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).

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.

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).

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.

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.

Zika virus infection from a newborn point of view. TORCH or TORZiCH?

Zika virus (ZIKV) belongs to the group of viruses called arboviruses. Congenital Zika syndrome is a new disease with infectious teratogenic aetiology. The clinical symptoms are divided into morphological and functional. Most severe complication is the foetal brain disruption sequence that includes severe microcephaly, anomalies of the eyes and congenital contractions of joints. The aim of this paper was to review available facts about Zika virus infection from a newborn point of view in a form of the summary of all important information. Zika virus infection is a problem of past, present and future. Epidemics may occur because of global climate changes, also in countries where natural conditions for life of mosquitos are not present. This clearly indicates the need to continue developing of vaccines and specific antiviral drugs. Until this happens, we must adhere individual preventive measures. Zika virus has proven to us how it can affect the health of adults and neonates but also thinking of healthy people. Newborns with microcephaly on the front pages of the media caused in 2015 panic and fear around the world - for this reason education of people is necessary. Due to serious congenital disorders associated with ZIKV infection and global impact of virus we suggest modifying old acronym TORCH for new TORZiCH to accent the position of Zika virus.