Minor Malformations: Neonatal or Anthropological Story?

Minor malformations (mM) are mild physical deformities that with their incidence, number and evolution may be external indicators of hidden, more serious disorders. Most often these are recognized by the neonatologists. First studies done some forty years ago showed an average incidence of 15% in the general population of newborns and about 50% in children with major malformations (MM). A study done in Maternity Hospital Mostar covering a one-year cohort of the newborns and assessing 38 mM showed an average incidence 23.7% mM in children without MM. Twelve mM have had a frequency above 1%, many of them in the head region. The most frequent specific mM was a deep sacral dimple (4.6%). Eighteen mM malformations that appeared more often were re-evaluated three months later. A large part (50–80%) disappeared, but a small number (about 17%) were newly discovered. In the newborns with MM, the incidence of mM was 57.5%. 15 of 23 children with MM (65.2%) had more than three associated mM. The highest percentage was in the group of hypotrophic newborns. The connection of mM with MM and specificity of incidence of mM in one population are the reason why the search for mM in the neonatal period could be benefit also for children and whole population

Koegzistencija sinkronog bilateralnog Wilmsova tumora i trisomije 21 – prvi prikaz i pregled literature

Introduction: Bilateral form of the Wilms tumor appears only in 5% of cases, and incidence in children before the age of 15 years is about 1: 250,000. Contrary to expectations, large population-based studies have shown that incidence of Wilms tumor is much lower in population with trisomy 21 than in the general population. To our knowledge, this is the first reported case of synchronous bilateral Wilms tumor appearing in patient with trisomy 21. Case report: 19-months-old male, previously known for trisomy 21, was admitted to hospital because of chronic constipation and abdominal pain. A month ago the child started to cry and suffer pain during defecation. He had last stool seven days before the examination. Abdominal palpation in left hypochondriac region revealed solid mass of about 6x6 cm in size. Ultrasound and Multislice Computed Tomography showed tumor on both kidneys; right smaller, and left larger - destroying most of the parenchyma and causing bowel obstruction. After 3 weeks of chemotherapy, left radical nephrectomy and right partial nephrectomy were made. 28-week chemotherapy continued postoperatively. Histopathology confirmed diagnosis of Wilms tumor. After recovery, the patient had a sufficient renal function. Conclusion: Coventional treatment with a combination of chemotherapy and surgical resection showed a good long-term outcome. However, in these cases special caution should be focused on the quantity of preserved renal tissue, because of an increased risk of renal failure.Uvod: Bilateralna forma Wilmsovog tumora javlja se samo u 5% slučajeva, a incidencija kod djece do 15. godine života iznosi oko 1:250 000. Suprotno očekivanjima, velike population-based studije pokazale su da je incidencija Wilmosovog tumora kod trisomije 21 mnogo manja nego kod opće populacije. Prema našim saznanjima, ovo je prvi prijavljeni slučaj sinkronog bilateralnog Wilmsovog tumora kod pacijenta s trisomijom 21. Prikaz slučaja: Muško dijete u dobi od 19 mjeseci, od ranije poznato zbog trisomije 21, dovedeno zbog kronične opstipacije i boli u trbuhu. Prije mjesec počeo se mučiti i plakati za vrijeme defekacije. Nije imao stolicu 7 dana pred pregled. Kliničkim pregledom se palpacijom lijevo hipohondralno pipala tvorba 6x6 cm. Ultrazvuk i višeslojna kompjuterizirana tomografija pokazali su u svakom bubregu po jednu tumorsku tvorbu; desno manju, a lijevo veću - koja destruira veći dio parenhima i urokuje opstukciju kolona. Nakon 3 tjedna kemoterapije, napravljena je lijevostrana radikalna nefrektomija i desnostrana parcijalna nefrektomija. Postoperativno je nastavljena kemoterapija u trajanju 28 tjedana. Patohistološka analiza potvrdila je dijagnozu Wilmsovog tumora. Nakon oporavka pacijent je imao zadovoljavajuću renalnu funkciju. Zaključak: Konvencionalno liječenje kombinacijom kemoterapije i kirurške resekcije imalo je dobar dugoročni ishod. Ipak, u ovakvim slučajevima poseban oprez je potrebno usmjeriti na količinu očuvanog renalnog tkiva, zbog povećanog rizika od bubrežnog zatajenja

