Karniza Khalid
Current Organizations / Institutes
The organizations/institutes from the scholar's latest article
Previous Organizations / Institutes
The organizations / institutes from the scholar's other articles in the past ten years
Research Subjects
Karniza Khalid has a total of 51 co-authors. Here are the top co-authors by number of shared publications:
- Amalina Anuar
Clinical Research Centre, Hospital Tuanku Fauziah, Ministry of Health Malaysia, 01000 Kangar, Perlis, Malaysia
4 shared publications - Ruzita Jamaluddin
Clinical Research Centre, Hospital Tuanku Fauziah, Ministry of Health Malaysia, Kangar 01000, Malaysia
4 shared publications Abdul Nasir Mohamed Abdul Kadher
2 shared publicationsIda Zaliza Zainol Abidin
Department of Emergency and Trauma, Hospital Tuanku Fauziah, Kangar, 01000 Perlis, Malaysia
2 shared publications- Kun Yun Lee
Institute for Health Management, National Institutes of Health, Ministry of Health Malaysia, Block B1, NIH Complex, No. 1 Jalan Setia Murni U13/52, Section U13, Setia Alam, Shah Alam, 40170, Malaysia, 60 333628314
2 shared publications - Nur Farihan Mukhtar
Department of Obstetrics and Gynecology, Hospital Tuanku Fauziah, Ministry of Health Malaysia, Kangar 01000, Malaysia
2 shared publications
Latest Publications
- 1 January 2024
- Published by AIP Publishing in AIP Conference Proceedings
- Vol. 2987 (1) , 020014
Exploring the psychological motivation fuelling COVID-19 infodemic: A population-based study
Despite efforts of legitimate health education, fake news related to COVID-19 are prevalent in the social media. Our study seek to explore and understand the hu Despite efforts of legitimate health education, fake news related to COVID-19 are prevalent in the social media. Our study seek to explore and understand the hu
- 1 January 2024
- Published by AIP Publishing in AIP Conference Proceedings
- Vol. 2987 (1) , 020014
Exploring the psychological motivation fuelling COVID-19 infodemic: A population-based study
Despite efforts of legitimate health education, fake news related to COVID-19 are prevalent in the social media. Our study seek to explore and understand the hu Despite efforts of legitimate health education, fake news related to COVID-19 are prevalent in the social media. Our study seek to explore and understand the hu
- 1 September 2023
- Vol. 20 (3)
Evaluating Telemedicine Perception and Readiness among Healthcare Workers in Malaysia
Increased access to healthcare is a priority for public healthcare services. Our study investigated healthcare workers’ (HCWs) perceptions and readiness to use telemedicine services. A self-administered online questionnaire was designed, validated, and disseminated among public HCWs in a single tertiary healthcare facility from a Malaysian northwestern state. Sections include sociodemographics, perception, and readiness domains. Descriptive and univariate statistics were used to determine correlation between selected parameters. A total of 288 HCWs participated: 66.3 percent agreed that new technology can be used alongside current practice. On core readiness, 29.1 percent would not consider telemedicine without prior physical interaction with patients. For clinical readiness, 56.6 percent would consider telemedicine services for clinical practice. All perception domains (except disadvantage) had significant positive correlations with readiness domains (r=0.12-0.57, p<0.05). The perceptions and readiness of telemedicine among our public HCWs were suboptimal. Our findings denote potential limitation on cybersecurity and clinical practice gaps.
- 1 September 2023
- Vol. 20 (3)
Evaluating Telemedicine Perception and Readiness among Healthcare Workers in Malaysia
Increased access to healthcare is a priority for public healthcare services. Our study investigated healthcare workers’ (HCWs) perceptions and readiness to use telemedicine services. A self-administered online questionnaire was designed, validated, and disseminated among public HCWs in a single tertiary healthcare facility from a Malaysian northwestern state. Sections include sociodemographics, perception, and readiness domains. Descriptive and univariate statistics were used to determine correlation between selected parameters. A total of 288 HCWs participated: 66.3 percent agreed that new technology can be used alongside current practice. On core readiness, 29.1 percent would not consider telemedicine without prior physical interaction with patients. For clinical readiness, 56.6 percent would consider telemedicine services for clinical practice. All perception domains (except disadvantage) had significant positive correlations with readiness domains (r=0.12-0.57, p<0.05). The perceptions and readiness of telemedicine among our public HCWs were suboptimal. Our findings denote potential limitation on cybersecurity and clinical practice gaps.
