Fulminant hepatic failure as the initial manifestation of primary hepatocellular carcinoma.

A 20-year-old male, with no history of chronic liver disease, presented with fulminant hepatic failure. The cause was not established until post mortem when it was found that he had a primary hepatocellular carcinoma in a non-cirrhotic liver. To our knowledge, this is the third report of hepatocellular carcinoma presenting in this manner.

Brucella disc infection mimicking lumbar disc herniation: a case report.

Brucellosis is a zoonotic disease and still a major health problem in many geographical areas. In this paper a forty year-old woman with spinal brucellosis associated with epidural abscess formation and mimicking lumbar disc herniation is presented. Compression of spinal nerve root(s) by epidural masses due to brucella disc infection is a rare condition and should be kept in mind in differential diagnosis of lumbar disc herniation.

Bilateral globus pallidus lesions in a patient with Tourette syndrome and related disorders.

Background: The neuroanatomic and pathologic basis of Tourette's syndrome or related disorders such as obsessive-compulsive disorder and attention deficit-hyperactivity disorder remains unknown. Although a substantial body of neuroimaging and other data implicate basal ganglia and some point out specifically the globus pallidus in the etiopathogenesis of these three related disorders, no clear or pathologically significant isolated lesions restricted to this region have yet been demonstrated, with the exception of obsessive-compulsive disorder.

Methods: A seventeen-year-old male case of Tourette syndrome with comorbid obsessive-compulsive disorder, attention deficit-hyperactivity disorder, stuttering and gait disturbance, who had negative family history is presented.

Deletion analysis in Turkish patients with spinal muscular atrophy.

Childhood proximal spinal muscular atrophy (SMA) is an autosomal recessive disorder which presents as a severe, intermediate or mild condition. Here we present the molecular analysis of SMA candidate genes, the survival motor neuron gene (SMN), the neuronal apoptosis inhibitory protein gene (NAIP) and the p44 gene. Deletion frequency rate of these candidate genes is 93% in 106 Turkish SMA patients.

Salivary sialic acid, protein, salivary flow rate, pH, buffering capacity and caries indices in subjects with Down's syndrome.

Objectives: The aim of this study was to compare salivary sialic acid, protein, salivary flow rate, pH and buffering capacity and caries indices between subjects with Down's Syndrome and healthy controls.

Methods: Unstimulated mixed saliva was collected from 26 Down's syndrome subjects and 25 healthy subjects of age range 6-24 years. Total protein was determined by the method of Lowry and total sialic acid using Ehrlich reagent.

Clinical observations in autosomal recessive spastic paraplegia in childhood and further evidence for genetic heterogeneity.

Among our 23 families (32 cases) with autosomal recessive hereditary spastic paraplegia (AR-HSP) all presenting in childhood, 9 families had the "pure" form. Occasional patients with this form had upper extremity hyperreflexia, pes cavus and sphincter disturbances, even at the early stages. Fourteen families were classified as the "complicated" types which manifested with mental retardation and cerebellar abnormalities.

Dental caries and Cariostat test in preschool children.

The aim of this study was to investigate the caries status and susceptibility of children in preschool age. Sixty one children ages between 3 to 5 years (mean age 4.38 +/- 0.

Allele distribution of D5S125, MAP1B5' and D5S679 microsatellite markers in Turkish spinal muscular atrophy families.

Spinal muscular atrophy (SMA) is an autosomal recessive disease and one of the most common genetic causes of death in childhood. The gene for SMA has been mapped to chromosome 5q11.2-13.

Study of 12 mutations in Turkish cystic fibrosis patients.

67 unrelated cystic fibrosis (CF) patients were screened for some of the most common mutations of the CFTR gene. This analysis resulted in the identification of 34.6% of all CF alleles.

Parafalxial empyemas (two cases).

Intracranial infections can locate at anywhere in the brain. Subdural empyemas are the less common type of intracranial infections, and parafalxial localization is seen rare. Findings of intracranial pressure increase developed in a cases who were treated for purulent meningitis.

Allele frequencies of Mp6D-9 and GATT markers in 32 Turkish cystic fibrosis families.

The allele frequency of GATT and Mp6D-9 markers was investigated in 32 cystic fibrosis (CF) families. The GATT6 allele was found to be significantly associated with the delta F508 mutation. The Mp6D-9 allele 2/GATT6 haplotype was the major haplotype of the mutant alleles.

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.

Mutation analysis in Turkish phenylketonuria patients.

Forty-four classical PKU patients have been screened for various mutations. The newly identified IVS 10 splicing mutation was found in 32% of the mutant alleles and comprises 74.5% of the mutations that could be typed: 261arg-gln (6.

Deletion analysis of Duchenne muscular dystrophy.

DNA of 15 patients with Duchenne muscular dystrophy (DMD) were analyzed for deletions within the DMD gene by using recombinant DNA technology. Deletion frequency was 47 percent and six of the deletions occurred in the region of probe 7 + 8. Only one of the deletions was observed in the region of probe 9-7, and no deletions were found in the region of probe 30-1, 30-2 and 47-4 (5b + 6).

Frequency of the IVS-10nt546 mutation in 44 Turkish phenylketonuria patients.

The newly identified point mutation in intron 10 of the phenylalanine hydroxylase gene activates a cryptic splice site and results in an in-frame insertion of nine nucleotides between exons 10 and 11 of the processed transcript. This mutation is observed in association with haplotype 6 of phenylketonuria chromosomes. Since in Turkey, haplotype 6 is observed in 40 percent of mutant phenylketonuria alleles, the aim of this study was to establish the incidence of this particular mutation.

Chronic subdural hematomas (clinical analysis).

In this study 43 diagnosed and operated chronic subdural hematomas events analysed clinically in the Neurosurgical Department of Atatürk University Erzurum, Turkey. 60.4% of the patients were found to be under 60 years of age.