Management of Craniosynostosis in Lethal Perinatal Hypophosphatasia.

Although perinatal lethal hypophosphatasia (HPP) was once a disease with a universally poor prognosis, it has now become a rare but treatable condition with the advent of enzyme replacement therapy with asfotase alfa. As a result, a greater population of patients with perinatal HPP are presenting with abnormal head shape and craniosynostosis. The authors present here 3 cases of perinatal lethal HPP, 1 treated with traditional open cranial vault remodeling and 2 treated utilizing distraction osteogenesis techniques. All patients demonstrated outcomes comparable to those previously reported with traditional observation or open cranial vault repair. Thorough consideration and discussion between the surgical team and patient's family is needed to determine a treatment plan that best addresses the goals of patient and family in light of recent advances in medical treatment in this rare patient population in which surgical interventions were previously nearly impossible. This article further supports the safety and efficacy of surgical intervention and explores the utility of distraction osteogenesis to address craniosynostosis in this patient population.

A life-threatening case of stenosing pill hypopharynx-oesophagitis caused by a tamsulosin capsule.

Pill oesophagitis is a frequent clinical entity that may induce dysphagia and exceptionally oesophageal occlusion. The mechanisms inducing mucosal inflammation are not completely defined, but oesophageal damage occurring when the caustic content of a drug remains in the oesophagus long enough to produce mucosal lesions seems to be a main factor. We report a case of a life-threatening stenosing pill hypopharynx-oesophagitis caused by the ingestion of a capsule of tamsulosin, a drug diffusely used for benign prostatic hyperplasia treatment.

Effects of continuous infusion of parathyroid hormone and parathyroid hormone-related peptide on rat bone in vivo: comparative study by histomorphometry.

We have investigated the actions of parathyroid hormone (PTH) and PTH-related peptide (PTHrP) on the bones of parathyroidectomized (PTX) rats by histomorphometric analysis. Miniosmotic pumps filled with either human PTH (hPTH)(1-34), hPTHrP(1-34) or vehicle were subcutaneously implanted on the backs of the rats. The peptides were continuously infused for 6 days at a rate of 15 nmole/kg/day. PTH and PTHrP exhibited similar hypercalcemic and hypophosphatemic actions on these PTX rats. No significant differences were noted in bone weight or calcium and phosphorus contents of the ashed bone among the 3 groups. By quantitative histomorphometric analysis, hPTH(1-34) and hPTHrP(1-34) were found similarly to enhance both bone formation and resorption. Peritrabecular fibrosis was observed only in the PTH-infused animals. PTHrP thus mimics the actions of PTH, but is not as effective in promoting mesenchymal cell proliferation along the bone trabeculae.

[Enzyme deficiencies in leukocytes of workers exposed to mercury vapors. I. Neutrophils]. / Niedobory enzymatyczne w krwinkach bialych u osób zawodowo narazonych na pary rteci. Cz. I. Granulocyty obojetnochlonne.

The influence of occupational environment intoxicated by mercury on the enzymatic reactivity of neutrophils has been determined by investigating the activity of 10 enzymes in the peripheral blood neutrophils. The study comprised 89 men who have worked from 2 to 26 years producing chlorine by mercury electrolise method. The concentration of mercury in blood and urine of 15 +/- 13 micrograms l-1 and 44 +/- 43 micrograms x g creatinine-1, respectively was found. The deficiency of 1 enzyme was stated in 33%, of 2 enzymes in 27%, of 3 enzymes in 13% and of 4 enzymes in 3% of the workers exposed. The normal enzymatic reactivity of neutrophils was found in 25% of them.

[Effect of antacids on mineral metabolism]. / Wirkung der Antazida auf den Mineralstoffwechsel.

Side effects of antacid therapy are dose dependant and compound related. High dose antacid intake may lead to fluid retention in the body depending on the sodium content of the different antacid preparations. Sodium bicarbonate ingestion provokes metabolic alkalosis and alkaliuria, the "nonsystemic calcium and magnesium containing antacids" cause these changes too, but to a lower degree. Urinary pH elevation favours the precipitation of calcium and magnesium salts, predisposing to renal stone formation. In patients with renal insufficiency the calcium and magnesium absorption may lead rapidly to toxic serum concentrations. Calcium and magnesium containing acids may provoke an acid rebound, which is clinically not relevant following magnesium-hydroxide-ingestion. Phosphorus depletion is an important side effect of aluminum hydroxide intake. The phosphorus depletion syndrome combined with skeletal demineralisation and osteomalacia may occur. As well as calcium and magnesium cations the tribasic aluminum will be absorbed from the gut in small amounts. In patients with renal insufficiency aluminum deposition in the brain grey matter following Al(OH)3 ingestion will occur and seems to be a co-factor for the development of a dialysis encephalopathy syndrome. The clinical relevance of aluminum absorption from gut in patients with normal renal function is unknown until now.