Tuberous sclerosis complex is a genetic condition with an autosomal dominant pattern of inheritance, with an incidence of approximately 1:10,000, and 1:6,800 in the paediatric population, caused by a mutation of either of two genes: TSC1 on chromosome 9 (9q34) or TSC2 on chromosome 16 (16p13.3). Detailed American guidelines for cardiologists published in 2014 emphasize the vast assortment of phenotypes that may be found on tuberous sclerosis complex spectrum. The condition may manifest either very early, with foetal cardiac rhabdomyomas, observed as early as at 15 weeks of gestation, or with cardiovascular symptoms (aberrant cardiac conduction in particular) in adult tuberous sclerosis complex patients with no previous history of any such symptoms. Cardiovascular manifestations in tuberous sclerosis complex patients, apart from rhabdomyomas, arrhythmia and conduction disorders, include also rarer symptoms, such as coarctation of the aorta, thoracic or abdominal aortic aneurysms, rhabdomyositis (a rare form of cardiomyopathy), and hypertension. Echocardiography is the method of choice in the diagnosis of cardiac involvement in the course of tuberous sclerosis complex. Rhabdomyomas tend to occur between 20 and 30 weeks of foetal life. Cardiac magnetic resonance imaging can be used an alternative, and sometimes as a useful adjunct to echocardiography in the diagnostic workup of tuberous sclerosis complex. In the past 5 years, there have been some reports regarding the use of everolimus to induce prompt regression of rhabdomyomas in cases of heart failure resistant to conventional pharmacotherapy. The natural history of a vast majority of rhabdomyomas, however, is spontaneous regression within the child’s first year of life. In isolated cases, cardiac surgery is required to excise the tumours causing refractory heart failure.
Cystic fibrosis is a congenital genetically determined disorder caused by pathogenic mutations in both alleles of the CFTR protein gene. Due to its common occurrence in the European population as well as severe and chronic course, all neonates in Poland have been screened for this disease since 2009. This enables early diagnosis and specialist care over patients. The introduction of newborn screening has also resulted in distinguishing a new category of patients with the following diagnosis: cystic fibrosis screen positive, inconclusive diagnosis or CFTR-related metabolic syndrome. This group includes children with positive newborn screen results who do not present clinical symptoms suggestive of cystic fibrosis and in whom a mutation of unknown clinical consequences is detected and/or borderline sweat test results arrive in the course of further diagnosis. The prognosis in these patients is uncertain since some of them may develop symptoms of cystic fibrosis or CFTR-related metabolic syndrome at some point in the future while other may remain fully healthy. Patients with an inconclusive diagnosis of cystic fibrosis require specialist care, which enables their further observation, diagnosis or possible verification of the diagnosis and implementation of proper treatment. This strategy gradually supplements the knowledge on mutations that have uncertain clinical consequences. It is also significant that the patient’s family understand possible consequences of a cystic fibrosis screen positive, inconclusive diagnosis (CFSPID).
Assessment of the entire surface of the mucosa of the diagnosed area is one of the key factors for high quality endoscopy. This is not obtainable without special preparation for endoscopy. Nationwide educational actions dedicated to informing patients how to prepare the bowel for colonoscopy have resulted in increased rate of detected pathological structures, clinically silent precancerous lesions in particular. Special pharmacological products for adequate colon preparation are available. Endoscopists are required to assess how well the colon was prepared for the procedure and include this information in their endoscopy report. The results of such efforts are already demonstrated by the decrease in the rate of colon cancer incidence and, most importantly, mortality. However, a similar effort is lacking as regards adequate preparation for gastroscopy despite it being the most common endoscopic examination. Generally, the required preparation for upper digestive tract endoscopy is limited to fasting for four to six hours before the procedure. Assessment of mucosa visibility is not required as an integral part of the gastroscopy report. This may be the reason for the low rate of early detection of gastric cancer and the high incidence of interval gastric cancer. Detection of advanced cancer results in low 5-year survival rates, with treatment mostly relying on extensive surgery. There are many publications available on premedication with simple mucolytic and anti-foaming agents for the detection of early precancerous lesions in the stomach, the bulk of them from the Far East, where gastric preparation for upper endoscopy is a routine procedure.
