Background: Posttraumatic stress disorder (PTSD) is an anxiety disorder caused by highly traumatic experiences. The aim of this study was to investigate the influence of single nucleotide ...polymorphisms (SNPs) in the neuropeptide S receptor 1 (NPSR1) and the glutamate decarboxylase 1(GAD1) gene on PTSD and its psychopathological aspects among individuals affected by the Balkan wars during the 90s.
Subjects and methods: This study was conducted as part of the South Eastern Europe (SEE) study on molecular mechanisms of PTSD. It comprised 719 participants (539 males), including those with current PTSD, remitted PTSD and healthy volunteers. Psychometric evaluation was performed using the Mini International Neuropsychiatric Interview (M.I.N.I.), the Clinician Administrated PTSD Scale (CAPS) andthe Brief Symptom Inventory (BSI). We examined NPSR1 single nucleotide polymorphism (SNP) rs324981 and GAD1 variant rs3749034 genotypes. Case-control analyses were carried out using logistical regression to determine genotype differences between all patients that had either current or remitted PTSD and control individuals. To analyse the
influence of the analysed SNPs on PTSD severity, we performed linear regression analyses with CAPS and BSI within each of the two patient groups separately. All of the calculations were performed for additive allelic, recessive, dominant and genotypic models.
Results: We observed a nominally significant association for the major allele (G) of GAD1 rs3749034 with an increased risk to develop PTSD in a case control analysis in the recessive model (P=0.0315, odds ratio=0.47, SE=0.35). In contrast, a nominally significant association of the minor allele (A) with higher CAPS scores was identified within the patient group with lifetime PTSD in the dominant model (P=0.0372, ???=6.29, SE=2.99). None of these results did withstand correction for multiple tests. No nominal significant results of GAD1 rs3749034 were found with regard to the intensity of psychological BSI symptoms. Case control analyses of NPSR1 rs324981 revealed a nominally significant higher risk for homozygous T allele carriers to develop PTSD
(P=0.0452) in the recessive model. On the other hand, the T allele showed a nominally significant association with higher BSI scores in patients suffering from lifetime PTSD in the recessive model (P=0.0434). Again, these results were not significant anymore after correction for multiple tests. No associations of NPSR1 rs324981 and CAPS score was identified.
Conclusion: The findings of this study provide some evidence that the NPSR1 and GAD1 polymorphisms might play a role in the development of war-related PTSD and its related psychological expressions. Further research is needed to elucidate the interactions of specific gene variants and environmental factors in the development of PTSD.
Background. Previous studies have shown impaired fibrinolysis in multiple sclerosis (MS) and implicated extracellular proteolytic enzymes as important factors in demyelinating neuroinflammatory ...disorders. Tissue-type plasminogen activator (t-PA) and its inhibitor (PAI-1) are key molecules in both fibrinolysis and extracellular proteolysis. In the present study, an association of the TPA Alu I/D and PAI-1 4G/5G polymorphisms with MS was analyzed within the Genomic Network for Multiple Sclerosis (GENoMS). Methods. The GENoMS includes four populations (Croatian, Slovenian, Serbian, and Bosnian and Herzegovinian) sharing the same geographic location and a similar ethnic background. A total of 885 patients and 656 ethnically matched healthy blood donors with no history of MS in their families were genotyped using PCR-RFLP. Results. TPA DD homozygosity was protective (OR = 0.79, 95% CI 0.63–0.99, P=0.037) and PAI 5G5G was a risk factor for MS (OR = 1.30, 95% CI 1.01–1.66, P=0.038). A significant effect of the genotype/carrier combination was detected in 5G5G/I carriers (OR = 1.39 95% CI 1.06–1.82, P=0.017). Conclusions. We found a significantly harmful effect of the combination of the PAI-1 5G/5G genotype and TPA I allele on MS susceptibility, which indicates the importance of gene-gene interactions in complex diseases such as MS.
The aim of the study was to determine the incidence and types of speech disorders in patients with acute stroke. The study was performed in 936 acute stroke patients admitted to University Department ...of Neurology, Tuzla University Clinical Center, in the period from January 1, 2007 through December 31, 2008. Out of 936 study patients, speech disorders were verified on admission in 771 (82.37%) patients. Dysarthria was present in 540 (57.69%) and aphasia in 231 (24.67%) patients. In the group with speech disturbances, dysarthria was present in 70.04% and aphasia in 29.96% of patients. During hospital stay, lethal outcome was recorded in 51 patients, significantly higher in the group with speech disorders (P = 0.004). At discharge from the hospital, speech disorders persisted in 671 (75.81%), dysarthria in 468 (69.75%), and different types of aphasia in 203 (30.25%) of 885 surviving patients. Among patients with aphasia at both admission and discharge, global aphasia was most common, followed by motor aphasia (Broca's aphasia) and nominal aphasia. Although the rate of patients with speech disorders was lower at discharge, the difference was not statistically significant. On admission, 82.37% of patients were considered to have a speech-language disorder, dysarthria being most common. Concerning the type of aphasia, global aphasia was most frequent. Study results suggested the importance and need of speech-language therapy in the early rehabilitation of post-stroke patients; it should be initiated during their hospital stay and continued at long-term.
