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Beril Talim

Publications and source records attributed to Beril Talim.

At least 19 recordsLinked to original sources
PubMed2007

Prenatal diagnosis of muscle-eye-brain disease.

OBJECTIVES: To present a family in which it was possible to perform prenatal diagnosis for the recessively inherited muscle-eye-brain disease (MEB) using linkage analysis. METHODS: Linkage analysis and direct sequencing of the POMGNT1 gene were carried out in a Turkish MEB family with one affected individual. Fetal DNA was obtained from an ongoing pregnancy by chorionic villus sampling (CVS). RESULTS: Both linkage analysis of the POMGNT1/1p32-p34 region and direct sequencing for the novel familial mutation (R605H) demonstrated that the fetus did not have MEB. CONCLUSION: We report the first case of prenatal diagnosis in MEB by molecular genetic analysis.

Adolescent↗
PubMed2006

Histological response to injected dextranomer-based implant in a rat model.

To investigate the short and long term histopathological alterations caused by submucosal injection of dextranomers in sodium hyaluronan (DiHA) based on an experimental rat model. Sixty Sprague-Dawley rats were assigned into two groups as group I and II, each containing 30 rats. Totally 0.1 ml of saline solution and 0.1 ml of DiHA were injected into the submucosa of bladder of first (control) and second groups, respectively. Both group I and II were further subdivided into three other groups as Group IA, IB, IC and Group IIA, IIB, IIC according to the sacrificial period. Group IA and IIA, IB and IIB, IC and IIC rats (ten rats for each group) were sacrificed 3, 6, and 12 months after surgical procedure, respectively. Two slides prepared from injection site of the bladder were evaluated completely for each rat by being unaware of the groups and at random by two independent senior pathologists to determine the fibroblast invasion, collagen formation, capillary growth and inflammatory reaction. Additionally, randomized brain sections from each rat were also examined to detect migration of the injection material. The measurements were made using an ocular micrometer at 10x magnification. The results were assessed using t-tests for paired and independent samples, with P<0.05 considered to indicate significant differences; all values were presented as the mean (SD). Migration to the brain was not detected in any group. Significant histopathological changes in the DiHA injected groups were granuloma formation in 43.3%, foreign body type giant cells in 76.6%, inflammatory infiltration in 100%, and fibroblasts surrounding microspheres in 100% of the rat bladder. The interaction between granuloma formation and long-term tissue effects in children is still obscure. We emphasize that further prospective human (and/or animal) studies are required to clarify the long-term effects of granuloma formation with regard to clinical applications.

Animals↗
PubMed2006

Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit.

Escobar syndrome is a form of arthrogryposis multiplex congenita and features joint contractures, pterygia, and respiratory distress. Similar findings occur in newborns exposed to nicotinergic acetylcholine receptor (AChR) antibodies from myasthenic mothers. We performed linkage studies in families with Escobar syndrome and identified eight mutations within the gamma -subunit gene (CHRNG) of the AChR. Our functional studies show that gamma -subunit mutations prevent the correct localization of the fetal AChR in human embryonic kidney-cell membranes and that the expression pattern in prenatal mice corresponds to the human clinical phenotype. AChRs have five subunits. Two alpha, one beta, and one delta subunit are always present. By switching gamma to epsilon subunits in late fetal development, fetal AChRs are gradually replaced by adult AChRs. Fetal and adult AChRs are essential for neuromuscular signal transduction. In addition, the fetal AChRs seem to be the guide for the primary encounter of axon and muscle. Because of this important function in organogenesis, human mutations in the gamma subunit were thought to be lethal, as they are in gamma -knockout mice. In contrast, many mutations in other subunits have been found to be viable but cause postnatally persisting or beginning myasthenic syndromes. We conclude that Escobar syndrome is an inherited fetal myasthenic disease that also affects neuromuscular organogenesis. Because gamma expression is restricted to early development, patients have no myasthenic symptoms later in life. This is the major difference from mutations in the other AChR subunits and the striking parallel to the symptoms found in neonates with arthrogryposis when maternal AChR auto-antibodies crossed the placenta and caused the transient inactivation of the AChR pathway.

