Comparison of clinical profile of leptospirosis patients during post flood and non-post flood periods

Background: Leptospirosis is a zoonotic infection with high mortality rates. The incidence of leptospirosis is more during floods. The aim of the study was to find the difference in clinical profile of leptospirosis during post flood and non-post flood periods.Methods: This was a cross sectional observational study comparing the clinical profile of leptospirosis patients admitted in Government Medical College Ernakulam, Kerala during the post flood period of 2018 with that of non-post flood period. The data with respect to clinical features and investigations were retrieved from the hospital records.Results: Out of the 42 patients studied 15 were from the post flood period and the rest 27 patients were from the non-post flood period. The mean age in the post flood group was 40 years and that in the non-post flood group 43 years. Myalgia, icterus and calf tenderness was significantly higher in the post flood group. The mean platelet count was significantly lower in the non-post flood period (p value=0.011). Mean serum urea and total bilirubin were significantly higher in the post flood group compared to non-post flood group (p value=0.001). Cardiac complications were seen only among the post flood group.Conclusions: The clinical profile and complications were different in leptospirosis patients during post flood and non-post flood periods. These findings help the treating physicians to formulate different approaches in treating patients during the post flood and non-post flood period.

Clinical profile of post flood fever in a tertiary care hospital in Kerala

Background: Floods are an important source of infection epidemic worldwide. Analysis of different infections presenting during floods can lead us to have a unified approach during such periods.Methods: This study describes the clinical features of fever patients presented to a tertiary care hospital in Kerala after the 2018 flood. Clinical findings of the confirmed leptospirosis cases were also compared with non-leptospirosis cases.Results: A total of 48 patients with fever and myalgia were studied and majority of them were males (77%). 40 patients had contact with contaminated water. But only 10 of them had taken prophylactic doxycycline. Complications were seen less among those who took prophylactic doxycycline. The mean time from the first symptom to first medical care was 4.4 days. Leptospirosis was seen among 15 patients and 2 patients had dengue fever. Hepatic involvement and renal involvement were seen significantly higher among leptospirosis patients.Conclusions: This study emphasized the importance of prophylactic doxycycline and early initiation of antibiotics during flood outbreaks. Awareness among treating doctors and patients is required for the control of outbreaks and prevention of mortality during floods.

The Feeding Tube- a Simple Yet Handy Aid to Intubate an Unanticipated Difficult Pediatric Airway

Pediatric intubation requires certain unique set of additional skills compared to intubating adults. The challenges of successfully intubation of a child increases as the age and size of the child decrease and are compounded when airway difficulties arise for various reasons. Often in the rural setting, such procedures may have to be carried out by health care personnel who get trained on-the-job, and in the absence of adequate technological back-up. This leads to an increased incidence of failed intubations which can have devastating complications, especially in the pediatric age group. We describe a simple technique which helped us while intubate a 40-day old infant, without any major catastrophes. Keywords: airway management; infant; newborn; intubation; endotracheal

Repetitive behavior profiles: Consistency across autism spectrum disorder cohorts and divergence from Prader–Willi syndrome

Restricted and repetitive behavior (RRB) is a group of heterogeneous maladaptive behaviors. RRB is one of the key diagnostic features of autism spectrum disorders (ASDs) and also commonly observed in Prader–Willi syndrome (PWS). In this study, we assessed RRB using the Repetitive Behavior Scale-Revised (RBS-R) in two ASD samples (University of Illinois at Chicago [UIC] and University of Florida [UF]) and one PWS sample. We compared the RBS-R item endorsements across three ASD cohorts (UIC, UF and an ASD sample from Lam, The Repetitive Behavior Scale-Revised: independent validation and the effect of subject variables, PhD thesis, 2004), and a PWS sample. We also compared the mean RBS-R subscale/sum scores across the UIC, UF and PWS samples; across the combined ASD (UIC + UF), PWS-deletion and PWS-disomy groups; and across the combined ASD sample, PWS subgroup with a Social Communication Questionnaire (SCQ) score ≥15, and PWS subgroup with a SCQ score <15. Despite the highly heterogeneous nature, the three ASD samples (UIC, UF and Lam’s) showed a similar pattern of the RBS-R endorsements, and the mean RBS-R scores were not different between the UIC and UF samples. However, higher RRB was noted in the ASD sample compared with the PWS sample, as well as in the PWS subgroup with a SCQ score ≥15 compared with the PWS subgroup with a SCQ score <15. Study limitations include a small sample size, a wide age range of our participants, and not controlling for potential covariates. A future replication study using a larger sample and further investigation into the genetic bases of overlapping ASD and RRB phenomenology are needed, given the higher RRB in the PWS subgroup with a SCQ score ≥15

Head and Neck Lymphomas: Tip of the Iceberg?

