Slow Disease Progression Research Articles

Diagnosing Alexander disease in adults.

Alexander disease is a rare, genetic and ultimately fatal neurological disorder that arises from pathogenic variants in the glial fibrillary acidic protein (GFAP) gene. Its presenting symptoms often differ according to age at onset. Although Alexander disease typically presents in young children with seizures and developmental delays, its presentation in adults may include bulbar signs, ataxia and autonomic dysfunction. Because of the heterogeneous and non-specific symptoms associated with adult-onset Alexander disease, the diagnosis typically requires comprehensive clinical and neuroimaging evaluation as well as confirmatory genetic testing. Here, we present detailed case descriptions of patients who first presented with symptoms of Alexander disease as adults, with guidance on recognising distinctive clinical and radiological characteristics associated with the later-onset form. Timely recognition and referral of patients with Alexander disease will enable earlier interventions that may mitigate disease severity or slow disease progression if such interventions become available.

A Study on the Impact, Potential Benefits and Drawbacks of Popular Dietary Trends?

Dietary trends have garnered considerable attention for their potential role in improving health and managing chronic conditions. This paper delves into the advantages and limitations of popular dietary approaches, emphasizing the renal diet. Designed for individuals with chronic kidney disease (CKD), renal diets prioritize controlled protein consumption, reduced sodium, and balanced potassium and phosphorus levels. These practices offer benefits such as slowed CKD progression, better management of metabolic acidosis, and improved bone mineral health. However, challenges like nutritional deficiencies, limited food options, and adherence difficulties remain significant. The review underscores the value of personalized dietary strategies and the necessity of further research to optimize health outcomes while addressing risks tied to dietary restrictions. A healthy eating pattern can reduce the risk of metabolic and cardiovascular diseases. Yet, dietary guidance for kidney transplant recipients is scarce and typically centers on single nutrients like sodium, potassium, and protein rather than holistic dietary patterns. Since individuals generally consume these nutrients as part of their overall diet, transplant patients may struggle to apply isolated dietary recommendations effectively. Moreover, single-nutrient strategies have shown inconclusive results, raising doubts about their ability to significantly affect transplant outcomes. Dietary trends, including plant-based diets, intermittent fasting, low-carb or keto diets, and juicing, have gained substantial media attention. This paper reviews the risks and benefits of these dietary practices for kidney transplant recipients while proposing updated nutritional guidance that incorporates current dietary trends. Evidence suggests that Mediterranean and DASH diets are particularly advantageous for post-transplant patients due to their emphasis on reducing meat and processed foods while increasing fresh and plant-based options. Renal diets and other popular dietary patterns offer notable health benefits, particularly for individuals with kidney conditions, though they also present challenges. A renal diet, typically low in sodium, phosphorus, potassium, and protein, can help mitigate kidney damage and enhance overall health, including cardiovascular health. However, its restrictive nature may lead to difficulties in meeting nutritional requirements.  Potential Benefits:  Slowing Kidney Damage: Reduces stress on kidneys, slowing disease progression.  Improved Cardiovascular Health: Supports heart health, lowering the risk of heart disease associated with CKD.  Reduced Uremic Toxins: Diets incorporating plant-based proteins may minimize uremic toxin production in impaired kidneys.  Delayed Dialysis: Certain diets, such as plant-based ones, may postpone dialysis needs for some CKD patients.  Enhanced Nutritional Status: Balanced diets paired with oral bicarbonate supplementation can benefit CKD patients' nutritional status.  Potential Drawbacks:  Nutritional Deficiencies: Restrictive diets may lead to deficiencies without careful planning and professional oversight.  Adherence Challenges: Social settings and rigid dietary rules can hinder compliance.  Higher Costs: Recommendations like organic or grass-fed products could increase food expenses.  Increased Kidney Workload: High-protein diets, though beneficial for CKD patients, may strain healthy kidneys.  Metabolic Acidosis: Diets heavy in animal proteins may exacerbate metabolic acidosis in advanced CKD cases.  Processed Food Consumption: Ultra-processed foods, high in sodium, sugar, and unhealthy fats, can worsen CKD-related complications.

