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.     

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.     

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.     

Skala Depresji i Lęku (HADS) – zastosowanie w grupie zdrowych i chorych na mukowiscydozę nastolatków w Polsce

Introduction

Chronic disease carries the risk of emotional disorders among adolescents. It is important to observe early signs to implement treatment. One commonly used screening tool is Hospital Anxiety and Depression Scale (HADS), which has Polish adaptation for adults. Although there are publications presenting the validation of a scale for use in adolescents, in Poland this study has not yet been conducted. The aim of the present study was to evaluate the use of Anxiety and Depression Scale among Polish healthy and CF adolescents.

Methods

Anxiety and Depression Scale was examined in 142 adolescents, including 65 patients with CF in Cystic Fibrosis Centre at the Institute of Mother and Child, as well as in 77 healthy students. Scale accuracy has been verified by comparing the State-Trait Anxiety Inventory STAI and the Center for Epidemiological Study for Depression CES-D.

Results

The relatively high HADS scale reliability (Cronbach's α = 0.83) and good stability in test-retest analysis (ρ = 0.75 for the depression subscale and ρ = 0.67 for the anxiety subscale) was reported. Correlations item–scale were statistically significant and ranged from r = 0.32 to r = 0.74. χ² test showed a link between anxiety subscale HADS-A and the two subscales STAI (anxiety as a state and as a trait) and between subscale HADS-D and CES-D.

Conclusions

Our study achieved satisfactory indicators of reliability, stability and validity of the test. The test could be useful in adolescents with cystic fibrosis, due to the limited number of questions concerning the somatic symptoms that may result from the underlying disease.     

Karmienie piersią w czasie chemioterapii

The diagnosis of cancer complicates 0,02–0,1% of all pregnancies, posing a real predicament for the future mother, her family and the team of physicians. Usually it is advised to stop breastfeeding during systemic therapy. Nevertheless the emerging data evaluate recommendations about safety of lactation during chemotherapy. The benefits of breastfeeding encourage to look closely at this issue. We present the current data on the use and safety chemotherapeutic agents during lactation.     

Stężenie leptyny i omentyny-1 w surowicy eutroficznych,zdrowych noworodków donoszonych

Objective

The study of leptin and omentin-1 in adults and older children indicates on the relationship these hormones have with state of nutrition, diabetes, insulin-sensitivity and arterial hypertention. The effect of leptin and omentin on fetal growth in healthy neonates is not well known.

Aim

The evaluation of serum leptin and omentin concentrations in healthy, eutrophic full-term neonates according to their gender, anthropometric parameters and mode of mother's delivery.

Materials and methods

The study involved 79 (49 girls, 27 boys) neonates, among them 63 were vaginal born and 19 by cesarean section. Serum leptin and omentin-1 concentrations were measured between 3rd and 7th day of life by ELISA method.

Results

It was found that mean serum leptin is significantly higher in girls than in boys and serum omentin-1 concentration significantly lower in female than in male neonates. Statistically significant (p < 0.05) negative correlations between serum leptin level and body length, and between serum omentin-1 concentration and head circumference were observed. Mode of delivery had no influence on lepton and omentin-1 concentrations.

Conclusions

1) These data demonstrate that serum leptin and omentin-1 concentrations in healthy eutrophic full-term neonates are associated with their gender, leptin level with body length and omentin-1 with head circumference. 2) Birth weight and mode of mother's delivery do not have a significant influence on serum leptin and omentin-1 concentrations in full-term, eutrophic neonates.     

Stwardnienie guzowate – charakterystyka radiologiczno-kliniczna chorych leczonych w Szpitalu Wojewódzkim Nr 2 w Rzeszowie

Background

Tuberous sclerosis complex is a genetic disorder in which multiple hamartomas develop in the central nervous system and skin, as well as in internal organs such as kidneys, heart, eye bulb and lungs. Epilepsy and mental retardation are characteristic clinical manifestations. The aim of this work is to summarize types of lesions present in diagnostic imaging examinations of patients hospitalized in Provincial Hospital No. 2 in Rzeszów.

Material/Methods

In retrospective analysis we examined children who were diagnosed in Department of Radiology in Provincial Hospital No. 2 in Rzeszów in the period from 2004 to 2012. The clinical material consists of 14 children – 7 girls and 7 boys, aged 6 months–16 years. We interpreted the results of CT, MRI, US and DSA examination and evaluated abnormalities typical for TSC in different localizations.

