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Cureus Mar 2024Sarcoidosis is a systemic inflammatory condition characterized by noncaseating granulomas. Lung involvement is typical, while extrapulmonary manifestations, notably...
Sarcoidosis is a systemic inflammatory condition characterized by noncaseating granulomas. Lung involvement is typical, while extrapulmonary manifestations, notably lymphadenopathy, are observed in a significant proportion of cases. The etiology involves complex interactions among immune cells and mediators, resulting in granuloma formation capable of independently producing 1,25-dihydroxyvitamin D, leading to unregulated hypercalcemia and hypercalciuria. Diagnosis can be challenging, especially when hypercalcemia is the initial symptom. The presence of noncaseating granulomas on biopsy is characteristic of sarcoidosis. We present a case of severe hypercalcemia in a 53-year-old woman, initially suggestive of primary hyperparathyroidism due to non-suppressed intact parathyroid hormone (PTH) levels and unilateral intrathyroidal tracer uptake on a technetium 99m sestamibi parathyroid scan. The patient presented with hypertension, acute kidney injury, and severe hypercalcemia. Initial assessment, including a parathyroid scan, hinted at primary hyperparathyroidism. However, further evaluation, including chest computed tomography (CT) and endobronchial biopsy, revealed sarcoidosis with noncaseating granulomas. Prednisone therapy led to normalization of serum calcium and creatinine levels. The case underscores the complexities in diagnosing sarcoidosis, especially when presenting with severe hypercalcemia. Despite non-suppressed PTH and suggestive imaging, the final diagnosis relied on endobronchial biopsy findings. The study highlights the limitations of conventional diagnostic markers, emphasizing the need for a comprehensive and individualized approach.
PubMed: 38623131
DOI: 10.7759/cureus.56271 -
Medical Science Monitor : International... Apr 2024BACKGROUND Primary hyperparathyroidism is one of the most common endocrine disorders, for which the definitive treatment is surgical parathyroidectomy. Generally,...
Comparative Analysis of Transoral Endoscopic Parathyroidectomy Vestibular Approach and Focused Open Surgery for Primary Hyperparathyroidism Treatment: A Single Center Experience.
BACKGROUND Primary hyperparathyroidism is one of the most common endocrine disorders, for which the definitive treatment is surgical parathyroidectomy. Generally, surgical exploration is performed as open focused neck surgery. The vestibular route is a new approach to minimally invasive endoscopic parathyroidectomy. This retrospective study from a single center in Turkey aimed to compare surgical outcomes from the transoral endoscopic vestibular approach (TOEPVA) vs direct open parathyroidectomy in 57 patients. MATERIAL AND METHODS Our study included data from 57 patients. TOEPVA was performed in 20 of these patients who did not want a cervical scar, and focused surgery was performed in the remaining 37 patients. The variables we analyzed were size, volume, and localization of the adenoma, operative time, presence of bleeding, presence of the recurrent laryngeal nerve damage, preoperative, short-term, and long-term postoperative PTH levels, use of drain, presence of postoperative hypocalcemia, and short-term and long-term calcium levels. RESULTS No laryngeal nerve and mental nerve damage was observed in either group. The mean operative time in focused open surgery was 80.54±33.1 min, while the mean operative time in TOEPVA was 128.21±30.88 (p: 0.794) min. The mean hospitalization period of patients who underwent open surgery was 3.29±1.9 days, while the mean discharge days of patients who underwent endoscopic surgery was 2.40±1.2. (p>0.05). CONCLUSIONS TOEPVA is a safe method in patients who underwent parthyroid surgery to avoid cervical scarring.
Topics: Humans; Parathyroidectomy; Hyperparathyroidism, Primary; Retrospective Studies; Parathyroid Neoplasms; Endoscopy; Minimally Invasive Surgical Procedures
PubMed: 38622842
DOI: 10.12659/MSM.944128 -
Updates in Surgery Jun 2024A task force of the United Italian society of Endocrine Surgery (SIUEC) was commissioned to review the position statement on diagnostic, therapeutic and health‑care... (Review)
Review
A task force of the United Italian society of Endocrine Surgery (SIUEC) was commissioned to review the position statement on diagnostic, therapeutic and health‑care management protocol in parathyroid surgery published in 2014, at the light of new technologies, recent oncological concepts, and tailored approaches. The objective of this publication was to support surgeons with modern rational protocols of treatment that can be shared by health-care professionals, taking into account important clinical, healthcare and therapeutic aspects, as well as potential sequelae and complications. The task force consists of 12 members of the SIUEC highly trained and experienced in thyroid and parathyroid surgery. The main topics concern diagnostic test and localization studies, mode of admission and waiting time, therapeutic pathway (patient preparation for surgery, surgical treatment, postoperative management, management of major complications), hospital discharge and patient information, outpatient care and follow-up, outpatient initial management of patients with pHPT.
