Cognition of the mothers of patients with Duchenne muscular dystrophy

Duchenne muscular dystrophy (DMD) has been found to be associated with cognitive impairment. However, few studies have addressed cognitive impairment among mothers of children with DMD. In the present study, the neuropsychological profiles of both carrier mothers (C-Ms) and noncarrier mothers (NC-Ms) were examined, and the findings were compared with healthy control mothers (HC-Ms). There were 90 participants, consisting of 31 C-Ms, 24 NC-Ms, and 35 HC-Ms, each of whom completed a neuropsychological test battery. C-Ms had poorer cognition performance in attention, working memory, immediate verbal memory, visuospatial skills, and executive functions than NC-Ms, and HC-Ms. This study provides evidence that there may be cognitive impairment in mothers of patients with DMD. The cognitive impairment of C-Ms has similarities to that seen in children with DMD.     

Characteristics of Polycystic Ovarian Syndrome and Relationship with Ghrelin in Adolescents

ObjectiveSome points of pathogenesis in polycystic ovarian syndrome (PCOS) are still unknown. In this study we evaluated the characteristics of this disease and its relationship with ghrelin in adolescence.DesignA prospective case control study was designed. Four groups: obese PCOS (n = 13), lean PCOS (n = 13), obese control (n = 10) and lean control (n = 10) were formed. Oral glucose tolerance tests (OGTT) were performed on all subjects. Laboratory and clinical features of groups were compared.SettingUniversity pediatric endocrinology clinic.ParticipantsAdolescents with PCOS.InterventionsNone.Main Outcome MeasuresInsulin resistance, ghrelin, delta ghrelin (difference of ghrelin between basal and 120^th minute after OGTT), androgensResultsInsulin resistance ratios were 93.3%, 46.6%, 50% in obese PCOS, lean PCOS and obese controls respectively. Ghrelin levels were lower in obese PCOS group but statistically different only between obese and lean PCOS groups. Ghrelin was correlated negatively with HOMA-IR (P < 0.001), 17 OH progesterone (P = 0.05), total (P = 0.015) and free testosterone (P = 0.013). Ghrelin suppression was blunted in PCOS groups. Ghrelin suppression ratios after glucose load were 24.4%, 28.7%, 36%, 35% obese PCOS, lean PCOS, obese control and lean control groups respectively.ConclusionLow ghrelin levels in obese PCOS patients, correlations between insulin resistance, androgens and ghrelin, blunted suppression of ghrelin after glucose load in PCOS have been considered as evidences of ghrelin role in pathogenesis of this syndrome.     

The effect of the nitric oxide synthesis inhibitor L-NAME on amitriptyline-induced hypotension in rats

OBJECTIVE: Hypotension induced by tricyclic antidepressants is multifactorial. Previous animal experiments suggest a contribution from nitric oxide production. Our study aimed to evaluate the role of nitric oxide in amitriptyline-induced hypotension using N-nitro-L-arginine methyl ester, a nitric oxide synthesis inhibitor, and 3-morpholino sydnonimine, a nitric oxide donor, in anesthetized rats. METHODS: Amitriptyline intoxication was induced by the continuous infusion of amitriptyline 0.625 mg/kg/min throughout the experiment in anesthetized rats. Fifteen and 25 minutes after amitriptyline infusion began, two bolus doses of 10 mg/kg of N-nitro-L-arginine methyl ester (n = 8) or an equivalent volume of 5% dextrose solution (n = 8) was administered to each rat (Protocol 1). To investigate whether the effect of N-nitro-L-arginine methyl ester on blood pressure is counteracted by 3-morpholino sydnonimine, after the same protocol of amitriptyline infusion and 5 minutes after an N-nitro-L-arginine methyl ester bolus, a bolus of 3000 nmol/kg of 3-morpholino sydnonimine was administered (n = 8) to each rat (Protocol 2). To investigate the effect of N-nitro-L-arginine methyl ester on 3-morpholino sydnonimine induced hypotension, a group of rats received a continuous infusion of 0.54 mg/kg/h of 3-morpholino sydnonimine until 50% reduction was observed in mean arterial blood pressure followed by a bolus dose of 10 mg/kg of N-nitro-L-arginine methyl ester (n = 6) or 5% dextrose solution (n = 6) (Protocol 3). Outcome measures included mean arterial blood pressure, heart rate, and QRS duration in electrocardiogram. Student's t test and survival analysis were used for selected comparisons. RESULTS: For all parameters, the treatment groups were similar at baseline and at postamitriptyline periods before therapy was rendered. Amitriptyline infusion significantly reduced mean arterial blood pressure by 50.8 +/- 2.2% and prolonged QRS by 23.9 +/- 7.2% after 15 minutes. In Protocol 1, N-nitro-L-arginine methyl ester significantly increased mean arterial blood pressure compared to dextrose-treated control animals within 30 minutes (77.9 +/- 8.5% vs. 49.7 +/- 5.0% mmHg, p < 0.01, 95% CI 57.1-98.7%). QRS duration progressively increased during the amitriptyline infusion; however, there was no significant difference in QRS width between N-nitro-L-arginine methyl ester and control groups at any time point. N-nitro-L-arginine methyl ester increased survival time compared to controls (33.4 +/- 4.1 vs. 19.9 +/- 2.7 minutes, p < 0.01, 95% CI 25.4-41.3) but did not affect mortality. In Protocol 2 of continuous infusion of amitriptyline, 3-morpholino sydnonimine counteracted the N-nitro-L-arginine methyl ester-induced increase in mean arterial blood pressure. In both protocols, heart rate decreased significantly during amitriptyline infusion but there was no difference between treatment and control groups. In Protocol 3, N-nitro-L-arginine methyl ester bolus reversed 3-morpholino sydnonimine-induced hypotension compared to dextrose bolus. (83.8 +/- 5.7% vs. 54.6 +/- 4.8%, p < 0.01, 95% CI 69.2-98.4). CONCLUSION: N-nitro-L-arginine methyl ester is found to be effective in temporarily improving hypotension and prolonging survival time but does not affect overall mortality. Because this effect was antagonized by 3-morpholino sydnonimine, nitric oxide production appears to contribute to the pathophysiology of amitriptyline-induced hypotension.     

