Perinatalni moždani udar predstavlja akutni neurološki sindrom s kroničnim sekvelama, nastao uslijed oštećenja moždanog parenhima vaskularne prirode. Prema neuroradiološkom nalazu i vremenu kliničkog ...izražavanja razlikuju se: akutni, simptomski perinatalni infarkt, koji nastaje i izražava se u prvih 28 dana po rođenju i pretpostavljeni perinatalni infarkt, koji je nastao prenatalno, a izražava se odloženo, u vidu kroničnog, fokalnoga neurološkog oštećenja. Napredak u razumijevanju etiologije perinatalnoga cerebralnog infarkta može povoljno utjecati na smanjenje učestalosti ovog entiteta, prije svega odgovarajućim antenatalnim nadzorom i postnatalnim liječenjem. Bolje poznavanje kliničkih manifestacija i faktora rizika omogućilo bi brže prepoznavanje ovog sindroma i upućivanje pacijenata u centre s mogućnošću specifične neuroradiološke dijagnostike. Pravovremena primjena odgovarajuće terapije doprinijela bi očuvanju moždanih funkcija i oporavku oštećenih struktura. Antikoagulantni lijekovi su indicirani u specifičnim slučajevima arterijskoga ishemijskog infarkta i sinovenske tromboze. Neophodna je fizikalna terapiju u cilju poboljšanja neurološkog ishoda i prevencije trajnih neuroloških oštećenja.
•Congenital myotonic dystrophy type 1 (CMD1) is a rare neuromuscular disease.•CDM1 is characterized by neonatal hypotonia, weakness, feeding and respiratory difficulties.•Many CMD1 patients suffer ...from hypoxic ischemic encephalopathy (HIE).•HIE, preterm delivery, resuscitation and hypothermia treatment are poor prognostic factors for survival.•Respiratory insufficiency is the main life-threatening factor in CDM1.
Congenital myotonic dystrophy type 1 (CDM1) is a rare neuromuscular disease. The aim of our study was to evaluate clinical variability of CDM1 and factors that may influence survival in CDM1. Research included 24 pediatric patients with CDM1. Most of our patients had some form of hypoxic ischemic encephalopathy (HIE) (74 %), from mild to severe. Prolonged and complicated deliveries (75 %), high percentage of children resuscitated at birth (57 %) and respiratory insufficiency (46 %) with consequent hypoxia were the main reasons that could explain high percentage of HIE. Therapeutic hypothermia was applied in three children with poor outcome. Median survival of all CDM1 was 14.2 ± 1.5 years. Six patients had a fatal outcome (25 %). Their mean age of death was 3.0 ± 2.8 years. Poor prognostic factors for the survival of our CDM1 patients were: preterm delivery, resuscitation at birth, severe HIE, hypothermia treatment and permanent mechanical ventilation. Respiratory insufficiency was the main life-threatening factor. Our data clearly indicates the need to develop natural history studies in CDM1 in order to enhance the standards of care and to develop clinical trials investigating causative therapies in pediatric patients with CDM1.
Introduction/Objective. Vitamin K deficiency is common in newborn infants and without prophylaxis there is a risk of vitamin K deficiency bleeding (VKDB). The most frequent prophylactic approach is ...an intramuscular (IM) injection of vitamin K1 immediately after birth. Its efficiency to prevent late VKDB has been recently questioned by several reports. Based on our experience, we discuss the need for additional vitamin K1 supplementation after its IM administration at birth. Methods. We present a retrospective review of 12 infants, 11 with confirmed and one with probable late VKDB despite IM prophylaxis at birth, who were treated in the two largest tertiary care pediatric hospitals in Serbia during the last 15 years. Results. All the patients were exclusively breastfed. In 11 patients, daily weight gain was normal or increased, and one patient had failure to gain weight. Six infants were previously healthy, three infants received antibiotics prior to bleeding, and in two diarrhea and cholestasis, respectively, existed previously. An intracranial bleeding was documented in nine infants, four of whom died. Conclusion. Low content of phytomenadione in human milk could occasionally be attributed to late VKDB despite postnatal IM injection of vitamin K1 in otherwise healthy, exclusively breastfed infants. This might be aggravated by transient disturbance of vitamin K turnover due to antibiotic use, acute diarrhea, or transient cholestasis. We suggest that an additional vitamin K1 supplementation after postnatal IM prophylaxis could be justified in exclusively breastfed infants.
