Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 20 of 86 for “"syndromic"”.
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Automated Syndromic Surveillance using Intelligent Mobile Agents
Current syndromic surveillance systems utilize centralized databases that are neither scalable in storage space nor in computing power. Such systems are limited in the amount of syndromic data that may be collected and analyzed for the early detection of infectious disease outbreaks. However, with …
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Mutation of SLC7A14 Causes Syndromic Hearing Loss
… in wildtype and knockout mice. To confirm syndromic disease, alteration in auditory functions were examined in knockin mice with the missense mutation SLC7A14-p.(Gly330Arg). ABR thresholds, but not DPOAE thresholds, were elevated in the knockin mice at 3.5 months. Additionally, RP patients …
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Risk for Developmental Delay in Non-Syndromic Craniosynostosis
<p>Non-syndromic craniosynostosis is a craniofacial condition where there is a premature fusion of a calvarial suture. There are four subtypes of craniosynostosis, each one reflecting the suture that is fused (metopic, sagittal, coronal synostosis, and lambdoid synostosis). Research suggests that …
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Autosomal dominant non-syndromic hearing impairment. Some clinical aspects
Item does not contain fulltext
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Significance of connexion genes in non-syndromic deafness in Africans
Includes abstract. Includes bibliographical references.
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The genetics of non-syndromic hearing impairment in South Africa
… the dearth of genetics research regarding non-syndromic HI, patients presenting with putative genetic HI were recruited from schools of the deaf across South Africa and two hospitals in Cape Town. The patients were recruited along with their family members, both with and without HI, and their …
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SYNDROMIC HIDRADENITIS SUPPURATIVA: GENOTYPE-PHENOTYPE CORRELATION THROUGH WHOLE-EXOME SEQUENCING IN 10 UNRELATED PATIENTS
Background: The genetics of syndromic hidradenitis suppurativa (HS), an immune-mediated condition associated with systemic comorbidities such as inflammatory bowel diseases and arthritis, has not been completely elucidated. Objective: To describe clinical features and genetic signature of patients …
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Subclinical Phenotypes and Genotypes in Parents of Children with Non-Syndromic Cleft of Lip and/or Palate
… in unaffected parents of children with non-syndromic orofacial clefts (NSOFC) as a cleft-related subclinical phenotype and their association with specific candidate genes.<b><br/></b><b><br/></b><b>Methods</b>: Using a case-control study design with 156 participants of Celtic background (81 …
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Whole exome sequencing to investigate genetic variants of non-syndromic hearing impairment in a population of African ancestry
… hearing impairment being classified as non-syndromic hearing impairment, which occurs when the hearing impairment presents with no other clinical manifestations. Hearing impairment is associated with over 150 genes, of which two connexin genes, GJB2 and GJB6, are the most prevalent genes …
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Prevalence and quality of syndromic diagnosis of sexually transmitted infections within the Kisumu incidence cohort study in Kisumu, Kenya
… and morbidity and mortality of STIs. Even though syndromic approach to the management of STIs is effective, most evaluations have focused on syndromic STI management within STI clinics as opposed to research studies. Partner notification is an integral component of the syndromic approach and is …
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Somatic growth of non-syndromic cleft lip and/or palate subjects compared with the general population in a developing country
A number of studies of somatic growth in non-syndromic cleft lip and palate (CL/P) subjects in developed countries have found small differences from the general population. In contrast there is a dearth of such growth studies in developing countries which enable comparison with the local …
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Genetic aetiology of autosomal recessive non-syndromic hearing loss in sub-Saharan African patients: evaluation using targeted and whole exome sequencing
… Up to 70% of HL of genetic origin are non-syndromic (NS). The mode of inheritance is recessive in nearly 77% of non-syndromic HL. Up to date, more than 100 genes have been associated with HL harbouring more than 1000 causative variants. In many populations of European and Asian descent, …
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The Development and Evaluation of Toxic Syndromes and the Assessment of an Integrated Approach to Syndromic Surveillance with the Palmetto Poison Center
… (GNS and SNS) displayed the flexibility of syndromic surveillance systems to adapt to new public health concerns. The PPC specialists reliability was mostly moderate to substantial which illustrated a high agreement in coding calls, although still room for improvement. This study strengthens …
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Utility of the biofire filmarray pneumonia panel plus assay for syndromic testing of lower-respiratory tract infections in a low-middle-income setting
Background: Determining lower respiratory tract infection (LRTI) aetiology is complex. Culture-based methods are laborious with poor sensitivity. Molecular assays improve detection of potential pathogens, but incorrect interpretation of results may lead to inappropriate antimicrobial therapy. …
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The burden of antenatally undiagnosed major congenital anomalies in live-born babies at a busy secondary level maternity hospital in the Western Cape
… ultrasound and 29% a fetal anomaly scan. Syndromic MCA was present in 36% and non-syndromic MCA in 64%. Non-syndromic MCA included isolated genitourinary (21%), orofacial (19%), gastrointestinal (17%) and cardiovascular defects (15%). The most prevalent syndromic MCA was Trisomy 21 (58%). …
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The burden of antenatally undiagnosed major congenital anomalies in live-born babies at a busy secondary level maternity hospital in the Western Cape
… ultrasound and 29% a fetal anomaly scan. Syndromic MCA was present in 36% and non-syndromic MCA in 64%. Non-syndromic MCA included isolated genitourinary (21%), orofacial (19%), gastrointestinal (17%) and cardiovascular defects (15%). The most prevalent syndromic MCA was Trisomy 21 (58%). …
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Craniosynostosis in a South Africa population
… cases occur in isolation and are so called non-syndromic craniosynostosis. In about 30 % of all cases, anomalies are noted along with the craniosynostosis, often defining a described and recognised syndrome. The aim is to delineate the phenotype observed in a South African population. Methods: …
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Clinical and Molecular Characterization of Auditory Neuropathy
… or the auditory nerve. While the presence of non-syndromic recessive multiplex families is relatively rare, it suggests that a recessive gene accounts for a certain percentage of AN individuals. This research was undertaken to test the hypothesis that non-syndromic recessive AN (NSRAN) is genetic. …
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Neuropsychological profiles of children and adolescents with craniosynostosis
… disorders that feature craniosynostosis are the syndromic craniosynostoses, in which raniosynostosis occurs within a broader symptom complex (e.g. cardiac, respiratory and hearing impairments), and the nonsyndromic craniosynostoses, in which craniosynostosis presents in isolation. Reconstructive …
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The development and validation of a respiratory guideline for nurses in primary care in South Africa
… diseases in primary care. An algorithm-based syndromic guideline integrating common respiratory diseases for nurses was developed after review of a generic respiratory guideline, medical literature, local policies, and qualitative research.
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