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Article ; Online: Clinical phenotype associated with variants in TANGO2: A case study.

Alghamdi, Fouad / Alharbi, Alanoud / Mohamed, Fatema / Alghamdi, Alaa / Bashir, Shahid

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie

2023 Volume 30, Issue 6, Page(s) 438–440

Abstract: Transport and Golgi organization 2 (TANGO2) disease is a severe inherited disorder that presents with multiple symptoms and a broad spectrum of phenotypes, including metabolic crisis, encephalopathy, cardiac arrhythmia, and hypothyroidism. The clinical ... ...

Abstract	Transport and Golgi organization 2 (TANGO2) disease is a severe inherited disorder that presents with multiple symptoms and a broad spectrum of phenotypes, including metabolic crisis, encephalopathy, cardiac arrhythmia, and hypothyroidism. The clinical picture of a TANGO2 gene biallelic mutation involves encephalopathy and rhabdomyolysis and is marked by cardiac rhythm disorders and neurological regression. The presentation of encephalopathy varies and can range from isolated language delay and cognitive impairment to multiple disabilities and spastic quadriparesis. A TANGO2 gene mutation causes serious illness with a limited life expectancy due to the unpredictable risk of cardiac rhythm disorder and death, particularly during rhabdomyolysis. Clinicians must therefore consider the TANGO2 gene when confronted with rhabdomyolysis in a patient suffering from an early developmental disorder. Currently, managing this disease is purely symptomatic. Here, we report the clinical features of a 10-year-old girl with mutations in the TANGO2 gene. Unique to our case was the lack of elevated creatine kinase during the early acute crises of cardiac failure and multi-organ failure, as well as the lack of any prior mental retardation associated with the aberrant heart rhythm.
MeSH term(s)	Humans ; Phenotype ; Brain Diseases ; Mutation ; Hypothyroidism/complications ; Rhabdomyolysis/diagnosis ; Rhabdomyolysis/genetics
Language	English
Publishing date	2023-06-30
Publishing country	France
Document type	Case Reports ; Journal Article
ZDB-ID	1181947-9
ISSN	1769-664X ; 0929-693X
ISSN (online)	1769-664X
ISSN	0929-693X
DOI	10.1016/j.arcped.2023.04.008
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Article ; Online: The impact of COVID-19 on patient engagement with primary healthcare: lessons from the saudi primary care setting.

Alghamdi, Alaa / Ramsay, Angus I G / Abrams, Ruth / Bailey, Julia V

BMC primary care

2023 Volume 24, Issue 1, Page(s) 177

Abstract: Background: There have been significant achievements in controlling COVID-19 in Saudi Arabia (SA), but as in most healthcare settings worldwide, health services have been seriously disrupted. Also, with pandemic control measures such as lockdowns and ... ...

