INTRODUCTIONRecommended by the National Advisory Council of the Disabled, the Ministry of Health of Singapore supported a nationwide study of inherited metabolic disorders (IMDs). When the 5-year project ended, investigations were provided as a diagnostic service. This paper documents our 13-year experience.

MATERIALS AND METHODSPatients with symptoms suggestive of an IMD were referred. Investigations on heparinised blood and/or urine included amino acid analysis using a Beckman 6300 Amino Acid Analyser, organic acids analysis using a Hewlett- Packard gas chromatography and mass spectrometry, mucopolysaccharides quantitative assay and high-resolution electrophoresis, sugars by thin-layer chromatography.

RESULTSOf the 3656 patients studied from 1992 to 2005, IMDs were found in 127 (77 males; 50 females; age range, 1 day to 56 years). Their ethnic distribution was: 55.1% Chinese, 19.7% Malays, 11.0% Indians, 11.0% other races and 3.2% unknown. IMD diagnosed comprised 41 (32.3%) organic acidurias, 34 (26.8%) amino acidaemias/acidurias, 14 (11.0%) urea cycle defects, 15 (11.8%) mucopolysaccharidoses, 6 (4.7%) carbohydrate disorders and 17 (13.4%) others. Twenty-three (18.1%) cases were diagnosed during the neonatal period and 36 (28.3%) after the age of 13.

CONCLUSIONPositive detection rate was 3.5% and 48 IMDs were found. Significant proportion of cases had late-onset IMDs. Early identification of IMDs permits timely management, genetic counselling and prenatal diagnosis.

Adolescent ; Adult ; Amino Acids ; metabolism ; Biomarkers ; blood ; cerebrospinal fluid ; urine ; Carbohydrates ; blood ; Child ; Child, Preschool ; Chromatography, Gas ; Female ; Follow-Up Studies ; Glycosaminoglycans ; metabolism ; Humans ; Infant ; Infant, Newborn ; Male ; Mass Spectrometry ; Metabolism, Inborn Errors ; epidemiology ; metabolism ; Middle Aged ; Prevalence ; Prognosis ; Retrospective Studies ; Singapore ; epidemiology ; Urea ; metabolism

INTRODUCTIONThis paper shows the importance and value of external proficiency testing programmes in monitoring and improving a laboratory's diagnostic skills. It reviews and documents the wide variety of inherited metabolic disorders (IMDs) encountered in the programmes organised by the Human Genetics Society of Australasia and the College of American Pathologists.

MATERIALS AND METHODSThe programmes used actual patient specimens to assess a laboratory's ability to provide diagnoses based on laboratory tests results and brief clinical information. Participating laboratory was also required to suggest additional test(s) to confirm diagnoses.

RESULTSThe results of diagnoses on 116 samples were reviewed. Altogether 49 IMDs were encountered, including 26 organic acidurias, 16 aminoacidurias, 3 urea cycle defects, 5 mucopolysaccharidoses, and 1 each of mucolipidosis and purine disorder. Our report for 21 of the 116 samples (18.1%) deviated from the actual diagnoses. Deviations from the final diagnoses were recorded along with the reasons for them. The main reasons for the deviations were: the lack of standards for recognising metabolites of pathognomonic significance, absence of characteristic metabolites in samples collected during treatment, the presence of misleading unusual metabolites, inadequate clinical information, and inability to perform additional tests due to insufficient specimens.

CONCLUSIONSThe programmes provided a wide variety of IMDs, some of which we have yet to encounter in our patients. They also enabled us to learn about the varied biochemical manifestations at different stages of disease and the identity of previously unidentified metabolites. They enhanced our knowledge and experience and improved our diagnostic skills.

