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HEALTH AND SAFETY (686 journals)            First | 1 2 3 4     

Showing 601 - 203 of 203 Journals sorted alphabetically
Safety     Open Access   (Followers: 2)
Safety and Health at Work     Open Access   (Followers: 75)
Safety and Reliability     Hybrid Journal   (Followers: 4)
Safety in Extreme Environments     Hybrid Journal  
Safety in Health     Open Access   (Followers: 74)
Saintika Medika     Open Access  
Salud & Sociedad: investigaciones en psicologia de la salud y psicologia social     Open Access  
Salud Areandina     Open Access  
Salud Colectiva     Open Access  
Salud(i)ciencia     Open Access  
Salus     Open Access  
Salute e Società     Full-text available via subscription  
Samsun Sağlık Bilimleri Dergisi     Open Access  
Saúde Coletiva     Open Access  
Saúde e Meio Ambiente : Revista Interdisciplinar     Open Access  
Saúde em Redes     Open Access  
Saú     Open Access  
Scandinavian Journal of Work, Environment & Health     Partially Free   (Followers: 13)
School Mental Health     Hybrid Journal   (Followers: 10)
Scientia Medica     Open Access  
Scire Salutis     Open Access  
Serviço Social e Saúde     Open Access  
Sextant : Revue de recherche interdisciplinaire sur le genre et la sexualité     Open Access  
Sexual Health     Hybrid Journal   (Followers: 4)
Sexual Medicine Reviews     Full-text available via subscription   (Followers: 3)
Sierra Leone Journal of Biomedical Research     Open Access  
Sleep and Vigilance : An International Journal of Basic, Translational and Clinical Research     Hybrid Journal   (Followers: 1)
Sleep Health     Full-text available via subscription   (Followers: 4)
Sleep Science and Practice     Open Access   (Followers: 2)
SMAD, Revista Electronica en Salud Mental, Alcohol y Drogas     Open Access   (Followers: 2)
Smart Health     Hybrid Journal  
Social Determinants of Health     Open Access   (Followers: 1)
Social Theory & Health     Hybrid Journal   (Followers: 3)
Social Work in Health Care     Hybrid Journal   (Followers: 27)
Social Work in Mental Health     Hybrid Journal   (Followers: 16)
Social Work in Public Health     Hybrid Journal   (Followers: 13)
Society, Health & Vulnerability     Open Access   (Followers: 4)
Sosiaalilääketieteellinen Aikakauslehti     Open Access  
South African Family Practice     Open Access   (Followers: 3)
South African Journal of Bioethics and Law     Open Access   (Followers: 1)
South African Journal of Child Health     Open Access   (Followers: 1)
South African Journal of Communication Disorders     Open Access   (Followers: 1)
South East Asia Journal of Public Health     Open Access   (Followers: 3)
South Eastern European Journal of Public Health     Open Access   (Followers: 1)
Southern African Journal of Critical Care     Open Access   (Followers: 4)
Southern African Journal of Public Health     Open Access  
Southwest Respiratory and Critical Care Chronicles     Open Access   (Followers: 1)
Space Safety Magazine     Free   (Followers: 49)
Sri Lanka Journal of Child Health     Open Access  
SSM - Population Health     Open Access   (Followers: 5)
SSM - Qualitative Research in Health     Open Access   (Followers: 2)
Stigma and Health     Full-text available via subscription   (Followers: 1)
Sundhedsprofessionelle studier     Open Access  
Sustainable Earth     Open Access   (Followers: 2)
Sustinere : Revista de Saúde e Educação     Open Access  
System Safety : Human - Technical Facility - Environment     Open Access   (Followers: 2)
Systematic Reviews     Open Access   (Followers: 14)
Tanzania Journal of Health Research     Open Access   (Followers: 2)
Technology and Innovation     Full-text available via subscription   (Followers: 2)
Tempus Actas de Saúde Coletiva     Open Access  
Textos & Contextos (Porto Alegre)     Open Access  
The Journal of Aquatic Physical Therapy     Full-text available via subscription   (Followers: 2)
The Journal of Rural Health     Hybrid Journal   (Followers: 7)
The Lancet Child & Adolescent Health     Hybrid Journal   (Followers: 6)
The Lancet Global Health     Open Access   (Followers: 75)
The Lancet Planetary Health     Open Access   (Followers: 5)
The Lancet Regional Health : Americas     Open Access  
The Lancet Regional Health : Europe     Open Access   (Followers: 3)
The Lancet Regional Health : Southeast Asia     Open Access   (Followers: 7)
The Lancet Regional Health : Western Pacific     Open Access   (Followers: 2)
The Meducator     Open Access   (Followers: 1)
Theoretical Issues in Ergonomics Science     Hybrid Journal   (Followers: 8)
Therapeutic Communities : The International Journal of Therapeutic Communities     Hybrid Journal   (Followers: 21)
Tidsskrift for Forskning i Sygdom og Samfund     Open Access  
Tidsskrift for psykisk helsearbeid     Full-text available via subscription  
Tobacco Control     Hybrid Journal   (Followers: 16)
Tobacco Control and Public Health in Eastern Europe     Open Access   (Followers: 3)
Transgender Health     Open Access   (Followers: 4)
Transportation Safety and Environment     Open Access   (Followers: 1)
Tropical Journal of Health Sciences     Full-text available via subscription  
Tropical Medicine and Health     Open Access   (Followers: 2)
TÜBAV Bilim Dergisi     Open Access  
Universal Journal of Public Health     Open Access  
Universidad y Salud     Open Access  
Unnes Journal of Public Health     Open Access  
Value in Health Regional Issues     Hybrid Journal  
Vascular Health and Risk Management     Open Access   (Followers: 2)
Vigilância Sanitária em Debate     Open Access  
Violence and Gender     Full-text available via subscription   (Followers: 23)
Water Quality, Exposure and Health     Hybrid Journal   (Followers: 2)
Western Pacific Surveillance and Response     Open Access  
Women & Health     Hybrid Journal   (Followers: 10)
World Health & Population     Full-text available via subscription   (Followers: 3)
World Medical & Health Policy     Hybrid Journal   (Followers: 2)
Zeitschrift für Arbeitswissenschaft     Hybrid Journal  
Zoonotic Diseases     Open Access   (Followers: 15)
Електромагнітна сумісність та безпека на залізничному транспорті     Open Access  
مجله بهداشت و توسعه     Open Access  

