Azerbaijan Journal of Perinatology and Pediatrics

Mental retardation syndrome associated with homozygous med25 mutation

2024-09-25T00:45:59-06:00

Basel Vanagaite Smirin Yosef syndrome is a rare genetic mental deficiency syndrome caused by an autosomal recessive mutation of the MED 25 gene. Features such as severe physical and psychomotor retardation, microcephaly, visual pathologies such as congenital cataracts, congenital heart defects, genitourinary anomalies, musculoskeletal pathologies, variable craniofacial signs and seizures are common clinical features in most patients. This article describes Basel Vanagaite Smirin Yosef syndrome with a p.(C.518 T>C p.Ile173Thr) homozygous mutation in MED25 using exome sequencing.

Clinical observation of a newborn with suspected Bartter’s disease

2024-09-24T05:56:45-06:00

Early diagnosis of Bartter syndrome in an extremely low birth weight baby is a clinical challenge because of the inherent renal immaturity and the instability of fluid-electrolyte balance. How-ever, once a diagnosis is made, the disorder is known to respond well to fluid and electrolyte management, prostaglandin inhibitors, and potassium-sparing diuretics allow successfully manage the existing pathology and avoid possible complications. Herein, we report a case of suspected neonatal Bartter syndrome, a rare and life-threatening condition characterized by metabolic alkalosis, hypokalemia, hypercalciuria, nephrocalcinosis, polyuria, and dehydration.in a very premature ELBW infant.

Osteogenesis imperfecta: сlinical observation

2024-09-25T00:31:46-06:00

Osteogenesis imperfecta (OI) is a group of rare hereditary connective tissue diseases, the common feature of which is excessive bone fragility caused by collagen mutations. Diagnosis is mainly based on the clinical features of the disease. In this article we present a case of a newborn male child born to a 47-year-old woman.

The role of SIGIRR in formation of necrotizing enterocolitis in infants with intrauterine infection

2024-09-23T02:30:28-06:00

Necrotizing Enterocolitis is one of the actual problems of neonatology, that primarily affects premature infants, particularly those born before 32 weeks of gestation. The aim of this study is to investigate the role of genetic factors in the development of both necrotizing enterocolitis and intra- uterine infection, exploring the possible links between these two conditions. A total of 52 with NEC and 10 healthy, were included in this study. All the examined children with NEC were divided into 2 groups: 19 newborns with intrauterine infection (1st subgroup), 33 infants without intrauterine infection (2nd subgroup). It was determined SIGIRR gene mutations with DNA isolation and standardized PCR reactions. It was found that C58 gene locus changes is a potential predictive marker for differentiating between infants with intrauterine infection and NEC and those without these conditions. Genetic screening may help identify infants at higher risk of developing NEC, allowing for targeted
interventions and personalized care.

Morbidity rates in children with congenital infections in the first year of life

2024-09-24T03:02:30-06:00

Congenital infections have a serious impact on the health of newborns and infants, affecting their physical and neurological development. The purpose of our study was to study the effect of congenital infections on the further development of children; for this aim was studied the incidence of these children in the first year of life. The study included 158 children with congenital infection (main group), who were divided into subgroups of term and preterm children depending on gestational age.
The results of our study show a high incidence of diseases of the respiratory system and nervous system, as well as diseases of the blood and hematopoietic organs in the first year of life in both term and preterm children born with congenital infection. In addition, congenital anomalies, ear and skin diseases are a significant problem, especially in preterm babies.

Multisystem inflammatory syndrome in newborn

2024-09-23T04:30:41-06:00

Neonatal multisystem inflammatory syndrome (Multisystemic inflammatory syndrome in newborns, MIS-N) is an inflammatory process associated with SARS-CoV-2 in which there is an activation of the immune system, the release of pro-inflammatory cytokines and inflammation markers, multiple organ failure, which can be the cause of death in newborns. Clinical manifestations of the multisystem inflammatory syndrome are non-specific, especially in premature infants, usually in newborns there is temperature lability, weak sucking, lethargy; respiratory disorders, cardiovascular failure. If you suspect MIS-N in the blood, you should determine Ig G and Ig M to SARS-CoV2, the level of inflammatory markers (C-reactive protein, procalcitonin), ferritin, D-dimer, NT-Pro BNP, IL-6, which will allow you to make a timely diagnosis, prescribe appropriate treatment and thereby prevent the death of newborns. For a more indepth understanding of the SARSCoV-2 flow characteristic of the infection in newborns, larger epidemiological and clinical cohort research is needed.

