Effect of exposure to different light colors on embryonic development and neurophysiological traits in the chick embryo.

BACKGROUND AND AIM: Many environmental factors exist that influence embryonic development which is missing in the poultry industry, such as light in incubation facilities or hatcheries. Light plays an important role in the growth and development of chick embryos, whereas dark environments can lead to hatching failure or embryo distortion. Therefore, this study aimed to demonstrate the importance of light and its various colors on the growth and development of broiler chick embryos. MATERIALS AND METHODS: Four treatments were used to study the impact of various light colors on the growth of embryos and their neurophysiological traits: Dark without light (D), red light (RL), blue light (BL), and green light (GL), with three replicates per treatment (25 eggs/replicate) for a total of 300 fertile Ross 308 eggs. Each treatment was assigned to one incubator (75 eggs/incubator), whereas all other conditions were kept the same. RESULTS: The results showed a significant increase (p<0.01) in embryonic development for embryo weight, chick body weight, hatchability, and embryo index for RL, BL, and especially GL. RL, BL, and especially GL significantly increased (p<0.01) neurophysiological traits of the neurons, brain weight, and brain index. CONCLUSION: The use of light during the embryonic period affects the development of the embryo and its neurophysiological traits.

Mitochondrial DNA copy number alterations in familial mediterranean fever patients.

OBJECTIVES AND BACKGROUND: Familial Mediterranean Fever (FMF) is characterized by recurrent fever episodes as a result of inflammation of serous membranes. Changes in the number of different mtDNA copy number variations, detected in FMF patients, who developed amyloidosis, might be an important parameter in the understanding of the pathophysiology of the disease. METHODS: Changes in the mtDNA copy number between 50 patients with FMF, who had M694V homozygote mutation and amyloidosis, and 50 healthy controls, who had not any MEFV mutation or FMF clinical finding, were examined. The 22 MEFV mutations were analyzed by Pyromark Q24 system. Quantitative analysis was performed on RT-PCR. The level of mtDNA was calculated using the delta Ct (ΔCt) of average Ct of mtDNA and nDNA (ΔCt = Ct mtDNA-Ct nDNA) in the same well as an exponent of 2 (2ΔCt). RESULTS: A significant decrease in the amount of mtDNA was detected in FMF patients with M694V homozygous mutation carriers, who developed amyloidosis compared to the control group (p < 0.001). CONCLUSION: In this study, mitochondrial dysfunction, which has been identified through changes in the mitochondrial genome in many diseases, was identified by showing that the copy number variations of mtDNA in leukocytes also decreased for FMF disease (Tab. 3, Fig. 1, Ref. 21).

The value of Nigella sativa in the treatment of experimentally induced rhinosinusitis.

The aim of this study was to investigate the effect of Nigella sativa and cephalexin in the therapy of experimental bacterial rhinosinusitis. Bacterial rhinosinusitis was induced with Staphylococcus aureus. Rabbits were divided into five groups; control (n = 6), N. sativa 50 mg/ kg/d (n = 6), N. sativa 100 mg/kg/d (n = 6), N. sativa 200 mg/kg/d (n = 6), and cephalexin 20 mg/kg/d (n = 6) groups. N. sativa was given orally for 7 days. The same volume of normal saline (0.9% NaCl) was given as a vehicle to the control group for the same period. After treatment period, sinus mucosa samples were evaluated using stereological and histopathological methods. Half of the maxillary sinus mucosa samples were frozen at -800C for further analysis of NO levels. Pathology revealed a severe acute inflammatory process in rabbits treated with saline. Only mild inflammation was determined in cephalexin group, N. sativa 100 mg/kg/d and N. sativa 200 mg/kg/d groups. The level of NO increased in the saline group was significantly reduced in all treatment groups. N. sativa may prevent histopathological changes of rhinosinusitis via decreased NO levels in a dose dependent manner and can be used in the treatment of rhinosinusitis diseases.

BDNF Val66Met polymorphism moderates the link between child maltreatment and reappraisal ability.

