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Biomedical subjects

B Anlar

Publications and source records attributed to B Anlar.

At least 19 recordsLinked to original sources
PubMed2006

Further clinical and genetic characterization of SPG11: hereditary spastic paraplegia with thin corpus callosum.

Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative disorders leading to progressive spasticity of the lower limbs. Clinically, HSPs are divided into "pure" and "complicated" forms. In pure HSP, the spasticity of the lower limbs is the sole symptom, whereas in complicated forms additional neurological and non-neurological features are observed. Genetically, HSPs are divided into autosomal dominant (AD), autosomal recessive (AR) and X-linked (XL) forms. Up to date, 30 different HSPs are linked to different chromosomal loci and 11 genes could be defined for AR-HSP, AD-HSP and XL-HSP. SPG11, an AR-HSP (synonym: HSP11), is a complicated HSP associated with a slowly progressive spastic paraparesis, mental impairment and the development of a thin corpus callosum (TCC) during the course of the disease. SPG11 has been previously linked to chromosomal region 15q13 - 15. First, we applied rigid diagnostic criteria to systematically examine 20 Turkish families with autosomal recessive HSP for characteristic features of SPG11. We detected four large Turkish families with AR-HSP and TCC consistent with SPG11. Subsequent genetic linkage analysis of those 4 families refines the SPG11 locus further down to a small region of 2.93 cM with a maximum lod score of 11.84 at marker D15S659 and will guide further candidate gene analysis.

Adolescent↗
PubMed2004

Diffusion-weighted imaging findings in juvenile metachromatic leukodystrophy.

Magnetic resonance (MR) imaging has an important role in the diagnosis of metachromatic leukodystrophy (MLD). We report diffusion-weighted MR imaging (DWI) findings of four cases of juvenile type MLD. DWI showed restricted diffusion lines with greater areas of increased diffusion in three patients and widespread increased diffusion in one patient. This variability in DWI findings can be related to the histological stage of the disease at the time of imaging, ranging from intracellular metachromatic material accumulation to breakdown of myelin membranes.

Brain↗
PubMed2004

Beta-sarcoglycan gene mutations in Turkey.

The term limb-girdle muscular dystrophy (LGMD) refers to a group of muscular dystrophies that, at the outset, affect primarily the muscles of the hip and shoulder girdle. Limb-girdle muscular dystrophy is genetically heterogeneous comprising autosomal dominant (types LGMD 1A-1E) as well as autosomal recessive forms (types LGMD 2A-2J known). A subgroup among the autosomal recessive forms comprises the sarcoglycanopathies (LGMD2C-2F), caused by mutations in the gamma (gamma-SG), alpha (alpha-SG), beta (beta-SG) and delta (delta-SG) sarcoglycan genes, respectively. The sarcoglycans form the sarcoglycan complex, part of the dystrophin-associated glycoproteins. Mutations in the beta-SG gene causes LGMD2E. Disease severity, in this form, varies from mild to severe phenotypes depending on the individual mutation. Homozygous missense mutations in critical locations may result in the total absence of alpha-, beta- and gamma-sarcoglycan from the muscle membrane and a phenotype as severe as null mutations. In the present study, through screening 80 unrelated LGMD2 families, we identified 13 families with LGMD2E. Mutations in the beta-SG gene were identified in 12 patients from nine families. One of these patients carried a previously reported truncating mutation (Q11X), while the other 11 carried novel missense/rameshift mutations (M1L, V89M, I92T, I92S, 739insA), some of which were seen in more than one patient and may, therefore, be more common in the Turkish population.

Adolescent↗
PubMed2003

Apoptosis in the developing human brain: a preliminary study of the frontal region.