- Open Access
- 28 August 2023
- Published by The Endocrine Society in Journal of the Endocrine Society
- Vol. 7 (10) , bvad112
Effects of Ketogenic Diet on Reproductive Hormones in Women With Polycystic Ovary Syndrome
Context Ketogenic diet has recently made a comeback as a part of lifestyle and dietary modifications in patients with polycystic ovary syndrome (PCOS). Despite studies suggesting its beneficial effects in reversing hormonal imbalance in women with PCOS, evidence has been patchy and derived from small populations under varying conditions. Objective To pool evidence from clinical trials to study the effects of ketogenic diet on reproductive hormones (LH/FSH ratio, free testosterone, serum progesterone) and observe evidence of weight change. Methods PubMed, ScienceDirect, Scopus, and Web of Science core collection were searched for clinical trials evaluating the effects of ketogenic diet in established PCOS women consistent with the Rotterdam classification. Single- or double-arm studies that included an outcome of interest were included. Two investigators worked independently to screen potential articles and a designated investigator extracted data on study characteristics and evaluated the outcomes. Data were pooled using a random-effects model. The quality of selected studies was assessed using the Cochrane Risk of Bias Tool. Results Following ≥45 days of intervention with ketogenic diet among women with PCOS, significant improvement was observed in reproductive hormone levels, with reduced LH/FSH ratio (d −0.851; 95% CI −1.015, −0.686; P < .001), reduced serum free testosterone (d −0.223; 95% CI −0.328, −0.119; P < .001), and an increased in serum sex hormone binding globulin (SHBG) (d 9.086; 95% CI 3.379, 14.792; P = .002). Significant weight loss was unanimously observed in all included studies (d −11.56; 95% CI −14.97, −8.15; P < .001). Conclusion Short-term ketogenic diet potentially improved hormonal imbalances commonly associated with PCOS.
- 28 August 2023
- Published by The Endocrine Society in Journal of the Endocrine Society
- Vol. 7 (10) , bvad112
Open AccessEffects of Ketogenic Diet on Reproductive Hormones in Women With Polycystic Ovary Syndrome
Context Ketogenic diet has recently made a comeback as a part of lifestyle and dietary modifications in patients with polycystic ovary syndrome (PCOS). Despite studies suggesting its beneficial effects in reversing hormonal imbalance in women with PCOS, evidence has been patchy and derived from small populations under varying conditions. Objective To pool evidence from clinical trials to study the effects of ketogenic diet on reproductive hormones (LH/FSH ratio, free testosterone, serum progesterone) and observe evidence of weight change. Methods PubMed, ScienceDirect, Scopus, and Web of Science core collection were searched for clinical trials evaluating the effects of ketogenic diet in established PCOS women consistent with the Rotterdam classification. Single- or double-arm studies that included an outcome of interest were included. Two investigators worked independently to screen potential articles and a designated investigator extracted data on study characteristics and evaluated the outcomes. Data were pooled using a random-effects model. The quality of selected studies was assessed using the Cochrane Risk of Bias Tool. Results Following ≥45 days of intervention with ketogenic diet among women with PCOS, significant improvement was observed in reproductive hormone levels, with reduced LH/FSH ratio (d −0.851; 95% CI −1.015, −0.686; P < .001), reduced serum free testosterone (d −0.223; 95% CI −0.328, −0.119; P < .001), and an increased in serum sex hormone binding globulin (SHBG) (d 9.086; 95% CI 3.379, 14.792; P = .002). Significant weight loss was unanimously observed in all included studies (d −11.56; 95% CI −14.97, −8.15; P < .001). Conclusion Short-term ketogenic diet potentially improved hormonal imbalances commonly associated with PCOS.
