Searchable abstracts of presentations at key conferences on calcified tissues

ba0006p122 | (1) | ICCBH2017

Bisphosphonate treatment initiated in the newborn period – our experience

Bayer Milan , Jirotkova Jana

Background: Osteogenesis imperfecta (OI) is a clinically heterogenous heritable connective tissue disorder with increased bone fragility. Intravenous bisphosphonate therapy is the most widely used medical approach. This treatment leads to an increase of the bone mineral density and reduces the fracture rate.Presenting problem: We present our experience with five OI patients (one female, four males) between 2005 and 2016 who had bone fractures either in u...

ba0004p50 | (1) | ICCBH2015

‘Double trouble': Duchenne muscular dystrophy and osteogenesis imperfecta in one patient -- a case report

Bayer Milan , Taslerova Renata , Mrazova Lenka , Fajkusova Lenka , Oslejskova Hana

Background: Duchenne muscular dystrophy (DMD) is characterised by progressive muscle weakness leading to loss of mobility, cardiomyopathy, and respiratory insufficiency. Typical initial manifestation in boys (X-linked disorder) comprises proximal muscle weakness and calf hypertrophy. Osteogenesis imperfecta (OI) is a clinically heterogenous heritable connective tissue disorder with increased bone fragility. Fractures rise from little or no apparent trauma.<p class="abstext...

ba0007p56 | (1) | ICCBH2019

Unusual cause of abdominal pain in adolescent girl

Kolsky Alexander , Libansky Petr , Jiskrova Hana , Bayer Milan

Background: Recurrent abdominal pain is common in children and adolescents. This symptom could be raised by the complex of both functional and organic etiologies.Presenting problem: We put forward a seventeen-years-old adolescent girl with personal history of repeated abdominal pain and urinary tract infections. Her family history was negative.Clinical management: Our patient was admitted to hospital due to recurrent abdominal pain...

ba0002p90 | (1) | ICCBH2013

Intravenous pamidronate in the treatment of severe idiopathic infantile hypercalcemia

Skalova Sylva , Kutilek Stepan , Cerna Lucie , Bayer Milan , Schlingmann Karl-Peter , Konrad Martin

Background: Idiopathic infantile hypercalcemia (IIH) is a rare disorder caused by CYP24A1 loss-of-function mutation, resulting in impaired degradation of 1,25-dihydroxyvitamin D3. Typical signs include muscle hypotonia, dehydration, failure to thrive, psychomotor retardation, constipation, nephrocalcinosis. IIH should be distinguished from other causes of hypercalcemia in infancy. Treatment includes low calcium diet, glucocorticoids, furosemide, calcitonin. Pamidron...