Standard indices of renal function, i.e. creatinine, glomerular filtration rate (GFR) and endogenous creatinine clearance, still fail to accurately characterise disease processes in kidneys and are not sufficient for proper therapy selection, efficacy prediction and treatment efficacy monitoring for renal diseases. Therefore, markers that allow for an inexpensive, easy and reproducible kidney function assessment should be sought. Lysosomal exoglycosidases, such as N-acetyl-β-D-hexosaminidase (HEX), its isoenzymes A (HEX A) and B (HEX B), α-fucosidase (FUC), β-galactosidase (GAL), β-glucuronidase (GLU) and α-mannosidase (MAN), excreted in minimal amounts in the urine of healthy children and adolescents, yet showing a significant increase in pathological conditions, may be useful in the diagnosis of kidney disease. Such conclusions were a result of our research on the activity of lysosomal exoglycosidases in the urine of healthy children and adolescents compared to children and adolescents with hypertension, ureteropelvic junction obstruction, and congenital or acquired solitary functioning kidney, as well as based on the findings on the urinary activity of lysosomal exoglycosidases in children and adolescents with various kidney diseases, which were obtained by other authors.
Chronic kidney disease is an irreversible kidney damage caused by structural or functional renal impairment and persisting for more than 3 months. It is usually accompanied by albuminuria, proteinuria, abnormal histopathological and imaging findings as well as a drop in glomerular filtration rate below 60 mL/min/1.73 m2. Due to the increasing number of patients, chronic kidney disease is referred to as “the epidemic of the 21st century.” Early diagnosis allows for effective therapeutic intervention, which makes it possible to inhibit pathological processes and prevent disease in the future. Diagnostic difficulties in detecting early stages of chronic kidney disease are due to their asymptomatic nature and the fact that the markers widely used for renal function assessment are not very sensitive. Therefore, new, early, sensitive and specific markers of renal damage, whose introduction in everyday clinical practice would give a chance of a diagnosis at the very onset of the disease, before irreversible changes occur, are currently being sought. Although the results of scientific research are ambiguous, some of the candidate protein markers seem very promising. These include uromodulin, KIM-1, NGAL-1, NAG, FGF23, RBP4 and suPAR. The aim of the paper was to present a review of the latest research on the use of novel protein markers in the diagnosis of chronic kidney disease in paediatric and internal medicine patients.
Parvovirus B19 (B19V), which belongs to the Parvoviridae family, is one of the smallest viruses causing infections in humans. It is estimated that approximately 60% of the population will have a parvovirus B19 infection at some point in their lives based on B19V-specific antibody detection rates. The frequency of infections increases with age. Asymptomatic B19V infections are relatively common both in adults and in children. Parvovirus B19 is an aetiological factor for numerous diseases such as, for example, arthritis, erythema infectiosum, gloves and socks syndrome or haematological disorders. B19V infection is particularly dangerous during pregnancy due to the risk of maternal-foetal transmission; the estimated risk of virus transmission during pregnancy is 17–33%. The majority of infected foetuses have a good prognosis and experiencing intrauterine infection does not result in permanent sequelae; however, B19V infection during pregnancy can cause spontaneous abortion, hydrops fetalis or intrauterine death, among others; there are also single cases reported of congenital defects in the foetuses. In every pregnant woman with a suspected parvovirus B19 infection, assay of virus-specific IgM and IgG antibodies should be performed. If primary B19V infection is detected in a pregnant patient, she should be referred to a referral centre and undergo close observation with periodic foetal ultrasound examination. Children who have a history of parvovirus B19 infection during foetal life require specialist follow-up after birth. To date no specific method for B19V infection treatment has been developed. In addition, there is no vaccine against this virus.
Mirror syndrome, or Ballantyne syndrome (BS), was described for the first time in 1892 by John W. Ballantyne. It is classically defined as triple oedema: association of foetal, placental and maternal oedema. In this syndrome, a pregnant woman with hydrops fetalis reflects (as in a mirror) the signs present in the foetus and develops symptoms similar to those displayed by the foetus. Mirror syndrome is not a widely described disease, its prevalence is unknown and there are relatively few literature reports of the condition. It coexists with various pathologies of pregnancy and structural anomalies of the foetus and placenta; it may occur after viral infections during pregnancy. The pathogenesis of Ballantyne syndrome remains unexplained and there is a wide variety of clinical signs. There exist theories for the pathomechanism of the syndrome, but none of them is fully satisfactory. Mirror syndrome is potentially life-threatening and is associated with increased foetal mortality and maternal morbidity. The treatment of choice for mirror syndrome in the mother is the treatment of oedema in the foetus, as the aetiology of the condition suggests. In mirror syndrome, the prognosis for the foetus is unfavourable and many cases end with intrauterine death. The treatment of hydrops fetalis, regardless of its cause, often leads to the resolution of symptoms in the mother, and, at the same time, better prognosis for the foetus.
