keyword
https://read.qxmd.com/read/38655381/recombinant-pth-infusion-in-a-child-with-sanjad-sakati-syndrome-refractory-to-conventional-therapy
#1
Ibrahim Bali, Reem Al Khalifah
Hypoparathyroidism is the most common endocrinological feature in children with Sanjad-Sakati syndrome. Treatment includes active vitamin D and calcium supplementation. Here, we report a case of a newborn with Sanjad-Sakati syndrome who had severe hypocalcemia since birth who responded to PTH subcutaneous pump infusion. The child was born at 35 weeks with hypocalcemia since the first day of life. The standard medical treatment proved ineffective for the newborn, necessitating the administration of unusually high doses of oral and IV calcium and vitamin D analogue for a 2 months...
April 2024: JCEM Case Rep
https://read.qxmd.com/read/38650994/case-report-rapid-and-progressive-left-ventricular-endocardial-calcification-in-an-infant-with-williams-syndrome
#2
Jie Zhou, Dan Liu, Jiao Chen
Williams syndrome (WS) is characterized by a range of clinical features, including cardiovascular disease, distinctive facial traits, neurobehavioral disorders, and a condition known as transient infantile hypercalcemia. Among these, endocardial calcification represents a non-specific response to severe, etiologically diverse myocardial injuries. In this report, we document a unique case involving an infant with WS who exhibited rapidly progressive arterial stenosis and left ventricular endocardial calcification, associated with a novel heterozygous deletion...
2024: Frontiers in Pediatrics
https://read.qxmd.com/read/38650780/a-surgical-management-of-mediastinal-parathyroid-adenoma-a-regional-experience-in-malaysia
#3
Yen Zhir Tay, Narendran Balasubbiah, Raflis Ruzairee Awang, Benedict Dharmaraj Retna Pandian, Narasimman Sathiamurthy
Primary hyperparathyroidism (PHPT) usually presents with symptoms of hypercalcemia which is due to excessive secretion of parathyroid hormone (PTH). Surgical removal of the secreting tumor either adenoma or hyperplasia remains the mainstay of treatment. Around 2% to 25% of the lesions are located in the mediastinum. We reviewed our institution's surgical treatment and approach to mediastinal parathyroid adenoma (MPA). We retrospectively reviewed the demography, comorbidities, clinical presentation, surgical approach, and outcome for patients in our institution who underwent surgery for MPA from September 2019 until August 2023...
March 2024: Curēus
https://read.qxmd.com/read/38638771/gestational-ectopic-hyperparathyroidism-a-case-report-of-perioperative-and-perinatal-outcomes
#4
Kimitaka Shibue, Nozomi Kubo, Hiromi Oda, Etsuko Tanabe, Tsutomu Okada, Cheng-Long Huang, Toshihiro Higuchi, Akihiro Hamasaki, Nobuya Inagaki
In the realm of obstetric care, discerning the subtle signs of primary hyperparathyroidism (PHPT) amidst common pregnancy symptoms remains a formidable challenge. Our exploration into a case of gestational hypercalcemia peels back the layers of this complexity, revealing the clinical conundrum posed by overlapping gastrointestinal manifestations. The journey from diagnosis through surgical intervention to the resolution of symptoms underscores the importance of vigilance for PHPT in pregnant patients. This case further prompts consideration of gamma-aminobutyric acid (GABA) as a potential piece in the puzzle of persistent symptoms post-calcium normalization, inviting a broader dialogue on the intricacies of parathyroid pathology in pregnancy...
March 2024: Curēus
https://read.qxmd.com/read/38635114/familial-states-of-primary-hyperparathyroidism-an-update
#5
REVIEW
F Cetani, E Dinoi, L Pierotti, E Pardi
BACKGROUND: Familial primary hyperparathyroidism (PHPT) includes syndromic and non-syndromic disorders. The former are characterized by the occurrence of PHPT in association with extra-parathyroid manifestations and includes multiple endocrine neoplasia (MEN) types 1, 2, and 4 syndromes, and hyperparathyroidism-jaw tumor (HPT-JT). The latter consists of familial hypocalciuric hypercalcemia (FHH) types 1, 2 and 3, neonatal severe primary hyperparathyroidism (NSHPT), and familial isolated primary hyperparathyroidism (FIHP)...
