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1.
A novel variant of DNM1L expanding the clinical phenotypic spectrum: a case report and literature review.
Zhang, Z, Bie, X, Chen, Z, Liu, J, Xie, Z, Li, X, Xiao, M, Zhang, Q, Zhang, Y, Yang, Y, et al
BMC pediatrics. 2024;(1):104
Abstract
BACKGROUND Mitochondrial diseases are heterogeneous in terms of clinical manifestations and genetic characteristics. The dynamin 1-like gene (DNM1L) encodes dynamin-related protein 1 (DRP1), a member of the GTPases dynamin superfamily responsible for mitochondrial and peroxisomal fission. DNM1L variants can lead to mitochondrial fission dysfunction. CASE PRESENTATION Herein, we report a distinctive clinical phenotype associated with a novel variant of DNM1L and review the relevant literature. A 5-year-old girl presented with paroxysmal hemiplegia, astigmatism, and strabismus. Levocarnitine and coenzyme Q10 supplement showed good efficacy. Based on the patient's clinical data, trio whole-exome sequencing (trio-WES) and mtDNA sequencing were performed to identify the potential causative genes, and Sanger sequencing was used to validate the specific variation in the proband and her family members. The results showed a novel de novo heterozygous nonsense variant in exon 20 of the DNM1L gene, c.2161C>T, p.Gln721Ter, which is predicted to be a pathogenic variant according to the ACMG guidelines. The proband has a previously undescribed clinical manifestation, namely hemiparesis, which may be an additional feature of the growing phenotypic spectrum of DNM1L-related diseases. CONCLUSION Our findings elucidate a novel variant in DNM1L-related disease and reveal an expanding phenotypic spectrum associated with DNM1L variants. This report highlights the necessity of next generation sequencing for early diagnosis of patients, and that further clinical phenotypic and genotypic analysis may help to improve the understanding of DNM1L-related diseases.
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2.
Multiple cholesterol granulomas of the breast: A case report and review of the literature.
Jin, M, Wu, Q, Miao, B, Jin, J, Gao, C, Xu, X, Luo, Y, Chen, Z
Medicine. 2023;(8):e33084
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Abstract
RATIONALE Cholesterol granuloma of the breast is a rare disease defined as chronic reactive inflammation of cholesterol crystals and foreign body giant cells. This disease can mimic breast cancer in the clinic as painless palpable hard nodules, and imaging shows irregular hypoechoic nodules with unclear boundaries. Therefore, the uncommon lesions can be easily misdiagnosed as breast cancer. Meanwhile, it can be easily neglected by clinicians because of poor understanding. PATIENT CONCERNS In this report, we present a rare case of multiple cholesterol granulomas of the breast, which was analyzed retrospectively and combined with all 11 relevant available studies in the last 50 years. INTERVENTIONS The patient had undergone multiple breast imaging inspections for breast nodules and had the local resection of nodules. DIAGNOSES The patient was confirmed to have a final diagnosis of benign cholesterol granulomas but was initially considered as breast cancer. OUTCOMES The patient did not complain of discomfort after surgery, and ultrasound reexamination 5 months after surgery showed no recurrence. LESSONS By retrospective analysis, dynamic contrast-enhanced magnetic resonance imaging and core needle biopsy can synergistically help clinicians distinguish it from other breast disease. To raise awareness of such a rare disease and reduce related misdiagnoses, we summarize the characteristics of cholesterol granulomas and recommend appropriate novel diagnosis and treatment regimens for patients with cholesterol granulomas.
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3.
PD-1 inhibitor-associated type 1 diabetes: A case report and systematic review.