Results

In the central nervous system we found: subependymal nodules and white matter abnormalities in 13 out of 14 children (93%), cortical tubers in 8 patients (57%), and subependymal giant cell astrocytomas in 2 boys (14%). Two types of lesions were found in kidneys, i.e. angiomyolipomas (AML) in 7 children and cysts in 5 patients. In the heart tubers (rhabdomyomas) were diagnosed with echocardiography in 6 patients. Lesions (retinal nodular hamartomas – phakomas) were also found in the eye bulb in 4 boys.

Conclusions

1.

In order to confirm the diagnosis of Bourneville–Pringle disease, brain MRI, CT and US of other organs need to be performed.

2.

The confirmation of existence of calcified subependymal nodules within supratentorial ventricular system in CT examination is typical for tuberous sclerosis complex.

3.

Detecting the presence of numerous angiomyolipomas in kidneys should implicate further diagnostic with brain imaging examination to diagnose TSC.

     

Medizinischer Kinderschutz während des Corona-Lockdowns

Monatsschrift Kinderheilkunde - Es gibt Anhaltspunkte dafür, dass die Gefahr von Kindesmisshandlung, sexuellem Kindesmissbrauch und Vernachlässigung während der strengen...     

Saccharomyces boulardii w profilaktyce biegunki związanej z antybiotykoterapią – doświadczenia własne

IntroductionSaccharomyces boulardii has documented clinical activity in the prevention and treatment of diarrhea associated with antibiotic therapy in children and adults.AimThe aim of the study was to evaluate the incidence of loose stools and/or increased their number in patients who received S. boulardii during antibiotic therapy and comparison with results of other published studies on this topic.Patients and methodsObservational data were evaluated from 130 patients aged 3 mth.–17.5 years who received S. boulardii (250–500 mg per day) during antibiotic therapy. The occurrence of loose stools and/or increased their numbers per day, which occurred de novo in the course of antibiotic therapy was analyzed. Antibiotic therapy was used in patients with upper and lower respiratory tract inflammation – the group I (n=83) and during Helicobacter pylori eradication – the group II (n=47). In group I, there were 18 infants and 65 children over 12 months. The most commonly used antibiotics for patients with respiratory tract infection (group I) were: amoxicillin with clavulanic acid (n=39) and cefuroxime (n=21). In the eradication of Helicobacter pylori amoxicillin and metronidazole were used – group II.ResultsLoose stools and/or increased their number on any day of observation occurred in 18 patients of group I (21.68%) and 6 patients in group II (12.76%), but only in 11.5% of the whole analyzed group symptoms occurred 48 hours or longer, 14.46% in group I and 6.38% in group II. The total number of days with problems in each group was: group I – 43 of 757 (5.68%), group II – 10 of 470 (2.12%). Only in 4 (3.07%) patients symptoms occurred for longer than three days. Average number of days with symptoms was: 2.38 days in the group I, 1.8 days – in group II. More often, symptoms lasting 48 hours or more was observed in treated with cefuroxime – 19.05% (n=7), than in patients treated with amoxicillin with clavulanic acid – 7.69% (n=3). In the group I loose stools and/or increased their number occurring for 48 hours or longer were more frequent in infants (27.78%) compared to children aged above 12 months of life (10.77%). There was no patient in whom antibiotic therapy was discontinued because of occurrence of loose stools and/or increase their numbers.ConclusionSaccharomyces boulardii is effective in preventing diarrhea associated with antibiotic therapy.     

Spożywanie wspólnych posiłków,wsparcie i komunikacja w rodzinie jako predyktory zdrowia subiektywnego i zadowolenia z życia nastolatków

Objective

To analyze relationships between the frequency of family meals, clear communication, support within the family and subjective health and life satisfaction of 11–15-year-olds.

Material and Methods

The study was conducted in 2012 among 319 primary and lower secondary school pupils. Young people filled the anonymous questionnaire about family meals, family relations, health and life satisfaction. Statistical analysis included partial correlations, linear regression analysis and structural modelling.

Results

The vast majority of the young people at least once a week, ate each of the main meals with their parents, 31% daily ate breakfast with their parents, and 46% – lunch and dinner. Frequency of family meals was significantly correlated with clarity of communication and support within the family. Family meals and family relationships positively correlated with subjective health and life satisfaction of young people. Frequency of eating family meals was a predictor of subjective adolescents’ health (direct and indirect relationship) and life satisfaction (indirect relationship). In both cases, support and communication within the family were the mediators.

Conclusion

Promoting family meals should be an important method of improving the quality of life of young people.     

