Praktická pediatria/VARIA

Nové poznatky vo výžive detí a ich aplikácia do každodennej praxe VLDD

Špániková M.

Ambulancia pre deti a dorast, VYDUR s.r.o., Bratislava

Väčšina lekárov pracujúcich v detských ambulanciách má za sebou desiatky rokov praxe. Za toto obdobie sa zásadným spôsobom zmenili názory a odporúčania na správnu výživu detí. Od sedemdesiatych rokov sme svedkami renesancie dojčenia, zmenili sa prístupy k zavádzaniu bezmliečnych príkrmov, viac pozornosti sa hlavne v poslednom čase venuje výžive batoliat.

Znalosti z gastroenterológie, imunológie a problematiky výživy ako takej vychádzajúce z medicíny založenej na dôkazoch a z medzinárodných odporučení sú základom, na ktorom by mal každý lekár postaviť usmernenie rodičov v oblasti výživy dieťaťa. Týka sa to dojčenia, zavádzania bezmliečnych príkrmov, výživy batoliat, ale aj riešenia chorobných stavov: potravinovej alergie, nastupujúcej obezity, porúch vyprázdňovania, nechutenstva a neprospievania. Cieľom prednášky je, ako pretlmočiť najnovšie poznatky o dojčení, potravinách a výžive do odporučení zrozumiteľných každej matke a individuálne postavených pre každé dieťa.

New Findings in Nourishment of Children and it´s use in every day practise of general practicioner for children and adolescence

Špániková M.

Outpatient´s Pediatric Clinic, VYDUR s.r.o., Bratislava 

The majority of doctors working in the paediatrician‘s office have gained a lot of experiences during their practise. In the last couple of years there were some radical changes and recommendations have changed for appropriate nourishment of children. Since the seventies we are witnessing the renaissance/rebirth of breastfeeding and we could see a different approach towards non-dairy food, more attention is being paid now to nourishment of toddlers.

The knowledge from gastroenterology, immunology and issues arising from nourishment itself based on evidence from the medical point of view and international recommendations is the foundation on which each doctor should direct and guide the parents in the area of nourishment of a child. This includes breastfeeding, introduction of non-dairy food as well as nourishment of toddlers, but at the same time it should be also solving health conditions such as Food allergy, obesity, obstipation, poor appetite and weight loss. This lecture is focused mainly on how to translate these new findings about breastfeeding, food and nourishment into easy to comprehend recommendations.

Domáce pôrody – týka sa nás to? (pohľad VLDD na problematiku domácich pôrodov)

Prokopová E.

Ambulancia všeobecného lekára pre deti a dorast, PRO BABY, Bratislava

Takmer každý praktický lekár pre deti a dorast sa vo svojej praxi už stretol so žiadosťou prijať do svojej starostlivosti dieťa narodené doma alebo ambulantne (v ČR, Rakúsku...). Ako sa v týchto situáciách zachovať? Prijať, alebo radšej neprijať takéto dieťa do starostlivosti? A čo nám umožňuje zákon? Prezentácia sa snaží obsiahnuť povinnosti pediatra po narodení dieťaťa – všetky potrebné úkony týkajúce sa vyšetrení, observácie, skríningových vyšetrení novorodenca, ktoré v prípade domáceho pôrodu nie je možné (alebo veľmi zložité) vykonať, a zhrnúť právne úkony, ktoré súvisia so zapísaním takéhoto dieťaťa do matriky s následným vydaním rodného listu. Pretože ide o novú, právne a organizačne nevyriešenú problematiku, prezentácia chce len poukázať na problémy z pohľadu praktického pediatra a jej cieľom je vyvolať diskusiu o tomto zložitom probléme.

Home Birth – does it concern us? (from a paediatrician‘s point of view)

Prokopová E.

Outpatient´s Pediatric Clinic, PRO BABY, Bratislava 

Almost every general paediatrician for children and adolescents has encountered a request to accept and to take into medical care a child born in the home environment or with assistance in Austria or the Czech Republic. How to react in a situation like this? Is it better to accept or not to accept such a child? And what does the law enable us to do. The presentation maps out all the responsibilities of a paediatrician for such a child and all the necessary steps related to examinations, observation and screening of a newborn, which in the case of home birth isn‘t possible or might be very complicated to do. To summarize all the legal acts that are related with the registration of such a child at the registry office, followed by obtaining a birth certificate. From a legal and organizational aspect these are relatively new issues and the aim of this presentation is to discuss these issues from a paediatrician‘s point of view and to create a discussion about this difficult problem.

Bolesť hlavy – neobľúbená diagnóza

Okáľová K., Králinský K.

II. Detská klinika DFNsP, Banská Bystrica 

Bolesť hlavy je najčastejší somatický problém u detí a adolescentov. Incidencia primárnej bolesti hlavy sa dramaticky zvýšila za posledných 30 rokov, čo bezpochyby súvisí so zmenou životného štýlu. Udávaná prevalencia b.h. u detí školského veku je až 82 %.

Etiologické spektrum je široké od benígnej tenznej cefaley až po život ohrozujúce infekcie, krvácania a tumory. Racionálny, efektívny a v neposlednom rade aj ekonomický prístup k vyšetreniu dieťaťa sa začína dôkladnou anamnézou a odlíšením primárnej od sekundárnej bolesti hlavy. Primárna bolesť hlavy predstavuje ochorenie samo o sebe a zahŕňa migrénu, tenznú bolesť hlavy, tzv. cluster headache a iné trigeminové autonómne cefaley. Sekundárna bolesť hlavy je prejavom iného identifikovateľného ochorenia štrukturálneho, metabolického alebo zápalového. Ďalším krokom je dôkladné klinické vyšetrenie. Neurozobrazovacie vyšetrenie nepatrí do základného vyšetrovacieho algoritmu. Malo by byť zvažované pri akútnej a ťažkej bolesti hlavy, pri zmene typu chronickej bolesti hlavy, pri takej, ktorá budí pacienta zo spánku, je sprevádzaná vracaním, abnormálnym neurologickým nálezom alebo záchvatom. Osobitnú zmienku si zasluhuje migréna. Klasifikačné kritériá detskej migrény (International Classification of Headache Disorders ICHD-II) zlepšili senzitivitu diagnostiky migrény na 84,4 %. Jedná sa o bolesť hlavy, ktorá je:

1. strednej alebo silnej intenzity
2. pulzujúceho charakteru
3. obmedzuje bežné aktivity
4. jej lokalizácia je jedno- alebo obojstranná
5. trvá 1–72 hodín
6. je sprevádzaná nauzeou a/alebo vracaním
7. navyše sú prítomné minimálne 2 z nasledujúcich 5 príznakov: fotofóbia, fonofóbia, ťažkosti so sústredením, únava a závraty.

