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

Acute pancreatitis (AP) is a severe inflammatory disease characterized by self-digestion of pancreatic tissue and inflammatory responses. Recent studies have revealed a close connection between gut microbiota and AP. The gut microbiota community, a complex ecosystem composed of trillions of microorganisms, is closely associated with various physiological activities of the host, including metabolic processes, immune system regulation, and intestinal structure maintenance. However, in patients with AP, dysbiosis of the gut microbiota are believed to play a key role in the occurrence and progression of the disease. This dysbiosis not only impairs the integrity of the intestinal barrier, but may also exacerbate inflammatory responses through multiple mechanisms, thereby affecting the severity of the disease and patient' clinical prognosis. This article reviews the mechanisms of action of gut microbiota in AP, explores how gut microbiota dysbiosis affects disease progression, and evaluates current clinical treatment methods to regulate intestinal flora, including probiotic supplementation, fecal microbiota transplantation, antibiotic therapy, and early enteral nutrition. In addition, this article discusses the efficacy and safety of the aforementioned therapeutic approaches, and outlines future research directions, aiming to provide novel perspectives and strategies for the diagnosis, treatment and prognostic evaluation of AP. Through in-depth understanding the interaction between gut microbiota and AP, it is expected that more precise and personalized therapeutic regimens will be developed to improve patients' quality of life and clinical outcomes.
Humans ; Gastrointestinal Microbiome ; Dysbiosis ; Pancreatitis/microbiology* ; Fecal Microbiota Transplantation ; Probiotics/therapeutic use* ; Acute Disease ; Anti-Bacterial Agents/therapeutic use* ; Enteral Nutrition

OBJECTIVE: To compare the therapeutic efficacy of portal and tail vein transplantation of bone marrow-derived mesenchymal stem cells (BMSCs) against cholestatic liver fibrosis in mice. METHODS: BMSCs were isolated and co-cultured with starvation-activated hepatic stellate cells (HSCs). HSC activation markers were identified using immunofluorescence and qRT-PCR. BMSCs were injected into the liver tissues of bile duct ligation (BDL) mice via the tail and portal veins. Histomorphology, liver function, inflammatory cytokines, and the expression of key proteins were all determined in the liver tissues. RESULTS: BMSCs inhibited HSC activation by reducing α-SMA and collagen I expression. Compared to tail vein injection, DIL-labeled BMSCs injected through the portal vein maintained a high homing rate in the liver. Moreover, BMSCs transplanted through the portal vein resulted in greater improvement in liver color, hardness, and gallbladder size than did those transplanted through the tail vein. Furthermore, BMSCs injected by portal vein, but not tail vein, markedly ameliorated liver function, reduced the secretion of inflammatory cytokines, including TNF-α, IL-6, and IL-1β, and decreased α-SMA + hepatic stellate cell (HSC) activation and collagen fiber formation. CONCLUSION The therapeutic effect of BMSCs on cholestatic liver fibrosis in mice via portal vein transplantation was superior to that of tail vein transplantation. This comparative study provides reference information for further BMSC studies focused on clinical cholestatic liver diseases.
Animals ; Mice ; Mesenchymal Stem Cell Transplantation ; Liver Cirrhosis/etiology* ; Male ; Cholestasis/therapy* ; Mice, Inbred C57BL ; Hepatic Stellate Cells ; Mesenchymal Stem Cells

OBJECTIVES: To study the clinical effect of the L-shape technique combined with concentrated growth factor on the horizontal bone defects of maxillary anterior teeth. METHODS: Twenty-five implants from 25 patients who underwent single maxillary anterior tooth implantation with simultaneous bone grafting were selected as the study subjects. Based on the bone grafting techniques, the patients were divided into a test group (L-shaped technique with guided bone regeneration combined with concentrated growth factor, 11 cases) and a control group (traditional guided bone regeneration combined with concentrated growth factor, 14 cases). The early discomfort and wound healing conditions in the two groups at two weeks after surgery were compared. The horizontal bone thickness, vertical bone thickness, and grayscale values in the augmentation area were measured immediately postsurgery and six months after surgery. Implant stability, hard tissue resorption within six months, and grayscale values were compared between the two groups. RESULTS: Differences in early discomfort, wound healing, implant stability, and grayscale values between the two groups were not statistically significant (P>0.05). Vertical bone thickness in the test group was significantly better than that in the control group at six months after surgery (P<0.05). The variation in horizontal bone thickness in the test group was significantly higher than that in the control group (P<0.05). CONCLUSIONS The application of the L-shape technique with concentrated growth factor for horizontal bone defects in the anterior maxillary area yielded satisfactory short-term results in terms of bone augmentation, early discomfort, wound healing, and implant stability at six months after surgery.
Humans ; Maxilla/diagnostic imaging* ; Intercellular Signaling Peptides and Proteins/therapeutic use* ; Wound Healing ; Bone Transplantation/methods* ; Dental Implantation, Endosseous/methods* ; Bone Regeneration ; Male ; Female ; Adult ; Dental Implants, Single-Tooth ; Middle Aged

