Background: With the increasing coverage of the newborn screening (NBS) program in the Philippines, the number of patients being followed-up has also been increasing. The NBS continuity clinics (NBSCCs) have continuously been creating strategies to improve long-term patient health outcomes. Objective: This paper aimed to describe the establishment of a community-based networking system of satellite clinics. Methodology: A document review of resources including powerpoint presentations, a local ordinance, Newborn Screening Reference Center database of statistics of the NBSCCs from 2015 to 2021 and a Department of Health - Center for Health Development memorandum was done. Results: NBS satellite clinics were developed as a strategy for improving the tracking and long-term follow-up of patients confirmed for one of the conditions in the NBS panel. Satellite clinics offering long-term follow-up services were set up in hospitals strategically located in the provinces of the Western Visayas, especially in areas with a high number of patients. Capacity building activities were initiated among the established NBS satellite clinic core teams which were composed of doctors, nurses, and/or midwives. A total of 15 satellite clinics spread out across the six provinces of Western Visayas were established in 2017. By the end of 2020, the Western Visayas region had a total of 528 confirmed patients endorsed by the Newborn Screening Center Visayas (NSC V) and the recall rate increased from 62.77 % in 2015 to 87.79 % in 2020. Conclusion The establishment of satellite clinics provided a region-wide accessibility and availability of longterm follow-up services to the patients as seen by the increase in the patient recall rate. The benefits were seen especially during the implementation of strict border controls due to the pandemic which ensured the continuity of care of the patients in the region. This concept can serve as a model for other NBSCCs in the archipelago and for other regions across the Philippines.
Neonatal Screening

BACKGROUND: The School of Health Sciences (SHS), University of the Philippines Manila, established in 1976 offers a one-of-its kind ladder-type, community-based curriculum in health sciences.

OBJECTIVE: This study described the SHS curriculum and how it contributed to the transformative scale-up of the education of health professionals in the Philippines.

METHODS: This study is a concurrent transformative mixed method design. Data were collected concurrently through interviews of university officials, faculty, students, alumni, communities, and partners as well as observations of review classes and office activities. Quantitative data were collected from school records and performance ratings of students. From the data emerged the basic principles of primary health care and community-based education and they were juxtaposed to describe transformative learning of SHS students and faculty.

RESULTS: All of the 3,481 students admitted from 1976 came from geographically isolated and depressed areas; more than 95% of the graduates are still in the country and chose to serve the communities. The school's ladder-type, community-based curriculum produced competent midwives, nurses, and physicians. SHS did not just transform its students but also the faculty, communities, its partner local, national, and international agencies, and changed the landscape of community-based education in the region.

CONCLUSION: SHS produced health professionals who chose to serve the communities. It continues to evolve to institutionalize primary health care and community-based education.

BACKGROUND: Republic Act 9288 or the Newborn Screening Act of 2004 was enacted. A multi-sector effort towards systematic screening of newborn disorders and built-in systems for subsequent confirmatory tests for positively screened as well as treatment for confirmed cases was likewise implemented. Despite multi-sector efforts and continuous quality improvement mechanisms, national newborn screening coverage remained low for several years.

OBJECTIVE: The study determined factors that influence Newborn Screening (NBS) uptake from various perspectives: mothers, health providers, and program administrators.

METHODS: Framework analysis of NBS program documents, 25 focus group discussions and 37 key informant interviews of mothers, health providers and program administrators were done in purposively selected communities in the Cordillera Administrative Region and Region V.

RESULTS AND CONCLUSIONS: Findings showed the need to disseminate correct NBS procedures, especially upon obtaining positive results. Financing issues were addressed innovatively, but system administrators and health providers required a common understanding of program implementation. Monitoring geographically hard-to-reach areas remained a challenge. Barriers outside the system adversely affected filter cards availability, specimen transport, and release of results. Improved online and paper-based educational campaign, greater local government unit support, streamlined PhilHealth processes, a workload-based manpower complement for monitoring, and continuity clinics to handle positive findings can increase NBS uptake.