Špecifické detské periodické syndrómy, ktoré môžu byť asociované s migrénou sú: cyklické vracanie, abdominálna migréna a benígne paroxyzmálne vertigo.

Autori predkladajú niektoré štatistické údaje z vlastnej praxe.

Headache – An Unpopular Diagnosis

Okáľová K., Králinský K.

IInd Department of Pediatrics, DFNsP, Banska Bystrica 

The headache is the most common somatic problem in children and adolescents. The incidence of primary headaches has increased dramatically over the last 30 years, which is undoubtedly due to changeso in lifestyle. The indicated prevalence of headaches in children of school age is 82%. The etiological spectrum of the whole tension headache runs from benign to life-threatening infections, bleeding, and tumors. A rational, efficient and ultimately an economic approach to the examination of the child begins with a thorough examination of the child‘s history and differentiating primary from secondary headaches. The primary headache is a disease in itself and includes migraine, tension headache, cluster headache and other trigeminal autonomous cephalic pain. The secondary headache is a further symptom of a disease identifiable as structural, metabolic or inflammatory. The next step is a through clinical examination. A neuroimaging examination does not belong to the basic algorithm of inquiry. It should be considered in cases of acute and severe headaches, when there are changes in the type of chronic headache, when the patient is awkon from sleep, when it is is accompanied by vomiting, abnormal neurological findings or seizures. The migraine deserves a special mention. Classification criteria for pediatric migraine (International Classification of Headache Disorders ICHD-II) has improved the sensitivity of diagnosis of migraine to 84.4%. It is a headache which is:

1. medium or strong in intensity
2. of a vibrant character
3. limits daily activities
4. the location of a single- or double-sided
5. lasts 1–72 hours
6. is accompanied by nausea and/or vomiting
7. moreover, the presence of at least two of the following five symptoms: photophobia, phonophobia, difficulty concentrating, fatigue and dizziness.

Specific infant periodic syndromes that may be associated with migraine are: cyclic vomiting, abdominal migraine and benign paroxysmal vertigo.

The authors present some statistics from her own experience.

Hyperpigmentácie v detskom veku

Baloghová J.

Klinika dermatovenerológie LF UPJŠ a UNLP, Košice 

Poruchy pigmentácie v detskom veku zahŕňajú kožné prejavy so stratou pigmentu – depigmentácie, alebo nadprodukciou pigmentu – hyperpigmentácie a chrómie metabolického pôvodu, pri ktorých sa do kože ukladá farbivo při rôznych metabolických poruchách (napr. ikterus, bronzový diabetes). Hyperpigmentácie patria k veľmi častým poruchám tvorby pigmentu. Sú dôsledkom nadprodukcie melanínu prípadne zvýšenej denzity aktívnych melanocytov. Môžu byť vrodené alebo získané, lokalizované, lineárne, retikulárne alebo difúzne. Hyperpigmentácia môže byť dôsledkom chronického mechanického dráždenia, fyzikálneho či chemického poškodenia kože. Rôzne kožné ochorenia môžu zanechať pozápalovú hyperpigmentáciu. Mnohé lieky môžu tiež vyvolať hyperpigmentáciu. Najčastejšie sú to antimalariká, chemoterapeutiká či monocyclín. Mechanizmy vzniku poliekových hyperpigmentácií sú rôzne, od indukcie tvorby melanínu až po tvorbu depozitov komplexov liekov či ťažkých kovov v dermis. Hyperpigmentácie sú veľmi často súčasťou rôznych syndrómov a kľúčom k diagnostike iného závažného ochorenia. Pri hyperpigmentáciách je dôležité nezabudnúť aj na pigmentové névy a v nemalej miere spomenúť aj malígny melanóm kože, ktorého incidencia aj v detskom veku stúpa.

Hyperpigmentations in childhood

Baloghová J.

Department of Dermatovenerology, Medical Faculty, University of P. J. Šafárik, University Hospital L. Pasteur, Košice 

Pigmentation disorders in childhood include skin problems with loss of skin color – depigmentation or overproduction of melanin – hyperpigmentation and dyschromias of metabolic origin, in which the skin requires the dye in various metabolic disorders (eg. jaundice, bronze diabetes). Hyperpigmentation are very frequent disturbances of pigment formation. They usually result from an increase melanin production and possibly from an increas in density of active melanocytes. They may be congenital or acquired, due to localization localized, linear, reticular or diffuse. Hyperpigmentation may be the result of chronic mechanical irritation, physical or chemical damage of the skin. Various skin diseases can leave post-inflammatory hyperpigmentation. Many medications can also cause hyperpigmentation. The most common are the antimalarials, chemotherapeutic agents or monocyclin. Mechanisms of drug-induced hyperpigmentation vary from induction of the melanin production to deposition of drug complexes or heavy metals in the dermis. Hyperpigmentation are often part of different syndromes and the can be key to the diagnosis of other serious diseases. Ii is also important to mention pigmented nevi and malignant melanoma which incidence in childhood increases.

Artériová hypertenzia – pohľad detského nefrológa

Sádová E., Schusterová I.

Klinika detí a dorastu DFN a LF UPJŠ, Košice

Pre vysokú mortalitu a morbiditu na kardiovaskulárne (KV) ochorenia v dospelosti je dôležité sa nad nimi zamyslieť aj v praxi pediatrov. V detskom veku najvýznamnejším rizikovým faktorom KV ochorení je výskyt artériovej hypertenzie a jej neskorý záchyt. Artériová hypertenzia z pohľadu detského nefrológa je významným symptómom pre záchyt aj vrodených – hereditárnych nefritíd, ale aj hodnotiaci faktor progresií renálnych ochorení.

