ISSN Print 2500–1094    ISSN Online 2542–1204
Bulletin of RSMU
BIOMEDICAL JOURNAL OF PIROGOV UNIVERSITY (MOSCOW, RUSSIA)
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Clinical case Two-step AAV8 gene delivery in a child with Crigler-Najjar syndrome type I
Rebrikov DV, Degtyareva AV, Yanushevich YuG, Gautier MS, Gorodnicheva TV, Bavykin AS, Ushakova LV, Filippova EA, Degtyarev DN, Sukhikh GT
Crigler–Najjar syndrome type I, an orphan UTG1A1 enzyme deficiency, manifests at birth with severe unconjugated hyperbilirubinemia. Here we describe sustained clinical response in a pediatric patient with Crigler–Najjar syndrome type I treated with two consecutive doses of AAV8 delivering the UTG1A1 coding sequence. Infusion I (6 × 1012 vg/kg) afforded sustained decrease in serum bilirubin, allowing substantial relaxation of the phototherapy from 12 h to 4 h daily. Infusion II at a double dose was made in 6 months; the decision was intended at complete elimination of phototherapy. However, the elimination led to a sharp increase in bilirubin levels necessitating resumption of phototherapy. The patient is currently stable on 4 h daily phototherapy for 80 weeks since the resumption and 107 weeks since the AAV8 therapy initiation. No toxic side effects were encountered. A slow incremental dynamics in serum bilirubin opens the issue of clinical advisability for subsequent infusions of the drug.
Received: 2025-04-25
Published online: 2025-04-30
DOI: 10.24075/brsmu.2025.025
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Original research Morphological subchondral bone tissue characteristics in knee osteoarthritis
Minasov BSh, Yakupov RR, Akbashev VN, Shchekin VS, Vlasova AO, Minasov TB, Karimov KK, Akhmeldinova AA
Morphological subchondral bone tissue alterations associated with knee osteoarthritis represent a key pathogenesis link and can precede articular cartilage destruction. The study aimed to identify typical morphological and morphometric signs of osteosclerosis and osteoporosis in the subchondral zone of the femur and tibia. Analysis of 40 bone tissue fragments collected when performing knee replacement surgery in 20 patients (12 females and 8 males) aged 58–75 years with stage III–IV osteoarthritis was performed. Histological and morphometric assessment involving the use of light microscopy and microfracture index (MFI) calculation revealed significant differences in trabecular thickness, intertrabecular distance, and the degree of microdamage between the sites of sclerosis and osteoporosis. High MFI values in the zones of osteoporosis can reflect reduced subchondral bone strength. The findings confirm the diagnostic value of the subchondral zone morphometry and the prospects of using MFI as a quantitative risk criterion when planning orthopedic treatment.
Received: 2025-04-06
Published online: 2025-04-30
DOI: 10.24075/brsmu.2025.024
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VIEWS 137
Original research Comparison of extracorporeal photopheresis and glatiramer acetate efficacy in the treatment of multiple sclerosis
Kildyushevsky AV, Kotov SV, Sidorova OP, Borodin AV, Bunak MS
Multiple sclerosis is an autoimmune disorder, the development of which involves humoral and cellular immunity. The disease-modifying drugs (DMDs) for multiple sclerosis slow down the disease progression, but the therapy prescribed is not always well tolerated by patients; allergy and other side effects are possible. In this regard, the development of new methods, including non-pharmacological ones, is relevant. These methods include extracorporeal photopheresis involving UV exposure of peripheral blood lymphocytes and its modification — transimmunization (involving incubation of lymphocytes after UV exposure). The study aimed to compare and within a year assess the transimmunization and glatiramer acetate efficacy in patients with relapsing-remitting multiple sclerosis. A total of 19 adult patients with relapsing-remitting multiple sclerosis, who had been prescribed transimmunization, were assessed. Patients over the age of 18, who did not receive treatment by other methods (DMDs for multiple sclerosis, etc.), were included in the study. The comparison group consisted of 48 adult patients with relapsing-remitting multiple sclerosis, who were prescribed subcutaneous glatiramer acetate 20 mg daily. Clinical assessment was performed using EDSS. Brain and spinal cord MRI was performed in the 3.0 and 1.5 T scanners. When performing transimmunization, the decrease in the median overall EDSS score from 2 to 1.5 points was reported. In the comparison group of patients receiving glatiramer acetate, the median EDSS score changed from 1.75 to 2 points. Therefore, transimmunization is comparable with first-line DMDs for multiple sclerosis and can be used to stabilize the disease course.
Received: 2025-04-02
Published online: 2025-04-29
DOI: 10.24075/brsmu.2025.023
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Opinion Therapeutic strategies for Wilson’s disease: current state and prospects
Ivanenko AV, Starodubova VD, Shokhina AG
Wilson’s disease is a rare hereditary disorder caused by the ATP7B gene mutations that leads to copper metabolism disturbances and toxic copper accumulation in the liver, brain, and other organs. The main manifestations include liver damage, neurological and psychiatric symptoms. The use of advanced treatment methods (D-penicillamine, trientine, zinc salts) improves the outcome, but is limited by side effects and complexity of adherence to therapy. Liver transplantation is used in severe forms, but it is limited by the donor shortage and the need for immunosuppression. In our opinion, promising areas include gene therapy involving the use of AAV vectors and CRISPR/Cas9, mRNA platforms, and cell technologies. However, these approaches require further research for the efficacy, safety, and accessibility improvement.
