Introduction. Spinal muscular atrophy (SMA) 5q is a severe hereditary neuromuscular disorder, one of the serious manifestations of which is the development of progressive respiratory insufficiency. The administration of pathogenetic therapy leads to decreased symptoms of respiratory failure, which reduces the risk of lethal outcome and is fundamental for stabilizing the progression of physical development and new motor skills in SMA patients.

The aim — to present experience of onasmenogen abeparvovec (OA) gene replacement therapy (GRT) in patients with SMA type 1 and severe respiratory failure combined with chronic bronchopulmonary infection caused by nosocomial multidrug-resistant microflora in real clinical practice.

Materials and methods. Five patients with SMA type 1 and respiratory failure of second degree complicated by chronic bronchopulmonary infection were enrolled in this study. All patients were performed a comprehensive clinical, laboratory, and radiologic examination before and for two years after GRT OA administration toof evaluate the severity of respiratory disturbances. The efficiency of OA therapy was estimated with the Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND), and motor development was assessed by the Hammersmith Infant Neurologic Examination Part 2 (HINE-2).

Results. The medical records of 5 (four boys and one girl ) patients with SMA type 1 at the mean age of 19 months (13 to 27 months) at the time of GRT OA administration were analyzed, of them. All patients had been treated with a different type of pathogenetic therapy before GRT OA. After the preventive, personalized antibacterial therapy, all patients experienced GRT OA administration without exacerbation of chronic bronchopulmonary infection, despite hormonal therapy in an immunosuppressive dose (1 mg/kg). There were no lethal outcomes during two years after GRT OA. Over the first year, patients demonstrated a progressive increase in motor skills with further stabilization, but during the second year of follow-up, two patients showed moderate regression of motor skills after pneumonia. One of five patients had a positive lung function dynamics and eradication of highly pathogenic bacterial microflora from the respiratory tract.

Conclusions. It is comparatively safe to administer GRT OA in children with SMA type 1 and chronic respiratory infection. However, changing pathogenetic therapy to GRT OA in the cases we presented did not have clinically significant advantages and required more careful patient preparation. Additional risks associated with the occurrence of immune-mediated adverse events due to concomitant hormonal therapy, which can be avoided on other types of pathogenetic therapy, should be considered.

Compliance with ethical standards. The study was approved by the local Ethics Committee of the Pirogov Russian National Research Medical University (Protoсol No. 226 of 20.02.2023). The patients’ legal representatives signed informed consent on the use of onasemnogene abeparvovec, all were informed about possible side effects of the drug and risks of using hormonal therapy against the background of chronic bronchopulmonary infection.

Contribution:
Papina Yu.O. — research design, patient supervision, study coordination, collection of materials and data processing, text writing, review of publications on the topic of the article;
Artemyeva S.B. — study coordination, analysis of the obtained data, article editing;
Belousova E.D. — study coordination;
Volynets G.V. — patient supervision, article editing;
Dyakova S.E. — patient supervision, analysis of the obtained data, article editing;
Rastegina S.E. — article editing;
Komarova O.N. — patient supervision, article editing;
Melnik E.A. — analysis of the obtained data, article editing;
Podgorny A.N. — patient supervision;
Vlodavets D.V. — study coordination, article editing.
All co-authors are responsible for the integrity of all parts of the manuscript and approval of its final version.

Acknowledgements. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: August 5, 2024

Accepted: September 5, 2024

Published: October 30, 2024

Introduction. Nephrocalcinosis (NC) is defined as the deposition of calcium oxalate or calcium phosphate in the intratubular lumen and/or kidney interstitium. Recent studies have reported that NC might be a specific sign of hereditary kidney diseases with various phenotypic manifestations. The rate of genetic mutation as a rule was higher in children with earlier onset and positive family history.

Purpose. To study the causes, characterize the genotype and phenotype in Russian children with NC.

