A PATIENT WITH PARTIAL CHROMOSOME 12q DUPLICATION AND 10q DELETION.

Chromosomal deletions and/or duplications are relatively common cytogenetic abnormalities. Clinical findings depend on pure or complex forms of the anomaly, the location and size. In those cases, using current analytical technologies increases the possibility of discovering candidate genes that were not detected by conventional karyotyping responsible for these features. Here, we report an 18-month-old girl with prenatal and postnatal growth retardation, secundum ASD and PDA, facial dysmorphic features including frontal bossing, arched eyebrows, hypertelorism, wide nasal bridge and chronic diarrhea. Chromosome analysis on the peripheral leukocytes showed a 46,XX del(10)(q26.3),dup(12)(q24.11-q24.33) dn karyotype. An array-CGH analysis was performed to understand which genes were located on the deletion and duplication regions and what was their relationship with the phenotype. Based on our analyses, the deletion of the CALY gene on Chromosome 10q and the duplication of PTPN11 and TBX5 genes on chromosome 12q were possibly relevant for the clinical findings with our patient.

Assessing farm tractor incidents and awareness levels of operators for tractor safety issues in the Hatay province of Turkey.

Studies and statistical data on safety issues related to farm tractors and machinery are very limited in developing countries, including Turkey. This study was carried out to investigate tractor-related incidents in the Hatay province, located in the mid-south of Turkey. A questionnaire was conducted with 107 tractor operators using face-to-face interviews. Data were evaluated according to the incident type, machinery involved, and mechanism of injury or fatality. A total of 101 incidents were reported by 77 of the 107 respondents. Most of the incidents were due to tractor rollovers (65.4%), 14.8% of the incidents were due to entanglement of body parts in moving machinery, and 12.9% involved crashing into other vehicles or obstacles. The leading cause of the incidents was personal mistakes (60.4%). Fatalities resulted from 25.7% of the incidents, while 45.5% of the incidents caused non-fatal injuries. Only 5.6% of the tractors had a ROPS-enclosed cab. The percentage of ROPS-equipped tractors was 19.6%, while 41.3% of the tractors had a shade cover and 33.6% had no protective structure. Only one of the respondents used a seatbelt, although 44.9% of them stated that seatbelts should be used. It was also found that only 13.5% of the operators had training in work safety, while 95.1% stated that incidents might be reduced if people were trained. Development of appropriate policies and training programs are needed for safer operation of agricultural machinery to reduce injuries and fatalities due to farm accidents.

Muscle hemangiomatosis presenting as a severe feature in a patient with the pten mutation: expanding the phenotype of vascular malformations in bannayan-riley-ruvalcaba syndrome.

Bannayan-Riley-Ruvalcaba syndrome (BRRS) is a rare autosomal, dominantly-inherited, hamartoma syndrome with distinct phenotypic features. Mutations in the PTEN gene have been identified in PTEN hamartoma tumor syndromes. Our aim was to determine the correlation of phenotype-genotype relationships in a BRRS case. We have evaluated a PTEN mutation in a patient with vascular anomalies and the phenotypic findings of BRRS. We described an 8-year-old girl with the clinical features of BRRS, specifically with vascular anomalies. The mutation in the PTEN gene was identified by DNA sequencing. In our patient, we defined a de novo nonsense R335X (c.1003 C>T) mutation in exon 8, which results in a premature termination codon. Due to vascular anomalies and hemangioma, the patient's left leg was amputated 1 year after the hemangioma diagnosis. Bannayan - Riley - Ruvalcaba syndrome patients with macrocephaly and vascular anomalies should be considered for PTEN mutation analysis and special medical care.

Molecular characterization of microduplication 22q11.2 in a girl with hypernasal speech.

We present a 12-year-old girl with karyotype 46,XX. A comparative genomic hybridization array revealed a 3.172-Mb microduplication on 22q11.2. This chromosome 22q11.2 region microduplication has been described in patients with variable phenotypes; a large majority of them have identical 3-Mb duplications. The girl presented mild mental motor retardation, facial dysmorphism consisting of a long narrow face, widely spaced eyes, downslanting palpebral fissures, broad nasal base, short philtrum, thin upper lip, micro/retrognathia, low set and retroverted ears, microcephaly, high-arched palate, hypoplastic teeth, and hypernasal speech. She had delayed psychomotor development and behavioral problems. Molecular characterization of patients differs greatly among reports and detailed molecular characterization and documentation are needed to better understand the effects of these duplications. This description of the phenotype of a patient with microduplication on 22q11.2 will contribute to the growing knowledge regarding deletions and duplications of the 22q11.2 region; this is important to conclude whether 22q11.2 duplication is a microduplication syndrome or not.

In vitro IL-1beta release from gingival fibroblasts in response to pure metals, dental alloys and ceramic.

Little information is available on the immunological basis for side-effects of dental materials. The objective of this study is to evaluate effects of pure metals, dental alloys and ceramic on cell viability and interleukin-1 beta (IL-1beta) release in three-dimensional human gingival fibroblast cultures as an indicator of their biological performance in gingival tissues. The gingival fibroblast cultures were exposed to test specimens fabricated from nickel, iron, molybdenum, copper, indium, gold, Ni-Cr-Mo alloy (Remanium CS), Au-Pt-In alloy (Pontostar) and a dental ceramic (In-ceram). Cell viability was determined by the MTT method 24 and 48 h after exposure. Assays for IL-1beta were carried out by ELISA. Statistical analysis was performed applying the non-parametric Mann-Whitney pairwise test. Dental ceramic and gold did not influence cell viability after 24 and 48 h. Cell viability was determined after 24 and 48 h to nickel (79-77%), iron (92-90%), molybdenum (86-83%), copper (48-36%), indium (90-90%), Remanium CS (83-80%), Pontostar (94-91%) compared with control cultures. Dental ceramic, Pontostar and gold had no significant influence on IL-1beta secretion. The highest amounts of IL-1beta (10-fold) levels were determined in cell cultures exposed to copper. Indium, molybdenum and iron induced twofold IL-1beta levels compared with untreated control cultures. These results support that some metals may alter immune responses and thereby contribute to a variety of dental pathological conditions and three-dimensional cell culture models for gingival fibroblasts appear to be suitable for in vitro studies.

MEFV gene is a probable susceptibility gene for Behçet's disease.

OBJECTIVE: Behçet's disease (BD) is a rare, chronic, multisystem inflammatory disorder. The prevalence of BD is higher in the Middle Eastern and Mediterranean populations. Another chronic inflammatory disease, familial Mediterranean fever (FMF), is also known to be highly prevalent in these populations. The prevalence of BD is higher in the FMF patient population than in populations known to be rich in BD . Both BD and FMF have some pathophysiological features in common and they result from inappropriate activation of neutrophils. Clinical manifestations of both diseases can mimic each other and the coexistence of both diseases in the same patient has been reported. Given that BD and FMF have similar pathophysiological, epidemiological, and clinical features, we hypothesized that the gene responsible for FMF, MEFV, may also play a role in the pathogenesis of BD. METHODS: Forty-two BD patients who had no symptoms and family history for FMF and 66 healthy controls were screened for common MEFV gene mutations (E148Q, M680I, M694V, and V726A). RESULTS: Fifteen patients (36%) displayed MEFV mutations (nine M694V, five E148Q, and one M680I) and mutation rates were significantly elevated compared to 66 (11%) healthy controls (p = 0.0034). CONCLUSION: The occurrence of frequent MEFV mutations in BD patients suggests that the MEFV gene is involved in the pathogenesis of Behçet's disease.