Genetics analysis with down syndrome and histopathological examination of buccal epithelial cells / Análisis genético y examen histopatológico de las células epiteliales bucales en pacientes con síndrome de down

Down syndrome is primarily caused by trisomy of chromosome 21. We reviewed cytogenetic studies performed on 1048 patients who were referred to the Cytogenetics Unit at Dicle University Hospital, Diyarbakir, Southeast Turkey, between 2000 and 2009. The cases were grouped according to the reason of referral for cytogenetic analysis. The highest frequencies of abnormal karyotypes were found among cases that were referred due to suspicion of Down syndrome (84.8 percent). For histologic examination to persons with Down syndrome and normal, buccal mucosa smear was prepared by rubbing. Down syndrome are disabled and control groups were compared statistically buccal epithelial cells and nuclei (p<0.05). Periphery of the nucleus in some patients with Down's syndrome, while the bud structures in the form of micronuclei was observed in the karyolytic cells.

El síndrome de Down es causado principalmente por la trisomía del cromosoma 21. Se revisaron los estudios citogenéticos realizados en 1.048 pacientes que fueron remitidos a la Unidad de Citogenética del Dicle University Hospital, Diyarbakir, sudeste de Turquía, entre los años 2000 y 2009. Los casos se agruparon de acuerdo a la razón de referencia para el análisis citogenético. Las frecuencias más altas de cariotipos anormales se encontraron ent los casos que fueron remitidos por sospecha de síndrome de Down (84,8 por ciento). Para el estudio histológico de las personas con y sin síndrome de Down, se realizó el frotis de mucosa oral por hisopado. Los grupos con síndrome de Down y de control (sin síndrome) se compararon estadísticamente en relación a las células epiteliales orales y los núcleos (p <0,05). Se observaron núcleos periféricos en algunos pacientes con síndrome de Down, mientras que estructuras de tipo brotes en la forma de micronúcleos se observaron en las células cariolíticas.

Chromosome heteromorphisms are more frequent in couples with recurrent abortions.

Chromosomal heteromorphism is considered a variant of a normal karyotype, but it is more frequent in couples with repeated miscarriages. We investigated chromosomal heteromorphism in couples with repeated miscarriages in comparison with a control group. A total of 455 couples who applied to our genetic diagnosis laboratory in Diyarbakir, Turkey, were evaluated for chromosome heteromorphisms; 221 of these couples (the study group) had recurrent abortions and 234 of them (the control group) had no history of abortions and had at least one living child. The patient group of couples with recurrent abortions were found to have a significantly higher rate of chromosome heteromorphism (8.4%) in comparison with the control group (4.9%). When the patients were evaluated according to gender, males had a significantly higher rate of chromosome heteromorphism (11.3%) than females (5.4%). We conclude that since couples with recurrent abortion and males have higher rate of chromosome heteromorphism, cases of heteromorphism should not be disregarded in the etiological investigation of recurrent abortions. Further research should be done to investigate the phenotypic effects of chromosome heteromorphism.

Evaluation of clinical and cytogenetic findings on 1,068 second-trimester amniocenteses in Southeast Turkey.

OBJECTIVE: To investigate the indications of amniocentesis for the detection of chromosomal abnormalities among a sample of patients in Southeast Turkey. MATERIAL AND METHODS: Between 2004 and 2007, 1,068 second-trimester amniocentesis tests were performed in the Medical Biology and Genetics Department Laboratory at Dicle University. Amniotic fluids were cultured by using long-term tissue culture for prenatal diagnosis with cytogenetic analysis. The clinical and cytogenetic findings on 1,068 second-trimester amniocenteses were analyzed. The indications, the proportions of karyotypes according to indications and complications were summarized. RESULTS: Among the 1,068 amniocentesis cases, the maternal age between 35 and 39 years was the most common age group (34.5%). Of the clinical indications abnormal maternal serum screening results were the most common indication for amniocentesis (37.6%). Of 52 cases (4.9%) with detected chromosomal aberrations, 39 were numeric (27 trisomies, 10 sex chromosome aberrations and two triploidies) and 13 were structural (2 reciprocal translocations, 2 Robertsonian translocations and 6 inversions). The highest detection rate of chromosome aberrations was in cases undergoing amniocentesis for abnormal maternal serum screening combined with abnormal ultrasound (US) findings (8.0%). CONCLUSION: This study suggests that complementary measures, such as routine antenatal US and maternal serum screening, should be added to increase the efficiency of genetic amniocentesis. Therefore, the study could be used for the establishment of a database for genetic counseling.