Child maltreatment is associated with increased risk for virtually all common mental disorders, but it is not yet clear why. One possible mechanism is emotion regulation ability. The present study investigated for the first time the influence of a BDNF Val66Met genotype × child maltreatment interaction on emotion regulation, and compared differential susceptibility and diathesis-stress models. A sample of N = 254 healthy volunteers were genotyped for the BDNF Val66Met polymorphism and underwent an experimental assessment of reappraisal ability (i.e. the success of using reappraisal to downregulate negative affect). A self-report instrument previously validated against a clinical interview was used to investigate child maltreatment. There was a significant BDNF Val66Met genotype × child maltreatment interaction (B = -0.31, P < 0.015), with Met carriers showing both the lowest level of reappraisal ability in maltreated participants, and the highest level of reappraisal ability in non-maltreated participants. By assessing alternative models, we found that the best fitting model was in line with strong differential susceptibility. As expected, reappraisal ability was negatively correlated with depressive symptoms. Therefore, the BDNF Val66Met polymorphism moderates the link between child maltreatment and emotion regulation ability. Future studies could investigate whether improving reappraisal in maltreated BDNF Met carriers results in reduced risk for mental disorders.

Anti-inflammatory and anti-oxidative effects of alpha-lipoic acid in experimentally induced acute otitis media.

OBJECTIVES: To investigate the anti-inflammatory, anti-oxidative and tissue protective effects, as well as the potential therapeutic role, of alpha-lipoic acid in experimentally induced acute otitis media. METHODS: Twenty-five guinea pigs were assigned to one of five groups: a control (non-otitis) group, and otitis-induced groups treated with saline, penicillin G, alpha-lipoic acid, or alpha-lipoic acid plus penicillin G. Tissue samples were histologically analysed, and oxidative parameters in tissue samples were measured and compared between groups. RESULTS: The epithelial integrity was better preserved, and histological signs of inflammation and secretory metaplasia were decreased, in all groups compared to the saline treated otitis group. In the alpha-lipoic acid plus penicillin G treated otitis group, epithelial integrity was well preserved and histological findings of inflammation were significantly decreased compared to the saline, penicillin G and alpha-lipoic acid treated otitis groups. The most favourable oxidative parameters were observed in the control group, followed by the alpha-lipoic acid plus penicillin G treated otitis group. CONCLUSION: Alpha-lipoic acid, with its antioxidant, anti-inflammatory and tissue protective properties, may decrease the clinical sequelae and morbidity associated with acute otitis media.

The role of endothelin-1 and endothelin receptor antagonists in allergic rhinitis inflammation: ovalbumin-induced rat model.

OBJECTIVE: Desloratadine is a biologically active metabolite of loratadine which is indicated for the treatment of allergic rhinitis. Bosentan is a dual endothelin receptor antagonist used to treatment of pulmonary artery hypertension (PAH). In this study, we aimed to determine the role of endothelins in allergic rhinitis (AR) and the effects of endothelin receptor antagonists in AR rat models through comparison with desloratadine. METHODS: In total, 20 adult Sprague-Dawley rats were used in this study. An ovalbumin-induced allergic rhinitis model was formed in three study groups except for the control group. Bosentan (100 mg/kg/day) was given to the bosentan-treated group for 7 days and desloratadine (10 mg/kg/day) was administered to the antihistaminic-treated group for 7 days. Nasal symptom scorings and histopathological examinations of the nasal tissues were carried out. Serum IgE levels and ET-1 and TNF-alpha mRNA expression levels were analysed. Between group comparisons for nasal symptoms, histopathological analysis, and molecular analyses were performed with a one-way ANOVA and Duncans multiple comparison tests. Significance was accepted at p smaller than 0.05. RESULTS: Bosentan inhibited nasal symptom more significantly than desloratadine. The IgE level, ET-1 and TNF-alpha mRNA expression levels statistically increased in the allergic rhinitis group when compared to other groups. Conversely, the bosentan-treatment group showed a significant recovery from the same parameters. The deterioration in histopathological parameters reached the highest levels in the allergic rhinitis group. The histopathological findings were close to those of the control group in the bosentan and antihistaminic-treated group. CONCLUSIONS: ET-1 is one of the mediators that impact AR development and ET-1 antagonists can be useful for symptom control and for decreasing allergic inflammation in AR patients.

