simplified schematic design for cytogenetic testing strategies

The development of new genetic diagnostic, and hence therapeutic possibilities, has brought the realization that genetic disease is now an integral part of medical practice. Advances in cytogenetic and molecular testing have drastically improved the ability to diagnose with certainty many previously unrecognized genetic diseases. However, this advance in technology does not come without new questions. New tests are not always the most cost-effective ones and some have significant diagnostic limitations. Genetic tests fall under three major categories: chromosomal genetic tests; molecular genetic tests [DNA and gene tests]; and biochemical genetic tests [measuring the amount and activity of proteins]. This review article focuses on chromosomal anomalies and cytogenetic tests. The different types of cytogenetic tests, their indications, and the advantages and disadvantages of each of them are discussed. This review will also present the strategy of choice for each one of these tests depending on the type of chromosomal anomalies that we are searching for and the available specimen for diagnosis. Chromosomal anomalies represent one of the entities of genetic diseases. A large number of cytogenetic tests exist for diagnosis of these chromosomal anomalies. However, the choice of cytogenetic test to be carried out should be based on clinical indications, on the type and size of cytogenetic anomaly that we are searching for, and on the available specimen for diagnosis

Genotoxicity of cadmium in rat lung cells assessed by an alkaline comet assay and the possible protective role of selenium

Cadmium is a highly toxic heavy metal with many hazardous effects. Selenium is an essential trace element with antioxidant properties. To evaluate the cadmium-induced DNA damage in rat lung cells and the possible protective role of selenium. Thirty-six adult male albino rats were used in this experiment. They were divided into four equal groups. Group I was the control group. Group II included rates that were injected intraperitoneally with cadmium chloride [CdCl[2]] [1.0 mg/kg/day] for 8 weeks. Group III included rates injected intraperitoneally with sodium selenite [Na[2]SeO[3]] [0.25 mg/kg/day] for 8 weeks. Group IV included rats injected intraperitoneally with both CdCl[2] [1.0 mg/kg/day] and Na[2]SeO[3] [0.25 mg/kg/day] for 8 weeks. At the end of the experiment, the lungs of rats were taken and processed for single-cell gel electrophoresis [comet assay]. In the control group, comets appeared with large bright heads and small tails. The injection of CdCl[2] in group II induced DNA damage in rat lung cells, indicated by increased migration in the comet assay. Comet cells appeared with small heads and long tails. Statistically, there was a significant increase in tail length, tail moment, and tail% DNA compared with the control. Injection of selenium alone did not show any difference from the control. Concomitant administration of both cadmium and selenium resulted in a partial decrease in the DNA damage in rat lung cells indicated by decrease in DNA migration in the comet assay. Comet cells appeared with large heads and relatively small tails compared with those of group II. A significant decrease was also observed in tail length, tail moment, and tail% DNA compared with group II. CdCl[2] could significantly induce DNA damage in rat lung cells. It was suggested that selenium could partially ameliorate DNA damage induced by cadmium

Effect of N-acetylcysteine on hypertrophic cardiomyopathy in streptozotocin-induced diabetic rats

The aim of the present study is to investigate the effect of N-acetylcysteine, on interleukin-6, superoxide dismutase activity, and protein kinase C activity in normal and diabetic rat hearts. Rats were divided into four groups eight rats each, control, control treated, diabetic, and diabetic treated groups. One week after induction of diabetes, N-acetylcysteine was administered to the control treated and diabetic treated groups in a dose of 1.5 g/kg daily for eight weeks by intragastric tube. The results of the present work showed that streptozotocin induced diabetes is associated with increased superoxide dismutase activity, interleukin-6 in plasma and cardiac tissue, and increased protein kinase CB2 activity in cardiac tissue. Further, diabetic rats exhibited cardiac hypertrophy indicated by increased heart to body weight and ventricular to body weight ratios. N-acetylcysteine treatment to diabetic rate causes significant decrease in all previous parameters also it significantly attenuate the increase in heart to body weight and ventricular to body weight ratios. These data support the hypothesis that the oxidative stress contributes to the pathogenesis of diabetic cardiomyopathy and N-acetylcysteine an effective antioxidant have a beneficial effects in the treatment of diabetic cardiomyopathy

