An analysis of outcomes in children with cystic fibrosis in a tertiary African centre: A retrospective study.

AbstractBackground: Cystic Fibrosis (CF) is a common genetic disorder in Caucasians that has become increasingly prevalent in populations of African descent. The clinical presentation in African children with CF is commonly related to nutritional and growth abnormalities.Aims/Objectives: To describe clinical, laboratory and spirometric characteristics of children followed up at the CF Clinic at Inkosi Albert Luthuli Central Hospital, Durban, South Africa.Methods: A retrospective chart review of clinical, laboratory and spirometric data of patients registered from January 2013 to January 2016.Results: The data was reviewed for 15 patients mean age 132 months (range 26- 219 months), with 53% males. 60% of these children were Caucasians, 26,7% of these being of black African descent. Collectively, the mean age of diagnosis was 45 months (0- 156), although this was higher in the non-Caucasians at 104 months (range 48-156) versus 1,3 months (range 0-3) in Caucasians. The Caucasian group had better nutritional status when compared to non-Caucasians with BMI of 17,2kg/m2 vs 14,5 kg/m2, respectively. Age at diagnosis had a negative correlation with weight-for-age Z score (-0,61; p < 0.05) and BMI (-0,54; p<0.05). The mean FEV1 % predicted was 70.0 (16,1- 120,2). FEV1% predicted had a positive correlation with both weight z-score (0,83; p < 0.001) and BMI (0.59; p < 0.05). Chronic pseudomonas infection occurred only in 2 patients, both of whom were above the age of 16 years. On mutational analysis 5 of the non-Caucasian patients had no mutations identified on the 30 panel mutation used for testing. phelF508.del was the most commonly identified mutation in Caucasians; with 4 homozygotes and 4 heterozygotes.Conclusion: Cystic fibrosis is diagnosed late in non-Caucasian children in South Africa impacting their growth and lung functions. There is a need for a genetic panel that includes mutations specific for children of African descent.

Download Full-text

Cystic Fibrosis in two Ghanaian Children

10.25259/jpats_10_2021 ◽

2021 ◽

Vol 2 ◽

pp. 167-170 ◽

Cited By ~ 1

Author(s):

Sandra Kwarteng Owusu ◽

Gabrielle Obeng-Koranteng ◽

Sandra Laryea Odai ◽

Marie Charlyne Fatima Kilba ◽

Parbie Abbeyquaye ◽

...

Keyword(s):

Cystic Fibrosis ◽

Genetic Testing ◽

Severe Acute Malnutrition ◽

Case Reports ◽

African Descent ◽

Genetic Disorder ◽

Pancreatic Insufficiency ◽

Acute Malnutrition ◽

Diagnostic Tools ◽

Sweat Testing

Cystic fibrosis (CF) is a severe life-limiting genetic disorder resulting from mutations in the cystic fibrosis transmembrane regulator gene and is reported to be more prevalent among Caucasians than people of African descent. The past three decades have seen a gradual increase in the reporting of CF in non-European populations with CF in all regions including Africa. We report on the first two known Ghanaian children diagnosed with CF presenting early in infancy. The first patient presented with severe acute malnutrition and persistent diarrhea resulting from severe exocrine pancreatic insufficiency. In the second patient, there were recurrent wheeze and recurrent pneumonia, severe dehydration with metabolic alkalosis. Diagnosis of CF in Ghana is challenging due to the absence of diagnostic tools such as sweat testing equipment. In the first patient, sweat testing and genetic testing were done in South Africa. In the second patient, sweat testing was not done but diagnosis was confirmed by genetic testing. Both patients presented with classical CF symptoms including Pseudomonas aeruginosa airway infection before age 6 months. Both children are currently alive and healthy on appropriate treatment. These case reports highlight the growing evidence of CF occurring in people of African descent and the diagnostic challenges faced in Africa.

Download Full-text

Cholelithiasis in Cystic Fibrosis Patients in a Tertiary Care Center in Saudi Arabia

10.36502/2020/asjpch.6155 ◽

2020 ◽

Vol 2 (2) ◽

pp. 37-43

Author(s):

Banjar H ◽

Al-Ghuneim L ◽

Al-Shammari A ◽

Al-Mulhim FA ◽

Al-Eid M ◽

...

