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Unusual Talaromyces marneffei and Pneumocystis jirovecii coinfection in a child with a STAT1 mutation: A case report and literature review.
Yang, Q, Yu, C, Wu, Y, Cao, K, Li, X, Cao, W, Cao, L, Zhang, S, Ba, Y, Zheng, Y, et al
Frontiers in immunology. 2023;:1103184
Abstract
Talaromyces marneffei and Pneumocystis jirovecii are the common opportunistic pathogens in immunodeficient patients. There have been no reports of T. marneffei and P. jirovecii coinfection in immunodeficient children. Signal transducer and activator of transcription 1 (STAT1) is a key transcription factor in immune responses. STAT1 mutations are predominately associated with chronic mucocutaneous candidiasis and invasive mycosis. We report a 1-year-2-month-old boy diagnosed with severe laryngitis and pneumonia caused by T. marneffei and P. jirovecii coinfection, which was confirmed by smear, culture, polymerase chain reaction and metagenome next-generation sequencing of bronchoalveolar lavage fluid. He has a known STAT1 mutation at amino acid 274 in the coiled-coil domain of STAT1 according to whole exome sequencing. Based on the pathogen results, itraconazole and trimethoprim-sulfamethoxazole were administered. This patient's condition improved, and he was discharged after two weeks of targeted therapy. In the one-year follow-up, the boy remained symptom-free without recurrence.
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Hypomagnesemia in intestinal lymphangiectasia: a case report and review of the literature.
Feng, H, Zou, L, Zhai, X, Zhang, S, Li, J
BMC gastroenterology. 2022;(1):246
Abstract
BACKGROUND Intestinal lymphangiectasia (IL) is a rare disease characterized by dilation of lymphatic vessels and leakage of lymphatic fluids into the intestinal lumen, causing depletion of lymphocytes, protein, lipids, fat-soluble vitamins, and electrolytes. Hypomagnesemia can occur in IL patients but is seldom discussed. CASE PRESENTATION A 30-year-old Tibetan woman who had chronic diarrhea, edema, tetany, and tingling was diagnosed with IL. Prominent hypomagnesemia was noticed. She was treated with a medium-chain triglyceride (MCT) diet and nutrient supplementation with satisfactory results. We also present a systematic review of hypomagnesemia in IL cases from the published literature. CONCLUSIONS Hypomagnesemia may be an overlooked complication of IL, thus monitoring serum magnesium concentrations in IL patients is crucial.
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Generalized Hailey-Hailey disease: Novel splice-site mutations of ATP2C1 gene in Chinese population and a literature review.
Yang, L, Zhang, Q, Zhang, S, Liu, Y, Liu, Y, Wang, T
Molecular genetics & genomic medicine. 2021;(2):e1580
Abstract
BACKGROUND Hailey-Hailey disease (HHD; OMIM 169600) is an autosomal dominate genodermatosis, characterized by recurrent blisters and erosions clinically and remarkable acantholysis pathologically. The underlying pathogenic factor is the mutation of ATP2C1 gene (OMIM: 604384), which encodes secretory pathway Ca2+ /Mn2+ -ATPase (SPCA1). Skin folds are the predilection site of HHD. Atypical cases with a generalized pattern have rarely been reported, making it prone to misdiagnosis. METHODS In this study, we presented three Chinese pedigrees of Hailey-Hailey disease with generalized skin lesions. ATP2C1 mutations were screened by DNA sequencing and their transcripts were further confirmed by minigene assay. We also performed a literature review of previously published generalized HHD over past two decades together with our cases. RESULTS Three splice-site mutations were identified: c.2487+1G>A, c.2126+1G>A, and c.1891-2A>G, which resulted in an exon 25-truncated transcript, two exon 22-truncated transcripts, and two exon 21-truncated transcripts, respectively. The c.2487+1G>A and the c.1891-2A>G mutations are novel mutations which have not been reported before. No clustered mutations of ATP2C1 gene were found in generalized HHD patients in literature along with our novel mutations. CONCLUSION We found no hot spot mutations in ATP2C1 correlated with the generalized pattern of HHD. Our study expanded the spectrum of ATP2C1 mutations, which would be useful for disease diagnosis and genetic counseling.
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Wilson disease patient with rare heterozygous mutations in ATP7B accompanied by distinctive nocturnal enuresis: A case report.
Zhang, S, Li, L, Wang, J
Medicine. 2020;(28):e20997
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Abstract
INTRODUCTION Wilson disease (WD) is an autosomal-recessive disorder of copper metabolism, which exhibits various symptoms due to the combination of environmental and genetic factors. Here, we report a WD patient who displayed distinctive symptom of nocturnal enuresis. PATIENT CONCERNS The patient was a 31-year old woman, who recently developed nocturnal enuresis, combined with hand tremors, trouble speaking, and panic disorder at night. DIAGNOSIS The patient had been diagnosed with WD by Kayser-Fleischer rings, abnormal copper metabolism, neuropsychiatric symptoms, and magnetic resonance imaging when she was 17. The diagnosis was further confirmed by genetic analysis, which revealed a compound heterozygous mutations in ATP7B gene (c.2195T>C and c.3044T>C). The patient exhibited nocturnal enuresis, but the ambulatory electroencephalogram, routine urinalysis, residual urine detection, color doppler ultrasound of kidney, ureter, and bladder all displayed no abnormality. INTERVENTIONS The patient was treated with sodium dimercaptosulphonate, supplemented with Glutathione and Encephalin-inosine. OUTCOMES The urinary copper excretion level decreased gradually, and the nocturnal enuresis was alleviated along with the neuropsychiatric symptoms by copper chelation therapy. CONCLUSION In this study, we proved that variants c.2195T>C and c.3044T>C is involved in pathogenesis of WD, and revealed that nocturnal enuresis may be a symptom of WD.
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Perivascular epithelial cell tumor (PEComa) of the pancreas: A case report and review of literature.
Zhang, S, Chen, F, Huang, X, Jiang, Q, Zhao, Y, Chen, Y, Zhang, J, Ma, J, Yuan, W, Xu, Q, et al
Medicine. 2017;(22):e7050
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Abstract
RATIONALE Perivascular epithelial cell tumors (PEComas) of the pancreas are rare mesenchymal tumors and, to our knowledge, only 20 cases have been reported to date. PATIENT CONCERNS We report a 43-year-old female who presented with upper abdominal pain for 1 year. She underwent an exploratory laparotomy at a local hospital, which failed to resect the tumor. Five months later, she came to the Chinese National Cancer Center for surgery. Preoperative imaging revealed an 11.5-cm-sized mass located in the head of the pancreas. At the microscopic level, the tumor was composed of epithelioid and spindle cells possessing clear to focally granular eosinophilic cytoplasm, which grew in a nested and alveolar pattern around blood vessels. The tumor cells showed immunoreactivity for human melanoma black 45 (HMB-45), but did not express epithelial or endocrine markers. DIAGNOSES Pancreatic PEComa. INTERVENTIONS Pancreaticoduodenectomy, partial hepatectomy, and vascular replacement were performed. After the surgery, the patient received 4 cycles of chemotherapy. OUTCOMES The patient is free of recurrence and metastasis 1.5 years after surgical resection. LESSONS PEComa should be recognized as a preoperative differential diagnosis of pancreatic tumors. For treatment, removal of the tumor should be attempted, and in the case of tumors with malignant tendencies, the addition of chemotherapy should be considered.