Na dokumentovaní dvoch kazuistík autori chcú priblížiť význam hodnotenia krvného tlaku (TK) už v novorodeneckom veku a tým aj v každom vekovom období. V oboch kazuistikách sa manifestovala hypertenzia ako prvý príznak pri následnom potvrdení hereditárnej nefritídy z kategórie polycystických ochorení obličiek.

Hypertenzia v detskom veku je prevažne sekundárneho pôvodu a viac než 90 % predstavuje renálne postihnutie. Pri definícii hypertenzie vychádzame z normatívnej distribúcie krvných tlakov u zdravých deti k pohlaviu, veku a výške tela a sú vyjadrené v percentiloch. Za normálne hodnoty TK u detí považujeme hodnoty systolického a diastolického tlaku menšie ako 90. percentil pre pohlavie, výšku a vek. Za hypertenziu považujeme hodnoty TK rovné alebo vyššie ako 95. percentil pre pohlavie vek a výšku v troch rôznych meraniach TK.

Úlohou detského nefrológa je: 1. určenie renálnej patológie klinickými, laboratórnymi aj zobrazovacími vyšetreniami včítane vyšetrení renálnych ciev, 2. doplnenie kardiologického vyšetrenia na posúdenie závažnosti artériovej hypertenzie a určenie stupňa postihnutia KVS, 3. liečba základného ochorenia s kombináciou nefarmakologickej a farmakologickej liečby hypertenzie.

Záver: Úloha detského nefrológa je pri diagnostike a liečbe hypertenzie neodmysliteľná v spolupráci s detským kardiológom a ich cieľom je minimalizovanie neskorých komplikácií zo strany KVS.

Arterial hypertension – point of view of pediatric nephrologist

Sádová E., Schusterová I.

Department of Children and Adolescents Medical, Faculty University P. J. Šafárik and Faculty Children Hospital, Košice 

The high mortality and morbidity from cardiovascular (CV) disease in adulthood, it is important to reflect on them in practice pediatricians. Most important risk factors of CV diseases in childhood are incidence of arterial hypertension and its delayed diagnosis. From the point of view of pediatric nephrologist arterial hypertension represents significant symptom for detection of inherited – hereditary nephritis, as well as an important criteria of the progression of renal diseases.

Authors want to highlight the importance of blood pressure monitoring in early neonatal period, as well as in all periods of childhood age. Arterial hypertension represented the first manifestation of hereditary nephritis from the cathegory of polycystic kidney diseases in both cases. Hypertension in childhood is mostly of secondary etiology and is caused by renal impairment in more than 90% of the cases. Definition of hypertension is based on the percentile distribution of blood pressure values in healthy children adjusted to gender, age and body height, being expressed in percentile charts. Normal values of systolic and diastolic blood pressure in childhood are below 90th percentile for gender, height and age. Hypertension is defined as blood pressure values equal or higher than 95th percentile for gender, age and height during three independent measurements of blood pressure.

Roles of pediatric nephrologist are: 1. Detection of renal pathology by means of clinical, laboratory and imaging methods, including examination of renal vessels, 2. Replenishment of cardiologic examination to establish severity of arterial hypertension and estimation of the degree of impairment of cardiovascular system, 3. Treatment of the basic condition by means of non pharmacologic and pharmacologic therapy of hypertension.

Conclusion: Cooperation with pediatric cardiologist, within the role of pediatric nephrologist in diagnosis and treatment of hypertension, is irreplaceable. Theiraimis to minimize the late complications in form of development of cardiovascular diseases.

Úraz elektrickým prúdom

Farkašová Iannaccone S.¹, Morochovič R.², Dulínová M.¹

¹Ústav súdneho lekárstva UPJŠ LF, Košice

²Klinika úrazovej chirurgie UPJŠ LF, Košice 

Úrazy elektrickým prúdom nie sú časté, predstavujú však urgentnú situáciu, ktorá sa v závislosti od rôznych faktorov môže končiť aj fatálne. Vo väčšine prípadov sa jedná o náhodné zasiahnutie elektrickým prúdom. Poranenie elektrickým prúdom vzniká prechodom prúdu telom jedinca po kontakte s prúdovodičom. U vysokého napätia nemusí byť priamy kontakt s vodičom, k úrazu dochádza preskokom výboja. Poranenie môže spôsobiť jednosmerný prúd alebo striedavý prúd, ktorý je nebezpečnejší. Najčastejšie ide o úrazy elektrickým prúdom spotrebiteľskej siete (120 V, 220 V, 380 V). Závažnosť poškodenia zdravia závisí od intenzity a dráhy prúdu, času, počas ktorého telom prechádza, ako aj od individuálnych vlastností zasiahnutej osoby. Významnú úlohu zohráva fyzický a duševný stav osoby v okamihu zásahu elektrickým prúdom, jeho zdravotný stav, stav šatstva a topánok. V mieste vstupu a výstupu prúdu sa na koži tvoria tzv. prúdové známky, ktoré môžu mať rôzny vzhľad a veľkosť. Pri pevnom kontakte s vodičom sa tvoria okrúhle až nepravidelné tuhé pľuzgiere bielej až sivej farby s prehlbeninou v strede a vyvýšenými okrajmi, často s červeným lemom po okrajoch. Ak je kontakt menej pevný, majú vzhľad tuhého uzlíka hnedej farby. Ak elektrický prúd pôsobí dlhšiu dobu, alebo ak je plocha vodiča veľká, vznikajú rozsiahle popáleniny s pľuzgiermi. Pri vysokom napätí vznikajú závažné popáleniny až zuhoľnatenie a drobné popáleniny s ukladaním kovových čiastočiek v koži, tzv. krokodýlia koža. Elektrický prúd pôsobí predovšetkým na nervovo-svalový systém, ktorý reaguje prudkým stiahnutím svalov a kŕčmi. Môžu vzniknúť zlomeniny kostí, vykĺbenia, odumretie časti kosti, poškodenie obličiek, nervového systému, sluchu, očí. U detí môže zásah elektrickým prúdom viesť aj k spomalenie rastu.