Lin, C, Li, X, Qiu, Y, Chen, Z, Liu, J
Frontiers in public health. 2022;:885001
Abstract
OBJECTIVE This study aimed to summarize the clinical characteristics of programmed death receptor 1 (PD-1) inhibitor-associated type 1 diabetes so as to improve the ability of clinicians to correctly diagnose and treat it. METHODS We reported a case of a 70-year-old woman with gastric cancer who developed hyperosmolar hyperglycemic coma during camrelizumab (a PD-1 inhibitor) treatment and was diagnosed with PD-1 inhibitor-associated type 1 diabetes. We conducted a systematic review of 74 case reports of type 1 diabetes associated with PD-1 inhibitor therapy published before June 2022. RESULTS The patient developed type 1 diabetes with hyperosmolar hyperglycemic coma after receiving camrelizumab chemotherapy for 6 months (9 cycles). We searched 69 English articles comprising 75 patients, all of whom had been treated with a PD-1 inhibitor (nivolumab or pembrolizumab) and progressed to diabetes after an average of 6.11 (1-28) cycles. Nivolumab combined with ipilimumab (a cytotoxic T lymphocyte-associated protein 4 inhibitor) had the shortest onset (4.47 cycles on average). A total of 76% (57/75) of patients developed diabetic ketoacidosis (DKA) at onset, and 50.67% (38/75) of patients had C-peptide <0.1 ng/mL. Most of the patients were tested for insulin autoantibodies, with a positive rate of 33.33% (23/69); of these, 86.96% (20/23) were tested for glutamate decarboxylase antibody and 46.67% (35/75) were tested for human leukocyte antigen (HLA). HLA-DR4 was the most common type. CONCLUSIONS The progression of type 1 diabetes induced by PD-1 inhibitors is relatively rapid. Islet failure often occurs when detected, seriously endangering patients' lives. Patients treated with PD-1 inhibitors should closely monitor their plasma glucose level during treatment to detect, diagnose, and treat diabetes on time.
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Iodine-125 brachytherapy for the treatment of central mucoepidermoid carcinoma of the jaw in a pre-teen.
Chen, Z, Liu, G, Geng, Y, Wu, H
International journal of oral and maxillofacial surgery. 2022;(10):1273-1278
Abstract
Central mucoepidermoid carcinoma (MEC) of the jaw is a rare malignant neoplasm, even rarer in teenagers. Radical surgical resection, such as en bloc resection or segmental resection, is the main treatment for MEC of the jaw. This surgical treatment results in a loss of integrity of the jaw. The successful application of iodine-125 brachytherapy for the treatment of intraosseous MEC of the mandible in an 11-year-old girl is reported here. No local recurrence or distant metastasis was observed during 6 years of follow-up. The integrity of the mandible was preserved and the development of the mandible was not significantly affected. Iodine-125 brachytherapy is a potential alternative treatment for central mucoepidermoid carcinoma of the jaw, especially in teenagers, and may preserve the continuity and function of the jaw.
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Enhancement in serum (1-3)-β-D-glucan level by cutaneous alternariosis: A case report and literature review.
Chen, Z, Jiang, Y, Wang, D, Zheng, M, Liu, X, Yuan, C
Microbial pathogenesis. 2021;:104703
Abstract
Contamination with the fungus Alternaria spp. is often considered to have originated from laboratory sources, which occasionally causes infection in immunocompromised patients, termed as phaeohyphomycosis. Here, we have reported a case of cutaneous alternariosis caused by Alternaria alternata. This diagnosis was based on microscopic examination and mycological culturing of patient's vesicular lesions, with the use of 5 molecular markers (namely, ITS, ATPase, Actin, rpb2, and tef1) for strain identification. We noted that Alternaria infection caused an increase in the serum level of (1-3)-β-D-glucan (BG) in the patients. To the best of our knowledge, no such finding has been reported in previously in the literature.
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Primary hyperoxaluria diagnosed after kidney transplantation failure: lesson from 3 case reports and literature review.
