BACKGROUND

Six-pyruvoyl-tetrahydrobiopterin synthase (6-PTPS) deficiency is an inherited metabolic disorder which results in tetrahydrobiopterin (BH4) deficiency causing hyperphenylalaninemia.

This study aimed to describe the clinical, biochemical, and radiologic profiles, and neurologic and developmental outcomes of patients diagnosed with 6-pyruvoyl tetrahydrobiopterin (PTPS) deficiency through newborn screening and confirmed by BH4 loading test, pterin analysis, and gene sequencing who were following-up with the metabolic team.

The research was a single-center descriptive case series study design that was done at the Philippine General Hospital, a tertiary government hospital. The clinical, biochemical, radiologic profiles and neurodevelopmental evaluation of each patient were described.

Nine patients from 1 year 2 months to 14 years 5 months of age were enrolled in the study. Clinical manifestations before treatment were hypotonia, poor suck, and seizure. The most common clinical manifestation even after treatment initiation was seizure. The mean phenylalanine level on newborn screening was 990.68 umol/L, but after treatment was started, mean levels ranged from 75.69 to 385.09 umol/L. Two of the patients had focal atrophy of the posterior lobe on brain imaging. Pathogenic variants on molecular analysis were all missense, with two predominant variants, c.155A>G and c.58T>C. Eight of the nine patients had varying degrees of developmental delay or intellectual disability, while the remaining patient had signs of a learning disorder.

Newborn screening has played a crucial role in the early identification and management of patients with hyperphenylalaninemia due to 6-PTPS deficiency. Confirmation of diagnosis through determination of DHPR activity, urine pterins and/or molecular analysis is necessary for appropriate management. However, despite early initiation of treatment, neurodevelopmental findings of patients with 6-PTPS deficiency were still unsatisfactory.

OBJECTIVES

This study aimed to describe the demographic profile, intervention sessions, goal attainment scaling (GAS), and health-related quality of life (HRQOL) of autistic children receiving speech and language therapy (SLT) in a higher educational institution in the Philippines.

Deidentified data from 18 autistic children aged 4–16 years (mean=8.2; SD=2.9) who received SLT for two months were analyzed. Their demographic profile, intervention sessions, GAS scores, and generic HRQOL scores were documented.

Most participants were school-age children (n=12; 66%) and were boys (n=14; 78%). After two months, the GAS scores of 11 participants (61%) increased by 1–2 points, whereas the scores of the remaining participants decreased (n=6; 33%) or did not change (n=1; 6%). Their mean generic HRQOL scores before and after SLT were 65.6 (SD=15.2) and 61.2 (SD=17.4), respectively.

While the GAS scores increased for most participants, their generic HRQOL scores did not show clinically significant changes after two months of SLT. This can be attributed to the few therapy sessions and short follow-up period. The findings highlight the need to provide long-term support to SLT services of autistic children in the Philippines to document more desirable quality of life outcomes.

INTRODUCTION

Adolescent pregnancy is enduringly perceived as posing a considerable social threat in the Philippines. Recent data from the Commission on Population and Development shows that over 40,000 births annually are from adolescent mothers aged 10 to 14 years, with many of these early pregnancies potentially linked to rape, forced sex, and abuse. Most studies in the past focus on causes and prevention. Limited research explores the lived experiences of early adolescent mothers, especially in the context of unwanted pregnancies.

This study was conducted to determine the lived experiences of unwanted pregnancy among early adolescents age 12 to 15 years old in Zamboanga City.

The study employed an Interpretative Phenomenological Study Design which involved understanding how the adolescents make sense of events, emotions, and interactions in their experiences. Ten (10) adolescent girls with experience of unwanted pregnancy were interviewed.

Analysis of transcripts generated three superordinate themes: (1) Living in the challenges of the present, (2) Facing the future with resilience, (3) Escaping the past. After identifying similarities across cases, two cross-case themes were generated: (1) Dysfunctional family background as a contributor to early pregnancy, and (2) The importance of relying on significant others for support.

The study revealed that unwanted pregnancies were influenced by dysfunctional family environments, socioeconomic challenges, and, in some cases, sexual exploitation. The participants faced emotional distress, financial instability, and social stigma, with support from family playing a critical role in the coping process. Despite the initial adversity, participants demonstrated resilience, finding ways to endure, adapt, and thrive.

