Gout is the most common inflammatory arthritis among Filipinos, characterized by hyperuricemia leading to mono- sodium urate crystal deposition and an ensuing inflammatory response. Though typically a disorder of middle- aged and older adults, tophaceous gout presenting before the age of 30 is rare and suggests aggressive disease progression. Allopurinol, a first-line urate-lowering therapy, is generally effective but may cause rare, potentially life-threatening adverse reactions such as allopurinol hypersensitivity syndrome (AHS). Febuxostat, a non-purine xanthine oxidase inhibitor, is an alternative for patients intolerant to allopurinol. Although hypersensitivity reactions to febuxostat are extremely rare, isolated case reports document their occurrence in both patients with prior AHS and in allopurinol-naïve individuals. Hypersensitivity to both agents is exceedingly uncommon and presents a major therapeutic challenge. In such cases, febuxostat desensitization, conducted in collaboration with allergy specialists, may permit a viable solution to safely reintroduce urate-lowering therapy and prevent further disease progression. This case report describes a patient with young-onset, tophaceous gout who developed severe hypersensitivity reactions to both allopurinol and febuxostat — an unusual and challenging therapeutic dilemma. The case highlights the need for individualized management strategies, including the consideration of drug desensitization, in patients with limited urate-lowering options.

Human ; Male ; Adult: 25-44 Yrs Old ; World Health Organization ; Therapeutics ; Specialization ; Solutions ; Research Report ; Pharmaceutical Preparations

Diffuse infiltrating retinoblastoma is an extremely rare form of retinoblastoma which is characterized by its atypical growth pattern. This unusual presentation adds complexity to the diagnostic process. The purpose of this paper is to report a rare presentation of diffuse infiltrating retinoblastoma presenting after an ocular trauma. We described a 7-year-old Filipino boy presenting with total hyphema following an ocular trauma. Comprehensive ophthalmologic clinical and diagnostic evaluations were performed including visual acuity, slitlamp biomicroscopy, ocular ultrasound, neuroimaging, and histopathology post enucleation to determine diagnosis. The misleading, atypical presentation of diffuse infiltrating retinoblastoma may delay diagnosis. While this dilemma is expected in these scenarios, it should be remembered that timing of diagnosis in retinoblastoma is crucial, as this also equates to optimal management. One should remain vigilant for these uncommon presentations especially in the setting of any intraocular inflammation in children.

Human ; Male ; Child: 6-12 Yrs Old ; Wounds And Injuries ; Visual Acuity ; Retinoblastoma ; Research Report ; Neuroimaging ; Inflammation ; Hyphema ; Contusions

OBJECTIVE: To develop a user-friendly visualization application for the automatic annotation of Human Phenotype Ontology (HPO) terms based on large language models and retrieval-augmented generation (RAG) technology, and to validate its performance in an authoritative case dataset. METHODS: By integrating the domestic open-source large language model DeepSeek-V3 with RAG technology, an interactive web application was deployed on the Streamlit cloud platform. Using only the latest official HPO dataset as the data source, the lightweight sentence-embedding model BAAI/bge-small-en-v1.5 was employed to construct a FAISS vector index. During the online phase, a four-step closed-loop process is automatically completed: multilingual translation, phenotype phrase extraction, RAG candidate retrieval, term mapping, and official database validation. 121 English case reports publicly released by BMJ Case Reports and Oxford Medical Case Reports (with a gold-standard HPO set of 1 794 terms) were selected for application validation. Precision, recall, and F1 score were calculated and compared horizontally with traditional dictionary tools, standalone large language models, and the similar application "RAG-HPO". Finally, replace the model with the more advanced ChatGPT-5 and evaluate its performance on the newly extracted dataset. RESULTS: An HPO term automatic annotation visualization application named PhenoRAG, based on large language models and RAG technology, was successfully developed. Users can access it directly via a web link. Across the 112 cases, a total of 2 150 HPO terms were generated; 2,064 (96.0%) were fully validated by the official database, with a hallucination rate of 1.3% and an HPO ID-name mismatch rate of 2.7%. After deduplication, 1,906 terms remained for testing. The overall precision was 63.65%, recall was 67.34%, and F1 was 65.44%, significantly outperforming traditional annotation tools (F1: 0.45-0.49, P < 0.001). Although PhenoRAG's F1 was lower than that of RAG-HPO (F1 = 0.78, P < 0.001), which relies on a manually constructed synonym database of 54 000 entries plus the HPO dataset, it requires no additional dictionary maintenance and can be used without any background in computer programming. Moreover, after switching to the GPT-5 model, PhenoRAG exhibited no hallucination rate on the new dataset, and its F1 score significantly increased (P = 0.038). CONCLUSION Without constructing a synonym database, the PhenoRAG achieved high-accuracy automatic mapping from clinical text to standard HPO terms. It features a low usage threshold, free access, and a Chinese-language interface, and can directly serve rare disease diagnosis, genetic counseling, and research scenarios in China and worldwide, warranting further clinical promotion and multicenter validation.
Humans ; Phenotype ; Biological Ontologies ; Language ; Software ; Large Language Models