Amino Acid Sequence↗
PubMed2006

Histological response to injected gluteraldehyde cross-linked bovine collagen based implant in a rat model.

BACKGROUND: The aim of present study is to investigate the short and long term histopathological alterations caused by submucosal injection of gluteraldehyde cross-linked bovine collagen based on an experimental rat model. METHODS: Sixty Sprague-Dawley rats were assigned into two groups as group I and II each containing 30 rats. 0.1 ml of saline solution and 0.1 ml of gluteraldehyde cross-linked bovine collagen were injected into the submucosa of bladder of first (control) and second groups, respectively. Both group I and II were further subdivided into 3 other groups as Group IA, IB, IC and Group IIA, IIB, IIC according to the sacrification period. Group IA and IIA, IB and IIB, IC and IIC rats (10 rats for each group) were sacrificed 3, 6, and 12 months after surgical procedure, respectively. Two slides prepared from injection site of the bladder were evaluated completely for each rat by being unaware of the groups and at random by two independent senior pathologists to determine the fibroblast invasion, collagen formation, capillary ingrowth and inflammatory reaction. Additionally, randomized brain sections from each rat were also examined to detect migration of the injection material. The measurements were made using an ocular micrometer at x10 magnification. The results were assessed using t-tests for paired and independent samples, with p < 0.05 considered to indicate significant differences; all values were presented as the mean (SD). RESULTS: Migration to the brain was not detected in any group. Significant histopathological changes in the gluteraldehyde cross-linked bovine collagen injected groups were fibroblast invasion in 93.3%, collagen formation in 73.3%, capillary ingrowth in 46.6%, inflamatory reaction in 20%. CONCLUSION: We emphasize that the usage of gluteraldehyde cross-linked bovine collagen in children appears to be safe for endoscopic treatment of vesicoureteral reflux.

Animals↗
PubMed2006

Calpain-3 mutations in Turkey.

Autosomal recessive limb-girdle muscular dystrophies (LGMD2s) are a clinically and genetically heterogeneous group of disorders, characterized by progressive involvement of the proximal limb girdle muscles; the group includes at least 10 different genetic entities. The calpainopathies (LGMD2A), a subgroup of LGMD2s, are estimated to be the most common forms of LGMD2 in all populations so far investigated. LGMD2A is usually characterized by symmetrical and selective atrophy of pelvic, scapular and trunk muscles and a moderate to gross elevation of serum CK. However, the course is highly variable. It is caused by mutations in the CAPN3 gene, which encodes for the calpain-3 protein. Until now, 161 pathogenic mutations have been found in the CAPN3 gene. In the present study, through screening of 93 unrelated LGMD2 families, we identified 29 families with LGMD2A, 21 (22.6%) of which were identified as having CAPN3 gene mutations. We detected six novel (p.K211N, p.D230G, p.Y322H, p.R698S, p.Q738X, c.2257delGinsAA) and nine previously reported mutations (c.550delA, c.19_23del, c.1746-20C>G, p.R49H, p.R490Q, p.Y336N, p.A702V, p.Y537X, p.R541Q) in the CAPN3 gene. There may be a wide variety of mutations, but clustering of specific mutations (c.550delA: 40%, p.R490Q: 10%) could be used in the diagnostic scheme in Turkey.

Adolescent↗
PubMed2006

Spectrum of brain changes in patients with congenital muscular dystrophy and FKRP gene mutations.

