Orvosi hetilap最新文献

The clinical symptoms of paraneoplastic syndromes affecting the retina are varied and difficult to recognize. Ocular symptoms often appear as the first symptom, even before the diagnosis of cancer, so their recognition is of great importance. In our paper, we discuss paraneoplastic syndromes affecting the retina: cancer-associated retinopathy, melanoma-associated retinopathy, paraneoplastic vitelliform maculopathy, paraneoplastic optic neuropathy, and bilateral diffuse uveal melanocyte proliferation with case reports. Our goal is to contribute to the early diagnosis and rapid, adequate treatment of cancer through the early detection of paraneoplastic ophthalmic syndromes and a multidisciplinary approach. Orv Hetil. 2025; 166(48): 1898-1907.

The study reviews the development of the concept of healthcare quality starting from its foundations in the second half of the 20th century. Donabedian's landmark publication in 1966 distinguished three dimensions - structure, process, outcome - into which all topics of healthcare quality can be allocated. Donabedian's groundwork expanded into an important field of research both in the United States and Europe. The conceptual foundations were further enriched by the introduction of the health system concept of the World Health Organization, and by the "Health Care Quality Indicators" project launched by the OECD in 2006. The development of quantitative indicators of healthcare quality, primarily those related to outcomes such as burden of disease enabled comparisons between diseases and across countries. The core characteristics of health care quality, showing the strongest relation to the desired outcome ("health") according to the updated concept of the OECD are effectiveness, safety, and patient-centeredness. Hungary did not participate in the OECD project on healthcare quality development, and patient-centeredness has not been included among the characteristics of healthcare quality in the country as opposed to effectiveness and safety. This is a disadvantage in healthcare financed by social insurance not only in terms of relevant indicators not being monitored but also in comparison to private providers of healthcare which are expressly patient-centered. Patient satisfaction monitored by some Hungarian institutions represents only one and not even the most important indicator of the complex concept of patient-centeredness. One of the future challenges for the Hungarian healthcare system is the development and international alignment of the concept of healthcare quality, since any outcome of a healthcare system can only be interpreted in light of the extent to which it ensured subjectively positive experiences for patients. Orv Hetil. 2025; 166(48): 1887-1897.

Introduction: Chronic thromboembolic pulmonary hypertension (CTEPH) is a rare but potentially curable form of pulmonary hypertension. Its pathophysiological background involves incomplete thrombus resolution following acute pulmonary embolism, in situ thrombosis, and vascular remodeling. An increase in pulmonary vascular resistance leads to persistent pulmonary hypertension, which, if left untreated, may progress to fatal right heart failure. CTEPH is often considered a "hidden" disease, as its nonspecific symptoms are frequently misattributed to other conditions.

Objective: To provide an update overview of the epidemiology, pathophysiology, diagnostic challenges, and therapeutic options of CTEPH, with particular emphasis on the role of the general practitioners and the internists in early recognition.

Method: A narrative literature review based on the 2022 ESC/ERS guidelines, the most recent European and international registries, and contemporary review.

Results: The incidence of CTEPH following pulmonary embolism is estimated at 2-4%, although its true prevalence is likely higher. Diagnostic delays are common, with patients typically presenting to pulmonary hypertension centers 18-24 months after symptom onset. Pulmonary endarterectomy offers a curative treatment option for patients with surgically accessible central lesions. For inoperable or residual CTEPH, balloon pulmonary angioplasty and targeted pharmacological therapy, such as riociguat, have opened new therapeutic perspectives.

Discussion: Diagnosis of CTEPH remains a complex challenge. General practitioners have a pivotal role by considering CTEPH in patients with recurrent dyspnea, exercise intolerance, signs of right heart failure, or persistent symptoms following pulmonary embolism, and by ensuring timely referral to specialized pulmonary hypertension centers.

Conclusion: Early diagnosis and evidence-based management of CTEPH can significantly improve both quality of life and survival. As general practitioners and internists are on the frontline, their awareness and education are crucial for early disease recognition. Orv Hetil. 2025; 166(48): 1908-1915.

Non-alcoholic fatty liver disease (NAFLD) - more recently referred to as metabolic dysfunction-associated steatotic liver disease (MASLD) - has become a widespread public health concern. Among the various factors contributing to its development and progression toward more severe forms (including steatohepatitis, liver fibrosis, cirrhosis, and hepatocellular carcinoma), a single nucleotide polymorphism in the PNPLA3 gene, resulting in an amino acid substitution, has emerged as one of the key genetic factors. Over the past two decades, this variant has been extensively studied. Current knowledge regarding both the clinical relevance of this variant and the role of its gene product in disease pathogenesis continues to expand, providing increasing insight into the physiological and pathological functions of PNPLA3 gene variants and their encoded protein isoforms. Although PNPLA3 genotyping is not yet part of routine diagnostics or therapeutic decision-making, the growing body of research and the variant's considerable effect size suggest potential future applications in prognostic assessment and therapeutic strategies - particularly within the framework of personalized medicine. The aim of this review is to provide a structured summary of the currently available published evidence, covering aspects of PNPLA3 functionality, biological mechanisms, clinical implications, and its potential utility in diagnostics, disease progression assessment, and therapeutic interventions. Orv Hetil. 2025; 166(47): 1843-1856.