Objectives: The highly polymorphic nature of the CYP2D6 gene and its central role in the metabolism of commonly used drugs make it an ideal candidate for pharmacogenetic screening. This study aims to determine the prevalence of CYP2D6 polymorphisms among Filipinos and their association to lung cancer. Method: Forty seven single nucleotide polymorphisms (SNPs) of the CYP2D6 gene were genotyped from DNA samples of 115 cases with lung cancer and age- and sex-matched 115 controls. Results: Results show that 18 out of 47 polymorphisms have significant genotypic variability (>1% for at least 2 genotypes). No variant is associated with lung cancer. However, rs1135840, rs16947 and rs28360521, were found to be highly variable among Filipinos. Conclusion This study demonstrated that CYP2D6 polymorphisms are present among Filipinos, which, although not found to be associated with lung cancer, can be useful biomarkers for future pharmacogenetic studies. The SNP rs16947 is found to be associated with cancer and timolol-induced bradycardia; the SNP rs1135840, on the other hand, is only shown to be linked with cancer. The genetic variant rs28360521 is known to be associated with low-dose aspirin-induced lower gastrointestinal bleeding.
Pharmacogenetics ; Cytochrome P-450 CYP2D6 ; Lung Neoplasms ; Biomarkers

Objectives. Polymorphisms in metabolic genes which alter rates of bioactivation and detoxification have been shown to modulate susceptibility to colorectal cancer. This study sought to evaluate the colorectal cancer risk from environmental factors and to do polymorphism studies on genes that code for Phase I and II xenobiotic metabolic enzymes among Filipino colorectal cancer patients and matched controls. Methods. A total of 224 colorectal cancer cases and 276 controls from the Filipino population were genotyped for selected polymorphisms in GSTM1, GSTP1, GSTT1, NAT1 and NAT2. Medical and diet histories, occupational exposure and demographic data were also collected for all subject participants.Results. Univariate logistic regression of non-genetic factors identified exposure to UV (sunlight) (OR 1.99, 95% CI: 1.16-3.39) and wood dust (OR 2.66, 95% CI: 1.21-5.83) and moldy food exposure (OR 1.61, 95% CI:1.11-2.35) as risk factors; while the NAT2*6B allele (recessive model OR 1.51, 95% CI :1.06-2.16; dominant model OR 1.87, 95% CI: 1.05-3.33) and homozygous genotype (OR 2.19, 95% CI: 1.19-4.03) were found to be significant among the genetic factors. After multivariate logistic regression of both environmental and genetic factors, only UV radiation exposure (OR 2.08, 95% CI: 1.21-3.58) and wood dust exposure (OR 2.08, 95% CI: 0.95-5.30) remained to be significantly associated with increasing colorectal cancer risk in the study population.Conclusion. This study demonstrated that UV sunlight and wood dust exposure play a greater role in influencing colorectal cancer susceptibility than genotype status from genetic polymorphisms of the GST and the NAT` genes.
Colorectal Neoplasms ; Polymorphism, Genetic

In the Philippines, there is an urgent need to expand the clinical services for diagnosis, management and emotional support for patients with genetic conditions and their family members. Despite the lack of trained providers with specialization in genetics, public health related geneticsprograms are continuously being implemented. These address these current demands,strategic planning began in 2009 between local medical geneticists and international genetic professionals to develop the curriculum for an advanced degree in genetic counseling program. The board of regents at the University of the Philippines approved the proposed curriculum in January 2011, and training of the Philippines first cohort of genetic counseling students commenced in June 2011. The successful implementation of the MS of Genetic Counseling program will provide the opportunity to incorporate the match needed genetic counseling services in the country.
Human ; Male ; Female ; GENETIC COUNSELING ; GENETIC SERVICES ; HEALTH SERVICES

