scholarly journals GENETIC ANALYSIS OF FAMILIES HAVING AUTOSOMAL RECESSIVE INTELLECTUAL DISABILITY

2019 ◽  
Vol 17 (2) ◽  
Author(s):  
Jamshed Khan ◽  
Muhammad Junaid ◽  
Shahab Uddin ◽  
Khalida Moeed ◽  
Usman Ullah ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Genetic Analysis ◽  
Single Gene ◽  
Cross Sectional Study ◽  
Molecular Diagnostic ◽  
Developmental Defect ◽  
Chromosomal Disorders ◽  
Cross Sectional ◽  
Pathogenic Variants ◽  
Development Delay

Background: Intellectual disability (ID) is a neuro-developmental defect that is manifested by development delay and learning disability. Such defects may be caused due to chromosomal disorders (trisomy 18 or Down syndrome) or single gene mutation. Its worldwide prevalence is estimated to be 1-3%. The genetic etiology of non-syndromic ID is poorly understood. To date, more than 100 loci have been reported to be associated with non-syndromic ID. The objective of this study was to identify the causative genes for three Materials & Methods: This cross-sectional study was conducted in the Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan from March 2014 to August 2015. The inclusion criteria set for the families was consanguineous relation and more than two patients per family (including cousins). All the patients were tested individually in friendly atmosphere using IQ test to scale the ID on the basis of performance. Thereafter, blood samples were taken by aseptic method and DNA was extracted for the purpose of doing genetic analysis. In genetic analysis, exome sequencing was performed to find the pathogenic variants. Subsequently. Sanger sequencing was also done to see the segregation of pathogenic variants. Results: Genetic analysis found mutation in AP4B1 in Family 1, in WDR62 in Family 2, while Family 3 was unremarkable. Conclusion: The study involved genetic analysis of three consanguineous families and found mutation in AP4B1 in Family 1, in WDR62 in Family 2, while Family 3 was unremarkable. The present research will help in devising molecular diagnostic technics for pre-marital and pre-conception testing.

scholarly journals GENETIC ANALYSIS OF FAMILIES HAVING AUTOSOMAL RECESSIVE INTELLECTUAL DISABILITY

2019 ◽  
Vol 17 (2) ◽  
pp. 42-46 ◽  
Author(s):  
Jamshed Khan ◽  
Muhammad Junaid ◽  
Shahab Uddin ◽  
Khalida Moeed ◽  
Usman Ullah ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Genetic Analysis ◽  
Single Gene ◽  
Cross Sectional Study ◽  
Molecular Diagnostic ◽  
Developmental Defect ◽  
Chromosomal Disorders ◽  
Cross Sectional ◽  
Pathogenic Variants ◽  
Development Delay

Background: Intellectual disability (ID) is a neuro-developmental defect that is manifested by development delay and learning disability. Such defects may be caused due to chromosomal disorders (trisomy 18 or Down syndrome) or single gene mutation. Its worldwide prevalence is estimated to be 1-3%. The genetic etiology of non-syndromic ID is poorly understood. To date, more than 100 loci have been reported to be associated with non-syndromic ID. The objective of this study was to identify the causative genes for three Materials & Methods: This cross-sectional study was conducted in the Institute of Basic Medical Sciences, Khyber Medical University, Peshawar, Pakistan from March 2014 to August 2015. The inclusion criteria set for the families was consanguineous relation and more than two patients per family (including cousins). All the patients were tested individually in friendly atmosphere using IQ test to scale the ID on the basis of performance. Thereafter, blood samples were taken by aseptic method and DNA was extracted for the purpose of doing genetic analysis. In genetic analysis, exome sequencing was performed to find the pathogenic variants. Subsequently. Sanger sequencing was also done to see the segregation of pathogenic variants. Results: Genetic analysis found mutation in AP4B1 in Family 1, in WDR62 in Family 2, while Family 3 was unremarkable. Conclusion: The study involved genetic analysis of three consanguineous families and found mutation in AP4B1 in Family 1, in WDR62 in Family 2, while Family 3 was unremarkable. The present research will help in devising molecular diagnostic technics for pre-marital and pre-conception testing.

