Extremely rare complication in high-risk newborn on long-term parenteral nutrition and large stool losses through ileostomy.

AIM: To analyse postnatal characteristics, clinical and laboratory findings, results of investigations in the newborn (25 gestational weeks; Apgar score: 6/9 points; born per caesarean section; birth weight: 600 g; birth length: 31 cm; head circumference: 21 cm) from the first high-risk pregnancy with acquired form of acrodermatitis enteropathica. RESULTS: After summarizing the clinical picture with laboratory findings, we analysed the components of parenteral nutrition with regard to the deficiency of trace elements and vitamins. The zinc depletion dominated. CONCLUSION: The diagnosis is clinical, based on the presence of a typical clinical picture together with a low serum zinc concentration. Standard preparations with elementary elements do not sufficiently cover the daily needs of children, other possibilities of supplementation in intravenous form are not available. It is necessary to supplement zinc in premature children, in children with high losses of zinc (with diarrhoea, in patients with a stoma, in patients with severe skin disease) (Fig. 4, Ref. 15).

COVID-19 virus and clinical outcome on the newborns at the Neonatal Department of Intensive Medicine in Bratislava, Slovakia.

AIM: The aim of this study was to analyse the group of newborns who were admitted at Neonatal Department of Intensive Medicine in Bratislava Faculty of Medicine Comenius University in Bratislava and National Institute of Children´s Diseases in the period from 08.01.2021 until 07.07.2023 who were affected by the COVID-19 virus from mother before birth, from staff or in family or were only in contact with COVID-19 positive person. RESULTS: Most common symptoms in newborns within our findings included fever, upper respiratory symptoms, and diarrhoea. Detailed analysis of prenatal and postnatal characteristics, clinical findings are presented in tables 1-3. CONCLUSION: COVID-19 pandemic had a great impact on the pregnant women as well as on prenatal and postnatal development of the child. Our results reveal that the severity of symptoms in COVID-19 infected newborns from our sample was low. It is important to implement adequate neonatal practices for early detection of illnesses, especially in relation to COVID-19 which will subsequently allow early intervention and reduce neonatal mortality. Future challenges for all countries include the implementation of higher hygiene standards, prevention of spreading, more sensitive tests to use in the first day of life (Tab. 3, Ref. 36).

Congenital cytomegalovirus infection ‒ a problem of past, present and future.

AIM: To analyse prenatal and postnatal characteristics, clinical and laboratory findings, results of investigations in the group of 11 newborns with congenital CMV infection, who were hospitalized at Neonatal Department of Intensive Medicine between January 1st 2012 and March 31st, 2022 were included. RESULTS: Prenatal foetal sonography revealed in patients 5 and 8, positive calcifications in the brain; in patients 6, 9 and 11, isolated ventriculomegaly was found. Neurological examination was clinically negative in patients 1 and 10, changes of muscular tonicity and spontaneous activity were confirmed in the rest of the group. In patients 5 and 10, one-sided positivity of otoacoustic emissions was confirmed. Chorioretinitis with bilateral negative otoacoustic emissions was confirmed in patient 5. Clinical status of patient 11 was complicated by pneumonitis. Three patients were treated with antiviral drugs orally, and 11 newborns had a combination of intravenous and oral form of treatment. CONCLUSION: The results of analysis will contribute to a society-wide solution of prevention. Monitoring of the frequency of CMV infection in the population with education of the population can decrease the number of affected newborns (Tab. 4, Ref. 29).

Prenatal and postnatal peculiarities and consequences of intestinal loop patency disorder with expansive giant cystic abdominal mass in a preterm newborn.

