BACKGROUND

Managing low ovarian response remains challenging despite advancements in assisted reproductive technology (ART). Although several approaches have been proposed, there is no strong evidence that a particular stimulation protocol is superior over the other in terms of improving reproductive outcomes in this group of women. The double stimulation protocol (DuoStim) suggests ovarian stimulation during both the follicular phase and the luteal phase of the same ovarian cycle; hence, facilitating two oocyte retrievals in the shortest amount of time.

This study assessed the effect of the double stimulation protocol (DuoStim) on poor ovarian responders in terms of cumulative live birth rates and clinical pregnancy rates, and compared these outcomes to conventional stimulation protocols.

This is a systematic review and meta-analysis of randomized controlled trials (RCT), cohort and cross-sectional studies in accordance with the Preferred Reporting Items for Systematic Review and Meta-analysis (PRISMA) statement. Data from eligible journals were tabulated and analyzed using Cochran’s Q and I² tests.

Eight studies involving poor ovarian responders were included in the meta-analysis. Pooled analysis demonstrated no significant difference between DuoStim and conventional ovarian stimulation protocols in clinical pregnancy rate (OR 0.99, 95% CI 0.75–1.30) and cumulative live birth rate (OR 0.87, 95% CI 0.59–1.28). Fertilization rates were likewise comparable between groups. Nevertheless, several included studies reported higher oocyte yield and greater numbers of mature oocytes and blastocysts with DuoStim

Current evidence does not demonstrate significant superiority of DuoStim over conventional ovarian stimulation protocols in terms of clinical pregnancy rates, cumulative live birth rates, or fertilization rates among poor ovarian responders. However, DuoStim appears to be an effective strategy for increasing oocyte yield within a shorter treatment timeframe. Its use may be particularly relevant in selected patients with diminished ovarian reserve, advanced maternal age, or urgent fertility preservation needs. Further high-quality prospective trials are warranted to clarify its impact on reproductive outcomes.

Achondroplasia (ACH) is a common inherited skeletal dysplasia (inherited dwarfism) that compromises quality of life across the lifespan. In 2021, vosoritide became the first approved precision therapy for ACH and is now available in more than 40 countries. Compared with prior symptomatic measures, vosoritide has demonstrated favorable efficacy and a reassuring safety profile. Nevertheless, existing international ACH guidelines largely emphasize complication management and symptomatic care, and there is no unified consensus on pharmacologic therapy. To address this gap, an international expert group developed the International Consensus Guidelines for the Implementation and Monitoring of Vosoritide Therapy in Patients with Achondroplasia providing systematic recommendations that span the continuum of care - from initial patient contact and pre-treatment assessment to medication counseling, injection training, and long-term outcome monitoring. These recommendations complement and refine current management and nursing protocols for individuals with ACH and offer practical guidance for clinicians across diverse regions. This article highlights key elements of the guideline to provide evidence-based support and clinical direction for healthcare professionals in China treating children with ACH using vosoritide.
Humans ; Achondroplasia/drug therapy* ; Consensus ; Practice Guidelines as Topic ; Child