Materials and methods. A single-center retrospective-prospective cohort study included 91 patient under the age of 18 years, 57 (62.6%) boys and 34 (37.4%) girls with bilateral NC. We analyzed the phenotype and kidney function in NC children classified into 3 groups according to etiology: 1) primary tubulopathies; 2) tubulopathies due to metabolic and endocrine disorders; 3) NC, unconfirmed by molecular genetic research.

Results. Pathogenic nucleotide variants were identified in 51 (56%) children with a predominance in the genes CLCN5, CYP24A1, AGXT, HPRT1 described in patients with Dent disease (OMIM 300009), primary hyperoxaluria type 1 (OMIM 259900), idiopathic infantile hypercalcemia type 1 (OMIM 143880), Lesh–Nihan syndrome (OMIM 300322) respectively. The median age of detection of NC was 16 years, 4 [3.9; 52.2 months, among which 42 (46.1%) children were under the age of 1 year, 44 (48.4%) aged 1 to 10 years, 5 (5.5%) older than 10 years. Various bone deformities prevailed among the extrarenal manifestations (19 (20.4%)). Over 3 years of follow-up (n = 51) the average GFR changed from 102.5 ± 26.0 ml/min/1.73 m² to 94.5 ± 21.9 ml/min/1.73 m² (p = 0.002); over 5 years of follow-up (n = 31) from 104.7 ± 23.9 ml/min/1.73 m² to 89.6 ± 25.1 ml/min/1.73 m² (p = 0.002), that was statistically significant in the group of primary tubulopathies (p = 0.030; p = 0.002). At baseline, the average GFR value was lower in NC stages 2 and 3.

Conclusion. Conducting a molecular genetic study in NC children, in addition to early diagnosis of diseases with variable renal prognosis and will also help to achieve effectiveness in the timely prescription of pathogenetic and symptomatic therapy.

Compliance with ethical standards. The study was approved by the local independent ethical committee of the National Medical Research Center for Children’s Health (protocol No. 11 of November 25, 2021).

For correspondence: Rasita A. Nikolaeva, pediatrician, postgraduate student of the National Medical Research Center for Children’s Health, Moscow, 119991, Russian Federation. E-mail: nikolaevarasita@mail.ru

Contribution:
Nikolaeva R.A. — material collection and data processing, statistical data processing, text writing;
Maltseva V.V. — statistical data processing, text editing;
Ananin P.V. — statistical data processing, text editing;
Milovanova A.M. — statistical data processing, text editing;
Vashurina T.V. — consept and design of the review, text editing;
Zrobok O.I. — consept and design of the review, text editing;
Tsygina E.N. — consept and design of the review, text editing;
Zhanin I.S. — conducting molecular genetic diagnostics, analysis and processing of the results;
Pushkov A.A. — conducting molecular genetic diagnostics, analysis and processing of the results;
Savostyanov K.V. — analysis of the results of molecular genetic diagnostics, text editing;
Tsygin A.N. — consept and design of the review, text editing.
All co-authors are responsible for theintegrity of all parts of the manuscript and approval of its final version.

Acknowledgements. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: July 15, 2024
Accepted: August 2, 2024
Published: October 30, 2024

Introduction. Neuralgic amyotrophy is an acute painful inflammatory multifocal neuropathy with a predominant lesion of the brachial plexus followed after by muscle weakness and atrophy. The brachial plexus and the long nerves of the arms are mainly affected. NA is rare in pediatric practice and have appeared as isolated case or in small series in the literature.

Objective — to describe the clinical and diagnostic features of neuralgic amyotrophy patients amyotrophy.

Materials and methods. The clinical, electrophysiological and neuroimaging data about 13 patients (11 boys and 2 girls) aged of from 8 to 17 years (average age 13.6 ± 3.1) were retrospectively analyzed.

Results. All patients complained of neuropathic pain in the affected upper limb, with an average intensity of 8.5 ± 1.2 cm according to the visual analogue scale. The duration of the pain syndrome averaged of 7.4 ± 5.8 days. The average duration of the disease from the onset of pain to examination was 5.2 ± 4.3 months. All patients showed changes in the muscles of the affected side according to electromyography data in the form of neurogenic restructuring of motor units.