Autori prezentujú kazuistiku 4-ročného dievčatka, ktoré utrpelo úraz elektrickým prúdom v predškolskom zariadení pri kontakte horných končatín so živými časťami v elektrickej rozvodnej skrini v objekte. Dieťa bolo nájdené v ležiacej polohe na zemi, pomočené, zodpovedné vychovávateľky moment zásahu nepostrehli, následne zistili na rukách poškodenia kože bielej farby. Pri ošetrení sa diagnostikovali popáleniny III.–IV. stupňa na rukách, ktoré si vyžadovali hospitalizáciu s krytím defektov kožnými transplantátmi. Šetrením sa zistilo, že išlo o úraz náhodný bez zavinenia druhej osoby.

V danom prípade sa nejednalo o poranenie fatálne. Autori poukazujú na význam zdravotnej dokumentácie, fotodokumentácie poškodených oblastí tela a výsledkov kriminalistickej expertízy v súdnolekárskom posudzovaní.

An injury caused by electric current

Farkašová Iannaccone S.¹, Morochovič R.², Dulínová M.¹

¹Department of Forensic Medicine, P. J. Šafárik University in Košice

²Department of Traumatology, P. J. Šafárik University in Košice

Injuries due to electric current are not very frequent but once they happen they present an urgent situation which, depending on some other factors, can be fatal. The electricity injuries are mostly accidental. The damage by electricity occurs when the electric current passes through the body because of the contact with electric conductor. The direct contact is not necessary in case of high voltage – the injury could also occur by flashover. The damage can be caused by direct current as well as by alternating current which is more dangerous. Accidents caused by the commonly used voltage (120V, 220V, 380V) are the most frequent. The level of the bodily harm depends on the intensity and the route of the current, on the exposure time, and also on the individual body condition. The actual physical and mental condition, the state of health, and the character of clothes and shoes, all these things have a significant role in the moment of electrical shock. Marks from the electric current are formed on the skin in the places of the input and output of electricity. The marks can be of various appearance and size. In case of a fixed contact with an electrical conductor there are round, even irregular rigid blisters, coloured from white to grey, with a depression in the centre and with elevated margins and red fringe at the borders. If the contact is less fixed, the blisters look like brown rigid nodules. Prolonged exposure time or large contact area result in extensive burns with blister formation. High voltage causes severe burns, even carbonization, and also small burns with accumulation of small metal particles, which create the „crocodile skin“ look. The electric current impacts mainly the nervo-muscular system, the reactions of which are swift muscle contractions and convulsions. Bone fractures, dislocations, partial necrosis of a bone, kidney damage, eye and ear damage and damage to the nervous system can occur. In case of children, the electric attack can cause growth retardation.

The authors present a case report of a 4-year-old girl who suffered an injury by electric current by hand contact with the electrical conductor in the electrical switchboard in the area of a kindergarten. The girl was found lying on the ground, wet. The responsible teachers did not notice the moment of the accident, subsequently they discovered the white skin injuries on her hands. During the examination third and fourth-degree burns were found on her hands and the girl had to stay in hospital to undergo the skin graft technique to repair the skin injuries. The investigation established that it was an accidental injury, through no fault of another person.

This case was not a fatal injury. The authors point out the importance of medical records, the photographic documentation of damaged body parts, and the results of a forensic expertise in a forensic assessment.

Kongenitálna segmentálna aplázia svaloviny žalúdka a hrubého čreva u novorodencov

Ginelliová A.¹, Farkašová Iannaccone S.², Farkaš D.¹, Vyhnálková V.¹

¹Súdnolekárske a patologickoanatomické pracovisko ÚDZS, Košice

²Ústav súdneho lekárstva UPJŠ LF, Košice 

Autori popisujú dva zriedkavé prípady úmrtia novorodencov. Histologickým vyšetrením bola v oboch prípadoch zistená kongenitálna segmentálna aplázia svaloviny gastrointestinálneho traktu.

V prvom prípade sa jednalo o úmrtie 3-dňového donoseného novorodenca s diagnózou perforácie hrubého čreva, sterkorálnou peritonitídou a pneumoperitoneom. Dieťa zomrelo po dvoch hodinách po operácii v šokovom stave. Histologickým vyšetrením bola zistená v mieste perforácie kongenitálna segmentálna aplázia svaloviny hrubého čreva.

V druhom prípade išlo o úmrtie 4-dňového prematúrneho hypotrofického novorodenca porodeného v 32. gestačnom týždni. Na 3. deň života náhle došlo k zhoršeniu stavu. Na 4. deň života bolo pri kontrolnom RTG vyšetrení zistené pneumoperitoneum so suspektnou perforáciou čreva pri podozrení na nekrotizujúcu enterokolitídu. Dieťa krátko na to exitovalo. Pri pitve sa nepotvrdila perforácia čreva ani nekrotizujúca enterokolitída. Histologickým vyšetrením žalúdka bolo zistené disekujúce krvácanie do sliznice žalúdka pri kongenitálnej segmentálnej aplázii svaloviny žalúdka.

Spontánna perforácia v gastrointestinálnom trakte (GIT) u novorodencov je vzácna, ale dobre známa jednotka. Etiológia spontánnej perforácie v GITe je veľmi pestrá. Môže sa jednať o akútne aj chronické ulcerácie, obštrukciu v distálnych častiach GITu, zápaly predovšetkým nekrotizujúce, vaskulárne zmeny, perforáciu v dôsledku mechanickej ventilácie. Osobitnú skupinu tvorí kongenitálna segmentálna aplázia svaloviny žalúdka alebo čreva. Spontánnu perforáciu na podklade kongenitálneho defektu svaloviny žalúdka zaznamenal ako prvý Herbut v roku 1943. Postupne sa objavili aj záznamy o perforácii tenkého a hrubého čreva na rovnakom podklade. Etiológia a patogenéza doposiaľ nie je dostatočne objasnená. Kongenitálna segmentálna aplázia svaloviny žalúdka predstavuje asi 25 % prípadov perinatálnej perforácie žalúdka. Segmentálny defekt svaloviny tenkého čreva je považovaný za omnoho zriedkavejší nález. Prognóza ochorenia môže byť priaznivá iba v prípade včasnej diagnostiky.

