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Targeting Hypercalciuria in SLC34A1-Related Disorders: Impact of Oral Phosphate Therapy and Novel Genetic Insights in Pediatric Case Series.

Pathogenic variants in the SLC34A1 gene, which encodes the sodium-phosphate cotransporter NaPi-IIa, lead to a spectrum of renal tubular disorders, including infantile hypercalcemia type 2, nephrolithiasis/osteoporosis-hypophosphatemia type 2, and Fanconi renotubular syndrome type 2. Despite increasing recognition of SLC34A1-related disorders, data on genotype-phenotype correlations and treatment response remain limited due to the rarity of the condition. We retrospectively analyzed the clinical, biochemical, and molecular features of 11 patients from unrelated families carrying 12 pathogenic o…

Hematopoietic Stem Cell Transplantation in Infantile Osteopetrosis: Lessons from a Resource-Limited Setting.

Infantile Osteopetrosis is a rare inherited bone disorder characterized by a reduced or complete lack of osteoclast function, leading to def … mented in 3 (30%) cases, while chronic GVHD was documented in 2(20%). Two (20%) cases had post-HSCT hypercalcemia. Mixed Chimerism was observed in 8 cases (80%) in the first 100 days but did not affect transplant outcomes. OS and DFS for the study were 80%. The cause of death was refractory seizures in one patient, while another patient died due to gut GVHD and …

Clinical and immune features associated with chromosome 13q deletion and PRKCSH downregulation in newly diagnosed multiple myeloma.

BACKGROUND: Newly diagnosed multiple myeloma (NDMM) shows marked immune heterogeneity. Deletion of chromosome 13q [del(13q)] is common in mu … anced disease stage, a higher burden of cytogenetic high-risk lesions, and adverse features such as hypercalcemia, elevated β2-microglobulin, and bone marrow plasmacytosis. Integrative analyses identified PRKCSH as a downregulated hub in del(13q) and linked it to immune-related pathways and infiltration patterns. Lower PRKCSH expression was associated with high …

Case Report: Developmental-like skeletal deformities and transient osteosclerosis as rare presentations of primary hyperparathyroidism.

BACKGROUND: Skeletal disorders in primary hyperparathyroidism (PHPT) classically manifest with osteoporosis or brown tumors. While skeletal deformities are documented in resource-limited areas, coxa vara combined with genu valgum remains unreported. CASE PRESENTATION: A 14-year-old Tibetan female from rural China presented with progressive bilateral coxa vara (left: 102.45°, right: 109.10°) and genu valgus (left: 24.20°, right: 18.80°). Staged osteotomies for lower limb deformities were planned. After the stage 1 osteotomy, severe hypercalcemia (peak: 3.79 mmol/L; reference: 2.11-2.52 mmol/L)…

Parathyroid histology in normocalcemic and hypercalcemic primary hyperparathyroidism with hypercalciuric renal stones.

CONTEXT: Hypercalcemic (HPHPT) and normocalcemic primary hyperparathyroidism (NHPT) are distinct conditions with different biological and hi … ncreased CYP27B1/VDR expression, suggesting an appropriate autocrine/paracrine counterregulation to hypercalcemia/high PTH.

Transcervical video-assisted mediastinoscopy for resection of an ectopic parathyroid adenoma in the mediastinum: a case report.

BACKGROUND: Mediastinal ectopic parathyroid adenoma (MEPA) presents significant difficulties in both preoperative localization and surgical … a rare case of primary hyperparathyroidism (PHPT) in a 37-year-old male presenting with persistent hypercalcemia and elevated parathyroid hormone (PTH) levels, caused by a mediastinal ectopic parathyroid adenoma located in the aortopulmonary (AP) window. While initial imaging modalities failed to localize the lesion, it was successfully identified using 99mTc- …

Percutaneous Ultrasound-Guided Ablation of Implanted Parathyroid Glands for Recurrent Hyperparathyroidism After Total Parathyroidectomy.

Purpose: Tertiary hyperparathyroidism is a frequent complication of end-stage kidney disease that may require parathyroidectomy when medical … ing at least two of the following: (1) >50% intact parathyroid hormone reduction, (2) correction of hypercalcemia, (3) discontinuation of calcimimetic therapy. Results: Technical success was achieved in 10 of 11 (90.9%) patients; one patient had incomplete ablation due to proximity of the gland to the skin. Among technically successful cases, all (100%) achieve …

Comparative Effectiveness and Safety of Phosphorus-Lowering Drugs for CKD 3-5 Stages.

