OBJECTIVES: To explore the risk factors for hemorrhagic cystitis (HC) in children with β-thalassemia major (TM) undergoing allogeneic hematopoietic stem cell transplantation (allo-HSCT). METHODS: A retrospective analysis was conducted on clinical data of 247 children with TM who underwent allo-HSCT at Shenzhen Children's Hospital from January 2021 to November 2022. The children were divided into an HC group (91 cases) and a non-HC group (156 cases) based on whether HC occurred after operation. Multivariable logistic regression analysis was used to explore the risk factors for HC, and the receiver operating characteristic curve was used to analyze the predictive efficacy of related factors for HC. RESULTS: Among the 247 TM patients who underwent allo-HSCT, the incidence of HC was 36.8% (91/247). Univariate analysis showed age, incompatible blood types between donors and recipients, occurrence of acute graft-versus-host disease (aGVHD), positive urine BK virus deoxyribonucleic acid (BKV-DNA), and ≥2 viral infections were associated with the development of HC after allo-HSCT (P<0.05). Multivariable analysis revealed that incompatible blood types between donors and recipients (OR=3.171, 95%CI: 1.538-6.539), occurrence of aGVHD (OR=2.581, 95%CI: 1.125-5.918), and positive urine BKV-DNA (OR=21.878, 95%CI: 9.633-49.687) were independent risk factors for HC in children with TM who underwent allo-HSCT. The receiver operating characteristic curve analysis showed that positive urine BKV-DNA alone or in combination with two other risk factors (occurrence of aGVHD, incompatible blood types between donors and recipients) had a certain accuracy in predicting the development of HC after allo-HSCT (area under the curve >0.8, P<0.05). CONCLUSIONS Incompatible blood types between donors and recipients, occurrence of aGVHD, and positive urine BKV-DNA are risk factors for HC after allo-HSCT in children with TM. Regular monitoring of urine BKV-DNA has a positive significance for early diagnosis and treatment of HC.
Humans ; Child ; Retrospective Studies ; beta-Thalassemia/therapy* ; Cystitis/epidemiology* ; Hematopoietic Stem Cell Transplantation/adverse effects* ; Risk Factors ; Hemorrhage/etiology* ; Graft vs Host Disease/complications* ; DNA ; Polyomavirus Infections/epidemiology*

Carcinoma, Merkel Cell/pathology* ; Humans ; Skin Neoplasms/pathology* ; Tongue ; Tongue Diseases

OBJECTIVE: To detect variant of the CD40L gene and infection of Jamestown Canyon virus (JCV) in a 7-year-and-9-month-old boy with co-commitment progressive multifocal leukoencephalopathy (PML) and X-linked hyper IgM syndrome (XHIGM). METHODS: Peripheral blood samples of the child and his parents were collected for the extraction of genomic DNA. The 5 exons and exon/intronic boundaries of the CD40L gene were subjected to PCR amplification and sequencing. Suspected variants were analyzed by using bioinformatic software. The JCV gene was amplified from genomic DNA by nested PCR and sequenced. RESULTS: The child was found to harbor a hemizygous c.506 A>C (p.Y169S) missense variant in exon 5 of the CD40L gene. The variant may affect the TNFH domain of the CD40L protein and result in structural instability and loss of hydrophobic interaction between CD40L and CD40. As predicted by PolyPhen2 and SIFT software, the variant was probably damaging (score = 1.00) and deleterious (score= -8.868). His mother was found to be a heterozygous carrier, while the same variant was not found in his father. Gel electrophoresis of the nested PCR product revealed presence of target JCV band, which was confirmed to be 99% identical with the JCV gene by sequencing. CONCLUSION The patient was diagnosed with co-commitment XHIGM and PML based on the testing of the CD40L gene and JCV infection.
Adult ; CD40 Ligand/genetics* ; Child ; Exons/genetics* ; Female ; Humans ; Hyper-IgM Immunodeficiency Syndrome, Type 1/genetics* ; Leukoencephalopathy, Progressive Multifocal/genetics* ; Male ; Mutation, Missense ; Polymerase Chain Reaction

Acquired Immunodeficiency Syndrome ; DNA ; Diagnostic Tests, Routine ; Humans ; Leukoencephalopathy, Progressive Multifocal ; Polyomavirus

