Neonatal Ultrasound and Radiographic Markers of Hip Dysplasia in Young Adults.

OBJECTIVES: To examine radiologic outcomes at skeletal maturity of sonographically normal, immature, mildly, and severely dysplastic newborn hips. METHODS: During 1988 to 1990, 11 925 newborns were enrolled in a randomized controlled trial examining screening strategies for developmental hip dysplasia. In total, 4469 were invited to clinical and radiologic follow-up 18 years later, of which 1735 had received neonatal ultrasound. Radiographic markers for dysplasia in left adult hips included the center-edge (CE) angle. RESULTS: At follow-up, 984 of 1735 (56.7%) with newborn ultrasound met, of which 966 (614 females) had valid radiographs and were thus included. For females, 34 (10.2%) and 1 (0.3%) of the 332 sonographically normal left neonatal hips were judged borderline (20°≤ CE <25°) or dysplastic (CE <20°) at skeletal maturity respectively. Corresponding numbers were 36 (19.7%) and 3 (1.6%) of the 183 immature, 12 (15.6%) and 2 (2.6%) of the 77 mildly dysplastic, and 3 (13.6%) and 3 (13.6%) of the 22 severely dysplastic neonatal left hips (P ≤ .001). In males, no associations were found. In females, adult joint hypermobility was associated with sonographic neonatal hip instability (P = .046), as well as with adult acetabular dysplasia (P = .024). CONCLUSIONS: Significant associations between neonatal hip phenotypes and adult dysplasia were revealed in females. This indicates the possibility of different mechanisms affecting the course of developmental dysplasia of the hip for females and males, prompting consideration of prolonged clinical and radiologic follow-up for females with dysplastic neonatal hips. Results in males are limited by low numbers of dysplastic hips. The significance of joint hypermobility warrants further investigation.

Comparison of post-mortem vitreous fluid and blood glucose levels in diabetes-induced rabbit models.

Background: Diabetes is a common systemic disease in the world. Acute complications of diabetes may cause sudden unexpected deaths. Analysis done in vitreous fluid which is more protected and less contaminated by bacteria comparing to blood will produce more accurate results. Aim: Thus, we aimed to diagnose diabetes by comparing glucose levels of post mortem blood and vitreous fluid in death cases. Materials and Methods: A total of 17 New Zealand-type rabbits were divided into hyperglycemia (8), hypoglycemia (8), and control group (1). Rabbits were monitored for 5 days after experimental diabetes induction, and samples were taken at the point of death. Later rabbits were left in their environment, and samples were taken again at the post mortem first day. Mean blood glucose levels of hyperglycemia and hypoglycemia group were in diabetic range. Results: Blood glucose levels of hyperglycemic rabbits were measured as 512 ± 52,1 mg/dl, while vitreous glucose levels were 518,3 ± 76,8 mg/dl at the point of death. After one day, levels were measured as 433,9 ± 59,3 mg/dl and 329,8 ± 86,6 mg/dl. Blood glucose levels of hypoglycemic rabbits were measured as 39 ± 3,8 mg/dl, while vitreous glucose levels were 53,4 ± 13,9 mg/dl at the point of death. After one day, levels were measured as 36 ± 4,2 mg/dl and 1,6 ± 0,6 mg/dl. After analysis, there was a statistically significant difference between day 0 and 1 vitreous levels of hypoglycemia group. Conclusion: It can be clearly seen that vitreous fluid samples should be taken in judicial cases with sudden unexpected deaths like diabetes. This will contribute to identification cause of death.

Child deaths due to firearm-related Injuries in Adana, Turkey.