A Survey on Leading Indications of Fetomaternal Therapeutic Abortions in Yazd: A Cross Sectional Study

2020 ◽  
Author(s):  
Samira Asadollahi ◽  
Mahta Mazaheri ◽  
Razieh Sadat Tabatabaee ◽  
Sahel Khajehnoori ◽  
Mahmood Noorishadkam ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Kidney Diseases ◽  
Pregnancy Termination ◽  
Single Gene ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Therapeutic Abortion ◽  
Chromosomal Disorders ◽  
Cross Sectional

Background: Congenital abnormalities are diseases that occur during fertilization of the egg or development of the fetus and lead to disability, illness or mortality. This study aimed to investigate the prevalence and the factors associated with fetomaternal abnormalities in therapeutic abortions.                                                                                       Methods: This cross-sectional study was performed on 391 mothers referred to Yazd legal medicine organization for pregnancy termination from March 2017 to March 2020. The data about their fetuses were extracted and recorded. Results:The most common fetal abnormalities observed in this study were central nervous system abnormalities (21.1%), subsequently chromosomal disorders (16.8%), hydropsfetalis, cystic hygroma (15.9%), syndromic disorders (10.1%), single-gene disorders (8.1%), dysmorphology (8.1%), musculoskeletal disorders (7.8%), and cardiovascular disorders (7.2%). Conclusion: The main maternal causes for therapeutic abortion were cardiovascular disease, kidney diseases and cancers, while the most common fetal disorders leading to therapeutic abortion were central nervous system disorders such as anencephaly.

scholarly journals SARS-CoV-2 IgG Antibodies Seroprevalence and Sera Neutralizing Activity in MEXICO: A National Cross-Sectional Study during 2020

2021 ◽  
Vol 9 (4) ◽  
pp. 850
Author(s):  
José Esteban Muñoz-Medina ◽  
Concepción Grajales-Muñiz ◽  
Angel Gustavo Salas-Lais ◽  
Larissa Fernandes-Matano ◽  
Constantino López-Macías ◽  
...  
Keyword(s):  
Immunosorbent Assay ◽  
Neutralizing Antibodies ◽  
Herd Immunity ◽  
Cross Sectional Study ◽  
Molecular Techniques ◽  
Diagnostic Methods ◽  
Molecular Diagnostic ◽  
Enzyme Linked Immunosorbent Assay ◽  
Cross Sectional ◽  
Neutralizing Activity

Until recently, the incidence of COVID-19 was primarily estimated using molecular diagnostic methods. However, the number of cases is vastly underreported using these methods. Seroprevalence studies estimate cumulative infection incidences and allow monitoring of transmission dynamics, and the presence of neutralizing antibodies in the population. In February 2020, the Mexican Social Security Institute began conducting anonymous unrelated sampling of residual sera from specimens across the country, excluding patients with fever within the previous two weeks and/or patients with an acute respiratory infection. Sampling was carried out weekly and began 17 days before Mexico’s first officially confirmed case. The 24,273 sera obtained were analyzed by chemiluminescent-linked immunosorbent assay (CLIA) IgG S1/S2 and, later, positive cases using this technique were also analyzed to determine the rate of neutralization using the enzyme-linked immunosorbent assay (ELISA). We identified 40 CLIA IgG positive cases before the first official report of SARS-CoV-2 infection in Mexico. The national seroprevalence was 3.5% in February and 33.5% in December. Neutralizing activity among IgG positives patients during overall study period was 86.1%. The extent of the SARS-CoV-2 infection in Mexico is 21 times higher than that reported by molecular techniques. Although the general population is still far from achieving herd immunity, epidemiological indicators should be re-estimated based on serological studies of this type.

scholarly journals Cardiovascular risk quantification using QRISK-3 score in people with intellectual disability

BJPsych Open ◽  
2021 ◽  
Vol 7 (S1) ◽  
pp. S52-S53
Author(s):  
Jamie Sin Ying Ho ◽  
Vikram Rohra ◽  
Laura Korb ◽  
Bhathika Perera
Keyword(s):  
Intellectual Disability ◽  
Demographic Data ◽  
Cross Sectional Study ◽  
Outpatient Setting ◽  
National Guidelines ◽  
Cvd Risk ◽  
Management Options ◽  
Cross Sectional ◽  
Accessible Information ◽  
The Mean

