Charakterystyka kliniczna i diagnostyka molekularna nadpłytkowości i nadkrwistości u dzieci

According to WHO classification, classic myeloproliferative neoplasms (MPN) without Philadelphia chromosome include polycythemia vera (PV), essential thrombocythemia (ET) and primary myelofibrosis (PMF). The discoveries in recent years revealed molecular causes of these diseases. These include mutations in JAK2 (V617F, exon 12), MPL and CALR genes. MPN are rarely diagnosed in children, and the molecular basis of these disorders is not well understood. In the first part of this review, we describe diagnostic criteria and therapy of PV and ET. Most cases of erythrocytosis and thrombocytosis in children are reactive and warrant a thorough differential diagnosis.In the second part of the article, we present an analysis of the clinical and molecular findings in 98 children diagnosed with polycythemia or thrombocytosis in the Department of Pediatrics, Hematology and Oncology, Medical University of Warsaw between 2007 and 2015. We present a useful algorithm for the investigation and diagnosis of thrombocytosis and erythrocytosis in children.     

Ocena stanu odżywienia i składu ciała pacjentów z mukowiscydozą

IntroductionCystic fibrosis (CF) is a chroni? multiorgan disease inherited in an autosomal recessive manner. It is mainly characterized by respiratory failure and maldigestion. The exocrine insufficiency of pancreas manifests itself in steatorrhea and leads to malnutrition and growth retardation.AimThe airm of this study was to evaluate retrospectively the physical development and the body composition of patients with CF using noninvasive methods: anthropometric traits and densitometry.Material and methodsThe examined group comprised 25 patients with cystic fibrosis (17 girls, 8 boys) aged from 15-months to 18-years-old (mean age 10 years, SD ± 67 months). Basic anthropometric traits were measured and 3 skin-folds, Mid Arm Fat Area (MAFA) also Mid Arm Muscle Area (MAMA) and Body Mass lndex were calculated. By using dual-energy X-ray absorptiometry (DXA) the Lean Body Mass (LBM) as well as bon? minera? content of total skeleton and lean body mass ratio (TBBMC/LBM) were calculated. 23 healthy children (17 boys, 6 girls) were the control group. Data standardization was mad? by using computer programme ‘gimAntropometry’. For the statistical calculations nonparametric tests were used which are available in the STATISTICA application.Results40% of patients with CF were below the 10 centile for body weight (4.34% in control's group, p=0.003). The skinfold thickness of triceps in 52% of children was below norm (vs 8.69%). Lowered index (TBBMC/LBM) was in 31% of patients with CF. The values of MAMA and LBM were reduced in respectively 31.8% and 42.1% patients with cystic fibrosis (p=0.02; p=0.001). The obtained results pointed the delayed height age in relation to calendar age in both groups, however, it was significantly bigger in CF group. Within MAFA, chest circumference and other skinfolds there was no statistic difference.ConclusionsThe deficiency of body weight, height and reduced skinfold thickness of triceps confirmed a problem of malnutrition in the disease unit. The non-invasive methods of assessment of physical development allow to estimate the progress of disease and the presumptive modification of dietary treatment.     

Sposoby oceny przez rodziców ciepłoty ciała dzieci

Introduction

There are various methods of measuring the temperature, various types of thermometers and places where the temperature can be measured. Currently electronic thermometers are the most widely used, mercury thermometers gradually becoming obsolete. A common point of measurement is the armpit, but in pediatric practice the measurement in the external auditory canal is considered to be the golden standard. Many people also assess temperature by touch, regardless of whether they have a home thermometer or not.The aim of the study was to analyze parental ways to measure body temperature, taking into account the thermometer measurements and approximate measurement.

Materials and methods

The survey was conducted on 206 people (194 mothers, 11 fathers, and 1 grandmother). The mean age of children was 24.2 months (min 2 weeks, max. 17 years, SD 37.7). The questionnaire included questions open and closed, single- and multiple-choice, and were concerning the assessment of the child's body temperature when fever was suspected. They were asked for a measurement method and the interpretation of the other symptoms of the child's fever. The results were statistically analyzed using Statistica version 6.0.