Congenital anomalies have been in the top ten causes of infant mortality in the Philippines for the past 50 years. Since there is no synthetic surveillance for the congenital anomalies in our country, there are no specific programs directed toward better understanding of this group of patients. The birth defects surveillance project was convinced in 008 to develop a system of reporting of newborns with birth defects at the hospital and community setting. The lead agencies for this project are the University of the Philippines Manila-National Institutes of Health and the department of Health (DOH). This paper describes the establishment of the Philippine Birth Defects Surveillance.
Human ; Male ; Female ; CONGENITAL ABNORMALITIES ; CONGENITAL, HEREDITARY, AND NEONATAL DISEASES AND ABNORMALITIES ; EPIDEMIOLOGY

Introduction. Birth defects are global problem with impact particularly severe in middle - to low -income countries. In the Philippines, there is a limited data on birth defects despite the fact that congenital anomalies have been in the top 10 causes of infant mortality. The objectives of the study were: 1.) to determine the occurrence of birth defects among patients admitted to the Philippine General Hospital (PGH); 2.) To present the distribution of patients by geographic location and age group distribution; 3.) To categorize birth defects by organ systems; and 4.) To categorize birth defects as either isolated, part of a recognizable syndrome, chromosomal syndrome of multi-malformed case. Methods. Patients admitted to PGH from 2001-2010 and to have major structural defects were included in this study. Case ascertainment was done through a review of medical records of all admitted patients age 0 to more than 65 years old. Patients with birth defects was assigned codes of International Classification of Diseases (ICD)-10 classification. Results. Of the 438,944 admissions to the PGH from 2001 to 2010, there were 8,686 (2.0%) patients with a diagnosis of at least one (1) birth defect. The most common birth defects are as follows: digestive system (3,605/8,686 or 41.5%), cardiovascular system (,839/8,686 or 32.7%), nervous system (1,070/8,686 or .3%) and genital organ anomalies (755/8,686 or 8.7%). The common digestive system anomalies were cleft lip and /or palate (1,548/8,686 or 17.8%), imperforate anus (698/8,686 or 8%) and hirschsprung disease (582/8,686 or 6.7%). Most of the cardiovascular system anomalies were congenital malformations of the cardiac septa (1,160/8,686 or 13.4%) and the great arteries (769/8,686 or 8.9%), while almost of the nervous system anomalies were due to congenital hydrocephalus (347/8,686 or 4%), encephalocoele (303/8,686 or 3.5%) and spina bifida (193/8,686 or 2.%) The most common genital organ anomalies were hypospadias (340/8,686 or 3.9%) and undescended testicle (233/8,686 or 2.7%) Majority (4,042/8,686 or 46.5%) of birth defect cases came from the National Capital Region (NCR) while 32.5% (or 2,87/8.686) of the cases came from region IV-A or Cavite, Laguna, Batangas , Rizal and Quezon (CALABARZON) Region. Conclusion. The results of this study show that the most common birth defects are digestive, cardiovascular, nervous system, and genital organ anomalies. This trend is similar to those reported internationally. The findings of the study can be the basis of policies toward the development and implementation of practical strategies for primary and secondary prevention of birth defects among Filipinos.
Human ; Male ; Female ; CONGENITAL ABNORMALITIES ; CONGENITAL, HEREDITARY, AND NEONATAL DISEASES AND ABNORMALITIES ; ABNORMALITIES ; EPIDEMIOLOGY