Topics: Humans; Hyperparathyroidism, Primary; Italy; Parathyroidectomy; Societies, Medical; Postoperative Complications
PubMed: 38622315
DOI: 10.1007/s13304-024-01796-5 -
Journal of the Korean Society of... Mar 2024Parathyroid glands are small endocrine glands that regulate calcium metabolism by producing parathyroid hormone (PTH). These are located at the back of the thyroid... (Review)
Review
Parathyroid glands are small endocrine glands that regulate calcium metabolism by producing parathyroid hormone (PTH). These are located at the back of the thyroid gland. Typically, four glands comprise the parathyroid glands, although their numbers may vary among individuals. Parathyroid diseases are related to parathyroid gland dysfunction and can be caused by problems with the parathyroid gland itself or abnormal serum calcium levels arising from renal disease. In recent years, as comprehensive health checkups have become more common, abnormal serum calcium levels are often found incidentally in blood tests, after which several additional tests, including a PTH test, ultrasonography (US), technetium-99m sestamibi parathyroid scan, single-photon-emission CT (SPECT)/CT, four-dimensional CT (4D-CT), and PET/CT, are performed for further evaluation. However, the parathyroid gland remains an organ less familiar to radiologists. Therefore, the normal anatomy, pathophysiology, imaging, and clinical findings of the parathyroid gland and its associated diseases are discussed here.
PubMed: 38617871
DOI: 10.3348/jksr.2022.0171 -
International Journal of Molecular... Apr 2024Many genomic, anatomical and functional differences exist between the medullary (MTAL) and the cortical thick ascending limb of the loop of Henle (CTAL), including a...
Many genomic, anatomical and functional differences exist between the medullary (MTAL) and the cortical thick ascending limb of the loop of Henle (CTAL), including a higher expression of claudin-10 (CLDN10) in the MTAL than in the CTAL. Therefore, we assessed to what extent the gene expression is a determinant of differential gene expression between MTAL and CTAL. RNAs extracted from CTAL and MTAL microdissected from wild type (WT) and Cldn10 knock out mice (cKO) were analyzed by RNAseq. Differential and enrichment analyses (GSEA) were performed with interactive R Shiny software. Between WT and cKO MTAL, 637 genes were differentially expressed, whereas only 76 were differentially expressed between WT and cKO CTAL. Gene expression patterns and GSEA analyses in all replicates showed that WT MTAL did not cluster with the other replicates; no hierarchical clustering could be found between WT CTAL, cKO CTAL and cKO MTAL. Compared to WT replicates, cKO replicates were enriched in , , , (parathyroid hormone receptor type 1), (calcium sensing receptor) and (Vitamin D Receptor) mRNA in both the cortex and medulla. is associated with gene expression patterns, including genes specifically involved in divalent cations reabsorption in the TAL.
Topics: Animals; Mice; Extremities; Adrenal Medulla; Claudins; Mice, Knockout; Gene Expression
PubMed: 38612818
DOI: 10.3390/ijms25074008 -
American Journal of Human Genetics May 2024Changes in gene regulatory elements play critical roles in human phenotypic divergence. However, identifying the base-pair changes responsible for the distinctive...
Changes in gene regulatory elements play critical roles in human phenotypic divergence. However, identifying the base-pair changes responsible for the distinctive morphology of Homo sapiens remains challenging. Here, we report a noncoding single-nucleotide polymorphism (SNP), rs41298798, as a potential causal variant contributing to the morphology of the skull base and vertebral structures found in Homo sapiens. Screening for differentially regulated genes between Homo sapiens and extinct relatives revealed 13 candidate genes associated with basicranial development, with TBX1, implicated in DiGeorge syndrome, playing a pivotal role. Epigenetic markers and in silico analyses prioritized rs41298798 within a TBX1 intron for functional validation. CRISPR editing revealed that the 41-base-pair region surrounding rs41298798 modulates gene expression at 22q11.21. The derived allele of rs41298798 acts as an allele-specific enhancer mediated by E2F1, resulting in increased TBX1 expression levels compared to the ancestral allele. Tbx1-knockout mice exhibited skull base and vertebral abnormalities similar to those seen in DiGeorge syndrome. Phenotypic differences associated with TBX1 deficiency are observed between Homo sapiens and Neanderthals (Homo neanderthalensis). In conclusion, the regulatory divergence of TBX1 contributes to the formation of skull base and vertebral structures found in Homo sapiens.