OBJECTIVES: To report the spectrum of brain magnetic resonance imaging findings in 13 patients with congenital muscular dystrophy and FKRP gene mutations and to explore possible genotype-phenotype correlations. DESIGN: We retrospectively reviewed brain magnetic resonance imaging in patients with congenital muscular dystrophy and FKRP gene mutations. PATIENTS: Thirteen patients with congenital muscular dystrophy and mutations in the FKRP gene. RESULTS: Five of the 13 patients had the typical phenotype originally described for congenital muscular dystrophy (MDC1C) with normal intelligence and normal brain magnetic resonance imaging while 3 other patients had isolated cerebellar cysts and mental retardation without any other sign of posterior fossa of supratentorial abnormalities. In the remaining 5 patients cerebellar cysts were associated with structural brain changes involving the posterior fossa and the cortex, ranging from focal unilateral periventricular nodular heterotopia to marked cerebellar dysplasia and pontine hypoplasia. In 2 of these 5 patients the severity and distribution of changes resembled muscle-eye-brain disease in 1 patient who had mild Walker-Warburg syndrome. The distribution of FKRP gene mutations identified in this group of patients did not reveal any obvious association with the severity of central nervous system involvement. CONCLUSIONS: The severity of central nervous system involvement observed in our patients in contrast broadly reflected the severity of the disruption of alpha-dystroglycan glycosylation. In particular, dystroglycan expression was almost absent in the patients with muscle-eye-brain diseaselike phenotype and less severely reduced in the patients with congenital muscular dystrophy (MDC1C) with or without cerebellar cysts. This study further highlights the central role that dystroglycan has in neuronal migration.

Brain↗
PubMed2006

Prenatal period to adolescence: the variable presentations of congenital cystic adenomatoid malformation.

BACKGROUND: Congenital cystic adenomatoid malformation (CCAM) of the lung is a rare but potentially life-threatening pulmonary anomaly. METHODS: Seven patients operated on with the diagnosis of CCAM were reviewed to determine the clinical presentation, age at diagnosis, histopathologic types and the postoperative course. RESULTS: Cough and respiratory distress were common clinical findings in the patients in the present study. Two of the patients had congenital respiratory distress. The patient who was diagnosed at 15 years had cough, hemoptysis and anorexia for the last 4 months. One patient who received the diagnosis of CCAM prenatally was asymptomatic until she was operated on, on the 45th postnatal day. All patients but one were operated on and histopathological diagnosis was made for each of them between the ages of 4 days to 12 months. Four patients were diagnosed as having CCAM type I, and three patients had CCAM type II histopathologically. Duration of postoperative follow up was between 3 months and 15 years. Neither patient had complaints during that period. CONCLUSION: CCAM can present at different ages and in various clinical presentations. There can even be asymptomatic patients who receive their diagnosis during the prenatal period. The possibility of an underlying CCAM should be considered in infants with recurrent chest infections or persistent abnormalities on chest X-ray following an acute infection. CCAM should also be considered in cases with lung abscess, even in adolescents with no past history of pulmonary complaints.

Adolescent↗
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

Is Dandy-Walker malformation associated with "distal 13q deletion syndrome"? Findings in a fetus supporting previous observations.

We report on a fetus with a large deletion of the distal part of the long arm of chromosome 13, (del(13)(q14 --> qter)) congenital anomalies of the urinary system, lungs and extremities, and Dandy-Walker malformation (DWM). Although DWM has been associated with many chromosomal abnormalities and genetic syndromes, its relation to the distal 13q has been demonstrated recently. In 2002, McCormack et al., described two patients with deletions of the long arm of chromosome 13 who had multiple congenital abnormalities along with holoprosencephaly (HPE) and DWM. The phenotypic features and autopsy findings of a fetus with "distal 13q deletion syndrome" at 22 weeks gestation are discussed and comparison with the previous two cases is made. The findings support the previous hypothesis suggesting that haploinsufficiency at a locus within 13q22-33 due to microdeletions may be responsible for isolated DWM in some of the patients. Detailed examination of 13q (13q22-33) by means of conventional and molecular cytogenetic methods is necessary in cases with DWM.

Chromosome Aberrations↗
PubMed2005

Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy.