AIM: To analyse the findings in a newborn (36 gestational weeks, birth weight: 4,030 grams, birth length: 48 cm, Apgar score 7/8/8 points) with prenatal suspicion of intestinal obstruction at the duodenum/jejunum level. The patient required urgent surgery on the first day of life. RESULTS: Examination of the abdominal cavity confirmed the presence of a cystic mass with a volume of approximately 800 ml, which was located at the site of jejunal atresia. As part of the surgical solution, the cystic formation and the atretic segment of the intestine were resected with subsequent end-to-end jejuno-jejunal anastomosis and Bishop‒Koop ileostomy. The histological examination of 3 samples collected confirmed the presence of mucous membrane and smooth muscle. CONCLUSION: The cyst anatomically communicated with the aboral section of the jejunum, but the lumen of the jejunum was functionally obturated by solid whitish masses. The histological examination confirmed the diagnostic features of a cyst of intestinal origin. The ileum and colon were patent throughout, but of smaller diameter, so a Bishop-Koop relieving anastomosis was indicated. The condition of the child at the age of 9 months was stabilised and surgical closure of the stoma was carried out (Tab. 1, Fig. 8, Ref. 21). Text in PDF www.elis.sk Keywords: newborn, jejunal atresia, intestinal cyst.

Is inhaled nitric oxide a miraculous molecule? The analysis of nitric oxide use in newborns with persistent pulmonary hypertension of the newborn.

AIM: The aim of this study was to establish a set of hospitalised patients with persistent pulmonary hypertension of the newborn (PPHN) by using retrospective analysis according to gestational age, position during childbirth, type of childbirth, dosage and length of the treatment by inhaled nitric oxide (NO) and application of inotropic agents as well as interindividual specifics and the background of PPHN. RESULTS: Our cohort consisted of 11 newborns who were hospitalised in Neonatal Department of Intensive Medicine between 1st January 2017 and 31st December 2019. Four of these patients were born prematurely. Only two out of eleven patients were born vaginally. Nine of the newborns were diagnosed with secondary PPHN, in three of these cases it was caused by infection. The highest dose of inhaled nitric oxide used was 40 ppm. CONCLUSION: The focus of this paper was the therapeutic use of nitric oxide, its various applications and the effect of it on pulmonary circulation of the newborn. Inhaled NO is a selective pulmonary vasodilator used as a therapeutic agent for PPHN of the newborn. The conclusions of this paper can be beneficial in the development of better therapeutic strategies for patients with PPHN in the future (Tab. 3, Fig. 1, Ref. 40).

A novel homozygous mutation in the human ALG12 gene results in an aberrant profile of oligomannose N-glycans in patient's serum.

Congenital disorder of glycosylation type Ig (ALG12-CDG) is a rare inherited metabolic disease caused by a defect in alpha-mannosyltransferase 8, encoded by the ALG12 gene (22q13.33). To date, only 15 patients have been diagnosed with ALG12-CDG globally. Due to a newborn Slovak patient's clinical and biochemical abnormalities, the isoelectric focusing of transferrin was performed with observed significant hypoglycosylation typical of CDG I. Furthermore, analysis of neutral serum N-glycans by mass spectrometry revealed the accumulation of GlcNAc2Man5-7 and decreased levels of GlcNAc2Man8-9, which indicated impaired ALG12 enzymatic activity. Genetic analysis of the coding regions of the ALG12 gene of the patient revealed a novel homozygous substitution mutation c.1439T>C p.(Leu480Pro) within Exon 10. Furthermore, both of the patient's parents and his twin sister were asymptomatic heterozygous carriers of the variant. This comprehensive genomic and glycomic approach led to the confirmation of the ALG12 pathogenic variant responsible for the clinical manifestation of the disorder in the patient described.

Foetal asphyxia as a strong stimulator of the sympathetic nervous system in the brain. Case Report.

The aim of the study was to analyse case report of prenatally unknown asphyxia of the foetus (a preterm newborn from the second pregnancy delivered by urgent caesarean section in 31st gestational week; birth weight 850 grams, birth length 41 cm, value of Apgar score 7/8) with signs of respiratory insufficiency immediately after birth with hypotonicity. The authors present the case of postnatal at the 1st day of life assessed cystic malformation in the brain of premature newborn. They emphasize the importance of detailed prenatal investigation as most important in preventing prenatal asphyxia and consequent complications. Central nervous system and especially white matter of the brain of the newborn is most vulnerable area of the brain. Together with oxidative stress after exceeding of antioxidant capacity belong among main factors that play an important role in the pathogenesis of hypoxic-ischemic encephalopathy.