April 18, 2024: Journal of Endocrinological Investigation
https://read.qxmd.com/read/38629364/sema3a-inhibits-osteolytic-bone-metastasis-of-non-small-cell-lung-cancer
#6
JOURNAL ARTICLE
Wei Wang, Kaicheng Shen, Ruyan Liu, Qi Zhou
BACKGROUND: Osteolytic bone metastasis is a common complication of Non-Small Cell Lung Cancer (NSCLC), resulting in bone pain, hypercalcemia, and fractures that severely reduce the quality of life and survival time of patients. Semaphorins 3A (Sema3A) is one of the isoforms of the Semaphorins family, which is important in a variety of physiological and pathological processes, such as angiogenesis, immune regulation, and tumorigenesis. However, the role of Sema3A in the development of osteolytic bone metastasis in NSCLC is unknown...
April 15, 2024: Recent Patents on Anti-cancer Drug Discovery
https://read.qxmd.com/read/38628858/a-case-report-of-mediastinal-parathyroid-carcinoma-in-a-chronic-kidney-disease-patient-addressing-management-conundrum
#7
Chukwunonso Ezeani, Gift Echefu, Ifeoluwa Stowe, Damodar Kumbala, Shatha Murad
Parathyroid carcinoma is a rare malignancy; and it is rarer to find one located in an ectopic location. Ectopic parathyroid glands are a reported cause of failed primary surgery for hyperparathyroidism. We report here a 73-year-old male who previously had parathyroidectomy for primary hyperparathyroidism but then had recurrence of his symptoms with a diagnosis of a mediastinal parathyroid carcinoma on further evaluation. This presentation of complicated mediastinal parathyroid carcinoma posed significant diagnostic and management challenges due to comorbid stage IV chronic kidney disease (CKD)...
2024: SAGE Open Medical Case Reports
https://read.qxmd.com/read/38628656/deep-lymph-node-enlargement-and-renal-failure-caused-by-hypercalcemia%C3%A2-associated-sarcoidosis-a-case-report
#8
Zezhou Liu, Zhigang Tang, Jingping Yuan, Ke Su, Yonghong Jian, Hongyan Liu
Sarcoidosis is a rare disease that severely affects the lungs and superficial lymph nodes. In addition, this disease can also affect the skin, eyes and kidneys to varying degrees. The present report described a 32-year-old male patient who was admitted to Renmin Hospital of Wuhan University (Wuhan, China) due to joint pain in the extremities. He was diagnosed with uncorrectable hypercalcemia. A lymph node biopsy revealed the hypercalcemia to be associated with sarcoidosis, with the patient also demonstrating renal failure and lymph node enlargement...
May 2024: Experimental and Therapeutic Medicine
https://read.qxmd.com/read/38628608/imaging-features-and-surgical-management-of-giant-parathyroid-adenoma-with-autoinfarction
#9
Tapan Patel, Rachelle Wolk, Nicole A Cipriani, Elizabeth Blair, Daniel Thomas Ginat
Autoinfarction of a parathyroid adenoma can have an atypical clinicoradiologic features that can mimic an inflammatory process or malignancy. In addition, the associated fibrosis makes surgical resection more challenging than for regular parathyroid adenomas. The implications of these findings are that while autoinfarction of parathyroid adenomas is a rare phenomenon, this entity should be considered when there are heterogeneous and cystic components on imaging in patients without hypercalcemia. Ultimately, histopathology is necessary for definitive diagnosis...
2024: Journal of Clinical Imaging Science
https://read.qxmd.com/read/38623131/calcium-chaos-in-sarcoidosis-a-tale-of-severe-hypercalcemia-s-diagnostic-challenge
#10
Mansi Satasia, Archit Garg, Kulani Weerasinghe, Chirag Patel, Mario Caldararo
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...
March 2024: Curēus
https://read.qxmd.com/read/38618395/primary-hyperparathyroidism-with-brown-tumor-of-the-mandible-misdiagnosed-as-a-giant-cell-tumor-a-case-report
#11
Asmara Hussain, Fatima Shahid, Nur Ul Ain
In this case study, we present an incidentally discovered giant cell granuloma, which, upon detailed investigation, led to an unexpected diagnosis. A 36-year-old woman exhibited a bone lesion in the right retromolar trigone area, initially suspected of being malignant. However, histopathological examination revealed a giant cell tumor of bone. Further biochemical profiling, including serum calcium, phosphorus, and parathyroid hormone (PTH) levels, showed elevated PTH and hypercalcemia, prompting consideration of primary hyperparathyroidism and the diagnosis of a brown tumor due to this condition...
