2017, Vol 13, No 4
22q11.2 microdeletion syndrome as a multidisciplinary problem
Pediatr Med Rodz 2017, 13 (4), p. 439–449
DOI: 10.15557/PiMR.2017.0047

22q11.2 microdeletion syndrome, known also under the name of DiGeorge syndrome, is the most frequent deletion in the human chromosome. Its prevalence is estimated at about 1:9,700 newborns, but this is probably an underestimation. In over 90% of cases, the disease is caused by de novo microdeletion in the long arm of chromosome 22, and more rarely by microdeletion of the short arm of this chromosome or by a gene TBX1 point mutation. The consequences of these genotypic disorders are developmental anomalies of the third and fourth pharyngeal arches during the foetal life, which leads to abnormal development of the thymus, parathyroid glands and major cardiac vessels. The characteristic triad of symptoms includes a cardiac defect, hypocalcaemic tetany (hypoparathyroidism) and immunodeficiency. The syndrome may also manifest as facial dysmorphia, palate defects, gastrointestinal abnormalities, urogenital malformations, autoimmune diseases and psychiatric disorders. Standard tests to diagnose this syndrome are molecular studies, such as fluorescence in situ hybridization, array comparative genomic hybridization and a type of polymerase chain reaction: multiplex ligationdependent probe amplification. The therapy of DiGeorge syndrome may include: calcium supplementation, surgical correction of cardiac and palate defects, treatment of immunodeficiency by injections of immunoglobulins, stem cell transplantation or, in rare cases, thymus transplantation. The management of DiGeorge syndrome requires a multidisciplinary approach. Early diagnosis and treatment significantly improve patient’s chances for normal functioning in adult life.

Keywords: microdeletion, cardiac defect, hypocalcaemic tetany, immunodeficiency
Diuretics in heart failure – rationale for use in heart failure
Pediatr Med Rodz 2017, 13 (4), p. 450–459
DOI: 10.15557/PiMR.2017.0048

Heart failure is an epidemic of ageing 21st century societies. Despite wide access to modern treatment strategies, many cardiovascular diseases eventually lead to its development. Especially increased survival after acute coronary syndrome contributes to the growing number of patients with heart failure. Despite the use of optimal pharmacological treatment and therapeutic support devices (i.e. cardiac resynchronisation), heart failure manifests in a number of exacerbations, often requiring hospitalisation. The most common cause of symptom exacerbation is volume overload, which might result from disease progression, comorbidities and patient non-compliance, e.g. regarding drug withdrawal or dose reduction. Moreover, each hospitalisation deteriorates prognosis. It is therefore important to optimise pharmacological treatment to improve both survival and symptoms. The main group of symptom-relieving drugs in heart failure are diuretics, which relieve congestionrelated symptoms, improve the quality of life and reduce the risk of further hospitalisations. However, they do not affect prognosis. Moreover, they are not free from limitations, and the desired effect of dehydration can be associated with adverse effects, i.e. impaired renal function. It is therefore important to use the lowest possible doses, sufficient to maintain euvolaemia. The aim of this paper is to summarise the current knowledge concerning the safe use of diuretics, based on the understanding of their mechanisms of action and rules of application in various phases of the disease.

Keywords: heart failure, renal failure, creatinine, diuretics
The role of the primary care physician in early diagnosis of periprosthetic joint infection
Pediatr Med Rodz 2017, 13 (4), p. 460–469
DOI: 10.15557/PiMR.2017.0049