AimsThe prevalence of cardiovascular diseases (CVD) in people with intellectual disability (ID) is around 14%, higher than the general population. However, CVD risk assessments are not consistently performed. Given the high risk of premature deaths in people with ID, it is important to identify preventable risk factors and follow evidence-based interventions. QRISK-3 is a validated risk-stratification tool, which calculates the 10-year risk of developing a heart attack or stroke (https://qrisk.org/three/index.php). There are no published studies on the use of QRISK-3 in people with ID. This project aimed to understand the use of QRISK-3 in an ID clinic and to quantify individual CVD risks to recommend appropriate management options.MethodA cross sectional study was performed on 143 patients open to an ID psychiatry clinic. Patients and carers were sent an accessible information leaflet on this study. Basic demographic data and information on psychiatric diagnoses were collected. Patients were grouped according to the presence of severe mental illness (SMI) defined as schizophrenia, bipolar disorder and other psychotic illnesses. QRISK-3 ≥ 10% was defined as elevated risk in accordance with NICE guidelines. Patients who had a high QRISK-3 score were advised to contact their GP.ResultOf 143 patients, 73 (51.0%) had a mild ID and the remaining had a moderate to severe ID. The mean age was 43.3 years, 53.1% were male. Overall, 28 (19.6%) participants had an elevated CVD risk, of whom 16 (57.1%) were not on statins, which is the recommended treatment. The mean QRISK-3 score was 6.31 (standard deviation [SD] 8.95), and the relative risk is 3.50 (SD 7.13). The proportion of QRISK-3 ≥ 10% and mean score were not significantly different in those with SMI, but those with SMI were more likely to be prescribed statins than those without (14 [31.1%] vs 10 [10.2%], p = 0.002). Statins were given to 24 (16.8%) participants, of whom 12 (50%) had elevated CVD risk. 89% had a blood pressure recording within the past 5 years, 87% had height and 88% had weight recorded. 73% had lipid serology results recorded.ConclusionElevated CVD risk was common in this ID study population, and more than half with elevated QRISK-3 were not on the medical treatment recommended by national guidelines. QRISK-3 could feasibly be implemented in the outpatient setting. Increased routine CVD risk assessment and management should be considered as another measure to reduce morbidity and mortality.

scholarly journals Pediatric neurodevelopment by prenatal Zika virus exposure: A cross-sectional study of the Microcephaly Epidemic Research Group Cohort

2020 ◽  
Author(s):  
paula sobral Silva ◽  
Sophie Helena Eickmann ◽  
Ricardo Arraes de Alencar Ximenes ◽  
Ulisses Ramos Montarroyos ◽  
Marília de Carvalho Lima ◽  
...  
Keyword(s):  
At Risk ◽  
Zika Virus ◽  
Cross Sectional Study ◽  
Sectional Study ◽  
Early Assessment ◽  
Cross Sectional ◽  
Group 4 ◽  
Neurological Abnormalities ◽  
Development Delay ◽  
And Behavior

Abstract Background: The implications of congenital Zika Virus (ZIKV) infections for pediatric neurodevelopment and behavior remain inadequately studied. The aim of this study is to investigate patterns of neurodevelopment and behavior in children with different levels of ZIKV-related microcephaly or with prenatal ZIKV exposure in the absence of microcephaly. Methods: We conducted a cross-sectional study, nested in a cohort, of 274 children (aged 10-45 months) who were born during the peak and decline of the microcephaly epidemic in Northeast Brazil. Participants were evaluated between February 2017 and August 2019 at two tertiary care hospitals in Recife, Brazil. We analyzed the children in four groups assigned based on clinical and laboratory criteria: Group 1 had severe microcephaly; Group 2 had moderate microcephaly; Group 3 had prenatal ZIKVxposure confirmed by maternal RT-PCR testing and no microcephaly; and Group 4 was a neurotypical control group. Groups were evaluated clinically for neurological abnormalities and compared using the Survey of Wellbeing of Young Children (SWYC), a neurodevelopment and behavior screening instrument, and a SWYC adapted form to compare severe cases. Results: Based on the SWYC screening, we observed differences between the groups for developmental milestones but not behavior. Among children with severe microcephaly of whom 98.2% presented with neurological abnormalities, 99.1% were at risk of development delay, and presented similar performance whether evaluated under or over 24 months of age. Among children with moderate microcephaly of whom 60% presented with neurological abnormalities, 65% were at risk of development delay. For children without microcephaly, the percentages found to be at risk of developmental delays were markedly lower and did not differ by prenatal ZIKV exposure status: Groups 3, 13.8%; Group 4, 21.7%. Conclusions: Among groups of children with prenatal ZIKV exposure, we found a gradient of risk of development delay. Children with severe microcephaly were at highest risk, while normocephalic ZIKV-exposed children had similar risks to unexposed control children. We propose that ZIKV-exposed children should undergo first-line screening for neurodevelopment and behavior using the SWYC. Early assessment and follow-up will enable at-risk children to be referred to a more comprehensive developmental evaluation and to multidisciplinary care management.

scholarly journals Diagnosis of tuberculosis from smear-negative presumptive TB cases using Xpert MTB/Rif assay: a cross-sectional study from Nepal