March 2024: Curēus
https://read.qxmd.com/read/38615411/design-synthesis-and-biological-activity-of-d-bishomo-1%C3%AE-25-dihydroxyvitamin-d-3-analogs-and-their-crystal-structures-with-the-vitamin-d-nuclear-receptor
#12
JOURNAL ARTICLE
Adrian Fabisiak, Pawel Brzeminski, Rafal R Sicinski, Natacha Rochel, Ewa Maj, Beata Filip-Psurska, Joanna Wietrzyk, Lori A Plum, Hector F DeLuca
The biologically active metabolite of vitamin D3 - calcitriol - is a hormone involved in the regulation of calcium-phosphate homeostasis, immunological processes and cell differentiation, being therefore essential for the proper functioning of the human body. This suggests many applications of this steroid in the treatment of diseases such as rickets, psoriasis and some cancers. Unfortunately, using therapeutic doses of calcitriol is associated with high concentrations of this compound which causes hypercalcemia...
April 10, 2024: European Journal of Medicinal Chemistry
https://read.qxmd.com/read/38610061/discrepancies-in-corrected-calcium-versus-ionised-calcium-in-a-geriatric-population-an-observational-study
#13
JOURNAL ARTICLE
Alexandra P S P Suryapranata, Carolina J P W Keijsers, Steef Kurstjens, Astrid M Van Strien
BACKGROUND: Calcium can be measured as ionised (Ca-ionised) or albumin-adjusted total calcium (Ca-albumin). Current clinical guidelines predominantly utilise Ca-albumin, despite Ca-ionised being the gold standard. Discrepancies can occur between these measurement modalities and can lead to clinical dilemmas. It remains unclear how large these discrepancies are in older patients. This study investigated the discrepancies between Ca-ionised and Ca-albumin in geriatric patients. METHODS: This is an observational study of all geriatric patients (n = 876) in the Jeroen Bosch Hospital (January 2018 and January 2021) in whom both Ca-ionised and Ca-albumin were measured...
April 1, 2024: Age and Ageing
https://read.qxmd.com/read/38608656/clinical-examination-findings-and-electrolyte-abnormalities-of-dogs-with-marijuana-tetrahydrocannabinol-toxicity-223-cases-january-2017-july-2021
#14
JOURNAL ARTICLE
Erin M Binagia, Elizabeth A Gregory, Igor Yankin
OBJECTIVE: The goal of this study was to describe the historical, physical, neurologic, and clinicopathologic findings in dogs with a definitive diagnosis of marijuana/tetrahydrocannabinol toxicity. ANIMALS: A total of 223 dogs with known ingestion of marijuana or a positive tetrahydrocannabinol result on human urine multidrug test. METHODS: Retrospective study from January 2017 to July 2021. RESULTS: Median age was 1 year (1 month to 12 years)...
April 12, 2024: Journal of the American Veterinary Medical Association
https://read.qxmd.com/read/38606357/review-of-childhood-genetic-nephrolithiasis-and-nephrocalcinosis
#15
REVIEW
Ashley M Gefen, Joshua J Zaritsky
Nephrolithiasis (NL) is a common condition worldwide. The incidence of NL and nephrocalcinosis (NC) has been increasing, along with their associated morbidity and economic burden. The etiology of NL and NC is multifactorial and includes both environmental components and genetic components, with multiple studies showing high heritability. Causative gene variants have been detected in up to 32% of children with NL and NC. Children with NL and NC are genotypically heterogenous, but often phenotypically relatively homogenous, and there are subsequently little data on the predictors of genetic childhood NL and NC...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38606219/multiple-myeloma-presenting-with-bronchopneumonia-a-case-report
#16
Ashwin Karnan, Babaji Ghewade, Vivek D Alone, Anjana Ledwani
Multiple myeloma is a disease of the plasma cells of the bone marrow, resulting in the proliferation and release of the monoclonal protein, which further causes end-organ damage. We report an unusual presentation of multiple myeloma, thereby insisting on the need for the treating physician to be aware of the various presentations that can be encountered in regular practice. It is often difficult to diagnose, and the diagnosis is usually made at a late stage of the disease. Even though uncurable, with recent advances, a proper regimen, newer chemotherapeutic agents, and stem cell transplantation, the disease can be brought into remission...
