Demonstration of false inclusion risks of duo parentage analyses in the Turkish population in light of parentage acceptance criteria

In routine parentage tests, trio analyses (father-mother-child) are preferred. Under certain circumstances, laboratories may have to perform duo analysis (without mother/father). However, duo analyses increase the risk of false inclusions. This paper aimed to evaluate the false inclusion risks of duo analyses in the Turkish population from the point of forensic applications and the Turkish judicial system. Children from 400 previously analysed cases were compared separately with fathers and mothers of other cases by using a computer programme. From the total 345,006 comparisons, in 16 comparisons, no Short Tandem Repeat (STR) mismatch was observed at 15 STR loci between the child and an unrelated parent. In other words, duo tests provided a coincidental second mother or father to 16 children. In almost all of these cases, the probabilities of paternity estimation values are greater than Turkish Judicial System’s parentage acceptance limit, which is 99.73%. According to results, we suggested that trio cases should be performed as much as possible and the parentage acceptance limit, which is 99.73%, should be re-evaluated by a law maker’s commission to prevent false inclusion parentage cases in Turkey.     

Primary hypertrophic osteoarthropathy

In this article a family with five members suffering from primary hypertrophic osteoarthropathy (PHO) is reported. Our cases are characterized by swollen and painful joints and clubbing of distal phalanges of hands and feet. The diagnosis made upon radiological and clinical findings.     

Monoamine oxidase-B activity in alcohol withdrawal of smokers: is there any relationship with aggressiveness?

There is a considerable inconsistency in terms of the association between alcoholism and alterations in monoamine oxidase (MAO) activity. The main objectives of this study were to investigate the changes in platelet MAO-B activity throughout the alcohol withdrawal period and whether or not MAO-B activity differed between patients with high- and low-aggression tendency. We assayed platelet MAO-B levels spectrophotometrically in 22 male inpatients with alcohol dependence in their first and fourth weeks of withdrawal and in 20 healthy controls. Patients were divided into two high- and low-aggression subgroups according to scores obtained in a Brown-Goodwin Assessment for Life History of Aggression. Our data revealed that the significantly lower platelet MAO-B activity observed during the first week of alcohol withdrawal in patients, compared to controls, did not continue in the fourth week, and that there was no relationship between aggressiveness and MAO activity. These results suggest that low platelet MAO activity may be a state marker of alcohol withdrawal period or a result of high alcohol consumption rather than a trait marker of alcoholism.     

Effects of electroconvulsive therapy on hypothalamic-pituitary-thyroid axis activity in depressed patients

In this study, the authors aimed to test the hypothesis that electroconvulsive therapy (ECT) may cause some alterations in hypothalamic-pituitary-thyroid (HPT) axis hormones and these responses may change throughout respective ECT sessions. Nineteen depressed inpatients (8 males, 11 females; mean age+/-S.D.: 44.77+/-10.59 years) considered suitable for ECT were included in the study. Each patient was exposed to 7 ECT sessions with general anaesthesia. The blood samples for measurements of thyroid-stimulating hormone (TSH), free thyroiodothyronine (fT3) and free thyroxine (fT4) were drawn before (baseline) and after propofol, immediately after ECT, and 30 and 60 min after ECT during the first and last (seventh) ECTs. In both the first and seventh ECTs, there was a significant increase in TSH levels 30 min after ECT compared to the pre-ECT values. Additionally, a significant decrease in post-ECT fT4 values compared to the baseline values was found only during the seventh ECT. No difference was detected in the TSH, fT3 and fT4 responses to ECT between males and females, and between bipolar and unipolar depressive patients. These results show that ECT may have some effects on the HPT system. However, whether there is a relationship between these neuroendocrine responses and the therapeutic effect of ECT is not clear.     

Four cases of neonatal non-ketotic hyperglycinaemia

Non-ketotic hyperglycinaemia is an autosomal recessive disorder of glycine metabolism caused by a defect in the glycine cleavage system. Affected neonates present with lethargy, feeding difficulty, hypotonia, apnoea, poorly controlled convulsions and coma. Four cases are reported, three of whom died in the neonatal period. The fourth case was treated with dextromethorphan and sodium benzoate. He survived with neurodevelopmental delay but is now almost seizure-free.     