Cai, R, Lin, M, Chen, Z, Lai, Y, Huang, X, Zhao, G, Guo, X, Xiong, Z, Chen, J, Chen, H, et al
BMC nephrology. 2019;(1):224
Abstract
BACKGROUND Primary hyperoxaluria (PH) is a rare inborn disorder of the metabolism of glyoxylate, which causes the hallmark production oxalate and forms insoluble calcium oxalate crystals that accumulate in the kidney and other organs. Since the manifestation of PH varies from recurrent nephrolithiasis, nephrocalcinosis, and end-stage renal disease with age at onset of symptoms ranging from infancy to the sixth decade, the disease remains undiagnosed until after kidney transplantation in some cases. CASE PRESENTATION Herein, we report 3 cases of PH diagnosed after kidney transplantation failure, providing the comprehensive clinical course, the ultrasonic image of renal graft and pathologic image of the biopsy, highlighting the relevance of biopsy findings and the results of molecular genetic testing. We also focus on the treatment and the unfavorable outcome of the patients. Meanwhile, we review the literature and show the additional 10 reported cases of PH diagnosed after kidney transplantation. Additionally, we discuss the progressive molecular understanding of the mechanisms involved in PH and molecular therapy. CONCLUSIONS Overall, the necessity of preoperative screening of PH in all patients even with a minor history of nephrolithiasis and the importance of proper treatment are the lessons we learn from the 3 cases, which prompt us to avoid tragedies.
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Rhabdomyolysis, lactic acidosis, and multiple organ failure during telbivudine treatment for hepatitis B: a case report and review of the literature.
Zheng, J, Deng, M, Qiu, X, Chen, Z, Li, D, Deng, X, Deng, Q, Yu, Z
Journal of medical case reports. 2017;(1):331
Abstract
BACKGROUND Telbivudine can cause severe side effects, including myositis, neuritis, rhabdomyolysis, and lactic acidosis. However, reported cases of telbivudine leading to multiple organ failure are rare. Here, we report a case of telbivudine-induced severe polymyositis, lactic acidosis, and multiple organ failure. CASE PRESENTATION A 30-year-old Chinese man with hepatitis B virus infection received antiviral treatment with 600 mg of telbivudine daily for more than 11 months. He developed progressive weakness and myalgia, and subsequently experienced palpitations, chest tightness, lethargy, hypotension, and hypoxemia. Blood tests showed markedly elevated levels of alanine aminotransferase (955 U/L), aspartate aminotransferase (1375 U/L), blood urea nitrogen (14.9 mmol/L), creatine kinase (peak at 8050 U/L), and blood lactate (>20.0 mmol/L). His symptoms improved after continuous renal replacement therapy and short-term methylprednisolone treatment. Hyperbaric oxygen therapy, physical therapy, and rehabilitation for more than 2 months led to recovery of muscle strength to the normal range. CONCLUSIONS We conclude that continuous renal replacement and steroid therapies play key roles in stabilizing telbivudine-induced severe rhabdomyolysis, lactic acidosis, and multiple organ failure. Hyperbaric oxygen, physical therapy, and rehabilitation may aid in functional recovery after the acute phase of lactic acidosis and organ failure.
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8.
[Maple syrup urine disease of neonates: report of two cases and review of literature].
Chen, Z, Luo, F, Wu, XJ, Shi, LP
Zhonghua er ke za zhi = Chinese journal of pediatrics. 2010;(9):680-4
Abstract
OBJECTIVE To analyze and summarize clinical manifestation of maple syrup urine disease (MSUD) of neonates. METHODS Data of two cases with neonatal MSUD and the reports of 15 cases seen in the past 15 years in China were reviewed and analyzed. RESULTS There was an increasing number of reports of cases with neonatal MSUD. All the 17 cases had the symptom of poor feeding between 3 h and 8 d after birth; 7 cases had family history; 14 cases showed progressive neurologic signs. Odor of maple syrup occurred in 8 cases. Blood levels of branched-chain amino acids (BCAA) significantly increased in 13 cases and 6 neonates were diagnosed using tandem mass spectrometry. Urinary levels of BCAA and metabolite elevated in 12 cases and 5 neonates were diagnosed using gas chromatography-mass spectrometry. MRI/CT demonstrated abnormal signal in 10 cases. Twelve cases died or their parents gave up treatment and one case had cerebral palsy; 4 cases were treated with BCAA-free formula milk and showed improved outcome. CONCLUSION Newborns with MSUD often had early appeared non-specific symptoms with poor feeding and lethargy, most cases later showed an odor resembling maple syrup and neurologic signs. For patients who were suspected of having MSUD, blood and urine concentrations of BCAA should be tested for early diagnosis. Specific MRI edema signal from brain suggests the possibility of MSUD. Early intervention and treatment after diagnosis, with compliance of parents, would improve the patient's outcome.