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Browsing by Author "Heckmann, Jeannine M"

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Evolution of sensory neuropathy after initiation of antiretroviral therapy

Author: Centner, Chad Date: 2018 Introduction: We studied the evolution of sensory neuropathy after antiretroviral therapy (ART) in human immunodeficiency virus–infected South Africans. Methods: Enrolment commenced before ART with 6-monthly follow-ups for 24 months. Symptomatic ... Read more
Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers

Author: Jalali-Sefid-Dashti, Mahjoubeh ; Nel, Melissa ; Heckmann, Jeannine M ; Gamieldien, Junaid Date: 07 Jun 2018 Background We investigated a South African family of admixed ancestry in which the first generation (G1) developed insidious progressive distal to proximal weakness in their twenties, while their offspring (G2) experienced ... Read more
HIV-associated sensory neuropathy in an African cohort a longitudinal study of risk factors predisposing to antiretroviral induced painful neuropathy

Author: Van der Watt, Johan J Date: 2013 Distal sensory polyneuropathy (DSP) amongst human immunodeficiency virus (HIV)-infected patients is frequently a painful and disabling condition. HIV-associated DSP is either a consequence of HIV (HIV-DSP) or antiretroviral-induced toxic ... Read more
Investigating the functionality of African-specific variants in the TGFB1 regulatory region and their potential role in HIV-associated kidney complications

Author: Buys, Joy-Mari Date: 2016 Transforming growth factor beta-1 (TGF-β1) is a cytokine involved in immune modulation and tissue regeneration and has a polymorphic TGFB1 promoter. African-specific single nucleotide polymorphisms (SNPs) have been identified in the TGFB1 ... Read more
A modular and adjustable ptosis crutch as a non-surgical solution to elevating the upper eyelid of myasthenia gravis patients

Author: Findlay, Megan Date: 2017 Myasthenia Gravis (MG) is a treatable autoimmune disorder that affects the neuromuscular junction. MG is characterised by fatigable muscle weakness of voluntary skeletal muscles with the most commonly affected muscles being the eye and facial ... Read more
Motor neuron disease in an African population: A review of current literature and a case series of the flail arm variant in the Western Cape

Author: Cross, Helen Date: 2018 Background: Motor neuron disease (MND) is a devastating neurodegenerative disorder, with recognised phenotypic subtypes. Although prevalent in all parts of the world, little is described in the literature with regards motor neuron disease as ... Read more
Profiling of patient-specific myocytes identifies altered gene expression in the ophthalmoplegic subphenotype of myasthenia gravis

Author: Nel, Melissa ; Prince, Sharon ; Heckmann, Jeannine M Date: 29 Jan 2019 Background: While extraocular muscles are affected early in myasthenia gravis (MG), but respond to treatment, we observe a high incidence of treatment-resistant ophthalmoplegia (OP-MG) among MG subjects with African genetic ancestry. Previously, ... Read more
A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans

Author: Mahungu, Amokelani C ; Monnakgotla, Nomakhosazana ; Nel, Melissa ; Heckmann, Jeannine M Date: 24 Mar 2022 Background Genetic investigations of inherited neuromuscular disorders in Africans, have been neglected. We aimed to summarise the published data and comment on the genetic evidence related to inherited neuropathies ... Read more c b
Treatment-resistant ophthalmoplegia in Myasthenia gravis: extraocular muscle pathology, the role of TGFβ1 and the derivation of induced pluripotency towards 'disease-in-a-dish' modeling

Author: Rautenbach, Robyn Marié Date: 2016 Myasthenia gravis (MG) is an autoimmune disease in which pathogenic antibodies target specific neuromuscular junction proteins, most frequently acetylcholine receptors (AChR). Among those without detectable AChR-antibodies, a subgroup of ... Read more