Oncology clinical trials play a pivotal role in the development of new therapeutic options; however, their implementation remains an extremely costly and time-consuming process. Artificial intelligence can open new horizons in the design and conduct of clinical trials, particularly in early phases, where safety, dose planning, and patient recruitment efficiency are critical. This paper aims to explore the potential applications of artificial intelligence in various stages of early-phase oncology trials, including biostatistical design, patient enrollment, and quality assurance aspects. Based on case studies and examples from the literature, it can be concluded that artificial intelligence can assist with precise protocol design, shorten recruitment timelines, and improve predictive performance in dose planning and patient selection, thereby reducing the number of adverse events. At the same time, regulatory, ethical, and data protection challenges remain significant barriers to the widespread adoption of artificial intelligence. Integrating artificial intelligence into clinical trials requires not only technological but also strategic-level modernization, from the industrial companies and authorities as well. The reliable and validated application of artificial intelligence could represent a major advancement in clinical research, particularly in increasing the success rate of early-phase trials. Orv Hetil. 2025; 166(47): 1857-1868.

Introduction: Newborn hearing screening plays a crucial role in the early detection and treatment of hearing loss.

Objective: This study presents a database developed by Hungarian software engineers, designed for the collection and analysis of data on hearing screening and subsequent care. The National Newborn Hearing Screening Registry has been collecting data since September 1, 2019, on mandatory objective hearing screening conducted in neonatal units and neonatal intensive care centres, along with confirmations from five designated verification centres. The aim of the study is to describe the structure of the database and to analyze the data collected.

Method: The registry aggregates data from screening devices performing brainstem-evoked response audiometry (BERA) via machine-to-machine communication. Indicators were defined and analyzed using registry data collected over a five-year period (2020-2024) and evaluated annually.

Results: During the study period, hearing screening data for a total of 345,945 newborns were recorded in the database. According to the registry data, screening coverage was 80.16%. Among screened newborns, 6.14% were referred due to suspected hearing loss. Only 16.81% of those who had a positive screening result underwent audiological evaluation at a verification centre, according to the transferred data.

Discussion: Data reported to the registry indicate that newborn hearing screening is not yet comprehensive. The high rate of suspected cases places an increased burden on the health care system and affected families. There is a low rate of data transfer to verification centres, raising concerns regarding access to adequate audiological diagnostics and treatment for screened children.

Conclusion: These findings underscore the importance of standardized data collection for effective hearing rehabilitation. The results provide insight into care pathways and highlight critical deficiencies in the system that require improvement. Data collection alone is insufficient; continuous data and patient follow-up are essential. Enhancing the involvement and awareness of health visitors and pediatricians is also key, which constitutes one of the main objectives of this study. Orv Hetil. 2025; 166(47): 1869-1876.

Sleeve gastrectomy has been the most commonly performed metabolic surgical procedure in recent years. One of its rare but serious postoperative complications is staple line leak. Due to the high intraluminal pressure within the gastric sleeve, its management is technically challenging. Over time, treatment strategies have shifted from surgical approaches toward interventional radiologic and endoscopic techniques. In this case report, we present a 37-year-old female patient who underwent sleeve gastrectomy for morbid obesity. Postoperatively, she developed abdominal symptoms prompting a CT scan, which initially revealed a perigastric hematoma. This was drained by interventional radiology. Following drain removal and a brief period of clinical improvement, her symptoms recurred. A repeat CT scan demonstrated contrast extravasation and a collection adjacent to the staple line. A new percutaneous drain was inserted via interventional radiology. She was then referred to our bariatric unit, where the defect was definitively closed using endoscopic suturing system under general anesthesia, followed by placement of a self-expanding metal stent. The stent was well tolerated, with no migration. After 5 weeks, it was successfully removed. A subsequent CT scan showed no further contrast leak. The patient is currently asymptomatic, satisfied with her weight loss trajectory and quality of life. This case highlights that the management of staple line leaks after sleeve gastrectomy has evolved, with less invasive methods – such as interventional radiology and endoscopy – and their combination now playing a central role in treatment. Orv Hetil. 2025; 166(46): 1827–1832.

Introduction: Voluntary bans on smoking inside the home reduce exposure to secondhand smoke, prevent smoking uptake, and support cessation. In Hungary, limited data are available on the temporal changes and correlates of smoke-free household rules. Objective: To examine the prevalence, temporal trend, and sociodemographic correlates of voluntary bans on traditional tobacco smoking inside the home. Method: We conducted a secondary analysis of data from two surveys in 2009 and one in 2022. The unit of analysis was the household. We applied Z-tests, Cochran–Armitage trend tests, and binomial logistic regression with calculation of average marginal effects (AMEs). Results: The proportion of households with a complete ban on smoking inside the home increased in Hungary from 60.6% in 2009 to 75.1% in 2022 (h = 0.3; p<0.01). Nevertheless, in 2022, 25.2% (95% CI: 22.5–28.0%) of children under the age of 18 still lived in households where smoking inside the home was allowed. Financial difficulties (AME ≈ –0.09 to –0.01) and the presence of a smoker in the household (AME ≈ –0.42 to –0.30) had a negative association in all models. The presence of a child under 18 years slightly increased the likelihood of a complete ban (AME ≈ 0.02 to 0.10). Discussion: Although there has been improvement, minors are still not adequately protected from indoor tobacco smoke in all Hungarian households. Conclusion: Our findings highlight the need for targeted health communication and intervention programmes, particularly among disadvantaged households with children and at least one smoker. Orv Hetil. 2025; 166(46): 1818–1826.