Case report of successful treatment of clostridial colitis in a child using enteral oxygen therapy.

Clostridioides difficile infection (CDI) has become a serious medical and epidemiological problem with a marked increase in incidence and severity [1]. CDI is responsible for 15-25% of all anti-biotic-associated diarrhea cases, with a considerable increase in the 21st century [2]. Recommended first-line therapy for CDI involves oral vancomycin [1]. Oxygen therapy might be a variant of etiological therapy for anaerobic infection, including CDI [3]. Here we present a case of successful treatment of clostridial colitis in a child by enteral oxygen administration (state scientific project "Investigation of gastrointestinal tract nondigestive functions and the role of enteral oxygenation"). Ethical approval for the clinical usage of enteral oxygen administration was provided by the local ethical committee. Informed consent of the patient's mother was obtained for enteral oxygen therapy. A child was delivered by Caesarean section at 32 weeks of gestation. The mother was infected with herpes simplex virus and cytomegalovirus infections. Moreover, the pregnancy was exacerbated by chronic placental insufficiency, fetal delay syndrome, and moderate intranatal asphyxia. The child's condition was critical from birth because of prematurity and respiratory failure, and he received non-invasive respiratory support (nasal positive airway pressure).

3D-printing in preoperative planning in neonates with complex congenital heart defects.

The application of the 3D printing approach in medicine is currently becoming increasingly popular. The management of fetuses and newborns with congenital heart defects is often difficult, primarily due to the complexity of the anatomy. Here we report a newborn with a complex congenital malformation (absent pulmonary valve syndrome associated with tetralogy of Fallot), which could be clinically interpreted in different ways. 3D printing allowed to elucidate the exact anatomy more precisely and direct the cardiosurgeon to a definitive treatment.

Modified technique for coarctation of aorta with hypoplastic distal aortic arch.

BACKGROUND: A combination of coarctation of aorta with various severity of distal arch hypoplasia frequently occurs in newborns. Traditional techniques in the neonatal period such as extended end-to-end anastomosis or inner curve patch are controversial. Arch geometry has a marked role in long-term outcomes. We introduce a modified Amato technique of distal aortic arch enlargement with native tissue-to-tissue reconstruction. METHODS: Neonatal patients with coarctation of aorta and distal aortic arch hypoplasia who underwent surgical reconstruction using this technique between January 2016 and December 2019 in our center were included. Patients with concomitant complex heart defects were excluded. Data were obtained from echo protocols, CT scans before and after repair. The dimensions of the arch were assessed using Z-score, arch geometry was evaluated with height/width ratio. RESULTS: Thirty-two patients (22 males, 10 females) were included. Median age and weight were 7 days (5; 18) and 3.5 kg (3.1; 4.0), respectively. The Z-score of distal part of the arch before and after procedure was significantly different (<0.01). No mortality, recoarctation, or bronchial compression was found during 18 (6-38) months of follow-up. CONCLUSION: Modified technique for coarctation of aorta with hypoplastic distal aortic arch provides favorable geometry of the aorta with a low risk of morbidity. The proper selection and accurate technique could minimize potential risks. This method is relatively safe and might improve long-term outcomes associated with the geometry of aorta.

Ovarian tissue cryopreservation in prepubertal patients with oncological diseases: multidisciplinary approach and outcomes.

In children with cancer, the issues related to the quality of life are becoming increasingly important together with the improvement of survival rates. This creates an entirely new challenge - minimizing the toxicity of the antitumor therapy without reducing its effectiveness. One of the specific side effects of the antitumor therapy is gonadotoxicity, which negatively affects both the somatic and mental state of the survivors. Since ovarian stimulation is ineffective in prepubertal patients, ovarian tissue cryopreservation (OTC) remains the most promising option to preserve fertility. The primary goal of this publication is to emphasize the importance of the reproductive health problem in girls with oncological diseases, with a description of the current data of international literature on the prospects of OTC in order to preserve fertility. Another goal is to present a multidisciplinary strategy for the management of prepubertal age patients with the oncological disease within the framework of the Oncological Fertility Project at Almazov National Medical Research Center. Based on the data of Russian and international literature, as well as existing guidelines and recommendations on reproductive health, a single algorithm for selecting patients has been developed, considering the expected gonadal toxicity for the use of the OTC in prepubertal girls. The developed algorithm allows identifying patients of prepubertal age, requiring the use of new possibilities of reproductive technologies. In a long-term date, we are planning to evaluate the effectiveness of the orthotopic reimplantation technique of the cryopreserved ovarian tissue in restoring the reproductive function. A multidisciplinary team of specialists and the possibilities of the Federal Center facilitate implementing the Oncofertility Program in routine practice for girls and young women, receiving gonadotoxic treatment.

Genetic Spectrum of Left Ventricular Non-Compaction in Paediatric Patients.

INTRODUCTION: Left ventricular non-compaction (LVNC) represents a genetically heterogeneous cardiomyopathy which occurs in both children and adults. Its genetic spectrum overlaps with other types of cardiomyopathy. However, LVNC phenotypes in different age groups can have distinct genetic aetiologies. The aim of the study was to decipher the genetic spectrum of LVNC presented in childhood. Patient Group and Methods: Twenty patients under the age of 18 years diagnosed with LVNC were enrolled in the study. Target sequencing and whole-exome sequencing were performed using a panel of 108 cardiomyopathy-associated genes. Pathogenic, likely pathogenic, and variants of unknown significance found in genes highly expressed in cardiomyocytes were considered as variants of interest for further analysis. RESULTS: The median age at presentation was 8.0 (0.1-17) years, with 6 patients presenting before 1 year of age. Twelve (60%) patients demonstrated reduced ejection fraction. Right ventricular (RV) dilation was registered in 6 (30%), often in combination with reduced RV contractility (25%). Almost half (45%) of the patients demonstrated biventricular involvement already at disease presentation. For pathogenic and likely pathogenic variants, the positive genotyping rate was 45%, and these variants were found mainly in non-contractile structural sarcomeric genes (ACTN2, MYPN, and TTN) or in metabolic and signal transduction genes (BRAF and TAZ). Likely pathogenic TAZ variants were detected in all 5 patients suspected of having Barth syndrome. No pathogenic or likely pathogenic variants were found in genes encoding for sarcomeric contractile proteins, but variants of unknown significance were detected in 3 out of 20 patients (MYH6, MYH7, and MYLK2). In 4 patients, variants of unknown significance in ion-channel genes were detected. CONCLUSION: We detected a low burden of contractile sarcomeric variants in LVNC patients presenting below the age of 18 years, with the major number of variants residing in non-contractile structural sarcomeric genes. The identification of the variants in ion-channel and related genes not previously associated with LVNC in paediatric patients requires further examination of their functional role.

Metabolomic Biomarkers in Gynecology: A Treasure Path or a False Path?

Omic-technologies (genomics, transcriptomics, proteomics and metabolomics) have become more important in current medical science. Among them, it is metabolomics that most accurately reflects the minor changes in body functioning, as it focuses on metabolome - the group of the metabolism products, both intermediate and end. Therefore, metabolomics is actively engaged in fundamental and clinical studies and search for potential biomarkers. The biomarker could be used in diagnostics, management and stratification of the patients, as well as in prognosing the outcomes. The good example is gynecology, since many gynecological diseases lack effective biomarkers. In the current review, we aimed to summarize the results of the studies, devoted to the search of potential metabolomic biomarkers for the most common gynecological diseases.