PARTIAL TRISOMY 5p12-q 11.2 RESULTING FROM A MARKER CHROMOSOME: A NEW CASE REPORT WITH ATTENTION DEFICIT HYPERACTIVITY DISORDER.

Partial trisomy of chromosome 5 was first described by Lejeune et al. in 1964 on the short arm (12). The vast majority of the partial trisomy 5 cases include 5p duplications; however we reported a small supernumerary marker chromosome. General symptoms include developmental delay, mental retardation, seizures, respiratory difficulties, congenital heart defects, abdominal muscle hypoplasia and dysmorphic features such as macrocephaly, enlarged anterior fontanelle, dolichocephaly, upslanting palpebral fissures, epicanthal folds, hypertelorism, abnormal ears, midface hypoplasia, short nose, broad nasal bridge and microretrognathia. Arachnodactyly and club foot may be seen as cytoskeletal abnormalities and, hypotonia may be determined in neurological exam. Here we reported a case with developmental delay, attention deficit hyperactivity disorder, mild mental retardation and dysmorphic features, caused by a new small supernumerary marker chromosome, generating partial trisomy 5pI 2-q 11.2. To our knowledge, this small supernumerary marker chromosome has not been reported before. Severe type of partial trisomy 5 includes seizures, congenital heart defects, hypotonia and failure to thrive. Previously reported partial trisomy 5 cases, who showed severe phenotype, had usually duplicated 5p13 region. Therefore, patients, who do not have duplicated 5p13, showed mild phenotype. Also, duplication of the long arm of chromosome 5, may contribute to the milder phenotype and the longer survival in partial trisomy 5 patients. Attention deficit hyperactivity disorder, which we described in the present case, may be a result of partial trisomy 5, because it includes ADHD4 gene. This case may help better understanding the karyotype/phenotype correlation related to partial trisomy 5.

RECURRENT RAB3GAP1 MUTATIONS IN THE TURKISH POPULATION.

Warburg Micro Syndrome (WARBM, MIM 600118) is a rare, severe autosomal recessive neurodevelopmental disorder characterized by microcephaly, microphthalmia, microcornea, congenital cataract, cortical dysplasia, corpus callosum hypoplasia, intellectual disability, hypotonia and hypogonadism. RABS, small G proteins belonging to the RAS superfamily, are master regulators of vesicle trafficking in the cell. The identification of mutations in the RAB3GAP1 and RAB3GAP2 genes, which together encode the RAB3GTPase-activating protein, a key regulator in calcium-mediated exocytosis of neurotransmitters and hormones, has underpinned abnormal development of the brain, eye and genitalia as cardinal features of this syndrome. More than 100 patients have been reported with WARBM, with mutations in the RABGAP1, RABGAP2, RAB18 and TBC1D20 genes. The objective of the study was to describe the recurrent RAB3GAP1 mutations and compare the clinical features of the patients with WARBM in the Turkish population. Here we report two brothers with Warburg Micro Syndrome 1 from a non-consanguineous Turkish family with clinical features similar to those previously reported in Turkish patients with RAB3GAP1 mutations. We found that the c.748+1G>A splice-site mutation in RAB3GAP1 intron 8 is common and has so far only been detected in patients of Turkish ethnic origin. Although one of our patients has a distal extra crease on the 4th finger and another has nephrolithiasis, there does not appear to be any specific phenotypic findings associated with this mutation.

Zingiberene attenuates hydrogen peroxide-induced toxicity in neuronal cells.