In vitro effect of levofloxacin and vancomycin combination against high level aminoglycoside-resistant enterococci

The in vitro effects of levofloxacin and vancomycin in combination were evaluated against high level aminoglycoside-resistant (HLAR) enterococci using chequerboard and time-kill curve techniques. We examined 28 strains of enterococci comprising 17 Enterococcus faecalis, 10 E. faecium and one E. durans. The combination of vancomycin and levofloxacin had indifferent activity against all isolates according to chequerboard microdilution method, but was synergistic for two isolates, one E. faecium and one E. faecalis, using the time-kill curve method. Both strains were levofloxacin resistant and had high level aminoglycoside resistance to gentamicin and streptomycin. Antagonism was not detected in any strain. The results of this study suggested that the combination of vancomycin with levofloxacin does not often show synergistic effect against high level aminoglycoside-resistant enterococci.     

Consistence of miniexon polymerase chain reaction-restriction fragment length polymorphism and single-copy gene sequence analyses in discriminating Leishmania genotypes

Recently, a new polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP)-based assay had been developed using the miniexon sequences for genotyping Leishmania isolates. We had used this method for rapid diagnosis and genotyping of visceral and cutaneous leishmaniasis with the combination of microcapillary cultivation. In this study, we have evaluated this approach by examining genomic DNAs from 47 independent isolates, which were grouped into 19 genotypes of Leishmania subgenus complexes by sequence polymorphism of single-copy genes. Results obtained provide miniexon RFLP configurations specific to Leishmania enriettii, Leishmania tarentolae, and Leishmania gerbilli for the first time. Altogether, 92% of the results from miniexon PCR-RFLP are in agreement with those based on the sequence database of single-copy genes from the same isolates. The miniexon PCR-RFLP method is simple, sensitive, and specific method useful for routine diagnosis of different Leishmania.     

Evaluation of nutritional status and factors related to malnutrition in children on CAPD.

OBJECTIVE: The aim of this study was to investigate the nutritional status of children on continuous ambulatory peritoneal dialysis (CAPD) and to relate it to the dose of dialysis and serum levels of inflammatory cytokines and insulin-like growth factor-1 (IGF-1). PATIENTS: 17 CAPD patients (8 girls, 9 boys; mean age 13.1 +/- 3.5 years, median 15 years) were included in the study. Anthropometric measurements and serum albumin levels were used in the evaluation of nutritional status. Serum interleukin (IL)-1beta, IL-6, tumor necrosis factor alpha, and IGF-1 levels were determined in all CAPD patients and in a healthy control group. Weekly Kt/V and creatinine clearance (CCr) were measured to determine adequacy of dialysis. RESULTS: The mean dialysis period was 23.7 +/- 15.2 months (median 23 months). Anthropometric measurements and serum albumin level were as follows: height 130.2 +/- 15.6 cm, height standard deviation score (HtSDS) -4.2 +/- 2.4, body mass index (BMI) 16.3 +/- 1.6 kg/m2, body mass index standard deviation score (BMISDS) -0.8 +/- 0.9, triceps skinfold thickness (TST) 4.2 +/- 1.4 mm, midarm circumference (MAC) 16.21 +/- 2.3 cm, upper arm muscle area (AMA) 1799.1 +/- 535.7 mm2, upper arm fat area (AFA) 334.5 +/- 143 mm2, and serum albumin 3.1 +/- 0.7 g/dL. The BMI was above the fifth percentile in all patients; TST and MAC were below the fifth percentile in 14 patients (82.4%) and 10 patients (58.8%) respectively. The AMA was below the fifth percentile in 8 patients; however, the AFA was below the fifth percentile in all patients. Mean serum albumin level was under 3.5 g/dL in 70.5% of the children. We found significant positive correlations between BMI and Kt/V (r = 0.69, p < 0.01), CCr (r = 0.64, p < 0.05), and IL-6 (r = 0.61, p < 0.01). There was an inverse correlation between BMISDS and dialysis period (r = -0.58, p < 0.05); and between IL-6 and serum albumin (r = -0.49, p < 0.05). A significant positive correlation between BMISDS and serum IGF-1 level (r = 0.62, p < 0.01) was noted. We also found a significant positive correlation between serum IGF-1 level and both HtSDS (r = 0.57, p < 0.05) and TST (r = 0.52, p < 0.05). Significant positive correlations between AFA and CCr and IGF-1 were also noted (both r = 0.56, p < 0.05). CONCLUSION: Although many factors may be responsible for malnutrition and growth retardation, we found that prolonged period of dialysis, inadequate dialysis, and low IGF-1 levels are the most important risk factors in CAPD patients.