Abstract	Background: There have been significant achievements in controlling COVID-19 in Saudi Arabia (SA), but as in most healthcare settings worldwide, health services have been seriously disrupted. Also, with pandemic control measures such as lockdowns and curfews, and innovations such as digital health services, the delivery of primary healthcare (PHC) services has dramatically changed. However, little is known about patients' experiences of PHCs during the pandemic, their views on the pandemic-related interventions in SA, and patient views on impact on their medical care. Methods: Qualitative semi-structured online interviews were conducted for twenty-four Saudi patients across SA aged 18 and above who were diverse in terms of age, gender, education and health status. Data were analysed using thematic analysis yielding four major themes as an impact of COVID-19 on patient engagement with PHCs. Results: The COVID-19 pandemic has had profound mixed impacts on patient engagement with PHC in SA. Fear of infection or of breaking lockdown rules has negatively impacted the utilisation of PHCs but positively changed patients' attitudes towards seeking medical help for self-limiting conditions. The pandemic has also negatively impacted routine preventive care at PHCs, especially for patients with long-term health conditions. The mandatory use of some digital health services in SA that existed pre-pandemic has provided patients with a perception of better care during the pandemic. Yet, a lack of awareness of optional digital health services, such as virtual clinics, hindered optimal use. Despite pandemic-related disruption of patient engagement with PHCs, the reduced waiting time in PHC centres and healthcare providers' communication and empathy during the pandemic contributed to patients' perceptions of better care compared to pre-pandemic. However, patients living outside the main cities in SA perceived care quality as less good during the pandemic compared to PHCs in the main cities in SA. Conclusion: The lessons learned from patients' experiences and views of PHCs during the pandemic were beneficial in promoting patient engagement with PHCs. The digital health services mandated in response to the pandemic have accelerated digital health innovation in SA and allowed patients to recognise the benefits of digital health. This has huge potential for increasing continuous patient engagement with PHCs. Yet, patients' experiences of digital health services during the pandemic are essential for informing appropriate implementation and utilisation of e-health services. Patients' positive experiences of PHCs during the pandemic, such as the reduction in waiting times and the perception of improved healthcare providers' professionalism, communication and empathy, can be built on to sustain engagement with PHC services. These findings might have significance for clinicians and policymakers to support patient engagement with PHCs, particularly in healthcare systems like SA that struggle with the overuse of emergency departments (EDs) for PHC-treatable conditions.
MeSH term(s)	Humans ; COVID-19/epidemiology ; Communicable Disease Control ; Pandemics/prevention & control ; Patient Participation ; Saudi Arabia/epidemiology ; Primary Health Care
Language	English
Publishing date	2023-09-06
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ISSN	2731-4553
ISSN (online)	2731-4553
DOI	10.1186/s12875-023-02131-4
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Article: A Study to Assess Prescription Transfer and Medicines Collection Through a New Electronic Prescription Service: A Cross-Sectional Survey.

Tobaiqy, Mansour / Ainousah, Bayan E / Alorfi, Nasser M / Alghamdi, Alaa / Alqutub, Sulafa Tarek

International journal of general medicine

2023 Volume 16, Page(s) 3689–3699

Abstract: Introduction: The introduction of electronic prescription services has been a significant development in healthcare systems worldwide. In Saudi Arabia, the Wasfaty electronic prescription service was recently introduced, aiming to streamline ... ...

Abstract	Introduction: The introduction of electronic prescription services has been a significant development in healthcare systems worldwide. In Saudi Arabia, the Wasfaty electronic prescription service was recently introduced, aiming to streamline prescription transfer and medicine collection. Aim: This study assesses the implementation of Wasfaty by investigating prescription transfer, patient satisfaction, and medicine availability among beneficiaries at the University of Jeddah. Methods: A cross-sectional online questionnaire was distributed to students and staff at the University of Jeddah who had received e-prescriptions from the University Medical Centre (n = 2067) in July-December 2022. The questionnaire consisted of three sections: demographics, patient perceptions and satisfaction with the Wasfaty service, and the availability of prescribed medicines. A total of 217 completed questionnaires were received and analyzed. Results: Among the respondents, a majority were female (n = 125, 57.6%). A significant proportion of participants expressed satisfaction with the initial registration process of the Wasfaty service (n = 183, 84.1%). However, a noteworthy finding was that nearly one-third of the participants reported difficulties in locating their prescribed medicines (n = 64, 29.7%). Consequently, a majority of these individuals had to seek alternative pharmacies to obtain their prescribed treatment (n = 138, 63.9%). Of concern were reports of limited access to specific pharmaceuticals, such as anti-hypertensives and antidiabetic medications, which elicited dissatisfaction among respondents. Conclusion: This study sheds light on the challenges associated with the implementation of the Wasfaty electronic prescription service in Saudi Arabia. While initial registration satisfaction is notable, the study highlights issues concerning medicine availability and access to essential pharmaceuticals. Addressing these challenges requires the attention of service providers, and further investigation on a national scale is warranted to better understand and address these issues effectively.
Language	English
Publishing date	2023-08-22
Publishing country	New Zealand
Document type	Journal Article
ZDB-ID	2452220-X
ISSN	1178-7074
ISSN	1178-7074
DOI	10.2147/IJGM.S432075
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Article ; Online: Causal explanations for patient engagement with primary care services in Saudi Arabia: a realist review protocol.