Cytogenetic analysis of 4216 patients referred for suspected chromosomal abnormalities in Southeast Turkey.

We reviewed cytogenetic studies performed on 4216 patients who were referred to the Cytogenetics Unit at Dicle University Hospital, Diyarbair, Southeast Turkey, between 2000 and 2009. The cases were grouped according to the reason of referral for cytogenetic analysis. The frequencies of the different types of numerical and structural abnormalities were determined, and the relative frequency of cases with abnormal karyotypes was calculated in each group. The most common reason for requesting cytogenetic testing was referral for Down syndrome and for repeated abortions. The highest frequencies of abnormal karyotypes were found among cases that were referred due to suspicion of Down syndrome (84.8%). Among the chromosomal abnormalities, sexual chromosomal abnormalities were found in 239 cases (17.6%), and Klinefelter syndrome was the most frequent sex chromosomal abnormality. Autosomal abnormalities were found in 1119 cases (82.4%), and Down syndrome was the most frequent autosomal chromosomal abnormality. In conclusion, the high rate of chromosomal abnormalities (32.2%) found in this population demonstrates the importance of cytogenetic evaluation in patients who show clinical abnormalities. This is the first report on cytogenetic testing in the southeast region of Turkey. This type of study provides a basis for determining the risks of recurrence and for deciding on clinical treatment and genetic counseling.

Viscocanalostomy with mitomycin-C: a preliminary study.

PURPOSE: To compare the results of viscocanalostomy with and without mitomycin-C (MMC). METHODS: Retrospective results of 15 standard viscocanalostomy (VCO) operations (Group 1) were compared with the prospective results of 15 VCO operations performed with intraoperative adjunctive MMC (Group 2). MMC (0.2 mg/mL) was applied over and under the superficial scleral flap for 3 minutes in Group 2 before the deep flap was prepared. Each patient was followed up for at least 1 year, and results of examinations in the first 12 months were used in the statistical comparison of the two groups. Surgical success was defined as intraocular pressure (IOP) < or = 18 mmHg. RESULTS: Preoperative mean intraocular pressures (IOP) in Group 1 and Group 2 were 35.3+/-11.0 and 39.1+/-8.9, respectively. Mean IOP levels at the 12th month were 14.4+/-2.6 and 11.9+/-4.0, respectively, showing a significant decrease in both groups (p<0.001). Postoperative IOP course appeared to be lower in the MMC group, however, the difference was not statistically significant (p=0.554). Complete success rates without medications were 40% in Group 1 and 67% in Group 2. No significant difference was found between the two groups in terms of early and late postoperative complications, pre- and postoperative number of antiglaucoma medications, and surgical success rates at the end of the study period (p>0.05 for all). A significant difference was verified between the two groups of eyes considering the conjunctival bleb types, as low-lying, localized blebs were the most frequent type in Group 1 and thin-walled, avascular blebs were more predominant in the MMC group (p=0.004). CONCLUSIONS: Intraoperative adjunctive MMC use might improve the long-term results of viscocanalostomy by facilitating subconjunctival filtration and might widen the indication range of the technique.

Pulmonary alveolar microlithiasis: a rare familial inheritance with report of six cases in a family. Contribution of six new cases to the number of case reports in Turkey.