OBJECTIVE: To evaluate the efficacy and safety of 12 phosphorus-lowering drugs for hyperphosphatemia in chronic kidney disease 3-5 stages. … t, or third best. Calcium/magnesium carbonate, nicotinic acid, and colestilan posed lower risks for hypercalcemia than calcium-based phosphorus binders. All phosphorus-lowering drugs significantly affect serum intact parathyroid hormone levels compared with placebo. Colestilan, tenapanor, and PA21 posed a higher risk for gastrointestinal discomfort. In addition …

Brown Tumors of Hyperparathyroidism: A 13-Year Retrospective Case Series from a Tertiary Center in South India.

INTRODUCTION: Brown tumors are rare, non-neoplastic osteolytic lesions resulting from hyperparathyroidism (HPT), often mimicking bone metast … thyroidectomy, predominantly for adenomas. Two patients died before surgery due to complications of hypercalcemia. Lesions regressed following parathyroidectomy in most cases, with a mean fracture healing time of 3 months. CONCLUSION: Brown tumors, though rare, should be considered in the differential diagnosis of lytic bone lesions in endemic regions. Biochem …

Множество случаев заболевания раком молочной железы во время лечения: доклад по делу.

Исследования: Рак груди представляет собой злокачественную опухоль, которая угрожает здоровью женщин. Среди больных раком молочной железы от 4,2% до 17% могут страдать многочисленными первичными злокачественными новообразованиями. Случаи заболевания раком груди и множественной миэломой относительно редки в клинической практике. В этом документе сообщается об одном пациенте, у которого во время лечения рака груди развилась миелома. Клинические данные: Пациентка была 56-летней женщиной, попавшей в больницу из-за "животы в течение 4 дней, через год после лечения рака левой груди". Пациенту диагно

Совпадение в аннотации оригинала
Research Background: Breast cancer is a malignant tumor that threatens women's health. Among breast cancer patients, about 4.2% to 17% may s … time of follow-up. Conclusions: For patients with breast cancer, if they develop bone pain, anemia, hypercalcemia or renal dysfunction that cannot be explained by tumor metastasis or conventional complications after surgery or during follow-up, clinicians should be alert to the possibility of second primary tumors.

Epidemiology of bone metastasis in France between 2009 and 2018.

Bone is the third most frequent metastatic site, and bone metastases (BM) are responsible for severe skeletal complications requiring dedica … et of a skeletal-related event (SRE): severe bone pain, pathologic fracture, spinal compression, or hypercalcemia, in patients with a diagnosis of cancer. Patients with primary sarcoma or with prevalent BM during the 3 yr preceding the inclusion date were excluded. A total of 6663 new BM patients over 10 yr, corresponding to 775 573 patients in the whole French …

Renal Failure-Related Mortality in Multiple Myeloma: United States Trends From 1999 to 2020.

BACKGROUND: Multiple myeloma (MM) causes the deposition of monoclonal light chains in kidney tubules and glomeruli. This nephrotoxicity is exacerbated by nephrotoxic medicines, sepsis, dehydration and hypercalcemia. This study assesses the temporal, racial, sex-based, and regional disparities in mortality due to renal failure associated with MM in the US from 1999 to 2020. METHODS: Data was extracted from the CDC WONDER database. Age-adjusted mortality rates (AAMRs) per 100,000 persons were determined. The change in AAMRs was examined through annual percent Change (APC) and the average annual…

Vitamin D and Postoperative Recovery in Elderly Ribeirinhos-Riverside Amazon Communities with Femur Fractures.

Background/Objectives: Vitamin D deficiency is prevalent in elderly populations and may impact surgical recovery. Despite the equatorial loc … m was elevated in the supplementation group (1.29 ± 0.01 vs. 1.08 ± 0.02 mmol/L, p < 0.001) without hypercalcemia. Blood glucose was lower in supplemented patients (83.8 ± 1.4 vs. 152.2 ± 9.6 mg/dL, p < 0.001). Medical records revealed that 73.3% had hypertension and 31.7% had diabetes, with 25% having both conditions. Conclusions: Pre-existing vitamin D supple …

Ferroptosis induction, androgen biosynthesis disruption and prostate cancer suppression by androgen and vitamin D combination.

