Przepuklina pępowinowa i wytrzewienie wrodzone – różnice i podobieństwa w etiologii,diagnostyce oraz postępowaniu z noworodkiem

Omphalocele and gastroschisis are the most common congenital abdominal wall defects. This article presents etiology and strategies in diagnostics and in prenatal and postnatal management in these disorders. There are similarities and differences between gastroschisis and omphalocele which are essential for correct patient management. Most abdominal wall defects are detected antenatally. Prenatal diagnosis may influence timing, route and location of delivery and it facilitates postnatal multidisciplinary approach.     

Mikroangiopatie zakrzepowe: nowe spojrzenie na patofizjologię i terapię

Thrombotic microangiopathy (TMA) is defined as process of endothelial cell damage, affecting mainly arterioles and capillaries, resulting in intraluminal thrombosis, platelet clumping, microangiopathic hemolytic anemia and occlusion of the vessel lumen. TMA encompasses hemolytic uremic syndromes (HUS) and thrombotic thrombocytopenic purpura (TTP), differentiated mainly by microbiologic tests and activity of protein ADAMTS13. Currently, four types of hemolytic uremic syndrome are distinguished: typical, atypical, secondary and idiopathic. Typical HUS is caused by bacterial toxins, mainly Shiga toxin-producing Escherichia coli (STEC-HUS). Atypical HUS develops as a result of pathologic activation of alternative complement pathway, mainly as a genetic defect. Secondary HUS includes various diseases with underlying pathophysiology causing development of microangiopathy. Idiopathic HUS is diagnosed after exclusion of other thrombotic microangiopathies and genetic defects. Thrombotic thrombocytopenic purpura results after decrease of activity of metalloproteinase ADAMTS13, which physiologically cleaves multimers of von Willebrand factor to subunits with lower procoagulation activity. ADAMTS13 deficiency can be congenital or acquired. Inherited forms are based on recessive mutations of ADAMTS13 gene. Acquired TTP are of immunological character, and appears with autoantibodies against ADAMTS13 protein. The predisposing factor for these antibodies is presence of HLA-DRB1*11 antigen. This review presents current knowledge on definitions, pathophysiology, differential diagnostics and therapy of thrombotic microangiopathies. A new perspective on targeted therapy in hemolytic uremic syndrome, based on the use of eculizumab, monoclonal antibody against C5 protein of complement pathway, is underlined.     

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.     

Stanowisko dotyczące postępowania w rodzinnej hipercholesterolemii u dzieci i młodzieży. Stanowisko Forum Ekspertów Lipidowych

Familial hypercholesterolemia (FH) is a genetic disease that causes accelerated atherosclerosis and a high risk of occurrence of cardiovascular events. Atherosclerosis in the course of FH develops insidiously and reaches an advanced stage before the onset of clinical symptoms. Homozygous form of FH occurs in the Caucasian population with a frequency of one per million, while the heterozygous form of FH in European countries applies on average in 1 person per 500. FH diagnosis is an indication to take the whole family under medical care, education, and to introduce dietary and pharmacological treatment. The aim of treatment in children with FH is to achieve more than 50% reduction in LDL level or to achieve LDL-cholesterol concentrations below 130 mg/dl and below 100 mg/dl in diabetic children. The effectiveness of low fat diet in the treatment of FH is limited. The medicaments of first choice in the treatment of FH are statins. After initiation of therapy in children, cholesterol levels and the side effects of therapy and its impact on children's development, nutritional status, degree of sexual maturity should be routinely evaluated. Familial hypercholesterolemia is a relatively common metabolic disorder, but still quite rarely recognized and not properly treated. Early diagnosis and appropriate treatment of FH in children and adolescents can significantly reduce the risk of cardiovascular disease and sudden death in adults. The purpose of these recommendations is to describe the current epidemiological situation in Poland, to establish the guidelines for identifying FH in children and adolescents and to enable the introduction of effective treatment.     

