Cluster of differentiation 5 [CD5] levels in the plasma of children with autism spectrum disorder [ASD]

Objective: To investigate the cluster of differentiation 5 [CD5] plasma levels and their association with childhood autism rating scale [CARS] in subjects with autism spectrum disorder [ASD] compared to age and gender matched healthy controls, and to explore the link between CD5, severity, and autoimmunity in autism

Study Design: Case-control study

Place and Duration of Study: Autism Research and Treatment Center, Al-Amodi Autism Research Chair, Department of Physiology, Faculty of Medicine, King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia, from October 2014 to May 2015

Methodology: CD5 levels were determined in the plasma of thirty-one [31] patients using enzyme-linked immunosorbent assay [ELISA], categorized as mild-moderate and severe as indicated by their Childhood Autism Rating Scale [CARS] score and compared to thirty-three [33] age and gender-matched control samples

Results: The preliminary data indicated that children with severe autism [n=12], exhibited significantly [p=0.02] higher plasma level of CD5 [0.55 [0.14-12] pg/ml [median [interquartile range=IQR]]] than those of normal controls [n=33, 0.29 [0.08-0.79] pg/ml [median [IQR]]] and children with mild to moderate autism [n=19, 0.26 [0.13-1.42] pg/ml, [median [IQR]], p=0.08]. However, there was no significant difference between the CD5 levels of children with mild to moderate autism and normal controls [p = 0.62]. Diagnoses of autistic children based on the CARS score >30. Disease severity and the CARS score, which represent stereotyped patterns of behavior in children with autism, were positively correlated [r = 0.43, p = 0.02]

Conclusion: The high CD5 plasma levels in patients with severe ASD, probably indicated that CD5 might be implicated in the physiology of autism. However, this finding should be treated with caution until further investigations are performed with larger populations to determine whether the increase in plasma CD5 levels is a mere consequence of autism or it plays a pathogenic role in the disease

Right-sided diaphragmatic hernia in an elderly male

Diaphragmatic hernia is rarely reported in elderly. Here we present a 90-year-old male patient suffering from respiratory symptoms with no prior history of trauma. Investigations showed diaphragmatic hernia on the right-side. Defect was anteromedial in position. The contents of the hernia were small and large gut. Considering multiple co-morbid it was decided not to operate on this patient

Secretagogin [SCGN] plasma levels and their association with cognitive and social behavior in children with autism spectrum disorder [ASD]

Objective: To investigate the secretagogin [SCGN] plasma levels in children with autism spectrum disorder [ASD] compared to age and gender-matched healthy control, and its association with cognitive and social behaviors by using childhood autism rating scale [CARS] and social responsiveness scale [SRS]

Study Design: Case-control study

Place and Duration of Study: Autism Research and Treatment Center, Al-Amodi Autism Research Chair, Department of Physiology, Faculty of Medicine, King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia, from October 2015 to May 2016

Methodology: SCGN levels were determined in the plasma of thirty-seven [37] autistic children using enzyme-linked immunosorbent assay [ELISA], categorized as mild-moderate and severe as indicated by their CARS scores and compared with thirty [30] age and gender-matched control samples. Correlation between SCGN levels and different cognitive and social behavior scales [CARS and SRS] was determined by Spearman's correlation coefficient [r]

Results: The results indicated that autistic children [n=37] had significantly [p= 0.005] lower plasma level of SCGN [45.7 [26.2] ng/ml [median [IQR]]] than those of healthy controls [n=30, 70.8 [48.6] ng/ml [median [IQR]]]. Children with severe [n=28, 76%] as well as mild to moderate autism [n=09, 24%] also exhibited significantly lower SCGN levels [47.5 [27] ng/ml [median [IQR]], p =0.014] and [45.7 [16.6] ng/ml [median [IQR]], p = 0.02]], respectively than healthy controls [n=30, 70.8 [48.6] ng/ml [median [IQR]]]. However, there was no significant difference between the SCGN levels of children with mild to moderate and severe autism [p = 0.66]. Spearman's correlation coefficient [r] was used to determine the relationships between SCGN levels and different variables [CARS, SRS]. However, the results showed no significant correlation between SCGN and these scales. [CARS, r=-0.03, p=0.86; SRS, r=0.21, p=0.20]

Conclusion: The low SCGN plasma levels in children with ASD probably indicate that SCGN might be implicated in the pathogenesis of autism. However, these data should be treated with caution until further investigations are performed using larger sample sizes to determine whether the decrease in plasma SCGN levels is a mere consequence of autism or it plays a pathogenic role in the disease

Diagnostic accuracy of gray-scale and colour doppler ultrasonography in diagnosing malignant thyroid nodules

Objective: To determine diagnostic accuracy of gray-scale and colour doppler ultrasonography in diagnosing malignant thyroid nodules