Keyword(s):

Cystic Fibrosis ◽

Clinical Laboratory ◽

Care Center ◽

Pancreatic Insufficiency ◽

Tertiary Care ◽

Age Groups ◽

Retrospective Chart Review ◽

Abdominal Ultrasound ◽

Abdominal Sonography

Introduction: Cholelithiasis has been reported in 12%-24% of Cystic Fibrosis (CF) patients, and is usually made up of cholesterol gallstones. These abnormalities are frequently asymptomatic and can include intra and extrahepatic ducts, gallbladder thickening and contraction, micro gallbladders, and cholelithiasis. Abdominal sonography is routinely used in order to detect these abnormalities. Objectives: To obtain the prevalence of gall stones (Cholelithasis) in CF patients and its relation to other clinical, laboratory, radiological, and genetic data. Methodology: A retrospective chart review as part of the CF registry data from the period 1st January 1984 – 1st June 2018. All confirmed CF the patients of all age groups that have US studies done were included in the study. Patients with positive gallstones or sludge were evaluated and discussed. Results: A total of 391 confirmed CF patients were involved. Out of them, 252 patients had an abdominal ultrasound, 7 patients (3%) had gallstones on the abdominal US, 8 patients (3%) were revealed to have sludge and 237 patients (94%) had normal gallbladders. Pancreatitis was found in 4 patients (2%). 191 patients (76%) had pancreatic insufficiency.77 patients had follow up abdominal ultrasounds and 5 patients (7%) were found to have persistent gallstones, 4 patients (5%) had persistent sludge and 68 patients (88%) remained negative for gallstones. 2 patients required cholecystectomy. Conclusion: Cholelithiasis is a common complication of CF disease; its incidence is more than the general population. Thus, we recommend that every CF patient get an ultrasonography study as part of liver disease screening to rule out any Gallbladder pathology.

Download Full-text

Cystic fibrosis in black African children in South Africa: a case control study

Journal of Cystic Fibrosis ◽

10.1016/j.jcf.2019.09.007 ◽

2020 ◽

Vol 19 (4) ◽

pp. 540-545 ◽

Cited By ~ 1

Author(s):

Sandra Kwarteng Owusu ◽

Brenda M. Morrow ◽

Debbie White ◽

Susan Klugman ◽

Aneesa Vanker ◽

...

Keyword(s):

South Africa ◽

Cystic Fibrosis ◽

Case Control Study ◽

Case Control ◽

Black African ◽

African Children ◽

Control Study

Download Full-text

Antiretroviral initiation of pregnant women and antenatal care booking practices in eThekwini District, KwaZulu-Natal, South Africa

African Journal of Primary Health Care & Family Medicine ◽

10.4102/phcfm.v10i1.1606 ◽

2018 ◽

Vol 10 (1) ◽

Author(s):

Nomonde Nozulu ◽

Bernard M. Gaede

Keyword(s):

South Africa ◽

Antenatal Care ◽

Pregnant Women ◽

Gestational Age ◽

Retrospective Chart Review ◽

Art Initiation ◽

Kwazulu Natal ◽

The Mean ◽

Study Sites ◽

Mother To Child

Background: The introduction of antiretroviral therapy (ART) in South Africa began as part of the prevention of mother-to-child transmission programme. For significant reduction of vertical transmission, early antenatal care booking and ART initiation are necessary.Aim: This study aimed to evaluate ART initiation and booking practices of women attending antenatal care in eThekwini district during financial years (FY) 2010/2011 and 2013/2014.Methods: An observational study used a retrospective chart review at four eThekwini district community health centres (CHC). From these CHCs, records of women that initiated ART in FY10/11 and FY13/14 were reviewed and compared for ART initiation delays and booking practices.Results: A total of 2749 pregnant women who attended antenatal care (ANC) at the study sites were found eligible for ART; of these, 49% (n = 1334) attended ANC in FY10/11 while 51% (n = 1414) attended in FY13/14. In FY10/11, 46% (n = 610) and 60 % (n = 855) of the womenwere initiated on ART during pregnancy. The mean gestational age at booking for FY10/11 was 20.88 (standard deviation [s.d.] = 5.6) and 18.40 (s.d. = 6.2) in FY13/14. The mean gestational age at ART initiation for women who initiated ART in FY10/11 was 26.30 (s.d. = 6.02) and in FY13/14 it was 19.06 (s.d. = 6.86).Conclusion: In FY13/14 ART initiations occurred within 4 days after booking. ANC booking before 20 weeks was found to have improved between the two years from 39% to 58%;however, on average, in both years women booked during the second trimester.

