Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 5.762
Filter
1.
J Biomed Opt ; 30(Suppl 1): S13702, 2025 Jan.
Article in English | MEDLINE | ID: mdl-39034960

ABSTRACT

Significance: Near-infrared autofluorescence (NIRAF) utilizes the natural autofluorescence of parathyroid glands (PGs) to improve their identification during thyroid surgeries, reducing the risk of inadvertent removal and subsequent complications such as hypoparathyroidism. This study evaluates NIRAF's effectiveness in real-world surgical settings, highlighting its potential to enhance surgical outcomes and patient safety. Aim: We evaluate the effectiveness of NIRAF in detecting PGs during thyroidectomy and central neck dissection and investigate autofluorescence characteristics in both fresh and paraffin-embedded tissues. Approach: We included 101 patients diagnosed with papillary thyroid cancer who underwent surgeries in 2022 and 2023. We assessed NIRAF's ability to locate PGs, confirmed via parathyroid hormone assays, and involved both junior and senior surgeons. We measured the accuracy, speed, and agreement levels of each method and analyzed autofluorescence persistence and variation over 10 years, alongside the expression of calcium-sensing receptor (CaSR) and vitamin D. Results: NIRAF demonstrated a sensitivity of 89.5% and a negative predictive value of 89.1%. However, its specificity and positive predictive value (PPV) were 61.2% and 62.3%, respectively, which are considered lower. The kappa statistic indicated moderate to substantial agreement (kappa = 0.478; P < 0.001 ). Senior surgeons achieved high specificity (86.2%) and PPV (85.3%), with substantial agreement (kappa = 0.847; P < 0.001 ). In contrast, junior surgeons displayed the lowest kappa statistic among the groups, indicating minimal agreement (kappa = 0.381; P < 0.001 ). Common errors in NIRAF included interference from brown fat and eschar. In addition, paraffin-embedded samples retained stable autofluorescence over 10 years, showing no significant correlation with CaSR and vitamin D levels. Conclusions: NIRAF is useful for PG identification in thyroid and neck surgeries, enhancing efficiency and reducing inadvertent PG removals. The stability of autofluorescence in paraffin samples suggests its long-term viability, with false positives providing insights for further improvements in NIRAF technology.


Subject(s)
Optical Imaging , Parathyroid Glands , Spectroscopy, Near-Infrared , Thyroidectomy , Humans , Parathyroid Glands/surgery , Parathyroid Glands/metabolism , Male , Female , Middle Aged , Optical Imaging/methods , Adult , Spectroscopy, Near-Infrared/methods , Paraffin Embedding/methods , Aged , Thyroid Cancer, Papillary/surgery , Thyroid Cancer, Papillary/pathology , Thyroid Cancer, Papillary/metabolism , Receptors, Calcium-Sensing/metabolism , Receptors, Calcium-Sensing/analysis
2.
Front Oncol ; 14: 1431561, 2024.
Article in English | MEDLINE | ID: mdl-39224805

ABSTRACT

Introduction: Primary hyperparathyroidism (PHPT) is a common endocrine disorder in which surgery is the only curative therapy. Ectopic parathyroid adenoma in the pyriform sinus resulting from a pathological migration of parathyroid glands along the embryological development is a rare cause of PHPT. We describe a case of a persistent primary hyperparathyroidism after previous unsuccessful surgery due to an ectopic parathyroid adenoma within the pyriform sinus and we review the previous reports on this issue. Case presentation: A 62-year-old woman was referred for persistent hypercalcemia following unsuccessful cervical exploratory surgery. Cervical ultrasound did not detect any parathyroid abnormalities. At variance, 99mTc-sestamibi SPECT/CT and CT scan of the neck identified a parathyroid adenoma in the left pyriform sinus, which was confirmed by endoscopy. The patient was successfully treated by transoral robotic resection and the pathology confirmed a parathyroid adenoma. Conclusions: The ectopic parathyroid adenoma in the pyriform sinus is so uncommon that only fourteen cases have been reported. However, the pyriform sinus should be considered a possible location of ectopic parathyroid glands, especially in the setting of persistent or recurrent PHPT after parathyroid surgery.

3.
Article in English | MEDLINE | ID: mdl-39227263

ABSTRACT

Regardless of species, calcium, vitamin D, and parathyroid hormone physiology are intricately linked. However, there are many unique differences between taxa that may affect husbandry recommendations, common disease processes, and effective treatment. This article aims to provide a basic overview of calcium metabolism and physiology then specifically delve into unique attributes of calcium homeostasis in common zoologic companion animal species.