Jaundice is the most common clinical symptom in the neonatal period. Free serum bilirubin levels during the first days after birth are higher than at any point later in life. Breastfeeding is associated with both increased risk and severity of jaundice. Early-onset breastfeeding jaundice is primarily a result of insufficient caloric supply and resolves gradually with the normalisation of lactation. Late-onset type, i.e. breast milk jaundice, develops after 4–7 days of life in otherwise healthy neonates and is mainly associated with the presence of an unknown factor in breast milk, which increases the enterohepatic reabsorption of bilirubin. Breast milk (late-onset) jaundice is the most common cause of persistent jaundice due to increased unconjugated bilirubin. Elevated conjugated bilirubin always indicates a pathological process and requires urgent diagnosis extension. It was believed until recently that breast milk jaundice is a mild condition, which never leads to central nervous system damage. This, however, is not entirely certain in the light of currently available scientific research; therefore it is necessary to monitor bilirubin levels. Since breast milk jaundice is a diagnosis of exclusion, it is usually preceded by differential diagnosis. In the case of breast milk jaundice, serum bilirubin levels will return to normal by 12–14 weeks of life. In the case of newborns/infants in good condition, who develop properly and gain weight systematically, supporting parents in effective breastfeeding, monitoring and regular check-ups of the child are recommended. Breast milk jaundice is not a contraindication to prophylactic vaccination.
Scientists from Oregon State University, USA, came up with the newest theory of the sixth taste – starch taste that might soon join the basic five tastes. This argument is supported by studies done on both animals and humans, the results of which seem to indicate the existence of separate receptors for starch taste, others than for sweet taste. Starch is a glucose homopolymer that forms an α-glucoside chain called glucosan or glucan. This polysaccharide constitutes the most important source of carbohydrates in food. It can be found in groats, potatoes, legumes, grains, manioc and corn. Apart from its presence in food, starch is also used in textile, pharmaceutical, cosmetic and stationery industries as well as in glue production. This polysaccharide is made of an unbranched helical structure – amylose (15–20%), and a structure that forms branched chains – amylopectin (80–85%). The starch structure, degree of its crystallisation or hydration as well as its availability determine the speed of food-contained starch hydrolysis by amylase. So far, starch has been considered tasteless, but the newest report shows that for people of different origins it is associated with various aliments specific for each culture. Apart from a number of scientific experiments using sweet taste inhibitors, the existence of the sixth taste is also confirmed by molecular studies. However, in order to officially include starch taste to the basic human tastes, it must fulfil certain criteria. The aim of the study is to present contemporary views on starch.
Hip and knee joint arthroplasty is associated with a high incidence of thromboembolic complications, with lower extremity varicose veins presumed as one of the risk factors. For a multitude of reasons, the removal of varicose veins in all patients prior to orthopaedic surgery is not achievable. This study analyses the available data regarding the impact of removing lower extremity varicose veins or failure to operate them in the group of patients requiring large-scale orthopaedic surgery. At present, there are no studies that could allow us to determine the exact conditions under which surgical management of lower extremity varicose veins prior to total hip or knee arthroplasty is necessary. Individual findings suggest that such treatment prior to orthopaedic surgery may be beneficial for patients, whilst indicating the need for further research. Researchers emphasise that at present antithrombotic prophylaxis should be applied in accordance with the existing recommendations, based on adequate risk assessment, e.g. according to the Caprini risk assessment model, where the presence of varicose veins is associated with a score of 1 point.
Aim: The study was aimed at assessing the difficulties in the diagnosis of the first episode of idiopathic nephrotic syndrome in children, based on the analysis of the initial presenting symptoms, laboratory findings and comorbidities, and evaluating the effect of the time to diagnosis on the course of the disease and its management. Material: The study included the clinical characteristics of 51 paediatric patients aged 4.89 ± 2.72 years. Factors such as the initial presenting symptoms/reason for performing urinalysis, time to diagnosis and presence of comorbid diseases were analysed. On hospital admission, clinical symptoms, laboratory findings and time to remission were assessed. Results: In 40 (78%) children urinalysis was prompted by the presence of oedema, in 11 (22%) by abdominal pain, recurring respiratory tract infections, or was performed as followup to infection. The time from onset of oedema to hospital admission was 1–60 days (median 5.5). Twenty-five children were admitted into hospital within 7 days from disease onset, 10 children – within 8–14 days, 5 children – after more than 14 days. Twelve patients had a recent history of allergy, 9 – frequent respiratory tract infections, 1 – urinary tract infections, and 2 had a family history of nephrotic syndrome. On hospital admission, 40 children presented with oedema (transudation of fluids in to body cavities was present in 27 patients), 25 – with infections (respiratory or gastrointestinal), 8 – with carious lesions, 3 – with insect stings. Laboratory testing showed nephrotic proteinuria – 303 ± 224 mg/kg/day, hypoalbuminemia – 2 ± 0.4 g/dL, mean total cholesterol level – 332.8 ± 104 mg/dL, triglycerides – 222.6 ± 95.3 mg/dL. Proteinuria resolved on average after 9 ± 5.75 days from treatment. A positive correlation has been demonstrated between the number of days that the symptoms persisted and total cholesterol level (r = 0.36, p = 0.012). Conclusions: In 37.5% of children, the diagnosis of idiopathic nephrotic syndrome is delayed, despite oedema. Seventy-one per cent of the children have been found to show signs of an acute or chronic inflammatory condition.