Study Design: Validation study

Place and Duration of Study: Radiology department Combined Military Hospital [CMH] and Military Hospital [MH] Rawalpindi from July 2007 to July 2008

Subjects and Methods: Fifty cases of solitary/multinodular goitre with clinical suspicion of malignancy were included in the study by non-probability purposive sampling. Gray-scale and colour doppler ultrasonography of neck/thyroid gland was done and results were compared with histo-pathological findings from Armed Forces Institute of Pathology [AFIP] and Army Medical College keeping histopathology as gold standard

Results: In 50 patients, 10 cases found to have ultrasound findings suspicious of malignancy. Out of these 10 cases, 6 cases confirmed as malignant on histopathology. In 40 patients with benign ultrasound findings, one had malignancy on histo-pathological examination. Out of these 7 patients with confirmed malignancy, four had papillary carcinoma; two had follicular carcinomas and one anaplastic carcinoma. Diagnostic parameters calculated and found to be: sensitivity 85.7%; specificity 90.6%; PPV 60%; NPP 97.5% and accuracy of 90%

Conclusion: Gray-scale and colour doppler ultrasonography is a good technique in diagnosing malignant thyroid nodules. Entirely solid nodule with no cystic element having spiculated margins, micro-calcifications and central flow are helpful sonographic findings pointing towards malignancy. Associated cervical lymphadenopathy with calcification or degeneration is a significant finding favouring malignancy

Intragenic deletion mutation in the gene desmoglein 4 underlies autosomal recessive hypotrichosis in six consanguineous families

Objectives: Localized autosomal recessive hypotrichosis is a non-syndromic human hair loss disorder, affecting scalp, eyebrows and eyelashes, and other parts of the body. Six consanguineous families with this form of hair loss disorder were investigated at both the clinical and molecular levels

Methods: Linkage in six families with twenty-one affected members was tested by genotyping microsatellite markers linked to autosomal recessive hypotrichosis loci including localized autosomal recessive hypotrichosis [LAH] 1, 2 and 3. Sequence analysis of the entire coding and splice sites of the gene DSG4 was performed to search for the disease-causing mutation

Results: Genotyping established linkage in families to the DSG4 gene at LAH1 locus on chromosome 18q21.1. Sequence analysis detected an intragenic deletion mutation [Ex5_8 del] in affected members of all six families

Conclusion: Identification of recurrent mutation in six additional Pakistani families strengthens the body of evidence that this is an ancestral mutation that is widespread among different Pakistani ethnic groups

Behavioral benefits of camel milk in subjects with autism spectrum disorder

Objective: To investigate the possible therapeutic effects of camel milk on behavioral characteristics as an interventional strategy in autistic children

Study Design: Double-blind, Randomized Clinical Trial [RCT]

Place and Duration of Study: Autism Research and Treatment Center, Al-Amodi Autism Research Chair, Department of Physiology, Faculty of Medicine, King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia, from October 2012 to May 2013

Methodology: Changes in behavioral characteristics in 65 [boys=60, girls=5] children with autism [aged from 2 to 12 years] were assessed. The behavioral symptoms were evaluated by Childhood Autism Rating Scale [CARS], Social Responsiveness Scale [SRS], and Autism Treatment Evaluation Checklist [ATEC] before and after the 2 weeks of camel milk therapy

Results: Significant differences were detected on Autism Spectrum Disorder [ASD] by CARS, SRS and ATEC scales, following 2 weeks of camel milk consumption, but not in the placebo group

Conclusion: The present study demonstrates that camel milk could be very promising therapeutic intervention in ASD. Further wide scale studies are strongly recommended

Correlation between Hedgehog [Hh] protein family and Brain-Derived Neurotrophic Factor [BDNF] in Autism Spectrum Disorder [ASD]

Objective: To determine the correlation of Sonic Hedgehog [SHH], Indian Hedgehog [IHH], and Brain-Derived Neurotrophic Factor [BDNF] in children with Autism Spectrum Disorder [ASD]

Study Design: An observational, comparative study

Place and Duration of Study: Autism Research and Treatment Center, Al-Amodi Autism Research Chair, Department of Physiology, Faculty of Medicine, King Khalid University Hospital, King Saud University, Riyadh, Saudi Arabia, from October 2011 to May 2012

Methodology: Serum levels of SHH, IHH and BDNF were determined in recently diagnosed autistic patients and agematched healthy children [n=25], using the Enzyme-Linked Immunosorbent Assay [ELISA]. Childhood Autism Rating Scale [CARS] was used for the assessment of autistic severity. Spearman correlation co-efficient 'r' was determined