Antifibrotic Drug Adherence, the Patient, the Clinical Service and the Delivery Courier

Aims/Background Antifibrotic medication aims to slow disease progression for those with pulmonary fibrosis and is expensive with a known side effect profile. We have reviewed antifibrotic adherence in a real-world patient cohort. Methods We selected a random sample of 30 patients prescribed nintedanib for idiopathic pulmonary fibrosis, conducted telephone interviews collecting demographic data and evaluated adherence using the Medication Adherence Report Scale (MARS-5) and the Adherence Starts with Knowledge (ASK-20) survey. Results 21 (70%) of patients were male and 9 (30%) were female, the median age was 73.8 years. 13 (43%) had no qualifications, 6 (20%) had GCSE/O levels or equivalent, 6 (20%) had AS/A levels or equivalent and 5 (17%) had a higher degree. The median MARS-5 score was 23.5 (range 16–25) suggesting an extremely high level of adherence among this patient group. Conclusion This study offers insights into medication adherence in a patient group that has not been extensively reviewed before. In this single centre study, there is good adherence to antifibrotic medication. This is likely related to the extensive clinical support provided, which is responsive, accessible, and individualised. Participants specifically mentioned this support when questioned.

Retroelement co-option disrupts the cancer transcriptional programme

BackgroundTranscriptional activation of otherwise repressed retrotransposable elements (RTEs) is a hallmark of cancer, shaping tumour progression and immunogenicity by multifaceted, yet incompletely understood, mechanisms.MethodsWe used an extended pan-cancer transcriptome assembly to identify potential effects of RTEs on the genes within which they have integrated or those in proximity. These were subsequently verified in test cases by further analysis of transcriptional profiles in cancer patient data, and by in vitro studies involving restoration of gene activity, and proliferation and migration assays in cancer cell lines.ResultsWe report that cancer-specific transcriptional activation of RTEs causes frequent reduction or loss of gene function. Exonisation and alternative splicing of RTEs creates non-functional RNA and protein isoforms and derepressed RTE promoter activity initiates antisense transcription, both at the expense of the canonical isoforms. Contrary to theoretical expectation, transcriptionally activated RTEs affect genes with established tumour-promoting functions, including the common essential RNGTT and the lung cancer-promoting CHRNA5 genes. Furthermore, the disruptive effect of RTE activation on adjacent tumour-promoting genes is associated with slower disease progression in clinical data, whereas experimental restoration of gene activity enhances tumour cell growth and invasiveness in vitro.ConclusionsThese findings underscore the gene-disruptive potential of seemingly innocuous germline RTE integrations, unleashed only by their transcriptional utilisation in cancer. They further suggest that such metastable RTE integrations are co-opted as sensors of the epigenetic and transcriptional changes occurring during cellular transformation and as executors that disrupt the function of tumour-promoting genes.

A Pituitary Stalk Interruption Syndrome Presenting with Metabolic Dysfunction Associated Steatohepatitis: A Case Report