OBJECTIVE: To analyze the clinical characteristics, treatment, and prognosis of seven pediatric patients with Acute myeloid leukemia (AML) positive for the t(16;21)(p11;q22) FUS::ERG fusion gene. METHODS: A retrospective analysis was carried out on the clinical data, treatment, and prognosis of seven AML patients with t(16;21)(p11;q22) FUS::ERG fusion gene admitted to Henan Children's Hospital between June 2015 and November 2024. Relevant literature was also reviewed. This study was approved by the Medical Ethics Committee of the Hospital (Ethics No.: 2024-102-001). RESULTS: Among 297 pediatric patients with AML, 7 cases (2.36%) were positive for the t(16;21)(p11;q22) FUS::ERG fusion gene, including 3 males and 4 females, with a median age of 11 years (range: 3 ~ 12 years). According to the FAB classification, these included 1 case of M2, 3 cases of M5, and 3 cases of AML-not otherwise specified (non-M3). All 7 patients were found to harbor the t(16;21)(p11;q22) translocation, with 3 cases showing additional chromosomal abnormalities. Immunophenotyping revealed universal expression of CD13, CD33, CD34, and CD117, with partial expression of CD56, CD4, CD64, CD123, CD15, CD38, CD11b, HLA-DR, cMPO, and CD16. One patient achieved complete remission (CR) after the first course of DAE (cytarabine + daunorubicin + etoposide) induction chemotherapy but relapsed and discontinued the treatment. Six patients received DAH (cytarabine + daunorubicin + homoharringtonine) induction therapy, of whom 2 achieved CR after two courses and underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT), resulting in an overall CR rate of 42.86%. Five children did not receive allo-HSCT and had a median overall survival of 9 months (range: 6 ~ 18 months). Two children who underwent transplantation achieved bone marrow morphological and molecular biological relapse at 6 and 9 months post-transplantation, respectively. After receiving combined chemotherapy and donor lymphocyte infusion, one child failed to achieve remission and died at 22 months post-transplantation, while the other has been followed up to date with positive fusion gene status. Their overall survival was 25 months and 30 months, respectively. CONCLUSION The t(16;21)(p11;q22) FUS::ERG fusion gene is rare in pediatric AML and associated with poor prognosis. Allo-HSCT may mitigate the adverse prognostic impact of the FUS::ERG fusion gene and contribute to prolonged survival.
Humans ; Male ; Child ; Female ; Leukemia, Myeloid, Acute/drug therapy* ; Oncogene Proteins, Fusion/genetics* ; Translocation, Genetic ; Retrospective Studies ; RNA-Binding Protein FUS/genetics* ; Chromosomes, Human, Pair 16/genetics* ; Adolescent ; Child, Preschool ; Chromosomes, Human, Pair 21/genetics* ; Prognosis ; Treatment Outcome

OBJECTIVE: To summarize the clinical features and management of two brothers affected with X-linked inhibitor of apoptosis protein (XIAP) deficiency. METHODS: This study retrospectively analyzed the clinical presentations, treatment, and follow-up of two brothers with XIAP deficiency diagnosed at Shanghai Children's Hospital in 2020, and summarized similar cases recorded in databases such as PubMed, Wanfang, Chinese Medical Association Journals, and WIP from January 2006 to November 2024. This study was approved by the Medical Ethics Committee of our hospital (Ethics No.: 2025R128-E01). RESULTS: Patient 1 was the younger brother, who presented at 8 years of age with growth retardation, folliculitis, erythema nodosum, and perineal abscess. Sequencing revealed that he has carried a hemizygous c.566T>C (p.Leu189Pro) variant of the XIAP gene, which was inherited from his mother. He was allergic to infliximab treatment and underwent allogeneic stem cell transplantation (HSCT) in January 2021. During a follow-up of 3 years and 10 months post-transplantation, he showed no gastrointestinal symptoms and had a good outcome. Patient 2 was the elder brother, who presented at 10 years and 6 months of age with growth retardation, rash, and anal fistula. Genetic testing revealed the same variant. He was treated with oral azathioprine but did not have regular follow-ups. At 14-years-and-6-months of age, he had developed severe gastrointestinal infection and hemophagocytic lymphohistiocytosis, which was alleviated after treatment with antibiotics, glucocorticoids, immunoglobulin, and rituximab. He is currently being prepared for HSCT. A total of 13 publications were retrieved, which involved 64 patients from 23 families, with 23 different variants identified. The main clinical manifestations included splenomegaly (34 cases, 53.1%), hemophagocytic lymphohistiocytosis (27 cases, 42.2%), and inflammatory bowel disease or colitis (20 cases, 31.8%). There were significant phenotypic differences among patients from the same family. Thirteen patients (20.3%) underwent HSCT, with a survival rate of 61.5%. CONCLUSION For male children with early onset, poor treatment response, especially those with unexplained splenomegaly and IBD-like symptoms, early genetic testing is recommended. HSCT is a safe and effective treatment for XIAP deficiency. For patients with developmental delay, early onset, and severe IBD phenotype, early transplantation is recommended.
Humans ; Male ; X-Linked Inhibitor of Apoptosis Protein/deficiency* ; Child ; Genetic Diseases, X-Linked/therapy* ; Phenotype ; Siblings ; Retrospective Studies ; Hematopoietic Stem Cell Transplantation