Alghamdi, Alaa / Abrams, Ruth / Bailey, Julia V / Alves, Paula / Park, Sophie

BMJ open

2022 Volume 12, Issue 4, Page(s) e055959

Abstract: Introduction: Saudi Arabia (SA) has a rapidly developing universal healthcare system which is maturing from its hospital focused origins. However, health service usage suggests that up to 65% of the cases seen in emergency departments were classified as ...

Abstract	Introduction: Saudi Arabia (SA) has a rapidly developing universal healthcare system which is maturing from its hospital focused origins. However, health service usage suggests that up to 65% of the cases seen in emergency departments were classified as non-urgent and could have been appropriately managed in primary healthcare (PHC) settings. Primary care development in SA has lagged behind secondary care, and evidence suggests that Saudi citizens are currently ambivalent or dissatisfied with their PHC services. Previous research has focused on the quality and patient satisfaction of PHC services in SA. Yet, uncertainty still exists about causal explanations for patient engagement with PHC services and what refinements are needed for PHC. Less attention has been paid to how patient engagement strategies might work differently, which is increasingly recognised as important in PHC services. The aim of this review is to understand the causal explanations for patient engagement with PHC and to generate theory of how the intended outcome of patient engagement with PHC in SA might be achieved through identified contexts and mechanisms. Methods and analysis: A realist review approach will be used to synthesise the evidence. Databases including Medline, EMBASE and CINAHL will be searched. Literature will be included if it has relevance to the research question, and is trustworthy in nature. All document types will be screened including peer reviewed articles, relevant grey literature and related media items. All study types will be included. Stakeholders' feedback will also inform our review. A realist approach is suitable for this review because patient engagement with PHC services is a complex phenomenon. A range of different relevant data will be included in the following stages: developing an initial programme theory, searching the evidence, selecting data, extracting data, synthesising data and refining the programme theory. Ethics and dissemination: This study will use secondary data, and stakeholders are involved only to shape our understanding of the important contexts in patient engagement; hence, a formal ethics review is not required. Findings will be disseminated in a peer-reviewed journal and at relevant conferences. Prospero registration number: CRD42020175955.
MeSH term(s)	Causality ; Humans ; Patient Participation ; Primary Health Care ; Research Design ; Review Literature as Topic ; Saudi Arabia
Language	English
Publishing date	2022-04-26
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2599832-8
ISSN	2044-6055 ; 2044-6055
ISSN (online)	2044-6055
ISSN	2044-6055
DOI	10.1136/bmjopen-2021-055959
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Article: Identifying Clinical and Genetic Characteristics of Spinal Muscular Atrophy Patients and Families in Saudi Arabia.

Alghamdi, Alaa / AlDossary, Shaikhah / Abdulaziz Alabdulqader, Wala / Amer, Fawzia / Ali, Mona / Almomen, Momen / Alghamdi, Fouad

Cureus

2023 Volume 15, Issue 10, Page(s) e46452

Abstract: Introduction: Spinal muscular atrophy (SMA) is an inherited, neuromuscular disease characterized by the deterioration of spinal motor neurons, causing progressive muscular atrophy and weakening. It is an autosomal recessive disease with the mutation of ...