Background: Pituitary Stalk Interruption Syndrome (PSIS) is a rare congenital disorder characterized by the absence or thinning of the pituitary stalk, hypoplasia of the anterior pituitary, and ectopic posterior pituitary. This results in panhypopituitarism and related clinical manifestations. Emerging evidence suggests an association between PSIS and metabolic dysfunction, potentially progressing to advanced liver disease. Case Report: We present the case of a 31-year-old female with a known diagnosis of panhypopituitarism due to PSIS (diagnosed in 2014), with a history of primary amenorrhea and multiple episodes of adrenal insufficiency. She presented with complaints of fever, vomiting, and yellowish discoloration of the eyes. Clinical examination revealed icterus, right hypochondriac tenderness, hepatomegaly, and Cushingoid features. Laboratory evaluation demonstrated dyslipidaemia, hyperglycaemia, hyperbilirubinemia, and elevated liver enzymes. Imaging revealed hepatomegaly with severe hepatic steatosis. After exclusion of other common aetiologies of hepatitis, a liver biopsy was performed, confirming severe steatosis with fibrosis. In the absence of other identifiable causes, panhypopituitarism is considered a likely contributing factor in the development of hepatic steatosis in this case. Hence, a final diagnosis of metabolic dysfunction-associated steatohepatitis (MASH) secondary to PSIS was made. Conclusion: The pathophysiological link between PSIS and MASH has been recently described. Proposed mechanisms include altered STAT signalling pathways (e.g., STAT1/3 activation, STAT5 inhibition) leading to impaired hepatic lipid metabolism and increased insulin resistance. Evidence suggests that MASLD may progress more rapidly in patients with PSIS compared to other aetiologies. Hormone replacement therapy (HRT) remains the cornerstone of management and may help slow disease progression. Early recognition, routine liver function monitoring, and timely intervention are essential to prevent long-term hepatic complications in patients with PSIS.

EFFICACY OF SGLT-2 INHIBITOR AS ADD ON THERAPY FOR RESISTANT PROTEINURIA IN GLOMERULONEPHRITIS

Background: Chronic glomerulonephritis (CGN) is a leading cause of progressive kidney dysfunction, commonly marked by persistent proteinuria and declining glomerular filtration rate. Proteinuria reduction is essential for slowing disease progression. While renin–angiotensin–aldosterone system (RAAS) blockers and immunosuppressants are standard treatments, many patients with CGN continue to exhibit uncontrolled protein loss. Empagliflozin, a sodium-glucose cotransporter-2 (SGLT-2) inhibitor, has demonstrated renoprotective effects in diabetic nephropathy, but its efficacy in non-diabetic proteinuric kidney disease remains underexplored. Objective: To assess the efficacy and safety of empagliflozin in reducing proteinuria and improving kidney function in CGN patients with treatment-resistant proteinuria. Methods: This was a non-randomized controlled trial conducted over six months at the Department of Nephrology, AFIU. A total of 200 adult patients (aged 20–60 years) with biopsy-proven CGN, proteinuria >500 mg/g, and eGFR ≥30 mL/min/1.73 m² were enrolled. Participants were assigned to either empagliflozin 25 mg daily (n = 100) or placebo (n = 100), in addition to standard care with RAAS inhibitors and immunosuppressants. Primary outcomes included changes in proteinuria, eGFR, and serum creatinine. Statistical analyses were performed using SPSS version 23, with significance set at p < 0.05. Results: Empagliflozin significantly reduced proteinuria by −225 ± 40 mg/g versus −10 ± 25 mg/g in the placebo group (p < 0.001). eGFR improved by +5.1 ± 3.4 mL/min/1.73 m² compared to −0.4 ± 1.2 in placebo (p < 0.001), while serum creatinine decreased by −0.12 ± 0.05 mg/dL vs +0.02 ± 0.08 mg/dL (p < 0.001). Greater reductions were observed in patients with baseline proteinuria ≥750 mg/g. Urinary tract infections occurred in 8% of empagliflozin users versus 2% of placebo (p = 0.03), with no serious adverse events noted. Conclusion: Empagliflozin effectively reduces proteinuria and enhances kidney function in patients with CGN unresponsive to conventional therapies, presenting a promising adjunctive treatment strategy.

Chaperone-mediated autophagy, heat shock protein 70, and serotonin: novel targets of beta-hydroxybutyrate in HFFD/LPS-induced sporadic Alzheimer's disease model.