Objective. To present preliminary data on the effects of intravenous pamidronate in children with moderate to severe Osteogenesis Imperfecta (OI). Methods. This is a restrospective study wherein a review of medical records and available serial radiographs of children (N=14) with moderate to severe IO started on pamidronate from 2006 to 2010 was done. Results. Two children have IO Type I, 8 have IO Type III and 4 have IO Type IV. At baseline, 2 had normal height, 8 had height less than minus 2SD and the rest with less than minus 1SD. Twelve out of 14 had vertebral compression fractures. Mean age at start of pamidronate was 5.4 years (range 0.5-11 years). First infusion fever in five patients and transient generalized macular rash in one child were noted. Serum calcium and phosphorus levels were normal at baseline and remained stable. Based on parental report, improvement of motor function was noted. In the 10 children who had at least a year of treatment, long bone fractures decreased from mean annualized fracture rate of 2.6 at baseline to 0.9. In patients with vertebral compression fractures, serial radiographs showed improvement of vertebral shape. Conclusion. This preliminary study shows that treatment was generally well tolerated and led to decrease in long bone fractures, improved vertebral shape and improved function.
Human ; Male ; Female ; Child ; Child Preschool ; PAMIDRONATE ; OSTEOGENESIS IMPERFECTA ; MUSCULOSKELETAL DISEASES ; BONE DISEASES ; BONE DISEASES, DEVELOPMENTAL ; BONE DISEASES, METABOLIC ; OSTEOCHONDRODYSPLASIAS ; THERAPEUTICS ; THERAPY ; OSTEOPOROSIS

Background. Newborn screening for congenital hypothyroidism (CH) in the Philippines was introduced in 1996. It is universally accepted that early detection through newborn screening and timely treatment can improve the physical and neuro-cognitive development of patients. As of December 2010, the prevalence of CH is 1 in 3,324 among 2,389,959 newborns screened. Objective. We sought to evaluate the role of timing of diagnosis, compliance with treatment, and specialist care on growth and development (mental and physical) of patients with congenital hypothyroidism detected through newborn screening. Methods. Of the 326 patients identified through newborn screening between July 1996-December 2008 at the Newborn Screening Center-National Institutes of Health, 86 patients participated in the study. With the parents' or guardians' consent, general physical examination and neuro-cognitive evaluation were done; FT4 and TSH were determined. Prevalence of poor control of disease (high TSH with normal or low FT4 or normal TSH with low FT4), stunting, and cognitive delay were each estimated at 95% confidence level and the associations of early diagnosis, initial and continuing specialist care with these conditions were determined by multiple logistic regression analyses. Results. The prevalences (95% confidence interval) were: poor control of disease 63% (52-73%), stunting 24% (15-34%) and neuro-developmental delay 17% (8-25%). Delay in one aspect of neuro-development was seen in 54% (43-66%). Early diagnosis was protective against poor control of disease (adjusted Odds Ratio, ORa=0.24 [CI: 0.08-0.77]). Trends towards protection were seen for initial and continuing specialist care. For delay in at least one cognetive aspect, early diagnosis was found to be protective (ORa=0.19 [CI 0.05-0.76]); results for specialist care were inconclusive. For stunting, low parent education was found to be a risk factor. (ORa of 5.45 [CI: 1.3-22.7]). Conclusion. Fifty-four percent of the study patients had delay in one aspect of neuro-development. While other factors play a role in the outcome of CH, early diagnosis and treatment were shown to be protective of patients from poor control of disease and cognitive delays. Observed trends of positive benefits of specialist care at onset and continuing medical management, and the association of low parent education with poor growth should be considered in drafting specific guidelines for the long term follow-up care and monitoring of CH patients detected through newborn screening. The low percentage of participation and incomplete retrieval of information are major limitations of this retrospective study. This stresses the need for better monitoring tools that will ensure proper tracking, medical care and evaluation of CH patients.
Infant ; Infant Newborn ; EARLY DIAGNOSIS ; DIAGNOSIS ; CONGENITAL HYPOTHYROIDISM ; NEONATAL SCREENING ; DIAGNOSTIC TECHNIQUES AND PROCEDURES ; CLINICAL LABORATORY TECHNIQUES ; GROWTH AND DEVELOPMENT ; THERAPY ; THERAPEUTICS ; COMPLIANCE