Hip and knee replacement is a common procedure in the treatment of advanced arthropathy. It relieves pain and restores joint function. That is why the number of arthroplasties is continuously increasing. In view of the growing number of patients with endoprostheses, shorter hospitalisation after the surgery, problems with availability of specialists and an increasing role of primary care physicians, family doctors need better knowledge of the most severe postoperative complication, i.e. periprosthetic joint infection. The diagnosis of chronic periprosthetic infection is a complex and challenging problem. The symptoms of early postoperative infection or acute haematogenous periprosthetic infection should be diagnosed as soon as possible as proper treatment preconditions full recovery with implant preservation. Delayed diagnosis and failure to apply early surgical intervention change the treatment algorithm and which frequently entail prolonged multi-stage treatment. If early periprosthetic joint infection is suspected, the best decision is to urgently refer the patient again to the hospital where the surgery was performed. In this case, antibiotic therapy is vital; however, if it is instituted without proper indications, it cannot warrant recovery and blurs the picture of the disease. Before antibiotics are administered, an attempt at confirming the inflammation should be made and the responsible pathogen isolated so that targeted antibiotic therapy can be implemented. Early antibiotic administration makes it much harder to isolate the pathogen responsible and increases the number of multidrug resistant strains. The treatment of periprosthetic joint infection is always based on surgery combined with targeted antibiotic therapy. Prompt diagnosis and proper surgical management offer chances for the patient’s recovery and normal functioning. Orthopaedic surgical procedures are usually scheduled. Proper patient preparation, consisting in the stabilisation of systemic diseases, their proper control and elimination of systemic inflammatory foci, is crucial in the prevention of periprosthetic joint infection.

Keywords: periprosthetic joint infection, diagnosis, antibiotic therapy, postoperative management, primary care physician
Postural defects and speech disorders
Pediatr Med Rodz 2017, 13 (4), p. 470–478
DOI: 10.15557/PiMR.2017.0050

The human body is a structure in which each part is closely related to the other. This chain of interdependence should contribute to a holistic view of a human being and a perception of a disease as a potential consequence of other body dysfunctions rather than an independent entity. Only such a therapeutic approach can produce positive effects. This overview shows the importance of proper body posture and its significant effects on the stomatognathic apparatus and speech in a child. The paper consists of three parts followed by a discussion. The first part presents the aetiology of postural pathologies and a brief characteristics of selected postural defects that are most common among children and adolescents. The second part focuses on the correlations between postural disorders and malocclusions in children. Data derived from literature and research indicate significant effects of postural disorders on the human stomatognathic system. The third part presents a brief description of malocclusions and their effects on defective articulation of sounds. A list of defective consonant phonemes in different types of malocclusion is presented in the form of table. The discussion summarises the work and further expands the subject by presenting the indirect effects of postural defects on the speech in children and adolescents. The study highlighted the importance of early corrective intervention in postural defects to prevent the development of further body dysfunctions, such as defective articulation or other malocclusion-related deficits. An interdisciplinary approach supported by multidisciplinary compensatory measures is important in children with speech disorders coexisting with malocclusion.

Keywords: speech defects, body posture, occlusion
Hypothyroidism in children
Pediatr Med Rodz 2017, 13 (4), p. 479–490
DOI: 10.15557/PiMR.2017.0051

Thyroid hormones are crucial for normal development of a child from early foetal life. They have an impact on the development of the central nervous system, both prenatally and up to the age of 3 years, and regulate growth and most metabolic processes. Their importance has led to the introduction of screening for congenital hypothyroidism, which has been conducted in Poland for over 40 years. The diagnosis of congenital hypothyroidism necessitates immediate levothyroxine implementation and strict treatment monitoring. Thanks to iodine prophylaxis, children in Poland do not require additional iodine administration. An isolated increase in thyroid-stimulating hormone concentration without clinical signs of hypothyroidism and with negative antithyroid antibodies does not require treatment, but only monitoring of thyroidstimulating hormone levels. Children with positive antithyroid antibodies, genetic syndromes that predispose to hypothyroidism and history of thyroid irradiation require more frequent controls. The recommendations for suspected hypothyroidism presented in this article are based on the European Thyroid Association guidelines from 2014 on the management of subclinical hypothyroidism in children and pregnant women.

Keywords: hypothyroidism, hormones, development, cretinism, screening
Diagnosis of thyroid tumours in Świętokrzyskie Province in Poland with respect to the regulations provided in the new oncological package
Pediatr Med Rodz 2017, 13 (4), p. 491–497
DOI: 10.15557/PiMR.2017.0052

