Biomedical subjects

H Gumus

Publications and source records attributed to H Gumus.

3 recordsLinked to original sources

PubMed2004

Joubert syndrome: review and report of seven new cases.

Joubert syndrome (JS) is an autosomal-recessive disorder, characterized by hypotonia, ataxia, global developmental delay and molar tooth sign on magnetic resonance imaging. A variety of other abnormalities have been described in children with JS, including abnormal breathing, abnormal eye movements, a characteristic facial appearance, delayed language, hypersensitivity to noise, autism, ocular and oculomotor abnormalities, meningoencephaloceles, microcephaly, low-set ears, polydactyly, retinal dysplasia, kidney abnormalities (renal cysts), soft tissue tumor of the tongue, liver disease and duodenal atresia. Even within siblings the phenotype may vary, making it difficult to establish the exact clinical diagnostic boundaries of JS. We review the clinical characteristics of seven cases that fulfill the criteria of JS.

Abnormalities, Multiple↗

PubMed1999

Quantitation of Doppler color flow jet areas for mitral regurgitation in children: angiographic correlation.

Eighteen patients with chronic isolated rheumatic mitral regurgitation aged between 7 and 19 years (mean age +/-SD, 12.69+/-3.47 years) were analyzed with color Doppler imaging. Sixteen patients were performed cardiac catheterization within 24 h. Jets were classified as eccentric and central. Regurgitant jet area and its ratio to left atrial area and body surface area were measured by Doppler color flow imaging. Regurgitant volume and regurgitant fractions were calculated with angiography. There was a good correlation between regurgitant jet area and angiographic grade of mitral regurgitation (P<0.01). The correlation between regurgitant jet area/left atrial area ratios and angiographic grade of mitral regurgitation was limited (P<0.01). There was excellent correlation between regurgitant jet area/body surface area and angiographic regurgitant fraction (r = 0.85; P<0.001). There was also a good correlation between regurgitant jet area and regurgitant fraction (r = 0.82; P<0.001). However, the relation of regurgitant jet area/left atrial area to regurgitant fraction was weak (r = 0.72; P<0.01). In conclusion, the measurement of regurgitant fraction and its ratios to left atrial area and body surface area by color Doppler flow imaging can predict the angiographic severity in children who have even eccentric regurgitant jets.

Adolescent↗

PubMedDate not supplied

Intussusception in adults.

To review clinical, radiological and histopathological findings of adult intussusception and its management, 18 adult patients who had been treated surgically because of intussusception were reviewed. Of the patients, 5 (27.8%) had idiopathic intussusceptions, while the other 13 (72.2%) had a definable intraluminal pathology. The site of the intussusception was more common in the small bowel (83.3%) than the colon (16.7%). Ultrasonography and computed tomography were successful in demonstrating "target lesion" in 80% and 75% respectively. Patients with idiopathic intussusception were treated with simple reduction, while the others underwent segmental resection because of the possibility of malignant tumour. In contrast to intussusception in childhood, intussusception in adults usually has a definable lead point and resection of the involved bowel, rather than simple reduction, is indicated.

Adolescent↗