Drug-induced sleep endoscopy (DISE) is used for directly visualizing sites of obstruction among patients with obstructive sleep apnea (OSA). Owing to the scarcity of data, there is still no consensus on the anesthetic regimen for conducting pediatric DISE.

This paper presents a 5-year-old patient who underwent DISE using an opioid-sparing regimen with dexmedetomidine and propofol infusion.

Simultaneous dexmedetomidine and propofol infusion is a promising opioid-sparing regimen for pediatric DISE.

Human ; Male ; Child Preschool: 2-5 Yrs Old ; Endoscopy ; Propofol ; Dexmedetomidine ; Sleep Apnea, Obstructive ; Anesthetics ; Apnea ; Consensus ; Paper ; Patients ; Pharmaceutical Preparations ; Research Report ; Sleep ; Sleep Apnea Syndromes ; World Health Organization

Academic publishing is at a critical juncture. The challenges faced by the academics are mired in controversy. Among theseare three hotly debated concerns. First is the issue of whether technological innovations such as artificial intelligence (AI)improves research efficiency or if its use sacrifices research integrity.Another is the controversy between paywall publishingand open access. Lastly, adapting an appropriate business model for sustainability is a contentious issue and the choice betweena commercial or a university-based publishing platform is a difficult one.

Traditional models of scientific investigation relied on tedious intellectual calisthenics in all aspects of research —identifying research gaps, reviewing of published literature, devising valid methodology, collecting data, analysing results, and,finally, drawing conclusions. With the advent of powerful tools employing artificial intelligence, these heavy tasks are efficientlycarried out. The dilemma lies in determining which parts of the work can be attributed to the authors and which are ascribedto the output of large language models (LLMs) and other automated assistance employed.Despite requiring adequate vettingby experts of these AI-aided output, many in the scientific community still question these methods. Can research employingAI be considered honest work? Will full disclosure answer doubts as to the integrity of the scientific work?

Indeed, LLMs just gather information that is already out there, albeit more efficiently. After all, science progresses bystanding on the shoulder of giants. AI makes such work comprehensive and efficient. Standing on those proverbial shoulders,however, require access to prior work, hence our next challenge in academic publishing--open access versus paid access.Paywalls limit the benefits of valuable research to institutions and universities with the capacity to pay. Excluded from these arethose from low resourced countries, with nations from the global south being affected disproportionately. Additionally, whilenumerous authors appreciate the features of open access as it improves their impact and visibility, many feel unduly burdenedsince the cost of publishing in this format is passed on to them.

This brings us to our third issue: who bears the cost of academic publishing? Indeed, it is a lucrative industry, generatingan annual revenue of US$19 billion and an estimated 40 percent profit margin. Many, however, find fault in this businessmodel as concerns about the profit motives of the commercial publishers far overshadow their sustainability goals.