Introduction: The new regulations called the “oncological package” were implemented in Poland on 1 January 2015. The issuance of the Diagnosis and Oncological Treatment Card initiates a path of rapid diagnosis and therapy. The new regulations also encompass the diagnostic process in suspected thyroid carcinoma, which is the leading endocrine gland cancer. In 2014, 162 new cases of thyroid cancer were noted in Świętokrzyskie Province in Poland. Before the rapid diagnostic procedure is implemented, the risk of malignancy must be evaluated, which is of particular importance in the case of suspected carcinoma of the thyroid gland due to the great prevalence of benign thyroid nodules. The risk of thyroid carcinoma is evaluated by the analysis of the medical history and proper interpretation of ultrasonographic images of focal lesions. Aim: The aim of this study was to analyse the knowledge of primary care physicians about clinical and ultrasonographic features of high-risk thyroid tumours and to assess whether the Diagnosis and Oncological Treatment Card is used correctly for initiation of a rapid diagnostic process in patients with suspected thyroid carcinoma. Material and methods: The analysis involved the results of thyroid ultrasound scans and medical history data collected during the first visit from all patients who, in the period from 1 January 2015 to 30 September 2016, were referred to the Department of Endocrinology of Świętokrzyskie Oncology Centre with the Diagnosis and Oncological Treatment Card issued by a primary care physician due to a suspicion of thyroid cancer. The authors evaluated the presence of clinical or ultrasonographic features of high-risk thyroid tumours. The analysis involved records of 95 patients. Results: None of the patients presented clinical features of thyroid carcinoma. The phenotype of focal lesions represented high-risk features in merely 21% of the patients; the most common ultrasonographic feature was hypoechogenicity (70% of patients). Oncological diagnostic procedures (fine-needle aspiration biopsy) confirmed a malignancy in only 1 case; it was a patient with high-risk ultrasonographic features (1/20 patients – 5%). None of the patients with a benign phenotype was diagnosed with thyroid carcinoma. Conclusions: 1) The Diagnosis and Oncological Treatment Card is not used properly by primary care physicians in the diagnosis of thyroid lesions. 2) When issuing the Diagnosis and Oncological Treatment Card, primary care physicians do not use the knowledge about clinical or ultrasonographic features that suggest a high risk of malignancy.

Keywords: oncological diagnosis, oncological package, Diagnosis and Oncological Treatment Card, thyroid cancer
Children with monosymptomatic primary nocturnal enuresis – the clinical profile of patients during the first nephrological consultation
Pediatr Med Rodz 2017, 13 (4), p. 498–506
DOI: 10.15557/PiMR.2017.0053

Introduction: Nocturnal enuresis can be diagnosed in a child older than 5 years of age who involuntarily discharges urine in the wrong time, i.e. at night, and in the wrong place, i.e. in bed. Aim: The aim of the study was to analyse the profile of patients who consult the specialist physician with monosymptomatic primary nocturnal enuresis. Material and methods: The data were collected from a questionnaire completed by guardians of children during the first nephrological consultation. The questions concerned the following: family history of nocturnal enuresis, bedwetting intensity, other urinary tract symptoms, a voiding chart and fluid intake record, number of nocturnal enuresis incidents in 14 days, episodes of nocturia, nocturnal diuresis volume, urinary urgency volume and constipation. Moreover, basic anthropometric measurements were taken. The data were analysed and the following values were calculated: average voided volumes, maximum voided volumes, voided volumes before 5 p.m. and 24-hour diuresis. An analogous analysis was conducted with respect to fluid intake. Results: Most patients were males. The family history of nocturnal enuresis was positive in ⅓ of patients. Approximately ⅓ of patients tended to drink fluids directly before bedtime. The number of patients with sporadic nocturnal enuresis (23–45%) was comparable to the number of patients with frequent nocturnal enuresis (28–55%). Nocturnal diuresis suggested nocturnal polyuria in 11 patients (21.6%). Decreased functional bladder capacity was found in almost ¼ of patients (12–23.5%). Conclusions: Monosymptomatic nocturnal enuresis is more common in boys. The family history was positive in ⅓ of patients. Patients and their guardians are not aware of fluid intake restrictions at bedtime. The frequency of nocturnal polyuria and decreased functional bladder capacity is comparable in the investigated patients.