- Open Access
- 25 August 2023
- Published by MDPI AG in Psychiatry International
- Vol. 4 (3) , 246-254
Predictors of Treatment Response in Patients with Treatment-Resistant Depression: Outcomes of a Randomized Trial
Objective: This report aims to compare the effectiveness between electroconvulsive therapy (ECT) and transcranial direct stimulation (tDCS) among patients with treatment-resistant depression (TRD) and the associated factors. Methods: This was a secondary data analysis of a randomized, controlled, open-label trial conducted from 1 July 2018, to 31 December 2018. The dataset of 90 patients included in the study was retrieved from Mendeley Data. Patients with TRD were randomized 1:1 into either receiving ECT or tDCS. A good treatment response was determined as an improvement from the Hamilton Depression (HAM-D) baseline score at a rate of more than or equal to 50% at the end of a 2-week intervention. A mixed-effect logistic regression was performed to explain the hierarchical data structure of predictors to successful treatment outcome. Results: The largest magnitude of change was consistently observed in the ECT treatment arm across both HAM-D score and the clinical global impression severity scale (CGI-S) scale (p < 0.001). Lower baseline HAM-D scores (OR: 0.72, 95% CI: 0.58, 0.92), lower baseline CGI-S scale (OR: 0.30, 95% CI: 0.17, 0.55), and ECT as the choice of treatment modality (OR: 14.0, 95% CI: 5.08, 38.58) independently predicted successful therapy among TRD patients, while modelling with multiple logistic regression determined that low socio-economic status (aOR: 20.01, 95% CI: 1.89, 211.47), ECT (aOR: 31.7, 95% CI: 6.32, 159.0) and a lower baseline CGI-S scale (aOR: 0.18, 95% CI: 0.06, 0.57) were significantly predictive of a positive treatment outcome among patients with TRD. Conclusions: ECT was more effective in alleviating depressive symptoms in TRD as compared to tDCS.
- 25 August 2023
- Published by MDPI AG in Psychiatry International
- Vol. 4 (3) , 246-254
Open AccessPredictors of Treatment Response in Patients with Treatment-Resistant Depression: Outcomes of a Randomized Trial
Objective: This report aims to compare the effectiveness between electroconvulsive therapy (ECT) and transcranial direct stimulation (tDCS) among patients with treatment-resistant depression (TRD) and the associated factors. Methods: This was a secondary data analysis of a randomized, controlled, open-label trial conducted from 1 July 2018, to 31 December 2018. The dataset of 90 patients included in the study was retrieved from Mendeley Data. Patients with TRD were randomized 1:1 into either receiving ECT or tDCS. A good treatment response was determined as an improvement from the Hamilton Depression (HAM-D) baseline score at a rate of more than or equal to 50% at the end of a 2-week intervention. A mixed-effect logistic regression was performed to explain the hierarchical data structure of predictors to successful treatment outcome. Results: The largest magnitude of change was consistently observed in the ECT treatment arm across both HAM-D score and the clinical global impression severity scale (CGI-S) scale (p < 0.001). Lower baseline HAM-D scores (OR: 0.72, 95% CI: 0.58, 0.92), lower baseline CGI-S scale (OR: 0.30, 95% CI: 0.17, 0.55), and ECT as the choice of treatment modality (OR: 14.0, 95% CI: 5.08, 38.58) independently predicted successful therapy among TRD patients, while modelling with multiple logistic regression determined that low socio-economic status (aOR: 20.01, 95% CI: 1.89, 211.47), ECT (aOR: 31.7, 95% CI: 6.32, 159.0) and a lower baseline CGI-S scale (aOR: 0.18, 95% CI: 0.06, 0.57) were significantly predictive of a positive treatment outcome among patients with TRD. Conclusions: ECT was more effective in alleviating depressive symptoms in TRD as compared to tDCS.