Abstract	Introduction: Spinal muscular atrophy (SMA) is an inherited, neuromuscular disease characterized by the deterioration of spinal motor neurons, causing progressive muscular atrophy and weakening. It is an autosomal recessive disease with the mutation of the survival motor neuron 1 (SMN1) gene as a hallmark. Evidence suggests that the SMN2 gene modulates the severity of the disease. SMA is classified based on the maximum motor function achieved. This study aims to describe the genetic makeup and characteristics of an SMA cohort in the Kingdom of Saudi Arabia (KSA). Methods: Data from families presenting with SMA children was collected between January 2018 and December 2020. Blood samples were collected from patients and family members. Genetic testing for SMA and mutations was performed at a European central lab. Results and discussion: Seventeen families were enrolled in the study, including 52 children. Among 34 parents, 28 were carriers with heterozygous deletion (82.3%), one (2.9%) had no deletion detected by multiplex ligation-dependent probe amplification (MLPA) but had point mutation by sequencing, one (2.9%) had homozygous deletion and was symptomatic, three (8.8%) had no deletion or point mutation and were presumed to have 2+0, and one (2.9%) was not tested. Conclusion: This study provides insight into the carrier mutational analysis of families with SMA disease manifestations in KSA. Further studies are needed to understand the burden and impact of SMA among the Saudi population.
Language	English
Publishing date	2023-10-04
Publishing country	United States
Document type	Journal Article
ZDB-ID	2747273-5
ISSN	2168-8184
ISSN	2168-8184
DOI	10.7759/cureus.46452
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Article ; Online: Tacrolimus pharmacokinetics are influenced by CYP3A5, age, and concomitant fluconazole in pediatric kidney transplant patients.

Alghamdi, Alaa / Seay, Sarah / Hooper, David K / Varnell, Charles D / Darland, Leanna / Mizuno, Tomoyuki / Lazear, Danielle / Ramsey, Laura B

Clinical and translational science

2023 Volume 16, Issue 10, Page(s) 1768–1778

Abstract: Tacrolimus, the most common immunosuppressant for organ transplant, has a narrow therapeutic range and is metabolized by CYP3A4/5. Trough concentration monitoring and dosing adjustments are used to reach a therapeutic range. CYP3A5 intermediate and ... ...

Abstract	Tacrolimus, the most common immunosuppressant for organ transplant, has a narrow therapeutic range and is metabolized by CYP3A4/5. Trough concentration monitoring and dosing adjustments are used to reach a therapeutic range. CYP3A5 intermediate and normal metabolizers (1 allele carriers; IM/NM) demonstrate faster tacrolimus metabolism than poor metabolizers (PM). We analyzed the electronic health records of 93 patients aged <21 years for the first 8 weeks after a kidney transplant between January 2010 and December 2021. The target tacrolimus trough was 10-15 ng/mL in the first 4 weeks and 7-10 ng/mL in the next 4 weeks. Banked DNA was collected and genotyped for CYP3A53, 6, 7, and *8 alleles. We found that CYP3A5 IM/NM (n = 21) took longer than PM (n = 72) to reach the therapeutic range (7 vs. 4 days, p = 0.048). IM/NM had more dose adjustments (8 vs. 6, p = 0.025) and needed >150% of the required daily dose compared with PM. The concentration/dose ratio was influenced by age and concomitant fluconazole (p = 0.0003, p = 0.034, respectively) and the average daily dose decreases with age in CYP3A5 PM (p = 0.001). Tremors were more common in patients who ever had a trough concentration >15 ng/mL compared with those who never had a trough concentration >15 ng/mL (OR 3.31, 95% CI 1.03-8.98, p = 0.038). Using standard dosing, CYP3A5 IM/NM took longer to reach the goal range and require more dose adjustments and higher doses than PM. Preemptive genotyping could decrease the number of dose changes necessary to reach a therapeutic dose. We have implemented pre-transplant CYP3A5 testing at our institution.
MeSH term(s)	Humans ; Child ; Tacrolimus ; Cytochrome P-450 CYP3A/genetics ; Fluconazole ; Kidney Transplantation/adverse effects ; Immunosuppressive Agents ; Genotype ; Dose-Response Relationship, Drug ; Polymorphism, Single Nucleotide
Chemical Substances	Tacrolimus (WM0HAQ4WNM) ; Cytochrome P-450 CYP3A (EC 1.14.14.1) ; Fluconazole (8VZV102JFY) ; Immunosuppressive Agents ; CYP3A5 protein, human (EC 1.14.14.1)
Language	English
Publishing date	2023-06-26
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	2433157-0
ISSN	1752-8062 ; 1752-8054
ISSN (online)	1752-8062
ISSN	1752-8054
DOI	10.1111/cts.13571
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Article ; Online: Caries Risk Assessment Using the Caries Management by Risk Assessment (CAMBRA) Protocol among the General Population of Sakaka, Saudi Arabia-A Cross-Sectional Study.