Received: 2025-04-02
Published online: 2025-04-28
DOI: 10.24075/brsmu.2025.022
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Original research Impact of tumor on the cell cycle and differentiation of hematopoietic stem cells
Aktanova AA, Bykova MV, Skachkov IP, Denisova VV, Pashkina EA
Today, there is a theory that proliferative potential of hematopoietic stem cells is depleted, and the balance of committed precursor cells shifts towards suppressors during the development of cancer. However, differentiation of hematopoietic stem cells can vary depending on the tumor type, localization, and microenvironment specifics. The study aimed to assess the impact of tumors of various origins on the CD34+ hematopoietic stem cells (n = 10). Assessment of the cell cycle and cell differentiation via both direct contact with the tumor and exchanging humoral factors only in transwells was conducted by flow cytometry. In the co-culture with К562, the number of hematopoietic stem cells being in their synthesis phase was 2.1%, while in the control it was 11.2% (p = 0.01); in the co-culture with SK-mel37, the number of hematopoietic stem cells being in the G2‒M cell cycle phase was reduced to 0.3% (p < 0.05). 1301 and К562 directed the hematopoietic stem cell differentiation towards granulocyte-macrophage precursor cells (p < 0.05), while 1301 and SK-mel37 directed it towards common multipotent progenitor cells. It is interesting that the number of pluripotent hematopoietic stem cells significantly increased (2-fold) compared to control after incubation with К562 in transwells (24.17% and 10.19%, respectively). Thus, properties of hematopoietic stem cells can vary depending on both tumor type and the way of interacting with these cells.
Received: 2024-12-02
Published online: 2024-12-27
DOI: 10.24075/brsmu.2024.065
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Original research Comparative analysis of methods for calculation of toric intraocular lenses in patients after penetrating keratoplasty
Sinitsyn MV, Voskresenskaya AA, Pozdeyeva NA
Calculation of toric intraocular lenses (tIOLs) in patients after penetrating keratoplasty (PK) is challenging. The study aimed to perform comparative retrospective analysis of various methods for calculation of tIOL during phacoemulsification in patients after PK. We analyzed case reports of 36 eyes (36 patients) after PK, which underwent phacoemulsification with tIOL implantation. All tIOLs were recalculated using four different methods. In group 1, tIOL calculation was performed using keratometry data of the anterior surface of the corneal graft measured using a corneal topographer, and the posterior surface of the corneal graft measured using optical coherence tomography of the cornea or the Scheimpflug keratotopographer. In group 2, keratometry of both corneal graft surfaces was measured using the Scheimpflug keratotopographer, in group 3 — using OCT of the cornea, in group 4 — using the keratotopographer. The online Barrett True — K Toric Calculator was used to calculate tIOLs in groups 1–3, and The Kane Formula was used in group  4. There were significant differences in the values of the spherical and cylindrical components of refraction between the studied groups (p < 0.05). The highest predictability of tIOL calculation was reported for group 1: the ensured postoperative refraction for the spherical component was within ±0.5 D in 58% of eyes, within ±1.0 D in 67% of eyes; postoperative refraction for the cylindrical component was within –0.5 D in 56% of eyes, within ‒1.0 D in 89% of eyes. Thus, the highest predictability of tIOL calculation is observed in patients of group 1.
Received: 2024-11-11
Published online: 2024-12-22
DOI: 10.24075/brsmu.2024.063
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VIEWS 733
Special Project Author's Work
Dear researcher!
At the end of 2015, Bulletin of RSMU saw an important change in its typographic design and content. We formulated new editorial policies and established strict ethical standards for submitted manuscripts in accordance with the guidelines of reputable international bodies. As a result, about a quarter of the submitted works have been rejected, the primary reason being the author trying to submit a previously published article. Sometimes authors believe that by making slight changes to the introduction, excluding a few people from the study, performing a new statistical analysis, and thus obtaining totally new results they will turn their old manuscript into a novel work. That is why we would like to talk about scientific integrity, honesty, plagiarism, and self-plagiarism in our special project “Author’s work”.
Richard FEYNMAN Cargo cult science
American physicist Richard P. Feynman, a Nobel laureate, was always very scrupulous about the quality of a research study. During his commencement address at the California Institute of Technology in 1974, he talked about scientific integrity and honesty and warned young researchers “not to fool” themselves. A must-read for anyone who believes he/she is a true scientist.
Ivan PAVLOV On the Russian mind
In 1918, Russian physiologist Ivan Pavlov, a Nobel laureate, delivered two lectures: on the mind in general and the Russian mind in particular; on those mind qualities that determine the success of a research work and on how these qualities are present in the Russian mind. Pavlov's thoughts are an effective vaccine against poor intellectual work.
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