Results 51 to 60 of about 10,151 (205)

A novel homozygous W99G mutation in CLDN-16 gene causing familial hypomagnesemic hypercalciuric nephrocalcinosis in Turkish siblings

The Turkish Journal of Pediatrics, 2018
Familial hypomagnesemic hypercalciuric nephrocalcinosis (FHHNC) (OMIM: 248250) is characterized by hypomagnesemia, hypercalciuria and nephrocalcinosis. FHHNC inevitably progresses to end-stage renal disease in decades.
Caner Alparslan, Elif Perihan Öncel, Sinem Akbay, Demet Alaygut, Fatma Mutlubaş, Mansur Tatlı, Martin Konrad, Önder Yavaşcan, Belde Kasap-Demir   +8 more
doaj   +1 more source

A Case of Failure to Thrive- Investigation Beyond a Positive Sweat Test

Çocuk Dergisi, 2021
Failure to thrive represents a difficult entity to define and can be associated with several diseases. Therefore, combining all the data (family history, perinatal and infancy information) with the physical examination and laboratory findings is a ...
Sara Maria Mosca Ferreira Da Silva, Telma Barbosa, Ana Teixeira, Céu R. Mota, Teresa Costa, Liane Correia Costa   +5 more
doaj   +1 more source

Effect of Two Therapeutic Renal Diets on Hormonal and Regulatory Pathways Affecting Calcium Homeostasis in Cats With Early‐Stage Chronic Kidney Disease

Journal of Animal Physiology and Animal Nutrition, EarlyView.
ABSTRACT Chronic kidney disease (CKD) is a known risk factor for hypercalcemia in cats. Phosphate‐restricted diets have also been implicated in causing hypercalcemia, in part because phosphate restriction increases the Ca:P ratio. The primary objective of this study was to evaluate the impact of two different therapeutic renal foods on ionized (iCa ...
Jean A. Hall, Elizabeth M. Morris, Dale A. Fritsch, John J. Brejda, Kim M. Wilson   +4 more
wiley   +1 more source

Relationship between vitamin D deficiency and early implant failure and osseointegration

Periodontology 2000, EarlyView.
Abstract Background This systematic review investigated the relationship between pre‐operative vitamin D levels and implant osseointegration and implant‐related outcomes. It also assessed studies involving vitamin D supplementation before implant placement.
Richard J. Miron, Nathan E. Estrin, Ana Paz, Reinhard Gruber, Nima Farshidfar, Yufeng Zhang, Anton Sculean, Thomas G. Wiedemann, Paras Ahmad   +8 more
wiley   +1 more source

Hypercalciuria caused by CYP24A1 mutation: Fourteen years of the patient’s follow-up [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2018
Introduction. Recently, inactivation mutations of CYP24A1, the gene encoding vitamin D 24-hydroxylase, were identified in hypercalciuric nephrolithiasis and nephrocalcinosis.
Peco-Antić Amira, Ivelja Biljana, Miloševski-Lomić Gordana, Paripović Dušan, Konrad Martin   +4 more
doaj   +1 more source

Vitamin D Intoxication in Three Children With Varied Manifestations: A Case Series and Review

Journal of Pediatrics Review, 2021
Background: Inadvertent and erroneous prescription of vitamin D beyond the recommended dosage and route of administration can cause vitamin D intoxication in children. Infants are particularly vulnerable to such toxicity.
Manas Ranjan Behera, Bijay Kumar Meher, Chinmay Kumar Behera, Sibabratta Patnaik   +3 more
doaj   +1 more source

Lanthanum carbonate to control plasma and urinary oxalate level in type 1 primary hyperoxaluria?

IJU Case Reports, 2021
Introduction The therapy to reduce urinary oxalate excretion in primary hyperoxaluria type 1 is still required. Case presentation A 37‐year‐old hemodialyzed man suffered from systemic oxalosis secondary to primary hyperoxaluria type 1 exhibited a drastic
Agnieszka Pozdzik, Cristina David, Jelle Vekeman, Frederik Tielens, Michel Daudon   +4 more
doaj   +1 more source

Dihydrotachysterol: a bad choice in the treatment of chronic hypoparathyroidism

Ожирение и метаболизм, 2022
Hypoparathyroidism is an endocrine disease caused by damage of the parathyroid glands and characterized by underproduction of parathyroid hormone. This can lead to severe hypocalcemia and its associated complications.
E. S. Avsievich, E. V. Kovaleva, A. M. Gorbacheva, A. K. Eremkina, N. G. Mokrysheva   +4 more
doaj   +1 more source

Clinical Insights Into Hypercalcemia of Malignancy in Childhood

Pediatric Blood &Cancer, Volume 73, Issue 7, July 2026.
ABSTRACT Hypercalcemia of malignancy (HCM) is a rare but life‐threatening metabolic emergency in children that occurs in less than 1% of pediatric cancer cases, with a reported incidence ranging from 0.4% to 1.0% across different studies. While it is observed in 10%–20% of adult malignancies, pediatric HCM remains relatively uncommon.
Hüseyin Anıl Korkmaz
wiley   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source