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

BACKGROUND/AIMS: Inhibition of α4β7 integrin has been shown to be effective for induction and maintenance therapy in patients with ulcerative colitis (UC). We investigated the effects of varying doses of the α4β7 inhibitor abrilumab in Japanese patients with moderate-to-severe UC despite conventional treatments. METHODS: In this randomized, double-blind, placebo-controlled study, 45 UC patients were randomized to abrilumab 21 mg (n=11), 70 mg (n=12), 210 mg (n=9), or placebo (n=13) via subcutaneous (SC) injection for 12 weeks. The double-blind period was followed by a 36-week open-label period, in which all patients received abrilumab 210 mg SC every 12 weeks, and a 28-week safety follow-up period. The primary efficacy variable was clinical remission at week 8 (total Mayo score ≤2 points with no individual subscore >1 point). RESULTS: Clinical remission at week 8 was 4 out of 31 (12.9%) overall in the abrilumab groups versus 0 out of 13 in the placebo group (abrilumab 21 mg, 1/10 [10.0%]; 70 mg, 2/12 [16.7%]; 210 mg, 1/9 [11.1%]). In both the double-blind and open-label periods, fewer patients in the abrilumab groups experienced ≥1 adverse event compared with those in the placebo group. There were no cases of progressive multifocal leukoencephalopathy and no deaths. CONCLUSIONS: Abrilumab 70 mg and 210 mg yielded numerically better results in terms of clinical remission rate at Week 8 than placebo, with the 210 mg dose showing more consistent treatment effects. Abrilumab was well tolerated in Japanese patients with UC.
Asian Continental Ancestry Group ; Colitis, Ulcerative ; Follow-Up Studies ; Humans ; Japan ; Leukoencephalopathy, Progressive Multifocal ; Ulcer

BACKGROUND AND PURPOSE: The anti-John-Cunningham virus (JCV)-antibody serostatus and index are used in the risk stratification of progressive multifocal leukoencephalopathy (PML) in multiple sclerosis (MS) patients treated with natalizumab. However, little information on these parameters is available for Asian countries. The purpose of this study was to determine the rate of seropositivity, index, and longitudinal index evolution in Korean patients with MS. METHODS: The antibody seroprevalence was analyzed in 355 samples from 187 patients with clinically isolated syndrome or MS using a second-generation, two-step, enzyme-linked immunosorbent assay. A 4-year longitudinal evaluation was applied to 66 patients. RESULTS: The overall antibody seroprevalence was 80% (n=149). Among antibody-positive patients, the index had a median value of 3.27 (interquartile range, 1.52–4.18), with 77% (n=114) and 56% (n=83) of patients having indices >1.5 and >3.0, respectively. The serostatus of 59 (89%) of the 66 patients did not change during the longitudinal analysis, while 3 (6%) of the 53 patients who were initially seropositive reverted to seronegativity, and 2 (15%) of the 13 patients who were initially seronegative converted to seropositivity. All patients with a baseline index >0.9 maintained seropositivity, and 92% of patients with a baseline index >1.5 maintained this index over 4 years. No patients developed PML (median disease duration, 8 years). CONCLUSIONS: The seroprevalence and index of anti-JCV antibodies in Korean patients with MS may be higher than those in Western countries.
Antibodies ; Asia ; Asian Continental Ancestry Group ; Enzyme-Linked Immunosorbent Assay ; Humans ; JC Virus ; Leukoencephalopathy, Progressive Multifocal ; Multiple Sclerosis ; Natalizumab ; Seroepidemiologic Studies

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

No abstract available.
Biopsy ; Carcinoma, Merkel Cell