2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Priyatam Khadka ◽  
Januka Thapaliya ◽  
Ramesh Bahadur Basnet ◽  
Gokarna Raj Ghimire ◽  
Jyoti Amatya ◽  
...  
Keyword(s):  
Previous History ◽  
Clinical Information ◽  
Cross Sectional Study ◽  
University Teaching ◽  
Molecular Diagnostic ◽  
Smear Microscopy ◽  
Sectional Study ◽  
Cross Sectional ◽  
Smear Negative ◽  
Negative Sputum

Abstract Background In most developing countries, smear-negative pulmonary TB (SNPT) often gets missed from the diagnosis of consideration, though it accounts 30–65% of total PTB cases, due to deficient or inaccessible molecular diagnostic modalities. Methods The cross-sectional study enrolled 360 patients with clinical-radiological suspicion of SNPT in Tribhuvan University Teaching Hospital (TUTH). The patient selection was done as per the algorithm of Nepal’s National Tuberculosis Program (NTP) for Xpert MTB/RIF testing. Participants’ demographic and clinical information were collected using a pre-tested questionnaire. The specimens were collected, processed directly for Xpert MTB/RIF test according to the manufacturer’s protocol. The same samples were stained using the Ziehl-Neelsen technique then observed microscopically. Both findings were interpreted; rifampicin-resistant, if obtained, on Xpert testing was confirmed with a Line Probe Assay. Result Of 360 smear-negative sputum samples analyzed, 85(23.61%) found positive while 3(0.8%) of them were rifampicin resistance. The infection was higher in males, i.e. 60(25.3%) compared to female 25(20.3%). The age group, > 45(nearly 33%) with median age 42 ± 21.5, were prone to the infection. During the study period, 4.6% (515/11048) sputum samples were reported as smear-positive in TUTH. Consequently, with Xpert MTB/RIF assay, the additional case 16.5% (n = 85/515) from smear-negative presumptive TB cases were detected. Among the most occurring clinical presentations, cough and chest pain were positively associated with SNPT. While upper lobe infiltrates (36.4%) and pleural effusion (40.4%) were the most peculiar radiological impression noted in PTB patient. 94 multi-drug resistant(MDR) suspected cases were enrolled; of total suspects, 29(30.8%) samples were rifampicin sensitive, 1(1.06%) indeterminate, 3(3.19%) rifampicin-resistant while remaining of them were negative. 2(2.2%) MDR cases were recovered from the patient with a previous history of ATT, of total 89 previously treated cases enrolled However, a single rifampicin-resistant from the new suspects. Conclusion With an application of the assay, the additional cases, missed with smear microscopy, could be sought and exact incidence of the diseases could be revealed.

scholarly journals Not recognized enough: The effects and associations of trauma and intellectual disability in severely mentally ill outpatients

2019 ◽  
Vol 58 ◽  
pp. 63-69 ◽  
Author(s):  
Jeanet Grietje Nieuwenhuis ◽  
Hedwig Johanna Henrica Smits ◽  
Eric Onno Noorthoorn ◽  
Cornelis Lambert Mulder ◽  
Engelbertus Johannes Maria Penterman ◽  
...  
Keyword(s):  
Sexual Abuse ◽  
Intellectual Disability ◽  
Patient Characteristics ◽  
Intellectual Functioning ◽  
Cross Sectional Study ◽  
Traumatic Experiences ◽  
Mild Intellectual Disability ◽  
Chi Square ◽  
Cross Sectional ◽  
Severely Mentally Ill

AbstractBackground:Little is known about the association between trauma and intellectual disability in SMI patients.Aim:To establish the prevalence of trauma and its association with intellectual functioning in SMI outpatients.Methods:A cross-sectional study was conducted in two mental health trusts in the Netherlands. We used the Trauma Screening Questionnaire (TSQ) to screen for trauma and PTSD, and the Screener for Intelligence and Learning disabilities (SCIL) for suspected MID/BIF. Chi-square and t-tests were used to test differences in outcome over patient characteristics. Post-hoc analysis was used to investigate gender differences between patients with and without MID/BIF on trauma and sexual trauma.Results:Any trauma was found in 86% of 570 patients and 42% were suspected for PTSD. The SCIL suggested that 40% had Borderline Intellectual Functioning (BIF), half of whom were suspected of having Mild Intellectual Disability (MID). These patients had more traumatic experiences (1.89 in BIF, 1.75 in MID, against 1.41 in SCIL-negative patients). Female MID/BIF patients (61%) had experienced significantly more sexual abuse than male MID/BIF patients (23%).Conclusions:Significantly more SMI outpatients who screened positive for MID/BIF reported having experienced traumatic events than those who screened negative. Rates of all trauma categories were significantly higher in the screen-positive group, who were also more likely to have PTSD. Sexual abuse occurred more in all females but the SCIL positive women are even more often victim. Clinical practice has to pay more attention to all of these issues, especially when they occur together in a single patient.

