Hiperbilirubinemia noworodków w aspekcie polimorfizmu genu UGT1A1

IntroductionIncreasing number of screening tests is based on human DNA analysis. Diseases yet of unknown etiology prove to have an underlying genetic factor. Understanding of human genome allows improved diagnosis, better choice of farmacotherapy or more adequate lifestyle modifications. Neonate hyperbilirubinemia has been linked to UGT1A1 gene polymorphism. UGT1A1 gene encodes UDP-glucuronosyltransferase, an enzyme that catalyses the addition of bilirubin to glucuronic acid which allows its excretion. Changes in UGT1A1 gene structure are responsible for mild unconjugated hyperbilirubinemia in adults called the Gilbert's syndrome.AimThe objective of this study was to determine the frequency of UGT1A1*28 and *60 gene polymorphism in studied neonate groups as well as to establish the link in specific UGT1A1 gene mutation in neonate hyperbilirubinemia occurrence.Material and methods171 neonates born between November 2008 and January 2009 in Medical University of Gdansk Obstetrics Clinic were included in the study. Studied material included dried up blood stains.ResultsUGT1A1*28 genotype (homozygotic mutation) as well as male sex influence neonate hyperbilirubinemia. P < 0.05.ConclusionsIdentification of UGT1A1 gene polymorphism can explain the causes of neonate hiperbilirubinemia in children with no risk factors. Moreover it would allow individual treatment options. It would also be useful in patients’ development as UDP-glucuronosyltransferase is engaged in metabolism of many widely used drugs. The performed analysis justify further UGT1A1 gene polymorphism studies in Polish population and can be useful in determination of an treatment algorithm for neonates suffering from hiperbilirubinemia.     

Obserwacje kliniczne dzieci z napadami bezdechów

AimAssessment of procedur? for children under 3 years of age, referred to Emergency Department due to apnea episodes.MaterialsThe study included 23 patients with a mean age of 6 months, who presented episode of apnea with cyanosis and loss of muscle tone. 21 children were hospitalized afterwards.ResultsEight had a history of choking or vomiting during feeding. Frequent spitting up suggesting gastroesophageal reflux was observed in 5 patients, breath holding spells in 6 and 1 child was vaccinated. During hospitalization in all children laboratory test, abdominal and cranial ultrasonography, ECG and neurological examination were performed. ChestX-ray was performed in 10 patients, echocardiography in 6, 24-hours Holter ECG monitoringin 3, esophageal pH-metry in 1 and 5 patients underwent laryngological examination. Abnormal findings in blood laboratory tests included anaemia in 3 patients, hyperbilirubinemia in 2. In 9 children abnormalities of muscle tonus and delay maturation of motor automatisms were diagnosed, in 3 psychomotor development delay and 2 had abnormal EEG. 8 patients were diagnosed with respiratory or gastrointestinal tract infection. In 4 children apnea episodes recurred during the obsen/ation. All children had monitoring of vital signs. The treatment included administration of methylxanthines and CPAP in 1 patient, an antibiotics in 3, intravenous fluids infusions in 2, erythropoietin therapy in 2 and blood transfusion in 1.ConclusionThe apnea episodes in children could have multifactorial aetiology and the majority of cases require admission to hospital and broaden targeted diagnostic work-up.     

Objawy hipolaktazji występujące wśród dzieci,młodzieży i studentów szkół szczecińskich

Introduction

Adult-type hypolactasia is a physiological and genetically conditioned process, which is manifested by a regular decrease of the intestinal lactase activity from childhood to adulthood. It results in an incomplete digestion process in the small intestine, which can lead to intestinal disorders, and is diagnosed as lactose intolerance (LI).

Ocena profilu lipidowego i leptynemii u zdrowych donoszonych noworodków

IntroductionThe existence of a relation between the leptin concentration – a hormone taking part in the metabolism of the organism, and the lipids and lipoproteins seems undoubted, till now it has not yet been defined for newborns.AimThe aim of the study was to determine the value of the lipid profile parameters: ApoA, ApoB, TC, LDL-C, HDL-C, TG, albumines and leptin in healthy, full-term newborns, as well as to analyze the relation between leptin concentration and the values of the lipids parameters.Material and MethodsSerum Concentrations of TC, HDL-C, LDL-C, TG, ApoA, ApoB, albumines and leptin were assesed in the serum between 3–7 day of life 35 healthy, full term newborns with appropriate birth weight.ResultsIn female newborns significantly higher LDL-C concentration was found (p=0.03). The girls had a higher concentration of ApoA, ApoB, TC, HDL-C and leptin than boys (p=0,03). Positive correlation between the leptin serum concentrations and body weight (r=0.3681, p=0.03) and length of newborns (r=0.4714, p=0.004) was stated. Numerous correlations between the lipids parameters and a significant (p<0.5) decrease of ApoA (r = ?0.4598), TC (r = ?0.3635), HDL-C (r = ?0.3473) and LDL-C (r = ?0.3398) in serum concentrations accompanied by an increase in leptin concentrations were found.Conclusions1. The full-term healthy newborns have a significant correlation between leptin concentration and the values of ApoA, TC, HDL-C and LDL-C. 2. Newborns show a positive correlation between leptin concentration and body weight and length at birth. 3. The sex of full-term healthy newborn may be the factor modulatory the values of the lipid profile parameters.     