Congenital segmental aplasia of the gastric and intestinal muscularis in neonates

Ginelliová A.¹, Farkašová Iannaccone S.², Farkaš D.¹, Vyhnálková V.¹

¹Medico-legal and Pathological Anatomy Departmant of Healthcare Surveillance Authority, Košice

²Department of Forensic Medicine, Faculty of Medicine, Pavol Jozef Šafárik University, Košice

The authors present two rare cases of neonatal death. Congenital segmental aplasia of the gastric and intestinal muscularis was proved by histological examination.

The case of a 3-day old mature infant with perforation of the large intestine, stercoral peritonitis and pneumoperitoneum is described. The infant died two hours after surgery in shock. Histological examination revealed congenital aplasia of the intestinal muscularis of the segment where the perforation occurred.

The second case presents a 4-day old premature and hypotrophic infant born at 32 weeks’ gestation. On the third day the infant’s condition suddenly deteriorated. On the fourth day a repeat abdominal X-ray showed pneumoperitoneum and bowel perforation was suspected due to necrotizing enterocolitis. The infant died shortly after the examination. No evidence of bowel perforation or necrotizing enterocolitis was found at autopsy. Histological examination of the stomach showed gastric mucosal bleeding and congenital segmental aplasia of the gastric muscularis.

Spontaneous gastrointestinal perforation in newborns is a rare but well known entity. It has been described in association with acute and chronic ulcerations, gastrointestinal obstruction, necrotizing inflammation, ischemic injury and mechanical ventilation. Congenital segmental aplasia of the gastric and intestinal muscularis represents a separate entity. Congenital absence of the gastric musculature at the site of perforation was first demonstrated by Herbut in 1943. Subsequently, cases describing perforation of the small and large intestine on the same basis were reported. The etiology and pathogenesis remain unknown. Congenital segmental absence of the muscular layer of the stomach accounts for about 25% of perinatal gastric perforations. Muscular defect in the small intestine is considered to be much rarer. Favorable prognosis can be achieved with early diagnosis.

Therapeutic issues in ring chromosome 21 abnormality – case study

Perenc L.

Medical Faculty, University of Rzeszow, Poland

Structural chromosome aberrations are very rare. Clinical problems connected to an abnormal genotype and solutions to these problems are not well-know. Below, we discuss the clinical history of a two-year old child with a ring chromosome 21 abnormality.

A male infant, the mother’s second pregnancy, was delivered with a c-section due to the baby’s undetectable pulse and water braking early. The birth took place in 37th week and the infant’s general state was rated as average. Apgar was rated at 6 in the first minute after birth and then in the 8th, 9th and 10th minutes. At conception the mother was 39 and the father was 40. The infant’s elder sister, aged 20, was healthy.

Due to dysmorphic traits and congenital heart defect at 8 weeks the child was scheduled for cytogenetic testing. The testing was carried out at 6 months. Peripheral blood lymphocytes were used for testing. We counted 146 mitoses, 10 analyzed karyograms. We used GTG-550 staining, Ag-NOR, and obtained karyotype MOS 46,XY,r(21)(p13q22.3)/45,XY,-21. There were two cell lines. One with a ring chromosome 21 (138 evaluated cells) and a second with chromosome 21 monosomy (8 cells). Ring chromosome 21 aberration was diagnosed.

The basic anthropometric parameters stayed below the third centile throughout the child’s development. This was a basis for the diagnosis of symmetrical intrauterine growth restriction (IUGR), small head (microcephaly) and microsomy. Dysmorphic features were observed at birth. In the face and neck area: epicanthus, antimongoloid slant, hypertelorism, wide, depressed broad-based nose, wide nasal bridge and tip, long philtrum, narrow upper lip, thick helix and left ear malformity. There were also wide-set nipples, cryptorchidism and a dermal sinus in the sacral region. Mild clinodactyly of the fifth digits in both hands, clear clinodactyly of the fourth digit in the left hand. An increased gap between the first and second toe. Overlapping toes: second and fourth over third. From 6 months onwards, after teething, we observed wide interdental spaces and triangular incisors. The boy had two types of hair - straight and curly and bright pigmentation marks on trunk and extremities, patterned according to Blaschko’s lines. After observing these dysmorphic features we decided to evaluate internal organs using imaging and laboratory testing. The patient received specialized care after confirming abnormalities.

Surgical issues: Cleft palate of the soft palate and partially of the hard palate were diagnosed. A laryngologist was consulted in the first week after birth. Plastic surgery using Langenbeck metod was conducted at 21 months and 5 days to restore tissue continuity. There were complications to the surgery: pneumonia, respiratory failure and thrombocytopenia. Post-surgical intensive care was necessary.

At 8 weeks, inguinal hernia (right side) was diagnosed. Scrotum ultrasound was conducted at 28 weeks. Hernia was confirmed as well as the presence of testicles in the scrotum. The length of the testicles was 1 cm. At 32 weeks, the patient underwent hernia surgery.

Nutritional issues: In the first days after birth the patient was apathetic, sucking and swallowing reflexes were weak. Until the fourth day of life parenetral nutrition was provided, then the boy was probe- and spoon-fed. Ultrasound conducted at 24 weeks showed anatomical symptoms of gastroesophageal reflux. Reported recurrent vomiting supported this diagnosis. Proton-pump inhibitors were prescribed, diet was modified and antireflux formula was introduced into the diet. This therapy was continued until the 50th week. At 17th months oral function was still inhibited - weak sucking and swallowing functions. The boy ate small amounts of food at a time, and the daily intake was supplemented with probe nutrition. At 23 months, after palate plastic surgery a significant improvement in food intake was observed. The boy was spoon-fed and the probe was given up.

Cardiovascular issues: From birth chest X-rays showed cardiomegaly. Cardiologist consultation showed no dyspnea, cyanosis, pulse was present in all extremities, heartbeat at a steady 110/min. EKG showed situs solidus, at the back of the interartrial septum a 4–5 mm hole was detected (ASD II). Physiological strength of the right atrium was greater than the left, heart contractility normal, atrioventricular valves normal, correct venous drainage. Main vessel branches are positioned correctly, permeable arterial duct. Minor left-right shunt.