Non-alcoholic fatty liver disease is the most common chronic disease of the liver in children. This term encompasses a wide spectrum of disorders of liver tissue: from mild steatosis to non-alcoholic steatohepatitis; the abnormalities may eventually lead to liver cirrhosis and the development of hepatocellular carcinoma. The prevalence of non-alcoholic fatty liver disease is estimated to be approximately 25% in the general population, while the rate for the paediatric population ranges from 7.6% to as many as 34.2% in obese children. In accordance with the current definition of non-alcoholic fatty liver disease, the condition is diagnosed after steatosis has been confirmed using histopathological or imaging methods and secondary causes of liver damage have been excluded, such as alcohol abuse, the use of hepatotoxic medicines and congenital or infectious diseases. The disease is most commonly diagnosed in the population of overweight and obese children; it often coexists with insulin resistance. There are reports of the impact of genetic factors on the development of the condition. Clinical signs and symptoms are non-specific: hepatomegaly, malaise and a sense of discomfort in the abdominal cavity. Basic diagnostic investigation includes aminotransferase test and abdominal ultrasound examination. Researchers pay much attention to non-invasive diagnostic methods such as serological markers and fibrosis scores. Due to the fact that no pharmacotherapy has a confirmed efficacy in the treatment of non-alcoholic fatty liver disease, the most important prevention and treatment methods in the paediatric population are lifestyle modification, physical activity and a balanced diet. The utility of vitamin E, ursodeoxycholic acid and metformin has not been confirmed by research. Due to the high prevalence of the condition and the risk of complications, familiarity with the problem is important particularly among general practitioners.
Irritable bowel syndrome is a common and recurrent disease occurring at all geographical latitudes. The prevalence in the northern hemisphere is estimated at 11%, with more women affected than men (2:1). The symptoms usually develop in the third or fourth decade of life. The aetiology of the disease is complex and not fully explained. Genetic factors, gastrointestinal motor dysfunction, visceral hypersensitivity, psychological stress and intestinal infections are believed to contribute to the etiopathogenesis. Irritable bowel syndrome reduces life quality and work productivity as well as is a considerable financial burden for both health care system and patients themselves. Despite its arduous course, it does not lead to the development of a serious disease with excessive mortality. Irritable bowel syndrome is characterised by recurrent abdominal pain related to defecation, change in bowel habits and/or stool consistency. The diagnosis of irritable bowel syndrome is currently based on the Rome IV diagnostic criteria published in 2016. These criteria are the latest update of the diagnostic criteria for gastrointestinal functional disorders now defined as disorders of gut–brain interaction. Irritable bowel syndrome is currently defined as abdominal pain that has occurred on average at least 1 day per week during the previous 3 months, which meets at least 2 of 3 criteria: 1) is related to bowel movement, 2) is related to a change in stool frequency, 3) is related to a change in stool consistency. The paper presents the main changes introduced in the Rome IV criteria, their rationale and implications for clinical practice.
Cushing’s disease is excess cortisol level due to increased adrenocorticotropin secretion from pituitary adenoma. Incidence rate is 2–3 cases per year and the prevalence is 40 per 1 million people. It affects mostly young adults with high prevalence in women (incidence rate is 3–8 fold higher than in men). Cushing’s disease can generate metabolic and cardiovascular complications. Aim: The aim of this paper was to estimate the incidence of cardiometabolic complications, such as hypertension, diabetes, prediabetes, overweight and obesity and their relationships with age, sex and body mass index. Material and methods: A total of 79 presurgical patients with Cushing’s disease were enrolled. All patients were examined and their medical documentation was thoroughly analysed with special regard to demographic data, the underlying disease and concomitant diseases (especially diabetes, prediabetes, hypertension, overweight and obesity). Results: Mean body mass index (BMI) was 31.07 ± 6.97 kg/m2. Obesity (BMI ≥30 kg/m2), overweight (BMI 25–30 kg/m2) and normal body weight were reported in 37 (46.8%), 29 (36.7%) and 13 (16.5%) patients, respectively. Diabetes and prediabetes were diagnosed in 27 (34.2%) and 29 (36.7%) patients, respectively. The remaining 23 (29.1%) patients had normal glucose levels. Hypertension was confirmed in 64 of 79 (81%) patients; 15 (19%) patients had normal blood pressure. Conclusions: Complications like high BMI, impaired glucose metabolism and hypertension were diagnosed in the majority of patients: 66 (83.5%), 56 (70.9%) and 64 (81%), respectively. The risk of these complications increased with age.