4.
EFORT Open Rev ; 9(9): 845-861, 2024 Sep 02.
Article in English | MEDLINE | ID: mdl-39222329

ABSTRACT

Objective: The aim of the study was to evaluate the efficacy and safety of teriparatide compared to other treatments for postmenopausal osteoporosis. Methods: A review of studies from 2000 to January 2023 analyzed randomized controlled trials on postmenopausal women treated with teriparatide (PTH 1-34), comparing it to placebo or other osteoporosis treatments. The analysis focused on bone mineral density (BMD), bone turnover markers, and clinical outcomes, employing Review Manager 5.4.1 and the RoB 2 tool for bias assessment. Results: Our analysis of 23 randomized controlled trials (RCTs) found that PTH (134) treatment significantly increased lumbar spine BMD (mean difference (MD) = 0.02, 95% CI: 0.01-0.03) and femoral neck BMD (MD = 0.01, 95% CI: 0.00-0.01). However, there were no significant changes in total hip and radial bone BMD among the 3536 and 2046 participants, respectively. We also found that PTH (1-34) increased P1NP in a larger cohort (n = 1415) when compared to osteocalcin (n = 206). Although the risk of adverse events increased (relative risk (RR) = 1.65, 95% CI: 1.32-2.07), the incidence of fractures decreased significantly (RR = 0.57, 95% CI: 0.45-0.072), with no significant difference observed in mortality rates between treatment and control groups. Conclusion: Teriparatide improves lumbar spine and femoral neck BMD in postmenopausal women. Particularly notable is the novel finding regarding its effect on radius BMD, an area less explored in previous research. Despite an uptick in adverse events, the marked decrease in fracture incidence confirms its clinical utility for high-risk osteoporosis patients, highlighting the necessity for ongoing investigations into its full skeletal effects.

5.
Updates Surg ; 2024 Sep 08.
Article in English | MEDLINE | ID: mdl-39244695

ABSTRACT

Incidental parathyroidectomy (IP) is a complication seen at varying rates after thyroid surgery, and its relationship with postoperative hypocalcemia has not been clarified. In this study, our goal was to identify the frequency and risk factors for IP in a large patient cohort and assess its correlation with postoperative hypocalcemia. A total of 4052 patients who underwent thyroid surgery between 2008 and 2020 were reviewed retrospectively. The patients were divided into two groups, the IP and non-IP groups, and compared in terms of demographics, surgical procedures, pathological diagnosis, and specimen weight. The relationships between IP and hypocalcemia were also evaluated. There were 587 (14.5%) IPs out of 4052 cases. In these patients, mostly one gland was removed (84.6%), and 23.2% of these glands were intrathyroidal. The rate of transient hypocalcemia was 39.9%, and that of permanent hypocalcemia was 1.7%. Female gender, malignancy, lower preoperative thyroid volume, presence of central lymph node dissection, lower specimen weight, presence of autotransplantation and capsule invasion in malignant cases were determined to be risk factors for IP. After excluding hemithyroidectomy and autotransplantation, transient and permanent hypocalcemia were found to be significantly higher in cases with IP (p < 0.001). Multivariate analysis showed that female sex, no multinodular goiter, central dissection, and low thyroid volume were risk-adjusted independent variables. Our findings highlight the significant role of IP in postoperative hypocalcemia. Given that most IPs are located in the perithyroidal region, precise surgical dissection is vital to preserve parathyroid gland function and prevent IP and subsequent hypocalcemia.

6.
Rev Med Interne ; 2024 Sep 07.
Article in French | MEDLINE | ID: mdl-39245590

ABSTRACT

Primary hyperparathyroidism (PHPT) is the leading cause of hypercalcemia. It is secondary to hypersecretion of parathyroid hormone (PTH) by the parathyroid glands. Today, PHTP is asymptomatic in 80-90% of cases. Its repercussions are mainly renal (nephrolithiasis, nephrocalcinosis, decline in renal function) and skeletal (osteoporosis, fractures), and should be systematically investigated. Diagnosis is only biological, and in its classic form relies on the association of hypercalcemia, inappropriate PTH (normal or elevated) and hypercalciuria. Diagnosis of normocalcemic forms, where only PTH is elevated, requires elimination of secondary hyperparathyroidism and confirmation of elevated PTH on two consecutive samples, over a 3 to 6 months period. Imaging evaluation, which combines neck ultrasound with scintigraphy or 18F-choline PET/CT, is of interest only if surgery is indicated. Surgical management of the hyperfunctioning parathyroid gland(s) is the only curative treatment for HPTP. Medical management concerns patients for whom surgery is not indicated, who present a surgical contraindication or who refuse surgery. The diagnosis of HPTP warrants contact with an endocrinologist to ensure its management.

