Background. Sex cord tumor with annular tubules is a rare ovarian pathology. Its incidence is only 6% of all primary ovarian neoplasms. The clinical signs of this disease are diverse and often individual. The major treatment option is surgery. 
Case description. Patient M., 12 years old, was admitted to the hospital with complaints on recurrent genital bleeding. Historical information: patient had suspected dermoid cyst of the right ovary according to ultrasound. The patient was readmitted to the hematology and chemotherapy department due to posthemorrhagic iron deficiency anemia. Next ultrasound has revealed solid mass in the structure of right ovary, 67 × 42 × 54 mm, with active blood flow. Preliminary diagnosis of “D39.1 Neoplasm of uncertain or unknown behavior: Ovary” was made upon admission to the hospital. The mass up to 7 cm in size, low-elastic consistency, painless at palpation has been revealed to the right of the uterus via bimanual examination. Thus, the preliminary diagnosis was confirmed. The tumor of the right ovary was sent for histological examination after its surgical removal. The pathologist concluded that the morphological picture corresponds to sex cord tumor with annular tubules. Oncologist has made the final diagnosis according to pathoanatomical examination: “C56 Malignant neoplasm of ovary”. The patient was suggested to perform additional examination and recommendations were given at discharge to clarify the disease stage and determine the indications for antineoplastic therapy. 
Conclusion. Regular admissions to gynecologist are crucial for teenage girls since many diseases can have subtle or no clinical signs.

Aberrant internal carotid artery is rare congenital anomaly when this vessel is located lateral to its typical location. It can take significant part of tympanic cavity and in some cases adjoin to eardrum medial surface. One of the most common theories on its etiology is the development of bypassing vessels due to agenesia of the first embryonic segment of internal carotid artery. Its prevalence in population is 1%. The aberrant internal carotid artery has been revealed after massive bleeding during myringotomy or as an incidental finding during computed tomography, based on foreign literature. This article presents rare clinical case of aberrant carotid artery and comorbid secretory otitis media. Case study of 4 years old child with asymptomatic course of internal carotid artery anomaly. Its underdiagnosis at preoperative stage could lead to fatal massive bleeding. Alternative method of secretory otitis media management with high risks of tympanostomy is presented. It included prolonged tympanic cavity drainage via silicone microcatheter installed in pharyngeal opening of the Eustachian tube. This combination of aberrant carotid artery and secretory otitis media requires of doctor to be more alerted careful at any manipulations (even the most routine). Temporal bones computed tomography should be included in the mandatory range of examinations for all patients diagnosed with secretory otitis media who are planning surgery in tympanic cavity.

Neonatal screening (NS) is significant method for early detection of hereditary diseases that reduces the risk of severe complications and improves patients’ quality of life. Enhanced neonatal screening covering 36 diseases has been implemented in Russian Federation since 2023. It includes hereditary metabolic diseases, spinal muscular atrophy, and primary immunodeficiencies. This study presents comparative analysis of NS programs in Russian Federation and in countries of the Eurasian Economic Union and 11 member countries of the Organization for Economic Cooperation and Development. Key trends in the diagnosis of included hereditary diseases in world practice, as well as directions for further programs improvement are identified.

Children with generalized form of meningococcal infection (GFMI) have a high risk of developing life-threatening conditions and fatal outcomes within 24 hours of the onset of the first symptoms, even with timely treatment. Children under the age of 5 contribute significantly to the mortality rate of GFMI, which is six times higher than the national mortality rate. Data from 2010 to 2022 show that 73% of all cases of GFMI in infants under 9 months of age occur before the age of 9 months. This highlights the need to shift the start of meningococcal vaccination to an earlier age, starting from 6 weeks of life. In the Russian Federation, the MenQuadfi vaccine (MenACWY-TT, Sanofi) is registered, which contains antigens of the most common meningococcal strains A, C, W, and Y. Modern molecular technologies were used in the development of the vaccine, which allowed for increased immunogenicity while maintaining a favorable safety profile, including when used in combination with vaccines against 15 infections, resulting in a rapid and pronounced response on days 6–7 after vaccination and revaccination, as well as an extended duration of immune protection of up to 7–10 years, with expanded age-related applicability for children from 6 weeks of age, adolescents, adults, and the elderly. The results of 23 international studies (including Russian studies) confirm that the new MenACWY-TT vaccine fully meets the criteria for selecting vaccines for routine immunization against meningococcal infection and can provide long-lasting effective protection against GFMI from an early age.

