Ioana Golu

Background: Accurate preoperative localization of hyperfunctioning parathyroid glands remains challenging, particularly in secondary hyperparathyroidism where multiglandular disease may compromise scintigraphic performance. Methods: Our study evaluated biochemical, morphometric, and histopathological predictors of ^99mTc-sestamibi scintigraphy detectability in both primary and secondary hyperparathyroidism. The study group included a total of 162 patients with primary and secondary hyperparathyroidism who underwent dual-phase ^99mTc-sestamibi scintigraphy followed by parathyroidectomy. Demographics, biochemical parameters, histopathological features, lesion volume and scintigraphic findings were assessed at patient and lesion level. Results: In primary hyperparathyroidism, adenomas were larger and more frequently detected than hyperplastic glands. Lesion volume and solid growth pattern were found as positive predictors of sestamibi uptake. In secondary hyperparathyroidism, nodular hyperplasia was associated with larger volume, higher cellularity, and more frequent localizing studies. Upper quadrant position and diffusely hyperplastic lesions were associated with higher lesion miss rates, while lesion volume increased the likelihood of detection. Conclusions: Our findings highlight that ^99mTc-sestamibi scintigraphy performance is strongly influenced by lesion volume, histopathological architecture and anatomical position, underscoring the needs for cautious interpretation of negative or incomplete scans, especially in secondary hyperparathyroidism.

Purpose: This study aimed to analyze the applicability of different shear wave elastography (SWE) methods in the diagnosis, differentiation, and monitoring of subacute thyroiditis (SAT). Methods: This prospective study included 26 patients diagnosed with SAT and 40 healthy controls. All participants underwent conventional B‐mode ultrasonography followed by two‐dimensional shear wave elastography (2D‐SWE), using a 4–15 MHz linear transducer (Aixplorer, Supersonic Imagine, France). Thyroid stiffness was assessed in kilopascals (kPa) and evaluated at diagnosis, 4 weeks, and 8 weeks. Statistical analysis included t ‐tests, repeated‐measures ANOVA, receiver operating characteristic curve analysis, and Youden Index calculation to determine optimal diagnostic cut‐off values. Results: Baseline thyroid stiffness in SAT patients was significantly higher than in controls (127.25 ± 54.06 kPa vs. 19.5 ± 7.1 kPa; p < 0.001). Stiffness values decreased over time, reaching 117 ± 44.67 kPa at 4 weeks and 57.17 ± 22.89 kPa at 8 weeks. An exploratory cutoff value of 37.2 kPa showed complete separation between groups within this specific cohort. Beyond baseline group differences, the most relevant finding was the longitudinal change in thyroid stiffness during clinical recovery, supporting the role of SWE as a quantitative imaging biomarker of inflammatory activity. Conclusions: 2D‐SWE showed promising performance as a quantitative imaging biomarker for evaluating and monitoring SAT in this exploratory cohort. It provides valuable quantitative data on tissue stiffness, complementing conventional ultrasound and aiding clinical decision‐making during follow‐up.

Background/Objectives: X-linked hypophosphatemia (XLH) is the most common form of inherited rickets, caused by pathogenic mutations in the PHEX gene (phosphate-regulating endopeptidase homolog, X-linked). These mutations increase fibroblast growth factor 23 (FGF23) activity, resulting in renal phosphate wasting and defective bone mineralization. The disorder manifests with variable skeletal, dental, and extraskeletal involvement. Conventional therapy with oral phosphate and active vitamin D offers limited benefit, whereas burosumab, an anti-FGF23 monoclonal antibody, has transformed disease management. Methods: The index case, a 43-year-old woman, remained undiagnosed until adulthood, leading to severe deformities, osteoarthritis, chronic pain, and complete edentulism. Her 55-year-old sister presented with a milder phenotype. The 20-year-old nephew, diagnosed in childhood and intermittently treated with phosphate and alfacalcidol, developed short stature, genu varum, and early degenerative joint disease. Following genetic confirmation, he began burosumab therapy, which normalized phosphate metabolism, reduced pain, and improved mobility. Results: XLH demonstrates marked intrafamilial phenotypic variability despite identical PHEX mutations. In this series, delayed recognition in adults led to irreversible skeletal deformities, osteoarthritis, and dental loss, whereas earlier diagnosis in the younger patient allowed timely intervention. Conventional therapy only partially mitigated complications, while burosumab achieved rapid biochemical correction and symptomatic improvement. This contrast highlights the importance of early genetic testing, family screening, and prompt initiation of targeted treatment. Conclusions: This family cluster underscores the critical need for early diagnosis, genetic confirmation, cascade screening, and lifelong multidisciplinary care. Burosumab represents a therapeutic paradigm shift in XLH, capable of altering disease trajectory when initiated early.