Wprowadzanie pokarmów uzupełniających a ryzyko rozwoju alergii

Understanding the relationship between the time of the specific foods introduction and the development of allergy could improve early prevention of atopic diseases in children. Results of studies concerning these issues are contradictory. Early introduction of foods with a high allergenic potential may decrease the risk of developing food allergy and have a role in tolerance induction. Previous approach emphasized the elimination of allergenic products whereas the current approach balances exposure and elimination or even emphasizes exposition. Mechanisms of tolerance development are not well known. It appears that the key role in tolerance development is the time and regularity of foods introduction.     

Wybrane wady rozwojowe narządów płciowych u dzieci

Issues connected with the anomalies in the genital organs are relatively rarely dealt with in paediatric debates. Congenital disorders may either result from genetic anomalies or be the consequence of exposure of the embryo to teratogenic factors.Monitoring their occurrence in a population is crucial here, as well as identifying the risk factors, prophylaxis and activities aiming at improving the medical care.The complex knowledge is provided by registers of congenital disorders, to which developmental defects in children under the 2nd year of life, defects diagnosed prenatally and in stillborn children are reported.Among female newborns, the most frequent are the anomalies of a vagina and uterus. One of the most frequent developmental defects of the reproductive organ is the congenital absence of a vagina and uterus, known as the Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. On the other hand, the most frequent defect of sexual organs in boys is cryptorhidism and hypospadiasis.The majority of defects of sexual organs is diagnosed on the basis of a physical and gynaecological examination, as well as additional examinations. A correctly made diagnosis allows both for the assessment of the need and the possibilities of treatment. The therapy of defects is an surgical treatment.     

Wpływ wczesnych zakażeń na stężenie adiponektyny i leptyny w surowicy noworodków donoszonych

Objective

Adiponectin and leptin play an important role in the children development, but the effect of early-onset neonatal infections on their values is not well known.

Zmiany stężeń waspiny i leptyny w surowicy u noworodków donoszonych z wrodzonym zapaleniem płuc

Objective

Vaspin and leptin play an important role in the foetal and postnatal development of children, which may be disturbed by infections. The effect of congenital infection on serum vaspin and leptin values is not well known.

Skuteczność antybakteryjna powidonku jodyny w próchnicy wczesnego dzieciństwa

Introduction

The generally accepted model of the prophylactic and therapeutic management of early childhood caries (ECC) and severe early childhood caries (S-ECC) does not include practices oriented to directly eliminate the causative factor: cariogenic bacteria.

Czynniki ryzyka,etiologia i wyniki leczenia zakażeń Candida sp. u noworodków hospitalizowanych w oddziale intensywnej terapii

BackgroundCandida infection develop in 6–18% of neonates with mortality rate between 22–32%.AimA 6-years retrospective analysis of mobility rate, risk factors and results of the treatment of Candida infections in newborns hospitalized in NICU.MaterialThe study comprised 80 (46 boys, 34 girls) newborns, among them 27 with ELBW, 20 with BW between 1001–1500 g, 16 with BW 1501–2500 g i 17 weighing >2500 g. Fluconazole prophylaxis was applied from third day of life in all newborns.Results113 Candida infections were noted in 80 newborns, among them 10 in first week of life, 28 between 8^th and 15^th day, 33 between 16–30^th and 42 > 30^th day of life. Eighteen types of Candida sp. were isolated, most often C. albicans (275), C. sake (25%) and C. lusitaniae (18%). Died 14 (17,5%) infants. Significant relationship between death of newborns and their fetal maturity and number of Candida infections was stated. Any significant relationship between birth weight, gender, clinical state after birth, time of hospitalization of newborns and results of the treatment was noted.Conclusions1. In newborns treated in the NICU, despite fluconazole prophylaxis, late-onset Candida infections are noted. 2. C. albicans, C. sake and C. lusitaniae dominate in etiology of neonatal invasive Candida infection. 3. Fetal maturity and number of Candida infections have significant prognostic values in newborns with Candida infection.     

Heterogenność zespołu Guillaina-Barrégo na przykładzie opisu przypadków

Guillain-Barré syndrome (GBS) is an autoimmune disorder of peripheral nervous system, heterogeneous in clinical manifestation. Basing on clinical materials, in that article authors present the following forms of GBS: Miller-Fisher syndrome, Bickerstaff's brainstem encephalitis and the pharyngeal-cervical-brachial variant.     

Torbiele szyszynki jako przyczyna objawów klinicznych z ośrodkowego układu nerwowego

Introduction

Nonneoplasmatic pineal cyst changes are quite often found during brain MRI of pediatric patients. Usually, they are asymptomatic; however, clinical signs such as headache, sight disorders, dizziness or hydrocephalia may occur.