Sporadic Alzheimer's disease (AD), which accounts for the majority of cases, is sturdily influenced by lifestyle factors such as dietary habits, obesity, and diabetes, leading to its classification as Type 3 diabetes. To model this pathological link, our AD-like model was developed by feeding Wistar male rats a high-fat diet with fructose in drinking water (HFFD) for 8 weeks, followed by a single dose of lipopolysaccharide (LPS). This group was compared with a normal control group fed a standard diet and a β-hydroxybutyrate (BHB)-treated group (125 mg/kg, p.o.), administered starting 3 h after LPS and continuing for 1 week. The results demonstrate that BHB treatment illuminated cognitive gains, as indicated by the Y-maze, Morris water maze, and novel object recognition tests. In addition, it preserved hippocampal cytoarchitecture, reduced neurodegeneration, and attenuated amyloid plaques and phosphorylated Tau deposition. Cellularly, BHB restored critical molecular mechanisms, including increased lysosomal-associated membrane protein 2A (LAMP2A) hippocampal content as the main marker of chaperone-mediated autophagy (CMA), along with the chaperon protein Hsp70. Moreover, BHB alleviated neuroinflammation by inhibiting the nucleotide-binding domain, leucine-rich-containing family,and pyrin domain-containing-3 (NLRP3) inflammasome activation alongside the downstream targets cleaved caspase-1 and IL-1β/IL-18 cytokines. BHB also reduced pyroptotic markers, caspase-11 and gasdermin-N, and microglia-induced inflammation as it shifted microglial polarization toward the neuroprotective M2 phenotype. Finally, BHB normalized hippocampal neurotransmitter levels of the inhibited acetylcholine and serotonin. These findings support BHB as a promising, multifaceted treatment for AD, highlighting the roles of CMA, Hsp70, and 5-HT in slowing disease progression and improving cognitive function.

Foamy macrophages in atherosclerosis: unraveling the balance between pro- and anti-inflammatory roles in disease progression

Atherosclerosis is a complex immuno-metabolic disease characterized by lipid accumulation and chronic inflammation within arterial walls, leading to cardiovascular events such as stroke and myocardial infarction. Central to the disease are arterial plaques initiated by modified low-density lipoproteins (LDL), particularly oxidized LDL, deposited in the arterial intima. This deposition activates tissue-resident macrophages (TRMs), inducing a lipid-loaded “foamy” phenotype. Additionally, endothelial dysfunction promotes monocyte recruitment, differentiation into macrophages, and further foam cell formation. Foamy macrophages were initially identified as anti-inflammatory but have recently shown dual functionality, possibly depending on the disease stage and phenotype. Recent mouse and human studies also identified subsets of “foamy” macrophages with both pro and anti-inflammatory features. This review examines “foamy” macrophage complex roles and phenotypic diversity in atherosclerosis, emphasizing their potential as therapeutic targets to reduce inflammation and slow disease progression.

Randomized, double-blind, placebo-controlled pilot study of metformin as an adjunctive therapy in Parkinson’s disease

BackgroundParkinson’s disease (PD) is caused by the progressive loss of dopaminergic neurons in the substantia nigra. Neuroinflammation is considered a key factor contributing to the pathophysiology of PD. Current gold-standard therapies for PD provide only symptomatic relief without slowing disease progression, highlighting the need to develop new disease-modifying treatments. Metformin has been demonstrated to exert a neuroprotective role in several neurodegenerative disorders including PD.AimThis study aimed to clarify the role of metformin as adjuvant therapy in patients with PD.MethodsSixty patients with PD were divided into 2 groups (n = 30). Patients in group 1 received levodopa/carbidopa (250/25 mg) three times daily for 3 months plus placebo (Control group), while those in group 2 received levodopa/carbidopa (250/25 mg) three times daily and 500 mg metformin two times daily (Metformin group). Patients were assessed via Unified Parkinson’s Disease Rating Scale (UPDRS). The serum concentrations of toll like receptor 4 (TLR-4), α-synuclein, brain derived neurotropic factor (BDNF), and high mobility group box 1 (HMGB-1) were measured before and after treatment.Primary outcomeThe improvement in UPDRS from baseline to 3 months.Secondary outcomeChange in the level of biological markers.ResultsThe control group did not show significant difference in UPDRS when compared to their baseline value by Wilcoxon test (P > 0.05), meanwhile the metformin group showed significant difference when compared to before treatment by Wilcoxon test (P < 0.05). There were no significant differences between the two groups in UPDRS after treatment (P > 0.05) by Man Whitney test. However, the metformin group showed a significant decrease in TLR-4, HMGB-1, and α-synuclein along with a statistically significant increase in BDNF (P < 0.05) when compared to its baseline and control group. The control group did not show any significant changes in all markers when compared to their baseline.ConclusionWhile no significant differences in UPDRS scores were observed between the metformin and control groups, trends in biomarker changes suggest a potential impact of adjunctive metformin use on the underlying pathophysiology of PD. Further studies are needed to assess its effects on motor symptoms over a longer duration.Clinical Trial Registrationidentifier NCT05781711.