Ultrasound examination, as a non-invasive and safe procedure which does not require premedication, is increasingly commonly used by paediatricians. Special focus is placed on its use in early detection of cancer in children. The aim of this study was to determine how frequently and for what reason paediatricians ordered ultrasound examination as well as the outcome of the procedure. The study team conducted an anonymous survey among the parents of children attending kindergartens in the districts of Ochota and Mokotów in the capital of Poland, Warsaw. Questionnaires obtained from the parents of 336 preschool children aged 3–6 years were included in the study. By the date of the survey over 27% of children had not had any ultrasound examination and 32.44% had only one. More than half of the children (52.38%) were referred to ultrasound by a paediatrician during an office or home visit. The most common reason for the first ultrasound examination was check-up of a healthy child with no previous pathologies in a given area (41.04%). The most common location of the first ultrasound scan indicated by the respondents was the abdominal cavity (56.18%). For 254 ultrasound scans, 38 cases (14.96%) required further diagnostic investigation, specialist consultation or hospitalisation. 2.05% of scans revealed a suspected cancer lesion and 3.64% showed a congenital defect. By the date of the survey 27.16% of children had undergone other types of diagnostic imaging. 77.74% of parents would like their child to undergo annual preventative ultrasound scans. It is worth noting that it is increasingly more common for paediatricians to order ultrasound examination for healthy children as well, as a check-up. Increased parents’ awareness has also been observed.
Objective: The aim of the study was to present the biopsychosocial effects of foetal alcohol syndrome among the children from the Interventional Care Facility in Otwock in the years 2012–2015. Material and methods: We analysed medical records from the years 2012 to 2015. Medical documentation consisted of the child’s stay record, psychological diagnosis, maternal interview, social interview, a round check report, medical assessment and consultation records, neurological examination reports and physiotherapist reports. The study included medical documentation of 18 girls (29%) and 44 boys (71%). In total, 62 children aged between 3 days and 1 year were included in the study group. Results: Consumption of alcohol during pregnancy is still declared by many women (69%), including 44% of mothers consuming alcohol throughout the duration of pregnancy. All children in the Interventional Care Facility had at least 2 dysmorphic facial features. Sucking dysfunction, which caused difficulty when feeding, was observed in 59 children, and dysaesthesia – in 56 children. Children with foetal alcohol syndrome were very tearful, experienced tensions (58 children), hyperactivity (59 children) as well as sleep disorders (60 children). They frequently experienced emotional disorders (60 children) and problems with establishing contact with other people (44 children). Conclusions: It was found that alcohol has teratogenic effects on the developing foetus. Any amount of alcohol consumed by a pregnant woman can cause damage to the foetus. Foetal exposure to alcohol leads to multiple disorders that occur not only in the biological, but also in the psychological sphere. The study confirmed that children with foetal alcohol syndrome suffer from multiple health problems and have difficulty functioning in society due to their “otherness”.
Intranasal preparations with mometasone furoate are recognised to be highly efficient and safe in both adults and children. Commercially available nasal sprays are characterised by thixotropic and mucoadhesive properties – factors ensuring effortless drug dosing followed by prolonged retention time in the nasal cavity. Thixotropy and mucoadhesiveness is not a constant value and it is determined by the presence of proper excipients in the preparation’s composition. The aim of the study was to compare rheological and mechanical properties of selected nasal spray formulations with mometasone furoate. In addition, these preparations were investigated for their ex vivo mucoadhesive behaviour to the porcine nasal mucosa. These experiments revealed differences in viscosity and thixotropic properties between nasal sprays depending on the measurement temperature. All analysed preparations possessed mucoadhesive properties in ex vivo conditions. Viscosity and mechanical measurements of the analysed preparations were found to be correlated with the mucoadhesive behaviour in contact with porcine nasal mucosa. An important role of the agitation process on the formulations’ hardness and consistency was also demonstrated.
The occurrence of symptoms of nephritic syndrome in the form of oliguria, arterial hypertension, proteinuria and haematuria is routinely interpreted as acute post-infectious glomerulonephritis. The two clinically similar cases of nephritic syndrome indicate the need for a differential diagnosis in order to identify the correct condition and establish appropriate therapy. In the first case, the development of nephritic syndrome was preceded by pharyngitis that had occurred 2 weeks before. A decrease in a concentration of complement components was accompanied by an increased antistreptolysin O titre. A diagnosis of acute post-streptococcal glomerulonephritis enabled the implementation of symptomatic treatment involving diuretics and hypotensive agents. Clinical improvement was seen in the second week of treatment. In the second case, there was no correlation with an infectious episode. A decrease in a concentration of complement components was accompanied by thrombocytopenia and the presence of antinuclear antibodies. This configuration of signs necessitated renal biopsy, the results of which enabled correct diagnosis of lupus nephritis and implementation of combined immunosuppressive treatment that gave a chance for preserving renal function.
