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Quarterly published in print and online â??Inventi Rapid/Impact: Psychiatry & Neurology (Formerly Inventi Rapid/Impact: Brain)â?? publishes high quality unpublished as well as high impact pre-published research and reviews catering to the needs of researchers and professionals. The journal welcomes papers in all the areas of the nervous system structure and function that are of general interest to the international community of neuroscientists ranging from cellular and molecular studies through systems neuroscience, cognition and diseases.
Background: We report on a 6-year-old Turkish boy with profound sensorineural deafness, balance disorder, severe\r\ndisorder of oral motor function, and mild developmental delay. Further findings included scaphocephaly,\r\nplagiocephaly, long palpebral fissures, high narrow palate, low-set posteriorly rotated ears, torticollis, hypoplastic\r\ngenitalia and faulty foot posture. Parents were consanguineous.\r\nMethods and results: Computed tomography and magnetic resonance imaging showed bilateral single widened\r\ncochlear turn, narrowing of the internal auditory canal, and bilateral truncation of the vestibulo-cochlear nerve.\r\nMicroarray analysis and next generation sequencing showed a homozygous deletion of chromosome 5q31.1\r\nspanning 115.3 kb and including three genes: NEUROG1 (encoding neurogenin 1), DCNP1 (dendritic cell nuclear\r\nprotein 1, C5ORF20) and TIFAB (TIFA-related protein). The inability to chew and swallow, deafness and balance\r\ndisorder represented congenital palsies of cranial nerves V (trigeminal nerve) and VIII (vestibulo-cochlear nerve) and\r\nthus a congenital cranial dysinnervation disorder.\r\nConclusions: Based on reported phenotypes of neurog1 null mutant mice and other vertebrates, we strongly\r\npropose NEUROG1 as the causative gene in this boy. The human NEUROG1 resides within the DFNB60 locus for\r\nnon-syndromic autosomal recessive deafness on chromosome 5q22-q31, but linkage data have excluded it from\r\nbeing causative in the DFNB60 patients. Given its large size (35 Mb, >100 genes), the 5q22-q31 area could harbor\r\nmore than one deafness gene. We propose NEUROG1 as a new gene for syndromic autosomal recessive hearing\r\nloss and congenital cranial dysinnervation disorder including cranial nerves V and VIII....
Background: Regular exercise can have positive effects on both the physical and mental health of individuals with\nschizophrenia. However, deficits in cognition, perception, affect, and volition make it especially difficult for people\nwith schizophrenia to plan and follow through with their exercising intentions, as indicated by poor attendance and high\ndrop-out rates in prior studies. Mental Contrasting and Implementation Intentions (MCII) is a well-established strategy to\nsupport the enactment of intended actions. This pilot study tests whether MCII helps people with schizophrenia in highly\nstructured or autonomy-focused clinical hospital settings to translate their exercising intentions into action.\nMethods: Thirty-six inpatients (eleven women) with a mean age of 30.89 years (SD = 11.41) diagnosed with schizophrenia\nspectrum disorders from specialized highly structured or autonomy-focused wards were randomly assigned to\ntwo intervention groups. In the equal contact goal intention control condition, patients read an informative\ntext about physical activity; they then set and wrote down the goal to attend jogging sessions. In the MCII\nexperimental condition, patients read the same informative text and then worked through the MCII strategy. We\nhypothesized that MCII would increase attendance and persistence relative to the control condition over the course\nof four weeks and this will be especially be the case when applied in an autonomy-focused setting compared to when\napplied in a highly structured setting.\nResults: When applied in autonomy-focused settings, MCII increased attendance and persistence in jogging group\nsessions relative to the control condition. In the highly structured setting, no differences between conditions were\nfound, most likely due to a ceiling effect. These results remained even when adjusting for group differences in the\npre-intervention scores for the control variables depression (BDI), physical activity (IPAQ), weight (BMI), age, and\neducation. Whereas commitment and physical activity apart from the jogging sessions remained stable over the\ncourse of the treatment, depression and negative symptoms were reduced. There were no differences in pre-post\ntreatment changes between intervention groups.\nConclusions: The intervention in the present study provides initial support for the hypothesis that MCII helps patients to\ntranslate their exercising intentions into real-life behavior even in autonomously-focused settings without social control....