Neonatal withdrawal syndrome and perinatal asphyxia. How to manage the patient? Case Report.

The aim of this work is to present the pitfalls of management of newborns with neonatal withdrawal syndrome (NWS) of different forms, which were complicated with the presence of severe perinatal asphyxia. The authors present some case reports of asphyxiated newborns of different gestational age with different forms of NWS. Prenatal and perinatal asphyxia determines the prognosis of future development of newborn. The combination of the asphyxia and NWS is stressful not only for the patient, but also for the physician. The most important step in management of this group of patients is to know the detailed mother's and patient's history and to perform detailed physical investigation. The optimal prenatal, perinatal and postnatal management with good cooperation between gynecologist and neonatologist can improve the quality of newborn's life. Care of newborn requires all the time teamwork.

Asphyxia in newborn--risk, prevention and identification of a hypoxic event.

The aim of this review is to present the summarisation of the knowledge about biochemical and clinical changes that occur under the influence of asphyxia as well as about the treatment. Results of experimental works in animal models bring us the explanation about many postasphyxiated changes and help us to understand the pathophysiological changes and consequences of asphyxia. The authors present the most prominent consequences of neonatal asphyxia in clinical and experimental conditions. Asphyxia significantly contributes to neonatal morbidity and mortality and determines the prognosis of future development. New insights into the pathophysiology of birth asphyxia provide the opportunity how to prevent permanent damage by the activation of the fundamental molecular processes. Care of newborn asphyxia requires teamwork. Prognosis of the asphyxiated newborn is still dependent on developmental stage (gestational age), the length and intensity of asphyxia, on the level of medical care.

Does nasal neuroglial heterotopia represent a risk for the newborn during delivery?

Neuroglial heterotopia is a rare developmental abnormality. Most frequently the diagnosis is established at birth or in early childhood by a typical clinical presentation. Neuroglial heterotopia can be intracranial or extracranial. A typical example of extracranial heterotopia is nasal glioma, which can be isolated or can communicate directly with the intracranium. The most sensitive investigation for the confirmation of its site is magnetic resonance imaging. Histological investigation is crucial in establishing the diagnosis. The authors present the case of postnatally assessed nasal glioma. They emphasize the importance of detailed prenatal investigation as most important in preventing birth trauma and consequent complications.

Subchronic perinatal asphyxia increased anxiety-and depression-like behaviors in the rat offspring.

OBJECTIVES: Perinatal asphyxia is one of the major cause of mortality in newborns and cause of neurological disorders in adulthood. Brain damage is of the most concern due to high sensitivity of nervous system to suboptimal intrauterine oxygen condition. The aim of this study was to assess effect of subchronic prenatal asphyxia (SPA) during sensitive stages of brain maturation on behavioral changes in rats, as a method of prenatal programming of anxiety and depression-like behavior. METHODS: Pregnant Wistar/DV females were exposed to environment containing lower oxygen (10.5% O2) during sensitive stages of brain maturation (day 19-20 of gestation) for 4h a day and anxiety- and depression-like behaviors in offspring were assessed using battery of behavioral tests--Open field (OF), Elevated plus maze (EPM), Light/dark test (L/D), Forced swim test (FST), and Stress induced hyperthermia (SIH). RESULTS: OF did not induced changes of locomotor and exploration activities. The anxiety-like behavior was induced by SPA in EPM and L/D. These results were significant in males SPA group only. The higher response to the stress stimulus in SIH was recorded in both males and females SPA group. The intensity of climbing on the walls of cylinder in FST in males SPA group was significantly decreased indicating depression-like behavior in adulthood. CONCLUSIONS: In conclusion, we found out that perinatal asphyxia on 19th and 20th day of gestation caused anxiety- and depression-like behaviors in the rat offspring. Our model of SPA has proved to be useful to study the conditions of asphyxia during pregnancy, and could be suitable model for studies uncovering the mechanisms of prenatal programming of psychiatric diseases.