Australia ; Humans ; Laboratories ; standards ; Metabolism, Inborn Errors ; diagnosis ; New Zealand ; Pathology, Clinical ; standards ; Professional Competence ; Program Evaluation ; Quality Assurance, Health Care ; Quality Control ; Specimen Handling ; standards

BACKGROUND AND OBJECTIVE

Inequity in access to healthcare continues to be a problem in the Philippines. This was further aggravated by the COVID-19 pandemic. Telemedicine is considered a potential strategy to address inequitable access to healthcare; however, it only gained popularity during the pandemic. This study aims to determine the pediatric conditions diagnosed through telemedicine consults and the platforms utilized by patients in the Philippine Primary Care Studies pilot sites during the pandemic.

METHODS

This is a cross-sectional study of pediatric patients below 19 years of age who sought consult using telemedicine. Using the electronic medical records (EMR) system adapted by the Philippine Primary Care Studies in UP Health Service (UPHS) Quezon City, Metro Manila (urban site), Samal, Bataan (rural site), and Bulusan, Sorsogon (remote site), pediatric conditions diagnosed through telemedicine consults and the platforms utilized by patients from September 2021 to August 2022 were extracted and summarized. Data was summarized using descriptive statistics.

RESULTS

A total of 5,388 consults involving pediatric patients were recorded from September 2021 to August 2022, of which 1,562 (29.0%) were done through telemedicine. Majority of the telemedicine consults (67.5%, n=1,055) were in the rural site. There were 274 telemedicine consults (17.6%) in the remote site, and 233 (14.9%) in the urban site. The most common diagnosis was acute upper respiratory tract infection (30.8%). Other common conditions diagnosed through telemedicine were lower respiratory tract infections, skin infections, urinary tract infections, obesity, anxiety disorders, allergic rhinitis, conditions related to pregnancy, and myalgia. The most common platforms used by patients are video calls (20.2%, n=315) and voice calls (18.4%, n=287) across all three sites. However, the most common platform differed per area—video calls for the urban site (85.8%), live chat for the rural site (76.1%), and voice calls for the remote site (60.6%).

CONCLUSION

The most common condition diagnosed among pediatric patients consulting through telemedicine is upper respiratory tract infection. The most common platforms used to seek consult through telemedicine are live chat, video calls, and voice calls, with differences noted per site.

Telemedicine ; Primary Health Care

BACKGROUND

Primary care for pediatric patients focuses on providing comprehensive, accessible, and coordinated healthcare from the neonatal period to adolescence. The implementation and use of electronic medical records (EMR) in pediatric primary care facilities is an efficient strategy to gather necessary information on the epidemiology of common pediatric diseases in the Philippines.

OBJECTIVES

This study aimed to determine the frequency distribution of pediatric diseases in a rural primary healthcare facility in the Philippines.

METHODS

This cross-sectional study reviewed the EMR of all pediatric patients who consulted in a primary care facility in Samal, Bataan from April 2019 to March 2021. Data gathered include sex, age in years, chief complaint, diagnosis, and month of consultation. Data was summarized using descriptive statistics.

RESULTS

A total of 14,462 pediatric consults were recorded from April 2019 to March 2021. There were slightly more male patients (52.1%). The mean age of the patients was 6.5 years (standard deviation 5.22). The highest number of consults came from the 1- to 4-year-old age group (41.5%). The most common chief complaints were cough (45.9%), fever (25.5%), and colds (24.9%). The most frequent diagnoses were upper respiratory tract infections (47.4%), followed by lower respiratory tract infections (6.9%), and skin and soft tissue infections (5.3%). Majority of the consults for respiratory tract infections, skin and soft tissue infections, gastroenteritis, asthma, and dermatitis were in the 1- to 4-year-old age group. Urinary tract infections and otitis media or externa were recorded more frequently in the 5- to 9-year-old age group.

CONCLUSIONS

Respiratory tract infections, followed by skin and soft tissue infections, were the most frequently identified diseases in children consulting a primary care facility at a rural site in the Philippines. The most common chief complaints, defined as the primary reason for seeking consult, were cough, fever, and colds. Data was gathered through EMR review, which may aid in the planning of programs and policies to improve primary care service delivery.