Praktyczne aspekty postępowania lekarza w razie braku zgody opiekunów prawnych na udzielenie świadczenia zdrowotnego

A legal guardian's consent is needed to give a medical benefit to a juvenile patient. In some measure this consent substitutes the juvenile's consent. Such rule has the usage towards juveniles till they reach 16. After reaching this age both legal guardian and juvenile consent is required. In this subject in the progress of diagnostic-therapeutic treatment many problems may be found, for instance those concerning a definition of the way of the doctor's behavior when parents do not give consent for suggested medical treatment. In some situations the juvenile is allowed to make an objection by himself. There are also many cases when the matter has to be solved by the guardianship court. But when a delay could cause life threat or severe health disorder – is the doctor allowed to perform a treatment without the court's consent? This article is an attempt to solve such legal intricacies concerning treatment of the juvenile.     

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.     

Powikłania ospy wietrznej u dzieci w województwie łódzkim w latach 2001–2012

Varicella may cause serious, even life-threatening complications.     

Udział epigenetycznych i genetycznych defektów regionu 11p15 w etiologii zespołu Beckwitha i Wiedemanna

Epigenetic processes, including genomic imprinting, are important for normal human growth and development. Beckwith-Wiedemann syndrome (BWS) is a disorder characterized by pre- and postnatal overgrowth in children, abdominal wall defects, macroglossia and a high risk of tumors. BWS is caused by different molecular defects of the 11p15 region containing several imprinted genes. The genes are localized into two domains: the first one is controlled by the imprinting control region ICR1 and the second one is controlled by ICR2. Epigenetic and genetic disturbances observed in BWS include ICR1 hypermethylation, ICR2 hypomethylation, paternal uniparental disomy, deletions, duplications, translocations, inversions in the 11p15 region, and point mutations in the CDKN1C gene. In this work new findings about Beckwith-Wiedemann syndrome etiology and molecular diagnostics are presented.     

Zastosowanie nieinwazyjnych metod obrazowania do diagnostyki chorób wątroby u dzieci – opis 3 przypadków

Diagnostic process of liver diseases is based on the physical examination, laboratory findings and histological assessment of the liver biopsy specimen. The diagnosis may, however, be established by imaging techniques of the abdominal cavity using new methods that enhance standard ultrasonography, computed tomography and magnetic resonance.The aim of this study was to present chosen patients with various liver diseases, in whom the diagnosis was made by the means of non-invasive imaging techniques.These cases of patients with various liver problems – storage disease, liver steatosis and primary sclerosing cholangitis served as an example to present non-invasive imaging methods: ultrasonography of the abdomen, computed tomography and magnetic resonance as useful tools in a diagnostic process.Imaging techniques are a good alternative for liver biopsy and other invasive diagnostic methods especially with existing contraindication to the procedure or lack of consent of the legal guardians.     

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.

Bilirubin- und Steroidrebound während Austauschtransfusionen bei Neugeborenen

Zusammenfassung Während der Austauschtransfusionen bei mehr als 100 reifen Neugeborenen wurden regelmäßige Bilirubinspiegelmessungen von den Verfassern vorgenommen. Das Verhalten des Farbstoffspiegels und der Ablauf des Reboundphänomens konnten in einer exponentiellen Funktionsformel ausgedrückt werden, woraus man mittels Integration auch die Menge des aus dem Organismus entfernten Bilirubins bestimmen konnte. Das Ausmaß der Farbstoffentfernung stieg mit der Austauschmenge in geradem Verhältnis linear an. Wurde der Blutaustausch mit der zweieinhalb-bis dreifachen Menge des zirkulierenden Blutes durchgeführt, so kam sein Wirkungsgrad den Ergebnissen des mit Albumin kombinierten Blutaustausches gleich; die Verfasser sahen sich nur bei 7% der Fälle genötigt, die Transfusion zu wiederholen.Was die Werte der am Anfang des Blutaustausches eingespritzten Steroidpräparate anbelangt, überstiegen sie die auf Grund der Disappearanceuntersuchungen erwarteten Werte erheblich, bei Neugeborenen übertrafen sie sogar den Grad des Bilirubinrebound. Nach der Ansicht der Verfasser nehmen an der Erscheinung des Steroidrebound nicht nur die aus dem miscible pool stammenden Steroidmengen, sondern auch die aus dem intracellulären Raum in die Gefäßbahn rückströmenden Steroide teil.Nach einem an der Tagung der Gesellschaft der Österreichischen Kinderärzte am 16. November 1963 in Wien gehaltenen Vortrag.     

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.

Rozsiane aspiracyjne zapalenie oskrzelików w przebiegu achalazji przełyku u 9-letniego chłopca – opis przypadku

Achalasia is a rare disease in children. Diagnostic difficulties arise from nonspecific symptoms, especially in young children, and similarity to other more common clinical entities such as gastroesophageal reflux disease.