1.Clinical efficacy analysis of seven pediatric patients with Acute myeloid leukemia and the t(16;21)(p11;q22) FUS::ERG fusion gene.
Lihuan SHI ; Shan HUANG ; Xing XIE ; Pengkai FAN ; Haili GAO ; Yanna MAO
Chinese Journal of Medical Genetics 2026;43(2):90-95
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
2.Primary aldosteronism in a Malaysian Tertiary Centre: A retrospective audit of clinical characteristics, diagnostic pathways, and treatment outcomes (2018–2025)
Ahmad Hambal Bin Zamari ; Yusniza Yusof
Journal of the ASEAN Federation of Endocrine Societies 2026;41(S1):19-20
Introduction:
Primary aldosteronism (PA) is a common yet underdiagnosed cause of secondary hypertension, associated
with increased cardiovascular and renal morbidity. Early
detection and subtype-directed management significantly
improve outcomes. However, adherence to recommended
diagnostic pathways in real-world practice remains
variable.
Case:
We conducted a retrospective audit of patients diagnosed
with PA in a Malaysian tertiary centre from January 2018
to December 2025. Data collected included demographics,
clinical presentation, biochemical parameters, diagnostic
workup (aldosterone-renin ratio [ARR], confirmatory
testing, adrenal imaging, and adrenal venous sampling
[AVS]), treatment modality, and outcomes. Audit standards
were based on established international guidelines.
A total of 14 patients were included, with equal gender
distribution. The cohort comprised 57% Malay and 43%
Chinese. Most patients presented with hypertension
(mean ~170/100 mmHg), and hypokalemia was present
in approximately 70% of the patients. ARR and adrenal
imaging were performed in all patients (100%), while
confirmatory testing was conducted in 85% of the patients.
However, AVS utilization remained limited (50%).
Contributing factors included failed cannulation, technical
challenges in overweight patients, preference for medical
therapy, refusal of surgery, and limited access to AVS
services. The majority had unilateral adrenal adenoma
(~75%). Treatment was divided between surgical (55%) and
medical (45%) approaches. Post-treatment, hypokalemia
resolved in 90% of patients, with a significant reduction
in antihypertensive burden and complete hypertension
resolution in approximately 35% of the patients. Quality of
life improved in most patients.
Conclusion
This audit demonstrates good adherence to initial screening
and imaging in PA but highlights suboptimal utilization
of AVS. Barriers to AVS utilization are multifactorial,
encompassing technical, patient-related, and system level limitations. Addressing these barriers is essential to
optimize subtype-directed management and improve longterm cardiovascular outcomes in patients with PA. Despite
this, clinical outcomes were favorable. Strengthening
adherence to diagnostic pathways, particularly subtype
confirmation, may further improve patient outcomes.
Hyperaldosteronism
;
Treatment Outcome
;
Retrospective Studies
3.Impact of Glycemic Control on Tuberculosis Treatment Outcomes in Patients With Diabetes Mellitus: A Retrospective Audit
Chitra Devi Balasubramaniyam ; Mohammad Ulilamri Tukiman ; Yusniza Yusoff ; Mohammad Nur Syafiq Mohammad Azman ; Choo Jia Qing
Journal of the ASEAN Federation of Endocrine Societies 2026;41(S1):37-38
Introduction:
Diabetes mellitus (DM) is a significant comorbidity
associated with adverse tuberculosis (TB) treatment
outcomes and remains an ongoing clinical challenge.
Chronic hyperglycemia impairs host immune responses,
particularly macrophage function, leading to delayed
bacillary clearance. This contributes to poorer outcomes,
including delayed sputum conversion, prolonged
treatment duration, relapse, and increased mortality. Poor
glycemic control is a key modifiable factor influencing
these outcomes. This study aimed to evaluate the impact
of glycemic control at diagnosis on TB treatment outcomes
in a Malaysian cohort.
