Endosurgical treatment of newborns and young children with posterior urethral valves

Objective: Posterior urethral valves are a rare but the most common cause of lower urinary tract obstruction in male newborns and infants. Patients are at high risk of recurrent urinary tract infections, acute kidney injury and chronic kidney disease. The aim of this study was to present our experience of transurethral incision of posterior urethral valves in newborns as a gold standard of treatment. Materials and methods: We conducted a case-series of patients with posterior urethral valves who underwent transurethral incision during 2017–2021. We analyzed clinical characteristics of patients, recurrence, and complications during a follow-up of 3-12 months. Results: Of 26 patients who underwent transurethral incision of posterior urethra valves 14 had concomitant vesicoureteral reflux of II-V degrees and 12 – obstructive megaureter. Eight children received endoscopic injections (7 ureters) and ureteral stenting (5 ureters). Six infants (9 ureters) had Cohen's operation of which 4 patients had ureteric reimplantation using laparoscopic pneumovesicum and 2 patients underwent open procedure. In 4 cases we performed laparoscopic nephroureterectomy. In 12 children a spontaneous regression of VUR and megaureter within 3 months after TUI were observed. Four children developed chronic kidney disease of 1-2 stages. Conclusions: Early diagnosis and surgery treatment of posterior urethra valves in newborns and infants provide excellent outcomes in most patients. Cystourethroscopy with the transurethral incision is highly recommended to be performed in the neonatal period as the spontaneous recovery of concomitant vesicoureteral reflux and megaureter are quite often

Цитомегаловирусная инфекция у детей первых месяцев жизни: варианты течения, современные подходы к терапии (клинические случаи)

Cytomegalovirus infection (CMVI) in newborns and infants can occur in various clinical forms requiring a differentiated therapy. We present the peculiarities of two different variants of CMVI course generalized with a manifest clinical picture and characteristic shifts in laboratory analyzes in a child aged 2.5 months with a combined genetic pathology, and latent intrauterine in a child aged 5 days leading to the development of neurosensory hearing loss. The difficulties in diagnosing a suppressed (latent) form of the disease and choosing a therapeutic approach have been highlighted. A successful result of etiopathogenetic therapy with ganciclovir in a child with postnatal generalized CMVI has been presented. The therapeutic efficacy and safety of off-label ganciclovir preparations and anti-cytomegalovirus immunoglobulin have been confirmed. The advisability of including ganciclovir in the management protocol of children with latent forms of CMVI is discussed.Цитомегаловирусная инфекция (ЦМВИ) у новорожденных и детей первых месяцев жизни может протекать в различных клинических формах, требующих дифференцированной терапии. Представлены особенности двух различных вариантов течения ЦМВИ — генерализованной с манифестной клинической картиной и характерными сдвигами в лабораторных анализах у ребенка в возрасте 2,5 мес с сочетанной генетической патологией и латентной внутри- утробной у ребенка в возрасте 5 дней, приведшей к развитию нейросенсорной тугоухости. Освещены трудности диагностики стертой (латентной) формы болезни и выбора тактики лечения пациента. Представлен успешный результат этиопатогенетической терапии препаратом ганцикловира у ребенка с постнатальной генерализованной ЦМВИ. Подтверждены терапевтическая эффективность и безопасность off-label препаратов ганцикловира и противоцитомегаловирусного иммуноглобулина. Обсуждается целесообразность включения ганцикловира в протокол ведения детей с латентными формами ЦМВИ.ИСТОЧНИК ФИНАНСИРОВАНИЯ Не указан.КОНФЛИКТ ИНТЕРЕСОВ Авторы заявили об отсутствии конфликта интересов, который необходимо обнародовать

Cytomegalovirus Infection in Infants: Course Variants, Modern Approaches to Therapy (Clinical Cases)

Cytomegalovirus infection (CMVI) in newborns and infants can occur in various clinical forms requiring a differentiated therapy. We present the peculiarities of two different variants of CMVI course generalized with a manifest clinical picture and characteristic shifts in laboratory analyzes in a child aged 2.5 months with a combined genetic pathology, and latent intrauterine in a child aged 5 days leading to the development of neurosensory hearing loss. The difficulties in diagnosing a suppressed (latent) form of the disease and choosing a therapeutic approach have been highlighted. A successful result of etiopathogenetic therapy with ganciclovir in a child with postnatal generalized CMVI has been presented. The therapeutic efficacy and safety of off-label ganciclovir preparations and anti-cytomegalovirus immunoglobulin have been confirmed. The advisability of including ganciclovir in the management protocol of children with latent forms of CMVI is discussed

EBS in Children with De Novo Pathogenic Variants Disturbing <i>Krt14</i>

Epidermolysis bullosa simplex (EBS) is a dermatological condition marked by skin fragility and blister formation resulting from separation within the basal layer of the epidermis, which can be attributed to various genetic etiologies. This study presents three pathogenic de novo variants in young children, with clinical manifestations appearing as early as the neonatal period. The variants contribute to the EBS phenotype through two distinct mechanisms: direct keratin abnormalities due to pathogenic variants in the Krt14 gene, and indirect effects via pathogenic mutation in the KLHL24 gene, which interfere with the natural proteasome-mediated degradation pathway of KRT14. We report one severe case of EBS with mottled pigmentation arising from the Met119Thr pathogenic variant in KRT14, another case involving a pathogenic KLHL24 Met1Val variant, and a third case featuring the hot spot mutation Arg125His in KRT14, all manifesting within the first few weeks of life. This research underscores the complexity of genetic influences in EBS and highlights the importance of early genetic screening for accurate diagnosis and management

Somatostatin analog (octreotide) and sirolimus immunosuppressive therapy in the treatment of chyloperitoneum and chylothorax in newborns and infants

Background: Chyloperitoneum (CP) and chylothorax (CT) are rare conditions that have a high mortality rate and unclear treatment options. Their incidence in neonates ranges from 1 in 20000 to 1 in 187000 live births. This study aims to evaluate the effectiveness of synthetic somatostatin analog (octreotide) and sirolimus therapy in treating chylous pleural and peritoneal collections in newborns and infants. Methods: We conducted a retrospective analysis of 10 children with either chylothorax or chyloperitoneum, treated in our department between 2018 and 2023. The study was approved by the Local Independent Ethics Committee of The National Medical Research Center of Children's Health, under Protocol №7, dated 11 May 2023. The parents voluntarily signed an informed consent form for the off-label use of the drug. We reviewed the medical records for demographic information, clinical presentation, management, and outcome. Results: Our study looked at patients aged between 0 and 5.5 months, with seven cases of chyloperitoneum and three cases of chylothorax. We initially used octreotide, which was then switched to sirolimus if there was no improvement. Octreotide was effective in five children after 10-18 days of treatment, while the effect of sirolimus was observed 8-14 days after starting treatment. One patient, who had a history of a giant omphalocele with primary closure, experienced complications after 8 weeks of sirolimus therapy, including bilateral knee arthritis, leukopenia, and lymphopenia. Fortunately, there were no fatal outcomes. Conclusion: Sirolimus therapy is effective in treating newborns with chylothorax or chyloperitoneum, with a low risk of complications even in those cases not responding to octreotide therapy. It is recommended that octreotide therapy should not exceed 10 days, after which sirolimus can be prescribed