How do we navigate this landscape of controversies? We, at the ACTA, as part of the community of scholars, would needto clarify our mission. Our goals for this publication should be consistent with our values. These values, such as scientific rigor,integrity, and accountability, should be reflected in our policies. We should be cognizant of the role we play in national scientificdiscourse while we endeavor to make an impact in the global scene. We are accountable to our stakeholders — nurturingearly career scholars, supplying evidence to health policymakers, and being accountable to those who provide resources tosustain us. This stewardship is essential so that ACTA will stand shoulder to shoulder with the giants on which science buildsupon to benefit future generations.

Artificial Intelligence ; Commerce ; Costs And Cost Analysis ; Disclosure ; Drawing ; Efficiency ; Family Characteristics ; Forecasting ; Goals ; Gymnastics ; Health ; Health Resources ; Industry ; Intelligence ; Inventions ; Language ; Literature ; Methods ; Play And Playthings ; Policy ; Publications ; Publishing ; Research ; Residence Characteristics ; Role ; Science ; Shoulder ; Social Responsibility ; Universities ; Ursidae ; Volition ; Work ; World Health Organization

Bullous hemorrhagic dermatosis (BHD) is a rare cutaneous manifestation characterized by tense hemorrhagic bullae that appear at sites distant from low molecular weight heparin (LMWH) injections, typically within seven days of exposure. As of March 2022, only 94 cases have been reported. It most commonly affects elderly males with predisposing factors for thromboembolism, such as carcinoma, and usually involves the extremities.

This case highlights the importance of maintaining a high index of suspicion for bullous hemorrhagic dermatosis (BHD) in patients receiving low molecular weight heparin, even beyond the typical 7-day window and in demographics not commonly affected. Early recognition and prompt discontinuation of the offending agent, as demonstrated in this atypical presentation involving a Filipino elderly woman with multiple comorbidities and no malignancy, can lead to favorable outcomes. Clinicians should be aware of this rare but reversible complication to avoid misdiagnosis and ensure appropriate management.

Human ; Female ; Aged: 65-79 Yrs Old ; Affect ; Aged ; Blister ; Carcinoma ; Causality ; Demography ; Diagnostic Errors ; Enoxaparin ; Extremities ; Heparin ; Heparin, Low-molecular-weight ; Index ; Injections ; Lead ; Male ; Molecular Weight ; Neoplasms ; Patients ; Research Report ; Skin Diseases ; Thromboembolism ; Women

BACKGROUND

Burn injuries remain a significant global public health problem, causing substantial morbidity, mortality, and economic burden, particularly in low- and middle-income countries where nearly 90% of cases occur. Despite the importance of timely and appropriate first aid in reducing complications, community responses to burn injuries in many settings continue to rely on traditional or non-evidence-based practices.

OBJECTIVES

This qualitative phenomenological study explored community-based knowledge and responses related to the causes and first aid of burn injuries.

METHODS

The study involved ten (10) purposively selected informants residing in South Mangga Dua Urban Village, Central Jakarta, Indonesia. Data collection methods included semi-structured interviews, direct observations, and focus group discussions (FGDs). Thematic analysis was used.

RESULTS

Three (3) core domains were identified: (1) community perceptions of burn causes and classifications, (2) indigenous first aid practices used in domestic settings, and (3) sources of knowledge and information pathways related to burn first aid. Participants commonly attributed burns to incidents involving fire, hot liquids, and electrical faults. Their understanding of burn severity was limited to superficial assessments, with little awareness of clinical classifications. First aid responses were largely based on traditional practices such as the application of toothpaste, honey, or aloe vera, while evidencebased practices like using running water were rarely mentioned. Notably, most participants relied on familial teachings and informal community experiences as their primary sources of knowledge, with limited exposure to health professionals or verified media content.

CONCLUSION

Community knowledge is culturally rooted but misaligned with medical standards, potentially leading to unsafe practices. Culturally sensitive health education integrating traditional beliefs and accurate information is essential to improve outcomes in burn injury management.