Global status and trends in type 2 diabetes remission from 2002 to 2022: A bibliometric and visual analysis.

Type 2 diabetes mellitus (T2DM) is estimated to impact 693 million individuals globally by 2045. Diabetes remission has the potential to slow disease progression, alleviate psychological burdens, minimize complications, and improve quality of life. We aimed to perform a bibliometric analysis of research on T2DM remission. We searched the Web of Science (WoS) database to identify relevant publications on T2DM remission during 2002 to 2022. Research trends and hotspots in T2DM remission were analyzed using Bibliometrix R and CiteSpace. The analysis considered various factors such as publication year, authors, journal, institution, country/region, themes, thematic evolution, keywords, and keyword bursts. The WoS search yielded 2254 articles. The annual scientific output has consistently increased. Lee was the most prolific author (48 papers). Obesity surgery was the leading journal (296 publications), while diabetes care had the highest h_index (43). The University of Copenhagen was the most active institution (116 papers). The most productive countries were the US (476), China (347), the UK (180), Italy (121), and Japan (90). The top 3 keywords were "bariatric surgery," "weight loss," and "remission." From 2013 to 2015, the usage of the term "medical therapy" significantly surged, lasting for 3 years. The term "GLP-I receptor agonists" also had a lasting burst. In the past 5 years, "weight loss" and "low-calorie diets" have emerged as prominent areas of research. This study analyzed the research trends and key factors in the field of type 2 diabetes mitigation through bibliometrics, providing important data support and a basis for decision-making for future research and public health policies.

Keap1-independent Nrf2 regulation: A novel therapeutic target for treating kidney disease.

Keap1-independent Nrf2 regulation: A novel therapeutic target for treating kidney disease.

Co-Creating and Refining a Values Assessment Tool (VAsT) for Women With Metastatic Breast Cancer.

Patients with metastatic breast cancer (mBC) and their families often have differing perspectives on treatment goals. This highlights the need for systematically eliciting patients' and care partners' values to ensure values-aligned treatment decisions. This study aimed to inform the development of a values assessment tool to facilitate communication of priorities and preferences with oncology clinicians. Two rounds of semi-structured interviews were conducted with women with mBC from the Southeastern and Northeastern U.S. Recruitment included at least 50% of participants identifying as African American/Black, Latinx, Asian, American Indian, or Native American. The initial round of 13 interviews yielded eight candidate domains. After confirmatory interviews with additional participants, the researchers identified nine final domains relevant to treatment decisions for mBC: desire not to appear sick; desire to help other women with breast cancer by participating in clinical research; financial concerns; living to care for a loved one; maintaining sexuality; maintaining quality of life; maximizing time away from medical appointments; minimizing and managing side effects; and slowing disease progression with an effective treatment. Eliciting treatment decision values across multiple domains and effectively communicating them with clinicians is a crucial aspect of patient-centered care to align values with care goals. To help patients identify and express their values to clinicians, we are developing a values assessment tool specifically for mBC. Future research will pilot this tool to assess its impact on communication between clinicians and patients and health outcomes for women with mBC.

RNAi-mediated silencing of SOD1 profoundly extends survival and functional outcomes in ALS mice.

RNAi-mediated silencing of SOD1 profoundly extends survival and functional outcomes in ALS mice.

Biochemical and structural insights into position 97 micropolymorphisms in human leukocyte antigen (HLA)-C*12 allotypes and their differential disease associations.

