Retrospective analysis of early- and late-operated meningomyelocele patients.

PURPOSE: Myelomeningocele (MMC) is one of the commonest congenital malformations. Hydrocephalus develops in 65-85% of cases with MMC. Only 3-10% of MMC patients have normal urinary continence. We aim to investigate the effects of early and late operation in MMC patients in terms of development of hydrocephalus, motor deficits, and bladder functions. METHODS: Medical records of MMC patients operated between January 2008 and December 2014 were reviewed retrospectively. RESULTS: We retrospectively investigated patients' records of 43 patients. Twenty of the patients were operated within the first 48 h after the delivery (early repair group), while 23 of the patients were operated after 48 h of delivery (late repair group). In the early repair group, 15 patients were operated due to hydrocephalus. Urodynamic problems were detected in 17 (85%) patients. In the late repair group, shunts were placed in 14 (61%) patients during follow-up period and urodynamic problems were detected in 19 (82.6%) patients. Mean operation time for the late group was 4.6 months. There was no statistical difference between the early and late group in terms of neurological and urodynamic deficits. The mean follow-up period was 45.5 months. CONCLUSION: In the literature, surgery in the first 48 h of life is recommended for MMC patients. There was no difference between the early- and late-operated groups by means of hydrocephalus, urodynamic functions, and motor deficits in our study. Late surgery of intact sacs may avoid complications related to surgery in the neonatal period.

Colonization by nitrogen-fixing Frankia bacteria causes short-term increases in herbivore susceptibility in red alder (Alnus rubra) seedlings.

Carbon allocation demands from root-nodulating nitrogen-fixing bacteria (NFB) can modulate the host plant's chemical phenotype, with strong bottom-up effects on herbivores. In contrast to well-studied rhizobia, the effects of other important NFB on plant chemistry and herbivory are much less understood. Here, combining field surveys in the Oregon Coast Range, USA with laboratory experiments, we analyzed how N2-fixing Frankia bacteria influenced plant growth, chemistry, and herbivory on Alnus rubra (red alder) seedlings. In the field, we quantified Frankia nodulation, herbivore damage, and plant size. In the laboratory, we grew seedlings with Frankia (F+), Frankia-free but nitrogen-fertilized (N+), or both uncolonized and unfertilized (F-N-) and assessed growth and leaf chemistry. We further conducted choice trials with black slugs, Arion rufus, a natural red alder herbivore. In the field, Frankia nodulation was significantly positively correlated with herbivory and negatively with seedling height. In contrast, in the lab, F+ as well as N+ seedlings were significantly taller than the F-N- controls. Seedlings from both treatments also had significantly increased leaf protein concentration compared to controls, whereas carbon-based nutritive compounds (carbohydrates) as well as leaf palatability-decreasing condensed tannins, lignin, and fiber were decreased in F+ but not in N+ treatments. In the choice assays, slugs preferred leaf material from F+ seedlings, but the effects were only significant in young leaves. Our study indicates that colonization by Frankia causes short-term ecological costs in terms of susceptibility to herbivory. However, the ubiquity of this symbiosis in natural settings suggests that these costs are outweighed by benefits beyond the seedling stage.

No association between catalase (CAT) gene polymorphisms and susceptibility to vitiligo in a Turkish population.

BACKGROUND AND AIMS: Vitiligo is an acquired hypomelanotic skin disorder resulting from the loss of functional melanocytes from the cutaneous epidermis. Low catalase (CAT) activity and Accumulation of hydrogen peroxide (H2O2) have been demonstrated in the epidermis of vitiligo patients. Some polymorphisms on catalase gene may have effect on the quantity and activity of catalase enzyme. The aim of this study was to investigate whether catalase (CAT) gene polymorphisms are associated with susceptibility to vitiligo in Turkish population. MATERIALS AND METHODS: One hundred and three patients with vitiligo and one hundred and seven gender, age and ethnic matched controls were enrolled in the study. Genotyping was done by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP). RESULTS: The CAT gene -89A>T (rs7943316) and 389C>T (rs769217) genotypes and allele frequencies of vitiligo patients did not differ significantly from those of healthy controls. CONCLUSIONS: We found no association between CAT gene -89A>T and 389C>T polymorphism and vitiligo susceptibility in Turkish vitiligo patients. Further studies with greater sample size should be performed to verify these results.

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.

A small supernumerary marker chromosome, derived from chromosome 22, possibly associated with repeated spontaneous abortions.