Polycystic kidney disease (PKD) is a group of inherited disorders characterized by cystic lesions in the kidneys and multiple organs, primarily including autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive polycystic kidney disease (ARPKD). ADPKD is mainly caused by variations in the PKD1 and PKD2 genes. Its clinical manifestations include progressive renal cyst growth, hypertension, and multi-system complications. ARPKD, on the other hand, is primarily caused by mutations in the PKHD1 gene. It commonly occurs in infants and young children, with hepatorenal cystic fibrosis being a key feature. Although there is currently no cure for PKD, the integration of multi-omics and precision medicine strategies holds promise for optimizing patient management and improving outcomes in the future. This review summarizes the genetic basis, pathogenic mechanisms, diagnostic techniques, and therapeutic advances in PKD, providing a reference for clinical practice and research.
Humans ; Polycystic Kidney Diseases/genetics* ; TRPP Cation Channels/genetics* ; Mutation ; Polycystic Kidney, Autosomal Dominant/therapy* ; Receptors, Cell Surface

Pediatric acute liver failure (PALF) is a rare and critical clinical syndrome with a poor prognosis. Its etiology is complex, with a significant proportion of cases having remained classified as indeterminate or cryptogenic PALF. With the application of high-throughput sequencing technologies, a spectrum of disorders caused by specific genetic metabolic defects and characterized by stress-sensitive Recurrent acute liver failure (RALF) has been gradually unveiled, collectively termed Infantile liver failure syndrome (ILFS). Although the molecular mechanisms underlying the subtypes ILFS1, ILFS2, and ILFS3 differ by involving aminoacyl-tRNA synthetase defects, vesicular transport disorders, and autophagy abnormalities, respectively, they share a common clinical phenotype of RALF triggered by fever or infection. This article has systematically reviewed the clinical phenotypic spectrum, molecular genetic characteristics, differential diagnosis strategies, and therapeutic advances of the three ILFS subtypes, with the goal of improving early clinical recognition and precise intervention, and providing an important reference for evaluating the prognosis of different subtypes.
Humans ; Liver Failure, Acute/therapy* ; Infant ; Diagnosis, Differential

BACKGROUND

In the context of acute psychiatric care characterized by severe hallucinatory symptoms, providing timely and effective interventions poses challenges. Therapy administered by Mental Health Nurses (TKN) emerges as a promising solution to comprehensively address these acute symptoms. This therapeutic approach is designed to alleviate hallucination symptoms during the acute phase.

This study aimed to investigate the effectiveness of Therapy administered by Mental Health Nurses (TKN) as an intervention tailored for individuals facing acute hallucinatory challenges. The overarching goals include exploring the therapeutic dimensions of the intervention, assessing the potential for tailored interventions based on demographic factors, and translating findings into practical implications for mental health professionals.

This study used a quasi-experimental design with a one-group pre-post-test structure. A total of 117 participants diagnosed with schizophrenia from outpatient psychiatric wards were selected in community setting, excluding individuals with concurrent mental retardation to maintain sample homogeneity. Data collection, conducted over two months from July to August 2023, included a pre-test assessment before any intervention to establish baseline hallucinatory symptoms. Therapy by Mental Health Nurses (TKN) was administered over two weeks, consisting of four 30- to 45-minute sessions for each participant. After each session, participants underwent reassessment for hallucinatory symptoms, totaling five assessments. Psychotic Syndrome Rating Scale (PSYRAT) was used to measure hallucination scores. The data analysis employed paired t-tests for baseline and post-intervention scores within a two-week period. A Repeated Measures Analysis of Variance (ANOVA) assessed the effect of interventions on hallucination scores, with age, gender, and adherence status as factors. Post hoc analyses, including pairwise comparisons, identified specific subgroup differences and assessed the time effect within the same group.

The study cohort primarily consisted of adults (90.6%), maintaining a balanced gender distribution with 51.3% males and 48.7% females. A substantial portion had low educational backgrounds (59%), and the majority were unemployed (87.2%), with family members serving as the predominant primary caregivers (87.2%). Regarding medication adherence, over half adhered to the prescribed regimen (52.1%). Results demonstrated an improvement in hallucination symptoms for adolescents and the elderly compared to adults. While gender and adherence status did not individually influence symptoms significantly, age category emerged as a significant contributing factor (F = 3.991, p = 0.021). Interaction effects emphasized the substantial influence of time on symptom shifts over the intervention (F = 24.164, p < 0.001). Particularly, the mean difference of 4.636 (p < 0.001) from Time 1 to Time 5 signified a substantial decrease in hallucination scores, highlighting the cumulative impact of the therapy. These findings underscore the effectiveness of Therapy administered by Mental Health Nurses (TKN) across diverse demographic factors, providing valuable insights for tailored interventions in psychiatric emergencies.