Amino acid and peptide derivatives as anti-allergic and anti-inflammatory agents

It was proved that current anti-allergic drugs comprise piperazine and acrylic acid segments. These compounds were structurally designed as 5-lipoxygenase inhibitors depending on two action mechanisms of the ready drugs used to treat allergy e.g.[Oxatomide], which contains piperzine moiety, its anti-allergic effects possess antagonist activities against chemical mediators such as histamine, serotonine and leukotrienes [which cause allergy]. Also, [Tranilast], which contains acrylic acid segment; its activity depends on inhibition of mediator release. In harmony with these findings new structures having anti-allergic properties are proposed in this manuscript. New products, [5a-u] with expected better biological activities and decreased side effects were synthesized by the addition of an amino acid conjugate of cinnamic acid to a piperazine segment. Their anti-allergic and anti-inflammatory activities were evaluated. Most of them show promising activities

Blood levels of iron, copper, zinc, nitric oxide, and APOE [epsilon]4 allele frequency in patients with Alzheimer's disease

Alzheimer's disease [AD] is the most common form of dementia, characterized by slow, progressive memory loss. As the disease progresses other symptoms such as visuospatial disorientation, language impairment, and executive dysfunction or frontal lobe signs develop. The current study was performed to investigate the role of iron, copper, zinc, nitric oxide [NO] in relation to ApoE epsilon 4 allele frequencies in patients with AD. This study was carried out on sixty elderly subjects aged >/= 60 years. The subjects were classified into two groups matched for age and gender: Group I: included 30 elderly patients [74.3 +/- 7.2 years] diagnosed as probable Alzheimer's disease according to the DSM-IV-TR and the NINCDS-ADRDA. Group II: included 30 cognitively normal elderly subjects [71.7 +/- 3.6 years] with no evidence of any neurological or psychiatric diseases, or any medical illness that affects cognition. Laboratory investigations were done for patients. The following plasma parameters were measured: iron, copper, zinc and nitric oxide together with ApoE genotyping by PCR - RFLP. The current study revealed that plasma copper, zinc and nitric oxide levels were higher in AD group than control group. But, no statistically significant difference could be found between the two groups in plasma iron level. The frequency of ApoE 4 allele was higher among AD patients than control subjects. In comparison between ApoE4 +ve and ApoE4 -ve patients, no statistical significant difference in the neuropsychological assessment and biochemical assays was observed. Plasma copper level had statistically significant negative correlation with constructional praxis, ward list recognition, recall of constructional praxis, and stage of AD. While, iron, zinc, and NO plasma levels were not significantly correlated with any of the tested neuropsychological tests. We have demonstrated that, NO level had the highest sensitivity and specificity for predicting AD, followed by copper level. It can be concluded that, the ApoE4 gene is a strong risk factor for the AD but it is neither necessary, nor enough for the disease occurrence. Trace metals and NO abnormalities would influence ApoE, leading to development AD. Also, Copper blood levels are related to the abnormal cognition in AD patients

Simvastatin reverses cyclosporin A-induced endothelial damage in rats: lipid-lowering-dependent and -independent effects

Cydosporin A [CyA] is the immunosuppressant most frequently used in transplant surgery and in the management of autoimmune diseases. CyA-induced oxidative stress together with dyslipidemia have been implicated in the pathogenesis of vascular dysfunction associating CyA therapy. The present study investigated the possible protective effect of simvastatin, a lipid-lowering drug with potent antioxidant properties, against CyA-induced endothelial damage in male rats. Eighteen male Wistar rats were used. They were divided into 3 groups: control, CyA and CyA + simvastatin. In the control group, rats were administered the vehicle, olive oil; in the CyA group, rats were administered CyA [20 mg/kg/day, s.c. for 14 days] and in the CyA+simvastatin group, rats were co-administered simvastatin [2.5 mg/kg/day, s.c. for 14 days] and CyA. Administration of CyA [20 mg/kg/day, s.c. for 14 days] in male rats resulted in a significant increase in the lipid peroxidation product, malondialdehyde [MDA], and a significant decrease in superoxide dismutase [SOD] activity in plasma. CyA treatment was also associated with a significant increase in plasma nitrite level as well as an elevation in plasma cholesterol, triglycerides [TGs], low density lipoproteins [LDL] and a reduction in high density lipoproteins [HDL] levels. CyA-induced vascular dysfunction was further confirmed by the attenuation of endothelium-dependent relaxations produced by carbachol in rat isolated aortic rings. Co-administration of simvastatin [2.5 mg/kg/day, s.c. for 14 days] with CyA significantly reversed the deleterious biochemical and functional vascular effects that accompanied CyA treatment. The present study provides good evidence that both oxidative stress and dyslipidemia underlie the CyA-induced vascular damage, an effect that could be reversed by simvastatin co-administration

Effect of cytokinin and thidiazuron concentrations on proliferation and somaclonal variation of communis pear

