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Rare, late onset of immune checkpoint inhibitor-induced type 1 diabetes mellitus in a patient with small-cell lung cancer treated with serplulimab: a case report and review of the literature.
Ning, P, Liu, S, Cao, H
Journal of medical case reports. 2024;(1):51
Abstract
BACKGROUND As a newly approved immune checkpoint inhibitor in China, serplulimab has been widely used in the immunotherapy of tumors. However, the immune-related adverse events of immune checkpoint inhibitors should not be ignored. Although immune checkpoint inhibitor-induced type 1 diabetes mellitus is a rare complication, it may cause diabetic ketoacidosis and endanger the lives of patients. CASE PRESENTATION This case report describes a 55-year-old male of Han nationality from China diagnosed with small-cell lung cancer with multiple metastases who experienced an adverse event of type 1 diabetes mellitus 68 weeks after receiving serplulimab therapy. The patient presented with typical symptoms of diabetic ketoacidosis, including severe thirst, nausea, vomiting, deep respirations, and stupor. Despite the absence of diabetes-related autoantibodies, the patient had extremely low levels of insulin and C-peptide release. Other potential causes of diabetes were ruled out, confirming the condition as serplulimab-induced immune checkpoint inhibitor-induced type 1 diabetes mellitus. After aggressive treatment to correct diabetic ketoacidosis, the patient's blood glucose levels stabilized and symptoms of diabetes improved significantly, although long-term insulin maintenance therapy was necessary. CONCLUSION This case highlights a rare, late-onset adverse event of immune checkpoint inhibitor-induced type 1 diabetes mellitus that may be overlooked during treatment with serplulimab. The monitoring of blood glucose levels and early signs and symptoms of diabetes cannot be relaxed at the late stage of treatment, even if patients do not have elevated blood glucose levels before and during the middle stage of treatment.
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Chinese familial central precocious puberty with hyperuricemia due to recurrent DLK1 mutation: Case report and review of the literature.
Yuan, G, Zhang, X, Liu, S, Chen, T
Molecular genetics & genomic medicine. 2022;(12):e2087
Abstract
BACKGROUND Central precocious puberty (CPP) is a precocious puberty due to premature activation of the hypothalamic-pituitary-gonadal axis (HPG). MKRN3 defects are well-known causes of CPP, while DLK1 mutations were recently identified in a few patients with CPP. METHODS The study was approved by the Institutional Review and the scientific committee of the hospital. The clinical data were collected. Whole-exome sequencing (WES) was performed to detect causative variants. Key words 'DLK1', 'MKRN3', and "central precocious puberty" were used for literature search in PubMed, Google Scholar, HGMD, and OMIM databases. RESULTS The patient, a male, whose puberty began before age nine, had significant metabolic abnormalities including overweight, hyperlipidemia, and hyperuricemia. WES detected a recurrent frame-shift mutation, NM_003836.5:c.479delC(p.P160fs*50) in DLK1 in the patient and his father. CONCLUSION The familial DLK1-CPP was identified in China for the first time, which supported that short stature is predicted in patients with CPP without GnRHa treatment. Therefore, we recommend that children with DLK1-CPP should be treated as early as possible to improve adult height. The patient in this study had persistent hyperuricemia, further suggests that this antiadipogenic factor represents a link between reproduction and metabolism.
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Prevalence of Parathyroid Carcinoma and Atypical Parathyroid Neoplasms in 153 Patients With Multiple Endocrine Neoplasia Type 1: Case Series and Literature Review.
Song, A, Yang, Y, Liu, S, Nie, M, Jiang, Y, Li, M, Xia, W, Wang, O, Xing, X
Frontiers in endocrinology. 2020;:557050
Abstract
Purpose: The occurrence of parathyroid carcinoma (PC) and atypical parathyroid neoplasm (APN) in multiple endocrine neoplasia type 1 (MEN1) is rare. The present paper reports the cases of 3 MEN1-PC/APN patients at our center and discusses the prevalence in a Chinese MEN1 cohort. Methods: This report is a retrospective analysis of 153 MEN1-associated primary hyperparathyroidism (MEN1-HPT) patients at our center, which included 3 MEN1-associated PC/APN (MEN1-PC/APN) patients. The clinical manifestations, biochemical indices, pathological findings, and therapy have been summarized along with the report of the genetic testing of the 3 patients. Results: Of the 153 MEN1-HPT patients, 1 (0.7%) was histopathologically diagnosed with PC and 2 (1.3%) with APN. Three heterozygous mutations were identified in the 3 MEN1-PC/APN patients (c.917 T > G, c.431T > C, and c.549 G > C). The cumulative findings of 3 cases with 18 previously reported MEN1-PC/APN cases revealed that the mean serum calcium (Ca) level was 3.15 ± 0.44 mmol/L and the median parathyroid hormone (PTH) level was 327 pg/mL (214.1, 673.1), both of which were significantly higher as compared to the respective levels in non-PC/APN MEN1 patients at our center [Ca: 2.78 mmol/L [2.61, 2.88], PTH: 185.5 pg/mL [108.3, 297.0]; P = 0.0003, 0.0034, respectively]. Conclusion: MEN 1-PC/APN is a rare disease, with a prevalence of only 2.0% among the MEN1-HPT cohort at our center. The affected patients recorded higher serum Ca level and PTH levels than those with MEN1-associated benign tumors. However, the diagnosis of MEN1-PC/APN is based upon pathology most of the times.
