Michael Dillon - Academia.edu (original) (raw)
Papers by Michael Dillon
Archives of Disease in Childhood, Sep 1, 1992
Bookmarks Related papers MentionsView impact
British Journal of Ophthalmology, 1981
Bookmarks Related papers MentionsView impact
Journal of the Tennessee Medical Association, 1975
Bookmarks Related papers MentionsView impact
The Journal of clinical endocrinology and metabolism, Jul 16, 2018
Five different activating PTH/PTHrP receptor (PTHR1) mutations have been reported as causes of Ja... more Five different activating PTH/PTHrP receptor (PTHR1) mutations have been reported as causes of Jansen metaphyseal chondrodysplasia (JMC), a rare disorder characterized by severe growth plate abnormalities and PTH-independent hypercalcemia. Assess the natural history of clinical and laboratory findings in twenty-four JMC patients and characterize the disease-causing mutant receptors in vitro. The H223R mutation occurred in 18 patients. T410P, I458R and I458K each occurred in single cases; T410R was present in a father and his two sons. Laboratory records were analyzed individually and in aggregate. Postnatal calcium levels were normal in most patients, but elevated between 0.15-10 years (11.8±1.37 mg/dL) and tended to normalize in adults (10.0±1.03 mg/dL). Mean phosphate levels were at the lower end of the age-specific normal ranges. Urinary calcium/creatinine (mg/mg) was consistently elevated (children: 0.80±0.40; adults: 0.28±0.19). Adult heights were well below the 3rd percentile ...
Bookmarks Related papers MentionsView impact
Current Paediatrics
Bookmarks Related papers MentionsView impact
Pediatr Nephrol 24 2225 2232, Jul 15, 2009
Bookmarks Related papers MentionsView impact
Eur J Pediat, 1994
Bookmarks Related papers MentionsView impact
In Johnson Rj and Feehally J Comprehensive Clinical Nephrology Mosby International London, 2000
Bookmarks Related papers MentionsView impact
Pediatric Nephrology, 1987
The prevalence of hypertension in children is of the order of 1%-3%. Of these children, 10% will ... more The prevalence of hypertension in children is of the order of 1%-3%. Of these children, 10% will have severe hypertension and in the majority the increased blood pressure will be secondary to renal disease. Nephrologically orientated investigation is therefore important. The most helpful investigations are: peripheral plasma-renin activity, 99mTc dimercaptosuccinic acid (DMSA) scan, main and segmental renal vein renin measurements and renal angiography plus 123I metaiodobenzyl guanidine (MIBG) scan in suspected phaeochromocytoma. Drug treatment of accelerated hypertension is most successfully undertaken by intravenous labetalol or sodium nitroprusside; sustained moderate-to-severe hypertension by a beta-blocker plus a vasodilator or an angiotensin-converting enzyme inhibitor with or without a diuretic; mild hypertension by diet, diuretic and if necessary by more powerful hypotensives. Surgical treatment by revascularization or nephrectomy and percutaneous transluminal angioplasty can be successful. Utilizing the current range of investigational and therapeutic tools the aetiology and appropriate management of hypertension can be effectively and safely undertaken in the majority of hypertensive children.
Bookmarks Related papers MentionsView impact
Annals of Medicine, 1997
Bookmarks Related papers MentionsView impact
Pediat Nephrol, 1993
Bookmarks Related papers MentionsView impact
Eur J Pediat, 1991
Renal tubular function was assessed in seven patients with methylmalonic acidaemia not responsive... more Renal tubular function was assessed in seven patients with methylmalonic acidaemia not responsive to vitamin B12. Five patients failed to concentrate their urine normally and in these patients the glomerular filtration rate was also reduced. Fractional excretion of sodium was increased in four patients, fractional excretion of potassium in one patient and in three there was a decreased tubular reabsorption of phosphate. Although possibly representing primary tubular damage these findings were thought to be consistent with adaptive changes secondary to the reduced glomerular filtration rate. Two patients had evidence of a defect of urinary acidification and several had a degree of hyporeninaemic hypoaldosteronism suggesting type 4 renal tubular acidosis. In one patient with a mild variant no renal disease was detected. Decreased renal function and tubular abnormalities were common in patients with methylmalonic acidaemia. It is likely that they are linked and essentially secondary to the tubulo-interstitial nephritis that is histologically demonstrable on renal biopsy. The failure of urinary concentrating ability and the disturbed urine acidification will contribute to the metabolic derangement during episodes of decompensation.