Uniform shoot up explants of communis pear [Pyrus communis L] were cultured on Murashige and Skaog [MS] medium. Different concentrations of cytokinin [Kinetin [kin] and Benzyladenine[BA]] and thidiazuron TDZ] were tested. Data indicated that higher kinetin concentrations [4. 0 and 6. 0 mg/I] enhanced shoot number, shoot length and proliferation percentage. However, BA at the rate of 2. 0 mg/l enhanced proliferation, necrosis and greening. The best shoot number, shoot length and proliferation percentage were obtained when 1.0 thg/l TDZ was added to the medium. Somaclonal variability was studied in vitro on plantIets of pear by RAPD analysis. The explants were cultured on MS medium supplemented with different concentrations of different hormones; all treatments were screened using seven 10-mer primers. The analysis revealed that two out of the seven primers succeeded to amplify the DNAs and indicated that some polymorphic bands in DNA patterns of plantlets were obtained through the shoot apices, in case of T DZ treatment and BA but in case of Kin treatment the % of polymorphism was low or none. The work showed the potential for using RAPD analysis to study somaclonal variability in pear

Role of dermal ridge configuration in early detection of congenital anomalies

Early identification of congenital anomalies at birth is very important for genetic counseling and possible prevention. Often, malformations of hands are cardinal manifestations of many multiple anomalies syndromes. This work was designed to study dermatoglyphics as an additive marker for the diagnosis of associated congenital anomalies of newborns as well as of children. All cases and controls under study were subjected to: a-Complete medical history taking. b-Full clinical examination. c- Descriptive analysis of palm and sole creases as well as finger prints in each case using photography analysis. 1- Using chi-square test there was no statistically significant difference between the two study groups, regarding consanguinity [p<0.05, X[2] = 0.23]. Comparison between controls and cases as regards pattern count in digits in both hands revealed increased incidence of loops open to ulnar side [LU] in cases [556] compared to [342] in controls. 2- There is no statistically significant difference as regards mean digit ridge count in cases group compared to controls [p > 0.05, t -0.911]. 3- Comparison between cases and controls as regards the [Atd] angle, using t-test, revealed no statistically significant difference in mean count [p > 0.05, t for left hand -1.729 and for right hand -1.232]. 4- Classification of cases and controls according to [x] axial triradius using Chi-square test revealed no statistically significant difference between the two groups as regards the distribution of axial triradius in both hands [p> 0.05, X[2] 2.60]. 5- Comparison between controls and cases as regards the TRC of toe using student's t-test revealed high statistically significant difference in mean count in cases when compared to controls [p < 0.05, t -5.114]. The findings of this study showed that dermatoglyphics analysis can not be relied upon as a diagnostic aid in evaluating the newborn having chromosomal aberrations, but it can be used as screening aid for chromosomal aberrations

Effect of dimethyl diphenyl bicarboxylate on normal and chemically-injured liver

This study evaluates the effect of DDB on normal and chemically-injured liver. When given to normal rats DDB had no significant effect on liver enzymes, but in chemically-injured rats there was a significant decrease in the elevated levels of liver enzymes. DDB produced a significant increase in reduced glutathione, glutathione peroxidase and glutathione reductase, and a significant decrease in malondialdehyde and glucose-6-phosphate dehydrogenase in both normal and chemically-injured liver. The histopathology examinations showed a slight improvement with DDB administration. DDB has a beneficial effect on liver enzymes and possesses significant antioxidant properties in normal and chemically-injured liver, and may therefore be clinically useful in treating chronic viral hepatitis B in humans

Computed dynamic posturography in assessment and rehabilitation of patients with imbalance due to cerebellar dysfunction

The present study was conducted in order to investigate the role of computed dynamic posturography in the evaluation and rehabilitation in ataxic patients. This study was conducted on 24 ataxic patients classified into two groups: Group I comprised eight males and four females and group II included 12 healthy volunteers matched for age and sex. When compared with the control group, the ataxic patients [pretreatment] had significant lowered equilibrium scores in SO 1, 2, 5 and 6; while, no significant difference was observed in SO 3 and 4. When compared with pretreatment, they had a significant improvement in equilibrium scores in SO 1, 2, 5 and 6; while, no significant difference was detected in SO 3 and 4 [post-treatment]. It was concluded that the dynamic posturography was a valuable tool for the assessment of imbalance and neurological rehabilitation in ataxic patients