BACKGROUND: Natural cell death due to apoptotic mechanisms has been described in various species. Relatively few studies examined this process in humans. AIM: To investigate the distribution of apoptosis in fetal brain tissue. DESIGN: We examined apoptosis in the frontal region of human fetal brain by the TUNEL method in nine fetuses with no neurological conditions, gestational age 14-26 weeks, and three fetuses with structural anomalies of the nervous system (lumbar meningomyeloceles, n=2, hydrocephalus, n=1). RESULTS: In normal fetuses, TUNEL-positive cells were most concentrated in the intermediate zone (IZ) and between 18 and 22 weeks of gestation; cortical apoptosis was not prominent. The fetus with hydrocephalus had increased numbers of TUNEL-positive cells while those with neural tube defects did not differ from normals. CONCLUSION: The definition of normally occurring apoptosis may provide a basis for further studies directed at central nervous system (CNS) malformations.

Apoptosis↗
PubMed2003

Acute disseminated encephalomyelitis in children: outcome and prognosis.

BACKGROUND: Acute disseminated encephalomyelitis (ADEM) is the most common demyelinating disorder of childhood. Its clinical features, prognosis and treatment vary in different reports. OBJECTIVES: To examine a series of children with ADEM for clinical findings, course, recurrences, and possible variables affecting outcome. METHODS: Multicentric data collected from 7 tertiary referral centers were registered and evaluated in a central database in 1990 - 2001 for clinical, laboratory, and MRI features. Course and prognosis were assessed in patients with at least 12 months' follow-up. RESULTS: Forty-six patients were evaluated. Median age at onset was 8 years, M/F ratio, 1.7/1. Most common symptoms and signs pertained to the motor system and consciousness. Of 39 children with 12 months' follow-up, 71 % recovered completely. Thirteen (33 %) children had relapses. Patients who had more than one relapse (n = 4) presented with new symptoms at each attack. Treatment with high-dose methylprednisolone was associated with complete recovery, and tapering over more than 3 weeks, with a lower rate of relapses. MRI lesions could persist even in asymptomatic patients; in particular, periventricular lesions tended to disappear later than others. CONCLUSIONS: Complete clinical recovery is common and serious complications are rare in childhood ADEM, but the rate of relapses is considerable. Clinical picture at first relapse may help to identify patients likely to experience multiple relapses. The timing and duration of steroid treatment affects outcome.

Adolescent↗
PubMed2001

Changing epidemiological features of subacute sclerosing panencephalitis.

BACKGROUND: Subacute sclerosing panencephalitis (SSPE) is a chronic central nervous (CNS) system infection caused by measles virus. Because changing immunization practices affect the epidemiology of measles and consequently SSPE, we examined the epidemiological data of our SSPE registry. MATERIALS AND METHODS: Age of onset, age at onset of measles, duration of Latent period and immunization status were examined in cases recorded at the SSPE Registry Center in Turkey between 1975 and 1999. RESULTS: Age of onset diminished from 13 years before 1994 to 7.6 years after 1995; age at onset of measles declined from 29 months to 20 months and the Latent interval from 9.9 years to 5.9 years. Age at onset of measles and immunization status did not directly affect the duration of the Latent period. CONCLUSION: Although its incidence has decreased in Turkey, SSPE has been seen at younger ages in recent years. This change cannot be attributed solely to younger age at onset of measles. Factors affecting the duration of the Latent period should be investigated further.

Adolescent↗
PubMed2001

Cremasteric reflex and retraction of a testis.