Serum acetylcholinesterase and prognosis of acute organophosphate poisoning

OBJECTIVE: The aim of this study is to investigate the prognostic value of serum acetylcholinesterase levels and their relationship with neurological syndromes (Type 1 syndrome, intermediate syndrome, and delayed polyneuropathy) in acute organophosphate poisoning. MATERIALS AND METHODS: Thirty-two consecutive patients with acute organophosphate poisoning admitted to the Ondokuz Mayis University Emergency Department from June 1999 to January 2001 were evaluated. Patients were assessed according to admission time, symptoms, and results of clinical exams and their serum acetylcholinesterase levels were determined on days 1, 2, 3, 7, and the last day. RESULTS: There was no significant difference between the first-day serum acetylcholinesterase of the patients with severe poisoning (n = 22, 68.75%) and of the patients with mild poisoning (n = 10, 31.25%; NS). There was no discernible difference between the serum acetylcholinesterase obtained on days 1 and 3 after poisoning from the patients with intermediate syndrome (n = 5, 15.6%; means: 0.90 +/- 0.65 vs. 0.88 +/- 0.53, 19.35 vs. 18.92%; NS, sensitivity = 80%; specificity = 87.5%). There was a significant difference between the serum acetylcholinesterase obtained on days 1 and 3 from the patients with nonintermediate syndrome (n = 24, 75%; means: 1.05 +/- 0.24 vs. 1.68 +/- 0.29, 22.58 vs. 36.12%; p < 0.001). There was no discernible significant difference in serum acetylcholinesterase between the patients with organophosphorus-induced delayed polyneuropathy (n = 7, 21.8%) and nonorganophosphorus-induced delayed polyneuropathy. In the patients who died (n = 5, 15.6%), serum acetylcholinesterase showed no discernible increase day 1-the last day (means: 0.50 +/- 0.25 vs. 0.46 +/- 0.26, 10.75 vs. 9.89%; NS). There was a significant difference between the serum acetylcholinesterase levels obtained on days 1 and the last day from the patients who survived (n = 27, 84.3%; means: 1.14 +/- 0.25 vs. 2.32 +/- 0.26, 24.51 vs. 49.89%; p < 0.001). CONCLUSION: In the acute phase of organophosphate poisoning, low serum acetylcholinesterase (> 50% of minimum normal value) supports the diagnosis of organophosphate poisoning but it does not show a significant relationship to the severity of poisoning (NS). The serum acetylcholinesterase activity may be a useful parameter in following the acute prognosis of organophosphate poisoning.     

