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Biomedical subjects

S Kutílek

Publications and source records attributed to S Kutílek.

18 recordsLinked to original sources
PubMed2001

Ultrasound parameters of calcaneal bone density in girls with anorexia nervosa.

Osteoporosis is common in patients with anorexia nervosa (AN), but ultrasound has so far been scarcely used to detect it We measured calcaneal broadband ultrasound attenuation (BUA) and velocity of sound (VOS) in 26 AN girls (mean age 15.1+/- 1.5 years) using a Cuba Clinical device (McCue Ultrasonics, UK). Basic anthropometric (body weight, height and body mass index--BMI) and clinical data (mean duration of AN, number of absent cycles, weight loss) were collected. All of the girls reported that they did at least one hour's vigorous exercise a day. BUA was significantly lower (p<0.004) and VOS significantly higher (p<0.0001) in comparison with reference data. Body weight and BMI at the time of the measurements were significantly lower than the reference data (p<0.0001). There were no correlations between body weight or height and BUA or VOS, but there was a slight correlation between BUA and BMI (r=0.4, p<0.05) and a slight inverse correlation between VOS, body weight and BMI (r=-0.48 and r=-0.43, p<0.01). VOS slightly correlated with weight loss (r=0.4, p<0.05), significantly with the weekly number of exercise hours (r=0.48, p<0.01). The duration of AN, the number of missed cycles and the percentage of weight loss did not correlate with BUA, and neither the duration of AN nor the number of missed cycles correlated with VOS. The low BUA value could be attributed to poor nutrition, and substantial physical activity may lead to the increase in VOS. In conclusion, girls with AN have low BUA and high VOS values, neither of which correlate with the duration of AN or the number of missed cycles.

Adolescent↗
PubMed2001

Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects.

Inherited defects of skull ossification often manifest as symmetric parietal foramina (PFM; MIM 168500). We previously identified mutations of MSX2 in non-syndromic PFM and demonstrated genetic heterogeneity. Deletions of 11p11-p12 (proximal 11p deletion syndrome, P11pDS; MIM 601224) are characterized by multiple exostoses, attributable to haploinsufficiency of EXT2 and PFM. Here we identify ALX4, which encodes a paired-related homeodomain transcription factor, as the PFM disease gene in P11pDS.

Animals↗
PubMed1997

Ultrasound transmission through the Os calcis in children: which side should we measure?

Ultrasound measurement of the os calcis is a promising technique when evaluating bone status. Large individual differences between the right and left calcaneus in adults were reported. In this study, calcaneal acoustic parameters in 373 healthy children and adolescents were investigated using a CUBAClinical bone densitometer. No significant difference was found between mean values on the right and left foot, however, individual difference in broadband ultrasound attenuation was 11 +/- 9.25%. Individual differences between both sides in ultrasound investigation of the os calcis should not be underscored either in adults or in children.

Adolescent↗
PubMed1996

[Magnesium, its role and metabolism].

Magnesium (Mg) is the fourth most abundant cation in the human body and is second only to potassium in intracellular metabolism. Magnesium deficiency results in biochemical, neuromuscular and cardiovascular changes. This review deals with both normal and abnormal Mg metabolism.

Humans↗
PubMed1994

Juvenile chronic arthritis--bone mineral density in relation to corticosteroid therapy.

Bone demineralization often accompanies juvenile chronic arthritis (JCA). Fourteen patients with confirmed diagnosis of JCA had their bone mineral density (BMD) measured with the use of dual photon X-ray absorptiometry. The results obtained were compared to the Lunar BMD DPXA standards. Seven patients received Prednisone in doses of more than 0.16 mg/kg/day for more than 6 months and 7 patients (sex and age matched) never received any steroids at all. In the first group BMD was decreased in 7 patients (100%), in the second group BMD was mildly decreased in 2 patients (28%). Due to the difference in BMD in both groups, it is obvious that corticosteroids have substantial influence on bone demineralization in JCA.

Adolescent↗
PubMed1994

Calciuria in children with juvenile chronic arthritis.

Demineralization of bone is a frequent finding in children with juvenile chronic arthritis (JCA). Recently there have been reports about hypercalciuria accompanying JCA. This is believed to be associated with increased bone resorption due to cytokines and immobility of the patients and steroid treatment. In 12 patients with confirmed diagnosis of JCA basic biochemical indices of bone metabolism, were performed (S-Ca, P, ALP, U-Ca/U-creatinine, U-P). Bone mineral density (BMD) was measured using DPXA method and results obtained were compared to the Lunar BMD DPXA standards. In spite of decreased BMD, no significant hypercalciuria was found and other mentioned biochemical indices of bone and mineral metabolism were normal as well.