Iqbal, Azhar / Khattak, Osama / Chaudhary, Farooq Ahmad / Onazi, Meshal Aber Al / Algarni, Hmoud Ali / AlSharari, Thani / Alshehri, Abdullah / Mustafa, Mohammed / Issrani, Rakhi / Alghamdi, Ebtehal Yanallah Mohamed / Alghamdi, Alaa Yahya Ali / Balubaid, Nojoud Omar Ahmad

International journal of environmental research and public health

2022 Volume 19, Issue 3

Abstract: ... ...

Abstract	Background
MeSH term(s)	Cross-Sectional Studies ; Dental Caries/epidemiology ; Dental Caries Susceptibility ; Female ; Humans ; Male ; Risk Assessment/methods ; Risk Factors ; Saudi Arabia/epidemiology
Language	English
Publishing date	2022-01-22
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2175195-X
ISSN	1660-4601 ; 1661-7827
ISSN (online)	1660-4601
ISSN	1661-7827
DOI	10.3390/ijerph19031215
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Article: The clinical outcome of HIV infection at a tertiary care center in Riyadh, Saudi Arabia.

Baadani, Abeer M / Ballool, Sulafa / Alhemyadi, Salwa / Sallam, Lina / ALsufyani, Eid / Alghamdi, Alaa / Alfahad, Wafaa

Saudi medical journal

2020 Volume 41, Issue 9, Page(s) 965–970

Abstract: Objectives: To investigate clinical characteristics and the outcome of people living with HIV (PLWHIV) at tertiary care center in Riyadh, Saudi Arabia. Methods: The present retrospective, observational study was carried between 2000-2019 at Prince ... ...

Abstract	Objectives: To investigate clinical characteristics and the outcome of people living with HIV (PLWHIV) at tertiary care center in Riyadh, Saudi Arabia. Methods: The present retrospective, observational study was carried between 2000-2019 at Prince Sultan Military Medical City (PSMMC), Riyadh, Saudi Arabia. The demographic and clinical characteristics of 137 PLWHIV patients were collected by reviewing the medical data record. Results: Of the total 137 PLWHIV, 78.8% were male and 21.2% were female. At care entry, the most opportunistic infections found were the cytomegalovirus infections. cytomegalovirus (CMV) infections in 13.8% of patients, tuberculosis (8%), AIDS associated malignancy (10.9%), hepatitis B (5.8%), NTM (3.6%), hepatitis C (2.2%). In the present study, more than half of the patients received integrase based combination therapy. The highest number (n=20) of patients were diagnosed in 2018. Conclusions: Our findings describe the clinical characteristics and outcomes of PLWHIV at a major tertiary referral hospital in Saudi Arabia. The non AIDS related disease is the major cause of death in HIV infected patients. Early diagnosis and initiation of antiretroviral therapy resulted in a significant decrease in morbidity and mortality.
MeSH term(s)	AIDS-Related Opportunistic Infections/complications ; AIDS-Related Opportunistic Infections/epidemiology ; Adolescent ; Adult ; Aged ; Aged, 80 and over ; Cohort Studies ; Cytomegalovirus Infections/complications ; Cytomegalovirus Infections/epidemiology ; Female ; HIV Infections/complications ; HIV Infections/drug therapy ; HIV Infections/epidemiology ; Humans ; Male ; Middle Aged ; Retrospective Studies ; Saudi Arabia/epidemiology ; Tertiary Care Centers ; Treatment Outcome ; Young Adult
Language	English
Publishing date	2020-08-13
Publishing country	Saudi Arabia
Document type	Journal Article
ZDB-ID	392302-2
ISSN	1658-3175 ; 0379-5284
ISSN (online)	1658-3175
ISSN	0379-5284
DOI	10.15537/smj.2020.9.25274
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Article ; Online: Comorbidities in Patients with COVID-19 and Their Impact on the Severity of the Disease