nema
Fetomaternal hemorrhage (FMH) is a transfu-sion of fetal blood into the maternal circulation. A volume of transfused fetal blood required to cause severe, life-threatening fetal anemia, is not ...clearly defined. Some authors suggest vol-umes of 80 mL and 150 mL as a threshold which defines mas-sive FMH. Therefore, a rate of massive FMH is 1 : 1,000 and 1 : 5,000 births, respectively. Fetal and neonatal anemia is one of the most serious complications of the FMH. Clinical manifesta-tions of FMH are nonspecific, and mostly it presented as re-duced fetal movements and changes in cardiotocography (CTG). The standard for diagnosing FMH is Kleihaurer-Betke test.
A 34-year-old gravida (G) 1, para (P) 1 was hospitalized due to uterine contractions at 39 weeks of gesta-tion. CTG monitoring revealed sinusoidal fetal heart rate and clinical examination showed complete cervical dilatation. Im-mediately after admission, the women delivered vaginally. Ap-gar scores were 1 and 2 at the first and fifth minute, respec-tively. Immediately baby was intubated and mechanical ventila-tion started. Initial analysis revealed pronounced acidosis and severe anemia. The patient received intravenous fluid therapy with sodium-bicarbonate as well as red cell transfusion. With all measures, the condition of the baby improved with normaliza-tion of hemoglobin level and blood pH. Kleihaurer-Betke test revealed the presence of fetal red cells in maternal circulation, equivalent to 531 mL blood loss. The level of maternal fetal hemoglobin (HbF) and elevated alpha fetoprotein also con-firmed the diagnosis of massive FMH.
For the successful diagnosis and management of FMH direct commu-nication between the obstetrician and the pediatrician is neces-sary as presented in this report.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, ODKLJ, PILJ, PNG, SAZU, UILJ, UKNU, UL, UM, UPUK
With 20-80% mortality, neonatal infection caused by herpes simplex virus
(HSV) or neonatal herpes is among the most severe of all perinatal
infections. The majority of neonatal HSV infections are ...acquired during
delivery, although in utero and postnatal infections do occur. Primary
maternal infection is associated with a high rate of transmission (~50%),
compared to <3% in infants of women with reactivated disease. Other factors
that influence transmission include HSV type, premature delivery, etc.
Clinical manifestations have been classified into three forms: skin-eye-mouth
disease, CNS and disseminated disease. The diagnosis of neonatal HSV
infection includes the detection of HSV DNA by PCR in samples from neonate
and mother. The incidence of neonatal herpes differs widely between different
countries. In Serbia, the data about neonatal herpes incidence are scarce.
The results of our pilot study showed that the minimal estimation of the
national incidence of neonatal herpes is 7.5 per 100 000. Therefore, the set
up and implementation of a national neonatal herpes surveillance system might
provide valuable information for the accurate assessment of disease burden
and development of an effective prevention strategy in Serbia.
Introduction/Objective. Air leak syndrome is more frequent in neonatal period than at any other period of life. Its timely recognition and treatment is a medical emergency. We present results of a ...tertiary medical center in treatment of air leak syndrome in term and late preterm neonates. Methods. Neonates born between 34th 0/7 and 41st 6/7 gestational weeks (g.w.) who were treated for air leak syndrome in the Neonatal Intensive Care Unit of Mother and Child Health Care Institute, from 2005 to 2015 were included in the study. Antropometric data, perinatal history, type of respiratory support prior to admission, chest radiography, type of pulmonary air leak syndrome and its management, underlying etiology, and final outcome were analyzed. Results. Eighty-seven neonates of an average gestational age 38.1 ? 1.9 g.w. were included in the study. The average birth weight was 3182.5 ? 55.5 g. Fourty-seven (54%) were born by cesarean section and 40 (46%) were born by vaginal delivery. Prior to admission, 62.1% received supplemental oxygen, 4.6% were on nasal continuous positive airway pressure, and 21.8% were on conventional mechanical ventilation. Type of delivery did not significantly affect the appearance of pneumothorax, nor did the type of respiratory support received prior to admission (p > 0.05). The majority (93.1%) had pneumothorax, which was unilateral in 79%. The length of mechanical ventilation significantly affected the appearance of pneumothorax (p = 0.015). Low Apgar score in the first minute and the presence of pneumopericardium were significant factors predisposing for an unfavorable outcome. Conclusion. Improving mechanical ventilation strategies and decreasing the rate of perinatal asphyxia in term and late preterm neonates could diminish the incidence of pulmonary air leak syndrome in this age group.
