Oana Popa

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.

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.

Introduction: Graves’ disease (GD) is an autoimmune disorder affecting the thyroid gland, leading to systemic manifestations such as hyperthyroidism, Graves’ orbitopathy, and pretibial myxedema. Contrary to previous beliefs that hyperthyroidism protects against thyroid cancer, recent studies reveal an increased incidence of thyroid malignancies in GD patients, particularly differentiated thyroid carcinomas and, in rare cases, medullary thyroid carcinoma (MTC). Case series: This case series presents three female GD patients diagnosed with MTC, highlighting the complexities of diagnosis and management. All patients exhibited thyroid nodules with suspicious ultrasonographic features, elevated plasma calcitonin levels, and required total thyroidectomy. Histological examination confirmed MTC. Discussion: These cases underscore the importance of routine calcitonin screening in GD patients with thyroid nodules to facilitate early detection and improve prognosis. Our findings suggest that while the coexistence of GD and MTC is likely incidental, vigilant monitoring and comprehensive evaluation are crucial for timely intervention. Conclusions: This study advocates for integrating calcitonin testing into the standard diagnostic protocol for GD patients presenting with thyroid abnormalities.

Background and objectives: The aim of this study was to evaluate the clinical–pathological profile in young patients with thyroid cancer. Materials and methods: We realized a retrospective study on patients with thyroid neoplasms who underwent surgery at the “Pius Brinzeu” County Clinical Emergency Hospital in Timisoara, Romania. A comparative analysis of some parameters between two groups, young patients (Results: A total of 211 patients met the study inclusion criteria, mostly females (86.26%) with a female/male ratio of 6.81:1. In patients 1 cm; 13.46% had extrathyroidal extension (p = 0.0430); 21.15% capsule invasion (p = 0.1756); 23.08% lympho-vascular invasion (p = 0.0048); and 13.46% of cases locoregional nodal invasion (p = 0.0092). Conclusions: Thyroid cancer in young people was associated with chronic lymphocytic thyroiditis and tumor progression parameters, identifying more cases of extrathyroidal extension, locoregional nodal invasion, lympho-vascular invasion and perineural invasion in young patients compared to older ones. For a better understanding of this pathology and to improve diagnosis and therapeutic management, more studies are needed for these patients.

Background and Objectives: primary thyroid lymphoma (PTL) is a rare neoplasm, displaying a variety of histological features. It is often a challenge for pathologists to diagnose this tumor. Materials and Methods: this study is a retrospective analysis of clinical and pathological characteristics of a group of eleven patients (eight women and three men, mean age 68 years, range 50–80 years) diagnosed with PTL. Results: nine patients (81.81%) presented a tumor with progressive growth in the anterior cervical region, usually painless and accompanied by local compressive signs. Histologically, we identified six cases (55%) of diffuse large B-cell lymphoma, three cases (27%) of extranodal marginal zone lymphoma, one case (9%) of follicular lymphoma, and one case (9%) of mixed follicular-diffuse lymphoma. PTL was associated with microscopic Hashimoto autoimmune thyroiditis in ten cases (90.9%). Ten patients (90.9%) presented with localized disease (stage I-IIE). A percentage of 60% of patients survived over 5 years. We observed an overall longer survival in patients under 70 years of age. Conclusions: PTL represents a diagnosis that needs to be taken into account, especially in women with a history of Hashimoto autoimmune thyroiditis, presenting a cervical tumor with progressive growth. PTL is a lymphoid neoplasia with favorable outcome, with relatively long survival if it is diagnosed at younger ages.

Introduction: Sclerosing Extramedullary Hematopoietic Tumor (SEHT) is a very rare lesion associated with chronic myeloproliferative disorders (CMPD). SEHT can mimic morphologically, both macroscopically and microscopically, a wide variety of tumors/lesions. Case presentation: We present the case of a female patient diagnosed with gallstones for which surgery was decided. Intraoperatively, a malignant tumor of extrahepatic bile ducts was suspected. A frozen section examination raised the suspicion of a mesenchymal tumor or an inflammatory pseudotumor. The histological evaluation of the permanent sections, supplemented with an immunohistochemical investigation (IHC), was the one that established the diagnosis of SEHT, based on the presence of areas of sclerosis, atypical CD31+ megakaryocytes, myeloid and erythroid elements. Conclusions: The authors present the difficulties of a morphological diagnosis on the frozen section and on permanent sections in the absence of relevant clinical information and make a review of the literature data dedicated to the subject.

Objectives: To provide preliminary data on practice of stress perfusion cardiovascular magnetic resonance (CMR) in a single center in Romania. Methods: We retrospectively reviewed the clinical files and CMR reports of patients who underwent stress perfusion CMR in our institution between January 2018 and December 2020. Results: A total of 1036 patients underwent CMR examinations during this period in our institution. Of these, 120 patients had stress perfusion CMR. The most common indication was the assessment of myocardial ischaemia in patients with established coronary artery disease (CAD) (77 patients, 64.16%), with either a history of myocardial infarction or previous coronary revascularization, or with intermediate lesions on invasive coronary angiography (ICA). The other indications consisted in detection of ischaemia in patients with suspected CAD (36 patients, 30%), characterization of the substrate of ventricular arrhythmia (5 patients, 4.16%) and assessment of the etiology of dilated cardiomyopathy (DCM) (4 patients, 3.33%). All patients had vasodilator stress with adenosine and an adequate stress response was obtained in 113 patients (94.16%). There were 21 patients (18.58%) with an abnormal stress test and patients with intermediate lesions on ICA had the highest prevalence of positive reports (24.32%). Sixty-three patients had myocardial fibrosis (52.5%): 49 patients (40.83%) had subendocardial (ischaemic) scars, while 14 patients (11.66%) had non-ischaemic scars. There were no serious adverse events related to the procedure. Conclusions: This is the first report in Romania on the use of stress perfusion CMR in clinical practice. We report our experience on stress efficiency, acquisition protocol, artifacts, prevalence of positive tests and safety. Most stress CMRs were requested in patients with established CAD.