Keywords: monosymptomatic nocturnal enuresis, children, urotherapy, treatment, diagnosis
The effects of adenotonsillotomy on nocturnal enuresis in snoring children
Pediatr Med Rodz 2017, 13 (4), p. 507–513
DOI: 10.15557/PiMR.2017.0054

Introduction: Nocturnal enuresis is a common problem in the paediatric population. A number of reports indicate that there is a relationship between sleep-disordered breathing in children with tonsillar hypertrophy and nocturnal enuresis. Restoration of nasopharyngeal patency may eliminate nocturnal enuresis. Aim: The aim of the study was to evaluate the incidence of nocturnal enuresis in children snoring due to nasopharyngeal lymphatic tissue hypertrophy as well as to assess the effects of restored upper respiratory patency by means of adenectomy and tonsillectomy on the resolution of nocturnal enuresis in children. Material and methods: The study included 50 children with sleep-disordered breathing qualified for adenectomy, tonsillotomy or adenotonsillotomy (median age 7 years). The control group consisted of 20 healthy children (median age 8 years). Children in the study group were assessed prior to surgical procedure as well as 3 and 6 months after surgery. The presence of sleep-disordered breathing and nocturnal enuresis was determined based on author’s questionnaire completed by parents. Results: The incidence of nocturnal enuresis in children with nasopharyngeal lymphatic tissue hypertrophy was 18% (M:F 17%:19%; p > 0.05). Nocturnal enuresis was still reported in 6% of children 3 months after tonsillotomy. The disorder resolved in all girls and 97% of boys 6 months after procedure. Conclusions: Sleep-disordered breathing in children with nasopharyngeal lymphatic tissue hypertrophy is associated with nocturnal enuresis. Restoration of nasopharyngeal patency in these patients eliminates nocturnal enuresis. Tonsillar hypertrophy causing obstructive breathing should be included in the differential diagnosis of nocturnal enuresis.

Keywords: nocturnal enuresis, snoring, adenotonsillotomy, children
Selected factors affecting bone mass in students with diagnosed obesity, aged 7–10 years, from Łódź
Pediatr Med Rodz 2017, 13 (4), p. 514–526
DOI: 10.15557/PiMR.2017.0055

Introduction: Obesity may be a risk factor for mineralisation and bone structure disorders, contrary to a common belief in its protective effects on bone tissue. Aim: The aim of the study was to assess the relationship between selected risk factors and obesity indicators and bone mass in obese children. Material and methods: The study included 80 children aged between 7 and 10 years with excessive body weight (60 obese and 20 overweight); the reference group included 37 children with body weight appropriate for height. All patients underwent physical examination with anthropometric measurements. Parents were asked to complete a questionnaire. The average daily intake of selected nutrients was analysed using Dieta 2 software package. Densitometry (dual-energy X-ray absorptiometry, DXA) was performed in all children to evaluate bone mass. Results: Obese and overweight children had statistically significantly higher total body BMD and total body BMD Z-score compared to control group. Most DXA parameters (except from volumetric bone mineral density) were positively correlated with body weight, height and waist circumference. A significant positive correlation was found between physical activity and total body BMD. There was a negative correlation between the average daily intake of proteins, carbohydrates, magnesium and phosphorus in obese children and most DXA parameters (p < 0.05). Conclusions: Bone mass in obese children is positively affected by somatic features (body weight, height, waist circumference and body composition) and physical activity, and negatively affected by increased intake of proteins, carbohydrates, phosphorus and magnesium. The calculated volumetric mineral bone density may reflect the actual bone mineral density and prevent DXA overestimation in obese children.

Keywords: bone mineral density, children, overweight, obesity
Physical fitness of rural children and adolescents on the example of Polish pupils from the School Complex in Ołdaki
Pediatr Med Rodz 2017, 13 (4), p. 527–539
DOI: 10.15557/PiMR.2017.0056