nema
The aim of this study was to evaluate the predictive value of the features of neonatal seizures for pharmacoresistant epilepsy in children.
This is a retrospective study that involved all children ...diagnosed as having epilepsy who had neonatal seizures and who were hospitalized at the Neurology Department of the Mother and Child Healthcare Institute in Belgrade from January the 1st 2017 until December 31st 2017. The following parameters and their impact on the outcome were investigated: perinatal data, the characteristics of epileptic seizures in the neonatal period, and the response to anticonvulsant treatment. The presence of pharmacoresistance was observed as an outcome parameter. Univariate and multivariate logistic regression analyses were used to define predictors of drug-resistant epilepsy.
The study involved 55 children, 35 (63.6%) male and 20 (36.4%) female. The average age of the children at the end of the observation period was 5.17 years (min: 0.25, max: 17.75, iqr (interquartile range): 6.92). Pharmacoresistant epilepsy was found in 36 (65.5%) children. The most common type of epilepsy was focal, which affected 30 patients (54.5%), than generalized, which affected 15 patients (27.3%), and combined generalized and focal, which affected 8 patients (14.5%). At the end of the observation period, 28 patients (50.9%) had no seizures, while 14 (25.5%) had daily seizures. It was found that the pharmacoresistant neonatal seizures and metabolic–genetic disorders were predictive factors of the occurrence of pharmacoresistant epilepsy.
Patients prone to developing pharmacoresistant epilepsy might be identified as early as the neonatal and early infant period. High incidence of asphyxia cooccurring with established genetic–metabolic disease further emphasizes need for genetic testing in infants with neonatal seizures including in the presence of hypoxic–ischemic injury.
•The study involved 55 children, 35 (63.6%) male and 20 (36.4%) female.•Pharmacoresistant epilepsy was found in 36 (65.5%) children.•Patients prone to developing pharmacoresistant epilepsy can be identified as early as the neonatal and early infant age.•A poor seizure control, inborn errors of metabolism and genetic disorders are predictive factors.
Intravenous immunoglobulin is a blood product made of human polyclonal immunoglobulin G. The mode of action of intravenous immunoglobulin is very complex. It is indicated in treatment of neonatal ...immune thrombocytopenia and haemolytic disease of the newborn. The aim of the study was to present our experience in the use of intravenous immunoglobulin in a group of term neonates.
We analysed all relevant clinical and laboratory data of 23 neonates who recieved intravenous immunoglobulin during their hospitalization in Neonatal Intensive Care Unit of Mother and Child Health Care Institute over a five year period, from 2006. to 2010.
There were 11 patients with haemolytic disease of the newborn and 12 neonates with immune thrombocytopenia. All of them recieved 1-2 g/kg intravenous immunoglobulin in the course of their treatment. There was no adverse effects of intravenous immunoglobulin use. The use of intravenous immunoglobulin led to an increase in platelet number in thrombocytopenic patients, whereas in those with haemolytic disease serum bilirubin level decreased significantly, so that some patients whose bilirubin level was very close to the exchange transfusion criterion, avoided this procedure.