Biochemical and structural insights into position 97 micropolymorphisms in human leukocyte antigen (HLA)-C*12 allotypes and their differential disease associations.

Managing hypertension in a patient with diabetic kidney disease: A clinical case

ABSTRACT Hypertension is a prevalent and challenging comorbidity in patients with diabetic kidney disease (DKD), contributing significantly to cardiovascular risk and the progression of renal disease. This case report discusses the primary care management of a middle-aged woman with hypertension and DKD who, despite adhering to triple antihypertensive therapy, continues to have uncontrolled blood pressure (BP). The clinical report explores evidence-based strategies for optimizing BP control while decreasing kidney disease progression. Dietary sodium restriction is highlighted as a particularly effective intervention for lowering BP in patients with volume-overloaded DKD. Angiotensin inhibition remains the cornerstone of therapy because of its renal and cardiac benefits, but additional antihypertensive agents are often necessary to achieve target BP levels. Long-acting thiazide or loop diuretics, along with calcium channel blockers and steroidal mineralocorticoid receptor antagonists, are recommended as additional pharmacological options to lower BP while reducing albuminuria. The newly approved nonsteroidal mineralocorticoid receptor antagonist, finerenone, sodium-glucose cotransporter-2 inhibitors, and glucagon-like peptide-1 receptor agonists have been shown to offer kidney- and heart-healthy benefits, making them integral to treatment strategies. Routine monitoring of BP, serum creatinine, estimated glomerular filtration rate, potassium, and albuminuria is critical to guiding treatment adjustments. This case underscores the necessity of a patient-centered approach to managing hypertension in DKD. By using a comprehensive strategy, primary care nurse practitioners can improve BP control, slow renal disease progression, reduce cardiac events, and prolong the life of these high-risk patients.

Therapeutic targeting of autosomal Parkinson's disease by modulation of Leucine-Rich Repeat Kinase 2 (LRRK2) protein.

Therapeutic targeting of autosomal Parkinson's disease by modulation of Leucine-Rich Repeat Kinase 2 (LRRK2) protein.

Multi-Targeted Kinase Inhibitor Therapy in Pediatric Bone and Soft Tissue Sarcoma Patients-A Single Centre Experience.

Patients with relapsed or refractory soft tissue and bone sarcomas have dismal outcomes. Multi-targeted kinase inhibitors (mTKI) have proven to be potent agents in several malignancies, both as primer therapy and as a salvage option. Our aim was to evaluate the clinical outcomes of mTKI treatment in a heterogeneous group of pediatric sarcoma patients retrospectively. A total of 18 patients were treated with sorafenib, regorafenib, or pazopanib; 13 of them had osteosarcoma (OSC), 3 had synovial sarcoma (SySa), and 1-1 patient had chondrosarcoma and rhabdomyosarcoma. Indication for mTKI treatment was primarily progressive, inoperable, relapsed, or chemotherapy-resistant disease after completion of first- and second-line chemotherapy. At the time of the beginning of mTKI treatment, the median age was 16.5 years, and the median time to progression from initiation of mTKI was 4 months. The overall response rate was 16%. We conducted a comparison of the survival outcomes of OSC patients receiving mTKIs against a retrospective, non-randomized control group. Overall survival was evaluated from the time of progression or relapse after second-line treatment to the time of death. The log-rank test revealed a significant difference in the survival distribution between patients receiving mTKIs and those who did not (chi2(1) = 8.13 p = 0.004). We observed benefits from mTKI treatment in 3 SySa patients, with pazopanib demonstrating effectiveness and no progression observed thus far. Our findings suggest that mTKIs are well-tolerated and can serve as a therapeutic option for refractory bone sarcomas as palliative treatment, aiming to slow disease progression and uphold a good quality of life.

