Cardiovascular diseases remain the primary cause of death in developed countries, including Poland, despite the progress in their treatment and a noticeable decrease in their prevalence. For this reason, the search for biomarkers for early disease risk assessment in primary as well as secondary prevention is the main task. Growth differentiation factor-15 (GDF-15) is becoming a leader among the new protein markers with a high predictive potential for cardiovascular diseases and their complications. An elevated GDF-15 blood level is associated with an increased risk of many cardiovascular diseases, their subclinical presence and their complications, including death. The predictive strength of GDF-15 is independent of and additive to other risk factors. GDF-15 can be used as part of a multimarker strategy to improve risk stratification, although it can also be used alone for death risk assessment. GDF-15 is not heart-specific: in some cardiovascular diseases its expression can be increased in other tissues as well. Elevated GDF-15 blood levels are found in cancer. They are also observed in renal impairment. Due to the strong relationship between GDF-15 and general mortality it is sometimes called “the marker of death.” Its increase often precedes serious clinical events by many months or even years. This provides opportunities for more intensive prevention, both primary and secondary.
Sensory integration processes underlie the relationship between psychoneurological functions and learning difficulties. Adequate sensory processing is absolutely essential for the functioning and development speech in children. Sensory processing is a complex process, allowing the nervous system to receive all kinds of information provided by sensory receptors involved in sight, hearing and sense of smell as well as the less known senses of touch, proprioception (the sense of the relative position of one’s own parts of the body) and the vestibular system, which is responsible for providing the information associated with the body’s movement. Sensory processing dysfunctions may affect postural reactions, muscle tone, motor planning, emotional behaviour, development of cognitive functions and speech. They result from the failure to register sensory information, sort it, process the stimuli, and adaptively respond to them. Sensory processing therapy is one of the latest, comprehensive therapeutic methods used in children with psychomotor impairment, speech disorders and learning difficulties. Sensory integration involves organizing sensory input data processed by the brain to produce adaptive responses to the demands of the environment. Impaired sensory integration occurs when the ability of various sensory systems to register, process, integrate and modulate stimuli, and to combine the information with input received from other systems is disrupted. The aim of this study is to present the connections between sensory integration/processing and disorders in children’s functioning and speech.
Water is the basic component of the human body at all development stages. The water requirement per body weight is four times higher in infants compared to adults. The only source of water in the first months of life is human milk and/or formula. The main factors determining the choice of water for infants and children are: the total amount, type and content of dissolved minerals (mainly sodium, sulphates, nitrates and nitrites), concentration of minerals and good manufacturing practice as well as implemented and evaluated safety systems for food quality. In the case of infants and children younger than 3 years of age, spring water or low-mineralised natural water is recommended, while moderately mineralised water is allowed in children older than 1 year of age. Water cannot have any, even potential, negative effects on the child’s organism. The main health-related threat associated with water consumption (also water used for formula preparation) is microbiological, agricultural or industrial water contamination. This review presents the most important information about tap and bottled water used to feed infants and toddlers. Studies on well water have also been discussed, raising questions about the legitimacy and safety of its consumption by infants. The review presents a management scheme for water used for the preparation of infant formula as well as potential health-related risks of consuming overmineralised drinking water, water with chemical contamination or water distributed in plastic containers.
Phenylketonuria (Online Mendelian Inheritance in Man 261600) is the most common genetic autosomal recessive disease affecting metabolism. This diet-dependent condition is found in Poland in 1:8,000 live births. Its prevalence in the world (in screened populations) is estimated at 1:12,000, and every 55th individual is a carrier of the defective phenylalanine hydroxylase gene. Phenylketonuria involves the complete absence or partial activity deficit of the phenylalanine hydroxylase enzyme. The metabolic block results in the accumulation of excessive amounts of phenylalanine and its metabolites in body fluids, which leads to central nervous system injury. Adjusting nutrition to the metabolic efficiency of phenylketonuria patients determines proper psychomotor development. A low-phenylalanine diet is the referential treatment method of the classic form of phenylketonuria. Adult women with phenylketonuria in the preconception period and during pregnancy are a particular group of patients. They require a very restrictive low-phenylalanine diet as abnormal blood concentrations of phenylalanine lead to maternal phenylketonuria syndrome, i.e. foetal injury, in pregnant woman with phenylketonuria and poor metabolic control. It is therefore important that adult women with hyperphenylalaninaemia remain under close specialist care (doctors and dieticians), and that gynaecologists, obstetricians, neonatologists, paediatricians and primary care physicians are familiar with maternal phenylketonuria syndrome.