Download Full-text

A Comprehensive Assay for CFTR Mutational Analysis Using Next-Generation Sequencing

Clinical Chemistry ◽

10.1373/clinchem.2013.206466 ◽

2013 ◽

Vol 59 (10) ◽

pp. 1481-1488 ◽

Cited By ~ 36

Author(s):

Ahmad N Abou Tayoun ◽

Christopher D Tunkey ◽

Trevor J Pugh ◽

Tristen Ross ◽

Minita Shah ◽

...

Keyword(s):

Cystic Fibrosis ◽

Next Generation Sequencing ◽

Mutational Analysis ◽

Genetic Disorder ◽

Sequencing Error ◽

Personal Genome ◽

Ion Torrent ◽

Next Generation ◽

Cftr Mutations ◽

Generation Sequencing

BACKGROUND Cystic fibrosis is a life-threatening genetic disorder that has been associated with mutations in the CFTR [cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)] gene. Hundreds of CFTR mutations have been detected to date. Current CFTR genotyping assays target a subset of these mutations, particularly a mutation panel recommended by the American College of Medical Genetics for carrier screening of the general population. Fast sequencing of the entire coding sequence in a scalable manner could expand the detection of CFTR mutations and facilitate management of costs and turnaround times in the clinical laboratory. METHODS We describe a proof-of-concept CFTR assay that uses PCR target enrichment and next-generation sequencing on the Ion Torrent Personal Genome Machine™ (PGM™) platform. RESULTS The scalability of the assay was demonstrated, with an average mean depth of coverage ranging from 500× to 3500×, depending on the number of multiplexed patient samples and the Ion Torrent chip used. In a blinded study of 79 previously genotyped patient DNA samples and cell lines, our assay detected most of the mutations, including single-nucleotide variants, small insertions and deletions, and large copy-number variants. The reproducibility was 100% for detecting mutations in independent runs. Our assay demonstrated high specificity, with only 2 false-positive calls (at 2184delA) found in 2 samples caused by a sequencing error in a homopolymer stretch of sequence. The detection rate for variants of unknown significance was very low in the targeted region. CONCLUSIONS With continued optimization and system refinements, PGM sequencing promises to be a powerful, rapid, and scalable means of clinical diagnostic sequencing.

Download Full-text

Cystic fibrosis in South Africa: spectrum of disease and determinants of outcome

ERJ Open Research ◽

10.1183/23120541.00856-2020 ◽

2021 ◽

pp. 00856-2020

Author(s):

M. Zampoli ◽

J. Verstraete ◽

M. Frauendorf ◽

R. Kassanjee ◽

L. Workman ◽

...

Keyword(s):