- Open Access
Recommended Interventions to Improve Human Papillomavirus Vaccination Uptake among Adolescents: A Review of Quality Improvement Methodologies
Background: Routine human papillomavirus (HPV) vaccine uptake continues to be suboptimal since its recommendation in 2006 for girls and in 2011 for boys. This paper aims to review published quality improvement (QI) methodologies on interventions to improve HPV vaccine uptake among adolescents. Methods: Science Direct and Scopus databases were searched for QI initiatives evaluating the effect of multimodal interventions to improve HPV vaccination rates (initiation and/or completion of series) among adolescents. Studies that included an outcome of interest among adolescents aged 10 to 18 years old were included. Two investigators worked independently to screen for potential articles and a designated investigator extracted data on study characteristics and evaluated the outcomes. Results: A preliminary search yielded a total of 523 articles and 13 were included in the final analysis. Common strategies were provider-specific (i.e., webinar, telementoring, train-the-trainer approach) and patient- and/or parent-specific interventions (i.e., reminder emails, phone calls and text messages, social events), with an emphasis on education and knowledge empowerment. System-level interventions such as policy changes and revised protocols were less commonly prescribed despite being associated with a more significant weight on the overall outcome. Conclusions: Creative, sustainable, and economical multilevel interventions that focus not only on provider training and public education but also incorporate local policies and system enhancements can substantially improve HPV vaccination coverage among adolescents.
Open AccessRecommended Interventions to Improve Human Papillomavirus Vaccination Uptake among Adolescents: A Review of Quality Improvement Methodologies
Background: Routine human papillomavirus (HPV) vaccine uptake continues to be suboptimal since its recommendation in 2006 for girls and in 2011 for boys. This paper aims to review published quality improvement (QI) methodologies on interventions to improve HPV vaccine uptake among adolescents. Methods: Science Direct and Scopus databases were searched for QI initiatives evaluating the effect of multimodal interventions to improve HPV vaccination rates (initiation and/or completion of series) among adolescents. Studies that included an outcome of interest among adolescents aged 10 to 18 years old were included. Two investigators worked independently to screen for potential articles and a designated investigator extracted data on study characteristics and evaluated the outcomes. Results: A preliminary search yielded a total of 523 articles and 13 were included in the final analysis. Common strategies were provider-specific (i.e., webinar, telementoring, train-the-trainer approach) and patient- and/or parent-specific interventions (i.e., reminder emails, phone calls and text messages, social events), with an emphasis on education and knowledge empowerment. System-level interventions such as policy changes and revised protocols were less commonly prescribed despite being associated with a more significant weight on the overall outcome. Conclusions: Creative, sustainable, and economical multilevel interventions that focus not only on provider training and public education but also incorporate local policies and system enhancements can substantially improve HPV vaccination coverage among adolescents.
- Open Access
- 5 June 2023
- Published by BMJ in BMJ Open Quality
- Vol. 12 (2) , e002139
Enhancing employment outcome among stable psychiatric patients: lesson learnt on innovative model of work inclusion
Background Poor employment rate among psychiatric patients is poorly discussed. Purpose To share our strategies in boosting employment rate among stable psychiatric patients and discuss the lessons learnt. Particular focus Multifaceted strategies were remodelled to ensure a three-dimensional optimisation: (1) strengthening clinical service to ensure stable disease and appropriate patient selection through battery of assessments, (2) provision of psychosocial support to boost self-esteem and foster discipline among patients through encouragement, guidance and regular monitoring by the multidisciplinary community mental health team and (3) encourage willingness and confidence among stakeholders and local market to host job opportunities to stable mental health patients. Overview The yearly employment rate among our stable psychiatric patients under supported employment programme from 2020 to 2021 was 28.6% (2/7) and 30.0% (3/10), respectively. A qualitative survey found the main hindrance to recruitment were employers’ scepticism on work performance, while poor work retention was due to patients’ lack of specific skill set and discipline to adhere to routine. We restructured our supported employment programme by adding the role of community mental health facility to foster discipline and routine for 6 months prior to referral to a job coach. Until June 2022, two out of five patients managed to secure job positions (40.0%). Despite our efforts to improve employment with the instituted remedial strategy, we still fail to reach the minimum standard set by ministry. Future plan will focus on tailoring individual interests to a specific set of skills that match industrial expectation prior to seeking employment. Additionally, enhancing public education using social media may foster better inclusion of psychiatric patients and social acceptance.