Phenylketonuria is the most common inborn error of amino acid metabolism. The defect is due to mutations in genes encoding enzymatic proteins, which result in deficient or impaired activity of phenylalanine hydroxylase, an enzyme responsible for converting phenylalanine into tyrosine. The therapy is based on an individually selected and appropriately balanced normal-protein, low-phenylalanine diet. The aim of the study was to identify and evaluate the most common difficulties in the maintenance of strict diet and to assess the objective measurable parameters indicating compliance with the low-phenylalanine diet. The study included 63 patients with phenylketonuria aged between 3 months and 44 years (mean age 12.65 ± 10.41 years), attending the Outpatient Metabolic Clinic in the Polish Mother’s Memorial Hospital Research Institute in Lodz. All patients were asked to complete an original questionnaire. The analyses showed that high costs of a lowprotein diet, poor taste of phenylalanine-free dietary supplements as well as reduced appetite due to the use of restrictive diet are the major problems faced by patients. A total of 68% of adult and 16% of adolescent patients failed to comply with the diet, as confirmed by increased serum phenylalanine levels. Young patients and their parents are more aware of the demand for phenylalanine than adult patients.
Aim: The aim of the study was to retrospectively assess diagnostic difficulties in paraspinal bone cancers as noted in the authors’ centre in 2009–2016. Material and methods: The study was performed in a group of 7 patients aged 3.5–17 years with paraspinal tumours, which constitutes 16.6% (7/42) of all children with bone cancers treated in the authors’ centre. The analysis involved: reported symptoms, time from the onset of the first symptoms to the correct diagnosis, type and stage of cancer, and treatment outcomes. Results: The most common symptom was pain in the lumbosacral region. In all cases, the first symptoms were considered to be the consequences of musculoskeletal system dysfunction. They persisted for 12–28 weeks before cancer was diagnosed. In this period, none of the children had spine radiography or any other diagnostic tests performed. The final diagnosis was determined on the basis of a histopathological examination. The most common were malignant tumours with extensive neoplastic infiltration. Two patients underwent radical surgery, and the remaining children required additional intensive chemotherapy. Moreover, proton therapy was implemented in 1 case. One patient died due to tumour progression, a patient with chondroblastoma is still being treated, and the remaining patients are in remission, but, due to tumour location, the prognosis is uncertain. Conclusions: 1) Cancer must be considered in children with recurrent back pain. 2) Plain radiography should be the basic diagnostic test. 3) Persisting back pain with normal radiography is an indication for magnetic resonance imaging or computed tomography, or for extending the range of imaging. 4) Imaging should be performed prior to rehabilitation for back pain.
Respiratory syncytial virus (RSV) is the most common pathogen causing bronchiolitis and pneumonia in children up to 24 months old. The virus infects 90% of children within the first 2 years of life, with the highest infection rates in children aged between 6 weeks and 6 months. The majority of cases occur in winter (January and February). Although RSV infection is usually mild, only 1% of children are asymptomatic. All levels of the respiratory system may be affected. Usually mild upper respiratory infections not requiring hospitalisation are observed. About 10% of infected children develop bronchiolitis. RSV infection is the cause of 17–20% of all infantile hospitalisations. Long-term studies have demonstrated a relationship between RSV and obstructive ventilatory disorders in the first decade of life. However, no clear cause and effect relationship was found in this case. It is supposed that RSV infection may only reveal the genetic predisposition to this type of response in children. The aim of the study was to analyse the course of RSV infection in a group of 71 children up to 24 months old. Attention was paid to risk factors, patient’s age, gender distribution in the study group, the number of cases in each month, laboratory and imaging findings as well as family and individual history of atopy. We also discussed the use of inhaled medications, the need for extended diagnosis and accessory testing during infection.