South Africa ◽

Cystic Fibrosis ◽

Forced Expiratory Volume ◽

Cross Sectional ◽

Middle Income ◽

Black African ◽

Lower Socioeconomic ◽

Low Weight ◽

Multivariable Regression ◽

Mrsa Infection

IntroductionLittle is known about cystic fibrosis (CF) in low-middle income settings. This study aimed to describe the spectrum and outcomes of CF in South Africa (SA) from the recently established SA CF registry (SACFR).MethodsDemographic, diagnosis and clinical data was extracted from the SACFR. Cross-sectional univariable and multivariable regression analysis of best forced expiratory volume in 1 s (FEV1; age≥6 years) and nutrition (all ages) in 2018 was conducted to investigate factors associated with severe lung disease (SLD; FEV1 ≤3.0 z-score) and undernutrition.ResultsBy December 2018, ancestry of 447 individuals included in the SACFR was Caucasian (315; 70%), mixed (87; 19%) and black African (41; 9%). Median diagnosis age was 7.6 months (IQR 2.7,37.1). Genotype was p.Phe508del homozygous (220; 49%); p.Phe508del heterozygous (144; 32%) and neither p.Phe508del or unknown Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) variant in 83 (19%); the second most frequent CFTR variant was 3120+1G>A, common in black Africans. Median age of patients in 2018 was 14.7 years (IQR 7.4,24.4). SLD was independently associated with chronic methicillin resistant S.aureus (MRSA) (aOR 16.75; 95% CI 1.74–161.50), undernutrition (aOR 5.20; 95% CI 2.23–12.13) and age (aOR 2.23 per 10-years; 95% CI 1.50–3.31). Undernutrition was associated in univariable analysis with low weight at diagnosis, non-caucasian ancestry, chronic P.aeruginosa infection and lower socioeconomic status.ConclusionInterventions targeting MRSA infection and nutrition are needed to improve CF outcomes in SA. Most people with CF in SA are eligible for highly effective CFTR modulator therapy.

Download Full-text

Coronavirus Related Mortality in the Geriatrics Ambulatory Practice

Journal of Primary Care & Community Health ◽

10.1177/21501327211025385 ◽

2021 ◽

Vol 12 ◽

pp. 215013272110253

Author(s):

Claudene J. George ◽

Alice Guo

Keyword(s):

Older Adults ◽

Retrospective Chart Review ◽

Black African ◽

Medical Comorbidities ◽

The Mean ◽

Ambulatory Practice ◽

Outpatient Practice ◽

Atypical Presentations ◽

Active Patients ◽

Related Mortality

Background Older adults often have atypical presentations of common diseases and COVID-19 is no exception. Presentations range from asymptomatic to overwhelming symptoms that result in hospitalization, intubation, or death. The number of COVID-19 related deaths among older adults in the outpatient practice during the peak of the pandemic is unclear. Methods The objective is to describe the COVID-19 status and clinical characteristics of patients in a Geriatrics Ambulatory Practice who died during the peak of the COVID-19 pandemic. Design: Retrospective chart review Participants: 54 adults age 65 years and older. Methods: COVID-19 status defined by positive test result and presumed COVID-19 status based upon clinical presentation. Results Out of 1200 active patients in the Geriatrics Ambulatory Practice, 54 (4.5%) died between January 1st, 2020 and June 30th, 2020. The study sample was 63% female, 33% Hispanic/Latino, 27% Black/African American, and 22% white. The mean (SD) age was 86(8.6) years, range (72-107 years). The most prevalent medical comorbidities in decreasing order of frequency were hypertension (88.9%), diabetes (51.9%), and cognitive impairment (51.9%). Nineteen (35%) were COVID-19 positive and 8 had presumed COVID-19. There were no statistically significant differences in age, gender, race/ethnicity, and medical comorbidities between the COVID-19 or presumed COVID-19 group compared to those with No COVID-19. Conclusion Approximately 35% of Geriatric patients who died during the first 6 months of 2020 had confirmed COVID-19 and an additional 15% had presumed COVID-19. The actual number of COVID-19 related deaths among older adults in the ambulatory practice during the peak of the pandemic is difficult to estimate and likely underestimated.

Download Full-text

Profile of parasuicide cases attending Brits Hospital, North West Province, South Africa: a 5-year chart review

10.21203/rs.3.rs-56437/v1 ◽

2020 ◽

Author(s):

Tombo Bongongo ◽

K Nkuinika ◽

DK Nzaumvila ◽

A Adfolalu ◽

H Okonta ◽

...

