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

Introduction: New-onset diabetes after transplantation (NODAT) is a clinically significant complication associated with adverse metabolic and graft outcomes and affects patients’ quality of life. Data in paediatric populations are limited. This case series describes the incidence, clinical characteristics, and early outcomes of NODAT in a paediatric kidney transplant cohort. Cases: Thirty patients (aged 5–17 years; 16 males, 14 females; 14 Malay, 15 Chinese, 1 Indian) underwent renal transplantation at Hospital Tunku Azizah between 2019 and 2025. NODAT was identified using standard diagnostic criteria and occurred in four patients (13.3%). Among patients who developed NODAT, three were Malay and one Chinese; all were aged 10–17 years, with a predominance of females (n = 3). All were non-obese (body mass index [BMI]: 11–21.4 kg/m²), and only one had a family history of type 2 diabetes mellitus. Underlying causes of ESRF in these patients included focal segmental glomerulosclerosis (FSGS, n = 2), CAKUT (n = 1), and unknown etiology (n = 1). Two patients received kidneys from living donors, and two from cadaveric donors. Two patients demonstrated reduced C-peptide levels, consistent with impaired insulin secretion. All patients received steroid induction and maintenance therapy alongside tacrolimus-based immunosuppression, with one patient also receiving everolimus. Two patients developed post-transplant CMV viremia, which has been associated with NODAT. The onset of NODAT was early, occurring within 2 weeks post-transplant in three patients and at 1 month in one patient. Insulin therapy achieved glycemic control in all cases. Two patients were able to discontinue insulin within 3–4 months, suggesting recovery of endogenous glycemic regulation, while the remaining two required ongoing insulin therapy. Conclusion NODAT affects a substantial proportion of paediatric kidney transplant recipients and may present despite the absence of conventional risk factors. Early surveillance is essential. The observed potential for insulin independence may indicate a reversible component of β-cell dysfunction, which warrants further investigation in larger cohorts.
Child ; Kidney Transplantation ; Hospitals

BACKGROUND : Kidney transplantation improves survival and quality of life in end-stage renal disease. However, intraoperative hypotension remains common and may reduce graft perfusion. The optimal intraoperative blood pressure (BP) target remains unclear. This study aimed to evaluate the association between intraoperative BP trends and kidney transplant outcomes. METHODS : A retrospective cohort study was conducted among adult living donor kidney transplant recipients (≥18 years) at Cipto Mangunkusumo Hospital, Jakarta, Indonesia, from July 2023–April 2025. Intraoperative BP was recorded every 15 min to calculate average, minimum, and hourly systolic blood pressure (SBP), diastolic blood pressure, and mean arterial pressure (MAP). The primary outcomes were 3-month mortality, delayed graft function (DGF), and acute allograft rejection. Secondary outcomes included early graft function parameters, including serum creatinine levels, estimated glomerular filtration rate (eGFR), and time to first diuresis. Associations between BP and outcomes were analyzed using multivariate logistic regression in SPSS software version 27.0, with p<0.05 considered significant. RESULTS : Of 79 transplant recipients, the 3-month mortality was 6.3%, DGF was 7.6%, and acute rejection was 3.8%. Lower intraoperative MAP was associated with increased odds of DGF, with MAP <80 mmHg showing the strongest association (odds ratio [OR]: 88.239; 95% confidence interval [CI]: 2.720–2,092.86). Each 10-mmHg increase in overall SBP was associated with a reduction in the odds of DGF (OR: 0.360; 95% CI: 0.155–0.838). No BP measures were linked to serum creatinine levels (p = 0.083–0.271) or eGFR (p = 0.151–0.791). CONCLUSIONS Lower intraoperative MAP and SBP were associated with higher odds of DGF, highlighting the importance of maintaining adequate BP to optimize kidney transplant outcomes.
blood pressure ; delayed graft function ; graft rejection ; kidney transplantation ; mortality

Mantle cell lymphoma (MCL) is a rare B-cell lymphoma characterized by both the incurable nature of indolent lymphomas and the clinical course of aggressive lymphomas. The integration of high-dose cytosine arabinoside (Ara-C) and autologous hematopoietic stem cell transplantation (ASCT) has led to substantial improvement in the outcomes of MCL patients in the immunochemotherapy era. More recently, the widespread use of small molecule targeted agents, particularly Bruton tyrosine kinase inhibitor (BTKi), has re-shaped the therapeutic landscape of MCL patients and challenged the traditional role of high-dose Ara-C and ASCT. Novel immunotherapies including bi-specific antibodies and chimeric antigen receptor T-cell (CAR-T) therapy have emerged as important treatment options for MCL patients with relapsed or refractory disease. With advances in multi-omics profiling, the development of personalized, potentially curative strategies based on individual genetic and immune features is expected to become a major focus of future research on MCL. This article will delve into the latest research progress in the treatment and genetics and translational research on MCL patients, focusing on the latest progress of research on the treatment of newly diagnosed MCL patients, treatment of relapsed/refractory MCL patients, and the genetics and translational treatment of MCL patients, and explore the evolution and future direction of its treatment model.
Humans ; Lymphoma, Mantle-Cell/immunology* ; Translational Research, Biomedical ; Hematopoietic Stem Cell Transplantation ; Immunotherapy