Cheirro arthropathy in diabetic patients

Nerve conduction studies [sensory] and sensory distal latency were commonly performed in diabetic patients who had peripheral neuropathy as a manifestation of systemic microvascular involvement. These patients, either IDDM with cheiroarthropathy [IDDM with DCA] or IDDM without cheiroarthropathy [IDDM without DCA] had microvascular affection in the form of retinopathy, nephropathy, carpal tunnel syndrome and flexor tenosynovitis, but with more prominent in IDDM with DCA. All these complications were age and duration related

Adverse effects of medroxyprogestrone acetate [depo-provera] injections on the vascular and histochemical patterns of liver of adult female albino rats

The effects of medroxyprogestrone acetate [MPA] [Depo-Provera[R]] on the vascular, morphological and histochemical patterns of the liver of female albino rats were studied. Twenty-seven adult female albino rats were divided into 3 equal groups. The first group served as control. The second group [treated group] and third group [recovery group] were injected intramuscularly with MPA weekly for 8 successive injections. The rats of the control and treated groups were sacrificed 48 hours after the last injection while those of the third group were sacrificed one month later to study reversibility of drug effects. All groups were studied for the liver vasculature [India ink injection technique], morphology of hepatocytes [Hematoxylin and Eosin stain], demonstration of liver glycogen [Periodic Acid Schiff; PAS stain] and for activity of both acid phosphatase and succinic dehydrogenase enzymes on frozen sections. Leica Quantimet Image Analyzer was used to perform the quantitative study. The effect of [MPA] was demonstrated in the treated group as marked increase in the liver cell size with multiple cytoplasmic vacuolization, statistically significant increase in the liver vasculature [p < 0.01] and statistically significant increase in the affinity of hepatocytes to PAS staining [p < 0.01]. However, no significant changes were observed in the activity of acid phosphatase and succinic dehydrogenase enzymes. In the recovery group, the liver failed to return to its normal vascular pattern and PAS stain affinity. It is concluded that cytoplasmic vacuolization associated with repeated MPA injection was reversible, however, a residual increase in vascularity and glycogen content was observed. Finally, monitoring of liver functions is highly recommended during the use of MPA injection

Postmortem endogenous production of ethanol in albino rabbit

This study was carried out to evaluate the endogenous postmortem [PM] ethanol production in Albino rabbit. Fifty-four adult male new-zeland rabbits were divided into three equal groups, 18 animals each. All groups were subjected to intra-peritoneal [IP] injection of 20 ml normal saline for group I [control], 20 ml of 50% glucose [G] for group II, and 2g/kg of 50% ethanol [E] [weight/volume] for group III. Sixty minutes after injection, all animals were sacrificed and left to putrefy for 24 ours at room temperature. Blood [B], vitreous humor [V] and urine [U] samples ere collected from each animal at 3 time intervals; I-Before commencing the experiment [0 time]: a blood sample was collected to determine blood glucose concentration [BGC-0] and Blood Ethanol Concentration [BEC-0]. 2-Sixty minutes after injection [just after animal sacrifice]: blood and vitreous humor samples to determine [BGC-60], [BEC-60] and [VEC-60] 3-Twenty-four hours postmortem blood, vitreous humor and urine samples to determine [BEC-24]. [VEC-24] and [UEC-24]. The results showed that there is a postmortem production of ethanol. In group I, the concentration of blood ethanol produced PM ranged from 0-42 mg/dL. In group II [glucose dosed group], this concentration ranged from 7-90 mg/dL. In group three [ethanol dosed group] BEC-24 was significantly higher than BEC-60. On the other hand, a positive correlation was found between BECF-60 and VEC-60, BEC-60 and VEC-24 and BEC-60 and UEC-24 in the ethanol dosed group. Furthermore, in the ethanol dosed group also, the ratio between UEC-24; BEC-60 was 1.236: 1, UEC-24: BEC-24 was 1.212: 1, UEC-24: VEC-24 was 1.219: I and UEC-24; VEC-60 was 1.161:1

Some toxicological interaction studies of aflatoxin [produced in groundnuts] and some insecticides

The present work is an investigation of the relationship between chronic toxicity of aflatoxin [B1 and G1] and the insecticide methomyl [lannate] to albino rats, by studying certain biochemical and pathological effects on rats chronically fed with aflatoxins or methomyl as well as the combination of both to perform some kind of comparative study. The biochemical parameters included the determination of GPT, GOT, creatinine, alkaline phosphatase and total protein. Histopathology of liver and kidney were also performed. Media extract contained 30 or 90 ug/100 gm gm body weight of each aflatoxin [B1 and G1] and methomyl in a dose equivalent to 1/10 LD[50] [0.17mg/100 b.w] were fed to groups of adult male rats as oral daily doses for 60 days. Also the combination of the aflatoxins [Bl and G1] and methomyl were fed to other groups of rats by the same regimen. The microscopical study of the liver treated with aflatoxin alone or in combination with methomyl revealed hepatocyte degeneration and necrosis with some mitotic activity. Inflammatory cells and intact blood vessels were also seen. The kidneys of these animals showed glomerular and tubular changes. Similar histopathological changes were obtained after methomyl treatment, The biochemical results of the different treated groups revealed a reduction in the serum total protein and an increase in serum creatinine, alkaline phosphatase, GPT and GOP. Methomyl produced no change in the levels of total protein and alkaline phosphatase

