis must raise the possibility of scrub typhus among clinicians. (Source: Pediatria Polska)
Source: Pediatria Polska - April 24, 2016 Category: Pediatrics Source Type: research

The clinical use of hypertonic saline/salbutamol in treatment of bronchiolitis
Conclusions Nebulised 3% saline (with salbutamol) is not superior to 0.9% (with salbutamol) in the treatment of mild to moderate bronchiolitis. (Source: Pediatria Polska)
Source: Pediatria Polska - April 23, 2016 Category: Pediatrics Source Type: research

Choroba czy zespół Caroliego? Od zaburzeń embriogenezy do przeszczepienia wątroby
Publication date: Available online 21 April 2016 Source:Pediatria Polska Author(s): Patryk Lipiński, Dorota Wicher, Piotr Kaliciński, Joanna Cielecka-Kuszyk, Irena Jankowska Caroli's disease is a rare congenital disease of the liver characterized by multiple segmental cystic dilatation of intrahepatic bile ducts. The disease is referred as Caroli's syndrome when it is associated with congenital hepatic fibrosis. The clinical features include jaundice, right upper abdominal pain, and fever due to the associated complications of bacterial cholangitis. Owing to the rarity of this disorder, the diagnosis and tr...
Source: Pediatria Polska - April 21, 2016 Category: Pediatrics Source Type: research

Nieceliakalna nadwrażliwość na gluten – charakterystyka i leczenie
Publication date: Available online 20 April 2016 Source:Pediatria Polska Author(s): Katarzyna Akutko, Tomasz Pytrus, Barbara Iwańczak Non-celiac gluten sensitivity – NCGS – is a set of gluten-dependent symptoms and disorders, which in recent years has aroused the interest of scientists and clinicians around the world. Etiopathogenesis has not yet been clarified. There has not been any specific NCGS biomarker identified that could serve the diagnosis or monitoring the treatment. Diagnosis of NCGS requires causal relationship between the onset of clinical symptoms and the consumption of gluten containing food ...
Source: Pediatria Polska - April 20, 2016 Category: Pediatrics Source Type: research

Zjawisko fotowrażliwości u dzieci i młodzieży z napięciowymi bólami głowy – jego objawy i sposoby zapobiegania. Doświadczenia własne
Conclusion The use of Italian blue lenses allows to improve EEG recordings in a large percentage of pediatric patients with tension headaches. The use of Z1 lenses can be considered an effective alternative in the reduction adverse effects of the photosensitivity in children and adolescents. (Source: Pediatria Polska)
Source: Pediatria Polska - April 17, 2016 Category: Pediatrics Source Type: research

Trudności diagnostyczne późno objawiającej się wrodzonej przepukliny przeponowej – opis przypadku i przegląd piśmiennictwa
Publication date: Available online 14 April 2016 Source:Pediatria Polska Author(s): Patrycja Starzak, Wojciech Korlacki, Michał Pasierbek, Andrzej Grabowski Congenital diaphragmatic hernia (CDH) is a developmental defect that is most commonly diagnosed prenatally or at birth. However, 2.6–45.5% of all cases of CDH are detected in later stages of life. Late-presenting CDH is a diagnostic and therapeutic challenge for pediatricians and pediatric surgeons. The authors present a case of a boy with a late-presenting CDH diagnosed at the age of 14 years. The long and complicated diagnostic path is discussed in whi...
Source: Pediatria Polska - April 17, 2016 Category: Pediatrics Source Type: research

Czy przesiewowe badania ultrasonograficzne ośrodkowego układu nerwowego i jamy brzusznej u noworodków ≥35. tygodnia ciąży powinny być rekomendowane
Publication date: Available online 15 April 2016 Source:Pediatria Polska Author(s): Paweł Gałecki, Aleksandra Sawicka, Anna Zaniewska, Maria Katarzyna Borszewska-Kornacka Ultrasonography of newborns born long before term and newborns with extremely low birth weight or other significant pathology has become a gold standard on the neonatal pathology units and NICU. It is a rather simple method and non-invasive; it does not bring the increased risk to the newborns, and is providing much information about the condition of the patient, the course of disease, the effectiveness of the treatment and further predictio...
Source: Pediatria Polska - April 17, 2016 Category: Pediatrics Source Type: research

CFSPID – czyli pozytywny wynik przesiewu noworodkowego, ale niejednoznaczna diagnoza mukowiscydozy
Publication date: Available online 19 March 2016 Source:Pediatria Polska Author(s): Dorota Sands, Ewa Tramś, Katarzyna Zybert Chloride channel dysfunction caused by pathogenic mutations in the CFTR gene leads to clinical symptoms of cystic fibrosis. With the development of techniques of molecular diagnostics, the number of discovered mutations has increased. Not every change in the CFTR gene causes clinical symptoms. The course of disease is variable, and it may also present in adulthood. The introduction of neonatal screening has led to creation of a new group of potential patients – children without symptoma...
Source: Pediatria Polska - April 8, 2016 Category: Pediatrics Source Type: research

Karmienie piersią w teorii i praktyce w regionie Pomorza Zachodniego
Conclusions There is a significant difference between the infant feeding recommendations and their realization. In the region of Western Pomerania the prevalence of breastfeeding is still too low in the first six months of life. In the last few years in the studied region an increased prevalence of breastfeeding by mothers living in smaller towns and villages has been observed. There is a clear need for an information campaign on infant nutrition. It is highly important to increase the role of health care providers in sharing knowledge about infant feeding techniques and the multidimensional benefits of breastfeeding. (Sou...
Source: Pediatria Polska - March 31, 2016 Category: Pediatrics Source Type: research

The impact of lactose malabsorption and lactose intolerance on dairy consumption in children and adolescents with selected gastrointestinal diseases
Conclusions Lactose intolerance decreases milk consumption, but does not affect other dairy consumption. Dietary preferences play a key role in dairy consumption in lactose absorbers and lactose tolerant children. (Source: Pediatria Polska)
Source: Pediatria Polska - March 31, 2016 Category: Pediatrics Source Type: research

Zjawisko fotowrażliwości w populacji dzieci i młodzieży, jego objawy i sposoby zapobiegania – doświadczenia własne
Conclusion The use of Italian blue lenses allows to improve EEG recordings in a large percentage of pediatric patients with tension headaches. The use of Z1 lenses can be considered an effective alternative in the reduction adverse effects of the photosensitivity in children and adolescents. (Source: Pediatria Polska)
Source: Pediatria Polska - March 31, 2016 Category: Pediatrics Source Type: research

Analiza zawartości cukru oraz pH endogennego płynnych leków pediatrycznych
Conclusions Pediatric liquid medications and diet supplements contain saccharose and manifest low pH; therefore, prescribers and pharmacists should recommend mouthwash using neutral solution (water) after their ingestion. This recommendation should also be included in package leaflet. (Source: Pediatria Polska)
Source: Pediatria Polska - March 29, 2016 Category: Pediatrics Source Type: research