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Biomedical subjects

S Gögüş

Publications and source records attributed to S Gögüş.

11 recordsLinked to original sources
PubMed2001

Lethal hydrops fetalis due to congenital dyserythropoietic anemia in a newborn: association of a new skeletal abnormality.

Congenital dyserythropoietic anemias (CDAs) are a group of hereditary refractory anemias characterized by ineffective erythropoiesis, typical morphological abnormalities of erythroblasts, a low or no reticulocyte response, hyperbilirubinemia, and splenomegaly. A massive hydropic newborn born with a very severe anemia (Hb 4.8 g/dL), diffuse edema, hepatosplenomegaly, ascites, pulmonary edema and respiratory distress, and shortness and hallux varus deformity of the great toe of the right foot was diagnosed to have congenital dyserythropoietic anemia on the basis of the hematological (macrocytosis, anisopoikilocytosis, fragmented red cells and erythroblastosis in the peripheral blood, and erythroid hyperplasia with erythroblastosis and erythroblasts with double nuclei and thin chromatin bridges connecting these nuclei in the bone marrow) and serological (negative acidified serum lysis test and no agglutination with anti-i antibodies) findings. In this article the seventh case of neonatal congenital dyserythropoietic anemia presenting with a very severe (lethal) form of hydrops fetalis and a new (hallux varus) deformity of the great toe of the right foot is presented. Congenital dyserythropoietic anemia should be considered in the differential diagnosis of hydrops fetalis presenting with a very severe anemia and a skeletal abnormality of the great toe.

Anemia, Dyserythropoietic, Congenital↗
PubMed1997

Portal vein thrombosis in association with factor V Leiden mutation in a patient with hepatocellular carcinoma.

We report a case of hepatocellular carcinoma associated with portal vein thrombosis. Analysis of whole cellular DNA demonstrated heterozygosity for the factor V Leiden mutation. The patient also had marked protein C deficiency. The presence of the mutation associated with protein C deficiency may increase the risk of thrombosis in this patient with hepatocellular carcinoma.

Carcinoma, Hepatocellular↗
PubMed1993

Intracardiac thrombosis diagnosed by echocardiography in childhood: predisposing and etiological factors.

Eleven cases of intracardiac thrombi caused by different factors including protein-C deficiency are presented for discussion of the etiology and predisposing factors of intracardiac thrombi during infancy and childhood, and to stress the importance of protein-C deficiency as an etiological factor. Thrombi were localised in the left heart in five patients and right heart in five patients. One patient had both-sided thrombi. Four of our patients had dilated cardiomyopathy, one had mitral valve hypoplasia, and one had pulmonary valvar stenosis as the predisposing factors for thrombus formation. In three patients whose cardiac anatomies were completely normal, we determined protein-C deficiency as an etiological factor of thrombus formation. One of these had congenital protein-C deficiency and the other two had acquired temporary protein-C deficiency due to sepsis. In conclusion we recommend that protein-C deficiency should be investigated as an etiological factor in all cases of intracardiac thrombi irrespective of whether or not another predisposing factor is identified.

Cardiomyopathy, Dilated↗
PubMedDate not supplied

Clinical and histopathological study of merosin-deficient and merosin-positive congenital muscular dystrophy.

The clinical features of merosin-positive congenital muscular dystrophy (CMD) and merosin-deficient CMD are well known, with those of merosin-deficient CMD being more severe. Whether the severity of histopathological findings correlates with these clinical features remains unanswered. In this study, the clinical and histopathological findings of 39 merosin-deficient and 37 merosin-positive CMD patients were compared. Merosin-deficient CMD patients were found to be younger, with earlier onset of symptoms, age of diagnosis, and a more severe clinical state (reflecting maximum motor capacity and contractures). On histopathological evaluation, endomysial fibrosis, perimysial fibrosis, and histopathological state (reflecting fibrosis, adiposis, necrosis, and variation in fiber size) were more severe in merosin-deficient CMD. There was a correlation between clinical and histopathological states only in merosin-deficient CMD.

Adolescent↗
PubMedDate not supplied

Neonatal tuberculosis.

We present an autopsy case of neonatal miliary tuberculosis in a 36-day-old baby that was born to a mother who had no symptoms. Histopathological examination of lungs revealed necrosis and numerous acid-fast bacilli. Mycobacterium tuberculosis hominis was isolated by guinea pig inoculation with lung tissue. Three months after dietary the mother was admitted with pleural effusion and endometrial biopsy showed a granulomatous inflammation compatible with tuberculosis. Intrauterine infection was considered and that was supported by retrospective findings of the endometrial biopsy. We also want to emphasize the importance of searching for genital tuberculosis even if the mother has no symptoms.

Autopsy↗
PubMedDate not supplied

Analysis of delta F508 mutation in cystic fibrosis pathology specimens.

Incidence of delta F508, a severe mutation of the CFTR gene is found to be 36.3% in paraffin block cystic fibrosis liver tissues. Samples are histologically grouped according to severity of pancreatic involvement. Two families where delta F508 was detected postmortem and who have no living children, will have the chance for a prenatal diagnosis in the future pregnancies.

Age Factors↗