PURPOSE: A clinical study has been planned to define the clinical characteristics of cremasteric reflex (CR) for deciding on the possibility of a prolonged suprascrotal stay of a testis through this reflex. METHODS: Five hundred boys from 3 days to 16 years of age were divided into 6 groups according to their ages and were evaluated for the presence of the CR. After evoking CR, the presence or absence of changes in testicular location and the most elevated position of the testis were recorded. Testicular position difference (TPD), the duration of the stay of testis in the most elevated position (DEP), and the interval for reevoking the CR (IRCR) were determined. The number of consecutive responses after repetitive evokings were recorded as reproducibility (R). Mean TPD, DEP, IRCR, and R values for both sides were calculated and compared among groups. The boys with a positive reflex were classified further according to their TPD, DEP, IRCR, and R values. Three groups were established according to the aforementioned criteria by dividing the values into 3 equal parts. The association of each of the parameters to other parameters were compared. RESULTS: Bilateral positive CR was encountered in 42.7% of newborns, 36.3% of the boys between 1 month and 1 year old, 38.1% of the boys between 2 years and 4 years old, 75.2% of the boys between 5 years and 8 years old, 70.3% of the boys between 9 years and 12 years old, and 72.1% of the boys between 13 and 16 years old. The highest percentage of the contralateral activations during ipsilateral evokings were encountered in boys who were between 5 and 8 years of age. The highest mean TPD and mean R, the longest mean DEP, and mean IRCR were encountered in boys between 5 and 8 years of age. Boys with the highest TPD did not have shortest IRCR and highest R values. Similarly, boys with the longest DEP or shortest IRCR and highest R values did not have the association of other parameters that would suggest a hypersensitivity. CONCLUSIONS: The rate of presence and the characteristics of a positive CR vary largely. However, suprascrotal location of a testis for extended periods through the activation of this reflex does not seem to be likely. Instead of a hyperactive reflex, the clinical condition, so called the retractile testis, might have resulted through alterations within the cremaster muscle itself. J Pediatr Surg 36:863-867.

Adolescent↗
PubMed2001

Tumor necrosis factor-alpha gene polymorphisms in children with multiple sclerosis.

Tumor necrosis factor-alpha (TNF-alpha) is a cytokine implicated in the pathogenesis of infectious and autoimmune disorders including multiple sclerosis (MS). Childhood-onset MS presents some clinical and laboratory features differing from adult disease. We studied TNF-alpha - 238 G-->A and - 308 G-->A polymorphisms in 24 patients with childhood-onset MS using PCR-RFLP and compared them with healthy control subjects from the same population (n = 93). The genotypes and allele frequencies were not different between patient and control groups (p = 0.348, 95 %CI, 0.28 - 1.92, chi(2) = 0.10 and p = 0.797, 95 %CI, 0.312 - 2.285, chi(2) = 0.20 for - 238 and - 308 alleles, respectively). Although the size of the study group is small, these results do not support a role for TNF-alpha gene polymorphisms in susceptibility to MS in children.

Adolescent↗
PubMed2001

Functional magnetic resonance imaging in children with Asperger's syndrome.

Asperger's syndrome is a pervasive developmental disorder of unknown etiology. We evaluated children with this syndrome (n = 9) and control (n = 8) children by functional magnetic resonance imaging (MRI) during a task involving social judgment. All control and 5 of 9 subjects with Asperger's syndrome showed signal intensity changes in frontal regions. Four patients with Asperger's syndrome, including one case with right frontal dysplasia, had no signal intensity change during the task. In this first functional MRI study of childhood Asperger's syndrome, frontal activation patterns demonstrated some differences between patients and normal subjects. Further studies using other functions frequently impaired in Asperger's syndrome are warranted.

Adolescent↗
PubMed2001

Interleukin-1beta, interleukin-1 receptor antagonist levels in patients with subacute sclerosing panencephalitis and the effects of different treatment protocols.