Aim: Small bowel intussusception is an increasingly prevalent condition reported in paediatric patients. The aims of the study were to characterise a group of patients with ultrasonographically confirmed intussusception, and review the therapeutic approach used in each case. Material and methods: This retrospective cross-sectional study enrolled a total of 40 children treated at a paediatric hospital who had been diagnosed with small bowel intussusception on the basis of ultrasound examination findings. Results: 80% of children had a single-site small bowel intussusception, and 20% of patients – a double-site intussusception or a small bowel intussusception coexisting with ileocaecal intussusception. The children presented with uncharacteristic symptoms such as abdominal pain, diarrhoea, vomiting and fever. The majority of cases (87.5%) were patients referred from the hospital accident and emergency department. More than half of the intussusceptions (55%) were found in children between 2 and 5 years of age, slightly more frequently in boys than in girls (22:18). Most of the intussusceptions (56%) were located in the middle abdomen. 66.6% of the intussusceptions were <30 mm in length. Only 6.67% of children required laparotomy. In the remaining cases, it was possible to achieve reduction of intussusception by using conservative treatment. The intussusception resolved already during the first ultrasound examination in 12.5% of children, and in only 27.5% of patients it was also present during the second scan which was performed at least 4 hours later. Conclusions: Intussusception length is one of the most important parameters determining the type of treatment to be used. Surgical reduction may be necessary in cases of small bowel intussusception with a length of ≥35 mm. Each case should be considered individually, and follow-up ultrasound scans should be performed not only after detecting small bowel intussusception, but also immediately before surgery.
Aim: The aim of the study was to retrospectively assess cases of intentional dextromethorphan intoxication which were the reason for admissions to the Department of Paediatrics and Gastroenterology at the Medical University of Lublin between 2008 and 2017. Material and methods: We analysed medical records of patients hospitalised due to intentional dextromethorphan intoxication in the Department of Paediatrics and Gastroenterology at the Medical University of Lublin between 2008 and 2017. Results: Dextromethorphan poisoning was the reason for 55 hospital stays. The number of hospital stays due to dextromethorphan intoxication during subsequent years was as follows: 2008 – 3, 2009 – 4, 2010 – 8, 2011 – 7, 2012 – 7, 2013 – 11, 2014 – 3, 2015 – 9, 2016 – 1, 2017 – none. The analysis included as many as 47 girls (85.4%) and only 8 boys (14.6%). The age of patients ranged between 11 years and 11 months to 16 years and 3 months. There were 47 (85.4%) urban and only 8 (14.6%) rural children. Concusions: The observed drop in the number of deliberate dextromethorphan intoxications from 2016 onwards may be due to the limited availability of the drug resulting from a change in the Polish law. Intentional dextromethorphan intoxications are most common among girls, adolescents aged between 13 and 15 years and urban residents. Family and school education on the harmful effects of psychoactive substances should play a particularly important role in the prevention of psychoactive substance abuse.
Early diagnosis of cancer is essential for the choice of appropriate therapy, and thus the chance of recovery. Parents play a crucial role in detecting the first signs of cancer in their children. The aim of this study was to assess parental knowledge on the early signs of leukaemia and to increase their cancer vigilance. A survey was conducted among 327 parents of 3–10-year-olds in two Polish towns: Nowa Sól and Nowe Miasteczko as well as on the Internet. Parents were asked about their responses to potential signs of leukaemia. The obtained data were analysed, considering parental education and gender, child’s health status and place of residence. A total of 98% of respondents were able to provide a correct definition of leukaemia. Enlarged lymph nodes, fever, cough, headache and vomiting are the most common reasons for medical appointments. Pale skin, fatigue and apathy were a group of symptoms that did not raise parental concern. Up to three-quarters of parents associated limb pain with the process of growing, and only 7% – with cancer. It was found that parents with at most secondary education reported to the doctor due to alarming symptoms more often than those with higher education. Women were more perceptive of suspicious symptoms than men. Parents of chronically ill children are more perceptive of extravasations, fever and bruises. Although leukaemia is not a taboo, its potential symptoms do not raise parental oncological vigilance. Women, parents of chronically ill children, parents without higher education and medical graduates show the highest vigilance in childcare. The presented data indicate the need for parental education on the first signs of cancer.