Basic toxicological approach has been effective in two poisoned patients with amitraz ingestion: case reports

Amitraz, a formamidine insecticide and acaricide used in veterinary practice, presents side effects in humans related to its pharmacological activity on alpha 2-adrenergic receptors. There is little information available in the literature about the toxicology of the product in man and the treatment of this poisoning. In this report, the clinical and laboratory features of amitraz poisoning in two patients by a veterinary formulation also containing xylene are presented. The major clinical findings were unconsciousness, drowsiness, respiratory failure requiring mechanical ventilation, miosis, hypothermia and bradycardia. The laboratory findings were hyperglycemia, hypertransaminasemia and increased urinary output. Supportive management of this poisoning in humans is suggested in only a few articles and there is no specific antidote for the subsequent possible pharmacological effects of amitraz. In our two cases, we performed supportive treatment such as mechanical ventilation, atropine, gastric lavage, active carbon, oxygen and fluid administration. We concluded that the basic approach to the patient with amitraz poisoning, including initial stabilization to correct immediate life-threatening problems, treatment to reduce absorption and measures to improve elimination of the toxin, is effective.     

Relationship between SP1 polymorphism and osteoporosis in β-thalassemia major patients

Background: β-Thalassemia is an autosomal recessive disease characterized by defective β-globin chain production. Osteoporosis is an important cause of morbidity in patients with β-thalassemia major. The pathogenesis of reduced bone mineral density (BMD) is multifactorial. A range of genetics factors have been implicated in other populations of patients with osteoporosis. Polymorphism at the Sp1 binding site of the collagen type I A1 ( COLIA1 ) gene is thought to be an important factor in the development of osteoporosis.
Methods: Alleles S and s , detected by presence of a G or T nucleotide, respectively in a regulatory site of the COLIA1 gene were investigated in 37 β-thalassemia major patients with osteoporosis and 92 controls without osteoporosis or osteopenia using polymerase chain reaction–restriction fragment length polymorphism.
Results: Fifteen and nine β-thalassemia major patients displayed SS and Ss genotypes, respectively, whereas 13 were found to have an ss genotype. The mean BMD of the β-thalassemia major patients with ss genotype was similar to those with the Ss and SS genotypes. In the control group, 77 and 15 subjects had SS and Ss genotypes, respectively, with no ss genotype. Allelic and genotypic distribution in patients were significantly different from controls.
Conclusion: Determining base substitutions at the Sp1 binding site on the COLIA1 gene in early years may be important in preventing osteoporosis in children with β-thalassemia major.     

Is indomethacin harmful in spinal cord injury treatment? An experimental study

This study was designed to analyze the effect of early indomethacin on the lipid peroxidation after spinal cord injury in rats. The use of anti-inflammatory drugs to affect delayed and secondary injury after trauma to the spinal cord has now become a matter of standard clinical practice. However, spinal cord injury remains an enormous clinical problem and research that may lead to improved treatment is to be encouraged and commended. Three experimental groups consisting of 40 rats each were formed. Using microsurgical technique, total laminectomy between T5 and T10 was performed. Spinal cord injury was achieved with an epidural aneurysm clip, and pharmacological treatment immediate after the injury was performed by injecting indomethacin intraperitoneally (i.p.) at a dose of 3 mg/kg to indomethacin-treated group. The three main groups were divided into subgroups of 8 rats each. It was planned to stop the biochemical reactions at a different time in each of these subgroups, by the application of liquid nitrogen to the spinal cord and paravertebral structures at the end of the 1st, 15th, 30th, 60th, and 90th minutes. All the spinal cords were removed and protected from further reactions by immersing in the liquid nitrogen tank. The lipid peroxidation levels were assessed by determining thiobarbituric acid reactive substances formation. The results of the study showed that the administration of 3 mg/kg indomethacin immediately after spinal cord injury induces lipid peroxidation to a significant degree (p<0.05 one-way ANOVA and Tukey HSD tests) when compared to the saline-treated group. This result suggests that early posttraumatic indomethacin treatment may be harmful in spinal cord injury.     

Comparison of two different bone anchored hearing instruments: Baha-5 vs Ponto-plus

Background: To our knowledge, there is no study comparing Ponto Plus^® (Oticon Medical AB, Askim, Sweden) and Baha^® 5 (Cochlear Bone Anchored Solutions AG, Mölnlycke, Sweden) available in the literature.

Aims/objectives: The primary aim was to compare the performance of the Baha 5 with the Ponto Plus device in terms of speech understanding in quiet and in noise. In addition, to determine statistically whether or not the difference between the abutment systems created any variation in terms of skin reaction.

Materials and methods: Twenty bone-anchored hearing instrument users, ten in each group, were evaluated for speech understanding in quiet and several signal-to-noise ratios using the Turkish Matrix Test in a two-speaker setup. The Holger classifications were also reviewed to determine adverse skin reactions.

Results: It was revealed that the hearing results of both devices were similar and, when the skin reactions were compared, there was no statistically significant difference between the two-implant systems.

Conclusions and significance: Because of the similar results of the groups, it can be interpreted as the key different device features such as the size, weight, colour alternatives, and the ease of use of the devices might be important in terms of device preference.