Napiętnowanie społeczne w chorobach przewlekłych

Regardless of diagnosis, chronic disease usually stigmatizes any patient. Social stigmatizing is one of the major risk factors for the quality of an individual's psychosocial functioning. Because of label of disease, patient is often ostracized. Social rejection equals a decline in mood and self-esteem. It also threatens emotional, social and intellectual growth of patients, particularly in developmental age. Limitation of peer contacts and lack of self-esteem may contribute to a loss of motivation. Such a condition often leads to discontinuation of medical recommendations. The stigma of the disease exerts a strong influence on the whole family system. Both patient's parents and siblings struggle with burden, whose negative consequences are reflected in family's and social's relationships as well as daily functioning. This paper discusses the definition, mechanism of the phenomenon, and consequences of social stigma, as well as presents literature review relating to stigmatization in the context of selected chronic diseases and family burden.     

Celiakia w polskojęzycznych publikacjach 1990–2012 – analiza bibliometryczna

Background

Lack of knowledge about the symptoms and diagnosis of celiac disease can lead to a significant delay in diagnosis. Awareness of the disease and of its common occurrence translates into increased probability of putting forward the initial diagnosis and further diagnostics.

Aim

The aim of this study was to investigate frequency and choice of scientific journals with articles in Polish about celiac disease and their comparison with literature on Crohn's disease for the last 20 years.

Materials and methods

We used an iteractive search process to identify all articles on database Polish Medical Bibliography (1979–2013) made available by Warsaw's Central Medical Library in June 2013. Articles published in the years 1990–2012, written in Polish and indexed under key words “celiac disease” and “Crohn's disease” have been searched. Distribution of articles in journals and among the authors has been analysed.

Results

462 publications were qualified to analyses with the keyword “celiac disease” and 510 with the keyword “Crohn's disease”. In years 1992–1996 articles with the keyword “celiac disease” 3-times outnumbered the works on Crohn's disease. In the first decade of the twenty-first century, a significant growth in number of scientific articles about Crohn's disease was observed. In years 2007–2011, literature on celiac disease measured by the number of publications was nearly half smaller). Ten journals with the highest number of articles with the keyword “celiac disease” posted nearly 62% of all publications related to celiac disease. Similar index for Crohn's disease was 60%. Three journals with the largest number of articles about celiac disease are notable for their pediatric focuses. The top-10 prolific authors have contributed to the creation of 55.4% of all publications on celiac disease and 34.5% of the articles about Crohn's disease were co-created by the 10 most prolific authors.

Conclusions

In the recent 10 years the number of Polish-language publications on celiac disease is invariably small. To sensibilize Polish medical professionalists to celiac disease probably may help:

(1)

greater influx of articles to Polish language journals,

(2)

selection of journals focusing not only on pediatrics and gastroenterology.

     

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).

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.     

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.     

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.     

Analiza wskazań do biopsji wątroby u dzieci w doświadczeniu referencyjnego ośrodka hepatologii dziecięcej

Histopathological examination of the liver is used to diagnose, stage, prognose and monitore many liver diseases. Indications to the liver biopsy in children may vary. Percutaneous and surgical biopsies are the most frequently performed procedures in native or in transplanted liver, in explanted and partially resected organs. The aim of this study is to review all of histopathological liver examinations performed in Children's Memorial Health Institute (the main centre of pediatric hepatology in Poland) with division of biopsy types and indications in various age groups.

Ocena zależności między stosowaniem inhibitorów pompy protonowej a występowaniem uczulenia na wybrane alergeny pokarmowe

Proton pump inhibitors are considered to be highly selective and effective drugs, which have few side effects. They are used in both adults and children (including infants) as well as in pregnant women. By increasing the gastric fluid pH, they impair the activation process and reduce the secretion of pepsin, secretin and pancreatic proteases, thereby impairing protein degradation. The remaining peptides are immunoreactive and lead to the development of an allergic response, while the increased permeability of the gastrointestinal tract mucosa may also induce sensitization. Observational studies conducted in patients with gastroenterological disorders, children with allergy diseases and experimental studies in animals have demonstrated that the use of anti-ulcer drugs favours sensitization to selected food allergens.     

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.     

Ocena występowania powikłań miejscowych w wyniku zastosowania różnych technik nieinwazyjnej wentylacji u noworodków

Objectives

The assessment of the appearance of local complications associated with the use of different non-invasive ventilation techniques in neonates.