BACKGROUND: Death by firearm is unacceptable for children who need to be under the protection of the state and the family, wherever and however. Firearm-related fatality is common among all ages. One of the causes of this high rate is likely the easy access to firearms. AIM: This study aims to discuss the characteristics of deaths attributable to childhood firearm injuries in Adana, Turkey and to compare them with similar studies. PATIENTS AND METHODS: In this study, the records of 448 (1.97%) cases under 18 years of age who died due to firearm-related injuries among a total of 22,668 cases whose autopsies were performed by the Morgue Department, Council of Forensic Medicine Adana Group Administration between January 1, 2004 and December 12, 2017 were retrospectively evaluated. RESULTS: Age ranged from 45 days to 18 years; 285 cases were male and 163 cases were female, and male/female ratio was 1.7. The majority of cases were between 13 and 18 years of age (n: 340, 76.0%). According to the manner of death, the leading cause was homicide (n: 212, 47.4%) and the most frequently used type of firearm were shotguns (n: 226). Single firearm wound was present in 82.8% of the cases. The location of entrance wounds revealed that 185 wounds were located in the head-neck. Although homicide was the leading manner of death among the overall cases, it was determined that suicide was the leading cause among the 13-18 age group (n: 149). Firearm-related injuries and deaths in children should bring child neglect to the agenda. CONCLUSION: Presence of firearms at home and easy access are the causes of increased firearm injuries and death in children. Easily accessible weapons in homes are often involved in suicides and homicides, as well as accidents, which are more common in young children and adolescents. We believe that the use of firearms outside of the security forces should be prohibited and that strict laws should be enforced on the handling and use of firearms.

The effect of flurbiprofen oral spray and ibuprofen vs ibuprofen alone on postoperative tonsillectomy pain: An open, randomised, controlled trial.

OBJECTIVE: This prospective clinical study was carried out to evaluate the analgesic efficacy and safety of oral spray form of flurbiprofen in the treatment of postoperative pain in tonsillectomy patients. STUDY DESIGN: Open, randomised, controlled clinical study. SETTING: Tertiary care training and research hospital. PARTICIPANTS: One hundred (53 males, 47 females) with an age range of 18-53 years old (mean 27.4 ± 9.3 SD) undergoing tonsillectomy were enrolled in this prospective controlled study. MAIN OUTCOME MEASURES: Patients receiving oral ibuprofen and flurbiprofen as spray form were enrolled as study group (53), whereas patients receiving only oral ibuprofen were enrolled as control group (47) in postoperative period. Postoperative pain was evaluated through visual analogue scale on 12th hour, first, third and seventh days after surgery. RESULTS: The mean maximal pain score of patients who have received flurbiprofen spray and ibuprofen was 3.36 ± 1.93 SD that was statistically lower than the mean maximal pain score of patients who were medicated with only ibuprofen which was 4.06 ± 1.29 SD on postoperative seventh day (P = .013). CONCLUSION: This study revealed that addition of flurbiprofen spray to oral ibuprofen is effective in the management of postoperative pain in tonsillectomy patients with no notable complications.

Bell's palsy in children: Current treatment patterns in Australia and New Zealand. A PREDICT study.

AIM: The aetiology and clinical course of Bell's palsy may be different in paediatric and adult patients. There is no randomised placebo controlled trial (RCT) to show effectiveness of prednisolone for Bell's palsy in children. The aim of the study was to assess current practice in paediatric Bell's palsy in Australia and New Zealand Emergency Departments (ED) and determine the feasibility of conducting a multicentre RCT within the Paediatric Research in Emergency Departments International Collaborative (PREDICT). METHODS: A retrospective analysis of ED medical records of children less than 18 years diagnosed with Bell's palsy between 1 January, 2012 and 31 December, 2013 was performed. Potential participants were identified from ED information systems using Bell's palsy related search terms. Repeat presentations during the same illness were excluded but relapses were not. Data on presentation, diagnosis and management were entered into an online data base (REDCap). RESULTS: Three hundred and twenty-three presentations were included from 14 PREDICT sites. Mean age at presentation was 9.0 (SD 5.0) years with 184 (57.0%) females. Most (238, 73.7%) presented to ED within 72 h of symptoms, 168 (52.0%) had seen a doctor prior. In ED, 218 (67.5%) were treated with steroids. Prednisolone was usually prescribed for 9 days at around 1 mg/kg/day, with tapering in 35.7%. CONCLUSION: Treatment of Bell's palsy in children presenting to Australasian EDs is varied. Prednisolone is commonly used in Australasian EDs, despite lack of high-level paediatric evidence. The study findings confirm the feasibility of an RCT of prednisolone for Bell's palsy in children.