Сharacteristics of metabolic processes in neonates with perinatal asphyxia

2024-09-23T03:35:08-06:00

The aim of the study is to evaluate the role of metabolic processes in organ and system damage in newborns with perinatal asphyxia. 98 newborns (54 premature, 44 full-term) with perinatal asphyxia (PA) were included in the study. The severity of the condition of the examined children was determined according to the NEOMOD scale in the early neonatal period. Newborns are divided into 2 groups; The 1st main group included 58 children who were evaluated with the maximum score (5 points and higher) in the early neonatal period, and 40 children who were evaluated with a score of 4 points and less were assigned to the 2nd comparison group. The concentration of serotonin, lipid peroxidation indicators, antioxidant system and Ca, P homeostasis in newborns who underwent PA were determined by biochemical and immunoassay methods on days 5-7, 10-14 and 24-28 in the dynamics of the neonatal period. During the examination of metabolic processes in newborns who underwent PA, it was found that this process changes depending on the severity of the child’s condition and gestational age in the dynamics of the neonatal period and leads to organ and system damage. It has been established that identifying severe metabolic changes can lead to timely prevention of these injuries

Significance of oxygenation parameters in preterm infants with respiratory distress syndrome

2024-09-24T03:30:23-06:00

The aim of the study is to study the importance of oxygenation indicators: Alveolar–arterial gradient (AaDO2) and Oxygenation Index (Oİ) in diagnosing and predicting the course of respiratory distress syndrome (RDS) in premature babies. Materials and methods of the study: 28 extremely low birth weight infants were included in the study. 12 of them (42.9%) were evaluated with Apgar scale ≤6 points, Silverman scale with 7±3 points in the first 20 minutes. RDS was confirmed in 11 (39.2%) and pneumonia in 17 (60.8%). 23 (82.1%) patients needed invasive mechanical ventilation. The number of deaths among them was 16 (57.1%). The study showed that the need for invasive mechanical ventilation in children with extremely low birth weight was associated with high values of Aa DO2 and OI, especially with FiO2 ≥ 50% in the gas-air mixture, Aa DO2 426.7 ± 225.8 mm Hg and OI 9.63±5.57, which correlated with the duration of artificial ventilation, oxygen dependence and mortality of premature infants.

Результаты хирургических аспектов комплексного лечения суб и декомпенсированных форм хронических колостазов у детей

2024-09-23T05:23:52-06:00

In 358 patients with subclinical and decompensated CHC, cardiac, clinical and radiological and additional examination complexes were carried out. Various organic causes were identified, due to anatomical, muscular and functional disorders of the distal (large intestine) LI and their results were generally assessed in the ball system. In this case, the total, over 12 points and conservative treatment is ineffective, the relative indications to the operation were determined. If more than 18 points, and revealed additional bends, lengthening, narrowing, incomplete fixation, rotation and rigidity of the LI, with clinical complete violations of the motor-evacuation function of the LI, direct indications for surgical treatment were determined. 315 (88%) patients had good results from complex conservative treatment. In 43(12%) patients, indications for surgical treatment were determined with: no effect of prolonged ongoing conservative treatment, an increase in the phenomena of chronic colonic obstruction with decompensated flow and a progressive worsening of the patient’s condition. When choosing the methods of operation, the age of the patients, the nature and localization of the pathology of the LI were taken into account.

State of myocardial de- and repolarization in children with minor developmental anomalies of the atroventricular and aortic heart valves

2024-09-23T03:53:16-06:00

152 people aged 6-17 years were examined to determine the state of myocardial de- and repolarization in school-age children with mitral valve and bicuspid aorta prolapse, which are the most common minor anomalies of cardiac development among children. Mathematical and statistical analysis of QTc, QTc max, QT c min, dQTc indicators was carried out on 12 standard ECGs of children. Although changes in both groups were less significant in young school-age children, in children 12–17 years of age with mitral valve prolapse, dQT fluctuations were noticeable due to unequal increases in QTmax and QTmi

Molecular testing and genomic screening for phenylketonuria

2024-09-24T04:23:42-06:00

The article discusses the importance of molecular testing and genomic screening. The results of studies that identified the phenylalanine hydroxylase gene in patients with phenylketonuria found during neonatal screening in various ethnic groups are presented. It is noted that the gene phenylalanine hydroxylase is the main factor determining the phenotype of phenylketonuria. Identification of the spectrum of phenylalanine hydroxylase gene variants is important for early diagnosis, understanding of molecular mechanisms, clinical follow-up, treatment, and genetic counseling.

Surgical treatment of necrotizing enterocolitis in neonates

2024-09-24T05:19:59-06:00

The surgical treatment of NEC in newborns is a complex and evolving field. While laparotomy remains the standard approach, emerging technologies and treatment modalities offer the potential for improved outcomes. Further research is needed to refine surgical strategies, enhance postoperative care, and mitigate the long-term consequences of NEC and its surgical management. A multidisciplinary approach involving neonatologists, pediatric surgeons, and other specialists is crucial for optimizing the care of infants affected by this challenging condition.

Features of protein and amino acid metabolism in newborns with sepsis

2024-09-24T04:01:29-06:00

Sepsis in newborns is characterized by high mortality and is one of the main causes of disability in small children. One of the most significant factors influencing the outcome of treatment of sepsis in newborns is protein-energy malnutrition clinically associated with a systemic inflammatory response and multiple organ dysfunction (MOD). At present, the effect of systemic inflammation on protein-energy homeostasis has not been fully studied; the criteria for metabolic decompensation in neonatal sepsis and their relationship with vital laboratory parameters used in clinical practice have not been sufficiently developed. Determination of safe threshold values for clinical and laboratory parameters, protein and amino acid content in the blood in septic newborns with organ dysfunction is urgent for differential diagnosis and evaluation of treatment effectiveness. The presented literature review is devoted to the effect of protein-energy malnutrition on the incidence of adverse outcomes in newborns with sepsis and septic shock.