BACKGROUND

Newborns screened positive for Galactosemia through Expanded Newborn Screening (ENBS) with borderline levels undergo lactose challenge that requires interruption of breastfeeding temporarily then shifting to soy-based formula.

OBJECTIVE

To determine the percentage of Classical Galactosemia (CGal), Non-classical Galactosemia (NCGal), probable mild variant form, and negative Galactosemia among newborns screened positive for Galactosemia who underwent lactose challenge.

METHODS

This is a retrospective study. NBS records were reviewed and data were collected from January 2015 to December 2020.

RESULTS

Out of the 117 newborns screened positive for Galactosemia, 58 underwent lactose challenge. Majority were male, term with a birth weight of 2500-4000g and received a final disposition in 4-6 months. Fifteen patients underwent 1-week lactose challenge wherein six reached a resolution on first challenge. Majority, 35 (60.3%) were negative for Galactosemia, six (10.3%) probable mild variant Galactosemia, three (5.2%) NCGal, and no CGal were observed. Fourteen suspected cases (24.1%) are pending final disposition.

CONCLUSION

This study describes the demographics of newborns flagged for Galactosemia who underwent lactose challenge. A 1-week lactose challenge may be recommended to further detect patients who are negative for Galactosemia.

Human ; Infant Newborn: First 28 Days After Birth ; Galactosemias

Incontinentia Pigmenti (IP) is an X-linked dominant genodermatosis caused by a mutation of the NEMO or IKBKG gene. Cutaneous manifestations are common, however, involvement of the eyes, teeth, and central nervous system can also be seen. Genetic counseling plays a vital part in the management, as well as a multidisciplinary approach involving other specialties.

This is a case of a newborn female with unremarkable birth and maternal history who presented with erythematous papules, vesicles, and pustules on the trunk, upper extremities, and lower extremities upon birth. She was born term via normal spontaneous delivery to a 34-year-old G1P0 with no known personal and family history of dermatologic or other genetic conditions. On the 5th day of life, lesions started to form a whorl-like appearance, eventually turning hyperpigmented, with a blaschkoid distribution. Skin punch biopsy revealed several eosinophils on the dermis highly suggestive of IP. Dermoscopy showed polycyclic scaling with a yellowish center and erythematous halo. Genetic testing revealed a heterozygous pathogenic deletion encompassing exons 4-10 of the IKBKG gene, confirming the diagnosis of IP. Genetic counseling was done. The patient’s family was advised periodic monitoring and surveillance.

Dermoscopy in IP can provide an earlier diagnosis. Stage I shows a yellowish center and erythematous halo with yellowish serocrusts surrounded by polycyclic scaling. Only two cases of IP dermoscopy have been published so far. Dermoscopy complements histopathology in IP.

Human ; Female ; Infant Newborn: First 28 Days After Birth ; Dermoscopy ; Incontinentia Pigmenti

Congenital syphilis is a worldwide public health concern. This occurs when an infected mother transmits the infection to the fetus during pregnancy or at birth.

We present a case of a 6-day-old male, term, born to a mother with secondary syphilis, via normal spontaneous delivery. Upon birth, patient was well and not in cardiorespiratory distress. However, cutaneous examination revealed multiple, well-defined vesicles and pustules on an erythematous background, some topped with erosions and crusts on the scalp, face, extremities, and trunk. Laboratory work-up and imaging were done which revealed congenital syphilis. He was managed with intravenous Penicillin (100,000iu) 160,000 IV for ten days, and wound healing was hastened by use of a coconut-based cellulose wound dressing on the erosions. He was then referred to a multispecialty team to assess and co-manage possible complications. Regular interval follow-up and repeat laboratory tests were advised for observation and for monitoring.

Congenital syphilis is caused by the bacterium Treponema pallidum. Sequelae include preterm birth, low birth weight, skin lesions, bone deformities, hepatosplenomegaly, anemia, and neurological problems. Diagnosis can be made on clinical suspicion combined with Rapid Plasma Reagin (RPR) and Venereal Disease Research Laboratory (VDRL). Aside from Penicillin G, wound care, nutritional build up, and close monitoring of growth and development with regular follow-ups are essential aspects in the management of congenital syphilis. With timely and adequate treatment, infants have a higher likelihood of complete resolution of symptoms, prevention of long-term complications, and improved overall health outcomes.

Human ; Male ; Infant Newborn: First 28 Days After Birth ; Syphilis, Congenital ; Syphilis

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.

Human ; Male ; Female ; Infant Newborn: First 28 Days After Birth ; Newborn Screening ; Evoked Potentials ; Brain Stem ; Neonatal Intensive Care

BACKGROUND

Bronchial asthma is one of the most common chronic childhood diseases encountered in the primary care setting. Adherence to recommendations from clinical practice guidelines on asthma can be utilized as an indicator of quality of care when evaluating the implementation of the universal health care in the Philippines.

OBJECTIVES

To determine the clinical profile of pediatric patients with bronchial asthma; and to evaluate the prescription patterns for asthma treatment in a primary care setting.

METHODS

This was a retrospective cohort study that involved review of the electronic medical records in a rural site of the Philippine Primary Care Studies (PPCS). All patients less than 19 years old who were diagnosed with asthma from April 2019 to March 2021 were included. Quality indicators for asthma care were based on adherence to recommendations from the 2019 Global Initiative for Asthma (GINA) Guidelines.

