A5107619530- Genetic Syndromes and Imprinting
- Prenatal Screening and Diagnostics
- Streptococcal Infections and Treatments
- Diet and metabolism studies
- Viral Infections and Vectors
- RNA modifications and cancer
- Protein Tyrosine Phosphatases
- Neonatal and Maternal Infections
- Neonatal Health and Biochemistry
- Galectins and Cancer Biology
- Electrolyte and hormonal disorders
Pirogov Russian National Research Medical University
2024-2025
Ministry of Health of the Russian Federation
2024
RASopathies represent one of the largest groups genetic disorders. One them is Noonan syndrome, an autosomal dominant disease, which in rare cases can also be inherited recessive manner caused by a disruptions RAS/MAPK signaling pathway. This pathology occurs 1 1000–2500 live births and leads to number disorders: dysmorphic facial features, congenital heart defects, lymphatic malformations, hemostatic disorders, chest abnormalities, cryptorchidism, delayed neuropsychological physical...
Neonatal hypernatremia is a condition in which the concentration of sodium blood newborn child exceeds 145 mmol/l. The causes this pathology may be kidney disease, endocrine problems, transdermal water loss, iatrogenic overload. In addition, dehydration due to insufficient breastfeeding remains one important factors leading hypernatremia. Clinical signs include: significant weight decreased skin turgor, anxiety, fever, seizures, and direct hyperbilirubinemia. main complications are...
Введение. Неиммунная водянка плода – гетерогенное расстройство, характеризующееся генерализованной гипергидратацией, обусловленной внеклеточным накоплением жидкости в тканях и серозных полостях плода, при отсутствии признаков иммунной сенсибилизации. Распространенность неиммунной водянки по разным данным составляет от 0,05% до 0,5%, или примерно 1:4000 живорожденных детей. В основе лежат более 150 различных нозологий. Значительную долю всех причин, приводящих к водянке занимают нарушения его...
Beckwith–Wiedemann syndrome (OMIM 130650, Q87.3) is a congenital anomaly characterized by overgrowth. It has wide range of clinical manifestations, but the three main features include macrosomia, macroglossia, and anterior abdominal wall defect. The prevalence disease 1 in 13,700 newborns worldwide, equally represented males females. Epigenetic genetic changes on chromosome 11p15.5 are etiological factors: loss maternal methylation at IC2 (KCNQ1OT1), paternal uniparental disomy, mutation...