Biomedical subjects

Sule Unal

Publications and source records attributed to Sule Unal.

6 recordsLinked to original sources

PubMed2006

Fanconi anemia patient with bilaterally hypoplastic scapula and unilateral winging associated with scoliosis and rib abnormality.

Fanconi anemia is an autosomal recessive disease characterized by bone marrow failure, variable congenital physical abnormalities, and predisposition to hematologic malignancy and several solid tumors. The most frequently associated congenital malformations are those of the skeletal system, mainly radius and thumb. Herein, we report bilaterally hypoplastic scapula with unilateral winging associated with scoliosis and rib abnormality, a previously unreported skeletal abnormality in Fanconi anemia patients.

Child↗

PubMed2005

Focal segmental glomerulosclerosis associated with mitochondrial cytopathy: report of two cases with special emphasis on podocytes.

We report two children with focal segmental glomerulosclerosis (FSGS) associated with mitochondrial cytopathy (MC). Case 1 was diagnosed as MC with the findings of ptosis, ophthalmoplegia, failure to thrive, high serum lactate and pyruvate levels, ragged red fibers in muscle biopsy and the common 4.9 kb deletion in mtDNA when she was four years old. She subsequently developed FSGS four years later. Case 2 was a four month-old girl presenting with feeding difficulty from birth, with vomiting, seizures and nystagmoid eye movements, nephrotic proteinuria and hematuria. Renal biopsy revealed FSGS. Ultrastructural study demonstrated markedly pleomorphic mitochondria in podocytes with a severe effacement of foot processes. The analyses of muscle biopsy and skin fibroblasts for respiratory chain enzymes were found to be normal, while mitochondrial DNA analysis revealed the population of a single deleted mtDNA in the heteroplasmic state. The present cases illustrate FSGS as a rare renal complication of mitochondrial disease and provide further evidence of podocytes possessing abnormal mitochondria which may cause glomerular epithelial cell damage leading to glomerulosclerosis.

Child↗

PubMed2005

The neurologic complications in pediatric acute lymphoblastic leukemia patients excluding leukemic infiltration.

This study presents retrospective analyses of 20 acute lymphoblastic leukemia (ALL) patients who developed neurologic complications (except leukemic infiltration). These subjects represent 9.9% of 203 ALL patients aged 16 years or younger followed in our hospital between March 1991 and January 2003. Fourteen male and six female patients, whose ages ranged between 6 and 168 months, developed 24 episodes of neurologic complications after the diagnosis of ALL. The most common complication was meningitis, which developed in six (25%) episodes, and two thirds of the patients who had meningitis were evaluated to be iatrogenic. Cerebral infarct and venous thrombosis were detected in five (21%) of the episodes. In two (8%) episodes progressive cerebral dysfunction developed after radiotherapy. The remaining 11 (45%) episodes are due to varying types of complications. Interestingly, one patient had abundant histiocytes exhibiting hemophagocytosis in the cerebrospinal fluid (CSF) examination and this patient was subsequently diagnosed with fungal meningoencephalitis, by further investigation. Six (30%) patients died; epilepsia developed in five (25%) patients in the follow-up period and the remaining nine (45%) are healthy. By close follow-up and effective treatment of thrombosis and, especially, of infections including iatrogenic meningitis in developing countries, the morbidities and mortalities of these complications can be decreased.

Adolescent↗

PubMed2005

Four-month-old infant with focal segmental glomerulosclerosis and mitochondrial DNA deletion.

Mitochondrial cytopathies are a group of heterogeneous disorders characterized by multisystem involvement. Renal involvement in mitochondrial cytopathies is usually manifested as tubular dysfunction owing to impaired energy metabolism; however, a few cases with glomerular changes have also been reported. Herein we report the case of a 4-month-old Turkish girl with a mitochondrial DNA deletion and focal segmental glomerulosclerosis.

DNA↗

PubMed2005

Answer to hypotonia: a simple hemogram.

A 1-year-old boy with weight loss, decreased activity, and psychomotor regression is presented. He was subjected to an extremely detailed evaluation, including electroencephalography (EEG) and magnetic resonance imaging (MRI), until a simple hemogram in our center revealed that he had macrocytic anemia with megaloblastic changes in the bone marrow. His history revealed that he had been exclusively breast-fed by his vegetarian mother. Further investigations showed low serum vitamin B12 concentration, methylmalonic aciduria, and homocysteinemia, indicating that the macrocytic anemia was due to vitamin B12 deficiency. This boy represents a case of macrocytic anemia and hypotonia owing to vitamin B12 deficiency that developed because of exclusive breast-feeding by a vegetarian mother.

Anemia, Macrocytic↗

PubMedDate not supplied

Autoimmune thrombocytopenic purpura after mumps infection.

Autoimmune thrombocytopenic purpura is estimated to be one of the most common acquired bleeding disorders of children. The pathogenesis involves the generation of autoantibodies against the normally expressed glycoproteins on the platelet membranes. These antibody-coated platelets in turn are destroyed by the spleen and other reticuloendothelial organs. Although the disease can occur without an identifiable etiology, many underlying pathologies, including infections, can be found. We report the mumps virus as a rare etiology of secondary autoimmune thrombocytopenic purpura.

Female↗