Topics: T-Box Domain Proteins; Humans; Animals; Mice; Polymorphism, Single Nucleotide; DiGeorge Syndrome; Neanderthals; Mice, Knockout; Skull; Alleles; Spine; Chromosomes, Human, Pair 22; Phenotype
PubMed: 38608674
DOI: 10.1016/j.ajhg.2024.03.012 -
Medicine Apr 2024Although parathyroid fine-needle aspiration (P-FNA) with parathyroid hormone (PTH) washout is effective in detecting preoperative parathyroid lesions, it also presents...
Although parathyroid fine-needle aspiration (P-FNA) with parathyroid hormone (PTH) washout is effective in detecting preoperative parathyroid lesions, it also presents risks such as fibrosis, hematoma, and, in rare cases, tumor seeding. This study aimed to investigate whether P-FNA with PTH washout leads to the seeding of parathyroid cells along the path of the needle. A retrospective analysis was conducted on patients undergoing minimally invasive parathyroidectomy guided by preoperative PTH washout. Permanent pathology reports, imaging data, and postoperative serum parathyroid hormone and calcium levels were assessed to determine the effectiveness and safety of the procedure. Complications following P-FNA with PTH washout were also reviewed using data from the patient registration system of Bulent Ecevit University. The procedure accurately localized parathyroid adenomas in 87 patients who underwent ultrasound-guided parathyroidectomy following preoperative P-FNA and PTH washout. Postoperatively, 75 patients showed normal parathyroid hormone and calcium levels. Two patients required secondary surgery for contralateral adenomas. Critically, there was no evidence of P-FNA with PTH washout-induced parathyromatosis or seeding during the follow-up. Effective adenoma localization is crucial for successful minimally invasive surgery of hyperparathyroidism. Our study indicates that combining preoperative P-FNAB with PTH washout and imaging enhances adenoma detection, especially when intraoperative PTH measurements are not available, thus improving surgical outcomes. Notably, we found no evidence of cell implantation after P-FNA, suggesting the safety and efficacy of this method for preventing parathyroid cell seeding.
Topics: Humans; Adenoma; Biopsy, Fine-Needle; Calcium; Hyperparathyroidism, Primary; Parathyroid Hormone; Retrospective Studies
PubMed: 38608096
DOI: 10.1097/MD.0000000000037754 -
Cureus Mar 2024Introduction β-Thalassemia is a common inherited disease in the northern part of Iraq. A considerable number of transfusion-dependent (TDT) and...
Introduction β-Thalassemia is a common inherited disease in the northern part of Iraq. A considerable number of transfusion-dependent (TDT) and non-transfusion-dependent (NTDT) β-thalassemia patients suffer bone problems. The objective of this study was to evaluate the degree of bone disease in the TDT and NTDT patients using a dual-energy X-ray absorptiometry (DEXA) scan. Patients and methods In this study, 53 TDT and 20 NTDT patients aged ≥10 years were enrolled. Their bone status was assessed using the DEXA scan at the lumbar spine (L1-L4) and femoral neck. The effect of physical, biochemical, and hormonal characteristics on the bone mineral density (BMD) parameters was evaluated. The value of the BMD Z-score was the measure to decide on the magnitude of bone disease. Results and discussion The mean age of the enrolled patients was 24.1 years. The BMD Z-score values were significantly lower among the TDT patients at the lumbar spine and femoral neck (BMD Z-score: -2.05 and -1.51 versus -2.29 and -0.71; p=0.044 and 0.009, respectively). The proportion of osteoporosis at the lumbar spine was significantly higher in the TDT group than in the NTDT group (69.8% versus 40%; p <0.001). The BMD Z-score correlated significantly with patient BMI and parathyroid hormone (PTH) level in both the TDT and NTDT groups. No correlation was found with age, hemoglobin (Hb), and serum levels of calcium, vitamin D, ferritin, phosphorus, and alkaline phosphatase (ALP). Conclusions Impaired bone density was encountered at high proportions in our thalassemia patients. TDT patients suffered more severe bone disease than NTDT patients.
PubMed: 38606231
DOI: 10.7759/cureus.56012 -
Journal of Clinical Medicine Mar 2024: Osteoporosis is common in hemodialysis (HD) patients, contributing to cardiovascular risks. Limited research exists on denosumab's efficacy in this group. Our study...