Bashir, Shahid / Moneeba, Sadaf / Alghamdi, Alaa / Alghamdi, Fouad / Niaz, Asim / Anan, Hadeel / Kaleem, Imdad

Journal of Health and Allied Sciences NU ; ISSN 2582-4287 2582-4953

2020

Abstract: Abstract Infection with COVID-19 is associated with significant morbidity, especially in patients with chronic medical conditions. At least one-fifth of cases require supportive care in intensive care units, which have limited availability in most ... ...

Abstract	Abstract Infection with COVID-19 is associated with significant morbidity, especially in patients with chronic medical conditions. At least one-fifth of cases require supportive care in intensive care units, which have limited availability in most developing countries. A literature search was conducted on PubMed, Medline, Scopus, Embase, and Google Scholar to find articles published by May 7, 2020 on the role of comorbidities in patients with COVID-19 and the impact of comorbidities on the disease. This review highlighted that patients with comorbidities are more likely to experience severe disease than those with no other conditions; that is, comorbidities correlated with greater disease severity in patients with COVID-19. Proper screening of COVID-19 patients should include careful inquiries into their medical history; this will help healthcare providers identify patients who are more likely to develop serious disease or experience adverse outcomes. Better protection should also be given to patients with COVID-19 and comorbidities upon confirmation of the diagnosis. This literature review showed that the comorbidities most often associated with more severe cases of COVID-19 are hypertension, cardiovascular disease, and diabetes. Individuals with these comorbidities should adopt restrictive measures to prevent exposure to COVID-19, given their higher risk of severe disease.
Keywords	covid19
Language	English
Publisher	Georg Thieme Verlag KG
Publishing country	de
Document type	Article ; Online
DOI	10.1055/s-0040-1718848
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article: Comorbidities in Patients with COVID-19 and Their Impact on the Severity of the Disease

Bashir, Shahid / Moneeba, Sadaf / Alghamdi, Alaa / Alghamdi, Fouad / Niaz, Asim / Anan, Hadeel / Kaleem, Imdad

Journal of Health and Allied Sciences NU

2020 Volume 11, Issue 01, Page(s) 1–7

Abstract: Infection with COVID-19 is associated with significant morbidity, especially in patients with chronic medical conditions. At least one-fifth of cases require supportive care in intensive care units, which have limited availability in most developing ... ...

Abstract	Infection with COVID-19 is associated with significant morbidity, especially in patients with chronic medical conditions. At least one-fifth of cases require supportive care in intensive care units, which have limited availability in most developing countries. A literature search was conducted on PubMed, Medline, Scopus, Embase, and Google Scholar to find articles published by May 7, 2020 on the role of comorbidities in patients with COVID-19 and the impact of comorbidities on the disease. This review highlighted that patients with comorbidities are more likely to experience severe disease than those with no other conditions; that is, comorbidities correlated with greater disease severity in patients with COVID-19. Proper screening of COVID-19 patients should include careful inquiries into their medical history; this will help healthcare providers identify patients who are more likely to develop serious disease or experience adverse outcomes. Better protection should also be given to patients with COVID-19 and comorbidities upon confirmation of the diagnosis. This literature review showed that the comorbidities most often associated with more severe cases of COVID-19 are hypertension, cardiovascular disease, and diabetes. Individuals with these comorbidities should adopt restrictive measures to prevent exposure to COVID-19, given their higher risk of severe disease.
Keywords	COVID-19 ; morbidity ; comorbidities ; pandemic
Language	English
Publishing date	2020-10-16
Publisher	Thieme Medical and Scientific Publishers Pvt. Ltd.
Publishing place	Stuttgart ; New York
Document type	Article
ISSN	2582-4953 ; 2582-4287
ISSN (online)	2582-4953
ISSN	2582-4287
DOI	10.1055/s-0040-1718848
Database	Thieme publisher's database

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