Noonan syndrome (NS) was described by Noonan and Ehmke as a multi-system disorder, which is typically evident at\nbirth. The incidence of this syndrome is estimated to be one per 1000 to one per 2500 and affects both genders. While the\nclinical manifestations of Noonan syndrome have been well documented, the oral manifestations have not been extensively\ndiscussed. The purpose of the present study was to a) review the physical manifestations of Noonan syndrome reported in the\nliterature and b) describing one case report of female of Noonan syndrome, who was presented with short stature, hypo plastic\nuterus problems along with various problems like shielded chest, no development secondary sexual characters and reduced\nhormone levels. Based on this case study we concluded that many physical anomalies may have possible relationships with\nNoonan syndrome and also the patient has pineal gland epidermoid cyst which led to disturbances in the circadian rhythms of\nthe patient, it�s rare complication, which require multidisciplinary treatment planning and timely management. The importance\nof physical findings in Noonan syndrome has largely gone unnoticed and it is essential to consider physical manifestations as\nscoring criteria in the diagnosis of Noonan syndrome....
Background: During normal semantic processing, the left hemisphere (LH) is suggested to restrict right\r\nhemisphere (RH) performance via interhemispheric suppression. However, a lesion in the LH or the use of\r\nconcurrent tasks to overload the LH�s attentional resource balance has been reported to result in RH disinhibition\r\nwith subsequent improvements in RH performance. The current study examines variations in RH semantic\r\nprocessing in the context of unilateral LH lesions and the manipulation of the interhemispheric processing\r\nresource balance, in order to explore the relevance of RH disinhibition to hemispheric contributions to semantic\r\nprocessing following a unilateral LH lesion.\r\nMethods: RH disinhibition was examined for nine participants with a single LH lesion and 13 matched controls\r\nusing the dual task paradigm. Hemispheric performance on a divided visual field lexical decision semantic priming\r\ntask was compared over three verbal memory load conditions, of zero-, two- and six-words. Related stimuli\r\nconsisted of categorically related, associatively related, and categorically and associatively related prime-target pairs.\r\nResponse time and accuracy data were recorded and analyzed using linear mixed model analysis, and planned\r\ncontrasts were performed to compare priming effects in both visual fields, for each of the memory load conditions.\r\nResults: Control participants exhibited significant bilateral visual field priming for all related conditions (p < .05),\r\nand a LH advantage over all three memory load conditions. Participants with LH lesions exhibited an improvement\r\nin RH priming performance as memory load increased, with priming for the categorically related condition\r\noccurring only in the 2- and 6-word memory conditions. RH disinhibition was also reflected for the LH damage\r\n(LHD) group by the removal of the LH performance advantage following the introduction of the memory load\r\nconditions.\r\nConclusions: The results from the control group are consistent with suggestions of an age related hemispheric\r\nasymmetry reduction and indicate that in healthy aging compensatory bilateral activation may reduce the impact\r\nof inhibition. In comparison, the results for the LHD group indicate that following a LH lesion RH semantic\r\nprocessing can be manipulated and enhanced by the introduction of a verbal memory task designed to engage\r\nLH resources and allow disinhibition of RH processing....