7.
BMC Endocr Disord ; 24(1): 179, 2024 Sep 06.
Article in English | MEDLINE | ID: mdl-39237970

ABSTRACT

OBJECTIVE: The prevalence of type 2 diabetes mellitus (T2DM) and bone metabolism disorders increase with age. Diabetic kidney disease (DKD) is one of the most serious microvascular complications of T2DM, and bone metabolism disorders are closely linked to the occurrence of DKD. The relationship between bone turnover markers(BTMs) and the kidney disease in elderly patients with T2DM remains unclear. Therefore, this study aims to investigate the association between common BTMs and DKD in a large sample of elderly patients. The goal is to provide a basis for early identification of high-risk individuals for DKD among elderly T2DM patients from a bone metabolism perspective. METHODS: In this cross-sectional study, BTMs were collected from a cohort of 2,051 hospitalized Chinese patients. The relationships between 25-hydroxyvitamin D (25-OH-D), ß-CrossLaps (ß-CTX), osteocalcin (OSTEOC), intact parathyroid hormone (iPTH), and total type I collagen N-terminal propeptide (TP1NP), and DKD, as well as urinary albumin-to-creatinine ratio (UACR) and estimated glomerular filtration rate (eGFR) were analyzed using regression analysis and restrictive cubic spline (RCS) curves. RESULTS: Higher 25-OH-D levels were independently linked to a lower incidence of DKD and decreased UACR. The RCS curves showed a linear association of 25-OH-D and DKD, approaching the L-shape. ß-CTX was independently and positively correlated with UACR. There is an independent positive correlation between OSTEOC and UACR and a negative correlation with eGFR. iPTH is independently and positively correlated with DKD incidence and UACR, and negatively correlated with eGFR. Additionally, the RCS curves showed a non-linear association of OSTEOC and iPTH and DKD, approaching the J-shape, and the point of inflection is 10.875 ng/L and 34.15 pg/mL respectively. There is an independent positive correlation between TP1NP and UACR incidence, and a negative correlation with eGFR. Risk estimates significantly increase with higher TP1NP levels in the RCS model. CONCLUSION: BTMs are closely associated with kidney disease in elderly patients with T2DM. These discoveries potentially assist clinicians in establishing more preventive measures and targeted treatment strategies for elderly patients with T2DM.


Subject(s)
Biomarkers , Bone Remodeling , Diabetes Mellitus, Type 2 , Diabetic Nephropathies , Humans , Cross-Sectional Studies , Diabetes Mellitus, Type 2/complications , Diabetes Mellitus, Type 2/metabolism , Male , Female , Aged , Biomarkers/blood , Diabetic Nephropathies/etiology , Diabetic Nephropathies/epidemiology , Vitamin D/blood , Vitamin D/analogs & derivatives , Parathyroid Hormone/blood , Glomerular Filtration Rate , Middle Aged , Peptide Fragments/blood , Osteocalcin/blood , Prognosis , China/epidemiology , Follow-Up Studies , Procollagen/blood , Aged, 80 and over
8.
Int Urol Nephrol ; 2024 Sep 02.
Article in English | MEDLINE | ID: mdl-39222240

ABSTRACT

PURPOSE: Parathyroid hormone (PTH) is merit as a risk factor for mortality in patients with chronic kidney disease in prevalent hemodialysis patients in a U shape. Most studies, however, do not focus on incident patients and those who died within the first 90 days of therapy. We evaluated PTH as a risk factor for mortality in a large cohort population in Brazil. METHODS: This is an observational cohort study that included 4317 adult patients who initiated hemodialysis between July 1st, 2012 and June 30, 2017. The main outcome was all-cause mortality. Fine-gray sub-distribution hazard models were used to evaluate survival in the presence of a competing event (kidney transplant). RESULTS: Median PTH levels of 252 (118, 479) pg/mL. There were 331 deaths during the first 90 days of therapy (6.7%), 430 in a 1-year follow-up (10.7%) and 1282 (32%) during the 5-year study period. Deaths according to PTH < 150, 150-600 and > 600 pg/mL corresponded to 38.1%, 33.0% and 28.5%, respectively (p < 0.001). In an adjusted model, patients who started dialysis with PTH < 150 pg/mL had a higher mortality risk within the first 90 days, but not in 1 year and 5 years after starting dialysis. Analyses in a subset of patients with a repeated PTH in 1 year (N = 1954) showed that although persistent PTH low levels (< 150 pg/mL) at 1 year were significantly associated with all-cause mortality, this result was not sustained after multiple adjustments. CONCLUSION: PTH < 150 pg/mL confers a high mortality risk in the first 90 days of dialysis. If this result reflects poor nutritional conditions, it deserves further investigations.