In this experimental design, we explored the neuroprotective potential of zingiberene (ZGB), a monocyclic sesquiterpene, in hydrogen peroxide (H2O2)-induced toxicity in newborn rat cerebral cortex cell cultures for the first time. The rats were exposed to H2O2 for 6 h to determine the oxidative stress levels. To evaluate cell viability, both 3-(4,5-dimethylthiazole-2-yl)-2,5-diphenyltetrazolium bromide and lactate dehydrogenase assays were carried out. Total antioxidant capacity (TAC) and total oxidative stress (TOS) parameters were used to evaluate oxidative changes. Besides determining 8-hydroxy-2-deoxyguanosine (8-OH-dG) levels in vitro, single-cell gel electrophoresis was also performed to measure the resistance of neuronal DNA to H2O2- exposed rats. Our results showed that survival and TAC levels of the cells decreased, while TOS, 8-OH-dG levels and the mean values of the total scores of cells showing DNA damage increased in the H2O2 alone-treated cultures. But pretreatment of ZGB suppressed the cytotoxicity, genotoxicity and oxidative stress that were increased by H2O2. Based on these observations, it is suggested that the sesquiterpene ZGB can be used as a novel and natural potential therapeutic in counteracting oxidative damages in the field of neurodegenerative disorders.

Anophthalmia-plus syndrome with unusual findings. A clinical report and review of the literature.

We present a male child at 3 years old with Anophthalmia-Plus Syndrome (APS). He has asymmetry of the face and head, left choanal atresia, a sunken facial appearance, microphthalmia in the right eye, severe microphthalmia in the left eye, bilateral low-set ears, scarring from cleft palate surgery. Magnetic resonance imaging (MRI) sections revealed decreased right globe volume, an undeveloped left globe, decreased left optical nerve thickness, Chiari type 2 malformation, left choanal atresia and cleft palate. Echocardiography and abdominal ultrasonography were normal. The patient has a 45 dB conductive hearing loss in the left ear. Repeated thyroid function tests were evaluated as compatible with central hypothyroidism. We report a Fryns Anophthalmia-Plus Syndrome in a child with unusual findings including central hypothyroidism, chiari type 2 malformation, conductive hearing loss and developmental regression. Summary of the features reported in the present case and all 14 previous cases that might be defined as APS.

Mitochondrial DNA 4977 bp Deletion in Chronic Cervicitis and Cervix Cancers.

Mitochondrial DNA (mtDNA) mutations have been implied in many diseases including cancer and inflammatory diseases. The aim of this study is to investigate the relationship between the 4977 bp deletion of the mtDNA and chronic cervicitis or cervix cancer in patients. The study included a group of patients with chronic cervicitis or cervix cancer, and a control group consisting of individuals without any cervical tissue disease. A total of 72 subjects in an East Turkish population were included in the study. Of these, 35 had chronic cervicitis, 21 had cervix cancer and 16 served as the control group. Isolation of mtDNA was performed from the tissues of these patients and then mtDNA deletions were studied using polymerase chain reaction (PCR). In the cancer groups, there were 9.5% heteroplasmic and homoplasmic deletions. There were no homoplasmic deletions in the cervicitis and control groups, but the frequencies of heteroplasmic deletions were 80.0 and 31.2%, respectively. Chronic inflammation leading to increased reactive oxygen species (ROS) may be the cause of the high mtDNA 4977 bp deletion frequencies in cancer and cervicitis. The older age of the cancer patient may suggest that ageing in addition to long time exposure to ROS may lead to deletions and subsequently cancer. This is the first study to investigate the relationship of the mtDNA 4977 bp deletion to chronic cervicitis and cervix cancer.

A case of Bonneau syndrome associated with multiple renal cortical cysts.

We describe a 2-month-old girl with congenital anomalies including facial anomalies, complex cardiac anomalies, polysyndactyly, dysgenesis of distal extremities and bilateral multiple renal cysts. The proband was the child of first-cousin parents. Clinical synopsis in Bonneau syndrome (OMIM: 263630) is polysyndactyly and cardiac malformation. In addition, liver anomalies were reported in two patients. We discuss polysyndactyly and cardiac malformation with bilateral multiple renal cysts, a combination not reported previously.

A dysmorphic newborn with 45,X,der(1)inv(1)(p13;qter)t(Y;1)(pter-->q11;p13),-Y de novo karyotype.