ABSTRACT Background: Lymphomas comprise around 5% of all head and neck neoplasms and is the second most common extra nodal non hodgkin&apos;s lymphoma (NHL). However there is sporadic data on this entity from the subcontinent and hence we undertook this study. Methodology: This retrospective observational study was conducted at a tertiary care oncology center in India on diagnosed cases of NHL between January 2007 and December 2013. All patients were diagnosed based on histopathology and immunohistochemistry. Staging work up was done in all patients. Patients were considered as primary Head and Neck lymphomas if there was head and neck as the predominant site with or without regional lymph node involvement. Results: A total of 39 patients were studied. The age at presentation ranged from 29 to 78 years. The most common site of presentation was oral cavity (26%; n=10), followed by parotid and thyroid (18% each; n=7), eye (12%, n=5), maxilla (8%; n=3), paranasal sinuses (8%; n-=3) cheek (8%, n=3), and nasal cavity (2%, n=1). 41% (n=16) cases were in stage I, 43% (n=17) in stage II, 3% (n=1) in stage III, and 13% (n=5) were in stage IV. Most common histology was DLBCL (71%; n=28), followed by plasmablastic (10%; n=4), marginal zone (8%, n=3), mantle cell (3%; n=1), follicular lymphomas (5%; n=2), and NK/T cell lymphoma (3%; n=1). Most of the patients were of low risk (67%; n=26), followed by intermediate (23%; n=9), and high risk (10%; n=4). Patients were treated with anthracycline based chemotherapy +/-radiotherapy. In this study, stage I and stage II patients had a better prognosis and overall survival, median OS 28 months and 11 months, respectively. In stage III and IV, it was 7 and 3 months, respectively. According to site, the best median overall survival was seen with parotid (27 m), paranasal sinus (26m), and oral cavity (23 m), followed by thyroid (18 m) nasal cavity (17 m), maxilla (11 m), eye (8 m), and cheek (7 m)

Individual common variants exert weak effects on the risk for autism spectrum disorders.

While it is apparent that rare variation can play an important role in the genetic architecture of autism spectrum disorders (ASDs), the contribution of common variation to the risk of developing ASD is less clear. To produce a more comprehensive picture, we report Stage 2 of the Autism Genome Project genome-wide association study, adding 1301 ASD families and bringing the total to 2705 families analysed (Stages 1 and 2). In addition to evaluating the association of individual single nucleotide polymorphisms (SNPs), we also sought evidence that common variants, en masse, might affect the risk. Despite genotyping over a million SNPs covering the genome, no single SNP shows significant association with ASD or selected phenotypes at a genome-wide level. The SNP that achieves the smallest P-value from secondary analyses is rs1718101. It falls in CNTNAP2, a gene previously implicated in susceptibility for ASD. This SNP also shows modest association with age of word/phrase acquisition in ASD subjects, of interest because features of language development are also associated with other variation in CNTNAP2. In contrast, allele scores derived from the transmission of common alleles to Stage 1 cases significantly predict case status in the independent Stage 2 sample. Despite being significant, the variance explained by these allele scores was small (Vm&lt; 1%). Based on results from individual SNPs and their en masse effect on risk, as inferred from the allele score results, it is reasonable to conclude that common variants affect the risk for ASD but their individual effects are modest

The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism.

International audienceAlthough multiple reports show that defective genetic networks underlie the aetiology of autism, few have translated into pharmacotherapeutic opportunities. Since drugs compete with endogenous small molecules for protein binding, many successful drugs target large gene families with multiple drug binding sites. Here we search for defective gene family interaction networks (GFINs) in 6,742 patients with the ASDs relative to 12,544 neurologically normal controls, to find potentially druggable genetic targets. We find significant enrichment of structural defects (P≤2.40E-09, 1.8-fold enrichment) in the metabotropic glutamate receptor (GRM) GFIN, previously observed to impact attention deficit hyperactivity disorder (ADHD) and schizophrenia. Also, the MXD-MYC-MAX network of genes, previously implicated in cancer, is significantly enriched (P≤3.83E-23, 2.5-fold enrichment), as is the calmodulin 1 (CALM1) gene interaction network (P≤4.16E-04, 14.4-fold enrichment), which regulates voltage-independent calcium-activated action potentials at the neuronal synapse. We find that multiple defective gene family interactions underlie autism, presenting new translational opportunities to explore for therapeutic interventions

Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders.

