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[Effect and safety of Burosumab in the treatment of 4 children with X-linked hypophosphatemia].

Objective: To evaluate the effectiveness and safety of treatment with Burosumab in pediatric X-linked hypophosphatemia (XLH) patients. Metho … , and the severity of rickets in the 4 patients had all improved. No adverse drug reactions such as nephrocalcinosis, local skin injection reaction, hyperphosphatemia, or vitamin D deficiency were observed. Conclusion: Burosumab can improve clinical symptoms in children with XLH with a good safety profile.

Marked reduction of Tamm-Horsfall protein synthesis in hyperprostaglandin E-syndrome.

Hyperprostaglandin E-syndrome (HPS), a recently described variant of Bartter's syndrome (BS), resembles BS in a number of symptoms but is distinct from BS in others. Similar to BS, HPS is characterized by congenital hypokalemic alkalosis, hypertrophy of the juxtaglomerular apparatus, hyperreninemia, secondary hyperaldosteronism, normal blood pressure and renal diabetes insipidus. Other than BS, HPS is constantly associated with chronic hypercalciuria and nephrocalcinosis as well as both renal and systemic PGE2 overproduction. Correction of most of the symptoms in HPS is achieved by permanent i…

Single Ultra-High-Dose Cholecalciferol to Prevent Vitamin D Deficiency in Pediatric Hematopoietic Stem Cell Transplantation.

Vitamin D deficiency is prevalent among childhood hematopoietic stem cell transplantation (HSCT) recipients and associated with inferior sur … d urine calcium/creatinine ratios during treatment, but none showed clinical or radiologic signs of nephrocalcinosis or nephrolithiasis. Our findings indicate that single ultra-high-oral dose vitamin D treatment given just before HSCT is safe and well tolerated in the immediate peritransplant period in children. Patients in our study were able to achieve and susta …

Interaction of dietary fat and protein in spontaneous diseases of Syrian golden hamsters.

The influence of interactions between dietary fat and protein on spontaneous diseases was investigated in Syrian golden hamsters fed two lev … d most often in hamsters fed HF-HP diet after 8 weeks. Gastric and renal vascular calcification and nephrocalcinosis incidences were reduced by 50-100% in hamsters fed HF-HP diet after 8 weeks, and HF diet fed at this time reduced vascular calcification in the heart in both sexes and in the lungs in males. Inflammation was generally influenced similarly by diets f …

SHORT syndrome due to a novel de novo mutation in PRKCE (Protein Kinase Cɛ) impairing TORC2-dependent AKT activation.

SHORT syndrome is a rare, recognizable syndrome resulting from heterozygous mutations in PIK3R1 encoding a regulatory subunit of phosphoinositide-3-kinase (PI3K). The condition is characterized by short stature, intrauterine growth restriction, lipoatrophy and a facial gestalt involving a triangular face, deep set eyes, low hanging columella and small chin. PIK3R1 mutations in SHORT syndrome result in reduced signaling through the PI3K-AKT-mTOR pathway. We performed whole exome sequencing for an individual with clinical features of SHORT syndrome but negative for PIK3R1 mutation and her parent

Clinical features and respiratory complications in Myhre syndrome.

We describe the clinical characteristics of 4 singleton cases, 3 males and 1 female, with Myhre Syndrome (OMIM 139210), who were born to non-consanguineous parents. Three cases had no family history of similarly affected individuals but 1 male's mother had short stature, some facial features suggestive of Myhre syndrome and evidence of skewed X-chromosome inactivation in her blood DNA. Short stature, deafness, learning difficulties, skeletal anomalies and facial dysmorphisms were evident in all cases. Arthralgia and stiff joints with limited movement were also present. The facial appearance, t

Identification of hydroxyapatite deposits in the smooth muscle cells and ganglion cells of autopsied small intestines.

We have studied the deposition of calcium salts in the autopsied intestines which have not been described previously as far as we were able to determine. In order to clarify the incidence, predisposing conditions, mineral compositions of the deposited materials and clinical significance of this phenomenon, we examined 76 cases of consecutive autopsied small intestines by von Kossa's staining. Deposited calcium salts were further examined by electron microscopically, energy-dispersive X-ray spectroscope and electron diffraction analysis. Deposition of calcium salts was observed in the small int

Intellectual Disability and Psychotropic Medications.

Andrew is a 17-year-old male with trisomy 21, commonly known as Down syndrome, and accompanying severe intellectual disability who presents to your primary care office with his father for the first time to establish care and assistance with transition. Andrew has a history of a complete atrioventricular canal that was repaired as an infant and poorly controlled infantile spasms. Currently, he struggles with constipation, esophageal strictures, medullary nephrocalcinosis, urinary retention, sleep dysregulation, G-tube dependency, and hip dysplasia.Andrew walked at 11 to 12 years of age. Current…

Vitamin D status in primary hyperparathyroidism in India.

OBJECTIVES: Primary hyperparathyroidism is a syndrome with variable clinical expression, presenting as asymptomatic hypercalcaemia in Wester … tal group of patients, brown tumours in 60%, and pathological fractures in 40%. Renal stones and/or nephrocalcinosis was present in 50% of patients. Mean serum calcium, phosphate and alkaline phosphatase concentrations (mean of 3 days values) were 2.72 +/- 0.24 mmol/l; 1.01 +/- 0.28 mmol/l and 425 +/- 249 IU/l respectively. The 24-hour (mean of 3 days values) urin …

Vitamin D intakes and health outcomes in infants and preschool children: Summary of an evidence report.