Impaired hearing in children such as hearing loss and deafness is crucial medical and social topic. Auditory function deterioration in a child can lead to mental and speech development delays. Preventive measures and timely diagnosis of defective hearing are extremely important to avoid any difficulties with social adaptation. This article covers key methods for diagnosis deafness and hearing loss in children, considers treatment of children with acute and chronic sensorineural hearing loss, and discusses issues of deafness surgical treatment via cochlear implantation in children. Cochlear implantation proved to be the most effective method for rehabilitation and social adaptation of children with significant hearing loss or deafness. Children with grade IV hearing loss and deafness can fully develop and integrate into society after successful cochlear implantation surgery and high-quality postoperative rehabilitation. This article contains basic data that pediatricians and otorhinolaryngologists should know when working with children with severe sensorineural hearing loss. Cochlear implantation is the advanced and effective technique helping children suffering from grade IV sensorineural hearing loss and deafness.

The clinical guidelines for asthma provide a systematic approach to the diagnosis and treatment of this chronic inflammatory disease of the respiratory tract. The article provides a detailed description of current diagnostic methods, including history taking, physical examination, pulmonary function tests, and inflammation measurements. The focus is on individualizing therapy based on the severity and control of the disease, as well as the presence of comorbidities. The authors emphasize the importance of using inhaled corticosteroids as the foundation for long-term control and the use of fast-acting bronchodilators for symptomatic relief. The guidelines also cover non-pharmacological measures, such as avoiding allergens, lifestyle changes, and teaching patients how to properly use inhalers and monitor their symptoms. An important aspect of the guidelines is the “supportive therapy” strategy and the plan of action for exacerbations, which helps to respond promptly and reduce the risk of severe conditions. The guidelines emphasize the need for regular monitoring of treatment effectiveness and the adjustment of therapy based on the progression of the disease. The goal of these clinical guidelines is to improve the quality of care for patients with asthma, reduce the frequency of exacerbations, and enhance their quality of life through the implementation of evidencebased diagnostic and treatment methods.

The authors present current data on the etiology, pathogenesis, clinical manifestations of celiac disease in children of different ages, associated diseases, laboratory and instrumental diagnostics, diet therapy, additional treatment methods, vaccination, and follow-up of children with celiac disease based on the developed clinical guidelines “Celiac Disease. Children”.

Background. The presented case report demonstrates a rarely described in the literature combination of a sporadic mutation of the TP63 gene with a previously unreported genetic mutation of HG3B, which led to a combined immunodeficiency with multiple congenital malformations. The uniqueness of the case is determined by an atypical combination of genetic disorders and their clinical manifestations. 
Case Report. A 5-month-old male patient with widespread erythematous-squamous skin lesions on the scalp, face, and extremities, as well as multiple congenital malformations, including cleft palate, hypospadias, and renal abnormalities. The patient was diagnosed with combined immunodeficiency with a T-cell defect, which manifested as recurrent infections. Based on a comprehensive examination, a diagnosis of combined immunodeficiency with a T-cell defect associated with a TP63 gene mutation and an HG3B mutation was made. A comprehensive therapy was carried out, including replacement therapy with immunoglobulins, antibacterial treatment, and the placement of a gastrostomy. As a result of the treatment, the patient’s condition was relatively stabilized. 
Conclusion. The described case report expands the understanding of the spectrum of clinical manifestations in TP63 gene mutations and demonstrates the need for further study of the role of new genetic mutations in the pathogenesis of immunodeficiency conditions. This case report highlights the importance of a multidisciplinary approach in the diagnosis and treatment of rare genetic diseases.