BACKGROUND AND OBJECTIVE

Transient congenital hypothyroidism (TCH) refers to temporary deficiency of thyroid hormone identified after birth which later recovers to improved thyroxine production. Its prevalence in the Philippines has not been reported in a large-scale study. Its diagnosis remains difficult due to its numerous possible etiologies. Identifying the predictive factors of TCH may aid in earlier diagnosis and decreased risk of overtreatment. This study aimed to determine the predictive factors for TCH in children with congenital hypothyroidism (CH) detected by newborn screening (NBS) in the Philippines from January 2010 to December 2017.

In this multicenter retrospective cohort study involving 15 NBS continuity clinics in the Philippines, medical records were reviewed, and clinical and laboratory factors were compared between children with TCH and those with permanent congenital hypothyroidism (PCH). Of the 2,913 children diagnosed with CH in the Philippines from 2010 to 2017, 1,163 (39.92%) were excluded from the study due to an unrecalled or lost to follow-up status, or a concomitant diagnosis of Down Syndrome.

Among the 1,750 patients included in analysis, 6.97% were diagnosed with TCH, 60.80% were female, mean gestational age at birth was 38 weeks, and mean birth weight was 2,841 grams. Confirmatory thyrotropin (TSH) was lower and confirmatory free thyroxine (FT4) was higher in the TCH group compared to those with PCH (TSH 32.80 vs 86.65 µIU/mL [pCONCLUSION

Of all the patients with confirmed congenital hypothyroidism via the newborn screening, 6.97% were diagnosed with transient CH. Factors associated with TCH are confirmatory TSH and FT4, L-thyroxine dose requirements, thyroid ultrasound findings, gestational age at birth, and a maternal history of thyroid illness.

Human ; Infant, Newborn ; Mass Screening ; Neonatal Screening ; Censuses

Infant, Newborn ; Mass Screening ; Neonatal Screening

Objective:To determine the effectiveness of a one-stage hearing screening protocol in detecting hearing loss in high risk newborns at the Neonatal Intensive Care Unit of the Jose R. Reyes Memorial Medical Center.

Methods:
Design:Cross-Sectional Study
Setting:Tertiary Government Training Hospital
Population:High-risk newborns admitted at the Neonatal Intensive Care Unit of the Jose R. Reyes Memorial Medical Center from March to December 2023 underwent a one stage universal newborn hearing screening protocol. Excluded from the study were patients who were admitted for less than 48 hours, without consent from their parents or guardians and babies who were not cleared medically to undergo testing, and those who presented with aural atresia and/or any physical anomaly of the head and the external ear.

Results:A total of 169 babies were initially seen with 16 babies lost to follow up resulting in a final total of 153 babies (or 306 ears) tested. The refer and false positive rates were 9.8% and 8.92%, respectively, on average comparable to or even better than the two-step protocol in most studies. Sensitivity was determined to be 100% while specificity was 91.08%. The incidence of hearing loss in the study population was 19.8/1000, consistent with various study outcomes for high risk newborns. There was no reported incidence of auditory neuropathy in this study. The primary risk factors that were present in babies with hearing loss were: low birth weight, prematurity, neonatal intensive care unit admission of more than 5 days and exposure to ototoxic medications.

Conclusion:The one-staged Automated Auditory Brainstem Response (AABR) is an effective and efficient newborn hearing screening protocol for high-risk newborns in the Neonatal Intensive Care Unit (NICU) setting and eventually, may be considered as an alternative hearing screening technique whenever available in this cohort. More studies about improving newborn hearing screening, cost-analysis, diagnostics and interventions of hearing loss should be pursued in implementation of the Universal Hearing Screening Law in the Philippines.

Humans ; Early Detection of Cancer ; Endoscopy ; Esophageal Neoplasms/epidemiology* ; Risk Factors ; Mass Screening

Objectives: This preliminary study determined the prevalence of HIV infection among patients with newly diagnosed solid and hematologic malignancies at the Philippine General Hospital - Cancer Institute. Methods: Adult Filipinos aged 19 years and above with biopsy- or imaging-confirmed malignancy and for chemotherapy, seen at the adult medical oncology and hematology clinic from January to September 2021 were included. Demographic and clinical data were obtained using a questionnaire. Rapid HIV screening was performed using blood extracted via finger prick. Pre- and post-test counselling were conducted. Results: Of the 124 patients included in our study, majority were female (91, 73.4%), and 45 years old and above with a median age of 49 (20 – 74). Majority had solid tumors (121, 97.6%) with breast cancer being the most common (67, 54.0%) followed by colorectal (18, 14.5%), and head and neck cancer (14, 11.3%). Among those with hematologic malignancies, two had acute myelogenous leukemia and one had multiple myeloma. Six patients had AIDS-defining malignancies (NHL, cervical cancer). HIV risk factors and associated conditions were present in 18 patients (14.5%). Ten patients reported prior HIV testing. None of the patients tested positive for HIV. Conclusion The absence of HIV cases detected in our cohort may be due to the low prevalence of HIV risk factors and associated conditions. At this time, there is insufficient evidence to routinely recommend HIV testing among newlydiagnosed cancer patients. However, physicians are encouraged to offer HIV testing to cancer patients, especially to those with HIV risk factors, given the benefits of early detection and management of HIV.
HIV ; Philippines ; Neoplasms ; Mass Screening