Aim: The aim of the study was to evaluate physical fitness of rural children and adolescents on the example of pupils of the School Complex in Ołdaki, Poland. Material and method: The study covered 79 pupils of grades IV–VI of the primary school and I–III of the lower secondary school of the School Complex in Ołdaki. The study used K. Zuchora’s Index of Physical Fitness and a diagnostic survey method based on the author-prepared questionnaire. Results: The study conducted among pupils of the School Complex in Ołdaki showed that physical fitness of children and adolescents from the countryside was at a relatively good level. Of the components of the Index of Physical Fitness, the worst results were obtained for abdominal muscle strength. However, the subjects showed very good flexibility, endurance and speed. Girls and boys obtained similar test results. Striking is the fact that the oldest subjects, i.e. pupils in grade III of the lower secondary school, obtained the worst results both in the entire test and in individual exercises. Conclusions: The pupils knew how to take care of their health; they were able to indicate the benefits of being physically active, were eager to take part in physical education classes and actively spent their free time. They mostly believed that they could eat healthy. Only a small percentage of pupils admitted to have had contact with stimulants and fast-foods, which was a confirmation of the fact that they were taking good care of their health. Fitness tests proved that the pupils’ fitness was at a satisfactory level. There was no noticeable difference in the results obtained by girls and boys, which indicated similar performance in all pupils. The evaluation of the pupils’ activity in their free time proved that they were more willing to spend it actively, most often playing football and cycling 2–3 times a week.

Keywords: physical activity, adolescents, physical fitness, lifestyle, pupils
Primary anaplastic large T-cell lymphoma – a case report
Pediatr Med Rodz 2017, 13 (4), p. 540–546
DOI: 10.15557/PiMR.2017.0057

Cutaneous lymphomas are very insidious neoplasms whose primary symptoms are easily neglected. They are defined as primary cutaneous lymphomas when the lymphomatous proliferation is limited to the skin and no lymph node, bone marrow or internal organ involvement is observed at diagnosis. Patients with cutaneous lymphomas are for many years treated by dermatologists, who suspect allergy or advanced psoriasis in their patients. Other symptoms, such as asthenia, reduced body weight, night sweats, dyspnoea, cough, persistent pruritus or enlarged lymph nodes, are initially considered to be a sign of infection. In a vast majority of cases, lymphoma is diagnosed based on histopathological evaluation of skin specimens, followed by lymph node assessment. The paper presents a case of a patient referred to the Surgical Oncology Outpatient Clinic in the Pope John Paul II Provincial Hospital in Bełchatów (Poland).

Keywords: primary cutaneous lymphoma, lymphatic system, T-cell cutaneous lymphoma, anaplastic cells
Nummular eczema in a 3-year-old boy – a case report
Pediatr Med Rodz 2017, 13 (4), p. 547–554
DOI: 10.15557/PiMR.2017.0058

Nummular eczema (eczema nummulare) is a chronic, recurrent idiopathic dermatitis. Its name is derived from specific papular and vesicular lesions which merge into coin-shaped patches. These eruptions, which cause heavy pruritus, are usually confined to the lower extremities and the torso. The disease primarily affects elderly individuals. Despite numerous studies, the aetiology of this condition remains unknown. The suspected predisposing factors include chronic stress, excessive dryness of the skin and infections. Severe drug-induced forms of the disease are also known. Differential diagnosis of nummular eczema should include, alongside atopic dermatitis: fungal infection, drug-induced rash and psoriasis. Topical treatment, which focuses on the reconstruction of the protective layer of the skin, limiting inflammation and combating bacterial superinfection, involves the use of glucocorticosteroids and emollients as first-line therapy. If first-line treatment proves ineffective, immunomodulatory drugs are recommended. Secondary superinfection of the lesions with Staphylococcus aureus is a fairly common complication. In such a case both topical and systemic antibiotic therapy is indicated. This paper discusses the case of nummular eczema with Staphylococcus aureus superinfection in a 3.5-year-old boy hospitalised at the Department of Paediatrics, Paediatric Nephrology and Allergology of the Military Institute of Medicine in Warsaw, Poland.