OBJECTIVES: To investigate the clinical application of the digital-assisted reconstruction of the mandible and tumors with free fibula transplantation and immediate implantation via the intraoral approach. METHODS: Twelve patients with benign mandibular tumors were collected. Three-dimensional mandibular reconstruction was performed digitally before surgery to simulate mandibular tumor resection, fibula resection and reconstruction, and implant implantation. The intraoperative resection of the mandibular tumor was conducted through the intraoral approach under the guidance of a guide plate, and fibula resection, molding, reconstruction, and oral fixation were immediately performed. Implant implantation was performed during the second phase of implant surgery and denture restoration was performed 1-2 months after surgery. RESULTS: The types of mandibular defects were BrownⅠ (one case), Ⅰc (four cases), Ⅱ (one case), Ⅱc(three cases), and Ⅲ (three cases). The length of the fibular bone was 12-22 cm. The number of fibular molding amputations was as follows: two cases in two segments, six cases in three segments, three cases in four segments, and one case in five segments. All of these cases underwent folding fibular reconstruction of mandibular and alveolar bone defects. A total of 44 implants were implanted, and none failed after operation. CONCLUSIONS The intraoral approach is a reliable method for the resection of mandibular benign tumors, with few postoperative complications and the ability to position and fix accurately the reconstructed folded fibula under digital design. The immediate implantation of the transplanted fibula does not affect the blood supply and has a high success rate. It is an effective and reliable method for the resection and reconstruction of mandibular benign tumors.
Humans ; Fibula/transplantation* ; Mandibular Neoplasms/surgery* ; Mandibular Reconstruction/methods* ; Bone Transplantation/methods* ; Male ; Middle Aged ; Female ; Mandible/surgery* ; Adult ; Free Tissue Flaps ; Surgery, Computer-Assisted

OBJECTIVES: This study aims to evaluate the short- to medium-term clinical efficacy of demineralized dentin matrix (DDM) particles applied during the immediate implantation of alveolar bone defects in the posterior region. METHODS: A total of 76 patients with 110 simple taper retentive implants were included in the conducted study and divided into Groups A and B in accordance with the bone grafting materials. Cone beam computed tomography and panoramic radiographs were taken immediately after implant surgery, immediate crown repair, and final follow-up time. The average follow-up time for Groups A and B was recorded. The primary observed clinical indicators were overall survival rate of the implant, bone resorption of the mesial and distal margins of the implant, buccal bone width resorption at the platform level and 1 mm below the platform, and bone height of the implant. Implant complication was a secondary observed clinical indicator. RESULTS: During the 1-to-5-year follow-up observation period, the mean follow-up of Group A was 38.2 months while that of Group B was 39.9 months. In Group A, two implants failed, one of which fractured, and implant overall survival rate was 96.4%. Four implants failed in Group B due to peri-implantitis, and implant overall survival rate was 92.6%. No statistically significant difference in implant overall survival rate was found between the two groups (P>0.05). In Group A, the average bone resorption in the mesial and distal margins of the implants was (1.011±2.047) mm and (0.841±2.183) mm, respectively. In Group B, the average bone resorption of the mesial and distal margins of the implants was (1.546±1.778) mm and (1.431±1.909) mm, respectively. No statistically significant difference was noted between the two groups (P>0.05). In Group A, buccal bone width resorption at the platform level and 1 mm below the platform of the implant was (0.782±2.084) mm and (0.681±2.307) mm, respectively. In Group B, buccal bone width resorption at the platform level and 1 mm below the platform of implant was (1.071±1.474) mm and (0.949±1.909) mm, respectively. No statistically significant difference was found between the two groups (P>0.05). In Group A, the buccal bone height of resorption of the implant was (1.044±2.214) mm. In Group B, the buccal bone height of resorption of the implant was (1.075±1.456) mm. No statistically significant difference in bone height was observed between the two groups (P>0.05). CONCLUSIONS During the 1-to-5-year follow-up observation period, DDM particles can effectively increase the height and width of alveolar bone, and they can achieve the same effect of maintaining alveolar bone contour and bone augmentation compared with deproteinized inorganic calf bone. DDM particles can be used as a potential new bone grafting material for the treatment of bone defects in clinical practice.
Humans ; Follow-Up Studies ; Dentin ; Cone-Beam Computed Tomography ; Dental Implants ; Male ; Female ; Adult ; Alveolar Bone Loss/surgery* ; Middle Aged ; Bone Transplantation ; Radiography, Panoramic ; Dental Implantation, Endosseous/methods* ; Immediate Dental Implant Loading

Bone grafting is a primary method for treating bone defects. Among various graft materials, xenogeneic bone substitutes are widely used in clinical practice due to their abundant sources, convenient processing and storage, and avoidance of secondary surgeries. With the advancement of domestic production and the limitations of imported products, an increasing number of bone filling or grafting substitute materials isentering clinical trials. Relevant experts have drafted this consensus to enhance the management of medical device clinical trials, protect the rights of participants, and ensure the scientific and effective execution of trials. It summarizes clinical experience in aspects, such as design principles, participant inclusion/exclusion criteria, observation periods, efficacy evaluation metrics, safety assessment indicators, and quality control, to provide guidance for professionals in the field.
Humans ; Bone Substitutes/therapeutic use* ; Randomized Controlled Trials as Topic/methods* ; Consensus ; Bone Transplantation ; Research Design

In recent years, digital bone harvesting and grafting technology in dental implantology has emerged as a cutting-edge advancement in the field of oral medicine, gaining widespread application in the treatment of complex bone defect cases. By integrating digital imaging, virtual design, and precise surgical guidance, this technology has significantly enhanced the success rate of dental implants and improved patient outcomes. However, the rapid development of this technology has also highlighted the lack of standardized clinical protocols, necessitating the establishment of unified guidelines through expert consensus. This article provides a detailed overview of the development process of the group standard Clinical Protocol for Bone Harvesting and Grafting under Digital Guidance in Oral Implantology and offers an in-depth interpretation of its key components, aiming to serve as a valuable reference for clinical practice and academic research.
Humans ; Bone Transplantation/methods* ; Surgery, Computer-Assisted/methods* ; Dental Implantation/methods* ; Tissue and Organ Harvesting/methods* ; Clinical Protocols