RESULTS

This study included 240 asthmatic children with mean age of 6 years (SD ± 4.9) and a slight male preponderance (55.4%). Majority (138 children or 57.5%) were less than 6 years old. Out of the 240 children, 224 (93.3%) were prescribed inhaled short-acting beta-agonists (SABA) and 66 (27.5%) were prescribed oral SABA. Only 14 children (5.8%) were prescribed inhaled corticosteroids (ICS), with 13 children (5.4%) given ICS with longacting beta-agonists (LABA) preparations, and one child (0.4%) given ICS alone. Quality indicators used in this study revealed underutilization of ICS treatment across all age groups, and an overuse of SABA-only treatment in children 6 years old and above. Moreover, 71.3% of the total patients were prescribed antibiotics despite the current GINA recommendation of prescribing antibiotics only for patients with strong evidence of lung infection, such as fever or radiographic evidence of pneumonia.

CONCLUSION

There were 240 children diagnosed with asthma over a 2-year period in a rural community, with a mean age of 6 years old and a slight male predominance. This quality-of-care study noted suboptimal adherence of rural health physicians to the treatment recommendations of the GINA guidelines, with overuse of SABA and underuse of ICS for asthma control.

Human ; Male ; Infant Newborn: First 28 Days After Birth ; Infant: 1-23 Months ; Child Preschool: 2-5 Yrs Old ; Child: 6-12 Yrs Old ; Asthma ; Lung

BACKGROUND AND OBJECTIVES

The etiology of pneumonia in the pediatric population varies by age group. Among patients one month to 59 months old, viral pathogens are the most common cause of lower respiratory infections. The study aims to determine the frequency distribution of antibiotic prescription among patients one month to 59 months old and to determine the adherence of primary care facilities to local guidelines with recommended antibiotics.

METHODS

A descriptive retrospective study using electronic medical records was conducted at two primary care sites. Patients aged 1 month to 59 months old seeking consult via telemedicine or face-to-face diagnosed with community acquired pneumonia from April 2019-March 2020 in the rural facility and May 2019-April 2020 in the remote facility were included in the study. The primary outcome was to determine the patterns of antibiotic use in pneumonia in remote and rural areas and adherence to the recommended antibiotics by the 2016 Philippine Academy of Pediatric Pulmonologists pediatric community-acquired pneumonia clinical practice guidelines (CPG).

RESULTS

There were 30 pediatric patients diagnosed with pneumonia in the rural facility and 213 in the remote facility. Of these patients with pneumonia, 96.7% and 94.8% were prescribed antibiotics in the rural and remote sites, respectively. The most commonly prescribed antibiotic in the rural facility was co-amoxiclav (26.7%), while amoxicillin (51.6%) was the most common in the remote facility. Adherence to the CPG in the rural site was lower at 23.3% (n=8/30) compared to the remote site which was 55.9% (n=119/213).

CONCLUSION

Primary care physicians prescribed antibiotics in over 90% of the time upon the diagnosis of pneumonia in children aged one month to 59 months old, despite viral pneumonia being the more common in primary care setting. Adherence to recommended antibiotics was higher in the remote setting than in the rural setting. Use of EMR to monitor quality of care can improve patient outcomes and safety, pointing out the importance of improving the quality of documentation in the study sites.

Human ; Infant Newborn: First 28 Days After Birth ; Infant: 1-23 Months ; Child Preschool: 2-5 Yrs Old ; Pediatrics ; Pneumonia ; Primary Health Care

OBJECTIVE: This study described bronchiectasis profiles at the Philippine Children’s Medical Center (2021-2023). MATERIALS AND METHODS: A retrospective chart review at PCMC analyzed the demographic profile, imaging, management and outcome of patients with bronchiectasis enrolled in the Chronic Lung Disease Program from 2021-2023. Results: Twenty seven patients were included in this study. Most patients were diagnosed after the age of six and showed female predominance. The most common symptom at the time of diagnosis was chronic cough (81.5%) with pulmonary tuberculosis (51.9%) as the most common etiology. All patients were treated with cyclic azithromycin. Pseudomonas aeruginosa was the prevalent microorganism isolated in the sputum and tracheal aspirate samples of the patients (56.5%). Conclusion Patients with bronchiectasis were more commonly diagnosed in children past age of six with more prevalence in females. The most common symptom was chronic cough followed by fever, dyspnea and weight loss. Pulmonary tuberculosis and recurrent respiratory infections were noted to be the most common etiology with the left lower lobe most affected in HRCT. The most common phenotype seen was cystic, which is irreversible and a sign of progressive bronchiectasis, which may point to a late diagnosis. This emphasizes the need for physicians to have a high index of suspicion in patients with chronic or recurrent respiratory symptoms. All patients were treated with an oral macrolide with 25-31% of patients with decreased and/or absent symptoms. Pseudomonas aeruginosa was the prevalent microorganism isolated in the sputum and tracheal aspirate samples of the patients, which should be taken into account when treating for exacerbation.
Human ; Male,Female ; Infant newborn: First 28 days after birth ; Infant: 1-23 months ; Child Preschool: 2-5 yrs old ; Child: 6-12 yrs old ; Bronchiectasis ; Patients ; Tuberculosis ; Infections