Aim: The goals of this study were to analyse STAT1, STAT2, STAT3 and STAT5 gene expression profiles in psoriatic arthritis patients in comparison to healthy volunteers (control group) and to determine a potential role of methylation in the regulation of the expression of these genes. Material and method: The material for the determination of the microarray expression profile of the analysed genes was full blood obtained from psoriatic arthritis patients and healthy volunteers. The molecular analysis involved the following stages: RNA extraction, qualitative and quantitative analysis of the extracts and a microarray experiment. The determination of CpG islands was performed using bioinformatic tools: NCBI Reference Sequence and MethPrimer (plus CpG Island Prediction). Results: The analyses were performed using the PL-Grid infrastructure (www.plgrid.pl) with GeneSpring 12.6.1 (p < 0.05). There were differences in the expression profiles of the analysed transcripts between psoriasis patients and controls: STAT1 (FC = +2.88), STAT3 (FC = +2.09), STAT5 (FC = +1.62) and STAT2 (FC = −3.60). For each of these genes, at least one CpG island was detected in the nucleotide sequence. Conclusions: There was an increase in the expression of the analysed genes, except for STAT2, in patients with psoriatic arthritis compared to controls. The results indicate that the expression of these genes may be regulated by DNA methylation. When analysing the methylation pattern, the heterogeneity of cell populations that make up the tissue must be taken into account. Learning about the molecular mechanisms will enable development and implementation of new strategies in pharmacotherapy.
Introduction: Crying and anxiety in an infant are not only a defence reaction informing of a health problem, but also a signal of hunger, fatigue or difficulties falling asleep. There are many methods of reducing a child’s adaptation problems. Various positions, breastfeeding, rocking and contact with the mother’s skin are used. Currently, white noise-emitting devices are increasingly popular. White noise consists of monotonous sounds without volume changes, similar to the sounds of nature (rain, the sea), heard by the child during foetal life (the hum of large maternal blood vessels), which has a calming effect and masks the sounds of external environment. Aim of the study: The aim of the study was to assess the motives, efficacy and correctness of the use of white noise-emitting devices. Material and methods: A survey was conducted among 580 parents who used white noise-emitting devices (Szumiś, Whisbear, applications on personal electronic devices). The survey collected data on the parent population, the prevalence of the method, the reasons for choosing this method to relieve the child’s problems, the device’s efficacy and manner of use and users’ awareness of potential hazards associated with incorrect use of such devices. Results: The results indicate a widespread use of white noise-emitting devices for helping children fall asleep and reducing their anxiety or colic pain, particularly in infants. Parents made a frequent use of these devices and left them switched on for a long time in close proximity to their children. They did not notice any negative effects of their use and would recommend them to other parents. Conclusions: White noise-emitting devices may be helpful in taking care of a restless child. However, they may be recommended by medical professionals provided that they comply with appropriate technical criteria and the rules for their use have been established considering the unknown long-term impact of such devices on the child’s development.
Primary acute glomerulonephritis is a disease of the glomeruli with a sudden onset. It is caused by the presence of immune complexes following group A beta-haemolytic streptococcus infection. This is usually due to a streptococcus infection of the throat or, less commonly, of the skin. The main signs of the disease include oedema, hypertension and erythrocyturia. Systemic symptoms can also develop such as malaise, nausea and vomiting. In a severe form of the disease, transudation of fluid to body cavities occurs and renal failure develops requiring dialysis therapy. In this paper, we present an atypical case of a 9-year-old patient with acute glomerulonephritis associated with bacterial superinfection of eczema herpeticum.
Aim: Presentation of leptospirosis as a cause of acute renal failure. Leptospirosis is an infectious zoonosis caused by the pathogenic spirochetes of the genus Leptospira, typically Leptospira interrogans. The main reservoirs of Leptospira are rodents, wild animals, dogs, cats, pigs, domestic cattle and horses. The primary source of infection is exposure to water, soil or plants contaminated by the urine of infected animals. The clinical picture of leptospirosis ranges from a mild disease with non-specific (flu-like) symptoms to a severe form with liver and kidney failure, impaired consciousness and meningitis. The case report presents leptospirosis with acute renal failure in a 17-year-old boy. Due to the fact that prior to the development of the disease the boy stayed in a country where leptospirosis is endemic (Thailand), a suspicion of the disease was raised, and subsequently confirmed serologically by an immunoenzymatic test. Conclusions: The diagnosis of an imported disease, including leptospirosis, should be taken into consideration in patients with flu-like symptoms accompanied by acute renal or hepatic failure who have a history of recent travel to tropical areas.