Homage to genial anatomist - Andreas Vesalius.

The paper highlights the personality of the founder of modern anatomy, who was able to use his knowledge and skills to change the view on the construction of the human body extending over centuries. He introduced a new scientific approach and highlighted the importance of autopsies for understanding of human body which carefully demonstrated and documented. De humani corporis fabrica - the spectacular work, in which he summarized results of his theoretical and practical findings, has opened a new path for the study of anatomy. Andreas Vesalius became a pioneer in the history of medical education. In 2014 will pass 500 years since his birth.

Oxidative stress in twins.

OBJECTIVES: The aim of the study was to determine the value of the total antioxidant system (TAS) and level of malondialdehyde (MDA), and the activity of glutathione peroxidase, superoxide dismutase in the case of premature twins - identical twins, monozygotic, on the 1st and 5th day of life and to compare the values between the first-born twin A and the second-born twin B. RESULTS: We confirmed the difference between A and B twins in values of TAS and MDA, as well as the difference between the 1st and 5th day of life. CONCLUSION: The values of TAS, which show the total activity of antioxidant enzymes in a newborn's organism, reflect the ability of protection against oxidative stress before and during delivery. In the case of twin pregnancy, the value of TAS is crucial and determines the degree and severity of consequences of asphyxia. MDA values indicate the presence of lipoperoxidation.

Ideas that persist for centuries - by Erasmus of Rotterdam, the prince of humanists.

The paper highlights the personality of the founder of European student exchange program ERASMUS (EuRopean Community Action Scheme for the Mobility of University Students) Erasmus of Rotterdam. He was one of the leading European humanists and has left a literary legacy of large dimensions. His thoughts, ideas, opinions, and mainly the works have a great benefit for society even today. From 16th century to the present time they are the subject of unchanged interest.

From pediatric history. Important personalities in relation to some genetic defects - "trisomies".

The aim of this study is to present a short biography of some important physicians and describe the most prominent differences between trisomy 13, 18 and 21. The authors present the most prominent differences between trisomy 13, 18 and 21. The work of many important physicians, geneticists, has helped in the process of recognition of congenital anomalies. This group of famous persons includes Patau, Edwards and Down.

Sixty-year anniversary of the Apgar scoring system and 100-year anniversary of the "Moro" reflex.

It is well known that the names of discoverers are commonly used in medical terminology, especially in everyday use. The advantage of an eponym is that a complex description of a certain syndrome, surgical procedure, manifestations of a particular disease, or its details, can be expressed in a single word (Holománová & Brucknerová 2003). Current official anatomical nomenclatures do not use eponyms. Some exceptions do however exist. In pediatrics, we frequently use the names of two famous persons: Virginia Apgar and Ernst Moro.

The influence of malformation of Galen vein on the cardiovascular system in a newborn.

OBJECTIVES: Asphyxia of the newborn has a varied etiology. Clinical consequences have a broad spectrum of presentations. Arteriovenous malformation associated with an aneurysm of the Galen vein can be the cause of focal ischemic changes in the nervous parenchyma. RESULTS: The authors report a case of a term newborn (birth weight 4, 000 grams, Apgar score 7/9). Physical investigation confirmed the presence of a continuous murmur in the area of the anterior fontanelle. Ultrasonic investigation of the brain detected a huge arteriovenous malformation of the Galen vein. Ultrasonic investigation of the heart excluded structural anomaly, but confirmed a huge retrograde flow in the aorta descendens, opened ductus arterious with suspected formation of coarctation of the aorta and dilatation of the vena cava superior. CONCLUSION: Congenital anomaly of the Galen vein has a negative influence on prenatal and postnatal development of the brain of a newborn. In the case of our patient, it led to rapid severe asphyxiated changes of the brain parenchyma. Diagnosis and management were established, yet endovascular therapy was not indicated in the early neonatal period.

