Balkan Medical Journal最新文献

Background: Polycystic ovary syndrome (PCOS) has a significant impact on endocrine metabolism, reproductive function, and mental health in women of reproductive age. The accuracy of ultrasound in identifying polycystic ovarian morphology remains variable.

Aims: To develop a deep learning model capable of rapidly and accurately identifying PCOS using ovarian ultrasound images.

Study design: Prospective diagnostic accuracy study.

Methods: This prospective study included data from 1,751 women with suspected PCOS with clinical and ultrasound information collected and archived. Patients from center 1 were randomly divided into a training set and an internal validation set in a 7:3 ratio, while patients from center 2 served as the external validation set. Using the YOLOv11 deep learning framework, an automated recognition model for ovarian ultrasound images in PCOS cases was constructed, and its diagnostic performance was evaluated.

Results: Ultrasound images from 933 patients (781 from center 1 and 152 from center 2) were analyzed. The mean average precision of the YOLOv11 model in detecting the target ovary was 95.7%, 97.6%, and 97.8% for the training, internal validation, and external validation sets, respectively. For diagnostic classification, the model achieved an F1 score of 95.0% in the training set and 96.9% in both validation sets. The area under the curve values were 0.953, 0.973, and 0.967 for the training, internal validation, and external validation sets respectively. The model also demonstrated significantly faster evaluation of a single ovary compared to clinicians (doctor, 5.0 seconds; model, 0.1 seconds; p < 0.01).

Conclusion: The YOLOv11-based automatic recognition model for PCOS ovarian ultrasound images exhibits strong target detection and diagnostic performance. This approach can streamline the follicle counting process in conventional ultrasound and enhance the efficiency and generalizability of ultrasound-based PCOS assessment.

Background: Idiopathic pulmonary fibrosis (IPF) is a form of interstitial lung disease characterized by progressive lung scarring. It involves destruction of the alveolar architecture, thickening of the basement membrane, abnormal deposition of the extracellular matrix, inflammatory cell infiltration in the interstitial space, and formation of fibroblast foci. Mutations in telomerase reverse transcriptase (TERT) have been reported to be associated with IPF.

Aims: To explore the genetic cause of a family affected by IPF and chronic obstructive pulmonary disease.

Study design: Cross-sectional study.

Methods: Whole-exome sequencing combined with IPF candidate gene filtering was used to identify the causative mutations. Sanger sequencing was applied to validate the mutation and perform c-segregation analysis. Real-time polymerase chain reaction (PCR) was conducted to analyze the telomere lengths of family members.

Results: We identified a rare mutation, c.2669G > A (p. Gly890Asp), in TERT (NM_198253.2) in the proband and another affected family member. Bioinformatics analysis predicted this mutation to be deleterious, and structural modeling suggested that it altered the structure and surface charge distribution of the TERT protein. Additionally, real-time PCR demonstrated that mutation carriers had significantly shorter telomere lengths compared with individuals of the same age. According to American College of Medical Genetics and Genomics guidelines, this rare mutation was classified as likely pathogenic.

Conclusions: This is the first reported case of IPF caused by the p. Gly890Asp mutation of TERT in the Chinese population. Our findings support the diagnosis of IPF in the patient and further highlight the role of TERT in the disease.

Anaphylaxis is a severe, rapidly developing systemic hypersensitivity reaction that can be life-threatening if not promptly identified and treated. Its global incidence is on the rise, especially among children, though fatal outcomes remain uncommon. This review summarizes the current understanding of anaphylaxis, covering its epidemiology, triggers, acute management, and strategies for long-term prevention, with emphasis on cases caused by food, medications, and insect stings.The estimated lifetime prevalence of anaphylaxis ranges from 0.05% to 2%. In children, food is the primary trigger, whereas in adults, medications are the most commonly responsible. The main culprits for food-related anaphylaxis differ by region: in Western countries, peanuts and tree nuts predominate; in East Asia, hen’s eggs and cow’s milk are most frequent; and in Southeast Asia, seafood is the leading cause. Drug-induced anaphylaxis-often the main cause of anaphylaxis-related deaths worldwide-is increasing due to the growing use of chemotherapies and biologic agents. Insect stings cause about 10% of all cases and remain the most common cause of fatal anaphylaxis.Intramuscular adrenaline continues to be the primary treatment, yet its administration is often delayed or insufficiently used. Patients should be prescribed adrenaline autoinjectors following an initial reaction, but availability and usage rates differ widely across countries. Education for patients and caregivers and the creation of clear action plans are essential. New alternatives, such as intranasal and sublingual adrenaline devices, are being developed to improve access and minimize hesitation in treatment. For prevention, VIT is well established and highly effective, preventing systemic reactions in over 90% of cases. Drug desensitization enables safe administration of necessary medications despite confirmed allergies, and this approach is suitable for all ages, including children. Oral immunotherapy for food allergens can increase tolerance levels and lower the chance of accidental exposure in selected patients, though safety concerns limit its widespread use.Biologic therapies like omalizumab present new treatment avenues for patients with multiple food or drug allergies. Recent studies have shown that omalizumab can raise the threshold for reactions to peanuts and other allergens in children. Case reports also indicate it may improve safety during drug desensitization, including for chemotherapy.Ongoing progress in diagnosis, emergency readiness, immunotherapies, and biologics continue to broaden the range of options for managinganaphylaxis. Nonetheless, gaps in access, awareness, and supportingevidence-particularly for children and older adults-underscore the needfor additional research and health system investment.