The most common cause of mortality after a kidney transplant is a cardiovascular event. This is why most patients with poor cardiovascular status are denied a transplant. A 70-year-old male, ESRD from hypertensive nephropathy, was declined renal transplantation in the United States for advanced age, severe coronary disease and abdominal aortic aneurysm. The patient sought a second chance at a possible transplantation here in the Philippines. After a comprehensive cardiovascular evaluation, he underwent coronary artery bypass graft for a three-vessel disease followed by endovascular aneurysm repair (EVAR) which he tolerated well. After four weeks, he underwent a living-related kidney transplantation with immediate allograft function. On postoperative day 5, after catheter removal, the patient was unable to void spontaneously. He was diagnosed with benign prostatic obstruction and underwent transurethral resection of the prostate. He tolerated this and voided freely since catheter removal. One year later, the patient has a functioning allograft and stable cardiac status. High risk patients with cardiovascular disease may be given a chance at kidney transplantation after a meticulous evaluation and optimization.

Human ; Male ; Aged: 65-79 Yrs Old ; Evar ; Allografts ; Aneurysm ; Aortic Aneurysm ; Aortic Aneurysm, Abdominal ; Arteries ; Cardiovascular Diseases ; Catheters ; Coronary Artery Bypass ; Disease ; Coronary Disease ; Endovascular Aneurysm Repair ; Evaluation Studies As Topic ; Kidney ; Kidney Failure, Chronic ; Kidney Transplantation ; Male ; Mortality ; Patients ; Philippines ; Prostate ; Risk ; Transplantation ; Transplants ; United States

This reflective narrative chronicled a nurse's lived experience in bridging grief and hope through the Eye Tissue Retrieval Program of Baguio General Hospital and Medical Center (BGHMC), the first eye bank in the Cordillera region. Anchored in compassion, cultural sensitivity, and indigenous values, the story illuminated how nursing care extends beyond clinical practice to embrace empathy, ethics, and human connection. Drawing from real encounters with donor families, the article highlighted how nurses facilitate the transformation of loss into legacy, and sorrow into service. Challenges encountered—such as cultural beliefs, time constraints in tissue retrieval, and limited awareness—were discussed in the context of eye-banking practices in developing countries. The narrative concluded by honoring the courage of donors and their families, while underscoring the enduring role of nurses as healers, advocates, and bridges of light in the journey from grief to sight.

Human ; Eye Banks ; Corneal Transplantation ; Philippines

BACKGROUND

Worldwide, kidney transplantation is done as a renal replacement therapy for end-stage kidney disease patients. Lymphocoele is a common complication following renal transplantation, with an incidence varying between 0.6% and 33.9%. The use of the electrothermal bipolar sealing device (LigaSure) has proven superior to other vessel sealing techniques in several reports. As such, LigaSure device is expected to provide an alternative method to the standard silk-tie method during kidney transplantation.

OBJECTIVES

To describe our experience on using Ligasure device in kidney transplantation at the National Kidney and Transplant Institute.

METHODS

A prospective descriptive cross sectional research design among patients who underwent iliac vessel dissection using Ligasure device during kidney transplantation. Clinical outcomes were determined including operative time during iliac vessel dissection using LigaSure device, total and average JP drain output. Incidence of lymphocoele was observed by performing an allograft ultrasound on post operative day 14, 60 and 90.

RESULTS

Ultrasonographically, none of the patients in this study developed a lymphocele. Average use of Ligasure device during iliac vessel dissection was 16.92 minutes. Average daily JP drain output was 123mL and average JP drain output prior to JP drain removal was 25.44mL.

CONCLUSION

We did not observe any incidence of lymphocoele among patients wherein Ligasure device was used during iliac vessel dissection. Routine use of Ligasure device can be done without the risk of lymphocoele formation and can serve as an alternative from the traditional silk-tie method during iliac vessel dissection.

Human ; Kidney ; Kidney Diseases ; Kidney Failure, Chronic ; Kidney Transplantation ; Renal Replacement Therapy

OBJECTIVE

To describe a practical surgical approach for mastoid cavity obliteration and canal wall reconstruction using autologous bone dust and conchal cartilage applied either during primary canal wall up (CWU) surgery or in revision of prior canal wall down (CWD) mastoid cavities, with the aim of restoring a self-cleaning, waterproof ear that retained its natural acoustic resonance.

