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.

Weber-Christian Disease (WCD), or relapsing febrile nodular panniculitis is a rare form of subcutaneous fat inflammation commonly affecting women aged 40-75 years old. It is rarer in children with only 1 previously reported case in the Philippines. It presents as erythematous nodules, frequently affecting the lower extremities. There is no standard treatment, but reportedly improves with steroid therapy, cyclosporine, and immunomodulators.

This is a case of a 12-year-old-female, who presented with a 4-month history of palpable facial nodules, thigh pains, and recurrent fever. Work-up for hypersensitivity reaction, autoimmune condition, hematologic problem, or infectious etiology yielded unremarkable findings, and corresponding management had no significant response. Patient developed firm lesions on the abdomen which was sent for biopsy and showed results consistent with WCD. Steroid, hydroxychloroquine, and topical indomethacin were then started and noted gradual improvement of the lesions. Patient was then discharged improved with lesions noted to progressively decrease in size and with no appearance of newer lesions upon follow-up.

WCD is a rare form of nodular panniculitis, more so in the younger age group. It is characterized by presence of cutaneous lesions associated with systemic symptoms. Skin biopsy is necessary to confirm its diagnosis. Visceral organ involvement and failure to respond to treatment may result to poor prognosis, and occasionally leads to death.

BACKGROUND AND OBJECTIVE

Foreign body (FB) ingestion is a common pediatric concern in the Philippines, but local studies on flexible endoscopic management are lacking. This study aimed to describe the clinical profile and outcomes of children referred for flexible endoscopic management and identify factors associated with poor outcomes.

This retrospective cohort study included 145 patients agedRESULTS

Most FB ingestions (96.55%) were accidental, with coins as the most common FB (56.55%). Patients were admitted an average of 40.42 hours post-ingestion and referred for endoscopy within 9.28 hours. Flexible endoscopy was performed in 44.83% of cases, with a 98.46% success rate and an average procedure time of 32.25 minutes. Spontaneous passage occurred in 50.34% of cases. Poor outcomes were linked to age 48 hours; OR: 15.43, p = 0.0181), and prolonged procedures (>30 minutes; OR: 12, p = 0.0318). Good outcomes were associated with unremarkable physical exams (OR: 0.078; p = 0.0018), early admission (CONCLUSION

Flexible endoscopy is effective and safe for FB extraction in children. Early admission and timely intervention significantly improve outcomes, while delays and prolonged procedures increase the risk of complications.