9.
J Cell Physiol ; : e31430, 2024 Sep 05.
Article in English | MEDLINE | ID: mdl-39238313

ABSTRACT

Abnormal mechanical loading is one of the major risk factors for articular cartilage degeneration. Engineered mesenchymal stromal cell (MSC)-derived cartilage holds great promise for cell-based cartilage repair. However, physiological loading protocols were shown to reduce matrix synthesis of MSC-derived neocartilage in vitro and the regulators of this undesired mechanoresponse remain poorly understood. Parathyroid hormone-related protein (PTHrP) is involved in cartilage development and can affect extracellular matrix (ECM) production during MSC chondrogenesis opposingly, depending on a continuous or transient exposure. PTHrP is induced by various mechanical cues in multiple tissues and species; but whether PTHrP is regulated in response to loading of human engineered neocartilage and may affect matrix synthesis in a positive or negative manner is unknown. The aim of this study was to investigate whether dynamic loading adjusts PTHrP-signaling in human MSC-derived neocartilage and whether it regulates matrix synthesis and other factors involved in the MSC mechanoresponse. Interestingly, MSC-derived chondrocytes significantly upregulated PTHrP mRNA (PTHLH) expression along with its second messenger cAMP in response to loading in our custom-built bioreactor. Exogenous PTHrP(1-34) induced the expression of known mechanoresponse genes (FOS, FOSB, BMP6) and significantly decreased glycosaminoglycan (GAG) and collagen synthesis similar to loading. The adenylate-cyclase inhibitor MDL-12,330A rescued the load-mediated decrease in GAG synthesis, indicating a direct involvement of cAMP-signaling in the reduction of ECM production. According to COL2A1-corrected hypertrophy-associated marker expression, load and PTHrP treatment shared the ability to reduce expression of MEF2C and PTH1R. In conclusion, the data demonstrate a significant mechanoinduction of PTHLH and a negative contribution of the PTHrP-cAMP signaling axis to GAG synthesis in MSC-derived chondrocytes after loading. To improve ECM synthesis and the mechanocompetence of load-exposed neocartilage, inhibition of PTHrP activity should be considered for MSC-based cartilage regeneration strategies.

10.
Am J Surg ; 237: 115941, 2024 Aug 30.
Article in English | MEDLINE | ID: mdl-39236377

ABSTRACT

BACKGROUND: Progress has been observed in the pathophysiology of calcium homeostasis, localization studies, and intraoperative adjuncts in parathyroid surgery. The aim of this study is to gain a comprehensive perspective on the research landscape of parathyroid surgery over time. METHODS: A search of the Web of Science Core Collection was conducted to identify publications on parathyroid surgery from 1985 to 2024. Keywords were manually curated, and their frequencies were calculated based on the publication year. RESULTS: Publications on secondary hyperparathyroidism have decreased in recent years, but those on calcimimetics, tertiary hyperparathyroidism, and parathyroid cancer have increased. Publications related to sestamibi scans have decreased, while research on four-dimensional computed tomography and positron emission tomography has increased. Research on fluorescence and ablation treatment has recently been on the rise. The citation count per publication was positively correlated with the number of contributing institutions. CONCLUSION: We provide an overview of contemporary research themes and emerging topics related to parathyroid surgery. The endocrine surgery community could benefit from more inter-institutional partnerships to foster scientific progress.