Aortic arch was normal, sufficient cardiovascular efficiency, so there was no need for medication. Additional cardiovascular examination was conducted at 52 days in the hospital during bronchitis. Dyspnea was noticed, strong heartbeat, no split second heart tone. ECG showed 5 mm ASD with a left-right shunt, enlarged right valve and right chamber with good contractility, reverse flow through tricuspid valve, with a gradient of 60 mmHg, wide pulmonary artery with increased resistance, left chamber muscle mildly thickened, no narrowing of left chamber outlet, left chamber ejection fraction at 85%. The patient received Furosemid and Enarenal due to pulmonary hypertension. Control ECG exam was conducted at day 56 and 60. There was a gradual remission of reverse flow through tricuspid valve, normalized pulmonary flow and no pulmonary hypertension.

Additionally, 2–3 small holes in terventricular septum were noticed. Temporary tachycardia was observed during treatment. Troponin T levels were: 109.9 pg/ml at 47 days, 296.5 pg/ml at 49 days, 177.6 pg//ml at 63 days. Furosemid was withdrawn. Spironol was added to the Enarenal treatment. Subsequent cardiovascular exam was conducted at 78 days. There was still no dyspnea or cyanosis, heart murmurs at 1-2/6, tone II articulate. Echosonography: ASD AT 4 mm, right side of the heart widened, pulmonary flow increased with a gradient at 5–6 mmHg, no hypertensive symptoms. Medication dosage was adjusted to fit body weight. At 24 weeks during pneumonia treatment Furosemid was administered intravenously. At 28 and 40 weeks, echocardiography showed 7mm hole in interartrial septum (ASD II type), significant enlargement of the right atrium and right chamber, gradient of the pulmonary flow at 8 mmHg. EKG showed steady sinus rhythm at120–130/min, right axis deviation, right chamber enlarged: syndrome qRs v V1, RS in V5–V6. Continued drug treatment was needed and a more specialized clinic was involved in the treatment.

Recurring infections: X ray after birth indicated no inflammatory changes in the lungs. Diaphragm and costodiaphragmatic recess unchanged. Recurring pneumonia called for hospitalization at: 8, 12, 15, 24 and 28 weeks. At 24 weeks the pneumonia with pleural effusion. At 22 months, after the cleft palate surgery, intensive care was necessary due to pneumonia with respiratory failure. We administered antibiotics intravenously, nebulizations to dilate bronchis and treatment to increase pulmonary flow. During intensive care, ventilation treatment was also administered. Before cleft palate surgery there was a temporary need to include passive oxygen therapy, repeated suctioning and cough assist. At week 20 there was incidental infection of the gastrointestinal tract, which resulted in a need for hospitalization. Camphylobacter was detected. Additional tests showed correct morphotic parameters and immunoglobulin levels.

Neurological and neuro-developmental issues: After birth we searched for abnormalities in the central nervous system. In the trans-fontanel ultrasound conducted during the first week after birth white and grey matter development was diagnosed as correct. Ventricular system symmetrical, permeable, unaltered, sized 19.6 mm, cavum septi pellucid was small. Subdural cavities correct. Control examination at 8 and 24 weeks – central nervous system developing correctly. Ultrasound at 28 weeks showed corpus callosum was narrow (small anterior fontanelle, orientative examination). At 40 weeks MRI scan showed fluid cavities in the brain wider than normal (at 5mm) in the frontal area. There was also high signal white matter area, which can be connected to immature myelination. No inflammation detected. Corpus callosum was very narrow. Supratentorial ventricular system widened, Evans’ ratio at 0.33, left ventricle slightly wider, no midline shift. Fourth ventricle and supratentorial structures correct. MRI of the head showed deficiencies in nerve cells of the brain and unfinished myelination process. Epilepsy – epileptic seizures started at day 157. They took the form apneic attacks, eyes rolling to the side, cyanosis, drops in saturation and tachycardia. Initially they were sporadic, later on became more frequent. At 24 weeks EEG was conducted during natural sleep after sleep deprivation. Basic EEG was modified by low voltage fast pattern. Bioelectric features of sleep were weak. EEG showed asynchronous sharp waves (series or single), conjunctions of sharp wave-slow wave, peak-wave with amplitude of 400 uV. During seizures there were continuous discharges in the left tempoparieto-occipital region in the form of peak-wave and multiple peak-wave with 3–4 Hz frequency, lasting 2 minutes. Initially treated with injections of valproic acid derivatives, phenobarbital, and later on oral – with satisfactory results. Epileptic seizures persisted despite the treatment. At 28 months tonic seizures were observed. Video EEG during natural sleep after sleep deprivation was conducted. Bioelectrical features of sleep were still weak. Lateral changes over the right hemisphere, with superior activity in back of tempoparieto-occipital region with temporal single peaks, series of peaks and subsequent peak-wave conjunctions with amplitude of 200 uV. The dose of valproic acid was increased, levatiracetam was introduced. At 40 weeks EEG showed generalized abnormalities synchronous during sleep with spindles of sharp waves, slow waves, peak-wave conjunctions and multiple peak-wave with amplitude up to 450 uV. Photostimlation did not influence EEG patterns. Epilepsy treatment was modified a number of times. Currently, the patient is treated with viganatrin and valproic acid. Epilepsy nonresponsive to drugs was diagnosed. Ophthalmoscopy was conducted several times because there was no blink response and the child did not fix or follow his gaze. At 24 weeks optic disks were pale, well distinguished, vessels were narrow, retina was rarefied. At 14 months: optic disks were pale-ish, round, small, well distinguished. Retina showed numerous pigment concentrations. We suspected underdevelopment of the optic nerve and degeneration of the retina. At 23 months there was no social smile and no focus of gaze. There are still deficits in terms of focusing and following gaze. Activities are conducted with the control of gaze only sporadically. The boy usually does not direct his hands towards objects passed to him, he holds objects placed in his hand. Only the hand-mouth coordination was observed, he also touches his hair. At 17 months linguistic development was hindered, the boy sporadically utters inarticulate sounds. At 20 months he started to make more sounds, started babbling. At 23 months articulation improved with improved function of the lips and tongue, still babbles. Auditory attention - focusing and direction - is impaired. At 17 months postural muscle tension was low, increased in the extremities. Asymmetrical supine position in line with persisting asymmetrical tonic neck reflex, in prone position no low support, no rotation, no object grabbing. Antigravity reflexes in all four limbs. Upper limbs more active. No reaction observed in: blink reflex in reaction to loud sounds, blink reflex, Moro reflex, support, stepping, straightening, defensive and balance reflexes. Reactions observed in: asymmetrical tonic neck reflex, symmetrical and tonic labyrinth reflex. Traction exam evoked Landau’s type I response. At 20 months in prone position there was low support and twisting of the head. There was still no rotation. Only the blink reflex in reaction to sound and asymmetrical tonic neck reflex with twisting of the head to the right side was observed. Traction reaction was to keep the head in line with the trunk. Turning of the head reactions were observed, Landau’s type II reaction. At 23 months, after surgery, the patient lost the ability for low support in prone position and did not lift the head in this position. Reflexes remained unchanged. From 20th month on, HKFAO orthosis was used 3–4 times a day. Due to asymmetrical body position thoracolumbar scoliosis, left curve, was developed as well as chest deformity. At 23 months the patient has not developed sphincter control.