Meta-analysis of the DRD5 VNTR in persistent ADHD.

Attention-Deficit/Hyperactivity Disorder (ADHD) is a common neuropsychiatric disorder with a complex genetic background. DRD5, the gene encoding the dopamine receptor D5, was recently confirmed as a candidate gene for ADHD in children through meta-analysis. In this study, we aimed at studying the association of the ADHD-associated variable number tandem repeat (VNTR) polymorphism upstream of DRD5 with adult ADHD. We compiled data from six sites of the International Multicentre persistent ADHD CollaboraTion (IMpACT) and reached N=6979 (3344 cases and 3635 healthy participants), the largest sample investigated so far. We tested the association of the common DRD5 alleles with categorically defined ADHD and with inattentive and hyperactive/impulsive symptom counts. Our findings provide evidence that none of the common DRD5 alleles are associated with ADHD risk or ADHD symptom counts in adults.

Beneficial effects of hesperidin following cis-diamminedichloroplatinum-induced damage in heart of rats.

BACKGROUND: Increased oxidative stress and histopathological damage have been implicated in the cardiotoxicity that limits the clinical therapy of cisplatin (CP) as an anti-cancer drug. OBJECTIVES: This study aimed to investigate the protective effect of hesperidin (HP) against CP-induced cardiotoxicity in rats. MATERIALS AND METHODS: Rats were divided into four groups (n = 7/group), and the first group served as the control group. Animals in Group CP and Group CP + HP received a single dose of CP (CP - 7 mg/kg); animals in Group HP and Group CP + HP received 50 mg/kg/day HP with gavage for 14 days. At the end of day 14, cardiac tissue samples were histologically and biochemically examined. RESULTS: In this experimental study, thiobarbituric acid reactive substances levels in the cardiac tissue were significantly higher in the CP group, whereas glutathione (GSH), superoxide dismutase (SOD), and CAT levels were significantly lower in this group. On the other hand, GSH and SOD levels in the CP + HP group were similar to the control group. There was no significant difference in cardiac CAT levels between Group CP and Group CP + HP. CONCLUSION: Hesperetin treatment leads to a decrease in oxidative stress, and associated histological damage. The findings of the current study suggest that HP has a protective effect against CP-induced cardiotoxicity.

Epistatic and gene wide effects in YWHA and aromatic amino hydroxylase genes across ADHD and other common neuropsychiatric disorders: Association with YWHAE.

Monoamines critically modulate neurophysiological functions affected in several neuropsychiatric disorders. We therefore examined genes encoding key enzymes of catecholamine and serotonin biosynthesis (tyrosine and tryptophan hydroxylases-TH and TPH1/2) as well as their regulatory 14-3-3 proteins (encoded by YWHA-genes). Previous studies have focused mainly on the individual genes, but no analysis spanning this regulatory network has been reported. We explored interactions between these genes in Norwegian patients with adult attention deficit hyperactivity disorder (aADHD), followed by gene-complex association tests in four major neuropsychiatric conditions; childhood ADHD (cADHD), bipolar disorder, schizophrenia, and major depressive disorder. For interaction analyses, we evaluated 55 SNPs across these genes in a sample of 583 aADHD patients and 637 controls. For the gene-complex tests, we utilized the data from large-scale studies of The Psychiatric Genomics Consortium (PGC). The four major neuropsychiatric disorders were examined for association with each of the genes individually as well as in three complexes as follows: (1) TPH1 and YWHA-genes; (2) TH, TPH2 and YWHA-genes; and (3) all genes together. The results show suggestive epistasis between YWHAE and two other 14-3-3-genes - YWHAZ, YWHAQ - in aADHD (nominal P-value of 0.0005 and 0.0008, respectively). In PGC data, association between YWHAE and schizophrenia was noted (P = 1.00E-05), whereas the combination of TPH1 and YWHA-genes revealed signs of association in cADHD, schizophrenia, and bipolar disorder. In conclusion, polymorphisms in the YWHA-genes and their targets may exert a cumulative effect in ADHD and related neuropsychiatric conditions, warranting the need for further investigation of these gene-complexes. © 2015 The Authors. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Published by Wiley Periodicals, Inc.