11.
Cureus ; 16(8): e66146, 2024 Aug.
Article in English | MEDLINE | ID: mdl-39233987

ABSTRACT

BACKGROUND: A defective synthesis of vitamin D contributes to alterations in calcium homeostasis due to chronic endocrinopathies, leading to metabolic bone diseases. This study aimed to ascertain the levels of calcium, vitamin D, and parathyroid hormone (PTH) in children with ß-thalassemia. METHODS: In this case-control study, 36 children with major ß-thalassemia receiving iron chelation therapy were included. For the control group, 36 cases matched for age and sex were selected. The packed cell volume (PCV) requirements varied among the thalassemic children, with an average PCV requirement of 78.57±49.07. The study was conducted for six months in the Department of Pediatrics at the Government Medical College, Nagpur, India. Serum PTH levels were determined by immunoassay, and serum vitamin D levels were assessed using electrochemiluminescence technique. Additional tests looked at liver function, serum ferritin, calcium, phosphorus, and complete blood count. The student's t-test, Mann-Whitney, and chi-square tests were used for statistical analysis. RESULT: In comparison to the control group (10.4±1.21 g/dL), the case group's mean hemoglobin level was considerably lower (5.62±1.9 g/dL) (p<0.001). The mean serum ferritin level in the cases was notably higher (3073±1262.24 ng/mL) compared to the control group's level (58.37±29.67 ng/mL) (p<0.001). A total of 80.6% of cases compared to 5.6% of controls had vitamin D deficiency, and 72.2% of cases compared to 2.8% of controls had PTH deficit, both of which showed statistically significant differences (p<0.001). Significant differences were observed between the case and control groups for the mean levels of total serum calcium (8.51±0.84 mg/dL), vitamin D (15.23±10.07 ng/mL), and PTH (14.66±19.86 pg/mL) (9.13±0.6 mg/dL, p=0.05; 34.94±9.57 ng/mL, p<0.001; 32.08±12.42 pg/mL, p<0.001; respectively). CONCLUSION: Growth failure may result from the markedly reduced serum calcium, vitamin D, and PTH levels in children with ß-thalassemia. The relevance of treatment approaches is highlighted by the possibility that these anomalies are caused by excessive iron and inadequate nutritional support.

12.
SAGE Open Med Case Rep ; 12: 2050313X241272624, 2024.
Article in English | MEDLINE | ID: mdl-39234001

ABSTRACT

Primary hyperparathyroidism (PHPT), an endocrine disorder most commonly caused by parathyroid adenoma (PTA), manifests with a diverse array of symptoms, reflecting the multisystem impact of parathyroid hormone: nephrolithiasis, peptic ulcer disease, psychiatric disorders, muscle weakness, constipation, polyuria, pancreatitis, myalgia, and arthralgia. Rarely do these PTA attain a significant size. PHPT is usually diagnosed through biochemical tests, and radiological imaging characterizes the adenoma. Serum 25-hydroxyvitamin D levels are useful in explaining the large adenoma size. Here, we report a rare case of a 60-year-old female from Morocco who presented with marked dyspnea due to a giant PTA.

13.
Cureus ; 16(7): e65901, 2024 Jul.
Article in English | MEDLINE | ID: mdl-39219874

ABSTRACT

BACKGROUND: Primary hyperparathyroidism is regarded as a common endocrine disorder that is biochemically identified and could be symptomatic or asymptomatic. A detailed history and a thorough evaluation with regular follow-ups are required until a definite diagnosis is made. The study aims to evaluate the characteristics of patients and the performance of a tertiary endocrine center in managing the disease in Basrah, Iraq. MATERIAL AND METHODS: A retrospective study was conducted at the Faiha Specialized Diabetes, Endocrine, and Metabolism Center in Basrah, southern Iraq, on 106 patients diagnosed with primary hyperparathyroidism between 2012 and 2023. The patients' general characteristics were assessed, and those who underwent parathyroidectomy were evaluated post-surgery, and the cure rate was determined. RESULTS: The mean age of presentation was 47.5 ± 14.6 years, with a median of 50 years. The highest occurrence is in the sixth decade. Females comprised 79 (75%) of the patients, and the female-to-male ratio was 3:1. Symptomatic patients were 84 (90%), 30 (70%) of the patients had nephrolithiasis, and 52 (68%) had osteoporosis. The cure rate was 15 (83%). CONCLUSION: In our single-center study, the frequency of primary hyperparathyroidism has increased with time. The disease's highest occurrence was seen in the sixth decade. Females were substantially higher than males. Most patients were symptomatic. The cure rate was 83%.