Wounds And Injuries ; Residence Characteristics ; Public Health ; Mortality ; Insemination, Artificial, Heterologous ; Income ; Financial Stress ; Burns ; Health Education ; Attitude ; First Aid ; Medicine ; Health Communication ; Urban Population

Hemichorea, a hyperkinetic disorder characterized by involuntary, rapid, irregular movements on one side of the body, typically originates from cortical basal ganglia involvement, particularly the striatum. We present a 63-year-old Filipino female with poor glycemic control and known idiopathic myelofibrosis exhibiting chorea-ballism movements in the right distal and proximal extremities. Significant improvement in involuntary movements was observed upon optimal glycemic control and benzodiazepine therapy. This report underscores the noteworthy presentation of uncontrolled hyperglycemia in type 2 diabetes, while highlighting the potential contribution of myelofibrosis.

Human ; Female ; Middle Aged: 45-64 Yrs Old ; Primary Myelofibrosis ; Research Report ; Glycemic Control ; Hyperglycemia ; Diabetes Mellitus, Type 2

INTRODUCTION

Diffuse cutaneous mastocytosis (DCM) is a rare and severe form of cutaneous mastocytosis which may present in the neonatal period; thus early recognition is essential. Symptoms of mastocytosis are exacerbated by mast cell degranulating agents more commonly from heat, friction, local trauma, drugs and food. This is a case of DCM presenting with bullous eruptions after immunization.

CASE REPORT

An 11-month-old boy presented with generalized erythematous to hyperpigmented macules and patches initially at birth, with progression to bullous eruptions immediately after immunization without any systemic symptoms. Biopsy revealed superficial and deep mixed cell infiltrates consisting of lymphocytes, histiocytes and numerous mast cells. Giemsa stain highlighted the metachromatic mast cell granules. Serum tryptase was elevated by 13 times (130 ug/L). The patient was prescribed oral antihistamines and topical steroids that offered good response. Avoidance of all potential triggers was instructed.

DISCUSSION

The extensive cutaneous involvement in DCM (generalized erythema, diffuse papules that develop pachyderma, darker skin, peau d’orange) are due to the diffuse infiltration of the dermis with mast cells, accompanied with an elevated serum tryptase.

Unique to this local case are exacerbations triggered by vaccination. There is literature to support evidence of vaccination reactions to pentavalent vaccine in children with DCM though the pathway associated with mast cell degranulation after immunization has not yet been specified.

It is advised that patients with DCM follow scheduled immunization guidelines with precautionary measures.

Human ; Male ; Infant: 1-23 Months ; Wounds And Injuries ; Research Report ; Pharmaceutical Preparations ; Mastocytosis, Cutaneous ; Hot Temperature

BACKGROUND

Tuberculosis (TB) has long been a recognized infectious disease contributory to worldwide mortalities. Most cases are from low- to middle-income countries, including the Philippines. Hepatobiliary TB comprises only a small portion of extrapulmonary TB. Tuberculous liver abscess (TLA) usually presents with nonspecific findings causing delay in the diagnosis. Due to this, further reports are needed for early detection along with timely treatment for future courses.

CASE

Presenting a 17-year-old male who came in with right upper quadrant abdominal pain associated with intermittent fever. The symptoms persisted and eventually progressed to abdominal distention, weight loss and jaundice. Initial laboratories were taken including an ultrasound finding of a complex lesion in the hepatic lobe. He was initially managed with empiric antibiotic therapy – Ciprofloxacin and Metronidazole, however, despite it, there was persistence of right upper quadrant pain, abdominal distention and jaundice. Due to this, further work-up was done with drainage of the abscess. Cultures were taken revealing tubercle bacilli along with other microbial growth. Antibiotics and antituberculosis medications sensitive to the microorganisms were started. With the noted improvement of jaundice and abdominal distention and resolution of pain and fever, he was discharged.

CONCLUSION

 Tuberculous liver abscess is an uncommon presentation of extrapulmonary tuberculosis in an
immunocompetent male with right upper quadrant abdominal pain and jaundice. Although TB is endemic in the
Philippines, this gastrointestinal involvement is often not immediately recognized. Thus, with any suspicion of liver abscess,
tuberculous (TLA) type should be included in the differentials for early diagnosis and management. 

Human ; Male ; Adolescent: 13-18 Yrs Old ; Abscess ; Liver ; Liver Abscess ; Research Report