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Cells Jun 2024Calcium plays central roles in numerous biological processes, thereby, its levels in the blood are under strict control to maintain homeostatic balance and enable the... (Review)
Review
Calcium plays central roles in numerous biological processes, thereby, its levels in the blood are under strict control to maintain homeostatic balance and enable the proper functioning of living organisms. The regulatory mechanisms ensuring this balance can be affected by pathologies such as cancer, and as a result, hyper- or hypocalcemia can occur. These states, characterized by elevated or decreased calcium blood levels, respectively, have a significant effect on general homeostasis. This article focuses on a particular form of calcium metabolism disorder, which is hypercalcemia in neoplasms. It also constitutes a summary of the current knowledge regarding the diagnosis of hypercalcemia and its management. Hypercalcemia of malignancy is estimated to affect over 40% of cancer patients and can be associated with both solid and blood cancers. Elevated calcium levels can be an indicator of developing cancer. The main mechanism of hypercalcemia development in tumors appears to be excessive production of parathyroid hormone-related peptides. Among the known treatment methods, bisphosphonates, calcitonin, steroids, and denosumab should be mentioned, but ongoing research promotes progress in pharmacotherapy. Given the rising global cancer prevalence, the problem of hypercalcemia is of high importance and requires attention.
Topics: Humans; Hypercalcemia; Neoplasms; Calcium
PubMed: 38920679
DOI: 10.3390/cells13121051 -
Annals of the Academy of Medicine,... Apr 2024Significant progress has been made in the understand-ing of many human diseases, especially cancers, which has contributed to improved and increased survival. The Human... (Review)
Review
Significant progress has been made in the understand-ing of many human diseases, especially cancers, which has contributed to improved and increased survival. The Human Genome Project and The Cancer Genome Atlas project brought about a new era, with an understanding of inherited diseases at a molecular level, which subsequently facilitated the option of precision medicine. Precision medicine has helped tailor treatment decisions at an individual level, for instance in terms of surgical treatments or targeted therapies in advanced diseases. Despite the increasing advances in genetic-lead precision medicine, this has not translated into increasing uptake among patients. Reasons for this may be potential knowledge gaps among clinicians; on reasons for poor uptake of genetic testing such as for cultural, religious or personal beliefs; and on financial implications such as lack of support from insurance companies. In this review, we look at the current scenario of genetic screening for common inherited endocrine conditions affecting the thyroid, parathyroid and adrenal glands in Singapore, and the implications associated with it.
Topics: Humans; Singapore; Genetic Testing; Thyroid Diseases; Endocrine System Diseases; Parathyroid Diseases; Adrenal Gland Diseases; Precision Medicine
PubMed: 38920182
DOI: 10.47102/annals-acadmedsg.202368 -
Endocrine, Metabolic & Immune Disorders... Jun 2024Neuroendocrine tumors [NETs] exhibit a wide range of clinical presentations, including the production of various hormones. Calcitonin, a sensitive marker for medullary...
INTRODUCTION
Neuroendocrine tumors [NETs] exhibit a wide range of clinical presentations, including the production of various hormones. Calcitonin, a sensitive marker for medullary thyroid cancer [MTC], is nonspecific and may be elevated in extra-thyroidal NETs.
CASE REPORT
We present the case of a 64-year-old female patient who underwent total thyroidectomy due to a nodule in the isthmus, with a fine-needle aspiration biopsy indicating follicular neoplasia. Pathological examination revealed macro- and micro-nodular thyroid hyperplasia, along with a parathyroid adenoma. During postoperative follow-up, a progressive elevation of calcitonin was observed, reaching 64.2 pg/ml, while carcinoembryonic antigen levels remained normal. Since no MTC foci were found upon reviewing the thyroidectomy specimen, an investigation into the origin of the elevated calcitonin was initiated. Serum chromogranin A and specific neuronal enolase levels were within normal ranges. Tc-99m HYNIC-TOC scintigraphy yielded negative results. Additionally, an upper gastrointestinal endoscopy revealed a submucosal lesion in the second portion of the duodenum, with a biopsy confirming a grade 1 NET. The patient underwent Whipple surgery and hepatic metastasectomy. Postoperatively, a decrease in baseline serum calcitonin levels was observed. Seven years after surgery, she continues specialized monitoring with no biochemical or imaging evidence of disease.
CONCLUSION
Serum calcitonin contributes to the diagnosis and monitoring of anterior intestine NETs.
PubMed: 38918999
DOI: 10.2174/0118715303309948240524054836 -
Journal of Neurodevelopmental Disorders Jun 2024Minor physical anomalies (MPAs) are congenital morphological abnormalities linked to disruptions of fetal development. MPAs are common in 22q11.2 deletion syndrome...
BACKGROUND
Minor physical anomalies (MPAs) are congenital morphological abnormalities linked to disruptions of fetal development. MPAs are common in 22q11.2 deletion syndrome (22q11DS) and psychosis spectrum disorders (PS) and likely represent a disruption of early embryologic development that may help identify overlapping mechanisms linked to psychosis in these disorders.