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South African Journal of Child Health
Journal Prestige (SJR): 0.221
Number of Followers: 1  

  This is an Open Access Journal Open Access journal
ISSN (Print) 1994-3032 - ISSN (Online) 1999-7671
Published by African Journals Online Homepage  [260 journals]
  • Care givers role in antimicrobial stewardship for the ‘common cold’ -
           a public health approach utilising the Road to Health Book

    • Authors: Cheshni Jeena, Prakash Jeena
      Pages: 191 - 191
      Abstract: No Abstract.
      PubDate: 2023-02-06
      Issue No: Vol. 16, No. 4 (2023)
  • Sociodemographic factors associated with mixedfeeding practices among a
           cohort of mothers with infants aged 4 - 14 weeks in Tlokwe subdistrict,
           North West Province, South Africa

    • Authors: N M Semenekane, C B Witten, E Swanepoel, H S Kruger
      Pages: 192 - 197
      Abstract: Background. Exclusive breastfeeding for the first 6 months of an infant’s life is the recommended gold standard for infant feeding; however, mixed feeding (MF) is common in various settings. In South Africa (SA), especially in the Tlokwe subdistrict of North West Province, there is little information on the association between sociodemographic factors and infant MF practices.
      Objective. To identify the sociodemographic factors associated with MF practices in a cohort of mothers of infants aged 4 - 14 weeks in the Tlokwe subdistrict of North West.
      Methods. The study setting was 8 health facilities in the Tlokwe subdistrict. Participants comprised postpartum women with infants aged 4 - 14 weeks. Data analysis used SPSS version 25.0. Normal data are presented as means (standard deviation (SD)), skewed data as median values (25th, 75th percentiles) and categorical values as percentages and frequencies. Chi-square tests and logistic regression analysed the association between sociodemographic factors and MF practices at time point 2 (10 - 14 weeks).
      Results. The majority of the mothers were aged between 25 and 29 years, and 37% had at least 2 live children. MF increased with infant age. There was no significant association between any of the sociodemographic variables and MF practices. Logistic regression analysis showed a significant association between increased parity and MF. There was also a significant association between changes in infantfeeding practices after receiving the child support grant at 10 - 14 weeks.
      Conclusion. The high proportion of mothers who mixed-fed indicates that it is still the norm, as in other SA contexts. Therefore, strengthened breastfeeding education regarding appropriate infant-feeding choices in the promotion of infant development and survival for the short and long term should be emphasised.
      PubDate: 2023-02-06
      Issue No: Vol. 16, No. 4 (2023)
  • Food provision in early childhood development centres in Harare, Zimbabwe