Effect of Denosumab on Bone Health, Vascular Calcification, and Health-Related Quality of Life in Hemodialysis Patients with Osteoporosis: A Prospective Observational Study.
: Osteoporosis is common in hemodialysis (HD) patients, contributing to cardiovascular risks. Limited research exists on denosumab's efficacy in this group. Our study explores denosumab's effects on bone turnover markers (BTMs) and vascular calcification in chronic kidney disease-mineral bone disorder (CKD-MBD) patients. : In a prospective single-center study, we investigated the effects of denosumab over 2 years on 30 HD patients from a cohort of 185. Annual assessments of bone mineral density (BMD), vascular calcification, and health-related quality of life (HRQL) were conducted and compared with an untreated group. Mineral and bone parameters were analyzed at specific intervals in the treatment group. : Denosumab notably raised femoral BMD in the initial year. Most bone turnover markers (BTMs) decreased, except for osteocalcin. Changes in T50 correlated with BTMs. Pre-denosumab supplementation of calcium and vitamin D helped manage mineral imbalances. Post denosumab, parathyroid hormone (PTH) levels increased initially, stabilizing after 3 months. No significant changes occurred in vascular calcification or HRQL. : Denosumab exhibited varying effects on BMD improvement, with a stronger impact in the first year that diminished in the second year. Early PTH monitoring was crucial, and extending the administrative period may enhance BMD outcomes compared to the general population.
PubMed: 38592300
DOI: 10.3390/jcm13051462 -
Journal of Cellular and Molecular... Apr 2024Secondary hyperparathyroidism has a significant impact on the overall well-being of the body. Capsiates, known for their antioxidant and metabolic properties, have...
Secondary hyperparathyroidism has a significant impact on the overall well-being of the body. Capsiates, known for their antioxidant and metabolic properties, have emerged as a promising alternative treatment for secondary hyperparathyroidism. This study aims to evaluate the effects and mechanisms of capsiates in the treatment of secondary hyperparathyroidism. To achieve our research objectives, we conducted a study on patients' serum and examined changes in metabolic markers using serum metabolomics. We induced secondary hyperparathyroidism in rat through dietary intervention and divided them into four groups. The first group, referred to as the Parathyroid Hormone (PTH) group, received a low-calcium and high-phosphate diet (0.2% calcium, 1.2% phosphorus). The second group served as the control group, receiving a standard phosphate and calcium diet (0.6% calcium, 0.6% phosphorus). The third group, called the capsiates group, consisted of rat from the control group treated with capsiates (intraperitoneal injection of 2 mg/kg capsiates for 2 weeks after 2 weeks of dietary intervention). The fourth group was the capsiates-treated PTH group. Subsequently, we conducted ribose nucleic acid (RNA) sequencing on parathyroid gland cells and evaluated serum thyroxine levels, oxidative stress, expression of proteins associated with vascular neogenesis, measurement of SOD, GSH and 3-nitrotyrosine, micro-CT and histological staining. The serum metabolomic data revealed a significant decrease in capsiate levels in the secondary hyperparathyroidism group. Administration of capsiates to PTH rat resulted in increased calcium levels compared to the PTH group. Additionally, the PTH + Capsiates group showed significantly lower levels of PTH and phosphate compared to the PTH group. The PTH group exhibited a notable increase in the quantity and size of mitochondria compared to the control group. Following capsiates administration to the PTH group, there was a significant reduction in the number of mitochondria and length of microvilli, but an increase in the size of mitochondria compared to the PTH group. Sequencing analysis revealed that vascular endothelial growth factor (VEGF) and Vascular Endothelial Growth Factor Receptor 1 (VEGFR1) play crucial roles in this process. Vascular-related variables and downstream signalling were significantly elevated in hyperthyroidism and were alleviated with capsaicin treatment. Finally, combining capsiates with the PTH group improved bone mineral density, Tb.N, BV.TV, Cs.Th, Tt.Ar, OPG, Ob.TV and Oc.TV, as well as the mineral apposition rate, but significantly decreased Tb.Sp and Receptor Activator for Nuclear Factor-κ B Ligand (RANKL) compared to the PTH group. The findings suggest that capsiates can improve secondary hyperparathyroidism and ameliorated osteoporosis outcomes by inhibiting angiogenesis and reducing oxidative stress.
Topics: Humans; Rats; Animals; Calcium; Capsaicin; Angiogenesis; Insulin Resistance; Vascular Endothelial Growth Factor A; Hyperparathyroidism, Secondary; Parathyroid Hormone; Phosphorus; Phosphates
PubMed: 38591872
DOI: 10.1111/jcmm.18202