Results: The serum levels of IHH and SHH were significantly higher in autistic subjects than those of control subjects. There was significant correlation between age and IHH [r = 0.176, p = 0.03], BDNF and severe IHH [r = 0.1763, p = 0.003], and severe BDNF and severe SHH [r = 0.143, p < 0.001]. However, there were no significant relationships among the serum levels of SHH, IHH and BDNF and the CARS score, age or gender

Conclusion: The findings support a correlation between SHH, IHH and BDNF in autistic children, suggesting their pathological role in autism

profile of atopic dermatitis in out patient department of dermatology Isra university hospital

To study the profile of atopic dermatitis in patients presenting at outpatient department of Dermatology of Isra University Hospital, Hyderabad. Observational study. This study was carried out at the Department of Dermatology, Isra UniversityHospital, Hyderabad from April 2012 to April 2014. A sample of 100 patients of atopic dermatitis was selected through non probability purposive sampling as per inclusion and exclusion criteria. Atopic dermatitis was diagnosed on the basis of patient history and clinical presentation and clinical findings. The findings were collected on a predesigned structured proforma. Written informed consent was taken from the willing participants. Ethical approval was taken from the institute. Data was analyzed on SPSS 21.0 [IBM, incorporation, USA]. Categorical variables were analyzed using chi square. P-value of statistical significance was taken at

Prevalence of skin diseases in patients presenting at the out patient department of Isra university hospital hyderabad: a clinical survey

The present study was conducted to investigate the prevalence of skin diseases in patients reporting at the Out Patient Department of Isra University Hospital Hyderabad. Cross sectional study. This study was carried out at Out Patient Department of Isra University Hospital Hyderabad from April 2006 - April 2014. A total of 2067 patients [1096 males and 971 females] were examined initially. Patients were selected through non probability purposive sampling as per inclusion and exclusion criteria. Because of limited time and workforce, only six dermatoses of main interest were recorded. Patients were examined by consultant dermatologist. Written informed consent was taken from the willing participants. Ethical approval was taken from the institute. Data was analyzed on SPSS 21.0 [IBM, incorporation, USA]. Categorical variables were analyzed using chi square. P-value of statistical significance was taken at

Possible role of brain-derived neurotrophic factor [BDNF] in autism spectrum disorder: current status

Brain-derived neurotrophic factor [BDNF], a member of the neurotrophin family of survival-promoting molecules, plays a vital role in the growth, development, maintenance, and function of several neuronal systems. The purpose of this review is to document the support for the involvement of this molecule in the maintenance of normal cognitive, emotional functioning, and to outline recent developments in the content of Autism spectrum disorder [ASD]. Current and future treatment development can be guided by developing understanding of this molecule's actions in the brain and the ways the expression of BDNF can be planned. Over the years, research findings suggested a critical role played by BDNF in the development of autism including increased serum concentrations of BDNF in children with autism and identification of different forms of BDNF in families of autistic individuals.

Therapeutic use of hyperbaric oxygen therapy for children with autism spectrum disorder

Autism spectrum disorder [ASD] is neurodevelopment disorder, characterized by impairment in social interaction, verbal and non-verbal communication and the presence of restricted and repetitive stereotyped behaviors. The condition manifests within the first 3 years of life and persists till adulthood. At present, the etiology of ASD is largely unknown, but genetic, environmental, immunological, and neurological factors are thought to play a role in the development of ASD. The prevalence of ASD has increased dramatically in the past few decades. According to current estimates from the United States Centers for Disease Control and Prevention [CDC] as many as 1 in 91 children have ASD in USA. Studies from the Middle East on this topic are limited. Autism in Saudi Arabia is slightly higher than reported in the developed countries. Hyperbaric oxygen therapy [HBOT] has been growing in popularity for the treatment of ASD over recent years. However, few studies of its effectiveness have been reported. This article reviews important publications regarding the physiologic and clinical influence of HBO on ASD. Several case series and randomized trials have all proposed that low pressure/ low oxygen concentration hyperbaric treatment can improve the clinical manifestations of autism

Role of proteomics in the discovery of autism biomarkers

The epidemiology of autism is continuously increasing all over the world with social, behavioural and economical burdens. Autism is considered as a multi-factorial disorder, influenced by genetic, neurological, environmental and immunological aspects. Autism is still believed to be incurable disorder with little information about the role of proteins patterns in the diagnosis of the disease. Knowing the applications of proteomic tools, it is possible to identify quantitative and qualitative protein patterns in a wide variety of tissues and body fluids such as blood, urine, saliva and cerebrospinal fluid in order to establish specific diagnostic and prognostic biomarkers. The aim of this review is to provide an overview of the various protocols available for proteomics by using mass spectrometry analysis, discuss reports in which these techniques have been previously applied in biomarker discovery for the diagnosis of autism, and consider the future development of this area of research