Background: Hereditary sensory and autonomic neuropathy type 2 (HSAN2) is an autosomal recessive\ndisorder with predominant sensory dysfunction and severe complications such as limb destruction. There are\ndifferent subtypes of HSAN2, including HSAN2A, which is caused by mutations in WNK1/HSN2 gene.\nMethods: An Iranian family with four siblings and autosomal recessive inheritance pattern whom initially\ndiagnosed with HSAN2 underwent whole exome sequencing (WES) followed by segregation analysis.\nResults: According to the filtering criteria of the WES data, a novel candidate variation, c.3718C > A in WNK1/\nHSN2 gene that causes p.Tyr1025* was identified. This variation results in a truncated protein with 1025\namino acids instead of the wild-type product with 2645 amino acids. Sanger sequencing revealed that the\nmutation segregates with disease status in the pedigree.\nConclusions: The identified novel nonsense mutation in WNK1/HSN2 in an Iranian HSAN2 pedigree presents\nallelic heterogeneity of this gene in different populations. The result of current study expands the spectrum\nof mutations of the HSN2 gene as the genetic background of HSAN2A as well as further supports the\nhypothesis that HSN2 is a causative gene for HSAN2A. However, it seems that more research is required to\ndetermine the exact effects of this product in the nervous system....
Background: It is well established that COMT is a strong candidate gene for substance use disorder and\r\nschizophrenia. Recently we identified two SNPs in COMT (rs4680 and rs165774) that are associated with\r\nschizophrenia in an Australian cohort. Individuals with schizophrenia were more than twice as likely to carry the\r\nGG genotype compared to the AA genotype for both the rs165774 and rs4680 SNPs. Association of both rs4680\r\nand rs165774 with substance dependence, a common comorbidity of schizophrenia has not been investigated.\r\nMethods: To determine whether COMT is important in substance dependence, rs165774 and rs4680 were\r\ngenotyped and haplotyped in patients with nicotine, alcohol and opiate dependence.\r\nResults: The rs165774 SNP was associated with alcohol dependence. However, it was not associated with nicotine\r\nor opiate dependence. Individuals with alcohol dependence were more than twice as likely to carry the GG or AG\r\ngenotypes compared to the AA genotype, indicating a dominant mode of inheritance. The rs4680 SNP showed a\r\nweak association with alcohol dependence at the allele level that did not reach significance at the genotype level\r\nbut it was not associated with nicotine or opiate dependence. Analysis of rs165774/rs4680 haplotypes also revealed\r\nassociation with alcohol dependence with the G/G haplotype being almost 1.5 times more common in alcoholdependent\r\ncases.\r\nConclusions: Our study provides further support for the importance of the COMT in alcohol dependence in\r\naddition to schizophrenia. It is possible that the rs165774 SNP, in combination with rs4680, results in a common\r\nmolecular variant of COMT that contributes to schizophrenia and alcohol dependence susceptibility. This is\r\npotentially important for future studies of comorbidity. As our participant numbers are limited our observations\r\nshould be viewed with caution until they are independently replicated....
Objectives: We examined whether plasma concentrations of amyloid beta (Ab) as protein derivatives play a\ncentral role in the etiology of autistic features.\nDesign and Methods: Concentrations of human Ab (1-42), Ab (1-40), and Ab (40/42) in the plasma of 52 autistic\nchildren (aged 3-16 years) and 36 age-matched control subjects were determined by using the ELISA technique\nand were compared.\nResults: Compared to control subjects, autistic children exhibited significantly lower concentrations of both Ab (1-\n40) and Ab (1-42) and lower Ab (40/42) concentration ratio. Receiver operating characteristics curve (ROC) analysis\nshowed that these measurements of Ab peptides showed high specificity and sensitivity in distinguishing autistic\nchildren from control subjects.\nConclusions: Lower concentrations of Ab (1-42) and Ab (1-40) were attributed to loss of Ab equilibrium between\nthe brain and blood, an imbalance that may lead to failure to draw Ab from the brain and/or impairment of band\ng- secretase�s concentration or kinetics as enzymes involving in Ab production....