Methodology:
A retrospective cross-sectional audit was conducted using
the TB clinic registry at Hospital Sungai Buloh from 2022
to 2025. Adult patients (≥18 years) with confirmed TB (any
form) and DM (Type 1 or Type 2) with complete records
were included. Of 241 patients screened, 131 were included
after exclusions due to incomplete records (29.9%), transfer
(29.9%), loss to follow-up (19.9%), and drug-resistant TB
(2.9%). Data collected included demographics, hemoglobin
A1c (HbA1c) at diagnosis, sputum conversion duration,
treatment duration, type of DM therapy, and clinical
outcomes.
Results:
The cohort had a mean age of 53 years, with 97% having
Type 2 DM.
Mean HbA1c at diagnosis was 10.5%. Poorer glycemic
control was associated with delayed sputum conversion.
Patients who achieved sputum conversion by 8 weeks had
an average HbA1c of 9.6%, compared to 11.8% in those
with delayed conversion. Longer treatment duration was
associated with higher HbA1c (mean 10.5, 8.6, and 11.8%
for 6-, 12-, and 18-month regimens, respectively). Relapse
analysis demonstrated a trend towards higher HbA1c with
increasing relapse episodes (11.2, 13.75, and 14.5% for one, two, and three relapses, respectively). Overall mortality
was 17% (22/131), with markedly higher mean HbA1c in
deceased patients compared to survivors (16.0% vs 10.5%).
Conclusion
Poor glycemic control at TB diagnosis is associated with
delayed sputum conversion, prolonged treatment duration,
and increased mortality. These findings are consistent with
regional evidence, including a South Asian systematic
review (Gautam et al., 2021), demonstrating higher mortality
and treatment failure in patients with TB and DM. Early
and aggressive optimization of glycemic control, alongside
standard anti-TB therapy, is essential to improve outcomes.
Humans
;
Glycemic Control
;
Retrospective Studies
;
Diabetes Mellitus
;
Treatment Outcome
;
Tuberculosis
4.Exploring the experiences of patients undergoing acupuncture at a community-based clinic using narrative analysis
Milagros B. Rabe ; Janelle P. Castro ; Macgerald V. Cueto ; Januario E. Sia-cunco ; Celso P. Pagatpatan jr.
Acta Medica Philippina 2025;59(Early Access 2025):1-15
BACKGROUND AND OBJECTIVES
Many patients have received acupuncture treatment to address various health problems and it has been presented in several studies to be effective. However, stories of patients on the use of acupuncture may present some additional information including contextual factors about acupuncture treatment. This study was conducted to explore experiences of patients in a community-based acupuncture clinic on the impact of acupuncture as a treatment modality. In particular, this study aimed to understand how acupuncture has changed patients’ lives through a life stories approach, describe how the treatment affected their perceptions about their well-being, and to elicit their views of the acupuncture as an alternative or complementary treatment.
METHODSA narrative inquiry was done using in-depth interviews individually conducted among eight participants, who were selected purposively based on having had at least 12 consecutive acupuncture sessions at a communitybased acupuncture clinic. All the interviews were audio-recorded and later transcribed by a professional external interviewer following written informed consent from all the participants. The research protocol was submitted and approved by the Ethics Review Committee of the University Research Institute for Health Sciences. The researchers analyzed the interview transcripts using Murray’s narrative analysis approach.
RESULTSParticipants’ stories highlighted their personal experiences of how they had come to know about acupuncture, how their experiences have changed their perceptions of the treatment, and how the outcomes of acupuncture treatment have affected their lives. The findings emphasize four narratives: pain relief, acupuncture being complementary to Western medicine, social support, and advocacy.
CONCLUSIONThis study emphasizes qualitative findings that are essential to be considered in the implementation of community-based acupuncture clinics that may help make acupuncture care accessible to community residents as well as maximize the potential of this treatment modality.
Human ; Infant: 1-23 Months ; Acupuncture Treatment ; Acupuncture Therapy
5.Exploring the experiences of patients undergoing acupuncture at a community-based clinic using narrative analysis.
Milagros B. RABE ; Janelle P. CASTRO ; Macgerald V. CUETO ; Januario E. SIA-CUNCO ; Celso P. PAGATPATAN JR.