Comprehensive Management of Knee Osteoarthritis

Abstract Knee osteoarthritis (OA) is a prevalent degenerative joint disorder characterized by progressive cartilage loss, chronic pain, and functional impairment. Effective management requires a multifaceted approach tailored to the disease stage, symptom severity, and individual patient needs. This review provides a comprehensive overview of current evidence-based strategies for managing knee OA, encompassing non-pharmacologic, pharmacologic, and surgical interventions. Non-pharmacologic treatments, including patient education, physical therapy, and weight management, form the cornerstone of early OA care. Pharmacologic options such as acetaminophen, NSAIDs, and intra-articular injections are utilized to control pain and inflammation. For advanced cases, surgical options like total knee arthroplasty may be indicated. Emerging therapies and personalized treatment plans are also explored. A holistic, patient-centered approach is essential to improve quality of life and slow disease progression in individuals with knee OA. Keywords Knee osteoarthritis, degenerative joint disease, pain management, physical therapy, non-pharmacologic treatment, pharmacologic therapy, total knee replacement, intra-articular injection, patient-centered care, joint preservation.

STUDYING THE PREVALENCE AND NEGATIVE IMPACT OF DIFFERENT TYPES OF TOBACCO PRODUCTS ON ADOLESCENT HEALTH

Introduction. Recently, alternative forms of tobacco use, particularly electronic devices for heating tobacco (vapes), have gained significant popularity among adolescents. The aim of the study was to analyze the prevalence of tobacco product use among adolescents, including those with a history of bronchopulmonary disease, and to assess the impact of tobacco use on adolescent health. Materials and methods. A total of 1,280 adolescents aged 12 to 17 years were surveyed using a one-step anonymous questionnaire. The study was conducted in accordance with the principles outlined in the Declaration of Helsinki. The study protocol received approval from the Local Ethics Committee of all participating institutions. Informed consent was obtained from the parents or guardians of the participants. Data analysis was performed using STATISTICA for Windows 10 Pro. Results. The results of the survey revealed that tobacco product use among adolescents was twice as high in boys compared to girls, aligning with findings from other studies. Vapes were the most commonly used tobacco product, reported by 70.77% of girls and 51.54% of boys who used tobacco. Analysis of the data also showed a history of bronchopulmonary pathology among respondents: over half (67%) had experienced bronchitis, 23.5% had pneumonia, 4.5% had allergic rhinitis, and 5% had bronchial asthma. Despite these conditions, many continued to use various types of tobacco products. While recent research has increasingly focused on pulmonary fibrosis in adult patients, similar studies remain lacking in the pediatric population. Conclusions. Developing diagnostic methods for detecting pulmonary fibrosis in pediatric patients with bronchial asthma is crucial, as it enables early identification of fibrotic changes, slows disease progression, and enhances the quality of life in affected children.

Hereditary Transthyretin Amyloidosis with Polyneuropathy

Variant transthyretin amyloidosis with polyneuropathy (ATTRv-PN) is a rare, progressive multisystem disorder caused by pathogenic variants in the transthyretin (TTR) gene. Primarily characterized by polyneuropathy, the disease results from amyloid fibril deposition in the endoneurium, which leads to progressive sensory, motor, and autonomic impairments. ATTRv-PN exhibits significant clinical heterogeneity driven by genotype–phenotype correlations, complicating diagnosis—especially in nonendemic regions. Early recognition through genetic testing, advanced imaging techniques, and tissue biopsies is essential to initiate timely treatment and improve patient outcomes. The therapeutic landscape has advanced considerably with the development of TTR stabilizers, such as tafamidis and diflunisal, which slow disease progression by preventing TTR tetramer dissociation. Moreover, gene‐silencing therapies—including patisiran, vutrisiran, inotersen, and eplontersen—target TTR mRNA to reduce amyloid formation and have demonstrated substantial efficacy in clinical trials. These treatments improve neuropathy progression, quality of life, and survival, particularly when initiated early. This review emphasizes the critical importance of early detection, personalized treatment strategies, and ongoing research into innovative therapies to address the unmet needs of patients with ATTRv-PN. Continued advances in diagnostic tools and therapeutic approaches hold promise for significantly improving prognosis and quality of life for affected individuals.