Role of cytogenetic study in diagnosis and management of primary gonadal failure

The present study investigates the clinical, cytogenetic and hormonal features of patients with primary gonadal failure aiming to define the role of cytogenetic study in their diagnosis and management. 30 patients were included in this study. They all had hypogonadism, elevated gonadotropin levels and streak or hypoplastic gonads by sonography. From the results obtained it was concluded that karyotyping is most useful in any patient with delayed sexual development, elevated serum gonadotropins and streak gonads

Nutritional outcome of appropriate feeding during and after acute diarrhoea in children

A sample of 120 children with acute diarrhoea was divided into two equal study groups. There was no difference between groups in pre-intervention and post-intervention findings during the acute phase of diarrhoea. Upon discharge, Group A patients were supplied weekly with sufficient milk formula and cereal together with adequate nutritional advice while Group B patients were supplied with food or nutritional advice only if requested by the mothers. Forty nine patients from each group were followed each week for four weeks. Group B infants showed a higher incidence of recurrent diarrhoeal attacks and a significantly longer duration of recurrent diarrhoea than Group A infants. Moreover, Group A infants scored a significantly higher weight increment than Group B ones after four weeks of follow up

Experimental neuroschistosomiasis mansoni: an immune complex syndrome

This work was designed as a trial to study the role of immune complexes in the pathogenesis of central nervous system lesions in mice experimentally infected with Schistosoma mansoni. To achieve this, counter immunoelectrophoresis was carried out using specific antigen after acid elution of both serum and tissue sections. Findings documented the presence of specific CIC[s] in serum and their deposition in brain tissue with gradual increase of both as time elapses. Using routine and special stains, histopathological change were detected in blood vessels and stroma of infected mice brains with predilection for central areas. Moreover, a positive relation was found between the degree of histopatholoical changes and the extent of IC deposition in the brains. Thus it could be assumed that IC[s] play an essential role in the pathogenesis of cerebral lesions in schistosomiasis mansoni

study of some cellular and immunmological aspects in patients with active and treated tuberculosis

Pulmonary defensive mechanisms [Neutrophilic cell function, total and differential white blood count, total proteins and protein electrophoresis and secretory immunoglobulin A] in the bronchial aspirate fluid of patients with pulmonary tuberculosis were studied in thirty male patients with pulmonary tuberculosis in the age group between 20-60 years old and in ten healthy volunteers as a control group in the same age group. The cases were classified into three groups each of 10 patients according to the duration of treatment, group A: not started treatment, group B: under treatment for 6 months and group C; Patients treated for 2 years. It was found that in patients with untreated pulmonary tuberculosis there was a significant increase in total WBC,% macrophage and% lymphocyte, ESR, SI[g]A, NBT tests and total proteins in the bronchial aspirate. These changes were in parallel with the activity of the disease, indicating that these parameters can be taken as criteria for the activity of the disease. Patients under antituberculosis treatment showed a tendency towards normalization of these parameters; [SI[g]A, ESR, NBT, total proteins and protein fractions] which then could be possibly taken as criteria for the efficiency of treatment and the sensitivity of T.B. bacilli to the type of drug given. A significant increase in the total protein and gammaglobulins was found in the bronchial aspirate of the three groups of patients. On the other hand, there is a decrease in albumin in group B patients

Postoperative analgesia by subarachnoid lidocaine plus calcitonin

This study was carried out on 20 patients, subdivided into 2 groups [10 patients each]. They were given either subarachnoid lidocaine 1 mg/kg plus-salmon calcitonin [100 IU] or lidocaine plus saline. Pain was evaluated by descriptive scale 3, 6, 12, 24; 48 and 72 hours after surgery, as well as by the frequency of the patient's requests for postoperative analgesics. The salmon calcitonin, treated patients had significantly less postoperative pain. Similarly, the requests for analgesics were significantly lower. Minor side effects such as nausea and vomiting and nervousness were observed in a small number of calcitonin treated group