    • Authors: A Lewis, Y Smit, M Marais, D G Nel
      Pages: 198 - 204
      Abstract: Background. Poor nutrition practices result in malnutrition, a public health concern that affects a third of children globally. In Zimbabwe, ~27.6% of children under-5 years old are stunted. Some of these children spend long hours in early childhood development centres (ECDCs). Children can receive half to two-thirds of their daily food intake while in care, making ECDCs an ideal entry point to influence child nutrition positively. There are no specific nutrition guidelines for ECDCs in Zimbabwe.
      Objective. The study aimed to investigate food provision at ECDCs of the Northern-Central District of Harare.
      Methods. A descriptive, cross-sectional study with an analytical component was conducted in 15 ECDCs. Fifteen ECD managers (ECDMs) and 14 food handlers (FHs) were included in the study. An observational checklist allowed recording of food preparation and hygiene practices. The Dietary Diversity Score (DDS) of the menu was calculated using the Food and Agriculture Organisation (FAO) 9-group DDS sheet.
      Results. Inadequate food storage facilities and food handling practices were observed. Staff had minimal nutrition-related training. Staff displayed a positive attitude towards their role in providing healthy meals. Barriers to serving healthy meals were inadequate funds, children’s food preferences, unrealistic parental expectations, and external factors. The mean DDS score for menus was 2.8. Meals consisted mainly of starchy items, legumes and meat, and lacked fruit and dairy items.
      Conclusion. National guidelines can improve children’s dietary intake while in day care. In alignment with Sustainable Development Goals 2 and 3, food provision at ECDCs should be a priority.
      PubDate: 2023-02-06
      Issue No: Vol. 16, No. 4 (2023)
  • Children and adolescents with diabetes at Tygerberg Hospital – at risk
           of cardiovascular complications'

    • Authors: N Dookhony, C J Lombard, E W Zöllner
      Pages: 205 - 208
      Abstract: Background. In South Africa, the prevalence of dyslipidaemia and hypertension (HT) in paediatric diabetes patients is unknown.
      Objectives. To determine the prevalence of dyslipidaemia and HT in paediatric diabetic patients seen at Tygerberg Hospital (TBH) and establish whether either is associated with body mass index (BMI), glycosylated haemoglobin (HbA1c) or duration of diabetes. Further, to determine whether the prevalence differs between two specified periods.
      Methods. A retrospective study of 154 diabetic patients, aged 1 - 19 years, seen at TBH between 2007 and 2017, was undertaken. The following data were recorded: age; sex; duration of disease (time since diagnosis); height; weight; blood pressure; HbA1c; high-density lipoprotein cholesterol (HDL-C); triglycerides (TG); and low-density lipoprotein cholesterol (LDL-C).
      Results. More than half of the patients (57.8%; n=89/154; 95% confidence interval (CI) 51.7 - 65.0) had dyslipidaemia, 16.3% (n=24/147) had low HDL-C levels, 53.8% (n=78/145) had high LDL-C levels and 14.9% (n=22/148) had raised TG levels. Nearly half of the patients (48.7%; n=75/154; 95% CI 41.6 - 55.1) were hypertensive and 93.5% (n=144/154) were poorly controlled (HbA1c >7.5%). Dyslipidaemia was not associated with HT or BMI percentile and its prevalence did not change between the two specified periods. Prevalence of dyslipidaemia and HT was not associated with duration of diabetes. About one-third (30.8% (n=4/13); 95% CI 11.9 - 59.3) of the pre‑adolescents and 60.3% (n=85/141; 95% CI 51.9 - 68.1) of the adolescents had dyslipidaemia (p=0.04). Dyslipidaemia was diagnosed in 62.6% (n=82/131) of adolescents with poorly controlled diabetes (p=0.04) and in 71.7% (95% CI 59.0 - 81.7) of patients ≥16 years of age (p=0.005).
      Conclusions. Poor glycaemic control, dyslipidaemia and HT are common in diabetic children, putting them at risk of cardiovascular complications in adulthood.
      PubDate: 2023-02-06
      Issue No: Vol. 16, No. 4 (2023)
  • Exchange blood transfusion for hyperbilirubinaemia: Neonatal
           characteristics and short-term outcomes