Choroba Waldmanna jako możliwa przyczyna obrzęków u dzieci – opis przypadku

Waldmann's disease (primary intestinal lymphangiectasia) is a rare disorder of the lymphatic system, in which there are dilated lymphatic vessels, leading to leakage of lymph and protein leakage into the lumen of the smali intestine. It is characterized by lymphopenia, hypogammaglobulinaemia hypoalbuminemia. The main symptom is the swelling of the Iower limbs, but there may be generalized edema, pleural effusion, peritonitis, pericarditis. Protein-losing enteropathy usually leads to malabsorption. Her? we describe a case of 13-year-old boy with asymmetrical swelling of the extremities sińce birth, with no other symptoms, in whom the disease was suspected on the base of typical symptoms of Waldmann disease, additional work-up and a positive farmily history for intestinal lymphangiectasia, despite the lack of histopathological verification.     

Choroby wątroby i nerek w przebiegu ciliopatii

Ciliopathies constitute a group of disorders characterized by cilia abnormalities and an extremely heterogeneous clinical presentation. The liver and kidneys are the most commonly affected organs and the term hepatorenal fibrocystic disorders is used to describe ciliopathies with combined liver and kidney involvement. Liver disorders in ciliopathies can be grouped into three categories: congenital hepatic fibrosis, Caroli's disease and polycystic liver disease. Kidney disorders related to primary cilia abnormalities include autosomal dominant and recessive polycystic kidney diseases and nephronophthisis.     

Zakażenia narządów płciowych u dziewcząt – profilaktyka i leczenie

Genital infections are a frequent diagnosis in pediatric and adolescent gynecology out-patient clinics, 2/5 of which relate to girls aged 0–14 years. The course of disease ranging from symptoms and ending on the treatment depends on many factors, foremost of the infection pathogen, but also on the child's age, coexisting diseases and sexual activity. Genital infections in girls can be caused by bacteria, viruses, fungi, parasites or factors of non-communicable. The most common symptoms of vulvovaginitis in girls are vaginal discharges with different color, texture and smell, occurring in 60–90% of the cases. Diagnosis of genital infections should begin with an anamnesis. During gynecological examination of external sexual organs, the vestibule of the vagina, urethra and area around the anus should be revealed for the presence of skin lesions and absences of the defects of interior genital. In sexually active girls cervix and vaginal walls should be also revealed. Personal hygiene and supportive treatment (sitz baths, vaginal irrigation, topical soothing agents, corticosteroids, antihistamines, loose cotton underwear, preparations of lactic acid) play a huge role in the prevention of vulvovaginitis in girls. Treatment of infections should be based on the result of bacteriological testing and antibiogram, in dose adjusted to age and body weight of girl.     

Właściwości psychometryczne polskiej adaptacji kwestionariusza oceny zadowolenia rodziców z ambulatoryjnej opieki pediatrycznej

Introduction

In Poland, outpatient care has not yet been tested with validated tools. Many care providers use author's questionnaires that, which do not have their psychometric properties evaluated, which may result in misinterpretation of the expectations of patients and their parents. The use of standardized research tools is a prerequisite for obtaining reliable test results.

Ograniczenie lub pozbawienie władzy rodzicielskiej a uczestnictwo rodziców w procesie diagnostyczno-terapeutycznym podejmowanym wobec małoletniego pacjenta

This paper addresses the issues of parents’ participation in the diagnostic and therapeutic procedures, whose parental authority has been restricted or suspended or deprived of parental authority. The problems of participation in the diagnosis and therapy are discussed taking into account the right to give consent to the provision of health and the right to be informed about the health of the child.     

Autoimmunizacyjne zespoły gruczołowe u dzieci – przebieg kliniczny i klasyfikacja na podstawie analizy wybranych przypadków

Autoimmune polyglandular syndrome, APS, is characterised by the presence of two or more chronic autoimmune organ-specific diseases in one individual. There are four types of APS; however, variable clinical course often makes the proper APS-type diagnosis difficult.In this paper, we would like to present 3 patients with APS, whose diagnosis has changed over time. The first patient was a girl with alopecia and normocytic anaemia, both of which occurred when she was 9 years old. At the age of 12, an autoimmune thyroiditis was diagnosed, and antibodies against adrenal cortex were found when she turned 17. The second patient was a 10-year-old boy admitted to the hospital because of vomiting, stomach ache and stomatitis/candidiasis. He also suffered from polydypsia and decreased appetite for several days. Type 1 diabetes and Addison's disease had been diagnosed. The third patient was a 16-year-old female with acute thrombocytopenia and anaemia accompanied by Graves’ disease. Additionally, during the course of the disease, she developed symptoms of lupus-like syndrome and central facial nerve palsy.The described cases indicate that the course of the disease as well as the diagnosis of the patient with APS may change over time. Atypical development of an autoimmune disease or atypical response for standard treatment should lead to extensive diagnosis towards new elements of the syndrome. Every organ-specific autoimmune disease might be the first prodrome of APS.