Background: Heterogeneous disease trajectories of mild cognitive impairment (MCI) and dementia are frequently\nencountered in clinical practice, but there is still insufficient knowledge to understand the reasons and mechanisms\ncausing this heterogeneity. In addition to correlates of the disorder, patient characteristics such as their health\nstatus, social environment, comorbidities and frailty may contribute to variability in trajectories over time. The\ncurrent paper outlines the study design and the study population of and provides an overview of the data\ncollected in the Clinical Course of Cognition and Comorbidity in Mild Cognitive Impairment (4C-MCI cohort, n = 315)\nand Dementia (4C-Dementia cohort, n = 331) Study.\nMethods: The two complementary longitudinal cohorts part of the 4C study began enrolment in March 2010.\nParticipants were prospectively recruited from three collaborating Dutch Alzheimer Centers, with three annual\nfollow-up assessments after baseline. Extensive neuropsychological assessments, and detailed profiling of\ncomorbidities, health and frailty at each follow up were the key features of the 4C study. As such, the 4C study was\ndesigned to study if and how patients� comorbidities and frailty are associated with the course of MCI and\ndementia measured with a comprehensive and multidimensional set of outcomes including cognition, daily\nfunctioning, quality of life, behavioral disturbances, caregiver burden, institutionalization and death and whether the\neffects of medical health and frailty differ between MCI and dementia stages of cognitive disorders. Conclusion: Sampled in a clinical setting, the 4C study complements population-based studies on\nneurodegenerative disorders in terms of the type of assessment (e.g. comorbidity, frailty, and functional status were\nrepeatedly assessed). The 4C study complements available clinical cohorts of MCI and dementia patients, because\nthe exclusion criteria were kept to a minimum, to obtain a sample that is representative for the average patient\nvisiting a memory clinic....
Neurologic stunned myocardium (NSM) is a phenomenon where neurologic events give rise to cardiac abnormalities. Neurologic\nevents like stroke and seizures cause sympathetic storm and autonomic dysregulation that result in myocardial injury.The clinical\npresentation can involve troponin elevation, left ventricular dysfunction, and ECG changes. These findings are similar to Takotsubo\ncardiomyopathy and acute coronary syndrome. It is difficult to distinguish NSM from acute coronary syndrome based on clinical\npresentation alone. Because of this difficulty, a patient withNSMwho is at high risk for coronary heart disease may undergo cardiac\ncatheterization to rule out coronary artery disease.The objective of this review of literature is to enhance physician�s awareness of\nNSM and its features to help tailor management according to the patient�s clinical profile....
Objective: To stabilize the craniometric data for central India population and to find out any sexual dimorphism in posterior nasal openings in the nasopharyngeal region.\r\nMethod: The present study was conducted on three hundred and twenty-two dry skulls of central India region. The dry skulls taken for study are first examined to determine the sex of the skull then various measurements of the posterior nasal opening on both side were taken.\r\nResults: The average width of posterior nasal opening on right side among the male cases was observed 13.81(?1.16) mm and for the female cases it was observed 13.46(?1.32) mm (P?0.05). The average width of posterior nasal opening on left side among the male cases was observed 14.02(?1.08) mm and for female cases it was observed 13.57(?1.13) mm (P?0.001). The average width of posterior nasal opening on both side (right side & left side) of the male cases were found statistically significant higher compared with female cases. \r\nThe average height of posterior nasal opening on right side among the male cases was noted at 27.41(? 2.10) mm and for female it was 25.69((? 2.07) mm (P?0.001). The average height of posterior nasal opening on left side among the male cases was noted at 27.58(? 2.05) mm and for female it was 25.66((? 1.87) mm (P?0.001). The average height of posterior nasal opening on both side (right side & left side) of male cases were statistically significant higher than female cases. \r\nConclusion: In this study, there is positive correlation between the height and width of Posterior Nares and the increase in height is proportional to the increase in width. This study shows that the Posterior Nasal openings in the skulls of central Indian population is slightly larger than that mentioned in Gray�s Anatomy (39th edition) and the measurements of height and width of the posterior nasal opening on both side were found higher in male skulls than female skulls. \r\nKey words: Posterior Nasal opening, Nasopharynx, Skulls....
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