    • Authors: K Seake, S Velaphi
      Pages: 209 - 214
      Abstract: Background. Factors that have been associated with severe hyperbilirubinaemia requiring exchange blood transfusion (EBT) are early discharge, late preterm birth and haemolytic disease. Early discharge is a common practice in neonatal care, so it is important to identify and audit neonates who received EBT, in order to identify modifiable factors.
      Objectives. To describe the characteristics and outcomes of infants requiring EBT.
      Methods. We reviewed records of infants admitted with severe jaundice requiring EBT from January 2009 to December 2013. Descriptive analysis of characteristics, clinical presentation, laboratory findings and outcome at discharge was performed.
      Results. A total of 150 neonates received EBT (30 per year), and 101 were reviewed. Of these, 34 (33.7%) were inpatients and 67 (66.3%) were new admissions (2.34/1 000 new admissions). The majority of neonates requiring EBT were born vaginally (86.1%), were late preterm births (20.8%) and were exclusively breastfed (82.2%). The median postnatal age at presentation was 5 days. Clinical signs suggestive of acute bilirubin encephalopathy were present in 24.8% of cases. Among mother-infant pairs with known blood groups, 9.3% and 70.4% had rhesus (Rh) and ABO incompatibility, respectively. A Coombs test was positive in 62.5% of those with Rh incompatibility compared with 31.7% of those with ABO incompatibility. A total of 6 patients (5.9%) died, all within 7 days of EBT, but none during EBT.
      Conclusion. The majority of neonates requiring EBT presented post discharge after birth and had been born vaginally at term, suggesting early discharge after delivery. More than two-thirds of cases were related to ABO incompatibility. Screening for jaundice before discharge must be prioritised, especially for infants born to mothers who are Rh negative or ABO blood group O.
      PubDate: 2023-02-06
      Issue No: Vol. 16, No. 4 (2023)
  • Examining maternal depression, birthweight and linear growth: Findings
           from the South African National Income Dynamics Study

    • Authors: A Harper, A Rothberg, E Chirwa, S Mall
      Pages: 215 - 219
      Abstract: Background. Literature is inconclusive regarding an association between maternal depression, low birthweight (LBW) and stunting in early childhood. While some studies have found an association, others have not. Maternal food insecurity is a risk factor for both maternal depression and reduced linear growth in early childhood.
      Objective. This study examined the relationship between maternal depression, food insecurity, LBW and stunting in the first five years of life. The study employed longitudinal data of South African women and children from the National Income Dynamics Study (NIDS).
      Methods. Mothers were classified into four groups: food insecure and depressed; food insecure only; depressed only; and neither food insecure nor depressed. During data collection, 22% of women were pregnant and the remaining 78% were pre-conception. The primary outcomes were low birthweight and height-for-age (HAZ) scores. Generalised Linear Mixed Effects (GLME) models were used to account for women having more than one child. GLME models with a Gaussian link function were used to compare mean differences in birthweight and HAZ scores. Multivariable regression models were used to examine factors associated with depression.
      Results. Food insecurity was significantly associated with depression among pre-conceptional and pregnant women. There was no statistically significant difference in birthweight or linear growth across groups, but this may be influenced by proximity of depression measurement in relation to outcomes.
      Conclusion. Food insecurity is a potentially modifiable risk factor for depression and may be a confounding factor in studies that have found associations between depression and child health outcomes.
      PubDate: 2023-02-06
      Issue No: Vol. 16, No. 4 (2023)
  • Coverage of vitamin A supplementation, deworming and immunisations:
           Associations with nutritional status among urban children younger than 5
           years in Nelson Mandela Bay, Eastern Cape Province, South Africa