Case-control genome-wide association study of persistent attention-deficit hyperactivity disorder identifies FBXO33 as a novel susceptibility gene for the disorder.

Attention-deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder with high heritability. At least 30% of patients diagnosed in childhood continue to suffer from ADHD during adulthood and genetic risk factors may play an essential role in the persistence of the disorder throughout lifespan. To date, genome-wide association studies (GWAS) of ADHD have been completed in seven independent datasets, six of which were pediatric samples and one on persistent ADHD using a DNA-pooling strategy, but none of them reported genome-wide significant associations. In an attempt to unravel novel genes for the persistence of ADHD into adulthood, we conducted the first two-stage GWAS in adults with ADHD. The discovery sample included 607 ADHD cases and 584 controls. Top signals were subsequently tested for replication in three independent follow-up samples of 2104 ADHD patients and 1901 controls. None of the findings exceeded the genome-wide threshold for significance (PGC<5e-08), but we found evidence for the involvement of the FBXO33 (F-box only protein 33) gene in combined ADHD in the discovery sample (P=9.02e-07) and in the joint analysis of both stages (P=9.7e-03). Additional evidence for a FBXO33 role in ADHD was found through gene-wise and pathway enrichment analyses in our genomic study. Risk alleles were associated with lower FBXO33 expression in lymphoblastoid cell lines and with reduced frontal gray matter volume in a sample of 1300 adult subjects. Our findings point for the first time at the ubiquitination machinery as a new disease mechanism for adult ADHD and establish a rationale for searching for additional risk variants in ubiquitination-related genes.

Hesperidin protects testicular and spermatological damages induced by cisplatin in rats.

The clinic usage of cisplatin, an anticancer drug, is limited due to it has many side effects in many systems and organs. In this context, it was aimed to investigate the protective effect of hesperidin, a citrus flavonoid, on testicular and spermatological damages induced by cisplatin in rats. The rats were randomly divided into four groups. The first group was kept as a control. In the second groups, cisplatin was given at the single dose of 7 mg kg(-1) intraperitoneally. In the third group, hesperidin was orally administered at the dose of 50 mg/kg day(-1) for 14 days. In the fourth group, cisplatin and hesperidin were given together at the same doses. Cisplatin treatment caused significant reductions enzymatic (SOD, CAT and GPx) and nonenzymatic (GSH) antioxidants and significant induction level of TBARS. In addition, cisplatin treatment caused decreased sperm motility, epididymal sperm concentration, increased abnormal sperm rate and histopathological damage. In contrast, hesperidin treatment significantly attenuated the harmful effects. In conclusion, this study clearly demonstrated that hesperidin has protective effects on cisplatin-induced reproductive system toxicity depending on its antioxidant properties. Thus, it is thought that hesperidin may be useful against cisplatin toxicity in patients with cancer in terms of reproductive system.

Genome wide association study identifies variants in NBEA associated with migraine in bipolar disorder.

BACKGROUND: Migraine is a common comorbidity among individuals with bipolar disorder, but the underlying mechanisms for this co-occurrence are poorly understood. The aim of this study was to investigate the genetic background of bipolar patients with and without migraine. METHODS: We performed a genome-wide association analysis contrasting 460 bipolar migraneurs with 914 bipolar patients without migraine from the Bipolar Genome Study (BiGS). RESULTS: We identified one genome-wide significant association between migraine in bipolar disorder patients and rs1160720, an intronic single nucleotide polymorphism (SNP) in the NBEA gene (P=2.97 × 10(-8), OR: 1.82, 95% CI: 1.47-2.25), although this was not replicated in a smaller sample of 289 migraine cases. LIMITATIONS: Our study is based on self-reported migraine. CONCLUSIONS: NBEA encodes neurobeachin, a scaffolding protein primarily expressed in the brain and involved in trafficking of vesicles containing neurotransmitter receptors. This locus has not previously been implicated in migraine per se. We found no evidence of association in data from the GWAS migraine meta-analysis consortium (n=118,710 participants) suggesting that the association might be specific to migraine co-morbid with bipolar disorder.