EPIDEMIOLOGICAL CHARACTERISTICS OF CHILDREN BORN ITH DOWN SYNDROME IN WESTERN HERZEGOVINA IN THE PERIOD OF THE LAST TWENTY YEARS (1994-2013)

Background: Children with Down syndrome (DS) are an everyday casuistry of pediatric clinical medicine. The prevalence of DS is dependent on socio-demographic and cultural conditions of a community. Antenatal screening is not carried out mainly due to religious views, and the prevalence of DS in our region is really considered a "natural phenomenon“. The aim of the study was to analyze some epidemiological characteristics of infants with Down syndrome in the western region of Herzegovina in the period between year 1994-2013. Subjects and methods: We performed a retrospective analysis of hospital records of children who were supervised and treated at Children\u27s Hospital through the twenty-year period. Results: In this period there were 44,100 liveborn infants. Down syndrome was detected in 78 children (54 male and 24 female). The prevalence is estimated at 1.8/1,000 of live births. Aborted fetuses and stillbirths were not analyzed. 37 (47%) of the parent couples were over 35 years of age. Out of that 65 cytogenetic analysis, a regular type of trisomy 21 was found in 94% of cases, and the translocation in 6%. From major malformations (MM) heart failure was more often present (47%), then the anomaly of the gastrointestinal and genitourinary systems. Ten children (12%) died, most often in the early period of infancy due to complications of the cardiovascular system. Conclusion: The prevalence of DS throughout these two decades has been uniform in the region of western Herzegovina. Improvement in perinatal care in recent years caused higher survival and a better quality of life for the children with DS and thus their families. DS is less a desirable family tragedy, and increasingly a tolerable family fate

The impact of demographic and socio-economic factors on the prevalence of syndromes of autosomal chromosomal anomalies in post-war Bosnia and Herzegovina

Uvod: Sindromi autosomnih kromosomskih anomalija imaju prevalenciju od 1 : 500 kod živorođene djece, a često su praćeni teškim zdravstvenim i društvenim problemima. Osim starije dobi majke u trenutku začeća, malo se zna o faktorima rizika za njihov razvoj. Ispitanici i metode: U istraživanju je sudjelovalo 97 ispitanika s dijagnosticiranim sindromima autosomnih kromosomskih anomalija rođenih u razdoblju od 2000. do 2015., s mjestom stanovanja u tri županije Federacije Bosne i Hercegovine. Provedeno je povijesno kohortno istraživanje, a analizirana je prevalencija sindroma s obzirom na mjesto stanovanja roditelja u ruralnoj ili urbanoj sredini te na indeks razvijenosti općina iz kojih dolaze. Rezultati: Od 50 458 živorođene djece u razdoblju od 2000. do 2015. godine sindromi autosomnih kromosomskih anomalija otkriveni su u 97 (0,19%) novorođenčadi. Od ukupnog broja živorođene djece 21 116 ih je rođeno u urbanom području, a 29 342 u ruralnom području. U istom je periodu u urbanom području zabilježeno 30 (0,14%), a u ruralnom 67 (0,23%) oboljelih. Prevalencija sindroma autosomnih kromosomskih anomalija u 11 različitih općina, razvrstanih po indeksu razvijenosti, u razdoblju od 2007. do 2015. godine bila je 0,19% u skupini općina indeksa razvijenosti > 100, a 0,30% u skupini < 100. Zaključak: Analizom prevalencije sindroma autosomnih kromosomskih anomalija utvrđeno je da je mjesto stanovanja roditelja u ruralnoj sredini Federacije Bosne i Hercegovine čimbenik rizika za njihov razvoj.Introduction: Syndromes of autosomal chromosomal anomalies have a prevalence of 1: 500 in live-born children and are often associated with severe health and social problems. Except for the advanced maternal age at the moment of conception, little is known about the risk factors for their development. Respondents and Methods: The respondents in this research were 97 children diagnosed with syndromes of autosomal chromosomal anomalies, born from 2000 to 2015, with a place of residence in 3 municipalities of Federation of Bosnia and Herzegovina. A chronologic cohort research has been conducted. The prevalence of syndromes was analyzed with respect to the parents’ place of residence (rural or urban area) and theirs municipality development index. Results: Of 50,458 live-born children, between 2000 and 2015, syndromes of autosomal chromosomal anomalies were detected in 97 (0.19%) newborns. Out of the total number of live-born children, 21116 were born in the urban area, and 29342 in the rural area. In the same period in the urban area, there were 30 (0.14%) and in rural 67 (0.23%) affected. The prevalence of syndromes of autosomal chromosomal anomalies in 11 different municipalities, classified by the development index, in the period from 2007 to 2015, was 0.19% in the group of municipalities with the development index > 100, and 0,30% in the group with <100. Conclusion: Analyzing the prevalence of syndromes of autosomal chromosomal anomalies it has been established that the parents’ place of residence in the rural area of the Federation of Bosnia and Herzegovina is a risk factor for their occurrence