A 6-year-old girl was admitted to the Department of Paediatrics for the diagnostic work-up of a condition presenting as fever accompanied by headaches, nausea and vomiting. Approximately 4 weeks before hospital admission the child was bitten by two ticks. Five days later, fever and general ill-feeling developed, and the girl was diagnosed with a viral infection. After 12 days, fever recurred, and the child’s condition worsened. The diagnostic work-up included lumbar puncture. Neuroborreliosis was excluded, and meningitis caused by the tick-borne encephalitis virus was diagnosed. The prevalence of tick-borne encephalitis in the general population is estimated at 0.51 case per 100,000 people. In most cases, the disease has a mild course. Serious complications develop in 25–50% of patients, and the mortality rate reaches 5%. Since approximately 40–50% of patients with laboratory-confirmed presence of the virus causing tick-borne encephalitis do not report being bitten by a tick, clinicians should consider the possibility of encountering the disease in their practice. Tick-borne encephalitis carries the risk of serious complications. There is no causal treatment available once infected, but the disease can be prevented by vaccination, with efficacy exceeding 95%.
Anaemia is a common manifestation in paediatric patients. The most common cause of anaemia is iron deficiency. In differential diagnosis not only the most common diseases resulting in haemoglobin decrease should be considered, but also those less common. In an outpatient care physician’s practice, interview, physical examination and routine periodic preventative examinations play a very important role. They make it possible to detect chronic diseases, including congenital metabolic diseases. These include osteopetrosis, which manifests with impaired haematopoiesis. Osteopetrosis also causes stunted growth, bone deformation and neurological disorders. We present the case of a boy with diagnosed osteopetrosis, in whom anaemia was the first manifestation of the disease.
Acute pancreatitis is a common surgical emergency with a variety of aetiologies. Hypertriglyceridaemia is considered as one of the causes, especially in elevated triglyceride levels in the absence of other culprits. However, it rarely occurs in combination with oral contraceptives. We present a case of a 35-year-old woman with acute pancreatitis caused by oral contraceptive-induced hypertriglyceridaemia. This case report highlights the importance of considering rare side effects of oral contraceptives, which are commonly used by women at childbearing age. Proper clinical history and evaluation with measurements of fasting serum lipid profile in high-risk patients will help explain the aetiology of pancreatitis to avoid further morbidity in the future.
Acute invasive fungal rhinosinusitis is a rare sinonasal infection. It usually occurs in immunocompromised patients. The presentation of acute invasive fungal rhinosinusitis with disseminated fusariosis mimicking varicella zoster cutaneous lesion is extremely rare in otorhinolaryngology practice. The morbidity and mortality rates in immunocompromised patient are high and determined by proper management of the disease. Therefore, appropriate investigation and management are very important. We describe a case of acute invasive fungal rhinosinusitis with disseminated fusariosis in a child presenting with cutaneous lesions mimicking varicella zoster associated with nasal pain and eschar. This report also emphasised the important role of an otorhinolaryngologist in the early diagnosis and management of acute invasive fungal rhinosinusitis.
Although open tracheostomy is considered a relatively safe procedure in otorhinolaryngology, it is not without complications. One of the rare complications of tracheostomy is retropharyngeal emphysema. A 53-year-old woman with bilateral vocal cord palsy underwent emergent open tracheostomy and postoperatively developed violent coughing, tight jaw during chewing, mild neck pain as well as an abnormal sensation of “small bubbles popping underneath her skin.” Careful palpation of the neck revealed crepitus, and lateral cervical radiograph showed extensive subcutaneous emphysema and retropharyngeal air column. A combination of vigorous cough and tight peristomal sutures of the tracheostomy wound was believed to have caused this complication. Conservative management by peristomal suture removal led to near resolution within two weeks.
Aim: The article aims to describe the technique of designing and fabricating ear prosthesis with the integration of computeraided design and computer-aided manufacturing (CAD/CAM) versus a conventional method. Background: The use of rapid prototyping for prosthesis fabrication preceded by the generation of ear prosthesis design utilising the computed tomography data of the patient are recent advance technologies. Case description: A 6-year-old boy came with congenitally missing right ear. The healthy left ear was mirrored and printed using the 3-dimensional (3D) printer. Since there was a tissue remnant on the affected side of the patient’s ear, the printed ear model was copied in wax. The incorporation of CAD/CAM eliminated the conventional technique involving impression taking of normal ear as a model. Thus, fabrication procedure was simplified, ensuring rapid production. Conclusion: The dimension, shape, and anatomic contour of the ear prosthesis were quite similar to those of the normal ear. This outcome suggested that using the CAD/CAM system to fabricate ear prosthesis from computed tomography data is a practical technique which can be used in a clinical setting. Clinical significance: Rapid prototyping techniques used in this case gave the highest possible level of accuracy in size, shape, and position of the prosthesis. It also decreased the patient appointments and fabrication time compared to the conventional technique.