Results

The parents most often measure the temperature only using the electronic thermometer – 143 people (often in urban areas); 42 people measured fever using the mercury thermometer (more often in older children as well as in rural areas); in some cases – with several types of thermometers. Frequently temperature is measured in the armpit (in this way 90/186 people measure the temperature; more often in older children), less frequently – on the forehead (46/186 people, often younger children), rectum (40/186 people; often younger children), in the ear (31/186 people), and occasionally in other places. 115/125 people also measure children's temperature in an “orientation” way, by hand, usually on the head/forehead. For parents, other methods of assessing a child's fever are: the evaluation of the child's behavior, the change of the face expression, eyes, mouth, and a change in breathing.

Conclusions

In our study all parents use thermometers. The most commonly used are electronic thermometers, rarely – mercury thermometers. Frequently temperature is measured in the children's armpit, alternatively on the forehead, in the rectum, and the outer ear. A large number of parents additionally assess the child's body temperature by touch, and sometimes parents pay attention to other symptoms of fever.     

Nowe techniki kariotypowania molekularnego przydatne w rozpoznawaniu mikroaberracji chromosomów u dzieci z zespołami wad,opóźnieniem psychoruchowym i niepełnosprawnością intelektualną

Precise cytogenetic diagnostics (e.g. FISH) in patients harboring chromosomal microaberrations is difficult, mostly due to a manifestation of similar clinical symptoms. Possible cost of the diagnosis could be increased to an unacceptable extent which results in resignation from further analyses. However these patients might account for the large number of people in genetic counselors’ offices; therefore they demand precisely anomaly-oriented further diagnostics. These problems could be usually solved by introduction of molecular karyotyping techniques (e.g. Real-time PCR, multiplex ligation-dependent probe amplification, BACs-on-Beads™), which allow detection of different chromosomal microaberrations in a single DNA sample required for final diagnosis of genetic syndrome, and thus seem to be very useful in patients suspected of harboring such an aberration.     

Wykładniki metabolizmu tlenowego u dzieci i młodzieży z refluksem żołądkowo-przełykowym

Gastroesophageal reflux disease is a consequence of backward movement of the stomach content to the esophagus. The symptoms are caused by irritation of esophageal mucosa by acidic ingestant. Various factors cause disorders of cellular defense mechanism that lead to significant increase of oxygen-derived free radicals concentration and as a consequence to pathological damage of tissues and development of inflammation.     

Uchyłek Meckla u dzieci – ocena trudności diagnostycznych na podstawie doświadczeń własnych

Introduction

Abdominal pain is a common symptom encountered in medical practice. In some situations a diagnosis of abdominal pain requires close collaboration of a pediatrician and a pediatric surgeon, especially when the Meckel's diverticulum is suspected.

Aim of study

The aim of the study is to present diagnostic difficulties in patients suffering from the Meckel's diverticulum on the basis of own experience.

Materials and methods

An analysis was conducted on the basis of medical documentation of patients hospitalized at the Paediatric Surgery Department of the Provincial Specialist Hospital in Radom in the period from 2004 to 2011. The analysis included clinical, laboratory, imaging and endoscopic examination.

Results

The Meckel's diverticulum was diagnosed in 61 children out of 1021 patients who underwent laparotomy. It did not show any symptoms in 39 patients, but it caused abdominal pain in 22 of them. Within the group of 22 patients subject to the analysis, abdominal pain accompanied diverticulitis in 11 patients. In 9 children, Meckel's diverticulum caused mechanical occlusion of the alimentary tract whereas in 2 patients it co-existed with intensive bleeding from the lower alimentary tract.

Conclusions

A considerable changeability of clinical manifestation in patients with diagnosed Meckel's diverticulum can be observed. Interview and physical examination of a patient was of great significance in differential diagnosis of acute inflammation occurring within the abdominal cavity, which might be caused by Meckel's diverticulum. However, the final diagnosis was determined during an operation.     

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.     

Udział mleka kobiecego w żywieniu noworodków urodzonych przedwcześnie

Aim

The objective of this study was to assess methods of feeding preterm neonates during hospitalization and at NICU discharge.

Material and methods

It was a questionnaire-based observational study on the use of human breast milk in nutrition of preterm infants. The questionnaires were distributed among mothers of preterm neonates on the last day of hospitalization.The material was divided into two groups: children born before 33 weeks of gestation (group 1) and children born between 33 and 37 weeks of gestation (group 2).