Adolescent↗
PubMed1994

Bone and mineral metabolism in transient hyperphosphatasaemia.

Transient hyperphosphatasaemia (TH) is a benign disorder characterized by transient elevation of S-ALP activity not exceeding duration of 4 months in children under 5 years of age, with elevated activity of bone isoenzymes of ALP with no signs of bone or liver disease and variable unrelated symptoms. We observed 19 children with TH and in 3 patients with markedly elevated S-ALP activity we found increased excretion of urinary hydroxyproline, suggesting increased bone resorption followed by bone formation. In 3 children with history of TH, bone mineral density (BMD) was measured and found to be normal. Transient increased bone resorption followed by bone formation during the course of TH can not be ruled out, but this has no negative impact on BMD.

Alkaline Phosphatase↗
PubMed1994

Two cases of pseudohypoparathyroidism in adolescent boys.

Pseudohypoparathyroidism (PHP) is characterized by end organ resistance to parathyroid hormone (PTH). PHP type Ia consists of Albright's osteodystrophy and resistance to PTH. In PHP type Ib physical appearance is normal and there is no response to PTH in U-cAMP excretion. In PHP type II both physical appearance and U-cAMP response to PTH infusion are normal. Two adolescent patients with severe hypocalcaemia were treated in our department. The first boy was admitted because of low back pain, latent tetany and recurrent collapsing, the second one due to Grand mal epilepsia. S-Ca concentrations were very low (1.1 and 1.03 mmol/l respectively), CT of the brain revealed multiple calcifications in basal ganglia and S-PTH concentrations were above upper reference level. Therefore the diagnosis of PHP was established. In the absence of skeletal malformations the most probable diagnosis is PHP Ib or II. Clinical state of the boys has dramatically improved after calcium and vitamin D supplementation.

Adolescent↗
PubMed1990

[Idiopathic infantile hypercalcemia].

Idiopathic infantile hypercalcaemia is a rare state characterized by failure to thrive, anorexia, vomiting, constipation and psychomotor retardation. We report a case of an infant with this syndrome.

Calcium↗
PubMedDate not supplied

Transient hyperphosphatasemia--where do we stand?

Transient hyperphosphatasemia of infancy and early childhood (THI) is characterized by transiently increased serum activity of alkaline phosphatase (S-ALP), predominantly its bone or liver isoform, in children under five years of age. There are no signs of metabolic bone disease or hepatopathy corresponding with the increased SALP, nor is there a disease common to all children with THI. To date, THI has been reported in more than 400 children. Viral etiology of THI has been proposed; transiently increased bone turnover and impaired clearance of ALP from the serum were originally considered as its causes. The pathogenesis is most probably multifactorial. THI is a benign disorder, as prospective follow-up of children with a history of TH revealed normal growth and normal bone density. Children with TH should be spared from excessive diagnostic procedures.

Alkaline Phosphatase↗
PubMedDate not supplied

Pseudohypoparathyroidism type IA and II with severe neuropsychic manifestations.

Pseudohypoparathyroidism (PHP) is characterized by unresponsiveness of target tissues to the biological actions of the parathyroid hormone (PTH), with resulting hypocalcemia and hyperphosphatemia, despite the elevated serum levels of PTH. PHP is divided into types Ia, b, c and II, depending on the presence of Albright's hereditary osteodystrophy (AHO), defective urinary excretion of phosphate (U-P) and response in urinary excretion of cyclic adenosine monophosphate (U-cAMP) after the administration of exogenous PTH. Patients with PHP might exhibit various manifestations of neuropsychic disturbances. We present two boys, aged 14 and 16 years, both with paresthesia, anxiety and epilepsy; the former patient also suffered from mild mental retardation. In both patients, hypocalcemia and hyperphosphatemia together with increased serum levels of PTH suggested the diagnosis of PHP. After administration of exogenous PTH (Ellsworth-Howard test), there was a drop in U-P in both patients, while U-cAMP was decreased in the first patient and increased in the second one, thus confirming the diagnoses of PHP Ia and II, respectively. Neuropsychic disturbances and epilepsy resolved completely in both patients after treatment with calcium and dihydrotachysterol. Evaluation of calcemia and phosphatemia should be mandatory in all patients with neuropsychic disorders. Ellsworth-Howard test remains a useful tool in the differential diagnosis of PHP.

Adolescent↗