Materials and Methods

The study was conducted in a group of 103 neonates, in whom non-invasive ventilation was administered using different techniques. In these subjects non-invasive respiratory CPAP (conventional system) support was used with single lumen nasopharyngeal cannula, double lumen Hudson type short cannula as well as the Baby Flow and the Infant Flow systems for administration of all modes of ventilation. Data were collected based on own observations and on medical records of the neonates treated in the Neonatal Intensive Care Department of the Medical University of Warsaw between 21.01.2008 and 06.05.2009.

Results

The average duration of the different non-invasive ventilation techniques was 7.77 days (min. 1 day, max. 32 days). Skin complications were mainly concerned with the nasal structures and were of varying intensity: from transient ischemia, erythema, dermal abrasion, bleeding, necrosis and narrowing of the lumen of the nasal passages (edema of the nasal mucosa). Complications associated with the use of the Baby Flow and Infant Flow systems were dependent upon the type of nasal tip. In cases when a mask was used, the most frequent type of complication concerned lesions of the base of the nose (34 cases) and lesions of the upper labial sulcus (13 cases). Complications involving the nasal septum (8 cases) were associated with the use of short double lumen nasal cannulae with the Baby Flow and Infant Flow systems as well as with Hudson type cannulae (2 cases). Necrosis of the nasal septum was associated with the use of Hudson type cannulae in two neonates.

Conclusions

The number of complications affecting the skin associated with the use of non-invasive ventilation is dependent on the maturity of the neonate, the body mass and the duration of ventilation. Complications affecting the skin are markedly more frequent in those cases when masks are used compared with the use of short double lumen cannulae, and they mainly affect the base of the nose. Undoubtedly, the majority of complications are transient in nature.     

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.     

Pieczywo z odroczonego wypieku. Badanie dostępności i składu

Aim

The aim of study was to analyze the assortment of bake-off bread in selected supermarkets and discount stores and preliminary assessment of safety of consuming bake-off products, especially in terms of pediatric.

Kwalifikacja chorych na mukowiscydozę do transplantacji płuc – doświadczenia własne

Background

Lung transplantation is a recognized treatment option for selected patients with cystic fibrosis in the end stage of bronchopulmonary disease. This is, however, a major challenge associated with the right choice of recipients proceedings before, around and after surgery, many complications and psychosocial factors.

Materials and methods

This article presents six patients aged 14–19 years who have been referred for LT from the Institute of Mother and Child. The eligibility criteria, the risk factors of death, which must be taken into account in the care of patients in the end stage of bronchopulmonary disease, were analyzed.

Results

Six patients out of 350 treated in the Outpatient Clinic of Cystic Fibrosis were qualified for the lung transplantation from 2008 to 2012. One patient died 22 months after LT, the remaining survival time is between 2 and 5 years. They are in good general condition under the strict control of transplantation centers.

Conclusions

The exact determination of the time to put a CF patient on the waiting list for transplantation is very difficult. But it is also of paramount importance to minimize mortality before and maximize survival after LT. Multidisciplinary team experienced in the treatment of CF, caring for a patient with transplant centre should make such difficult decisions. The principle of treatment of patients with CF before LT is to maximize all available and relevant aspects of care. The procedure should be tailored to the patient's needs and capabilities of the center.     

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.     

80-lecie fenyloketonurii. Część III: Charles E. Dent – biochemik-naukowiec i klinicysta,który dostrzegł piętno choroby matki u potomstwa i zrutynizował badanie profilu aminokwasów

The aim of this paper was to provide information on the first observations of maternal phenylketonuria syndrome. 60 years ago, in 1957, CE Dent's and GA Jervis's discussion of a paper by Dr MD Armstrong “The relation of the biochemical abnormality to the development of the mental defect in phenylketonuria” was published. Moreover, scientific and clinical work, as well as impressive biography of Charles E. Dent, was reviewed. Dent was always looking for new techniques and new ideas to apply to inherited errors of metabolism. He was elected Fellow of the Royal Society in 1962.Role of communications during conferences and case reports may vary according to the clinical specialty. Undoubtedly, such reports will help communicate detailed aspects of a clinical observation in rare inborn errors of metabolism.