Electronic Health Records ; Electronic Medical Record

Introduction: Atopic dermatitis (AD) is a complex disease with an interplay of genetic and environmental factors. In the United States, AD affects 10.7% of children andyc 7.2% of adults. Similarly in the Philippines, the prevalence of AD is 12.7% in the under 18 population, and 2% in the over 18 population. While AD affects all ages, the burden of the disease is greater in the pediatric population. The pathogenesis of AD is multifactorial. Variations in genes responsible for epidermal barrier function, keratinocyte terminal differentiation, and the innate and adaptive immune responses have been linked to AD. A null mutation involving the filaggrin gene is the strongest known risk factor for AD. This mutation results in a loss of filaggrin (FLG) protein by at least 50%. Filaggrin breakdown products form part of the natural moisturizing factor (NMF) of the skin, which is essential in skin hydration. A decrease in NMF and an increase in transepidermal water loss (TEWL) are observed in AD patients with FLG mutation. The defective barrier in AD patients decreases skin defenses against irritation and allergen penetration. Exposure to certain environmental chemicals like formaldehyde may worsen this barrier. This may lead to increased skin permeability to aeroallergens that leads to dermatitis in sensitized patients. Barrier defects may also play a role in epicutaneous sensitization and the subsequent development of other atopic conditions, such as bronchial asthma and allergic rhinitis. The Philippine Dermatological Society (PDS) consensus on AD aims to provide a comprehensive guideline and evidence-based recommendations in the management of this condition, with consideration of cultural factors that are often encountered in the Philippine setting. These guidelines are intended to provide practitioners with an overview of the holistic approach in the management of AD, ameliorating the negative effects of the disease and improving overall quality of life.. Methodology: A group of 21 board-certified dermatologists from the Philippine Dermatological Society (PDS) convened to discuss aspects in the clinical management of AD. Database and literature search included the full-text articles of observational studies, randomized controlled clinical trials, and observational studies using the Cochrane library, PubMed, Hardin (for Philippine based studies) as well as data from the PDS health information system. The terms used in combinations from the literature included “atopic dermatitis”, “atopic eczema”, “emollients”, “topical corticosteroids”, “topical calcineurin inhibitors”, “anti-histamines” and “phototherapy”. A total of fifty (50) full text articles were reviewed and found applicable for the scope of the study. Articles were assessed using the modified Jadad scale, with score interpretations as follows: (5- excellent, 3- good, 1– poor). Consensus guidelines for AD from within and outside of the region were also reviewed, from the 2013 Asia-Pacific guidelines, 2014 Taiwanese Dermatological Association consensus, 2016 guidelines in the management of AD in Singapore, 2014 American Academy of Dermatology guidelines, and the 2020 Japanese guidelines for AD. From the literature review, proposed consensus statements were developed, and a Delphi survey was conducted over two separate virtual meetings. Individual dermatologists provided Likert Scoring (1- strongly disagree to 5- strongly agree) based on consensus statements. A consensus was deemed reached at mean scores of > 4.00, a near consensus at > 3.5, and no consensus at <3.5. Summary: AD is a chronic relapsing condition with a significant burden of disease, most commonly affecting the pediatric population. The PDS AD Consensus Guidelines summarizes the standards of therapy and the therapeutic ladder in the management of AD based on published clinical trials and literature review. While these modalities remain the cornerstone of therapy, an individualized approach is the key to the holistic management of an AD patient. Knowledge and awareness of frequently associated conditions, whether in the realm of food allergies, contact allergies, or secondary infections, is paramount. In addition to the standard therapeutic armamentarium, the physician must also consider cultural practices and be knowledgeable of alternative therapeutic options. Referral to a specialist is recommended for recalcitrant cases of AD, or when initiation of systemic immunosuppressive agents, phototherapy, or biologic agents is contemplated.