Keyword(s):

South Africa ◽

Chart Review ◽

Psychiatric Symptoms ◽

Retrospective Chart Review ◽

Secondary Level ◽

Level Of Education ◽

North West ◽

Relationship Problem ◽

North West Province ◽

The Mean

Abstract Background Parasuicide is referred to as an apparent attempt at suicide without the actual intention of killing oneself. Its prevalence continues to increase in the Brits/Madibeng community. The current study aimed to determine the profile of parasuicide cases attending Brits Hospital, North West Province of South Africa, from 2013 to 2018. Methods The basis of this article is a 5-year retrospective chart review of parasuicide cases attending Brits Hospital from 01 January 2013 to 01 January 2018. Brits Hospital is a 200-bed hospital serving people in the Brits/Madibeng community. Results Of the 477 parasuicide cases, the mean age was 26.6, the median 24 years with minimum and maximum ages respectively of 12 and 64 years. The majority (257; 53.88%) were between 16 and 25 years of age and comprised females (297; 62.26%), African (391; 82.84%), single people (352; 73.79%), unemployed (304; 63.7%) and those who had completed the secondary level of education, 300 (62.9%). The highest number of cases (85, 86 and 87) were registered during the odd years (2013, 2015 and 2017), while the lowest number (68, 75 and 76) during even years, i.e. 2014, 2016 and 2017. The summer months of January and February registered more cases, respectively 65 (13.63%) and 64 (13.42%). The majority of cases (430; 90.15%) represented a first attempt at suicide. Overdose of medication (300; 62.82%) was the most common method used and a relationship problem the main reason that led to the attempt. Most cases (409; 85.74%) did not have any medical or psychiatric symptoms prior to the parasuicide crisis. Conclusion This study painted a clear picture of parasuicidal cases attended at Brits Hospital, being younger between 16-25, mainly female, single, unemployed, the method used for parasuicide mostly overdose of medication and done mainly in Januaries and Februaries. Furthermore, reason for the parasuicidal attempt were relationship problem as well as unemployment. In most of the cases, it was the first attempt.

Download Full-text

WS04-4 Cystic fibrosis in black African children in South Africa: a case control study

Journal of Cystic Fibrosis ◽

10.1016/s1569-1993(19)30139-0 ◽

2019 ◽

Vol 18 ◽

pp. S7-S8 ◽

Cited By ~ 1

Author(s):

S. Kwarteng Owusu ◽

B. Marrow ◽

D. White ◽

S. Klugman ◽

A. Vanker ◽

...

Keyword(s):

South Africa ◽

Cystic Fibrosis ◽

Case Control Study ◽

Case Control ◽

Black African ◽

African Children ◽

Control Study

Download Full-text

Reframing Xenophobia in South Africa as Colour-Blind: The Limits of the Afro Phobia Thesis

MIGRATION LETTERS ◽

10.33182/ml.v17i3.789 ◽

2020 ◽

Vol 17 (3) ◽

pp. 433-444

Author(s):

Amanuel Isak Tewolde

Keyword(s):

South Africa ◽

South African ◽

Analytical Framework ◽

Conflict Theory ◽

Black African ◽

South Africans ◽

Theoretical Perspectives ◽

Online Newspaper ◽

Close Proximity ◽

Realistic Conflict Theory

Many scholars and South African politicians characterize the widespread anti-foreigner sentiment and violence in South Africa as dislike against migrants and refugees of African origin which they named ‘Afro-phobia’. Drawing on online newspaper reports and academic sources, this paper rejects the Afro-phobia thesis and argues that other non-African migrants such as Asians (Pakistanis, Indians, Bangladeshis and Chinese) are also on the receiving end of xenophobia in post-apartheid South Africa. I contend that any ‘outsider’ (White, Asian or Black African) who lives and trades in South African townships and informal settlements is scapegoated and attacked. I term this phenomenon ‘colour-blind xenophobia’. By proposing this analytical framework and integrating two theoretical perspectives — proximity-based ‘Realistic Conflict Theory (RCT)’ and Neocosmos’ exclusivist citizenship model — I contend that xenophobia in South Africa targets those who are in close proximity to disadvantaged Black South Africans and who are deemed outsiders (e.g., Asian, African even White residents and traders) and reject arguments that describe xenophobia in South Africa as targeting Black African refugees and migrants.

Download Full-text