No abstract available.
Biopsy ; Carcinoma, Merkel Cell

No abstract available.
Carcinoma, Merkel Cell ; Fingers

BACKGROUND: BK virus-associated nephropathy (BKVN) is an important cause of chronic allograft dysfunction. The objective of our study was to evaluate the prognosis of BKVN. METHODS: We retrospectively reviewed the data of 133 renal transplant recipients with BKVN treated at the First Affiliated Hospital of Sun Yat-Sen University between July 2007 and July 2017. BK viral loads, graft function, and pathologic indexes were compared between initial diagnosis and last follow-up. RESULTS: After a mean follow-up period of 14.4 (range, 0.3-109.6) months after diagnosis of BKVN, BK viruria, and BK viremia become negative in 19.5% and 90.2% of patients, respectively. The mean estimated glomerular filtration rate (eGFR) at last follow-up was lower than at diagnosis of BKVN (18.3 ± 9.2 vs. 32.8 ± 20.6 mL·min·1.73 m, t = 7.426, P < 0.001). Eight (6.0%) patients developed acute rejection after reducing immunosuppression. At last follow-up, the eGFR was significantly lower in patients with subsequent rejection than those without (21.6 ± 9.8 vs. 33.5 ± 20.9 mL·min·1.73 m, t = 3.034, P = 0.011). In 65 repeat biopsies, SV40-T antigen staining remained positive in 40 patients and became negative in the other 20 patients. The eGFR (42.6 ± 14.3 vs. 26.5 ± 12.3 mL·min·1.73 m), urine viral loads (median, 1.3 × 10vs. 1.4 × 10 copies/mL), and plasma viral load (median, 0 vs. 0 copies/mL) were all significantly lower in patients with negative SV40-T antigen staining than those with persistent BK involvement (all, P < 0.05). Five (3.8%) recipients lost their graft at diagnosis of BKVN, and 13 (9.8%) lost their graft during the follow-up period. The 1-, 3-, and 5-year graft survival rates after diagnosis of BKVN were 99.2%, 90.7%, and 85.7%, respectively. Higher pathologic stage correlated with lower allograft survival rate (χ = 6.341, P = 0.042). CONCLUSION Secondary rejection and persistent histologic infection in BKVN lead to poor prognosis.
Adolescent ; Adult ; Aged ; BK Virus ; Child ; Female ; Glomerular Filtration Rate ; Graft Rejection ; Graft Survival ; Humans ; Kidney Diseases ; complications ; Kidney Transplantation ; adverse effects ; Male ; Middle Aged ; Polyomavirus Infections ; complications ; Retrospective Studies ; Viral Load ; Viremia ; complications ; Young Adult

Merkel cell carcinoma is a rare cutaneous carcinoma, featured by an aggressive clinical course and a mortality rate of 28% at 2 years. A 71-year-old female was affected by a 4.1-cm-wide locally advanced Merkel cell carcinoma of the upper eyelid, previously misdiagnosed as chalazion, with involvement of the extraocular muscles. Although the tumor showed a macroscopic spontaneous regression in size after the incisional biopsy, the mass was treated with neoadjuvant chemotherapy and surgical excision. Good functional and aesthetic result with preservation of the eyeball and absence of tumor recurrence were achieved at 3-year follow-up. In our experience, the combination of the inflammatory cascade due to the incisional biopsy and neoadjuvant chemotherapy led to the regression of a locally advanced large Merkel cell carcinoma of the eyelid.
Aged ; Biopsy ; Carcinoma, Merkel Cell ; Chalazion ; Drug Therapy ; Eyelid Neoplasms ; Eyelids ; Female ; Follow-Up Studies ; Humans ; Mortality ; Muscles ; Neoadjuvant Therapy ; Recurrence ; Skin Neoplasms

Merkel cell carcinoma (MCC) is a rare and highly aggressive neuroectodermal carcinoma arising from mechanoreceptor Merkel cells. Multiple MCCs are even rarer. We report a case of two independent MCCs simultaneously present in the cheek of a patient, which were effectively and esthetically treated using a cheek flap. Punch biopsy performed in a 60-year-old woman admitted with a chief complaint of two skin-colored hard nodules in her left cheek, accompanied by an itching sensation, was suggestive of MCC. Accordingly, we performed sentinel lymph node biopsy through the modified Blair incision under general anesthesia, in cooperation with the head and neck surgery department. The defect was covered with a cheek flap by slightly extending the existing incision following wide excision with a safety margin of 1 cm. This paper is significant in that it introduces an effective reconstruction technique that maintains function using a cheek flap for the management of this rare case. In addition, this paper is the first to classify multiple MCCs according to the time of onset. We believe that this paper presents an effective alternative reconstruction technique with sentinel node biopsy through the modified Blair incision.
Anesthesia, General ; Biopsy ; Carcinoma, Merkel Cell ; Cheek ; Female ; Head ; Humans ; Mechanoreceptors ; Merkel Cells ; Middle Aged ; Neck ; Neural Plate ; Pruritus ; Sensation ; Sentinel Lymph Node Biopsy ; Surgical Flaps

BACKGROUND: Merkel cell carcinoma (MCC) is a rare neuroendocrine malignancy affecting the skin, for which timely diagnosis and aggressive treatment are essential. MCC has most often been reported in Caucasians, and case reports in Asians are rare. This study presents our experiences with the surgical treatment and radiotherapy of MCC in Asian patients. METHODS: We retrospectively reviewed the records of seven MCC patients between 2000 and 2018 from a single institution, and analyzed patient characteristics, tumor characteristics, surgical treatment, sentinel lymph node evaluation, reconstruction, adjuvant radiation therapy, and prognosis. RESULTS: Eight MCC lesions occurred in seven patients, most commonly in the head and neck region. All patients underwent surgical excision with reconstruction. The final surgical margin was 1.0 cm in most cases, and reconstruction was most commonly performed with a split-thickness skin graft. Five patients received adjuvant radiotherapy, and two patients received sentinel lymph node biopsy. During the follow-up period, three patients remained well, two died from other causes, one experienced recurrence, and one was lost to follow-up. CONCLUSIONS: We treated seven Asian MCC patients and our series confirmed that MCC is a very dangerous cancer in Asians as well. Based on our experiences, thorough surgical excision of MCC with histopathological clearance should be considered, with sentinel lymph node evaluation if necessary, followed by appropriate reconstruction and careful postoperative observation. Adjuvant radiation therapy is also recommended for all Asian MCC patients. The results of this case series may provide guidance for the treatment of Asian MCC patients in the future.
Asian Continental Ancestry Group ; Carcinoma, Merkel Cell ; Diagnosis ; Follow-Up Studies ; Head ; Humans ; Lost to Follow-Up ; Lymph Nodes ; Mohs Surgery ; Neck ; Prognosis ; Radiotherapy ; Radiotherapy, Adjuvant ; Recurrence ; Retrospective Studies ; Sentinel Lymph Node Biopsy ; Skin ; Transplants