Background: Type I collagen is the most abundant protein of the extracellular matrix. Pathogenic variants in COL1A1 or COL1A2 are classically associated with osteogenesis imperfecta (OI) and Ehlers–Danlos syndrome (EDS). An emerging clinical entity—COL1-related overlap disorder—encompasses individuals exhibiting phenotypic features of both conditions. Methods: We report a 55-year-old male presenting with disproportionate short stature, grayish-blue sclerae, multiple fractures, long bone deformities, joint hypermobility, and atrophic surgical scarring. The patient also had long-standing, untreated childhood-onset hypopituitarism. Imaging studies revealed numerous prior fractures, bowing of forearm bones, and multiple Wormian bones. Results: Genetic testing confirmed a novel heterozygous COL1A1 exon 14 variant (c.940G > A, p.Gly314Arg), presenting with a phenotype consistent with a COL1-related overlap syndrome. Conclusions: This case expands the phenotypic spectrum of COL1A1 mutations and supports the concept of COL1-related phenotypic overlap.

Thyroid cancer is the most common endocrine malignancy, and preoperative distinction between benign and malignant nodules remains challenging, especially in cytologically indeterminate cases. Circulating microRNAs (miRNAs) have gained interest as non-invasive biomarkers due to their stability and involvement in tumorigenesis. This study aimed to assess the preoperative diagnostic value of circulating miR-146a and miR-221 in patients undergoing thyroidectomy. A total of 56 patients were included, of whom 24 had malignant and 32 had benign thyroid lesions confirmed by histopathology. Preoperative plasma levels of miR-146a and miR-221 were quantified using qRT-PCR, and relative expression was calculated with the 2^−ΔΔCt method. miR-221 expression was significantly higher in malignant cases, with an area under the ROC curve of 1.00, achieving 100% sensitivity and specificity at the optimal threshold. miR-146a showed no significant discriminatory ability. Weak correlations were observed between miRNA expression and clinical parameters such as age, TIRADS score, or thyroid volume. Logistic regression including miR-221 led to perfect separation, indicating strong predictive capacity but precluding multivariate modeling. These findings suggest that circulating miR-221 may serve as a highly accurate biomarker for thyroid malignancy and warrant further validation in larger, prospective cohorts.

Background and Objectives: The prevalence of thyroid nodules and type 2 diabetes mellitus (T2D) has increased. This study firstly aims to assess the prevalence of T2DM among thyroid nodules patients who underwent total thyroidectomy in the Western Romanian population. By focusing on the biochemical and hormonal parameters, it also aims to provide insights into possible connections between T2D and different types (benignant or malignant) of thyroid nodules. Materials and Methods: A total of 926 patients who underwent total thyroidectomy were analysed, comprising 99 (10.7%) T2D patients and 827 (89.3%) non-diabetic patients (non-T2D). Results: This study’s results revealed an increased prevalence of T2D among thyroid nodules patients. Among these patients, higher values of FT4 and inflammatory markers and a higher prevalence of malignant nodules (55%, p = 0.001) were noted. Conclusions: Our study revealed an increased prevalence of T2D among thyroid nodules patients. The biochemical profile of thyroid nodules in T2D patients presents aspects, like elevated FT4 and inflammatory markers, which should be considered in their clinical management. Furthermore, a T2D patient seems to be more likely to develop thyroid malignancies. Thyroid screening strategies in diabetic patients should be considered.

(1) Background: Acromegaly is a rare disease associated with multiple complications. Consequently, it has a high clinical burden, which leads to a lower quality of life (QoL). The Acromegaly Quality of Life Questionnaire (AcroQoL) is a specific tool developed to assess the impact of the disease on a patient’s physical and emotional well-being. Current research on anxiety has shown that higher levels of psychosocial factors are linked to a poorer quality of life. (2) Methods: Our study included 40 patients (26 women and 14 men) with a mean disease duration of 85.9 ± 97.7 months. Information about disease status, associated comorbidities, and clinical and paraclinical data was obtained. All patients completed the AcroQoL questionnaire. (3) Results: The lowest score was observed on the physical scale, while the least affected scale was personal relations. Biochemical parameters, biochemical control, and adenoma size were not associated with a lower QoL. Gender, age at diagnosis, and comorbidities, such as hypertension and arthropathy, were associated with a decrease in QoL. Additionally, the presence of anxiety and depression, which were mostly reported by women (30.7%), had a negative impact on the global QoL. (4) Conclusions: Early diagnosis of acromegaly can increase the QoL by preventing comorbidities, but there are also non-modifiable factors that have been associated with a decreased QoL. Preventing depression and anxiety could serve as important targets for future interventions.

