Sabina Terzić | PubMed Health

PubMed2006

[Fryns syndrome].

Fryns syndrome is an extremely rare developmental disorder associated with deletion of long arm of chromosome 16. Characteristics of the Fyns syndrome are: craniofacial dysmorfism, diaphragmatic defects with lung hypoplasia, distal digital hypoplasia, brain and urogenital abnormalities and other developmental disturbances. After the first description in two stillborn sisters by Fryns (1971), new reports appeared with descriptions included disorders which have not described previously. We described a case of female live born with deletion of long arm of chromosome 16. Our patient had a typical craniofacial dysmorfism, brain abnormalities (Dandy Walker malformation), cardiac defects (artial septal defect and persistent ductus arteriosus), renal hypoplasia, gastrointestinal problems, hypotonia and feeding difficulties. Our patient had no diaphragmatic hernia and he survived neonatal period with severe neurological impairment.

Abnormalities, Multiple↗

PubMed2002

[Monitoring oxygen saturation in the pediatric population].

Pulsoxymetry is noninvasive technique which is in use for percentage estimation of hemoglobin saturation of oxygen in arterial blood. It represents a therapeutical screening of treatment in paediatric population. The aim of this retrospective study is to evaluate the validity of noninvasive technique for determination of oxygen concentration in cardiac and pulomological patients. The study included 221 patients, with a mean age of 39 months (1.5-192) who were hospitalised during the period of 1.6.2000. till 31.12.2002. at Pulmoalergology and Cardiorheumatology department of Paediatric clinic CCU Sarajevo. Three groups of patients were evaluated: first one, which included 194/221 patients with obstructive and inflammatory lung diseases, 17/221 patients formed II group of pts with congenital heart anomalies (CHA) and the third one which had 10/221 patients with CHA associated with lung diseases. In all patients the diagnostic-laboratory investigations were done including transcutaneous determination of oxygen saturation by pulsoxyimetry (PO) Nellcor and Johnson-Johnson, as well as capillary, with adequate treatment. The mean oxygen saturation (OS) in the first group of patients at admission by PO was 86%, capillary 73.6%, and after treatment OS PO was 91.6%. In the II group the mean OS at admission was 88.5% PO, capillary 83%, after treatment 94.9%. The mean OS at admission in third patient's group was 76%, and after treatment 91.2% which is statistically significant (F = 0.03) and is in concordance with modern therapeutical approach. Pulseoxymetry is noninvasive, painless, simple method which offers a valid continuous data needed for the adequate choice of treatment in paediatric patients.

Blood Gas Monitoring, Transcutaneous↗