Rapidly progressive glomerulonephritis is a disease characterised by an abrupt drop in glomerular filtration rate in a short period of time, which is caused by crescent formation seen in at least 50% of glomeruli. Two cases presented below illustrate rapid progressive glomerulonephritis in adolescents as a disease of heterogeneous aetiology that can develop both in the course of primary glomerulopathies and glomerulopathies secondary to systemic vasculitis. In the first case of an 11-year-old girl, nephritic syndrome with renal failure was accompanied by the presence of anti-myeloperoxidase antibodies in the serum, which in combination with the histopathological picture of the kidneys indicating pauci-immune rapidly progressive glomerulonephritis was the basis for the diagnosis of renal limited vasculitis. In the second case of a 16-year-old boy, an adverse course of acute post-streptococcal glomerulonephritis with features of severe and persistent glomerular filtration impairment was an indication for the verification of the diagnosis and identification of rapidly progressive glomerulonephritis based on a biopsy examination. Prompt diagnosis and inclusion of combined immunosuppressive therapy provided the chance to preserve renal function.
Trichobezoar (hairball) is a foreign body typically located in the stomach, which is a collection of hair pulled out and swallowed as a result of trichotillomania and trichophagia. Its presentation usually lacks specificity, the exact constellation of symptoms correlating to the hairball’s precise location and size. The most frequent signs include epigastric pain, flatulence, nausea, bloating, dysphagia, satiety, loss of weight and halitosis. We report a case of a female patient with abdominal pain and nausea initially misdiagnosed as intestinal infestation, and subsequently, for several years, as gastroesophageal reflux. Physical examination disclosed an epigastric mass. Imaging examinations demonstrated a bezoar, and the patient was successfully treated by means of surgical extraction. The differential diagnosis of gastrointestinal symptoms, especially in young females, should account for trichotillophagia, hence the need to enquire after compulsive disorders when taking patient history. Successful removal of a trichobezoar should be followed by psychotherapy to prevent recurrence of symptoms.
Klippel–Trénaunay syndrome is a rare congenital condition characterised by a triad of symptoms: capillary-lymphatic-venous malformations, varicose veins and venous malformations as well as soft tissue and skeletal hypertrophy of the affected limb. In this article, we present a case of a 5-year-old boy with extensive vascular malformations of the lower limbs and the buttock region. In this case, manifestation of all three symptoms was gradual. At the age of 4 years, the patient was admitted to the Department of Imaging Diagnostics for further diagnosis, where the triad characteristic for Klippel–Trénaunay syndrome and popliteal vein agenesis were diagnosed. Currently, a multidisciplinary team takes care of the boy in the Children’s Memorial Health Institute. Early and accurate diagnosis allows for rapid prevention of complications associated with Klippel–Trénaunay syndrome and enables patient-tailored treatment.
Wolf–Hirschhorn syndrome is a severe genetic condition that affects many systems of the human body. The genetic mechanism is based on the deletion of the distal portion of the short arm of chromosome 4 (4p). Individuals affected by the syndrome have a special phenotype: wide bridge of the nose, widely spaced eyes, micrognathia, microcephaly, growth retardation, cryptorchidism, heart defects, hearing loss and severe intellectual disability. The patient from our case report was hospitalised at the Lviv City Children’s Hospital at the age of six hours in a severe condition, with distinctive features of a genetic syndrome, which was connected with intraventricular haemorrhage. At the age of three months, he showed delayed physical and neurocognitive development and a characteristic appearance, which led to a specialist consultation to diagnose the genetic disease. This time, on the basis of clinical, laboratory and instrumental findings, the boy was diagnosed with Wolf–Hirschhorn syndrome.
Impaired sensory processing, the so-called sensory integration disorder, occurs when the brain is unable to correctly process the stimuli coming from the internal and the external environment. Proper sensory integration allows the child for normal everyday functioning (learning, playing, resting), whereas children with impaired sensory integration often lack the psycho-affective balance. They suffer from psychosomatic disorders, which may be caused by e.g. stress due to peer competition at school. Children affected by this disorder need relaxation to regain the balance necessary for proper physical and mental development. The aim of the study is to assess the therapeutic outcomes in a 7-year-old girl diagnosed with vestibular, tactile and proprioceptive deficits. Craniosacral therapy and somatosensory integration method were used. Relaxation therapy had beneficial effects on child’s development, behaviour and the manner of communication with the environment. The hyperesthesia sites, which were present before the therapy, resolved. Previously reported self-aggressive behaviours are no longer observed. Furthermore, the child’s independence, which is crucial for the psychosocial development, also increased during the therapy.