- 5 June 2023
- Published by BMJ in BMJ Open Quality
- Vol. 12 (2) , e002139
Open AccessEnhancing employment outcome among stable psychiatric patients: lesson learnt on innovative model of work inclusion
Background Poor employment rate among psychiatric patients is poorly discussed. Purpose To share our strategies in boosting employment rate among stable psychiatric patients and discuss the lessons learnt. Particular focus Multifaceted strategies were remodelled to ensure a three-dimensional optimisation: (1) strengthening clinical service to ensure stable disease and appropriate patient selection through battery of assessments, (2) provision of psychosocial support to boost self-esteem and foster discipline among patients through encouragement, guidance and regular monitoring by the multidisciplinary community mental health team and (3) encourage willingness and confidence among stakeholders and local market to host job opportunities to stable mental health patients. Overview The yearly employment rate among our stable psychiatric patients under supported employment programme from 2020 to 2021 was 28.6% (2/7) and 30.0% (3/10), respectively. A qualitative survey found the main hindrance to recruitment were employers’ scepticism on work performance, while poor work retention was due to patients’ lack of specific skill set and discipline to adhere to routine. We restructured our supported employment programme by adding the role of community mental health facility to foster discipline and routine for 6 months prior to referral to a job coach. Until June 2022, two out of five patients managed to secure job positions (40.0%). Despite our efforts to improve employment with the instituted remedial strategy, we still fail to reach the minimum standard set by ministry. Future plan will focus on tailoring individual interests to a specific set of skills that match industrial expectation prior to seeking employment. Additionally, enhancing public education using social media may foster better inclusion of psychiatric patients and social acceptance.
- Open Access
- 30 May 2023
- Published by MDPI AG in Preprints.org
Recommended Interventions to Improve Human Papillomavirus Vaccination Uptake among Adolescents: A Review of Quality Improvement Methodologies
Background: Routine human papillomavirus (HPV) vaccine uptake continues to be suboptimal since its recommendation in 2006 for girls and in 2011 for boys. This paper aims to review published quality improvement (QI) methodologies on interventions to improve HPV vaccine uptake among adolescents; Methods: Science Direct and Scopus databases were searched for QI initiatives evaluating the effect of multimodal interventions to improve HPV vaccination rates (initiation and/or completion of series) among adolescents. Studies that included an outcome of interest among adolescents aged 10 to 18 years old were included. Two investigators worked independently to screen for potential articles and a designated investigator extracted data on study characteristics and evaluated the outcomes; Results: Preliminary search yielded a total of 523 articles and 13 were included in the final analysis. Common strategies were provider-specific and patient- and/or parent-specific interventions, with an emphasis on education and knowledge empowerment. System-level interventions such as policy changes and revised protocol were less commonly prescribed despite being associated with more significant weight on the overall outcome; Conclusions: Creative, sustainable, and economical multilevel interventions that focus not only on provider training and public education but also incorporate local policy and system enhancement can substantially improve HPV vaccination coverage among adolescents.
- 30 May 2023
- Published by MDPI AG in Preprints.org
Open AccessRecommended Interventions to Improve Human Papillomavirus Vaccination Uptake among Adolescents: A Review of Quality Improvement Methodologies
Background: Routine human papillomavirus (HPV) vaccine uptake continues to be suboptimal since its recommendation in 2006 for girls and in 2011 for boys. This paper aims to review published quality improvement (QI) methodologies on interventions to improve HPV vaccine uptake among adolescents; Methods: Science Direct and Scopus databases were searched for QI initiatives evaluating the effect of multimodal interventions to improve HPV vaccination rates (initiation and/or completion of series) among adolescents. Studies that included an outcome of interest among adolescents aged 10 to 18 years old were included. Two investigators worked independently to screen for potential articles and a designated investigator extracted data on study characteristics and evaluated the outcomes; Results: Preliminary search yielded a total of 523 articles and 13 were included in the final analysis. Common strategies were provider-specific and patient- and/or parent-specific interventions, with an emphasis on education and knowledge empowerment. System-level interventions such as policy changes and revised protocol were less commonly prescribed despite being associated with more significant weight on the overall outcome; Conclusions: Creative, sustainable, and economical multilevel interventions that focus not only on provider training and public education but also incorporate local policy and system enhancement can substantially improve HPV vaccination coverage among adolescents.