Pulmonary alveolar microlithiasis (PAM) is a lung disease characterized by deposits of calcium within the alveoli. Our aim was to emphasize the familial character and the clinical features of the disease, and to draw attention to the increasing number of Turkish patients reported in the world. We detected 6 cases of PAM. Three cases had been diagnosed 4 years earlier, and 3 new cases were detected during the screening of the family members. All patients were male and the mean age was 11.5 ranging between 5 and 29 years. Five of the patients were cousins and the other one was their uncle. Radiographic studies showed a sand-like appearance in all patients. One case showed small subpleural bullae and bronchiectatic changes in both lower lobes in recent high-resolution CT scans, while his CT performed 4 years ago showed only sand-like appearance. The cases were diagnosed with the demonstration of microliths by bronchoalveolar lavage in 5 patients and transbronchial biopsy in 1. Recently reported cases from Turkey have constituted a considerable percentage among all cases in the world. In conclusion, (1) our patients constitute one of the largest series of cases reported in one family in the world. The disease seems to have familial and racial characteristics. The Turkish race has to be further investigated for genetic transmission. (2) Contrary to female predominance in previous reports, all 6 cases were male and 5 of them were below 12 years of age. (3) The disorder may show rapid progression in some cases probably due to the severity of the genetic disturbance.

Colour Doppler imaging of the orbital vasculature in Graves' disease with computed tomographic correlation.

AIMS: To evaluate alterations in orbital blood flow parameters and their correlations with extraocular muscle enlargement, proptosis, and intraocular pressure in patients with Graves' disease. METHODS: In this multicentre study blood flow parameters in the ophthalmic artery, superior ophthalmic vein, central retinal artery and vein were determined by colour Doppler imaging in 111 patients with Graves' disease in two groups (A and B) and 46 normal control subjects. Group A consisted of 42 patients with Graves' disease without ophthalmopathy; group B of 69 patients with Graves' disease with ophthalmopathy as detected by orbital computed tomographic scanning. RESULTS: Peak systolic and end diastolic velocities in the ophthalmic artery, peak systolic velocity in the central retinal artery, and maximal and minimal velocities in the central retinal vein in patients in group B were statistically significantly higher than those in group A and the normal controls, whereas maximal and minimal velocities in the superior ophthalmic vein in patients in group B were statistically significantly lower than those in group A and the control subjects. Peak systolic and end diastolic velocities in the ophthalmic artery, peak systolic velocity in the central retinal artery, and maximal and minimal velocities in the central retinal vein also correlated with the sum of all extraocular muscle diameters in group B (r > or =0.31, p< or =0.021). Blood flow parameters had no consistent correlation with proptosis or intraocular pressure (p>0.05). No statistically significant difference was found in resistivity indices between the groups (p>0.05). Reversed blood flow was noted in nine (13%) superior ophthalmic veins in group B. CONCLUSION: Orbital blood flow velocities are altered in patients with Graves' ophthalmopathy and may be detected by colour Doppler imaging. Some of these changes also correlate with the enlargement of extraocular muscles. The increased blood flow velocities in arteries may be secondary to orbital inflammation.

Quantitative CT of the orbit in Graves' disease.

In order to determine the value of quantitative CT of the orbit in patients with Graves' disease, we clinically examined 174 orbits of 87 patients with Graves' disease and evaluated them by CT in respect to the density and size of the extraocular muscles, the globe position and the width of the optic nerve-sheath complex. We also determined the normal ranges for density of extraocular muscles in 200 normal orbits of 100 patients for comparison. Normal ranges for the density of extraocular muscles were (mean +/- 2 SD) medial rectus, 28-63 HU; lateral rectus, 24-78 HU; inferior rectus, 20-64 HU; superior muscle group, 28-62 HU. 51 of 77 (66%) patients with Graves' disease had extraocular muscle density changes. Some extraocular muscles showed fatty infiltration on CT. 50 of 87 (57%) patients had at least one enlarged extraocular muscle, 47 (54%) patients had exophthalmos and 59 (68%) patients had either exophthalmos and/or extraocular muscle enlargement. A diagnosis of Graves' ophthalmopathy was made in 69 of 87 (79%) patients using CT and in 50 (57%) patients by clinical examination. We conclude that quantitative CT imaging of the orbit with evaluation of the size and density values of extraocular muscles and the globe position may be very helpful in detecting ophthalmopathy in patients with Graves' disease.