scholarly journals Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity

2020 ◽  
Vol 15 (1) ◽  
Author(s):  
Ana Vitoria Barban Margutti ◽  
Wilson Araújo Silva ◽  
Daniel Fantozzi Garcia ◽  
Greice Andreotti de Molfetta ◽  
Adriana Aparecida Marques ◽  
...  
Keyword(s):  
Maple Syrup Urine Disease ◽  
In Silico Analysis ◽  
Cross Sectional Study ◽  
Clinical Severity ◽  
Cross Sectional ◽  
Maple Syrup ◽  
Molecular Features ◽  
Pathogenic Variants ◽  
Study Results ◽  
Urine Disease

Abstract Background Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disease caused by deficient activity of the branched-chain α-keto acid dehydrogenase (BCKD) enzymatic complex. BCKD is a mitochondrial complex encoded by BCKDHA, BCKDHB, DBT, and DLD genes. MSUD is predominantly caused by Variants in BCKDHA, BCKDHB, and DBT genes encoding the E1α, E1β, and E2 subunits of BCKD complex, respectively. The aim of this study was to characterize the genetic basis of MSUD by identifying the point variants in BCKDHA, BCKDHB, and DBT genes in a cohort of Brazilian MSUD patients and to describe their phenotypic heterogeneity. It is a descriptive cross-sectional study with 21 MSUD patients involving molecular genotyping by Sanger sequencing. Results Eight new variants predicted as pathogenic were found between 30 variants (damaging and non-damaging) identified in the 21 patients analyzed: one in the BCKDHA gene (p.Tyr120Ter); five in the BCKDHB gene (p.Gly131Val, p.Glu146Glnfs * 13, p.Phe149Cysfs * 9, p.Cys207Phe, and p.Lys211Asn); and two in the DBT gene (p.Glu148Ter and p.Glu417Val). Seventeen pathogenic variants were previously described and five variants showed no pathogenicity according to in silico analysis. Conclusion Given that most of the patients received late diagnoses, the study results do not allow us to state that the molecular features of MSUD variant phenotypes are predictive of clinical severity.

scholarly journals Pathogenic NOTCH3 Variants Are Frequent Among the Korean General Population

2021 ◽  
Vol 7 (6) ◽  
pp. e639
Author(s):  
Chul-Hoo Kang ◽  
Young Mee Kim ◽  
Yang-Ji Kim ◽  
Su-Jeong Hong ◽  
Do Yoon Kim ◽  
...  
Keyword(s):  
Cross Sectional Study ◽  
Genome Project ◽  
Jeju Island ◽  
Cross Sectional ◽  
Genome Database ◽  
Pathogenic Variants ◽  
Number Of Patients ◽  
High Prevalence ◽  
History Of ◽  
Reference Genome Database

ObjectiveThis study aimed to determine the frequency of pathogenic NOTCH3 variants among Koreans.MethodsIn this cross-sectional study, we queried for pathogenic NOTCH3 variants in 2 Korean public genome databases: the Korean Reference Genome Database (KRGDB) and the Korean Genome Project (Korea1K). In addition, we screened the 3 most common pathogenic NOTCH3 variants (p.Arg75Pro, p.Arg544Cys, and p.Arg578Cys) for 1,000 individuals on Jeju Island, where the largest number of patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) have been reported in Korea.ResultsThe pathogenic NOTCH3 variant (p.Arg544Cys) was found in 0.12% of sequences in the KRGDB, and 3 pathogenic variants (p.Arg75Pro, p.Arg182Cys, and p.Arg544Cys) were present in 0.44% of the Korea1K database. Of the 1,000 individuals on Jeju Island, we found 2 cysteine-altering NOTCH3 variants (p.Arg544Cys variant in 9 and p.Arg578Cys in 1 individual) in 1.00% of the participants (95% confidence interval: 0.48%–1.83%). The presence of cysteine-altering NOTCH3 variants was significantly associated with a history of stroke (p < 0.001).DiscussionPathogenic NOTCH3 variants are frequently found in the general Korean population. Such a high prevalence of pathogenic variants could threaten the brain health of tens of thousands to hundreds of thousands of older adults in Korea.

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