Objective. To examine whether short-term postnatal health-related quality of life differed among women after different methods of cesarean sections.
Methods. One hundred forty-five women were ...evaluated with previous CS (85 by Misgav Ladach and 60 by Pfannenstiel-Dörffler). Short-time quality of life was measured using the Croatian version of Short Form Health Survey (SF - 36). Short-term postoperative recovery was assessed using two criteria: febrile morbidity and degree of pain. Incidence of peritoneal adhesions was assigned using Bristow scoring system.
Results. Four weeks after delivery women with previous Misgav Ladach cesarean section significantly scored higher on the bodily pain (72.4 vs. 56.7, p < 0.05), social functioning (71.5 vs. 60.4, p < 0.05), and the vitality (61.7 vs. 50.3, p < 0.05) subscales. These differences disappeared in the second assessment (12-weeks postpartum) except in the bodily pain (74.7 vs. 61.2, p < 0.05) subscale. There was a significant trend toward a higher requirement for postoperative analgesics in the Pfannenstiel-Dörfler group (doses: 5.4 vs. 8.7, p < 0.05; hours: 17.9 vs. 23.3, p < 0.05), and they had a significantly higher rate of febrile morbidity than the Misgav Ladach group (5.7 vs. 9.4%, p < 0.05). Hospitalization time was reduced in the Misgav Ladach group (4.2 vs. 7.3, p < 0.05). The incidence of adhesions was significantly lower in patients who had undergone a previous operation using the original Misgav Ladach method (0.47 vs. 0.77, p < 0.05).
Conclusion. Misgav Ladach cesarean section method might lead to better short-time quality of life resulting in reducing postoperative complications compared to Pfannenstiel-Dörfler cesarean section method.
Metabolic myopathies represent a small percentage of rhabdomyolysis causes that could lead to acute kidney injury (AKI). This could be prevented if this condition is suspected and timely treated. ...Carnitine palmityl transferase (CPT) deficiency is the most frequent metabolic myopathy and should be considered whenever recurrent myoglobinuria is suspected, and distinguished from the second frequent one, McArdle disease. We present a case of a patient with two medically misinterpreted episodes of AKI in whom the subsequent diagnosis of CPT deficiency was established based on high index of clinical suspicion and correlation of clinical manifestations to specific metabolic defects. Application of simple measures and lifestyle changes improved our patient's life quality and prevented potential new life-threatening complications.
Anatomske varijacije u inervaciji na ekstremitetima su česte i utječu na tumačenje elektrofizioloških analiza, kako u zdravih ispitianika tako isto i onih s lezijama perifernih živaca. Cilj ovog ...članka je
bio opisati najčešće anatomske varijacije u inervaciji gornjih i donjih ekstremiteta i ukazati na njihov klinički značaj. Metode: Članak ima analitički karakter i pregled literature, uključujući neke osobne članke. Rezultati i Diskusija: Dvostruke inervacije i komunikacije između živaca uzrokuju anomalne inervacije kože i mišićia. Terminološki, komunikaciju vlakana među živicima bolje je nazvati „komunikacija među živcima“ nego živčana anastomoza“. Anomalne inervacije na gornjim i donjim ekstremitetima su, dakle česte i utječu na tumačenje neurofizioloških parametara u tijeku elektormi- oneurografije. Naime, tijekom elektrodijagnostičkog ispitivanja lezije perifernog živca, ispitivač se može suočiti s neočekivanim nalazima koji mogu biti u suprotnosti s prezentiranom kliničkom slikom. U ovom preglednom članku dan je opis najčešćih anomalija u inervaciji gornjih i donjih ekstremiteta: komunikacija između medijanusa i ulnarisa (Martin-Gruberova anastomoza); komunikacija koja ide od ulnarnog prema medijalnom živcu (Marinacci-jeva anastomoza); varijacija u inervaciji intrizičkih mišića šake (Riche-Cannieu-ova anastomoza; Berrettini-jeva anastomoza); akcesorni duboki peronelani živac i komunikacija između tibijalnog i peronelanog živca. Zaključak: Kako su anatomske varijacije u inervaciji ekstremiteta česte i utječu na interpretaciju elektrofizioloških analiza, kako u zdravih subjekata, tako isto i u onih s lezijma perifernih živaca, detaljna anatomska znanja su ključna za točnu interpretaciju fizikalnog pregleda, elektrofizioloških anliza, dijagnostičkog zaključka, progonoze i sman- jenja rizika od nastanka jatrogenog oštećenja tijekom kirurških zahvata. Ako se ove varijacije ne uzmu u obzir, pogreške i druge posljedice bit će neizbježne.
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