    • Authors: S W McLaren, L Steenkamp
      Pages: 220 - 224
      Abstract: Background. Even though immunisation coverage is tracked through the district health system in South Africa (SA), limited information is available regarding interventions linked to the Expanded Programme on Immunisation (EPI) and the impact on the nutritional status of children <5 years of age.
      Objectives. To describe coverage of immunisations, vitamin A supplementation and deworming among children <5 years old in an urban area of Nelson Mandela Bay, Eastern Cape Province, SA. A secondary objective was to investigate whether a history of missed immunisations, vitamin A supplementation or deworming was associated with wasting or stunting in children.
      Methods. A descriptive study was conducted between September 2015 and February 2016, where cross-sectional anthropometrical data were collected from 1 513 children in 32 pre-schools, together with a retrospective analysis of the participants’ Road-to-Health/clinic cards to collect data on immunisation, vitamin A and deworming. Participants were categorised into 3-month age intervals to facilitate data analysis. Ethical approval was obtained from the Nelson Mandela University Research Ethics Committee (Human).
      Results. Data of 1 496 children were included in the analysis. The prevalence of underweight was 2.5% (n=37), while 11.2% (n=167) were stunted and 1.1% (n=16) were wasted. There were associations between age category and delayed vitamin A supplementation (χ2=32.105; df=19; n=836; p=0.03) and deworming (χ2= 45.257; df=17; n=558; p<0.001), but there was no association between delayed vaccinations and age category. There were no significant differences in anthropometrical indicators for children with delayed vitamin A supplementation, deworming and vaccinations compared with children in this sample who were up to date regarding the relevant indicators. However, weight-for-age, height-for-age and weight-for-height z-scores and stunting risk were associated with low birthweight (LBW) (odds ratio (OR) 4.658; p<0.001).
      Conclusion. Coverage of vitamin A supplementation and deworming but not immunisations was poorer among children in older age categories. A history of delayed vitamin A, deworming and vaccinations was not associated with the anthropometrical status of children. Children with LBW should be considered for more rigorous follow-up, as they are at higher risk of stunting.
      PubDate: 2023-02-06
      Issue No: Vol. 16, No. 4 (2023)
  • Association between physical fitness and anthropometric, cardiovascular
           and socioeconomic risk factors in primary schoolchildren in
           KwaZulu‑Natal Province, South Africa

    • Authors: O M Olagbegi, S B Khoza, T Nadasan, P Govender
      Pages: 225 - 231
      Abstract: Background. Physical fitness (PF) status in children has been identified as a predictor of chronic disease risk factors, and has also been linked to various non-communicable diseases and an increased risk of premature death in adulthood. Studies have shown that PF has been declining. In South Africa (SA), a similar trend is noted and attributed to urbanisation and shifts from traditional active practices to sedentary lifestyles.
      Objectives. To examine possible associations between PF levels and socioeconomic status (SES) and anthropometric and cardiovascular risk factors among 407 primary schoolchildren aged 6 - 13 years in KwaZulu-Natal Province, SA.
      Methods. In a cross-sectional study, children’s PF scores were assessed using the Eurofit test battery: sit and reach, standing long jump (SLJ), sit-ups (SUs), 5 m shuttle run (5m-SRT) and cricket ball throw (CBT). SES was assessed using a structured questionnaire. Standardised procedures were used for anthropometric and cardiovascular measures.
      Results. Girls weighed significantly more than boys (p=0.001) and had a significantly higher body mass index (BMI) (p<0.001), waist circumference (WC) (p<0.001) and hip circumference (HC) (p<0.001), while boys performed significantly better in SLJ (p=0.030), SUs (p=0.022), CBT (p<0.001) and 5m-SRT (p<0.001). A significant low negative correlation was found between PF and BMI (r=–0.151; p=0.002), WC (r=–0.107; p=0.031) and HC (r=0.123; p=0.013). Multinomial logistic regression analysis identified BMI as the main predictor of low PF (odds ratio 1.16; 95% confidence interval 1.01 - 1.33) in this cohort of primary schoolchildren. The occurrence of low PF status in children of primary school age may be influenced by gender and adiposity.
      Conclusion. Assessment of PF at policy levels as part of the health screening process may help create a more explicit depiction of the health status of children and assist in early identification of risk factors.
      PubDate: 2023-02-06
      Issue No: Vol. 16, No. 4 (2023)
  • Magnetic resonance imaging findings and the clinical characteristics of
           children with cerebral palsy at a public sector hospital in Gauteng
           Province, South Africa