Vasodilatory Prostaglandins in Perinatal Hypoxic Brain Damage

Prostaglandin (PGE2 and PGI2) synthesis was determined in the cerebrospinal fluid (CSF) and serum of 19 hypoxic neonates at the age of 5–96 hours by using Enzyme Linked Immunosorbent Assay (ELISA) method. Control group consisted of 8 children of the same age whose samples were taken due to initial suspicion of neonatal meningitis. The prostaglandin concentrations in CSF were correlated with initial hypoxic-ischemic encephalopathy (HIE) stage and neurological findings of patients at the age of 12 months. The values of PGE2 and PGI2 in the CSF of children with perinatal hypoxia (PNH) were significantly higher than in the children from the control group. The values of PGI2 in serum were significantly higher than in »CSF« of patients with PNH. Although average values of PGE2 and PGI2 in the liquor were higher in children with advanced stage of HIE, the differences between different stages were not statistically significant. We did not find any significant correlation between average concentrations of prostaglandins and neurological findings of the 12-month-old children

Intensive care of newborn with edwards syndrome – case report

Introduction. Edwards syndrome is the second most common autosomal chromosome anomaly in humans, with a prevalence of 1: 6,000–1: 8,000 in live births. The syndrome includes a recognizable pattern of major and minor anomalies, and prominent psychomotor and cognitive impairments. It carries an increased risk of neonatal and infant mortality. More than 50% of children die in the fi rst week of their life, and less than 10% of them survive until the age of one year. The approach to the treatment of such patients has so far caused many controversies among pediatricians. Whereas some believe that the use of intensive therapy prolongs survival, others believe that it has no long-term effect and due to the severe psychomotor and cognitive impairment its application is not justifi ed. Case report. A female newborn, born on January 11th, 2014, immediately after birth, was transferred to Neonatal Intensive Care Unit of Department of Pediatrics, University Clinical Hospital Mostar, because of hypotonia, pale-grayish color of the skin, defi cient spontaneous motor skills and respiratory insuffi ciency. Clinically, the newborn showed phenotypic characteristics typical of Edwards syndrome. Immediately upon receipt the patient was intubated and connected to mechanical ventilation. The same day diaphragmatic hernia was diagnosed and a corresponding surgery was performed. Cytogenetic fi ndings confirmed complete trisomy 18. Heart echography showed VSD input type (size 8 mm), ASD II (5 mm), PDA (3 mm). Further diagnostic examination showed other congenital malformations with less clinical importance. After stabilization, the patient continued post-intensive treatment with cardiac therapy and physiatric treatment. After being discharged, the patient was repeatedly hospitalized, among other things due to the development of pulmonary hypertension and its complications. The child died in June 2016 of heart failure at the age of two years and six months. Conclusion. The application of intensive treatment had a certain impact on our patient’s survival. It has also been shown that intensive care is followed by cardiovascular events as major mechanisms of death, as opposed to non-invasive approach where high percentage of deaths are associated with central apnea

Vasodilatory Prostaglandins in Perinatal Hypoxic Brain Damage

Prostaglandin (PGE2 and PGI2) synthesis was determined in the cerebrospinal fluid (CSF) and serum of 19 hypoxic neonates at the age of 5–96 hours by using Enzyme Linked Immunosorbent Assay (ELISA) method. Control group consisted of 8 children of the same age whose samples were taken due to initial suspicion of neonatal meningitis. The prostaglandin concentrations in CSF were correlated with initial hypoxic-ischemic encephalopathy (HIE) stage and neurological findings of patients at the age of 12 months. The values of PGE2 and PGI2 in the CSF of children with perinatal hypoxia (PNH) were significantly higher than in the children from the control group. The values of PGI2 in serum were significantly higher than in »CSF« of patients with PNH. Although average values of PGE2 and PGI2 in the liquor were higher in children with advanced stage of HIE, the differences between different stages were not statistically significant. We did not find any significant correlation between average concentrations of prostaglandins and neurological findings of the 12-month-old children