Cystic Fibrosis (CF) is a rare condition among Asians and has not been reported in the Philippines as of this time. The inclusion of this disease in the Philippines’ Expanded Newborn Screening Program (ENBS) has provided this Filipino family the opportunity of early detection and appropriate management of this condition that could ensure the survival of the proband and his other surviving siblings. Here we present a case of a 24-month-old male who had a positive Expanded Newborn Screening (ENBS) test for cystic fibrosis and eventually underwent further tests to confirm a homozygous deletion of exons 1 - 2 of the CFTR gene. He subsequently had recurrent pneumonia but is being managed by a team consisting of a pulmonologist, gastroenterologist, and a metabolic dietitian. The proband had an older sibling whose Newborn Screening (NBS) test was normal and who eventually expired from recurrent bouts of pneumonia. This sibling was never managed as a case of cystic fibrosis. Implications on the diagnosis and management of CF in the local setting is also discussed. The importance of an appropriate CF panel customized to the local population should be reiterated and carrier testing should be encouraged to help with proper family counseling for future pregnancies for the family involved.
Cystic Fibrosis ; Neonatal Screening ; Philippines

OBJECTIVE

This study determined the diagnostic accuracies of Growth and Retinopathy of Prematurity (GROP) criteria and a novel modified G-ROP criteria on identifying retinopathy of prematurity (ROP) in infants referred for screening at a tertiary hospital.

This was a single-center, cross-sectional, retrospective study. Medical records of infants referred for ROP screening from January 2012 to December 2021 were reviewed. Infants were labelled as “requiring ROP examination” if they met the 2020 Philippine Academy of Ophthalmology – ROP Working Group (PAO-ROPWG) screening consensus, G-ROP, or modified G-ROP criteria. We compared the accuracy of each criterion in predicting prethreshold ROP, evaluating sensitivity, specificity, and predictive values, as well as percentage of low-risk infants. Statistical analysis used Chi-square tests and one-way ANOVA with post hoc testing.

Of the 873 infants, 162 infants (18.6%) were noted to have ROP of any stage. Type 1 ROP developed in 15.4%, and type 2 ROP in 16.7%. The 2020 PAO-ROPWG consensus had 100% sensitivity (95% CI: 86.3%- 100%) in detecting type 1 and 2 ROP while 323 infants (37%) were low-risk. G-ROP criteria had 100% (95% CI: 86.3%-100%) sensitivity and 79.2% (95% CI: 76.4%-81.9%) specificity in predicting type 1 ROP, and 88.89% (95% CI: 70.84%-97.65%) sensitivity and 79.1% (95% CI: 76.2%-81.8%) specificity in predicting type 2 ROP, while 672 infants (77%) were classified as low-risk. Modified G-ROP criteria had a 100% (95% CI: 86.3%-100%) sensitivity in predicting type 1 and 2 ROP, 54.9% (95% CI: 51.5%-58.3%) and 55.1% (95% CI: 51.7%-58.5%) specificity in predicting type 1 and type 2 ROP, respectively, while 472 infants (54%) were classified as low-risk.

G-ROP and modified G-ROP criteria showed high sensitivity and better specificity compared to the 2020 PAO-ROPWG consensus. Their stricter criteria for gestational age and birth weight likely enhanced specificity. Further research is needed to confirm these findings in a broader population.

Humans ; Infant, Newborn ; Neonatal Screening ; China

OBJECTIVE: To explore the disease spectrum for abnormal 3-hydroxyisovalerylcarnitine (C5OH) metabolism identified through newborn screening and clinical diagnosis patients and the key points for differential diagnosis so as to raise the awareness of pediatricians for such diseases. METHODS: Clinical data of 85 neonates with abnormal C5OH metabolism identified from February 2004 to January 2022 at Xinhua Hospital Affiliated to Shanghai Jiao Tong University School of Medicine were collected. Their clinical manifestations and results of tandem mass spectrometry (MS/MS), gas chromatography mass spectrometry (GC-MS) and genetic testing were retrospectively analyzed. RESULTS: Among the 85 cases, 46 (54.1%) were identified by neonate screening, whilst 39 (45.9%) were clinically diagnosed patients. Five diseases were diagnosed, including 28 cases with multiple carboxylase deficiency (MCD, 32.9%), 29 cases with 3-methylcrotonyl-coenzymeAcarboxylasedeficiency (MCCD, 34.1%), 4 cases with 3-methylglutaconic acid (3-MGA, 4.7%), 7 cases with 3-hydroxy-3-methylglutaric acid (3-HMG, 8.2%), and 17 cases with beta-ketothiolase deficiency (BKD, 20.0%). The disorders were characterized by sudden onset, anorexia, vomiting, diarrhea, abnormal breathing, consciousness disorder, spasm and developmental delay. CONCLUSION Among newborns with abnormal C5OH metabolism, MCCD is the most common disorder, which was followed by BKD and MCD. For patients with abnormal C5OH metabolism, MCD is the most common, followed by BKD and 3-HMG. C5OH related diseases have great heterogeneity. Combination of blood acylcarnitine levels, urinary organic acid levels and genetic testing based on clinical characteristics can help to attain the diagnosis.
Humans ; Infant, Newborn ; China ; Neonatal Screening ; Retrospective Studies ; Tandem Mass Spectrometry/methods*