International audienceRare copy-number variation (CNV) is an important source of risk for autism spectrum disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of genic deletions and duplications in affected versus control groups (1.41-fold, p = 1.0 × 10(-5)) and an increase in affected subjects carrying exonic pathogenic CNVs overlapping known loci associated with dominant or X-linked ASD and intellectual disability (odds ratio = 12.62, p = 2.7 × 10(-15), ∼3% of ASD subjects). Pathogenic CNVs, often showing variable expressivity, included rare de novo and inherited events at 36 loci, implicating ASD-associated genes (CHD2, HDAC4, and GDI1) previously linked to other neurodevelopmental disorders, as well as other genes such as SETD5, MIR137, and HDAC9. Consistent with hypothesized gender-specific modulators, females with ASD were more likely to have highly penetrant CNVs (p = 0.017) and were also overrepresented among subjects with fragile X syndrome protein targets (p = 0.02). Genes affected by de novo CNVs and/or loss-of-function single-nucleotide variants converged on networks related to neuronal signaling and development, synapse function, and chromatin regulation

Artery of Percheron occlusion: role of diffusion-weighted imaging in the early diagnosis

Bilateral thalamic infarcts have a low frequency among different subtypes of strokes. Since it does not involve a particular vascular territory, it therefore usually involves the occlusion of the artery of Percheron (AOP). Here we report a 79-year-old right-handed Parkinsonian female patient, who was found unresponsive in bed. On examination, the patient was drowsy with a Glasgow Coma Score (GCS) of 10/15 (E2M5V3). She had absent doll’s eye response with anisocoric pupils and intermittent vertical gaze palsy. Although the patient had no apparent motor deficits, she was in a state of persistent somnolence with memory impairment and lack of initiative. Diffusion-weighted magnetic resonance imaging (MRI) of the brain showed focal areas of restricted diffusion in the medial part of the thalami bilaterally and the rostral part of mid-brain (right &gt; left) (bilateral paramedian thalamic with mid-brain pattern), suggestive of a hyper-acute infarct in the territory of AOP. The patient was anticoagulated with 40 mg subcutaneous low molecular weight heparin and was started on double anti-platelets along with supportive measures. The level of consciousness is improved at a slow rate to a GCS of 12/15 (E4M5V3). The patient had marked abulia with periods of drowsiness interspersed with periods of restlessness and uttering of abnormal sounds, but she was able to execute simple commands. In conclusion, occlusion of the AOP is a rare cause of coma in elderly patients. Diffusion-weighted MRI is the imaging modality of choice for early diagnosis. Early diagnosis of AOP occlusion may lead to favorable outcomes

Auditory Domain Sensitivity and Neuroplasticity-Based Targeted Cognitive Training in Autism Spectrum Disorder

Sensory processing, along with the integration of external inputs into stable representations of the environment, is integral to social cognitive functioning; challenges in these processes have been reported in Autism Spectrum Disorder (ASD) since the earliest descriptions of autism. Recently, neuroplasticity-based targeted cognitive training (TCT) has shown promise as an approach to improve functional impairments in clinical patients. However, few computerized and adaptive brain-based programs have been trialed in ASD. For individuals with sensory processing sensitivities (SPS), the inclusion of some auditory components in TCT protocols may be aversive. Thus, with the goal of developing a web-based, remotely accessible intervention that incorporates SPS concerns in the auditory domain, we assessed auditory SPS in autistic adolescents and young adults (N = 25) who started a novel, computerized auditory-based TCT program designed to improve working memory and information processing speed and accuracy. We found within-subject gains across the training program and between pre/post-intervention assessments. We also identified auditory, clinical, and cognitive characteristics that are associated with TCT outcomes and program engagement. These initial findings may be used to inform therapeutic decisions about which individuals would more likely engage in and benefit from an auditory-based, computerized TCT program