    • Authors: C Nel, J K Bezuidenhout, H C Thomson, P W A Meyer
      Pages: 232 - 238
      Abstract: Background. Cerebral palsy (CP) is a common cause of physical impairment in children. Brain magnetic resonance imaging (MRI) can define different neuropathological patterns of brain injury in CP. There are limited data available on MRI findings of children with CP in Africa.
      Objective. To describe the clinical characteristics, risk factors and MRI findings of children with CP attending a developmental clinic at a tertiary hospital in South Africa; and to assess possible associations between the clinical characteristics and pathogenic neuro-imaging patterns.
      Methods. This was a retrospective cross-sectional study. The cohort of 112 children was identified from the clinic’s REDcap database. Clinical information was obtained from existing medical records of the patients. Findings from brain MRI reports were classified according to the MRI classification system (MRICS) for CP. The MRI reports were rated independently by two study investigators. A descriptive analysis was conducted.
      Results. A total of 112 patient files and MRI brain reports were reviewed. Spastic CP was the most common type of CP (n=75%). The most common perinatal risk factors included prematurity (31%) and low birthweight (28%). Nineteen (17%) children acquired CP after the neonatal period. CP sub-type showed a significant association with functional motor impairment classified as per the gross motor function classification system (GMFCS), p<0.001. Predominant grey matter injury (PGMI) was the most common pathogenic MRI pattern identified (30%). The radiological findings (per MRICS) had a significant association with both the CP sub-type (p<0.005) and functional impairment according to the GMFCS (p<0.001).
      Conclusion. Standardised classification of neuro-imaging findings can assist in defining the pathogenesis and clinical manifestations of CP.
      PubDate: 2023-02-06
      Issue No: Vol. 16, No. 4 (2023)
  • Epidemiology and risk factors for acquiring and predicting disease
           severity in meconium aspiration syndrome

    • Authors: R Singh, M Adhikari, P Tinarwo, PM Jeena
      Pages: 239 - 244
      Abstract: Background. Meconium aspiration syndrome (MAS) occurs in approximately 5% of babies born through meconium-stained amniotic fluid. Risk factors associated with severity of MAS in neonates from developing countries has been infrequently described.
      Objective. To identify incidence and risk factors associated with the severity of MAS in a lower middle-income country.
      Method. A retrospective descriptive analysis was conducted on records of neonates diagnosed with MAS at four regional hospitals in the eThekwini district of KwaZulu-Natal, South Africa, between 1 January 2015 and 31 December 2017.
      Results. A total of 187 neonates had been diagnosed with MAS, of whom 157 survived. The overall incidence of MAS was 2 per 1 000 live births. All the neonates were born through thick meconium. The majority (n=119, 63.6%) of patients were male. Asphyxia was documented in 97 cases (51.9%) and was significantly associated with severe disease (p<0.001). Seizures were noted in 91patients (48.7%), of which 86 (94.5%) occurred in neonates with asphyxia. A quarter of the sample (n=47, 25%) were outborn, with severe disease associated significantly with this group (p=0.025). Multiple logistic regression showed that the occurrence of seizures was significantly associated with severe MAS, (adjusted odds ratio = 23.7, 95% confidence interval 7.58 - 97.7; p<0.001).
      Conclusion. Neonates born through thick meconium, with moderate to severe asphyxia that is associated with seizures are at increased risk of developing severe MAS. Close monitoring of labour in the intrapartum period, early recognition of fetal distress and timely obstetric intervention are crucial to prevent asphyxia.
      PubDate: 2023-02-06
      Issue No: Vol. 16, No. 4 (2023)
  • Two South African patients with PGAP3-related Mabry syndrome with
           unusually low alkaline phosphatase levels

    • Authors: S Moosa
      Pages: 245 - 246
      Abstract: Hyperphosphatasia with mental retardation syndrome (HPMRS), also known as Mabry syndrome, is an autosomal recessive disease that is associated with inherited glycosylphosphatidylinositol (GPI) deficiencies. This genetically heterogeneous disorder can be caused by variants in seven genes that encode molecules of the glycosylphosphatidylinositol (GPI)-anchor biosynthesis pathway, namely PIGL, PIGO, PIGV, PIGW, PIGY, PGAP2 and PGAP3. Recently, a pathogenic variant in PGAP3 was identified in 3 unrelated South African patients with HMPRS. Here, two further patients with the exact variant in PGAP3 are described. Classically, HMPRS is associated with elevated alkaline phosphatase (ALP) levels. Interestingly, these two patients had unusually low ALP levels at initial presentation. This is an important observation, as the ALP level is often used as a screening test to decide whether to proceed to confirmatory genetic testing. These patients illustrate that in PGAP3-related Mabry syndrome, ALP levels can be low, albeit a rare finding. Hence, a high suspicion for the disorder should be maintained in patients with typical facial dysmorphic features and severe neurodevelopmental delay, even in the absence of elevated ALP.
      PubDate: 2023-02-06
      Issue No: Vol. 16, No. 4 (2023)
School of Mathematical and Computer Sciences
Heriot-Watt University
Edinburgh, EH14 4AS, UK
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