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Biomedical subjects

A Pyrkosz

Publications and source records attributed to A Pyrkosz.

6 recordsLinked to original sources
PubMed2003

Quantitative ultrasound of the hand phalanges in patients with genetic disorders: a pilot case-control study.

Skeletal status in subjects with genetic disorders rarely has been a matter of interest, and the risk for osteoporotic fracture in this population is not known. The aim of this study was to estimate ultrasound values in subjects with genetic disorders. In the study 50 patients (36 boys and 14 girls, mean age 11.8 +/- 2.9 years) and 528 healthy controls matched for age and body size (380 boys and 148 girls, mean age 11.9 +/- 2.5 years) were evaluated. Patients with the following disorders were included: Down syndrome, Martin-Bell syndrome, Marfan-Mass phenotype and others. Bone status was assessed by quantitative ultrasound (QUS) of hand phalanges using DBM Sonic 1200 (IGEA, Carpi, Italy), which measures amplitude-dependent speed of sound (Ad-SoS, m/s). Ad-SoS was significantly lower in patients than in controls (in the whole group 1,915 +/- 69 m/s vs. 1,970 +/- 62.0 m/s, P<0.0000001; in males 1,917 +/- 73 m/s vs. 1,972 +/- 63 m/s, P<0.000001; in females 1,910 +/- 58 m/s vs. 1,963 +/- 58 m/s, P<0.01). Ad-SoS correlated significantly with age and body size (except for Ad-SoS with age in female patients). In all subgroups of patients (except for the subjects with Marfan-Mass syndrome) Ad-SoS values were significantly lower than in controls. In a multiple, stepwise regression analysis of Ad-SoS on age and body size, in the whole group of patients age and height had significant influence on Ad-SoS, and in controls age, height and weight. In conclusion, the study shows significantly lower phalangeal ultrasound values in subjects with different genetic disorders compared to normal healthy persons.

Adolescent↗
PubMed2002

Spondylothoracic dysostosis associated with diaphragmatic hernia and camptodactyly.

We present a case of a female newborn with a combination of congenital diaphragmatic hernia, skeletal defects, craniofacial dysmorphism, dextrocardia and persistent ductus arteriosus, and normal female karyotype. History of family and pregnancy-labour were non-contributory. The findings in the present patient are most compatible with the diagnosis of a spondylothoracic dysostosis with a set of uncommon anomalies.

Abnormalities, Multiple↗
PubMed1989

[Evaluation of the results of the treatment of infections in newborn infants with developmental anomalies of the facial bones].

A clinical course and the results of treatment of infections in 53 neonates with visceral cranium defects are discussed. The analysis included the type of defect, immunity and the causes of therapeutical failures. Developmental defects of other organs coexisted with visceral Cranium defects in 45% of the neonates. High incidence of aspiration pneumonia (in 57%) with unfavourable prognosis (40%) was observed despite an intensive respiratory therapy including assisted ventilation. Therapeutical failures were caused by the coexistence of other developmental anomalies (found in 80% od deceased neonates) and low body weight at birth (35% of deaths). No immunological disorders were found except sporadic deficit of immunoglobulins and T-cells. Prophylaxis is of utmost importance. It includes: early orthodontic correction and introduction of the appropriate feeding technique at the neonatal wards.

Cleft Palate↗
PubMed1988

[Apert syndrome].

Explore the source record for details and available documents.

Acrocephalosyndactylia↗
PubMedDate not supplied

Cardiac manifestations of carbohydrate-deficient glycoprotein syndrome.

A 2-month-old girl with exudative pericarditis and hypertrophic obstructive cardiomyopathy is presented. The child had characteristic dysmorphic features of carbohydrate-deficient glycoprotein syndrome, which was confirmed by serum levels of carbohydrate-deficient transferrin.

Cardiomyopathy, Hypertrophic↗