Postoperative analgesic effect of epidural neostigmine following caesarean section.

AIM: The aim of this study was to evaluate the analgesic effects of postoperative epidural administration of neostigmine and morphine in patients scheduled for caesarean section under epidural anaesthesia. MATERIAL AND METHODS: Sixty ASA I-II patients, scheduled for caesarean section under epidural anaesthesia, were randomly allocated into three groups. Neostigmine (10 µg/kg), morphine (3 mg), and saline (6 mL) were administered to the neostigmine, morphine, and control groups, respectively, 30 minutes after the surgery via the epidural catheter. Afterwards, postoperative pain treatment was administered to all patients with a patient-controlled epidural analgesia (PCEA) device, using 0.125% bupivacaine. The patients were followed up for 24 hours. The total volume of local anaesthetics used, the time to first analgesic requirement, analgesic requirements, VAS scores, analgesia quality, first passage of bowel gas, ambulation times, haemodynamic parameters and side effects were evaluated. RESULTS: The time to first analgesic requirement was significantly longer in the morphine group than in the neostigmine and control groups (p<0.01), and in the neostigmine group compared to the control group (p<0.05). The total local anaesthetic consumption and the number of bolus injections were significantly higher in the control group than in the other groups (p<0.01). The first passage of bowel gas occurred significantly sooner in the neostigmine group than in the morphine (p<0.01) and the control (p<0.05) groups. Itching frequency was significantly higher in the morphine group than in the other two groups (p<0.05). VAS scores were similar in the morphine and neostigmine groups. CONCLUSION: Postoperative single-dose epidural neostigmine reduced the 24-hour analgesic requirements but in the chosen doses presented an analgesic effect significantly lower than morphine. Hippokratia 2014; 18 (1): 44-48.

Ketamine is toxic to chondrocyte cell cultures.

Ketamine has been used in combination with a variety of other agents for intra-articular analgesia, with promising results. However, although it has been shown to be toxic to various types of cell, there is no available information on the effects of ketamine on chondrocytes. We conducted a prospective randomised controlled study to evaluate the effects of ketamine on cultured chondrocytes isolated from rat articular cartilage. The cultured cells were treated with 0.125 mM, 0.250 mM, 0.5 mM, 1 mM and 2 mM of ketamine respectively for 6 h, 24 hours and 48 hours, and compared with controls. Changes of apoptosis were evaluated using fluorescence microscopy with a 490 nm excitation wavelength. Apoptosis and eventual necrosis were seen at each concentration. The percentage viability of the cells was inversely proportional to both the duration and dose of treatment (p = 0.002 and p = 0.009). Doses of 0.5 mM, 1 mM and 2mM were absolutely toxic. We concluded that in the absence of solid data to support the efficacy of intra-articular ketamine for the control of pain, and the toxic effects of ketamine on cultured chondrocytes shown by this study, intra-articular ketamine, either alone or in combination with other agents, should not be used to control pain. Cite this article: Bone Joint J 2014; 96-B:989-94.

Use of modified wheat bran for the removal of chromium(VI) from aqueous solutions.