14.
Eur J Surg Oncol ; 50(11): 108648, 2024 Aug 28.
Article in English | MEDLINE | ID: mdl-39243694

ABSTRACT

BACKGROUND: Preserving parathyroid function during thyroidectomy is crucial, but remains challenging. Real-time near-infrared autofluorescence (NIRAF) aids surgeons in intraoperative parathyroid gland (PTG) identification. However, its role in detecting PTGs unintentionally removed during surgery is unclear. STUDY DESIGN: This prospective study included adult patients undergoing endoscopic thyroidectomy. Surgeons identified and documented PTGs visually. Excised specimens underwent visual inspection and NIRAF imaging (PDE-Neo II). All fluorescent tissues were dissected and pathologically evaluated (reference standard). One scanned image per lobe was chosen to quantify autofluorescence (AF) intensity. RESULTS: Overall, 95 patients underwent endoscopic thyroidectomies, with NIRAF imaging applied to 152 excised lobes. Of these, 19 lobes displayed a total of 23 spots with increased intensity. 175 specimens were sent for pathological evaluation, and 7 were confirmed to be parathyroid tissue. NIRAF demonstrated 100.0 % sensitivity and 90.5 % specificity for predicting parathyroid tissue, with 30.4 % positive predictive value, 100.0 % negative predictive value of and 90.9 % accuracy. Quantitatively normalized, the AF signal intensity was significantly higher in NIRAF-positive tissues than negative (4.3 vs 1.2 times, p < 0.0001). Additionally, the AF signal intensity in regions pathologically confirmed of parathyroid tissue was higher than non-parathyroid tissue (9.1 vs 2.1 times, p < 0.0001). CONCLUSION: This study suggests that NIRAF has high sensitivity and specificity for detecting inadvertently resected PTGs after endoscopic thyroidectomy, contributing to preservation efforts. However, NIRAF-positive tissues still require additional confirmation through multiple methods, emphasizing other examinations to verify that they are indeed parathyroid tissues. Further research is warranted to refine NIRAF imaging parameters.

15.
JCEM Case Rep ; 2(9): luae159, 2024 Sep.
Article in English | MEDLINE | ID: mdl-39238943

ABSTRACT

Diagnosing primary hyperparathyroidism in pregnancy is difficult due to pregnancy-related changes in parathyroid hormone (PTH); calcium; 1,25 vitamin D; and renal calcium excretion. Parathyroid hormone-related peptide (PTHrP) produced by the placenta adds additional complexity. Our case is the first to demonstrate an increased rate of PTH degradation within a pregnant individual who returned unexpectedly low PTH levels. We describe a 27-year-old female patient who presented at 25 weeks gestation with pancreatitis and hypercalcemia. Primary hyperparathyroidism was suspected but variable PTH results led to uncertainty and an assay error was considered. PTH samples were collected in both serum-separating tubes (SST) and EDTA tubes and compared to controls (5 nonpregnant and 5 pregnant individuals). Samples were retested every 2 hours for a period of 10 hours. A rapid decline in the measured PTH was noted in the index case, an observation which differed from controls. We postulated that internal and/or external factors influenced the PTH measurement obtained from our patient. From our observations, rapid PTH degradation in pregnancy, and individual variation in PTH stability and laboratory processes, can influence PTH results and impact on interpreting hypercalcemia in pregnancy.

16.
Intern Med ; 2024 Sep 04.
Article in English | MEDLINE | ID: mdl-39231677

ABSTRACT

Hypercalcemia is a significant complication in cancer patients, primarily caused by parathyroid hormone-related peptide (PTHrP) and, rarely, by parathyroid hormone (PTH) production from tumors. We report a case of severe hypercalcemia in a woman with uterine cancer who exhibited elevated PTH and PTHrP levels. Surgical intervention revealed dedifferentiated endometrial carcinoma. Postoperatively, PTH and PTHrP levels normalized but subsequently increased due to metastases. A molecular analysis confirmed the expression of the PTH gene and protein within the tumor, indicating ectopic PTH production. In diagnosing and treating cancers, it is necessary to consider not only PTHrP production but also ectopic PTH production.

