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Biomedical subjects

Bengt O Eriksson

Publications and source records attributed to Bengt O Eriksson.

7 recordsLinked to original sources
PubMed2004

Presenting phenotype in 100 children with the 22q11 deletion syndrome.

UNLABELLED: The aim of this study was to investigate and describe the presenting phenotype of children with the 22q11 deletion syndrome and to describe common clinical features that could serve as guidelines in the clinical diagnostic process preceding genetic testing. A hospital-based study of 100 consecutive children and adolescents with 22q11 deletion was initiated. The patients were divided into two groups according to age at diagnosis: before or after 2 years of age. Clinical features were grouped into a core set of eight features: cardiac defects, non-visible/hypoplastic thymus or infection problems, hypocalcaemia, feeding difficulties, cleft palate/speech-language impairment, developmental delay/learning difficulties, characteristic dysmorphic features and other malformations and deformities. The median age at diagnosis was 6.7 years. Of all patients, 26% were diagnosed in infancy and 92% had a congenital cardiac defect, whereas 54% of those diagnosed later had a cardiac defect. A cleft palate was present in 25 cases and 44 had some other malformation or deformity. All presented with a combination of many of the core features. Of those diagnosed after 2 years of age, the majority presented with speech-language impairment, developmental delay or learning difficulties and recurrent infections. Characteristic mild dysmorphic features were noticed in all children. CONCLUSION: In spite of variable clinical expression, children with 22q11 deletion share a number of major features and have a characteristic phenotype. A high proportion have no cardiac defect and hence a risk of diagnostic delay. Increased awareness and knowledge among general paediatricians and other specialists who meet these children early in life is needed to reduce the diagnostic delay.

Abnormalities, Multiple↗
PubMed2004

Pulmonary gas exchange during exercise in Fontan patients at a long-term follow-up.

UNLABELLED: Desaturation during exercise in the Fontan type of circulation may be due to known right-to-left shunts in some patients, while in others there are no obvious signs of shunts. AIM: To evaluate the gas exchange and exercise capacity in patients with Fontan circulation. MATERIAL AND METHODS: Twenty patients with the Fontan type of circulation, median age at operation 7.5 years (3.0-35 years), follow-up time 12.1 years (8.3-20.4 years), were included. The intrapulmonary gas mixing (N(2)-slope) and diffusion capacity for carbon monoxide (D(LCO)) was evaluated and determination of cardiac output was performed at rest and during exercise with measurements of ventilation, oxygen uptake, respiratory rate, carbon dioxide production and heart rate. Samples for blood gases (P(a)O(2), S(a)O(2)) were obtained at rest and at the end of each work load. RESULTS: The median exercise capacity was 1.47 l min(-1). During exercise, all the patients had an alveolar-arterial oxygen partial pressure difference (P(A-a)O(2)) above 2 SD. Patients with known right-to-left shunts had lower P(a)O(2) and S(a)O(2) values and higher P(A-a)O(2) values both at rest, median 7.5 kPa, 90%, and 7.2 kPa, respectively, and during exercise, median 5.8 kPa, 77% and 10.1 kPa, compared with those with no shunts, median 11.2 kPa, 97% and 4.1, respectively, at rest and 9.7 kPa, 94%, and 6.3 during exercise (P<0.01). No correlation was found between cardiac index, the N(2)-slope or the D(LCO) at rest and the P(a)O(2) and S(a)O(2) at rest or during exercise. CONCLUSION: In patients with the Fontan type of circulation, right-to-left shunts are the major cause of desaturation during exercise.

Adolescent↗
PubMed2003

Decreased lung function and exercise capacity in Fontan patients. A long-term follow-up.

OBJECTIVE: The haemodynamic situation for patients with Fontan circulation is characterized by a reduced, non-pulsatile pulmonary blood flow. To evaluate if this has any impact on lung function and exercise capacity, we studied the surviving 20 patients operated upon at our institution between 1980 and 1991. The median age was 17.5 years, the median follow-up time was 11.5 years. DESIGN: Lung volumes, flow-volume curves, the ventilatory distribution and the diffusion capacity for carbon monoxide were obtained using routine methods. The exercise tests were performed on a bicycle ergometer with determination of ventilation, oxygen uptake, carbon dioxide production, respiratory rate and heart rate. RESULTS: The lung volumes, maximal expiratory flows and diffusion capacity were significantly lower than expected. The median maximal oxygen uptake was 1.39 for the females and 1.63 l/min for the males, corresponding to 25.1 and 25.2 ml/kg/min, respectively. The maximal heart rates varied from 104 to 177 beats/min. All patients reached a respiratory exchange ratio above 1.0. CONCLUSION: Fontan patients have small lungs. They have a markedly reduced exercise capacity and a low maximal heart rate.

Adolescent↗
PubMed2003

Haemodynamic adaptation during exercise in fontan patients at a long-term follow-up.

OBJECTIVE: To assess the haemodynamic regulation at rest and during exercise in Fontan patients at a long-term follow-up. DESIGN: Cardiac output was measured with the dye-dilution technique. We examined 15 out of the surviving 20 patients operated upon in Göteborg between 1980 and 1991. Their mean age was 26.4 years. Four patients had to be excluded due to technical reasons. RESULTS: Median maximal oxygen uptake was 1.47 l/min, corresponding to 21.9 ml/kg/min. Cardiac output was lower than expected at all exercise levels, presumably due to a reduced pulmonary blood flow. The median maximal cardiac output value was 8.0 l/min. Stroke volume index was 33 ml/m (2). The subjects compensated for the reduced cardiac output with an increased arteriovenous oxygen difference. They had a normal increase in arterial blood pressure. This was achieved by an increase in total peripheral resistance. CONCLUSION: The low maximal exercise capacity was due to a reduced cardiac output and a reduced pulmonary blood flow. This was compensated for by an increased arteriovenous oxygen difference

Adaptation, Physiological↗