METHODS
Here, 2D digital photographs were collected from 22q11DS (n = 150), PS (n = 55), and typically developing (TD; n = 93) individuals. Photographs were analyzed using two computer-vision techniques: (1) DeepGestalt algorithm (Face2Gene (F2G)) technology to identify the presence of genetically mediated facial disorders, and (2) Emotrics-a semi-automated machine learning technique that localizes and measures facial features.
RESULTS
F2G reliably identified patients with 22q11DS; faces of PS patients were matched to several genetic conditions including FragileX and 22q11DS. PCA-derived factor loadings of all F2G scores indicated unique and overlapping facial patterns that were related to both 22q11DS and PS. Regional facial measurements of the eyes and nose were smaller in 22q11DS as compared to TD, while PS showed intermediate measurements.
CONCLUSIONS
The extent to which craniofacial dysmorphology 22q11DS and PS overlapping and evident before the impairment or distress of sub-psychotic symptoms may allow us to identify at-risk youths more reliably and at an earlier stage of development.
Topics: Humans; DiGeorge Syndrome; Psychotic Disorders; Female; Male; Adolescent; Child; Craniofacial Abnormalities; Young Adult; Adult; Machine Learning; Image Processing, Computer-Assisted
PubMed: 38918700
DOI: 10.1186/s11689-024-09547-8 -
Current Opinion in Endocrinology,... Aug 2024
Topics: Humans; Parathyroid Diseases; Bone Diseases
PubMed: 38916241
DOI: 10.1097/MED.0000000000000870 -
Journal of Maxillofacial and Oral... Jun 2024Primary hyperparathyroidism is an endocrine disorder occurring due to increased secretion of parathormone resulting in clinical, anatomical, and biochemical alterations....
Primary hyperparathyroidism is an endocrine disorder occurring due to increased secretion of parathormone resulting in clinical, anatomical, and biochemical alterations. On the other hand, excision of a parathyroid adenoma can normalize the metabolic status. Brown tumors represent the terminal stage of the remodeling processes during primary or secondary hyperparathyroidism. They are erosive bony lesions caused by rapid osteolysis and peritrabecular fibrosis, resulting in a local destructive phenomenon. Facial skeleton is involved in about 2% of all cases of which the mandible is frequently affected. We report a case series of four patients who presented with brown tumor of both maxilla and mandible. A complete assessment of the medical history, blood investigations and radiological findings combined with biopsy results is necessary for a correct diagnosis. The standard treatment of the Brown tumors is not a surgical resection, but the treatment of the cause of the tumor, which in this case is hyperparathyroidism. However in our case, the extent of the lesion and the non resolution after the parathyroidectomy necessitated a surgical approach in two of our patients however two responded well to medical management alone.
PubMed: 38911413
DOI: 10.1007/s12663-024-02157-w -
Radiologia 2024Preoperative localization of parathyroid pathology, generally a parathyroid adenoma, can be difficult in some cases due to the anatomical variants that these glands... (Review)
Review
Preoperative localization of parathyroid pathology, generally a parathyroid adenoma, can be difficult in some cases due to the anatomical variants that these glands present. The objective of this review is to analyse the different imaging techniques used for preoperative localization of parathyroid pathology (scintigraphy, ultrasound, CT, MRI and PET). There is great variability between the different tests for the preoperative localization of parathyroid pathology. The importance of knowing the different diagnostic options lies in the need to choose the most suitable test at each moment and for each patient for an adequate management of primary hyperparathyroidism (PHP) with surgical criteria.
Topics: Humans; Parathyroid Neoplasms; Ultrasonography; Diagnostic Imaging; Hyperparathyroidism, Primary; Parathyroid Glands; Magnetic Resonance Imaging; Parathyroid Diseases
PubMed: 38908885
DOI: 10.1016/j.rxeng.2023.04.006 -
Medicina 2024Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant inherited disease with an estimated prevalence of 2-10:100 000. The main locations of tumors are...
INTRODUCTION
Multiple Endocrine Neoplasia type 1 (MEN1) is an autosomal dominant inherited disease with an estimated prevalence of 2-10:100 000. The main locations of tumors are parathyroid glands (HPT), gastroenteropancreatic tract (GEPT), and anterior pituitary gland (PT). The aim of our investigation was to describe the phenotype and genotype of Argentinian patients with MEN1.
METHODS
A total of 68 index patients diagnosed with at least two of the three main tumors or one tumor and a relative with MEN1, and 84 first-degree relatives were studied. We sequenced the coding region (exons 2-10); the promoter, exon 1; and the flanking intronic regions of the MEN1 gene, following the Sanger method. We used MLPA in index patients without mutation.