Acta Medica Philippina 2025;59(20):25-39
BACKGROUND AND OBJECTIVES
Many patients have received acupuncture treatment to address various health problems and it has been presented in several studies to be effective. However, stories of patients on the use of acupuncture may present some additional information including contextual factors about acupuncture treatment. This study was conducted to explore experiences of patients in a community-based acupuncture clinic on the impact of acupuncture as a treatment modality. In particular, this study aimed to understand how acupuncture has changed patients’ lives through a life stories approach, describe how the treatment affected their perceptions about their well-being, and to elicit their views of the acupuncture as an alternative or complementary treatment.
METHODSA narrative inquiry was done using in-depth interviews individually conducted among eight participants, who were selected purposively based on having had at least 12 consecutive acupuncture sessions at a communitybased acupuncture clinic. All the interviews were audio-recorded and later transcribed by a professional external interviewer following written informed consent from all the participants. The research protocol was submitted and approved by the Ethics Review Committee of the University Research Institute for Health Sciences. The researchers analyzed the interview transcripts using Murray’s narrative analysis approach.
RESULTSParticipants’ stories highlighted their personal experiences of how they had come to know about acupuncture, how their experiences have changed their perceptions of the treatment, and how the outcomes of acupuncture treatment have affected their lives. The findings emphasize four narratives: pain relief, acupuncture being complementary to Western medicine, social support, and advocacy.
CONCLUSIONThis study emphasizes qualitative findings that are essential to be considered in the implementation of community-based acupuncture clinics that may help make acupuncture care accessible to community residents as well as maximize the potential of this treatment modality.
Human ; Infant: 1-23 Months ; Acupuncture Treatment ; Acupuncture Therapy
6.Successful treatment of disseminated tattoo-induced lichen planus with topical tacrolimus 0.1% ointment
Journal of the Philippine Dermatological Society 2025;34(2):97-100
Lichen planus (LP) is a chronic, immune-mediated dermatosis, clinically characterized by the classic “5 P’s”: pruritic, purplish, polygonal, planar papules, and plaques. While typically LP is idiopathic, the Koebner phenomenon may trigger LP by trauma, infections, medications, or foreign substances such as, in this case, tattoo pigments. A 27-year-old Filipino male presented with a 10-month history of intensely pruritic papules and plaques involving both tattooed and adjacent nontattooed regions of the forearms. Lesions initially appeared as papules along the tattoo margins approximately 1 year after tattoo placement and subsequently, spreading to form confluent plaques. Despite multiple courses of high-potency topical corticosteroids, symptoms persisted with progressive lesion thickening. Dermoscopy was performed, but the findings did not conclusively indicate LP; therefore, a biopsy was done to confirm LP. Owing to the extent of involvement and lack of steroid response, the therapy was transitioned to tacrolimus 0.1% ointment applied twice daily. The patient experienced a marked reduction in pruritus, flattening of papules, residual postinflammatory erythema, and no reported adverse effects within 2 weeks. This case highlights the therapeutic potential of topical calcineurin inhibitors in managing LP, particularly in cases where there is resistance to corticosteroids. Tacrolimus 0.1% ointment may present a safe and effective alternative for disseminated or steroid-refractory LP, warranting consideration in clinical practice.
Human ; Male ; Adult: 25-44 Yrs Old ; Adrenal Cortex Hormones ; Inflammation ; Lichen Planus ; Tacrolimus ; Treatment ; Tattoo
7.Significant motor recovery after ischemic stroke: A case report emphasizing the role of patient adherence and motivation in long-term rehabilitation
Annelyn Joseph A. Pensotes Jr. ; Noel D. Espallardo
The Filipino Family Physician 2025;63(2):172-175
Stroke remains a leading cause of long-term disability worldwide, demanding extensive and often prolonged rehabilitation. This case report describes the recovery of Mr. Julio, a 60-year-old male, who suffered an ischemic stroke at age 58, resulting in left-sided hemiparesis and balance issues. Even with delays in formal rehabilitation, he made a remarkable recovery over nearly three years. This is because of his strong intrinsic motivation, sustained adherence to therapy, and family support. His symptoms included left-sided weakness, numbness, vertigo, vomiting, and critically high blood pressure. Crucially, his diagnosis was confirmed by MRI only three months later and formal physical therapy started only after six months. Treatment included an emergency TPA, blood pressure control, antiplatelets, and a sustained home- based physical therapy regimen. This case highlights how patient-driven factors can lead to significant recovery even in resource-limited settings, emphasizing the role of motivation and adherence in long-term stroke rehabilitation.