Keywords: eczema nummulare, nummular eczema, atopic dermatitis, Staphylococcus aureus, nummular eczema treatment
Pentalogy of Cantrell – a case report
Pediatr Med Rodz 2017, 13 (4), p. 555–560
DOI: 10.15557/PiMR.2017.0059

A very rare syndrome of congenital defects, comprising an abdominal wall defect, diaphragmatic hernia, defect of the diaphragmatic part of the pericardium, heart malformations, ectopia cordis and sternal defects is known as pentalogy of Cantrell. It develops approximately from the 3rd to the 14th week of gestation, and is associated with a poor prognosis. Fewer than 200 cases, presenting with a varied severity of the malformations, have been noted worldwide. In this study, we report a case of a female newborn diagnosed with pentalogy of Cantrell. The first defect identified during foetal life was omphalocele. After birth, the infant was intubated due to severe cardiorespiratory failure. Chest radiography showed opacity of the right lung and displacement of the heart to the right. On further studies, a diagnosis of tetralogy of Fallot and a sternal defect as well as a suspicion of a lack of the central portion of the thoracic diaphragm were also established. In the second day of life, surgery restoring the continuity of the diaphragm and closing the rings of hernia was performed. After the procedure, the baby’s condition was critical, but stabilised over the next days of treatment. Currently, the child shows normal psychomotor development and remains under constant care of specialists. Infants with pentalogy of Cantrell require expensive and complex multidisciplinary, medical care for many years.

Keywords: congenital syndrome, diaphragmatic hernia, umbilical hernia, heart defect
From body piercing to acute kidney injury – a case report
Pediatr Med Rodz 2017, 13 (4), p. 561–566
DOI: 10.15557/PiMR.2017.0060

Acute kidney injury is an abrupt decline of renal function interfering with the body’s homeostasis. It most commonly occurs in neonates and children treated in intensive care units and undergoing extensive surgical procedures, especially cardiac surgery. Its aetiology is frequently complex, with infectious factors, toxic chemical activity and hydration and electrolyte imbalance occurring simultaneously and aggravating kidney injury. This study reports a case of a 17-year-old female patient in whom acute kidney injury was caused by a combination of factors, including sepsis, adverse effects of analgesic drugs and dehydration. Staphylococcus aureus infection caused by multiple-site piercings performed in a home setting resulted in the development of multiple skin abscesses, myometrial abscesses and a generalised infection. The patient’s condition warranted intensive antibiotic therapy and drainage of the myometrial abscesses. The therapy facilitated eradication of the infection foci and normalising renal function.

Keywords: acute kidney injury, sepsis, body piercing
Lung abscess in an immunocompetent 4-year-old girl – a case report
Pediatr Med Rodz 2017, 13 (4), p. 567–571
DOI: 10.15557/PiMR.2017.0061

Lung abscess is a rare diagnosis in the paediatric population. It most often arises as a complication of bacterial pneumonia; therefore, it is sometimes difficult to distinguish its symptoms from the symptoms of pneumonia. The abscess may be primary (it develops in immunocompetent children) or secondary (when there are favourable factors such as congenital malformations, immunological disorders, infections or neurological diseases). Treatment consists of initiating intravenous antibiotic therapy for 3–4 weeks and continuing it for 5–6 weeks orally to minimise the risk of complications. The purpose of this clinical case report was to draw the attention of general practitioners to the possible occurrence of lung abscess also in immunocompetent children. Attention was drawn to the severity of patient’s condition in the absence of auscultation symptoms. Physician’s experience has an impact on the sensitivity of the assessment of child’s clinical condition.

Keywords: lung abscess, pneumococci, pneumonia, children
Lend me your ear: Frank’s sign as a non-invasive method of vascular disease risk assessment
Pediatr Med Rodz 2017, 13 (4), p. 572–576
DOI: 10.15557/PiMR.2017.0062

Cardiovascular diseases are the most common cause of unfitness for work and mortality in Polish people. The recommendations of all scientific associations emphasise the key role of primary prevention of diseases of affluence; however, demographic forecasts and the actual data concerning prevention do not indicate any trend for reduced morbidity and mortality in Poland. The article discusses Frank’s sign (earlobe crease), which appears on the earlobe in the fifth or sixth decade of life and correlates with atherosclerosis-related vascular diseases. The article presents the most important epidemiological data, description of the sign as well as important information from the literature on this simple physical assessment for the diagnosis of atherosclerosis-related vascular diseases. Checking whether the patient has Frank’s sign is a non-invasive and cost-free diagnostic tool for screening for atherosclerosis complications. Sensitivity of 62% indicates a chance for early detection of ischaemic heart disease in the asymptomatic population.

Keywords: earlobe crease, Frank’s sign, vascular disease, atherosclerosis