Background and Objectives: Laryngeal squamous cell carcinoma (LSCC) is a common head and neck cancer with significant morbidity and mortality. Circulating microRNAs (miRNAs) have emerged as promising non-invasive biomarkers for cancer diagnosis and prognosis. This systematic review aims to identify circulating miRNAs associated with LSCC, emphasizing those validated by at least two independent studies to improve reliability and clinical applicability. Methods: An extensive literature search was performed in the PubMed, Scopus, and Web of Science databases up to October 2024, using keywords related to LSCC and circulating miRNAs. Studies involving human participants that provided quantitative data on circulating miRNA expression levels and their clinical correlations were included. Data extraction and quality assessment were conducted following standardized protocols, highlighting miRNAs reported in multiple studies. Results: Nine high-quality studies encompassing 660 patients with LSCC and 212 controls were included. Several miRNAs were consistently identified across these studies. miR-21-5p was upregulated in four studies and associated with advanced disease stages, lymph node metastasis, and decreased survival rates. miR-125b-5p and miR-126-3p were consistently downregulated, linked to advanced clinical stages and poor tumor differentiation. miR-27a-3p was upregulated in two studies and correlated with poor prognosis, promoting LSCC progression by targeting Smad4. Additionally, miR-33a-5p was identified as a potential diagnostic biomarker with high sensitivity and specificity. These miRNAs show potential as non-invasive biomarkers for the diagnosis and prognosis of LSCC. Conclusions: This systematic review highlights specific circulating miRNAs—particularly miR-21-5p, miR-125b-5p, miR-126-3p, miR-27a-3p, and miR-33a-5p—as promising biomarkers for LSCC. The consistent findings across independent studies emphasize their potential clinical utility in early detection, prognostic assessment, and therapeutic targeting. However, further validation in larger and more diverse populations, along with the standardization of detection methods, is necessary before these biomarkers can be implemented in clinical practice.

Background and Objectives: Colorectal cancer is a major contributor to global cancer morbidity and mortality. Surgical resection remains the cornerstone of treatment, but postoperative complications can significantly affect patient outcomes. Identifying factors that influence postoperative morbidity and mortality is crucial for optimizing patient care. This study aims to evaluate the impact of preoperative, intraoperative, and postoperative factors on surgical outcomes in patients with colorectal cancer. Methods: A retrospective cohort study was conducted on 688 patients who underwent colorectal cancer surgery within a 10-year period. Data collected included demographic information, comorbidities, laboratory values, surgical details, and postoperative outcomes. Statistical analyses were performed using chi-square tests for categorical variables and t-tests for continuous variables. Multivariate logistic regression was used to identify independent predictors of postoperative complications and mortality. Results: Postoperative complications occurred in 28.5% of patients, and the 30-day mortality rate was 5.2%. Preoperative factors such as elevated C-reactive protein (CRP) levels (p < 0.001), low albumin levels (p = 0.003), a high American Society of Anesthesiologists (ASA) score (p < 0.001), and presence of comorbidities like diabetes and hypertension (p = 0.005) were significantly associated with increased postoperative complications. Intraoperative factors such as blood loss greater than 500 mL (p < 0.001) and longer operative time (p = 0.021) were also significant predictors of adverse outcomes. Multivariate analysis identified elevated CRP (OR 2.1, 95% CI 1.5–2.9), low albumin (OR 1.8, 95% CI 1.3–2.5), and blood loss > 500 mL (OR 2.4, 95% CI 1.7–3.4) as independent predictors of postoperative complications. Conclusions: Preoperative inflammatory markers, nutritional status, ASA score, comorbidities, and intraoperative factors like blood loss significantly influence postoperative outcomes in colorectal cancer surgery. Recognizing these risk factors allows for better preoperative optimization and surgical planning, potentially reducing postoperative morbidity and mortality.