We report a phenotypically normal couple with repeated spontaneous abortions and without other clinical features. Clinical, hematological, biochemical, and endocrinological aspects of the couple did not reveal any abnormalities. The karyotype of the wife was normal (46,XX), while the husband was found to have an abnormal karyotype, 47,XY,+der(22)mat. The marker chromosome was familial and non-satellite. Although the potential risk of small supernumerary marker chromosomes for spontaneous abortions cannot be defined precisely, marker chromosomes, together with methods used for ascertainment, are also factors to be considered when investigating infertility consequences. Furthermore, identification of the origin of a marker chromosome may provide additional information for patient karyotype-phenotype correlations. Further studies, such as molecular analyses to identify the breakpoint, are necessary for investigating phenotype-genotype correlations and assessment of genetic risks for small secondary chromosomes. The cause of repeated spontaneous abortions in this couple might be the presence of this marker chromosome in the husband. Consequently, we recommended genetic counseling before further pregnancies.

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.

Effect of intraoperative magnesium sulphate infusion on pain relief after laparoscopic cholecystectomy.

INTRODUCTION: The aim of the study is to evaluate the analgesic efficiency of perioperative magnesium sulphate infusion in patients undergoing laparoscopic cholecystectomy (LC). METHODS: In a randomized, double-blind trial study, 83 patients were divided into two groups. Group MT received 50 mg/kg i.v. magnesium sulphate in 100 ml of 0.9% normal saline and Group T received the same volume of isotonic saline during the intraoperative period. The cumulative post-operative tramadol consumption was measured to assess the analgesic effect using a patient-controlled analgesia device. Pain intensities at rest and while coughing were evaluated at 0, 2, 4, 8, 12, and 24 h post-operatively. RESULTS: The pain scores in Group MT were significantly lower than Group T at 0, 4, and 12 h post-operatively. The average of visual analogue scale at rest and during cough during 24 h post-operatively was found to be statistically significant between groups. The total dose of tramadol the 24-h period in Group MT and Group T was found to be 281.34 +/- 90.82 and 317.46 +/- 129.59, respectively. CONCLUSION: Per-operative 50 mg/kg magnesium sulphate infusion is effective in reducing post-operative pain in patients undergoing LC.

Cytogenetic and Y chromosome microdeletion screening studies in infertile males with Oligozoospermia and Azoospermia in Southeast Turkey.

PURPOSE: In view of the genetic risks for the next generation, the importance of careful evaluation of karyotypes and AZF microdeletions in male infertility prior to assisted reproduction is evident. In the present study, it is aimed to investigate the frequency and types of both major chromosomal abnormalities by using standard cytogenetic methods and Y chromosome microdeletions of infertile males with azoospermia and oligozoospermia to give appropriate genetic counseling before assisted reproduction techniques in southeast Turkey. METHODS: A total of 80 infertile males (52 were azoospermic, 25 oligospermic and 3 asthenospermic) were studied for the cytogenetic evaluation and molecular AZF screening program prior to use of assisted reproduction techniques. A detailed history was taken for each man. Karyotyping was performed on peripheral blood lymphocytes according to standard methods. Polymerase chain reaction (PCR) amplification by using 15 Y-specific sequence-tagged sites of AZF region was performed to screen the microdeletions in the AZF region of Y chromosome. RESULTS: Of 80 cases, 71 had normal karyotype (46,XY). The total prevalence of chromosomal abnormalities was found to be 11.2% (9/80), including seven patients with Klinefelter syndromes and two patients with balanced autosomal rearrangements. All of the patients with Klinefelter Syndrome had azoospermia, but carriers with translocation had oligospermia. The deletions of Y chromosome were seen in one patient (1.3%) with features of normal karyotype and azoospermia. Microdeletions were seen in the AZFc and AZFd regions. Neither AZFa nor AZFb microdeletions were detected. CONCLUSIONS: The occurrence of chromosomal anomalies and Y chromosome microdeletions among infertile males strongly suggests the need for routine genetic testing and counseling prior to employment of assisted reproduction techniques.

Larrey hernia complicated with colonic obstruction in a 77-year-old woman: a case report.

Congenital Larrey hernia has a rare incidence and is frequently diagnosed in the later decades of life. This case study presents a 77-year-old woman with Larrey hernia and an intestinal obstruction complication, treated with laparatomic surgery.

Spontaneous pneumomediastinum in 3rd trimester of pregnancy.

A 25-year-old primiparous woman in her third trimester (36. week) of pregnancy presented with spontaneous pneumomediastinum and cervical subcutaneous emphysema. The patient's symptoms were completely resolved after 2 weeks of supportive management. A Caesarean section was performed in 40. week under general anaesthesia resulting in the birth of a healthy infant. Spontaneous pneumomediastinum is very rare and generally dangerous for a pregnant woman and infant.

Retinoic acid and intestinal wound healing in intra-operatively irradiated rat.