Therapy administered by Mental Health Nurses (TKN) demonstrates effectiveness in reducing schizophrenia symptoms, especially among adolescents and the elderly. The impact of time on the intervention's effectiveness is notable, with a cumulative effect observed over the intervention period. Sustained and consistent engagement with the therapy leads to more substantial improvements in hallucination symptoms. Therefore, tailored interventions considering age are crucial for optimal effectiveness. This understanding enables practitioners to optimize the therapy schedule, aligning it with the natural progression of symptom alleviation.

BACKGROUND

The Ifontok people are an ethnolinguistic group in the Mountain Province of the Philippines, for whom constructing and occupying a new house symbolizes the fulfillment of personal aspirations and reflects cultural traditions and beliefs that shape community life, worldviews, and social behavior.

This study examined the house construction rituals of the Ifontok people and their influence on health beliefs, highlighting the interconnectedness of culture, environment, and well-being.

A qualitative ethnographic design was employed. Six participants were interviewed between February 2021 and June 2022 until data saturation was reached. Colaizzi’s seven-step method was used for the systematic analysis of cultural experiences.

The Ifontok perform rituals before, during, and after house construction, as well as upon occupying a new home. Rooted in traditional beliefs, these rituals aim to ensure structural stability, invite prosperity, and safeguard holistic health. Beyond their symbolic function, the rituals serve as rites of passage that foster psychological reassurance, emotional resilience, and social cohesion. They frame health as a balance of physical, mental, and spiritual well-being, while adaptive strategies address challenges in sustaining these practices amid modern influences.

Ifontok house construction rituals integrate practical building practices, spiritual beliefs, and communal welfare. They promote mindful living, psychological well-being, and environmental awareness, offering insights for educators and healthcare practitioners working with Indigenous communities.

Artificial intelligence (AI) and generative artificial intelligence (GenAI) have gained increasing relevance in occupational therapy (OT) due to their potential to enhance clinical practice, optimize client care, and shape the future of OT education. Despite growing international evidence, literature addressing AI use in OT remains limited in the Philippine context. This Special Collection on AI in Occupational Therapy seeks to address this gap by examining the perspectives and experiences of key stakeholders across OT education and practice through a stakeholder-informed qualitative approach. Using interviews and focus group discussions, insights from school administrators, OT educators, interns, students, and clinicians are gathered to explore their attitudes, concerns, and lived experiences related to AI use in occupational therapy. These multi-perspective findings aim to inform the development of contextually grounded frameworks, institutional policies, and evidence-based programs that support ethical, sustainable, and meaningful integration of AI in OT education and practice within the local setting.

BACKGROUND

Artificial Intelligence (AI) is increasingly transforming various fields, including healthcare. In occupational therapy (OT), Generative AI (GenAI) holds promise for enhancing clinical practice and patient outcomes. However, its successful integration depends not only on technological advancements but also on the perceptions, acceptance, and experiences of clinicians. Despite global interest, limited research exists on the perspectives of OT practitioners in the Philippines.

A qualitative study will be conducted with a theoretical sample of 15 OT clinicians actively working across Metro Manila who are familiar with AI, excluding those in academic roles. The Technology Acceptance Model (TAM) will be used as a guiding framework to understand OT clinicians' attitudes towards the usage of GenAI. After a successful pilot test, one-on-one semi-structured interviews will be
conducted online. Data will be thematically analyzed using NVivo 15, following a coding framework

A qualitative study will be conducted with a theoretical sample of 15 OT clinicians actively working across Metro Manila who are familiar with AI, excluding those in academic roles. The Technology Acceptance Model (TAM) will be used as a guiding framework to understand OT clinicians' attitudes towards the usage of GenAI. After a successful pilot test, one-on-one semi-structured interviews will be
conducted online. Data will be thematically analyzed using NVivo 15, following a coding framework

The study is expected to provide insights into the familiarity, experiences, attitudes, and intentions of OT clinicians in Metro Manila regarding AI use in clinical practice. Findings may identify perceived benefits, concerns, ethical and practical considerations, and factors influencing the adoption of AI, highlighting opportunities and barriers for its responsible integration into OT practice.