Human ; Infant ; Child ; Comprehension ; Cities

Endometriosis is defined as the presence and growth of the glands and stroma of the lining of the uterus in an aberrant or heterotopic location. The cause of endometriosis is uncertain and involves many mechanisms including retrograde menstruation, vascular dissemination, metaplasia, immunologic, and hormonal influences to name a few. Primary umbilical endometriosis is a rare disorder defined as the presence of ectopic endometrial tissue within the umbilicus. It commonly presents with catamenial pain and bleeding from an umbilical nodule. It is a rare condition and treatment has not been standardized yet due to the limited number of cases. Surgical management is the treatment of choice to avoid local recurrence while hormone therapy may be used preoperatively for symptomatic relief. This paper reports a series of recently observed cases of primary umbilical endometriosis with main aim of discussing the different approaches in the management of this rare condition.

Human ; Child

Human ; Male ; Child: 6-12 Yrs Old ; Linear Iga Bullous Dermatosis ; Immunoglobulin A ; Skin Diseases

Cough is a very common symptom causing medical consult. Several remedies are readily available in the market however these are currently not recommended among the pediatric population due to a few reasons which include the benign nature of acute cough, limited effectivity and lack of support from the United States Food and Drug Administration (USFDA) due to abuse potential.

We report a case of a 2-year-old male, no known co-morbidities with a 2 week history of upper respiratory tract infection. Initial assessment showed viral infection hence patient was given medications for symptomatic treatment. However, l week after, patient still presented with symptomatic persistent coughing that disrupted his activities of daily living, hence antitussive medication was already prescribed. After another 7 days, there was still persistence of symptoms, hence patient was given a trial medication of Pregabalin 0.7 milligram/kg/dose which noted instant cough relief one hour after the initial intake. Patient also reported to be more playful, improved sleep at night and improved appetite. Patient received total of 2 doses of Pregabalin in the span of 48 hours. On the third day, patient was still coughing but reported to be significantly less frequent and more productive, hence medication was then put on hold. Patient continuously improved after 5 more days and was eventually cough free.

This case report demonstrates the adequacy of Pregabalin as a supportive antitussive medication in a patient with an acute cough secondary to a viral infection.

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

OBJECTIVE: Attention Deficit Hyperactivity Disorder (ADHD) is a common mental disorder in children. It is unclear how nutrition and dietary components relate to ADHD. Some studies suggest that children with ADHD have lower serum levels of vitamin D than healthy controls. In the current study, the effects of Vitamin D supplementation on ADHD were reviewed and analyzed using available literature. MATERIALS AND METHODS: A meta-analysis and systematic review were performed. Children less than 18 years old diagnosed with ADHD given Vitamin D supplementation or placebo were included. A search was performed in PubMed/MEDLINE, EMBASE, Scopus, Cochrane, and Google Scholar databases from inception to August 2024 using the MeSH keywords: "Vitamin D" AND (ADHD OR Attention Deficit Hyperactivity Disorder) AND (children OR pediatric OR adolescents) AND randomized controlled trial. Standardized Mean Difference (SMD) was used as an effect measure and pooled using random effects meta-analysis. RESULTS: The pooled SMS showed significantly lower ADHD scores (SMD=-0.59, 95%CI=-1.06 to -0.11, p=0.01), lower inattentive scores (SMD=-0.61, 95%CI=-1.00 to -0.23, p=0.002), and lower hyperactivity scores (SMD=-0.64, 95%CI=-1.08 to -0.20, p=0.004) in children given Vitamin D supplementation. The adverse events reported were minor only and did not vary significantly between intervention and control groups. CONCLUSION Vitamin D treatment as an adjuvant to methylphenidate alleviated ADHD symptoms without significant adverse effects, correlating with enhanced vitamin D levels. Given the robust evidence and well-structured randomized controlled trials, we strongly advocate for the integration of vitamin D supplementation with ADHD treatment.
Human ; Male,Female ; Adolescent: 13-18 yrs old ; Child Preschool: 2-5 yrs old ; Child: 6-12 yrs old ; Vitamin D ; meta-analysis ; systematic review