The boy undergoes physical therapy as in and out-patient. Rehabilitation programs include: exercises to stimulate auditory and visual perception, polysensory therapy, Castillo Morales orofacial therapy, neuromotor massage, Bobath exercise, respiratory exercise, coordination, balance and synergistic exercises, leg muscle stretching, classic and whirlwind massage, fango treatment for ankles.

Conclusions: Solving therapeutic needs of a child with ring chromosome 21 aberrations requires the cooperation of a multidisciplinary team.

Počátky tzv. „civilizačních nemoci“ již v dětském věku

Slaný J.

Fakulta zdravotníctva a sociálnej práce Trnavské univerzity, Trnava

Spektrum nemocí, která pokládáme za tzv. civilizační, se obvykle pojí až s dospělým věkem: jsou to kardiovaskulární onemocnění, diabetes mellitus II. typu, onkologická onemocnění, onemocnění pohybového aparátu apod. Všechna tato onemocnění, a ještě i řada dalších (poruhy hemokoagulace, cévní mozkové příhody atd.), mají své příčiny mj. také v obezitě. Pokud vyhodnotíme trend incidence a prevalence obezity a nadváhy u dětské populace, lze konstatovat, že v posledních dvaceti letech můžeme hovořit přímo o „epidemii“ obezity u dětí (počet dětí s nadváhou i obezitou se za toto období zdvojnásobil!). A dnes také víme, že minimálně polovina obézních dětí školního věku zůstává obézních i v dospělosti, se všemi výše uvedenými riziky. A tak některá z těchto „civilizačních“ rizik a onemocnění lze navíc již detekovat u obézních jedinců v období puberty a adolescence! Pokud víme, že méně nežli 2 % obezit dětí je způsobeno endokrinními či jinými vrozenými vlivy (jde konkrétní genetické syndromy), celý obrovský zbytek výskytu připadá na obezitu, vzniklou na polygenním dědičném podkladě (ve hře je cca 600 genů), způsobenou nevhodným rytmem i charakterem stravy a nedostatkem adekvátního výdeje energie, tedy pohybu u dětí. Jedná se tedy jednoznačně o preventabilní situaci, u dětí tedy rozhodně preventabilní, pokud se týká prevence vzniku uvedených tzv. civilizačních nemocí. Ve sdělení je dále prezentována diagnostika nadváhy a obezity u dětí, kritéria, způsoby její prevence a léčby.

Start of s.c. diseases of „modern age“ already in childhood

Slaný J.

Faculty of Health Sciences and Social Work, Trnava University, Trnava 

The spectrum of diseases that we consider s.c. „diseases of modern age“, is usually associated only with adults age: they are cardiovascular diseases, diabetes mellitus type II, oncological diseases, orthopedic diseases, etc. All of these diseases, and there are many other (disorders of haemocoagulation, brain stroke etc.) has its causes, among others, also in obesity. If we see the trend of the incidence and prevalence of obesity and overweight in the pediatric population, we can say, that in the last twenty years, we can speak directly about the „epidemic“ of obesity in children (children overweight and obesity in this period doubled!). And today we also know, that at least half of obese school-aged children remain obese into adulthood, with all the above risks. And some of these „civilization“ risks and diseases can also been detected in obese subjects during puberty and adolescence! If we know, that less than 2% of obesity in children is caused by endocrine or other hereditary factors (genetic syndromes), the entire rest of the huge incidence attributable to obesity caused to polygenic inheritance basis (in the play is about 600 genes), caused by wrong rhythm and character of diet and lack of adequate energy expenditure, thus the movement of children. This is clearly a preventable situation of children certainly preventable with regard to the prevention of those so-called „modern diseases“. The author in his lecture also presents diagnosis of overweight and obesity in children, criteria of obesity, methods for its prevention and treatment.

Dojčenská a detská úmrtnosť a jej špecifiká v regióne východného Slovenska

Kuchta M.

Klinika detí a dorastu LF UPJŠ a DFN, Košice 

Úvod: Analýzy detskej a najmä dojčenskej úmrtnosti (DU) sú významným nástrojom na sledovanie kvality zdravotnej starostlivosti o najmladšiu populáciu, na sledovanie faktorov, ktoré ju ovplyvňujú aj mimo zdravotníctva, na prijímanie opatrení na jej zlepšenie.

Cieľ: Na základe výsledkov štandardizovaných ukazovateľov úmrtnosti detí v košickom VÚC za obdobie rokov 2006–2014 analyzovať faktory, ktoré ich najviac ovplyvnili. Retrospektívne zhodnotiť trendy úmrtností vo východoslovenskom regióne a porovnať ich s výsledkami v Českej republike a Európskej únii.