Newborn with neonatal form of molybdenum cofactor deficiency - the first patient in the Slovak Republic.

OBJECTIVE: To present the case of a term newborn with rapid progression of signs of neurodegenerative disease. RESULTS: In a case of a term newborn with numerous dysmorphic features, with seizure activity from the 3rd day of life, hypertonia and serious changes on brain parenchyma were presented. Diagnosis of molybdenum cofactor deficiency was confirmed by the decreased level of uric acid, 31 µmol/l, in serum, increased excretion of thiosulfate and S-sulfocysteine in urine, taurine (1729.3 µmol/mmol crea; normal range 30-300 µmol/mmol crea) and xanthine (276.9 µmol/mmol crea; normal range < 25 µmol/mmol crea) in urine. Sulfite oxidase activity on skin fibroblasts in culture was not detectable. The patient died at the age of 28 days of life. CONCLUSION: Deficiency of molybdenum cofactor leads to accumulation of toxic metabolites (levels of sulfite), which causes disturbances of neurotransmitters even before delivery. Therapy is symptomatic, no effective therapy is available. Seizures are difficult to suppress. This case report is about the first patient in Slovakia.

Conjugated hyperbilirubinaemia as the first manifestation of mevalonic aciduria in a term newborn.

OBJECTIVES: To present clinical and laboratory findings in the case of a term newborn with conjugated hyperbilirubinaemia and to stress the importance of differential diagnosis. RESULTS: A term newborn delivered by caesarean section (birth weight 2550 g, birth length 47 cm, value of Apgar score 9/10) with good direct adaptation had on the first day of life increased levels of conjugated bilirubin (23 micromol/l), unconjugated bilirubin (55 micromol/l) and C-reactive protein 39.4 g/l. The diagnosis of mevalonic aciduria was confirmed by urine analysis (mevalonolactone 393 micromol/mmol crea, normal range <2.0 micromol/mmol crea; mevalonic acid 40.5 micromol/mmol crea, normal range <0.04 micromol/mmol crea). CONCLUSION: Mevalonic aciduria can be clinically distinguished based on symptoms of neurological involvement. It can also present itself with hepatosplenomegaly, lymphadenopathy, anaemia, leukocytosis, increased sedimentation rates and levels of C-reactive protein. In cases of conjugated hyperbilirubinaemia of unknown aetiology it is important to exclude mevalonic aciduria by urine investigation for organic acids.

Clinical attitude to the patient with Non-syndromic Pierre Robin Sequence with the cleft of soft palate and uvula - The necessity of fibroscopic investigation.

Pierre Robin sequence is defined by a triplet of clinical signs in newborns: micrognathia, glossoptosis and tongue-based airway obstruction often accompanied by U-shaped cleft palate. The reported incidence is ranging from 1 to 8.500 to 30.000 newborns. Therapeutic management of Pierre Robin sequence is based on the degree of the airway obstruction. A priori management of such cases can be extremely challenging due to the phenotypic plethora of Pierre Robin Sequence. A ten-day male newborn diagnosed with Pierre Robin was referred to our department for investigation and management of severe airway obstruction. Oxygen support was administered immediately and further examination revealed micrognathia and tongue profusion through the U-shaped cleft palate resulting total obstruction in the rhinopharynx and the nasopharynx resulting in severe dyspnea. Clinical examination and as well further investigation did not reveal further congenital abnormalities. Fiberoptic nasotracheal investigation that confirmed total obstruction of the upper part of respiratory tract was followed by tracheostomy due to signs of persistent respiratory insufficiency. Our report describes the successful algorithm for management of Pierre Robin syndrome as well as highlights the importance of fiberoptic intubation in such rare case.