Prostate cancer regression by hormonal vitamin D3(calcitriol) is clinically untenable despite its well-documented anticancer effects in experimental models, since supraphysiologic dosing of calcitriol required in clinical settings causes hypercalcemia and other toxicities. We show that subnanomolar/low-nanomolar calcitriol, while non-inhibitory on its own, inhibited CRPC cells upon co-treatment with androgen (5α-DHT) at a physiologic level, evident from G1/S cell cycle arrest, induction of p21/Cip1, blockade of clonal cell growth, retardation of proliferation, migration and invasion of cells i…

Dysmagnesemia in critically ill diarrheal patients in Bangladesh.

BACKGROUND: Despite having a pivotal role in numerous physiologic functions, magnesium disorders are rarely considered in clinical practice. … Hypermagnesemia was associated with hypochloremia (p = 0.017), metabolic acidosis (p = 0.014), and hypercalcemia (p = 0.002). CONCLUSION: The high occurrence of dysmagnesemia in our study highlights the need to closely monitor magnesium in critically ill ICU patients, particularly in resource limited settings. This could help prevent serious complications rel …

Dietary Supplement Safety in Older Adults: A Review of Published Case Reports.

Objective: This review summarizes recent case reports where the consumption of dietary supplements by older adults may have caused an advers … upplement from multiple sources, and supplement contamination. Prominent adverse events encompassed hypercalcemia (vitamin D), thyroid test interference (vitamin B7), neuropathy (vitamin B6), oxalate nephropathy (vitamin C), and interactions with warfarin therapy (vitamins E and K, and omega-3 fatty acids). Conclusion: Health care practitioners are advised to c …

Urinary calcium and bone resorption markers during 3 years of denosumab treatment in pediatric osteogenesis imperfecta.

Osteogenesis imperfecta (OI) is a rare genetic disorder predominantly resulting from mutations in COL1A1 and COL1A2. Denosumab, a monoclonal antibody targeting RANKL, inhibits osteoclast differentiation and activation, thereby preventing bone resorption. Despite its efficacy as an anti-resorptive therapy, concerns of rebound hypercalcemia limit its clinical use. This investigation was part of the multicenter trial NCT02352753, which was terminated early due to calcium-related adverse events. We implemented a sub-study to investigate dynamics of bone resorption markers and calcium, and the prec…

Primary hyperparathyroidism induces erythropoietin resistance through fibroblast growth factor 23.

INTRODUCTION: Primary hyperparathyroidism (PHPT) often causes hypercalcemia and complications requiring parathyroidectomy (PTX). Anemia affects 15%-50% of PHPT patients, but its mechanisms remain unclear. While parathyroid hormone (PTH) and fibroblast growth factor 23 (FGF23) contribute to anemia in secondary hyperparathyroidism through erythropoietin (EPO) resistance and bone marrow fibrosis, their roles in PHPT are less defined. This study explores the effect of PHPT on erythropoiesis by assessing hemoglobin (Hb), EPO, and FGF23 levels before and after PTX. METHODS: In a monocentric longitu…

Predictors of Hungry Bone Syndrome and Reintervention After Subtotal Versus Total Parathyroidectomy for Secondary Hyperparathyroidism in Dialysis Patients: A Single-Center Cohort.

Background/Objectives: Secondary hyperparathyroidism (SHPT) is a prevalent complication in end-stage renal disease, often necessitating surg … . Independent predictors of reintervention included absence of concomitant thymectomy, preoperative hypercalcemia, fewer visualized glands preoperatively, and preoperative PTH > 2000 pg/mL. Elevated alkaline phosphatase levels (>300 U/L), severe bone pain, and the TPTX procedure itself were significant predictors of HBS. Conclusions: Surgical strategy for SHPT …

Duration of Menopause, Rather than Primary Hyperparathyroidism Severity, Predicts Osteoporosis in Postmenopausal Women: A Pilot Study from a Spanish Reference Center.

Background/Objectives: Osteoporosis is considered a surgical indication in primary hyperparathyroidism (PHPT), regardless of menopausal stat … of bone fragility were collected prior to parathyroidectomy. Biochemical parameters and months with hypercalcemia (MHCa)-as a surrogate for PHPT exposure-were analyzed. BMD results were expressed as a densitometric index, the T-Score. Results: Higher age (p = 0.043), greater body mass index (BMI) (p = 0.039), more YSM (p = 0.027), lower serum calcium levels (s- …