- 1 May 2023
- Published by Bentham Science Publishers Ltd. in Current Drug Safety
- Vol. 18 (2) , 167-174
Side Effects of Chronic Methadone Use in Opioid Addiction: A Scoping Review on Hematological Derangements
Background: Per oral methadone maintenance therapy [MMT] was introduced as part of harm reduction strategy to manage rising numbers of HIV infections caused by intravenous use of illicit drugs. Method: We aim to review published articles related to the side effects of long-term methadone therapy, focusing on hematological derangements in human studies published between 1 January 2000 till 31 January 2021. Results: Our search databases include Web of Science, Scopus, and Medline. Our search yielded 971 articles, of which 55 articles were related to the effects of MMT on various organ systems: cardiovascular [n=12], respiratory [n=1], endocrine [n=10], central nervous system [n=12], neurobehavioral [n=10], gastrointestinal [n=1], and bone [n=1]. There were eight articles specifically related to the hematological side effects of chronic methadone therapy that include [i] immune system hyperactivation, [ii] reduced circulating lymphocytes, and [iii] increased blood viscosity. Conclusion: In view of all foreseeable health risks seen with prolonged methadone therapy, pharmacological modulation is warranted to find a better substitute for managing patients with opioid dependence.
- 1 May 2023
- Published by Bentham Science Publishers Ltd. in Current Drug Safety
- Vol. 18 (2) , 167-174
Side Effects of Chronic Methadone Use in Opioid Addiction: A Scoping Review on Hematological Derangements
Background: Per oral methadone maintenance therapy [MMT] was introduced as part of harm reduction strategy to manage rising numbers of HIV infections caused by intravenous use of illicit drugs. Method: We aim to review published articles related to the side effects of long-term methadone therapy, focusing on hematological derangements in human studies published between 1 January 2000 till 31 January 2021. Results: Our search databases include Web of Science, Scopus, and Medline. Our search yielded 971 articles, of which 55 articles were related to the effects of MMT on various organ systems: cardiovascular [n=12], respiratory [n=1], endocrine [n=10], central nervous system [n=12], neurobehavioral [n=10], gastrointestinal [n=1], and bone [n=1]. There were eight articles specifically related to the hematological side effects of chronic methadone therapy that include [i] immune system hyperactivation, [ii] reduced circulating lymphocytes, and [iii] increased blood viscosity. Conclusion: In view of all foreseeable health risks seen with prolonged methadone therapy, pharmacological modulation is warranted to find a better substitute for managing patients with opioid dependence.
- Open Access
- 15 April 2023
- Published by Biome Scientia Sdn Bhd in Life Sciences, Medicine and Biomedicine
- Vol. 7 (1)
Diagnostic pitfalls in neonatal hypertyrosinemia: a case report
Hypertyrosinemia results from abnormality in tyrosine metabolism. Acquired hypertyrosinemia is notably more common than inherited types and typically presents with profile suggestive of secondary aetiology on biochemical testing. Herein, we present an unusual case of a day 16-of-life baby girl who was screened for inborn errors of metabolism (IEM). She presented with jaundice, hypotonia, lethargy and had hepatomegaly on examination. She was treated for sepsis with multiorgan involvement, requiring escalation of intravenous antibiotics and assisted ventilation. Her dried blood spot (DBS) showed moderate elevation of tyrosine (408umol/L, N:10-182) with low Phe:Tyr ratio (0.15mmol/L, N:0.32-3.45). Plasma amino acid showed isolated hypertyrosinemia at 807mmol/L (N:5-167) with mild, non-significant elevations of other liver metabolites. No succinylacetone peak seen with urine organic acids, making the diagnosis of inherited Tyrosinemia type I less likely despite the characteristic findings from DBS, plasma amino acids, and presenting clinical signs. Repeated IEM screening two weeks later revealed a non-diagnostic profile across both DBS and plasma amino acids in light of resolving sepsis and clinical improvement. This case highlights the challenges associated with incompatible biochemical testing in a child with a high index of suspicion for inherited Tyrosinemia. In our case, repeated screening ruled out inherited Tyrosinemia, suggesting the initial picture of hypertyrosinemia to be likely due to liver dysfunction and impaired activity of liver enzymes that are responsible for tyrosine catabolism.