Bookmarks Related papers MentionsView impact
ABSTRACT
Bookmarks Related papers MentionsView impact
European Journal of Pediatrics, 1989
Bookmarks Related papers MentionsView impact
Expert Opinion on Pharmacotherapy 3, 2002
Bookmarks Related papers MentionsView impact
Pediatric Nephrology 16 460 462, Jan 4, 2001
Bookmarks Related papers MentionsView impact
Bookmarks Related papers MentionsView impact
The Journal of Pediatrics 137 723 726, Jan 11, 2000
Bookmarks Related papers MentionsView impact
Rheumatology 2001 933 938, 2001
Bookmarks Related papers MentionsView impact
Progress in Cardiology, 1988
Bookmarks Related papers MentionsView impact
Archives of Disease in Childhood, Sep 1, 1992
Bookmarks Related papers MentionsView impact
British Journal of Ophthalmology, 1981
Bookmarks Related papers MentionsView impact
Journal of the Tennessee Medical Association, 1975
Bookmarks Related papers MentionsView impact
The Journal of clinical endocrinology and metabolism, Jul 16, 2018
Five different activating PTH/PTHrP receptor (PTHR1) mutations have been reported as causes of Ja... more Five different activating PTH/PTHrP receptor (PTHR1) mutations have been reported as causes of Jansen metaphyseal chondrodysplasia (JMC), a rare disorder characterized by severe growth plate abnormalities and PTH-independent hypercalcemia. Assess the natural history of clinical and laboratory findings in twenty-four JMC patients and characterize the disease-causing mutant receptors in vitro. The H223R mutation occurred in 18 patients. T410P, I458R and I458K each occurred in single cases; T410R was present in a father and his two sons. Laboratory records were analyzed individually and in aggregate. Postnatal calcium levels were normal in most patients, but elevated between 0.15-10 years (11.8±1.37 mg/dL) and tended to normalize in adults (10.0±1.03 mg/dL). Mean phosphate levels were at the lower end of the age-specific normal ranges. Urinary calcium/creatinine (mg/mg) was consistently elevated (children: 0.80±0.40; adults: 0.28±0.19). Adult heights were well below the 3rd percentile ...
Bookmarks Related papers MentionsView impact
Current Paediatrics
Bookmarks Related papers MentionsView impact
Pediatr Nephrol 24 2225 2232, Jul 15, 2009
Bookmarks Related papers MentionsView impact
Eur J Pediat, 1994
Bookmarks Related papers MentionsView impact
In Johnson Rj and Feehally J Comprehensive Clinical Nephrology Mosby International London, 2000
Bookmarks Related papers MentionsView impact
Pediatric Nephrology, 1987
The prevalence of hypertension in children is of the order of 1%-3%. Of these children, 10% will ... more The prevalence of hypertension in children is of the order of 1%-3%. Of these children, 10% will have severe hypertension and in the majority the increased blood pressure will be secondary to renal disease. Nephrologically orientated investigation is therefore important. The most helpful investigations are: peripheral plasma-renin activity, 99mTc dimercaptosuccinic acid (DMSA) scan, main and segmental renal vein renin measurements and renal angiography plus 123I metaiodobenzyl guanidine (MIBG) scan in suspected phaeochromocytoma. Drug treatment of accelerated hypertension is most successfully undertaken by intravenous labetalol or sodium nitroprusside; sustained moderate-to-severe hypertension by a beta-blocker plus a vasodilator or an angiotensin-converting enzyme inhibitor with or without a diuretic; mild hypertension by diet, diuretic and if necessary by more powerful hypotensives. Surgical treatment by revascularization or nephrectomy and percutaneous transluminal angioplasty can be successful. Utilizing the current range of investigational and therapeutic tools the aetiology and appropriate management of hypertension can be effectively and safely undertaken in the majority of hypertensive children.
Bookmarks Related papers MentionsView impact
Annals of Medicine, 1997
Bookmarks Related papers MentionsView impact
Pediat Nephrol, 1993
Bookmarks Related papers MentionsView impact
Eur J Pediat, 1991
Renal tubular function was assessed in seven patients with methylmalonic acidaemia not responsive... more Renal tubular function was assessed in seven patients with methylmalonic acidaemia not responsive to vitamin B12. Five patients failed to concentrate their urine normally and in these patients the glomerular filtration rate was also reduced. Fractional excretion of sodium was increased in four patients, fractional excretion of potassium in one patient and in three there was a decreased tubular reabsorption of phosphate. Although possibly representing primary tubular damage these findings were thought to be consistent with adaptive changes secondary to the reduced glomerular filtration rate. Two patients had evidence of a defect of urinary acidification and several had a degree of hyporeninaemic hypoaldosteronism suggesting type 4 renal tubular acidosis. In one patient with a mild variant no renal disease was detected. Decreased renal function and tubular abnormalities were common in patients with methylmalonic acidaemia. It is likely that they are linked and essentially secondary to the tubulo-interstitial nephritis that is histologically demonstrable on renal biopsy. The failure of urinary concentrating ability and the disturbed urine acidification will contribute to the metabolic derangement during episodes of decompensation.
Bookmarks Related papers MentionsView impact
ABSTRACT
Bookmarks Related papers MentionsView impact
European Journal of Pediatrics, 1989
Bookmarks Related papers MentionsView impact
Expert Opinion on Pharmacotherapy 3, 2002
Bookmarks Related papers MentionsView impact
Pediatric Nephrology 16 460 462, Jan 4, 2001
Bookmarks Related papers MentionsView impact
Bookmarks Related papers MentionsView impact
The Journal of Pediatrics 137 723 726, Jan 11, 2000
Bookmarks Related papers MentionsView impact
Rheumatology 2001 933 938, 2001
Bookmarks Related papers MentionsView impact
Progress in Cardiology, 1988
Bookmarks Related papers MentionsView impact