The peripheral nerve ultrasound reveals no significant differences in the average values of the cross-sectional area of the spinal and median nerves (in 7 patients over the acute phase and atrophy phase and 6 — during the recovery phase) revealed an increase in the cross-section area of the spinal nerves on the affected side in 38% and 15% on the unaffected side compared with the normative values. In 4 cases, one hourglass-like nerve constriction was detected in the axillary and 3 ones — in the radial nerves. Two patients received pathogenetic therapy with steroids. Two patients received surgical treatment. Residual motor deficiency was observed in 62% of patients.

Conclusion. It is a rare condition in children, but raising awareness about it will help avoid delay in diagnosis. In our series of cases, the clinical and diagnostic features were the same as in adults.

Compliance with ethical standards. The study was approved by the local Ethics Committee of the N.I. Pirogov Russian National Research Medical University (Protocol No. 209 of 06/28/2021).

Contribution:
Druzhinina E.S. — review of publications, data collection and analysis, writing the text of the manuscript;
Druzhinin D.S. — data collection and analysis, writing text;
Rogovskaya U.V. — data collection, writing text;
Kurbatov S.A. — data collection, writing text;
Zavadenko N.N. — writing the text of the article, final approval for the publication of the manuscript.
All co-authors are responsible for the integrity of all parts of the manuscript and approval of its final version.

Acknowledgements. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: July 7, 2024
Accepted: August 2, 2024
Published: October 30, 2024

Dysphagia is a common symptom of many diseases. Thus, the incidence of dysphagia in Parkinson’s disease is 11–81%, in patients with traumatic brain injury accounts of27–30%, in community-acquired pneumonia it reaches 91.7%, in Alzheimer’s disease — up to 85.9%, in mental illnesses — 9–42%. According to observational studies, dysphagia is diagnosed in 8.1–90.0% of patients with acute cerebrovascular accident. We found no report on the use of botulinum toxin in the Russian Federation for the treatment of dysphagia due to spasm of the upper esophageal sphincter (UES).

The aim of the work is to describe the first botulinum toxin type A injection experience for spasm of the UES in Russia.

The first experience in treating neurogenic cricopharyngeal dysphagia using intrasphincteric injection of botulinum toxin type A Russia is described.

We injected 100 units of botulinum toxin diluted in 4 ml of 0.9% sodium chloride solution symmetrically into 4 points (25 units, 1 ml at each point) in the spasm zone of the UES. In our case, the first effect from the injection of botulinum toxin appeared after 24 hours, and the maximum effect was recorded after 6 days. In our case, we observe no side effect after the injection of botulinum toxin. The effect of the procedure persists for 30 days after the injection of botulinum toxin type A into the UES under the control of endoscopic ultrasonography.

Conclusion. Dysphagia is a common complication of many neurological diseases, including acute cerebrovascular accident. Aspiration and pneumonia due to swallowing disorder lead to an increase in the duration of hospital treatment, worsen the prognosis of the disease, and the patient’s quality of life. The injection of botulinum toxin type A for the treatment of neurogenic dysphagia due to spasm of the UES under the control of endoscopic ultrasonography is an effective, safe and minimally invasive treatment method, due to which it can be used in the acute period of acute cerebrovascular accident.

Contribution:
Ramazanov G.R. — article concept and design, writing text, editing;
Yartsev P.A. — concept and design of the article;
Kovaleva E.A. — article concept and design, writing text, editing;
Shevchenko E.V. — editing;
Teterin Yu.S. — concept and design of the article;
Makarov A.V. — writing text, editing;
Korigova H.V. — writing text;
Akhmatkhanova L.H-B. — writing text;
Petrikov S.S. — editing.
All co-authors — approval of the final version of the article, responsible for the integrity of all parts of the article.

Acknowledgements. The study had no sponsorship.

Conflict of interest. The authors declare no conflict of interest.

Received: June 18, 2024
Accepted: July 24, 2024
Published: October 30, 2024