AIM: This study was undertaken to assess the effect of intra-operative radiotherapy on intestinal wound healing and prevention of its side effects by retinoic acid. MATERIALS AND METHODS: Thirty Spraque-Dawley rats were divided into 3 groups of (n = 10). All the groups had laparatomies and terminal ileum exteriorization. Group I was the control group with no irradiation and no anastomosis; group II had both irradiation and anastomosis and group III rats had peroral retinoic acid conditioning and irradiation + anastomosis. On the seventh postoperative day, tensile strength and intestinal elongation measurements were to evaluate the effect of retinoic acid on wound healing. RESULTS: Compared to the non-retinoic acid conditioned group, the retinoic acid conditioned group had statistically significant higher tensile strength and lower intestinal elongation values, revealing better wound healing. CONCLUSION: Peroral retinoic acid supplement administration has a preventive effect on radiation-induced wound-healing inhibition in intra-operative abdominopelvic irradiation and anastomoses.

Pulmonary protective effects of hyberbaric oxygen and N-acetylcysteine treatment in necrotizing pancreatitis.

The purpose of this study is to analyze the protective effect of combining N-acetylcysteine (NAC) and hyberbaric oxygen (HBO) treatment in the lung tissue during acute pancreatitis. Sixty Sprague-Dawley male rats were randomly divided into five groups; Group I; Control group (n=12), Group II; pancreatitis group (n=12), Group III; pancreatitis + NAC treatment group (n=12), Group IV; pancreatitis + HBO treatment group (n=12), Group V; pancreatitis + HBO + NAC treatment group (n=12). HBO was applied postoperatively for 5 days, twice a day at 2.5 fold absolute atmospheric pressure for 90 min. Lung tissue was obtained for measuring malondialdehyde (MDA), superoxide dismutase (Cu/Zn-SOD) and glutathione peroxidase (GSH-Px) levels along with histopathological tissue examinations. This study showed that all three treated groups (HBO alone, NAC alone and combined HBO+NAC treatment) had pulmonary protective effects during acute necrotizing pancreatitis.

Muir-Torre syndrome presenting with ileus: a case report.

The Muir-Torre syndrome is characterized by cutaneous neoplasms and visceral malignancies. At least one sebaceous adenoma, epithelioma or carcinoma and at least one internal malignancy are required to make a reliable diagnosis. According to medical literature only two cases of Muir-Torre syndrome with jejunal carcinoma have been reported to date and there is no reported case with intestinal obstruction. Here, we report an unusual case of jejunal carcinoma presenting with ileus.

Spermatocele: a rare complication of rectal surgery and radiotherapy. Case report.

A 47-year-old man developed a presacral mass after abdominoperineal resection, which is combined with pre and postoperative radio-chemotherapy for carcinoma of the rectum. CT-guided biopsy and cytological examination of the mass revealed no malignancy but spermatocele, which is a very unusual complication of rectal surgery.

Endovascular stent-graft placement for the management of a traumatic axillary artery pseudoaneurysm-a case report.

A 24-year-old woman with a right infraclavicular gunshot wound developed an axillary artery pseudoaneurysm. She was successfully treated by using a 5 cm Hemobahn stent-graft with a diameter of 6 mm. Postimplantation arteriography revealed normal flow through the axillary artery without evidence of leakage of contrast medium. Five months after the procedure, stenoses developed within the stent-graft owing to intimal hyperplasia and were treated by balloon angioplasty. The patient has been followed up symptom-free for 6 months after the second procedure.

Hypertonic saline in hydatid disease.

The objective of this study was to determine the scolicidal effects of saline in different concentrations using different exposure times and to examine whether hypertonic saline can be used to irrigate the abdomen when there is a free intraperitoneal perforation of hydatid disease. Various concentrations of saline solutions (0.09%, 3.0%, 6.5%, 10%, 15%, 20%, 25%, 30%) were added to concentrated echinococcus granulosus sediments for the following times: 1, 2, 3, 4, 5, 10, 15, 30, 45, and 60 minutes. Normal (0.09%), 3.0%, and 6.5% saline resulted in high viability ratios after 60 minutes' exposure. Complete lethality for 10%, 15%, 20%, 25%, and 30% saline occurred at the end of 75, 10, 6, 3, and 3 minutes, respectively. During the second part of the study, 20 Sprague-Dawley rats were used for abdominal saline irrigation in four groups: 30% NaCl for 3 minutes; 20% NaCl for 6 minutes; intravenous isotonic dextrose water and furosemide plus 30% NaCl irrigation for 3 minutes; the same prophylactic therapy plus 20% NaCl irrigation for 6 minutes. Sodium and chloride values rose significantly (20-30%) shortly after hypertonic saline irrigation in each group (p < 0.01). Support with isotonic dextrose and furosemide before irrigation did not have any beneficial effect on biochemical values or mortality. The 24- and 48-hour mortality rates were 70% and 90%, respectively. These studies illustrate that the scolicidal effect of hypertonic saline is limited in low concentrations, but an increase in the concentration can augment its adverse effects. Peritoneal irrigation with hypertonic saline should be avoided for intraabdominal perforated hydatid disease. Therefore, we concluded that hypertonic saline is not a good scolicidal agent to prevent recurrence of hydatid disease.