Browsing by Author "Aboagye, Elvis Twumasi"
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Item Clinical and therapeutic outcomes of COVID-19 intensive care units (ICU) patients: a retrospective study in Ghana(2021-02-02) Afriyie-Mensah, Jane; Aboagye, Elvis Twumasi; Ganu, Vincent JesseyThe COVID-19 pandemic had caused significant morbidity and mortality, with over a million deaths recorded to date. Mortality recorded among severe critically ill patients admitted to intensive care units (ICU) has been significantly high, especially in most COVID-19 epicenters. Reports on the unique clinical characteristics and outcomes from the ICU admissions are on-going with isolated studies in Africa. This study was a retrospective single-centre study involving all polymerase chain reaction (PCR) confirmed severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) patients admitted to the medical intensive care unit (MICU) of the department of medicine and therapeutics, Korle-Bu Teaching Hospital, over the period of 13th April - 28th June 2020. Twenty-two (22) patients in total fulfilled the inclusion criteria and are included in this report. Patients' socio-demographic characteristics, clinical and laboratory parameters outcomes as well as treatment modalities employed were extracted from their respective medical records and analyzed using STATA version 14. Dyspnoea, fever and cough were most common associated symptoms. The mean duration of admission at the ICU was 4.1 ± 3.0 days with five deaths (22.7%). About 91% (20/22) had at least one comorbidity with hypertension as the most prevalent. The median oxygen saturation/fraction of inspired oxygen (SpO2 /FiO2 ) level was significantly higher in persons with only COVID-19 pneumonia compared to those with complicated respiratory failure (p<0.001). Six (27.3%) out of the 22 patients had non-invasive ventilation, with only 1/22 (4.5%) receiving mechanical ventilation. Although non significant, the mean duration of ICU stay was relatively shorter in patients who received therapeutic doses of anticoagulation (p=0.32). Duration of treatment with methylprednisolone was significantly associated with patient outcomes (p=0.04) and serum ferritin levels had a tendency to negatively affect outcome (p=0.06). Clearly there are still no specific targeted medications for COVID19 treatment, except for empirically symptoms guided treatments and management of mild to critically ill patients. Early use of systemic corticosteroids for severe to critically ill patients in the ICU using S/F ratio and CRP levels may improveItem Connexin Genes Variants Associated with Non-Syndromic Hearing Impairment: A Systematic Review of the Global Burden(MDPI, 2020-10-28) Adadey, Samuel Mawuli; Wonkam-Tingang, Edmond; Aboagye, Elvis TwumasiMutations in connexins are the most common causes of hearing impairment (HI) in many populations. Our aim was to review the global burden of pathogenic and likely pathogenic (PLP) variants in connexin genes associated with HI. We conducted a systematic review of the literature based on targeted inclusion/exclusion criteria of publications from 1997 to 2020. The databases used were PubMed, Scopus, Africa-Wide Information, and Web of Science. The protocol was registered on PROSPERO, the International Prospective Register of Systematic Reviews, with the registration number “CRD42020169697”. The data extracted were analyzed using Microsoft Excel and SPSS version 25 (IBM, Armonk, New York, United States). A total of 571 independent studies were retrieved and considered for data extraction with the majority of studies (47.8% (n = 289)) done in Asia. Targeted sequencing was found to be the most common technique used in investigating connexin gene mutations. We identified seven connexin genes that were associated with HI, and GJB2 (520/571 publications) was the most studied among the seven. Excluding PLP in GJB2, GJB6, and GJA1 the other connexin gene variants (thus GJB3, GJB4, GJC3, and GJC1 variants) had conflicting association with HI. Biallelic GJB2 PLP variants were the most common and widespread variants associated with non-syndromic hearing impairment (NSHI) in different global populations but absent in most African populations. The most common GJB2 alleles found to be predominant in specific populations include; p.Gly12ValfsTer2 in Europeans, North Africans, Brazilians, and Americans; p.V37I and p.L79Cfs in Asians; p.W24X in Indians; p.L56Rfs in Americans; and the founder mutation p.R143W in Africans from Ghana, or with putative Ghanaian ancestry. The present review suggests that only GJB2 and GJB3 are recognized and validated HI genes. The findings call for an extensive investigation of the other connexin genes in many populations to elucidate their contributions to HI, in order to improve gene-disease pair curations, globallyItem Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairment(2021-07-05) Adadey, Samuel M; Schrauwen, Isabelle; Aboagye, Elvis TwumasiCongenital hearing impairment (HI) is genetically heterogeneous making its genetic diagnosis challenging. Investigation of novel HI genes and variants will enhance our understanding of the molecular mechanisms and to aid genetic diagnosis. We performed exome sequencing and analysis using DNA samples from affected members of two large families from Ghana and Pakistan, segregating autosomal-dominant (AD) non-syndromic HI (NSHI). Using in silico approaches, we modeled and evaluated the effect of the likely pathogenic variants on protein structure and function. We identified two likely pathogenic variants in SLC12A2, c.2935G>A:p.(E979K) and c.2939A>T:p.(E980V), which segregate with NSHI in a Ghanaian and Pakistani family, respectively. SLC12A2 encodes an ion transporter crucial in the homeostasis of the inner ear endolymph and has recently been reported to be implicated in syndromic and non-syndromic HI. Both variants were mapped to alternatively spliced exon 21 of the SLC12A2 gene. Exon 21 encodes for 17 residues in the cytoplasmatic tail of SLC12A2, is highly conserved between species, and preferentially expressed in cochlear tissues. A review of previous studies and our current data showed that out of ten families with either AD non-syndromic or syndromic HI, eight (80%) had variants within the 17 amino acid residue region of exon 21 (48 bp), suggesting that this alternate domain is critical to the transporter activity in the inner ear. The genotypic spectrum of SLC12A2 was expanded and the involvement of SLC12A2 in ADNSHI was confirmed. These results also demonstrate the role that SLC12A2 plays in ADNSHI in diverse populations including sub-Saharan Africans.