Human ; Male ; Middle Aged: 45-64 Yrs Old ; Ischemic Stroke ; Treatment Adherence And Compliance ; Motivation
8.Clinical treatment strategy for pT3N0 laryngeal squamous cell carcinoma.
Chuan LIU ; Wei MA ; Zhihai WANG ; Yanshi LI ; Min PAN ; Quan ZENG ; Guohua HU
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2025;39(1):61-65
Objective:To investigate optimal treatment strategy for pT3N0 laryngeal squamous cell carcinoma(SCC). Methods:A retrospective study of 150 patients with pT3N0 laryngeal SCC treated in the First Affiliated Hospital of Chongqing Medical University was performed. The efficacies of partial laryngectomy and total laryngectomy, as well as surgery alone and postoperative radiotherapy were evaluated. The overall survival(OS), disease specific survival(DSS) and disease-free survival(DFS) were analyzed with statistical package from SPSS. Results:Among the 108 patients with glottic laryngeal SCC, there were no significant differences in OS, DSS and DFS between the partial laryngectomy group and the total laryngectomy group(Log-rank=0.184, 0.010 and 0.051, P>0.05). Similarly, there were no significant differences in OS, DSS and DFS between the surgery-alone group and postoperative radiotherapy group(Log-rank=0.214, 0.251 and 0.003, P>0.05). Among the 38 patients with supraglottic laryngeal SCC, the OS in the total laryngectomy group was significantly higher than that in the partial laryngectomy group(Log-rank=7.338, P=0.007). The DSS and DFS in the total laryngectomy group were higher than in the partial laryngectomy group, but the differences were not statistically significant(Log-rank=0.895 and 1.792; P>0.05). The DFS in the postoperative radiotherapy group was significantly higher than in the surgery-alone group(Log-rank=7.172, P=0.007), but there were no significant differences in OS and DSS between these two groups(Log-rank=0.010 and 0.876, P>0.05). Conclusion:For pT3N0 glottic laryngeal cancer patients, the efficacy of partial laryngectomy is comparable to total laryngectomy, same as surgery alone and postoperative radiotherapy. For pT3N0 supraglottic laryngeal cancer patients, total laryngectomy could improve the overall survival, and postoperative radiotherapy could reduce the recurrence. Prospectively randomized study with large samples is still needed.
Humans
;
Laryngeal Neoplasms/therapy*
;
Laryngectomy/methods*
;
Retrospective Studies
;
Carcinoma, Squamous Cell/surgery*
;
Male
;
Female
;
Middle Aged
;
Disease-Free Survival
;
Neoplasm Staging
;
Aged
;
Survival Rate
;
Treatment Outcome
9.The efficacy of vonoprazan fumarate in the treatment of laryngopharyngeal reflux disease evaluated by the Chinese version of the RSS-12 scale.
Chaorong BIAN ; Peng ZHOU ; Ping SHEN ; Yunpeng ZANG ; Wen LIU
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2025;39(1):66-76
Objective: To explore the efficacy of vonoprazan fumarate in the treatment of laryngopharyngeal reflux disease(LPRD) evaluated by the Chinese version of the RSS-12 scale. Methods:A total of 100 LPRD patients treated in the otolaryngology-head and neck surgery outpatient clinic of our hospital were randomly divided into two groups(50 cases each). The observation group was treated with vonoprazan fumarate(20 mg, once daily), and the control group was treated with esomeprazole enteric-coated capsules(20 mg, twice daily) for 12 weeks. The selected observation indicators in this study included RSI, the Chinese version of RSS-12, and RFS scores before and after treatment. Results:Prior to treatment, there was no statistically significant difference in the Chinese version of RSS-12, RSI, and RFS between the two groups(P>0.05). After 8 and 12 weeks of antacid treatment, both the Chinese version of RSS-12 and RSI significantly decreased in both group (P<0.05). The changes in symptoms were particularly noticeable between 0-8 weeks of treatment according to the Chinese version of RSS-12 and RSI. After 12 weeks of treatment, the RFS scores significantly decreased compared to pretreatment levels (P<0.05). After 12 weeks of antacid treatment, according to the Chinese version of RSS-12, 80% of patients in the observation group showed a good therapeutic response, compared to 64% in the control group; according to RSI, 90% of patients in the observation group showed a good therapeutic response, compared to 84% in the control group. There was no statistically significant difference in the treatment effect between the two groups after 12 weeks of treatment(P>0.05). Conclusion:Vonoprazan fumarate can significantly improve the symptoms and signs of laryngopharyngeal reflux, and their treatment effect is not inferior to proton pump inhibitors. Compared with RSI, the Chinese version of RSS-12 can serve as a new screening tool for clinical diagnosis of LPRD in China.