Intensive care of newborn with edwards syndrome – case report

Introduction. Edwards syndrome is the second most common autosomal chromosome anomaly in humans, with a prevalence of 1: 6,000–1: 8,000 in live births. The syndrome includes a recognizable pattern of major and minor anomalies, and prominent psychomotor and cognitive impairments. It carries an increased risk of neonatal and infant mortality. More than 50% of children die in the fi rst week of their life, and less than 10% of them survive until the age of one year. The approach to the treatment of such patients has so far caused many controversies among pediatricians. Whereas some believe that the use of intensive therapy prolongs survival, others believe that it has no long-term effect and due to the severe psychomotor and cognitive impairment its application is not justifi ed. Case report. A female newborn, born on January 11th, 2014, immediately after birth, was transferred to Neonatal Intensive Care Unit of Department of Pediatrics, University Clinical Hospital Mostar, because of hypotonia, pale-grayish color of the skin, defi cient spontaneous motor skills and respiratory insuffi ciency. Clinically, the newborn showed phenotypic characteristics typical of Edwards syndrome. Immediately upon receipt the patient was intubated and connected to mechanical ventilation. The same day diaphragmatic hernia was diagnosed and a corresponding surgery was performed. Cytogenetic fi ndings confirmed complete trisomy 18. Heart echography showed VSD input type (size 8 mm), ASD II (5 mm), PDA (3 mm). Further diagnostic examination showed other congenital malformations with less clinical importance. After stabilization, the patient continued post-intensive treatment with cardiac therapy and physiatric treatment. After being discharged, the patient was repeatedly hospitalized, among other things due to the development of pulmonary hypertension and its complications. The child died in June 2016 of heart failure at the age of two years and six months. Conclusion. The application of intensive treatment had a certain impact on our patient’s survival. It has also been shown that intensive care is followed by cardiovascular events as major mechanisms of death, as opposed to non-invasive approach where high percentage of deaths are associated with central apnea

EPIDEMIOLOGICAL CHARACTERISTICS OF CHILDREN BORN ITH DOWN SYNDROME IN WESTERN HERZEGOVINA IN THE PERIOD OF THE LAST TWENTY YEARS (1994-2013)

Background: Children with Down syndrome (DS) are an everyday casuistry of pediatric clinical medicine. The prevalence of DS is dependent on socio-demographic and cultural conditions of a community. Antenatal screening is not carried out mainly due to religious views, and the prevalence of DS in our region is really considered a "natural phenomenon“. The aim of the study was to analyze some epidemiological characteristics of infants with Down syndrome in the western region of Herzegovina in the period between year 1994-2013. Subjects and methods: We performed a retrospective analysis of hospital records of children who were supervised and treated at Children\u27s Hospital through the twenty-year period. Results: In this period there were 44,100 liveborn infants. Down syndrome was detected in 78 children (54 male and 24 female). The prevalence is estimated at 1.8/1,000 of live births. Aborted fetuses and stillbirths were not analyzed. 37 (47%) of the parent couples were over 35 years of age. Out of that 65 cytogenetic analysis, a regular type of trisomy 21 was found in 94% of cases, and the translocation in 6%. From major malformations (MM) heart failure was more often present (47%), then the anomaly of the gastrointestinal and genitourinary systems. Ten children (12%) died, most often in the early period of infancy due to complications of the cardiovascular system. Conclusion: The prevalence of DS throughout these two decades has been uniform in the region of western Herzegovina. Improvement in perinatal care in recent years caused higher survival and a better quality of life for the children with DS and thus their families. DS is less a desirable family tragedy, and increasingly a tolerable family fate

Correspondence: Probiotic (Lactobacillus reuteri Protectis) in premature infants – Authors’ reply

Dear Editor, We thank the authors for their interest and comments on our paper. They have raised some very valid points. This corrispondence refers to the following article: Jerković Raguž M, Brzica J, Rozić S, Šumanović Glamuzina D, Mustapić A, Novaković Bošnjak M, Božić T. The impact of probiotics (Lactobacillus reuteri Protectis) on the treatment, course and outcome of premature infants in the Intensive Care Unit in Mostar. J Pediatr Neonat Individual Med. 2016;5(2):e050228. doi: 10.7363/050228. Comments can be found in the following article: Mandal A, Sahi PK. Correspondence: Probiotic (Lactobacillus reuteri Protectis) in premature infants. J Pediatr Neonat Individual Med. 2017;6(1):e060129. doi: 10.7363/060129