17.
G Ital Nefrol ; 41(4)2024 Aug 26.
Article in Italian | MEDLINE | ID: mdl-39243411

ABSTRACT

Familial Hypocalciuria Hypercalcemia (FHH) is an inherited disease with autosomal dominant transmission characterized by the presence of usually mild-to-moderate hypercalcemia, hypophosphatemia, hypocalciuria, and normal or moderately increased PTH values. Generally, FFH is asymptomatic although symptoms related to elevated plasma calcium values such as asthenia, intense thirst, polyuria, polydipsia or confusional state may occur. Three types of FHH, which differ in the genetic alterations underlying the condition, are described. The majority of FHH cases are classified as type 1 (about 65 percent of cases), due to mutation in the gene for the calcium-sensitive receptor CASR, expressed on chromosome (Chr) 3q13.3-21, which encodes for a calcium-sensitive receptor G-protein-coupled protein of the plasma membrane. FHH types 2 and 3 are due to GNA11 and AP2S1 mutations, respectively, and other genes involved in the pathogenesis of the disease have likely yet to be identified. Rarely, familial hypocalciuric hypercalcemia may not recognize a genetic cause but be caused by autoantibodies directed against CASR. The frequency of the disease is not known and is estimated, probably by default, because of paucisymptomatic presentation of the disease, to be around 1:80000 cases. Recognition of FHH is especially important for differential diagnosis with primary hyperparathyroidism, which has a much higher incidence, about 1:1000 cases. This allows for the identification of patients at risk for chondrocalcinosis and/or pancreatitis. Clinical suspicion must be raised in cases of hypercalcaemia associated with hypocalciuria, and genetic analysis is fundamental in the differential diagnosis toward forms of primary hyperparathyroidism that might result in unnecessary surgical interventions. We describe a clinical case in which a novel inactivating mutation of CASR leading to FHH type 1 was found.


Subject(s)
Hypercalcemia , Receptors, Calcium-Sensing , Humans , Receptors, Calcium-Sensing/genetics , Hypercalcemia/genetics , Hypercalcemia/diagnosis , Hypercalcemia/congenital , Mutation , Male , Female
18.
BJA Educ ; 24(8): 270-276, 2024 Aug.
Article in English | MEDLINE | ID: mdl-39099753
19.
Ther Adv Med Oncol ; 16: 17588359241265222, 2024.
Article in English | MEDLINE | ID: mdl-39099848

ABSTRACT

Parathyroid carcinoma (PC) is extremely rare in children and adolescent. PC is more often sporadic, but also it could be associated with germline mutations. The clinical features of primary hyperparathyroidism (PHPT) are nonspecific in children and adolescent, which delays the diagnosis for years. This case of PC in a pediatric patient, caused by germline heterozygous pathogenic variant in exon 1 of the CDC73 gene (c.70 G > T, p. Glu24Ter) is the first to be reported in Russia. Due to the rarity of pediatric parathyroid malignancy, the diagnosis of this endocrine neoplasm remains a challenge. The main difficulties that we faced in the management of the patient were the morphological confirmation of diagnosis, multiple surgical interventions, and disseminated PC metastases. We describe a 13-year-old girl with delayed diagnosis of PC and subsequent local recurrence after several surgeries, who underwent specific radiation therapy that allowed controlling hypercalcemia.

20.
Head Neck ; 2024 Aug 05.
Article in English | MEDLINE | ID: mdl-39104194

ABSTRACT

BACKGROUND: Hypocalcemia is the most common postoperative complication of total thyroidectomy. Near-infrared autofluorescence (NIRAF) technology is a surgical adjunct that has been increasingly utilized with the aim of preventing postoperative hypocalcemia, but its clinical benefits have not yet been firmly established. The aim of this study was to assess the clinical benefit of utilizing NIRAF technology in patients undergoing total thyroidectomy. METHODS: A systematic review and meta-analysis of randomized clinical trials was performed according to PRISMA guidelines. RESULTS: Seven randomized clinical trials with 1437 patients (318 males, 22.13%) undergoing total thyroidectomy were included for analysis. Risk of postoperative hypocalcemia was reduced in the NIRAF arm (RR, 0.65; 95%CI, 0.50-0.84). Use of NIRAF was also associated with a reduction in the risk of permanent parathyroid dysfunction (RR, 0.46; 95%CI, 0.22-0.95) and inadvertent parathyroid gland resection (RR, 0.40; 95%CI, 0.26-0.60). CONCLUSIONS: We present a systematic review and meta-analysis of randomized clinical trials examining the impact of NIRAF technology on preservation of parathyroid function. Our results suggest that use of camera-based NIRAF technology reduces the risk of postoperative hypocalcemia, permanent parathyroid dysfunction, and inadvertent parathyroid gland resection.

SELECTION OF CITATIONS
SEARCH DETAIL