Metódy: Na zistenie absolútnych a relatívnych hodnôt detskej úmrtnosti v regióne východného Slovenska administratívne spadajú-com do Košického VÚC sme použili oficiálne hlásenia okresných odborníkov z uvedenej oblasti za roky 2006–2014, podľa štandardov Ministerstva zdravotníctva SR. Následne sme hodnotili trendy a porovnávali údaje s výsledkami na ostatnom území Slovenska, v Českej republike a v EÚ.

Výsledky: Ukazovatele DU v regióne majú v intervale posledných 10 rokov mierne klesajúci trend s výnimkou posledných 2 rokov. Za rok 2013 bola napr. DU 7,47 ‰, DU Rómskej populácie 15,59 ‰ a DU bez Rómov 4,32 ‰. Hodnoty celkovej DU v Českej republike sú polovičné. Slovensko je v celosvetovom rebríčku v poradí DU na 47. mieste, Česká republika na 7. mieste. V regióne existujú výrazné rozdiely v úmrtností detí medzi okresmi. Pretrváva vysoký podiel infekcií na úmrtnosti detí nad 1 rok, nezmenená úmrtnost na úrazy. Na výsledky výrazne vplývajú sociálne faktory a nízka úroveň zdravotného uvedomenia. Výsledky DU nedokáže zásadne viacej ovplyvniť samotný rezort zdravotníctva.

Závery: Na riešenie špecifických problémov na východe Slovenska je potrebný komplexný prístup viacerých rezortov.

Infant and child mortality and its specifics in Eastern Slovakia

Kuchta M.

Department of Children and Adolescents Medical Faculty University P. J. Šafárik and Faculty Children Hospital, Košice

Introduction: Analysis of child and especially infant mortality rate (IMR), are an important tool for monitoring of the quality of health care for the youngest population, for the following factors affecting quality of life, and to take measures to improve it.

Objective: Based on the results of standardized indicators of infant mortality in Kosice region for the period 2006–2014, we analyze the factors that influenced them the most. Retrospectively assess mortality trends in the Eastern Slovakia region and compare them with the results of IMR in the Czech Republic and the European Union.

Methods: To determine the absolute and relative values of infant mortality in eastern Slovakia, we used the official reports of the district experts from, in the period of years 2006–2014, by the standards of the Ministry of Health of Slovak Republic. We compared data trends with the results of the rest of the territory of Slovakia, the Czech Republic and the EU.

Results: Indicators of IMR in the region have an interval of the last 10 years a slight downward trend, except the last two years. For example, in the year 2013 was IMR 7.47 ‰, IMR of Roma population 15.59 ‰ and IMR without the Roma was 4.32 ‰. The values of total IMR in the Czech Republic are halved. Slovakia has in global world IMR position 47, Czech Republic is in 7th place. In the region of east Slovakia there are significant differences in child mortality between districts. Not yet a high proportion of infections on child mortality over 1 year, unchanged mortality from accidents. This results is significantly influenced by social factors and the low level of health awareness. Results of IMR not more fundamentally affect from the health sector alone.

Conclusions: In order to solve specific problems in eastern Slovakia, requires the cooperation of several departments.

Care of Minor Mother and Child – Selected aspects

Kovaľ J., Semková D., Lavrik M.

Paediatrics Clinic, FNsP J. A. Reimana, Prešov

Introduction: A minor juvenile mother is considered to be a girl who is pregnant or has already given birth to a child and her age makes her belong into development adolescent stage. Problem of juvenile mothers is worldwide. Pregnancy and natality among juvenile mothers varies within individual ethnic groups and it does differ geographically. Pregnancy and natality among juvenile mothers is mostly associated with low education, low mentality, unsuitable living conditions, poverty. There are numerous consequences of pregnancy in juvenile girls.

Material and methods: Target group of underage, juvenile mothers constitutes a significant risky youth group. Retrospectivelly, we analysed trends of natality of underage juvenile mothers within the region of Prešov and we compared them with the results in the Slovak republic, Czech Republic, the EU and within the world. At the same time, we analysed natality of juvenile Roma and non-Roma mothers with a focus on baby care after birth. We performed the analysis on a basis of the figures acquired by head physicians of neonatology department and official reports in terms of both infant natality and mortality analyses. We evaluated factors and determiners leading to pregnancy in adolescence, consequences of pregnancy in juvenile mothers as well as care and health of children.

Results: Within the years from 2007 up to 2014, in FNsP J. A. Reimana Prešov (Faculty Hospital of J. A. Reiman in Prešov/, birth-givings of minor juvenile mothers were making an average of 4.6% out of total birth-giving figure. In terms of birth-givings of juvenile mothers, the group of a 15-year-old mothers made 16.5%, a 16-year-old mothers 38.5% and a group of 17-year olds was 45%. Out of the total number of new-born children – 20,173, throughout the analysed period, 2,418 children were born with LBW (low birth weight) (12%). During the analysed period, juvenile mothers gave birth to 922 children, out of which 196 babies with LBW (20.6%). Within the group of 15-year-old mothers, there were 32 babies with LBW (21%), in the group of 16-year-olds, 73 babies with LBW (20.5%). The group of 17-year-olds was comprised of 91 babies with LBW (21.9%). Out of the total figure of birth-givings of juvenile Roma mothers (6,692), the number of juvenile Roma mothers was 615 (9.2%). In terms of birth-givings of juvenile Roma mothers, the group of 15-year-old mothers was represented by 15.6%, 16-year-olds made 34%, and 17-year-old mothers created 50.4%. The number of birth-givings of non-Roma juvenile mothers within the monitored period was 297, which comprised 2.2% out of total figure of birth-givings of non-Roma mothers. The group of 15-year-old non-Roma mothers was represented by 15.5%, 16-year-olds by 49.1% and 17-year-olds made 35.4%.

Conclusion: Juvenile mothers create a significant group of risky youth. However, there is little attention paid to this group. Prevention should be targeted on influence of the main factors leading to pregnancy in juvenile girls. These main factors are connected with individual manners, family and social situation as well as cultural pressure. Pregnancy and birth-giving, subsequent baby care by juvenile minor mothers represents specific psychological, health and social-legal issue which is no longer only an issue of paediatrics, which is necessary to be solved with high responsibility.