Results

During hospitalization, 85% received maternal breast milk – 24% were given breast milk only and 61% were additionally fed with neonatal formula for preterm babies, whereas 15% infants received only the formula. At the day of discharge data on feeding ways were: 59% children received exclusive breast-feeding, 12% mixed-feeding (maternal breast milk combined with formula in a 50:50 ratio), 9% mixed-feeding with formula constituting over 50% of the total supply, and 20% were not breastfed at all. In group 2, during hospitalization, 84% were breastfed and the remaining 16% received formula. At the day of discharge the ratio was in favor of maternal breast milk: 95% of the infants received it. Additional analysis of ways of administering breast milk and formula were made. The results revealed that 19 mothers were breastfeeding, 4 used expressed breast milk, and 28 combined both methods. Additionally 29% children received formula: in 8 of them, i.e. a half of the studied cases, it constituted less than half of daily milk supply, while the remaining subjects received maternal breast milk and formula in a 1:1 ratio.     

Uwarunkowania środowiskowe a stan odżywienia dzieci i młodzieży województwa podlaskiego

IntroductionChildren nutritional status results from both inherited genetic predispositions and environmental factors, such as biogeographic and social and economic ones.AimThe aim of the study was to evaluate the influence of environmental factors on children and adolescents nutritional status in the Podlasie Province.Material and methodsThe study was carried out on 592 children, aged 1–14, living in the urban and rural regions of the Podlasie Province. Questionnaires and anthropometric measurements with BMI were performed.ResultsBody mass deficit was observed in 24.2% of the examined children while overweight and obesity – in 12.5%. The highest percentage of body mass deficit (32.2%) was in the youngest children (1–3 years of age) and it decreased with the age. Body mass deifcit was also stated in families with lack of money for the rent (30.7%) and for food (32.5%). The percentage of children with overweight and obesity was comparable in all age groups and was approximately 12%. The lowest, 7.0%, was in large families.ConclusionsNutritional status of the examined children was conditioned by the family status, the number of children in the family and financial deficit. The highest percentage of under nutritional children was observed in families with lack of money for the rent and food.     

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.

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).

Czy u dzieci z nadmiarem masy ciała mogą występować zaburzenia struktury i mineralizacji kości?

The aim of this study was to analyse the quality of bone, determined on the basis of ultrasound in children with excess body weight.     

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.

Zespół hemolityczno-mocznicowy u dzieci w latach 1971–2010; doświadczenia jednego ośrodka dializ dla dzieci

Hemolytic uremic syndrome (HUS) is thrombotic microangiopathy witch recognized by hemolytic anemia, thrombocytopenia and acute renal failure. In 90% of children HUS is a consequence of enteral infection caused by, most commonly verotoxin, producing Escerichia coli. In remaining 10% of cases not preceded by diarrhea atypical HUS is recognized.AimAim of the study was to assess the frequency and clinical course of HUS in 140 children hospitalized in years 1971–2010 in the Department of Pediatrics and Nephrology, Medical University of Warsaw.Material and MethodsThe patients were analyzed in 2 groups: hospitalized in years 1971–1992 (group I; n=94) and 1993–2010 (group II; n=46). The division was based on the change of mode of therapy, because since 1993 plasmaphereses have been used in the treatment of atypical and severe cases of HUS.ResultsAge of children was significantly higher in group II compared to group I (4.48±4.46 vs 1.43±1.97 year, p<0.0001). In this group also atypical HUS was diagnosed more commonly (26% vs 6.38%; p<0.02). In both groups the incidence of atypical HUS was significantly higher in winter. In treatment red blood cell transfusions and plasma infusions were used. 87% of children from group I and 56% from group II required renal replacement therapy. The result of the treatment of acute phase of the disease was recovery of normal renal function in 65.7% of children from group I and 95.6% from group II. 6.6% of children from group I and 2.2% from group II required chronic dialysis. Unfavourable outcome (death) was observed in 27.7% from group I and 2.2% from group II.ConclusionThe treatment with plasmaphereses and plasma infusions improved outcome and decreased the requirement for chronic renal replacement therapy in children hospitalized with HUS in years 1993–2010.