Subacute sclerosing panencephalitis is a rare progressive inflammatory disease of the central nervous system caused by a persistent aberrant measles virus infection. Cytokines are polypeptides that regulate immune responses and inflammatory reactions. Interleukin-1beta has been implicated as a central mediator of tissue damage and destruction in a number of central nervous system diseases. Interleukin-1 receptor antagonist could function as an important anti-inflammatory cytokine. We studied interleukin-1beta and interleukin-1 receptor antagonist levels in the cerebrospinal fluids of patients with subacute sclerosing panencephalitis and evaluated the effects of different treatment protocols on these cytokines. Interleukin-1beta and interleukin-1 receptor antagonist levels were measured in 15 patients who had a recent diagnosis of subacute sclerosing panencephalitis (group 1), 6 patients who had been treated with isoprinosine (group 2), 5 patients with intraventricular interferon-alpha (group 3), and 6 patients with interferon-beta (group 4). The results were compared within the groups and also with the results of 10 patients with other neurologic disease (group 5). The interleukin-1beta concentrations in cerebrospinal fluid and sera were all below the detection limits (3.9 pg/mL). Interleukin-1 receptor antagonist levels were not statistically different, except for the group treated with intraventricular interferon-alpha. Interleukin-1 receptor antagonist levels were 170 +/- 52, 175 +/- 58, 1605 +/- 518, 77.5 +/- 24, and 108 +/- 18 pg/mL in groups 1 to 5, respectively. Interleukin-1 receptor antagonist levels and cerebrospinal fluid serum ratios were significantly increased during interferon-alpha treatment. In conclusion, interleukin-1 and interleukin-1 receptor antagonist levels were not elevated in the patients with subacute sclerosing panencephalitis. The only treatment protocol that affects interleukin-1 receptor antagonist levels in cerebrospinal fluid was intraventricular interferon-alpha. Further studies on higher numbers of patients may better document the immunologic status of patients with subacute sclerosing panencephalitis and the effects of different treatment modes.

Administration, Oral↗
PubMed2001

Optic neuropathy in primary antiphospholipid syndrome in childhood.

Neurologic symptoms associated with antiphospholipid antibodies in children include thrombotic events, unilateral movement disorders, or migraine. We present a 7-year-old girl with bilateral optic neuropathy, cerebral white-matter lesions, and antiphospholipid IgM that responded to prednisone and tended to relapse when it was stopped. Remission was obtained under maintenance corticosteroid therapy, and the antiphospholipid antibodies disappeared. This case suggests a role for antiphospholipid antibodies in the pathogenesis of optic neuropathy in childhood.

Antiphospholipid Syndrome↗
PubMed2001

Tissue inflammatory response in subacute sclerosing panencephalitis (SSPE).

The pattern of inflammatory infiltration was studied in the frontal brain biopsies of 28 cases with subacute sclerosing panencephalitis (SSPE) by immunohistochemistry. Lymphocytic infiltration and gliosis were common pathologic findings. CD4+ T lymphocytes were often observed in perivascular areas and CD8+ lymphocytes in the parenchyma. B lymphocytes were located in large perivascular cuffs associated with longer and slower disease. Major histocompatibility complex antigens, interferon-gamma, and tumor necrosis factor-alpha (TNF-alpha) were expressed in endothelial and glial cells. The inflammatory lesions in subacute sclerosing panencephalitis consist of various cell subtypes and cytokines localized in particular areas of the brain tissue and show certain associations with clinical course.

Adolescent↗
PubMed2001

Transient intrauterine hypotension: effect on newborn rat brain.

Intrauterine perfusion failure can cause cerebral malformations. We investigated the effect of transient maternal hypotension on newborn rat brain by inducing hypovolemic hypotension for 2.5 h during early embryonic day 7 (E7) or late (E15) gestation in pregnant rats. We found an increase in the number of TUNEL-positive cells within the periventricular germinative matrix in pups subjected to early gestational hypotension and within the cerebral cortex in those subjected to late gestational hypotension in comparison to sham control animals. These results suggest that episodic maternal hypovolemic hypotension may affect the fetal brain, and apoptotic mechanisms may mediate this effect.

Animals↗
PubMed1999

A case of relapsing acute disseminated encephalomyelitis with high dose corticosteroid treatment.

We report a 16-month-old boy with acute disseminated encephalomyelitis (ADEM) who had an early relapse despite prompt treatment with high dose methylprednisolone. The second episode responded to intravenous immunoglobulin (IVIg). This case illustrates the probability of relapses or treatment failures in ADEM after steroid treatment, and the use of alternative drugs.

Encephalomyelitis, Acute Disseminated↗