March 2024: Curēus
https://read.qxmd.com/read/38592241/can-patients-with-electrolyte-disturbances-be-safely-and-effectively-treated-in-a-hospital-at-home-telemedicine-controlled-environment-a-retrospective-analysis-of-267-patients
#17
JOURNAL ARTICLE
Cohn May, Gueron Or, Segal Gad, Zubli Daniel, Hakim Hila, Fizdel Boris, Liber Pninit, Amir Hadar, Barkai Galia
BACKGROUND: Morbidities indicated for hospital-at-home (HAH) treatment include infectious diseases and exacerbations of chronic conditions. Electrolyte disturbances are not included per se. However, their rate is high. We aimed to describe our experience via the monitoring and treatment of such patients. METHODS: This was a retrospective analysis of patients in the setting of telemedicine-controlled HAH treatment. We collected data from the electronic medical records of patients who presented electrolyte disturbances...
February 29, 2024: Journal of Clinical Medicine
https://read.qxmd.com/read/38589121/effect-of-adjunct-vitamin-d-treatment-in-vitamin-d-deficient-pulmonary-tuberculosis-patients-a-randomized-double-blind-active-controlled-clinical-trial
#18
RANDOMIZED CONTROLLED TRIAL
Harish Chandra, Adil Rahman, Prashant Yadav, Geeta Maurya, Sushil Kumar Shukla
BACKGROUND: Since, Vitamin D [1α,25(OH)2 D)] enhances antimicrobial activity of Innate immunity and modulate Adaptive immune responses, simultaneously, so it play a potential role for balanced immune activity against Mycobacterium tuberculosis and restricting tissue injuries within the TB patients.(Chun et al., 2011) 9 We aimed to determine the role of adjunct Vitamin D treatment on the outcome of pulmonary tuberculosis patients and evaluated the effect of Vitamin D administration on Differential Leucocyte Count, Erythrocyte Sedimentation Rate, serum Adenosine deaminase, serum C- reactive protein, Oxygen saturation (SpO2) and Body Weight in Vitamin D deficient pulmonary tuberculosis patients...
April 2024: Indian Journal of Tuberculosis
https://read.qxmd.com/read/38586466/genetic-profile-of-a-large-spanish-cohort-with-hypercalcemia
#19
JOURNAL ARTICLE
Alejandro García-Castaño, Leire Madariaga, Sara Gómez-Conde, Pedro González, Gema Grau, Itxaso Rica, Gustavo Pérez de Nanclares, Ana Belén De la Hoz, Aníbal Aguayo, Rosa Martínez, Inés Urrutia, Sonia Gaztambide, Luis Castaño
INTRODUCTION: The disorders in the metabolism of calcium can present with manifestations that strongly suggest their diagnosis; however, most of the time, the symptoms with which they are expressed are nonspecific or present only as a laboratory finding, usually hypercalcemia. Because many of these disorders have a genetic etiology, in the present study, we sequenced a selection of 55 genes encoding the principal proteins involved in the regulation of calcium metabolism. METHODS: A cohort of 79 patients with hypercalcemia were analyzed by next-generation sequencing...
2024: Frontiers in Endocrinology
https://read.qxmd.com/read/38585408/preoperative-localization-of-water-clear-cell-giant-parathyroid-adenoma-a-case-report
#20
Farid Gossili, Simona Gauduseviciene, Daiva Erentaite, Peter Iversen, Charlotte E Almasi
Primary hyperparathyroidism commonly results from a solitary parathyroid adenoma. A water clear cell parathyroid adenoma represents a rare histological variant. This report presents the challenges of preoperative detection of a giant parathyroid adenoma, which was of the water clear cell variant. A case of severe hypercalcemia in a patient without clinical symptoms and equivocal findings on standard imaging modalities, in which the use of [11 C]C-Methionine PET/CT facilitated the preoperative detection of a giant parathyroid adenoma...
June 2024: Radiology Case Reports
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