- 15 April 2023
- Published by Biome Scientia Sdn Bhd in Life Sciences, Medicine and Biomedicine
- Vol. 7 (1)
Open AccessDiagnostic pitfalls in neonatal hypertyrosinemia: a case report
Hypertyrosinemia results from abnormality in tyrosine metabolism. Acquired hypertyrosinemia is notably more common than inherited types and typically presents with profile suggestive of secondary aetiology on biochemical testing. Herein, we present an unusual case of a day 16-of-life baby girl who was screened for inborn errors of metabolism (IEM). She presented with jaundice, hypotonia, lethargy and had hepatomegaly on examination. She was treated for sepsis with multiorgan involvement, requiring escalation of intravenous antibiotics and assisted ventilation. Her dried blood spot (DBS) showed moderate elevation of tyrosine (408umol/L, N:10-182) with low Phe:Tyr ratio (0.15mmol/L, N:0.32-3.45). Plasma amino acid showed isolated hypertyrosinemia at 807mmol/L (N:5-167) with mild, non-significant elevations of other liver metabolites. No succinylacetone peak seen with urine organic acids, making the diagnosis of inherited Tyrosinemia type I less likely despite the characteristic findings from DBS, plasma amino acids, and presenting clinical signs. Repeated IEM screening two weeks later revealed a non-diagnostic profile across both DBS and plasma amino acids in light of resolving sepsis and clinical improvement. This case highlights the challenges associated with incompatible biochemical testing in a child with a high index of suspicion for inherited Tyrosinemia. In our case, repeated screening ruled out inherited Tyrosinemia, suggesting the initial picture of hypertyrosinemia to be likely due to liver dysfunction and impaired activity of liver enzymes that are responsible for tyrosine catabolism.
- Open Access
- 1 February 2023
- Published by Oxford University Press (OUP) in Oxford Medical Case Reports
- Vol. 2023 (2) , 83-85
Fatigue, bleeding tendency and osteoporosis in an adolescent: a diagnostic conundrum
Scurvy is a rare nutritional deficiency, particularly in developed nations. Sporadic cases are still reported, particularly among alcoholics and malnourished. Herein we present an unusual case of a previously healthy 15-year-old Caucasian girl, who was recently hospitalized for low velocity spine fractures, back pain and stiffness over several months and rash for 2 years. She was later diagnosed with scurvy and osteoporosis. Dietary modifications were instituted together with supplementary vitamin C, supportive treatment with regular dietician review and physiotherapy. Gradual clinical recovery was seen over the course of therapy. Our case highlights the importance of recognizing scurvy even among low-risk populations to ensure prompt and effective clinical management.
- 1 February 2023
- Published by Oxford University Press (OUP) in Oxford Medical Case Reports
- Vol. 2023 (2) , 83-85
Open AccessFatigue, bleeding tendency and osteoporosis in an adolescent: a diagnostic conundrum
Scurvy is a rare nutritional deficiency, particularly in developed nations. Sporadic cases are still reported, particularly among alcoholics and malnourished. Herein we present an unusual case of a previously healthy 15-year-old Caucasian girl, who was recently hospitalized for low velocity spine fractures, back pain and stiffness over several months and rash for 2 years. She was later diagnosed with scurvy and osteoporosis. Dietary modifications were instituted together with supplementary vitamin C, supportive treatment with regular dietician review and physiotherapy. Gradual clinical recovery was seen over the course of therapy. Our case highlights the importance of recognizing scurvy even among low-risk populations to ensure prompt and effective clinical management.