In this study, we characterized five Ullrich scleroatonic muscular dystrophy patients (two Italians, one Belgian, and two Turks) with a clinical phenotype showing different degrees of severity, all carrying mutations localized in COL6A1. We sequenced the three entire COL6 complementary DNA. Three of five patients have recessive mutations: two patients (P1and P3) have homozygous single-nucleotide deletions, one in exon 9 and one in exon 22; one patient (P2) has a homozygous single-nucleotide substitution leading to a premature termination codon in exon 31. The nonsense mutation of P2 also causes a partial skipping of exon 31 with the formation of a premature termination codon in exon 32 in 15% of the total COL6A1 messenger RNA. The remaining two patients carry a heterozygous glycine substitution in exons 9 and 10 inside the triple-helix region; both are dominant mutations because the missense mutations are absent in the DNA of their respective parents. As for the three homozygous recessive mutations, the apparently healthy consanguineous parents all carry a heterozygous mutated allele. Here, for the first time, we report a genotype-phenotype correlation demonstrating that heterozygous glycine substitutions in the triple-helix domain of COL6A1 are dominant and responsible for a milder Ullrich scleroatonic muscular dystrophy phenotype, and that recessive mutations in COL6A1 correlate with more severe clinical and biochemical Ullrich scleroatonic muscular dystrophy phenotypes.

Adolescent↗
PubMed2005

Childhood diffuse panbronchiolitis: a case report.

Diffuse panbronchiolitis (DPB) is a chronic, potentially life-threatening lower respiratory tract disease that is particularly common in Japanese people. If left untreated, it progresses to bronchiectasis, respiratory failure, and death. Lack of familiarity with DPB in the non-Far East may result in a failure to correctly diagnose and treat this disorder. We describe a child with DPB. We suggest that DPB is a sinopulmonary disease that is not exclusive to the Asian population and to adults. Its clinical and radiological features should be better known by pediatric pulmonary physicians.

Bronchiolitis↗
PubMed2005

Aneurysmal bone cyst of the rib in a child: report of a case.

An aneurysmal bone cyst (ABC) is a benign tumor of the skeletal system, which is rare in childhood and mostly occurs in long bones. An aneurysmal bone cyst of the rib is also very rare and it is difficult to distinguish from other rib tumors of childhood, especially Ewing's sarcoma. An unusual case of an aneurysmal bone cyst in the rib of a 12-year-old boy is presented herein. The entity is discussed with special emphasis on the clinicopathologic features, differential diagnosis, and treatment. The most important diagnostic aid in accurately identifying such cysts is to be aware of such a possible diagnosis when a child presents with a rib mass. An en bloc resection of the mass along with the affected portion of the rib is mandatory to obtain a satisfactory outcome.

Biopsy, Needle↗
PubMed2005

An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker-Warburg syndrome (WWS) caused by a mutation in the POMT1 gene.

Mutations of the protein O-mannosyltransferase (POMT1) gene affect glycosylation of alpha-dystroglycan, leading to Walker-Warburg syndrome, a lethal disorder in early life with severe congenital muscular dystrophy, and brain and eye malformations. Recently, we described a novel form of recessive limb girdle muscular dystrophy with mild mental retardation, associated with an abnormal alpha-dystroglycan pattern in the muscle, suggesting a glycosylation defect. Here, we present evidence that this distinct phenotype results from a common mutation (A200P) in the POMT1 gene. Our findings further expand the phenotype of glycosylation disorders linked to POMT1 mutations. Furthermore, the A200P mutation is part of a conserved core haplotype, indicating an ancestral founder mutation.

Adolescent↗
PubMed2005

Prenatal diagnosis in laminin alpha2 chain (merosin)-deficient congenital muscular dystrophy: a collective experience of five international centers.