Humans
;
Sulfonamides/therapeutic use*
;
Male
;
Pyrroles/therapeutic use*
;
Female
;
Laryngopharyngeal Reflux/drug therapy*
;
Treatment Outcome
;
Middle Aged
;
Esomeprazole/therapeutic use*
;
Proton Pump Inhibitors/therapeutic use*
;
Adult
10.Experiences of poor recovery after total endoscopic middle ear surgery.
Jianyan WANG ; Gaihua CHANG ; Quanzhao ZHANG ; Yubin CHEN
Journal of Clinical Otorhinolaryngology Head and Neck Surgery 2025;39(1):77-83
Objective:To investigate the occurrence and managements of poor recovery after total endoscopic middle ear surgery. Methods:A total of 302 cases(315 ears) who underwent endoscopic middle ear surgery in our hospital from June 2020 to June 2021 were collected. Follow up by means of endoscopy, pure tone hearing threshold, tympanogram was conducted at 1 month, 3 months, 6 months and 1 year after surgery to analyze the incidence, possible causes, treatment strategies and effects of poor results tympanic membrane healing and hearing recovery. Results:Among 302 patients(315 ears) followed up, there were 28 cases with poor recovery. There were fourteen cases of poor eardrum healing, of which 10 cases achieved healing of eardrum after tympanic membrane patching in the outpatient department, with a success rate of about 71.4%. TM recurrence adhesion occurred in 4 cases after surgeries of cholesteatoma and adhesive otitis media. One case completely recovered after self eustachian tube insufflation, while 2 cases maintained the degree of eardrum subsidence, and one ineffective patient chose resurgical treatment, with an effective rate was 75.0%. Failure in hearing improvement occurred in 8 cases, all of which underwent second surgical exploration, and seven cases were improved after the second surgery, with an effective rate of 87.5%. Among the 8 patients with no improvement or aggravation of hearing loss after surgery, four cases had postoperative B-type or C-type of tympanogram, and the hearing could not improve after self eustachian tube insufflation for secondary surgical exploration. and the hearing improved after the secondary surgery. Incorrect orientation of ossicular prosthesis was accounted for another 2 cases, the hearing was improved after the ossicular orientation adjustment. One patient with lateral healing of TM and failed hearing recovery was corrected by a second operation. One case of tympanosclerosis underwent stapes release surgery, but hearing recovery still failed. One patient had recurrent postoperative cicatricial atresia of external auditory canal, and the patient was reluctant to undergo reoperation. Postoperative delayed facial paralysis occurred in 1 case, and the facial paralysis recovered recovered after conservative treatments. Conclusion:Eardrum patch and eustachian tube autoflation are simple and effective early outpatient treatment for patient with poor recovery. For those who failed with conservative treatments such as eardrum patch or eustachian tube and poor hearing recovery, the second surgical exploration is safe and effective. Regular follow up after endoscopic middle ear surgery is necessary for the managements of poor recovery.
Humans
;
Ear, Middle/surgery*
;
Female
;
Male
;
Endoscopy/methods*
;
Adult
;
Middle Aged
;
Tympanic Membrane/surgery*
;
Treatment Outcome
;
Hearing Loss/surgery*
;
Otologic Surgical Procedures/methods*
;
Otitis Media/surgery*
;
Eustachian Tube/surgery*


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