Novel adsorbents, wheat bran (WB) and modified wheat bran (M-WB) with tartaric acid were developed and Cr(VI) adsorption was investigated by changing various parameters. The adsorption increased with contact time and become optimum at 180 min for WB and 200 min for M-WB. When the pH of the solution phase increased, some of toxic Cr(VI) reduced into less toxic Cr(III) on the WB surface. The maximum removal of Cr(VI) from the solution having an initial Cr(VI) concentration of 200 mg L(-1) was obtained at pH 2.0 as 51.0% and 90.0% for WB and M-WB, respectively. Isotherm data of Cr(VI) adsorption on WB and M-WB was described by the Freundlich adsorption model. The adsorption capacity of 4.53 mg of Cr(VI)/g for WB and 5.28 mg of Cr(VI)/g for M-WB was obtained at pH 2 and 2.2 respectively.

Comparison of hydrophobic properties of thoracic duct lymph chylomicrons from rats given different fats or oils by gavage.

Lipoprotein aggregation is generated by hydrophobic nature of lipoproteins that is known to be one of the causes of atherosclerosis. Low density lipoproteins (LDL) has been extensively studied in this respect but not chylomicrons. There is strong evidence that post-prandial triacylglycerol-rich lipoproteins are atherogenic. Because biophysical properties of lipoproteins are largely determined by their lipid compositions, hydrophobic nature of thoracic lymph duct chylomicrons obtained from rats given different fats or oils by gavage was investigated by vortexing-induced aggregation and hydrophobic interaction chromatography. Contrary to LDL, vortexing did not cause aggregation in chylomicrons. Vortexing of fish oil and butter chylomicrons resulted in more prominent reduction in absorbances compared with chylomicrons from other sources that might indicate less micelle stability. Hydrophobic interaction chromatography of fish oil, palm oil and olive oil chylomicrons yielded three fractions, whereas that of sunflower, margarine and butter chylomicrons gave rise to two fractions. These results suggest that surface hydrophobicity of chylomicrons might be heterogenous. Our results also demonstrate that fish oil chylomicrons have less hydrophobicity and lower stability against vortexing compared with chylomicrons from other sources. Considering beneficial effects of fish oil in cardiovascular health, less hydrophobicity together with lower stability might provide an additional atherogeneicity index for lipoproteins.

Fish oil, contained in eicosapentaenoic acid and docosahexaenoic acid, attenuates testicular and spermatological damage induced by cisplatin in rats.

The aim of this study was to investigate the beneficial effects of the fish oil (FO) supplementation on oxidative stress, sperm characteristics and histological alterations in the male reproductive system of rats against cisplatin (CP) toxicity. The rats were divided randomly into 4 equal groups (control, FO, CP and FO + CP). FO was orally administered at the dose of 1 softgel per rat per day for 14 days and CP was intraperitoneally given at the dose of 7 mg kg(-1) with a single injection. In CP + FO group, they were applicated at the same doses and times. The results showed that CP caused a significant oxidative damage via induction of lipid peroxidation and reduction in the antioxidant defence system potency in the testis tissue. In addition, sperm motility and sperm concentration significantly decreased but the abnormal sperm rate and histopathological testicular damage increased with CP treatment. On the other hand, FO treatment prevented oxidative, histopathological and spermatological effects of CP and reversed side effects of CP. In conclusion, FO supplementation had significant beneficial effects against CP toxicity on male reproductive system and toxic effects of CP can be prevented by FO treatment. Therefore, it appears that fish oil may be useful for the prevention and treatment of cisplatin-induced reproductive system toxicity.

DISC1 in adult ADHD patients: an association study in two European samples.

The DISC1 gene was named after its discovery in a Scottish pedigree with schizophrenia (SCZ) patients. However, subsequent studies have shown association of DISC1 variants with a range of different neurocognitive phenotypes and psychiatric disorders, including bipolar disorder (BPD), and major depression. Attention-deficit/hyperactivity disorder (ADHD) shares some symptoms with BPD and ADHD patients often suffer from comorbid affective disorders. We wanted to examine the role of DISC1 in ADHD, and with comorbid symptoms of mood disorders. Eleven single nucleotide polymorphisms (SNPs) previously implicated in SCZ and BPD, and a DISC1 duplication involving exon 1, were genotyped in 561 adult ADHD cases and 713 controls of Norwegian ancestry. The intronic SNP rs1538979 was associated with ADHD in the Norwegian sample [odds ratio (OR): 1.33, 95% confidence interval (CI) 1.03-1.73, P = 0.03] and replicated in a Spanish adult ADHD sample of 694 cases and 735 controls, using the tagging SNP rs11122330 (meta-analysis: P = 0.008, OR 1.25, 95% CI 1.06-1.47). In the Norwegian ADHD sample we also observed an association between the Phe607-variant of rs6675281 and a positive score on the Mood Disorder Questionnaire (MDQ; OR = 1.44, 95% CI 1.08-1.93, P = 0.01). To our knowledge, this is the first study to show an association between DISC1 variants and ADHD. Our study suggests that further studies are warranted to resolve if DISC1 variation is involved in several common neurodevelopmental disorders including ADHD.