The congenital muscular dystrophies (CMD) are clinically and genetically heterogeneous. The merosin (laminin alpha2 chain) deficient form (MDC1A), is characterized clinically by neonatal hypotonia, delayed motor milestones and associated contractures. It is caused by deficiency in the basal lamina of muscle fibers of the alpha2 chain of laminins 2 and 4 (LAMA2 gene at 6q22-23). Laminin alpha2 chain is also expressed in fetal trophoblast, which provides a suitable tissue for prenatal diagnosis in families where the index case has total deficiency of the protein. This article reports the collective experience of five centers over the past 10 years in 114 prenatal diagnostic studies using either protein analysis of the chorionic villus (CV) of the trophoblast plus DNA molecular studies with markers flanking the 6q22-23 region and intragenic polymorphisms (n=58), or using only DNA (n=44) or only protein (n=12) approaches. Of the 102 fetuses studied by molecular genetics, 27 (26%) were predicted to be affected while 75 (74%) were considered as unaffected, with 52 (51%) being heterozygous, thus conforming closely to an autosomal recessive inheritance. In 18 of the 27 affected fetuses, the trophoblast was studied by immunocytochemistry and there was a total or only traces deficiency of the protein in CV basement membrane in all. In 10 cases material from the presumably affected fetus was available for analysis after termination of the pregnancy and immunohistochemical study confirmed the diagnosis in all of them. Prenatal studies of 'at risk' pregnancies in the five centers produced neither false negative (merosin-deficiency in CVs in a normal fetus), nor false positive (normal merosin expression in CVs and affected child), indicating the reliability of the technique, when all the necessary controls are done. Our experience suggests that protein and DNA analysis can be used either independently or combined, according to the facilities of each center, to provide accurate prenatal diagnosis of the MDC1A, and have an essential role in genetic counseling.

Amniotic Fluid↗
PubMed2005

Severe lethal spinal muscular atrophy variant with arthrogryposis.

Spinal muscular atrophies are a clinically and genetically heterogeneous group of disorders. Atypical forms of the disease have also been described, including those with associated sensory deficits, hearing loss, cerebellar hypoplasia, congenital heart defects, arthrogryposis, and bone fractures at birth. The patient described here is a male infant, born to a 30-year-old mother at 34 weeks of gestation complicated with polyhydramnios. The first son of consanguineous parents had died with the same clinical features. The patient required ventilatory support because of respiratory failure after the birth and died on day 13. His physical examination revealed profound generalized hypotonia, absence of deep tendon and neonatal reflexes, dysmorphic facies, arthrogryposis, clinodactyly, and left femur fracture. A muscle biopsy revealed variation in fiber size with occasional hypertrophic fibers. The postmortem examination revealed loss and degeneration of anterior horn cells. We propose that the patient, who presented with severe hypotonia, femur fracture, arthrogryposis, dysmorphic features, history of early death of his brother with the same clinical features and parental consanguinity, had probable X-linked spinal muscular atrophy. However, autosomal-recessive inheritance can not be completely excluded.

Arthrogryposis↗
PubMed2005

Histologic characteristics of the human prepuce pertaining to its clinical behavior as a dual graft.

The aim of this study was to investigate the unique histologic structure of the normal human prepuce, paying particular attention to the resemblance and dissimilarities between the inner (ie, mucosa) and outer (ie, skin) layers. Histologic sections were stained using hematoxylin-eosin and Van Gieson stains. Transmission electron microscopy was used to evaluate the ultrastructure. Dense capillary networks can be observed in both the upper and lower dermal zones. The dermis lacks a dense collagenous zone. Melanocytes could not be observed in the mucosa. Elastin fibers and bundles were very abundant and dense. Early edema formation can be explained by the loose character of the dermal structure. Better graft "take" in mucosal grafts may be the result of the dense vascular dermal network. Mild hyperpigmentation can be explained by the limited number of melanocytes. However, this can also be observed in mucosal grafts, despite the absence of melanocytes. This may be solely the result of inflammatory hyperpigmentation, which can be seen in skin grafts. The abundance of elastin fibers in the prepuce may be the reason behind the superior wound contraction inhibition.

Humans↗