BACKGROUND: A systematic review was commissioned to support an international expert group charged to update the Food and Agriculture Organis … nsity), and on outcomes for setting vitamin D upper limits (e.g. hypercalcemia, hypercalciuria, and nephrocalcinosis). For most outcomes, the strength of evidence was low or very low. Evidence was rated moderate for the effect of daily vitamin D supplementation on raising serum 25(OH)D concentrations, and a random-effects meta-regression analysis of 28 randomised …

The combined use of intravenous and oral calcium for the treatment of vitamin D dependent rickets type II (VDDRII).

OBJECTIVE: Some patients with rickets are resistant to vitamin D and its analogues; we therefore assessed whether or not normal mineralizati … ogically, with improvement in height. The patients are under current follow-up, with no evidence of nephrocalcinosis or deterioration of glomerular filtration rate. CONCLUSIONS: (a) The use of intravenous high dose calcium infusions followed by high dose oral calcium is an effective method of treatment of vitamin D dependent rickets type II. (b) The treatment was …

Hypomagnesaemia is absent in children with autosomal dominant polycystic kidney disease.

BACKGROUND: Hypomagnesaemia is present in 40-50% of children with autosomal dominant renal cysts and diabetes syndrome (RCAD). On the contrary, the prevalence of hypomagnesaemia in children with autosomal dominant polycystic kidney disease (ADPKD) has never been examined. We aimed to investigate whether hypomagnesaemia is present in children with polycystic kidney diseases. METHODS: Children with cystic kidney diseases were investigated in a cross-sectional study. Serum concentrations of magnesium (S-Mg) and fractional excretion of magnesium (FE-Mg) were tested. Fifty-four children with ADPKD

Diagnosis, treatment, and follow-up of patients with hypophosphatasia.

INTRODUCTION: Hypophosphatasia is a rare inherited systemic metabolic disorder, with an estimated prevalence in the severe forms of the disease of 1/100.000-1/300.000, that affects the typical architecture of bone, leading to defective mineralization during growth and remodeling. It is characterized by loss-of-function variants in the ALPL gene, resulting in low activity of tissue-nonspecific alkaline phosphatase. In severe cases, it can be fatal. OBJECTIVE: To generate recommendations on the diagnosis, treatment, and follow-up of patients with hypophosphatasia based on available evidence. M

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… HPP should be considered in pediatric cases of seizures responsive to vitamin B6 or nephrocalcinosis. (Strong in favor). … Renal ultrasonography helps monitor nephrocalcinosis and kidney stones in the adult population [ 15 , 23 , 39 ]. …

Tolerability and outcomes of kinetically guided therapy with gentamicin in critically ill neonates during the first week of life: an open-label, prospective study.

BACKGROUND: Aminoglycosides are bactericidal antibiotics used worldwide for the treatment of serious infections in critically ill patients, … olerability was evaluated during the 24-month follow-up period using renal sonography to screen for nephrocalcinosis and transient evoked otoacoustic emission recordings to evaluate hearing abnormalities. RESULTS: A total of 84 neonates (all white; 53 males, 31 females; birth weight range, 0.8-4.56 kg; GA range, 24-42 weeks) were enrolled in 3 groups: group 1, GA …

Mice Carrying a Dominant-Negative Human PI3K Mutation Are Protected From Obesity and Hepatic Steatosis but Not Diabetes.

Phosphatidylinositol 3-kinase (PI3K) plays a central role in insulin signaling, glucose metabolism, cell growth, cell development, and apoptosis. A heterozygous missense mutation (R649W) in the p85α regulatory subunit gene of PI3K (PIK3R1) has been identified in patients with SHORT (Short stature, Hyperextensibility/Hernia, Ocular depression, Rieger anomaly, and Teething delay) syndrome, a disorder characterized by postnatal growth retardation, insulin resistance, and partial lipodystrophy. Knock-in mice with the same heterozygous mutation mirror the human phenotype. In this study, we show tha

Severe Torsades de Pointes with acquired QT prolongation.

Torsades de pointes (TdP) is a fatal polymorphic ventricular tachycardia in association with congenital or acquired QT prolongation. Concomitant electrolyte disturbances and drugs potentiate the development of TdP. We describe a severe case of refractory TdP in the setting of methadone, cocaine, hypokalemia and hypomagnesemia. The successful treatment was achieved with the administration of magnesium, isoproterenol, and electrolyte replacement.

Congenital and acquired diseases related to stone formation.

PURPOSE OF REVIEW: To summarize the latest findings of congenital and acquired diseases related to stone formation and help understanding the multitude of cofactors related to urolithiasis. RECENT FINDINGS: Urolithiasis is related to a broad spectrum of congenital and acquired diseases and its management varies according to the stone type, underlying disease or recurrence rate, but it also changes according to recent findings and developments. As prevalence of urolithiasis is constantly increasing, identification of high-risk stone formers and early treatment is essential. Therefore, genetic