Aim: The study has been aimed at evaluating dietary patterns of girls aged 16–18 years old in groups identified according to measures such as their body mass index and waist-to-hip ratio. Material and methods: The study covered a total of 151 girls aged 16–18 years old from selected higher secondary schools in Biała Podlaska, Poland. Based on height, weight, waist and hip circumference measurements, body mass index was calculated for each of the participants of the study, allowing to identify two groups: group 1 with normal index and group 2 with overweight or obesity. Also, to determine the type of obesity in the overweight and obese respondents, their waist-to-hip ratio was calculated, identifying the subgroup of girls with abdominal obesity. The respondents’ dietary patterns were identified with the use of a diagnostic survey. The statistical significance of the differences between the participants with normal body mass index and the overweight and obese respondents (including those with abdominal obesity) was tested with the chi-square test. Results: Numerous nutritional mistakes/unhealthy dietary patterns were identified in the studied group, largely involving the overweight and obese girls, including those with abdominal obesity. The respondents whose body mass index and waist-to-hip ratio were too high ate fewer meals per day, skipped breakfast more frequently, had their last meal of the day later than 8 p.m., reported less frequent fish and wholemeal bread intake, as opposed to more frequent fast food, sweets and sweetened beverages intake. Conclusion: The unhealthy dietary patterns found in the population of girls with high body mass index and abdominal obesity highlight the need for education in the scope of healthy nutrition aimed both at overweight/obese individuals and their families.
PFAPA syndrome is the most common periodic fever syndrome in our geographic zone. It usually develops in children under 5 years of age and is classified as an autoinflammatory disease. PFAPA syndrome is characterised by episodes of high fever (>39°C) accompanied by aphthous stomatitis, pharyngitis, and cervical lymphadenopathy, which occur cyclically at 25–35-day intervals and last between 3 and 6 days. Patients experience no symptoms between these episodes. The disease resolves with age. The cause of PFAPA and the predisposing factors remain unknown. The paper presents a clinical case of a 2-year-old girl diagnosed in the Department of Paediatric Pulmonology and Rheumatology of the Medical University of Lublin due to recurrent fever episodes. After exclusion of other causes, PFAPA syndrome was diagnosed. Corticosteroid treatment was used and good therapeutic response was achieved. The paper also presents a literature review on the current diagnosis and treatment modalities in PFAPA.
The paper presents a case of a 13-year-old girl admitted to the Department of Ophthalmology due to bilateral vision deterioration persisting for about one month, who 9 years earlier was diagnosed and irregularly treated for hypertension. Her best-corrected visual acuity was 0.05 for the right and 0.2 for the left eye. Grade 4 hypertensive retinopathy was diagnosed based on the appearance of the fundus of the eye and significantly increased blood pressure (220/130 mm Hg). The girl was urgently referred to the Department of Nephrology for further diagnosis and treatment. Intensive antihypertensive treatment and reduction of blood pressure led to minor improvement in visual acuity. This case report emphasises the significance of periodic blood pressure monitoring in children as well as shows how serious the ophthalmological consequences of untreated hypertension can be.
Type 1 diabetes mellitus is the most common metabolic disease in childhood, which may, after years, lead to late vascular complications, including diabetic kidney disease. Microalbuminuria, which progresses to evident proteinuria, is the first sign of this disease. However, other causes, such as nondiabetic nephropathies, should be also included in the diagnosis in diabetic patients. This is particularly important in cases where disease duration by the time proteinuria develops is short, and a good control of glycemia is maintained. We present a case of a 9-year-old girl with type 1 diabetes mellitus who was diagnosed with increasing proteinuria and a developing nephrotic syndrome at 16 months after diabetes diagnosis. The histopathological picture of renal biopsy specimen corresponded to minimal change disease. Steroid therapy was initiated with simultaneous adjustment of insulin doses, which allowed for complete clinical and biochemical remission of nephropathy with maintained normal glycaemia. The girl is under the care of a diabetologist and a nephrologist. In conclusion, a coexisting nephropathy should be considered in the case of proteinuria in a child with diabetes mellitus.