A dysmorphic newborn with 45,x,der(1)inv(1)(p13;qter)t(y;1)(pter-->q11;p13),-Y de novo karyotype: Y/autosome translocations are very rare chromosomal rearrangements. In most cases, the long arm of the Y chromosome is translocated onto an autosome and most patients are referred because of male infertility. Y/1 translocations are very rare, and have been reported in seven patients so far. Pericentric inversions may be seen in all chromosomes and are not associated with phenotypic abnormalities. Here we report a 6-day old male baby with prenatal growth retardation, frontal bossing, hypertelorism, micrognathia, cleft soft palate, absent uvula, hypospadias, simian line in both hands and hammer toes. Cytogenetic analysis was performed with GTG-banding, C-banding and FISH analysis containing X centromeric probe, Yq12-qter locus specific probe and whole chromosome Y probe. An unbalanced Y/1 translocation was diagnosed: 45,X,der(1)inv(1)(p13;qter)t(Y;1)(pter-->q11;p13),-Y.

Trace elements in the human blood, cerebrospinal and amniotic fluid.

Human biological samples using the atomic emission method. The concentration of 27 micro- and macro elements was specified in a total number of 1221. Some of the patients tested were under hospital treatment because of chronic disease (727 persons), others were blood donors (71 persons) or pregnant women and newborn infants (107-107 persons, respectively). In the serum samples of the tested persons the concentration of barium, mercury, nickel and gallium showed characteristic differences. Concentrations of many micro elements in the serum and cerebrospinal fluid changed with age and sex. The tendency becomes characteristic after the age of 45 and 60, respectively. The concentration of elements in the blood serum of mothers and their newborn infants seems to be nearly identical with a considerable deviation observed only in case of aluminum, barium and iron (significant difference). The detected elements can pass through the placenta. This particularly applies to lead because the average lead concentration in the serum of newborn infants is 159 micrograms/litre even at birth.

Trace elements in the environment and in human organs: analysis according to domicile and sex.

Copper, zinc, lead and cadmium content of the kidney, liver and lung derived from 1072 autopsies has been determined. The content of lead and cadmium in liver, the content of copper, cadmium and zinc in lung of the rural population (541 cases) was higher than those of the urban population (531 cases). The cadmium content difference of the lung was found to be significant (p less than 0.05). In the lung of the urban population the Zn/Cu relation was better (0.80) than in rural population (0.39). In the kidney and lung of the urban males (297 cases) the cadmium content was significantly higher than in females (234 cases). In the liver the differences were not significant. The Zn/Cu relation was found to be high in both sexes in kidney and in lung respectively (r = 0.90-0.87). In the rural population the sex difference are characteristic: The lead and cadmium content are significantly lower in the kidney and lung of the women. The lead content in the women's liver is lower (p less than 0.05).

Trace elements in the environment and in human organs. I. Methods and results.

The authors have determined by spectrophotometry the copper, zinc, lead, and cadmium content of the kidney, liver, lung, and adrenal derived from 1072 autopsies. The metallic content of food and drink was examined and the daily quantity consumed was stated by measuring and calculation. According to the results in Hungary the daily ingestion of these four microelements is small, as reflected by the metal content of the organs. An average 75% of the kidney's whole cadmium content is present in the cortex of the kidney. Lead in the medulla and zinc in the cortex are found in larger quantities. Analyzing the distribution according to sexes it was found that lead in the liver and kidney and cadmium in the kidney and lung of women is significantly lower than in the male. However, the element content in the adrenal is significantly higher for zinc and cadmium in women. The cadmium distribution in the kidney is similar to the essential elements. The correlation of the element pairs is better in the kidney and lung (Zn-Cu is 0.55 in the kidney and 0.51 in the lung).

[Microelements in the placenta, in maternal blood and in umbilical cord blood]. / Mikroelemente in der Plazenta, im mütterlichen Blut und im Blut des Nabels.

The content of copper, zinc, plumbum and cadmium was determined in maternal blood, umbilical blood and placental tissue using atomic absorption method. In umbilical blood the concentration of copper and zinc was significantly lower, independent from sex and birth weight of the newborns and from age and residence of the mothers. Cadmium and plumbum did not show such differences. Placenta is permeable to cadmium.

[Copper, zinc, lead and cadmium in the placenta]. / Kupfer, Zink, Blei und Kadmium in der Plazenta.

On the occasion of investigations about the placental content of copper, zinc, plumbum and cadmium it was pointed out that the placental content of these trace elements depends from age and residence of the pregnant women, date of birth and fetal weight.