Effects of different bladder management methods on the quality of life in patients with traumatic spinal cord injury.

STUDY DESIGN: Multi-center, cross-sectional study. OBJECTIVES: To investigate the effects of different bladder management methods on the quality of life (QoL) in patients with spinal cord injury (SCI). SETTING: Turkey. METHODS: Consecutive SCI patients (n=195, 74.4% males), for whom at least 6 months had elapsed since the injury, were included and evaluated in five groups: normal spontaneous micturition (NSM), micturition with assisted maneuvers (MAM), aseptic intermittent catheterization by patient (IC-P), aseptic IC by an attendant/caregiver (IC-A) and indwelling catheterization. The King's Health Questionnaire was used to evaluate the patients' QoL. RESULTS: The bladder management groups were similar regarding age, time elapsed since injury, education level, marital and occupational status. There was no difference among the groups in general health perception, personal relationships and sleep/energy domain scores. While the NSM group had generally the lowest scores, that is, better QoL, the IC-A group had the highest scores, that is, poorer QoL, in most of the domains. When the patients were grouped according to the frequency of urinary incontinence or American Spinal Injury Association Impairment Scale grades, no difference was found in the domain scores of the groups except the symptom severity domain scores. No significant difference was found between paraplegic and tetraplegic patients in the King's Health Questionnaire domains. CONCLUSION: The QoL was notably affected in SCI patients in IC-A group and negative effects on emotional status, physical and social activity limitations were observed, as well.

DIRAS2 is associated with adult ADHD, related traits, and co-morbid disorders.

Several linkage analyses implicated the chromosome 9q22 region in attention deficit/hyperactivity disorder (ADHD), a neurodevelopmental disease with remarkable persistence into adulthood. This locus contains the brain-expressed GTP-binding RAS-like 2 gene (DIRAS2) thought to regulate neurogenesis. As DIRAS2 is a positional and functional ADHD candidate gene, we conducted an association study in 600 patients suffering from adult ADHD (aADHD) and 420 controls. Replication samples consisted of 1035 aADHD patients and 1381 controls, as well as 166 families with a child affected from childhood ADHD. Given the high degree of co-morbidity with ADHD, we also investigated patients suffering from bipolar disorder (BD) (n=336) or personality disorders (PDs) (n=622). Twelve single-nucleotide polymorphisms (SNPs) covering the structural gene and the transcriptional control region of DIRAS2 were analyzed. Four SNPs and two haplotype blocks showed evidence of association with ADHD, with nominal p-values ranging from p=0.006 to p=0.05. In the adult replication samples, we obtained a consistent effect of rs1412005 and of a risk haplotype containing the promoter region (p=0.026). Meta-analysis resulted in a significant common OR of 1.12 (p=0.04) for rs1412005 and confirmed association with the promoter risk haplotype (OR=1.45, p=0.0003). Subsequent analysis in nuclear families with childhood ADHD again showed an association of the promoter haplotype block (p=0.02). rs1412005 also increased risk toward BD (p=0.026) and cluster B PD (p=0.031). Additional SNPs showed association with personality scores (p=0.008-0.048). Converging lines of evidence implicate genetic variance in the promoter region of DIRAS2 in the etiology of ADHD and co-morbid impulsive disorders.