METHODS

The indications, surgical technique, and follow up and imaging surveillance were described, detailing patient selection, harvesting and application of autologous materials, and the key technical steps for cavity obliteration and posterior canal wall reconstruction. The importance of preserving the ear canal’s standing wave resonance (~2000–2500 Hz) for optimal hearing was emphasized. Postoperative monitoring with non-echo planar diffusion-weighted imaging (DWI) MRI was recommended at least 1.5 years after surgery to detect residual or recurrent cholesteatom.

RESULTS

This technique was performed successfully in 88 patients (32 males and 56 females, aged 6–80 years) across four hospitals in Metro Manila from January 2020 to July 2025. All patients had unremarkable postoperative courses and healed within three months. Among the 67 who underwent DWI MRI after 18 months, two required revision mastoidectomies with mastoid obliteration for cholesteatoma recidivism—one with residual and one with recurrent disease.

CONCLUSION

Mastoid obliteration and reconstruction using autologous bone dust and cartilage has proven to be a safe, effective and cost-efficient technique. It converts problematic open cavities into dry, self-cleaning ears suitable for swimming while preserving the acoustic benefits of a near-normal ear canal. Long-term follow-up with diffusion-weighted imaging (DWI) MRI is essential to ensure durable disease control.

Human ; Mastoidectomy ; Reconstructive Surgical Procedures ; Bone Transplantation ; Cartilage ; Cholesteatoma ; Ear, Middle ; Magnetic Resonance Imaging ; Postoperative Care ; Hearing

Severe combined immunodeficiency (SCID) represents a group of genetically heterogeneous disorders characterized by mutations that lead to profound defects in both humoral and cellular immunity. Transplacental maternal engraftment (TME) is a frequently observed complication in SCID. While most cases of SCID with TME exhibit no substantial impact on disease progression, a subset of patients may encounter diagnostic delays or therapeutic challenges due to TME interference. Furthermore, TME may predispose these individuals to graft-versus-host disease (GVHD) prior to hematopoietic stem cell transplantation, thereby increasing diagnostic complexity and treatment risks. This review systematically examines the etiology and clinical manifestations of SCID associated with TME, analyzes its implications for disease management, and evaluates current detection methodologies. The synthesized evidence provides a theoretical foundation for future research and offers potential insights into the clinical diagnosis and management of SCID associated with TME.
Humans ; Severe Combined Immunodeficiency/diagnosis* ; Pregnancy ; Female ; Hematopoietic Stem Cell Transplantation/adverse effects* ; Maternal-Fetal Exchange/immunology* ; Graft vs Host Disease/etiology* ; Animals ; Placenta/immunology*

PURPOSE: The purpose of this cadaveric study was to compare the volume and weight of bone graft harvested using the curettage vs. the trephination technique from the anterior iliac crest. METHODS: Embalmed cadavers were studied in this experimental research. The right hemipelvis of each cadaver was used for the trephine bone harvesting technique, whereas the left hemipelvis was used for the conventional curettage technique. The weight and the volume of the harvested bone were measured and statistically compared between the 2 sides. The Wilcoxon Signed-Rank test was employed to compare the graft volume and weight obtained from the right and left sides of the hemipelvis. RESULTS: Ten embalmed adult cadavers were used in this study. All subjects were Caucasian males with a mean age of 59.8 years (range 44 - 73 years) at the time of death. A total of 81 cylindrical bone grafts were harvested from the right iliac crest. In 9 out of 81 (11.1%), the cortex of the ilium was penetrated by the chisel. The mean weight of the bone graft harvested with the trephine technique (26.97 ± 2.32) g was heavier than that harvested with the curettage technique (23.74 ± 2.09) g (p = 0.007). Similarly, the volume of the bone graft was higher in the trephine technique (8.40 ± 0.84) cm³ compared to the curettage technique (6.60 ± 1.26) cm³ (p = 0.011). The trephination technique lasted a mean of (12.76 ± 1.87) min (range 10.30-16.10 min), while the curettage technique lasted a mean of (14.53 ± 0.89) min (range 13.50-16.00 min) (p = 0.028). CONCLUSION: Harvesting anterior iliac crest bone graft with the trephine technique provides a higher bone volume and weight than the conventional curettage technique. The trephine technique might be advocated over the curettage technique, especially when a large amount of autologous bone graft is required. However, a meticulous harvesting technique should be followed to prevent complications. In particular, the three-dimensional anatomy should be kept in mind, and the depth of trephination should be well-controlled. CLINICAL TRIAL REGISTRATION Institutional Review Board registration: 2022/499.
Humans ; Ilium/surgery* ; Male ; Middle Aged ; Aged ; Cadaver ; Curettage/methods* ; Tissue and Organ Harvesting/methods* ; Bone Transplantation/methods* ; Adult ; Trephining/methods*