The use of intravenous immunoglobulin was shown to be an effective treatment in reducing the need for exchange transfusion, duration of phototherapy and the length of hospital stay in neonates with haemolytic disease. When used in treatment of neonatal immune thrombocytopenia, it leads to an increase in the platelet number, thus decreasing the risk of serious complications of thrombocytopenia.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, ODKLJ, PILJ, PNG, SAZU, UILJ, UKNU, UL, UM, UPUK
Background
The aim of this meta-analysis was to analyze all available data from studies investigating associations between polymorphisms in genes responsible for innate immunity and neonatal sepsis ...development.
Methods
A comprehensive literature search, reported following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses-S guidelines, was performed with no language restriction. Studies derived using the PICO (population, intervention, comparison and outcomes) strategy, with data on the genotype distribution for innate immunity gene polymorphisms in newborns with and without sepsis. Data were analyzed using Review Manager. The Cochran–Mantel–Haenszel test was used to calculate odds ratios with 95% confidence intervals. Heterogeneity was tested using the
I
2
index.
Results
From a total of 9428 possibly relevant articles, 33 qualified for inclusion in this systematic review. According to the STrengthening the REporting of Genetic Association Studies, 23 studies were found to be of moderate quality, while 10 were of low quality. The results showed an association of the mannose-binding lectin (
MBL
) exon 1 genetic polymorphism with the risk of culture-proven sepsis. Toll-like receptor (
TLR
) 4 rs4986791 genotype distribution suggests its association with the increased risk of culture-proven sepsis. The certainty of evidence per GRADE (Grading of Recommendations, Assessment, Development, and Evaluation) varied from very low to low. Publication bias was not detected.
Conclusions
Out of the 11 investigated single-nucleotide polymorphisms, this meta-analysis found a possible association between the risk for culture-proven sepsis and
MBL
exon 1 and
TLR4
rs4986791 polymorphisms. There is an evident need for larger well-designed, multicentric observational studies investigating inflammatory gene polymorphisms in neonatal sepsis.
Persistent hypoglycaemia in newborns and infants is most commonly caused by congenital hyperinsulinism (CHI). Most CHI studies report outcomes in children from both consanguineous and ...non-consanguineous families which can affect the phenotype-genotype analysis. The aim of this study was to analyze characteristics of patients with CHI in 21 non-consanguineous families from Serbia. This retrospective cohort study included a total of 21 patients with CHI treated in the Mother and Child Healthcare Institute of Serbia during the past 20 years. The prevalence of macrosomia at birth was very low in our cohort (4.8%). Median age at presentation was 6 days, with seizures as the presenting symptom in 76% of patients. Only four patients (19%) were diazoxide unresponsive, and eventually underwent pancreatectomy. Genetic testing was performed in 15 patients and genetic diagnosis was confirmed in 60%, with all patients being heterozygous for detected mutations. The
ABCC8
gene mutations were detected in 55.6%,
GLUD1
in three patients (33.3%) with HIHA syndrome and one patient had
HNF4A
gene mutation and unusual prolonged hyperglycaemia lasting 6 days after diazoxide cessation. Neurodevelopmental deficits persisted in 33% of patients.
Conclusion
: This is the first study regarding CHI patients in Serbia. It suggests that in countries with low consanguinity rate, majority of CHI patients are diazoxide responsive. The most common mutations were heterozygous
ABCC8
, followed by
GLUD1
and
HNF4A
mutations, suggesting the potential benefit of population-tailored genetic analysis approach, targeting the mutations causing CHI via dominant inheritance model in regions with low consanguinity rates.
What is Known:
• Persistent hypoglycaemia during infancy and early childhood is most commonly caused by congenital hyperinsulinism (CHI).
• Consanguinity is a very important factor regarding the genetics and phenotype of CHI, increasing the risk of autosomal recessive genetic disorders, including the severe, diazoxide-unresponsive forms caused by recessive inactivating mutations in ABCC8 and KCNJ11.
What is New:
• Results of the present study which included CHI patients from 21 non-consanguineous families suggest that in countries with low consanguinity rates, majority of CHI patients can be diazoxide responsive, with most common mutations being heterozygous ABCC8, followed by GLUD1 and HNF4A mutations.
• Unusually prolonged hyperglycaemic reaction to diazoxide treatment in a patient with HNF4A mutation was also described in the present study.
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