RESULTS
Prevalence of tumors: HPT 87.5%, GEPT 49% (p< 0.001). No statistical differences in the prevalence of HPT vs. PT (68%). Prevalence of pathogenic variants: 90% in familial cases and 51% in sporadic cases. Of the different 36 pathogenic variants, 13 (36.2%) were frameshift micro-rearrangement, 8 (22.2%) were missense, 9 (25%) were nonsense, 3 (8.3%) were mutations in splicing sites, 2 (5.5%) were large deletions and, 1 in-frame micro-rearrangement. We found 7 novel pathogenic variants. Thirty-nine percent (n = 33) of first-degree relatives of 23 families were found to be mutation carriers.
CONCLUSION
The phenotype and genotype of Argentinian patients was similar to other MEN1 populations. A high frequency of PT and the identification of seven novel mutations are underscored.
Topics: Humans; Argentina; Male; Multiple Endocrine Neoplasia Type 1; Phenotype; Female; Adult; Genotype; Middle Aged; Adolescent; Young Adult; Child; Aged; Mutation; Child, Preschool; Parathyroid Neoplasms; Proto-Oncogene Proteins
PubMed: 38907957
DOI: No ID Found -
Langenbeck's Archives of Surgery Jun 2024Over recent years, various advanced minimally invasive techniques have been developed for parathyroidectomy, and there was a universal acceptance of these less invasive... (Randomized Controlled Trial)
Randomized Controlled Trial Comparative Study
BACKGROUND
Over recent years, various advanced minimally invasive techniques have been developed for parathyroidectomy, and there was a universal acceptance of these less invasive procedures by surgeons. This study is designed to compare overall outcomes between endoscopic versus focused, single gland parathyroidectomy using intraoperative rapid parathyroid hormone (ioPTH) changes under general anesthesia in primary hyperparathyroidism (PHPT) patients.
METHOD
In this randomized clinical trial, 96 patients diagnosed with PHPT were randomly assigned into two groups endoscopic and focused parathyroidectomy. Baseline clinical and demographical data were collected along with perioperative features. The success rate was evaluated based on ioPTH changes.
RESULTS
The ioPTH levels after five minutes in the endoscopic group were significantly lower than the focused group (P = 0.005). The success rate for endoscopic and the focused method was 95.3% and 77.1% during the first five minutes (P = 0.013) and 100% in both groups after ten minutes. A decrease in parathyroid hormone levels was significant in each group but not between each other. Postoperative calcium levels were significantly lower in the focused method (P = 0.042). The focused group also had a significantly shorter operation time than the endoscopic group (P < 0.001). Patient satisfaction with cosmetic outcome was significantly higher in the endoscopic group compared to the focused group.
CONCLUSION
The endoscopic technique was superior to the unilateral focused neck exploration parathyroidectomy in the management of single-gland PHPT. Influencing aspects included higher postoperative calcium levels, more rapid success achievement, and satisfactory cosmetic outcomes in the endoscopic group. However, patient selection and accurate adenoma localization are vital in this method.
Topics: Humans; Parathyroidectomy; Hyperparathyroidism, Primary; Male; Female; Middle Aged; Endoscopy; Treatment Outcome; Adult; Parathyroid Hormone; Aged; Operative Time
PubMed: 38907761
DOI: 10.1007/s00423-024-03390-0 -
Medicine Jun 2024Fahr syndrome is a rare, degenerative neurological condition characterized by bilateral idiopathic calcification of the periventricular region, especially the basal...
RATIONALE
Fahr syndrome is a rare, degenerative neurological condition characterized by bilateral idiopathic calcification of the periventricular region, especially the basal ganglia. This condition is often misdiagnosed as other neurological or psychiatric disorders due to its rarity and overlapping symptoms.
PATIENT CONCERNS
A 34-year-old man had been experiencing seizures and cognitive dysfunction for few years, which were further compounded by slurred speech and motor difficulties as acute conditions.
DIAGNOSIS
After investigations, severe hypocalcemia, and hypoparathyroidism were detected and his brain computed tomography showed extensive bilateral calcifications in basal ganglia, thalamus, dentate nuclei, and some parts of subcortical white matter, suggestive of Fahr syndrome. Although, the patient was initially misdiagnosed due to a lack of information and the rarity of this disease.
INTERVENTION
The patient was treated with intravenous calcium gluconate, vitamin D3, l-ornithine l-aspartate syrup, and levetiracetam, replacing carbamazepine.
OUTCOME
His symptoms, including slurred speech, muscle pain, and stiffness improved, serum calcium normalized, and he was discharged with medications for memory deficit and depression.
LESSONS
This case underscores the importance of raising awareness among physicians, especially in areas with limited medical resources, about the significance of prompt diagnosis and appropriate symptomatic treatment in enhancing patient prognosis and quality of life.
Topics: Humans; Male; Adult; Seizures; Cognitive Dysfunction; Calcinosis; Afghanistan; Basal Ganglia Diseases; Hypoparathyroidism; Hypocalcemia; Tomography, X-Ray Computed; Neurodegenerative Diseases
PubMed: 38905413
DOI: 10.1097/MD.0000000000038542