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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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Successful treatment of Gorham-Stout syndrome in the spine by vertebroplasty with cement augmentation: A case report and literature review.
Liu, S, Zhou, X, Song, A, Kong, X, Wang, Y, Liu, Y
Medicine. 2018;(29):e11555
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Abstract
RATIONALE Gorham-Stout syndrome in the spine is extremely rare, and there is no standard curative management thus far. The objective of this article is to report a very rare case of Gorham-Stout syndrome of the lumbar and sacral spine with chylothorax and chyloperitoneum successfully treated by combination of vertebroplasty with cement augmentation and medication treatment. We described the clinical characteristics and postoperative therapy of the patient, and reviewed all of the published cases of Gorham-Stout syndrome of the lumbar and sacral spine. PATIENT CONCERNS A 31-year-old man presented with increasingly serious abdominal distention and back pain. MRI showed massive bony destruction of the spine and pelvis. CT and ultrasonography demonstrated massive ascites and mild hydrothorax. DIAGNOSES We believe this is the first report of a case of Gorham-Stout syndrome with both chylothorax and chyloperitoneum. INTERVENTIONS Chest and abdominal cavity puncture was performed for symptomatic relief and the test results confirmed chylothorax and chyloperitoneum. Tissue biopsy and percutaneous vertebroplasty at L5 were performed and the postoperative pathology together with symptoms and examinations were reported to be consistent with Gorham-Stout syndrome. Subsequently, we administered combination medical treatment consisting of interferon-α-2b, zoledronic acid and calcitriol. OUTCOMES At the 1-year and 2-year follow-up visit, he had nearly full complete remission and reported palliative back pain. Moreover, the amount of pleural and peritoneal fluid was successfully reduced gradually. LESSONS Vertebroplasty by cement augmentation may be a treatment option for patients with Gorham-Stout Syndrome in the spine who cannot undergo appropriate surgery or decline open surgery. This represents a safe and minimally invasive approach to sustainably relieve pain and stabilize vertebral bodies with Gorham-Stout syndrome in the spine.
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Phenotypic heterogeneity of intellectual disability in patients with congenital insensitivity to pain with anhidrosis: A case report and literature review.
Liu, Z, Liu, J, Liu, G, Cao, W, Liu, S, Chen, Y, Zuo, Y, Chen, W, Chen, J, Zhang, Y, et al
The Journal of international medical research. 2018;(6):2445-2457
Abstract
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive heterogeneous disorder mainly caused by mutations in the neurotrophic tyrosine receptor kinase 1 gene ( NTRK1) and characterized by insensitivity to noxious stimuli, anhidrosis, and intellectual disability. We herein report the first north Han Chinese patient with CIPA who exhibited classic phenotypic features and severe intellectual disability caused by a homozygous c.851-33T>A mutation of NTRK1, resulting in aberrant splicing and an open reading frame shift. We reviewed the literature and performed in silico analysis to determine the association between mutations and intellectual disability in patients with CIPA. We found that intellectual disability was correlated with the specific Ntrk1 protein domain that a mutation jeopardized. Mutations located peripheral to the Ntrk1 protein do not influence important functional domains and tend to cause milder symptoms without intellectual disability. Mutations that involve critical amino acids in the protein are prone to cause severe symptoms, including intellectual disability.
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Neurological symptoms and spinal cord embolism caused by endoscopic injection sclerotherapy for esophageal varices: A case report and literature review.
Liu, S, Wu, N, Chen, M, Zeng, X, Wang, F, She, Q
Medicine. 2018;(18):e0622
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RATIONALE Spinal cord embolism is a rare complication of endoscopic injection sclerotherapy (EIS). PATIENT CONCERNS We report a case of a 56-year-old man who presented neurological symptoms and spinal cord embolism caused by EIS on esophageal varices. Clinical signs and symptoms, laboratory tests, thoracic magnetic resonance imaging (MRI), and related treatment supported its diagnosis. DIAGNOSES spinal cord embolism. INTERVENTIONS We stopped the hemostatic and anti-coagulation treatment, and switched to nerve nutrition, microcirculation, and hormone therapy, along with administering gastric mucosal protective agents. OUTCOMES The all patient's signs and symptoms and signs of spinal cord embolism were all relieved within 3 months after the clinical treatment. LESSONS We recommend that neurological symptoms after EIS in patients with esophageal varices should be considered a rare complication. Life-threatening conditions could be avoided by an accurate and timely diagnosis.
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[Sorafenib in combination with chemotherapy as induction therapy for FLT3-ITD positive acute myeloid leukemia:nine cases report and literatures review].
Liu, S, Wei, X, Yin, Q, Mi, R, Zhang, Y, Wang, P, Ai, H, Zhao, H, Han, L, Song, Y
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi. 2015;(3):241-4
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MYH9-related disease: description of a large Chinese pedigree and a survey of reported mutations.
Zhang, S, Zhou, X, Liu, S, Bai, T, Zhang, Y, Wang, J, Wang, S, Zhang, X, Wang, B
Acta haematologica. 2014;(2):193-8
Abstract
We describe a large four-generational Chinese pedigree segregating MYH9 -related disease caused by a V1516L mutation. The clinical findings supported previously established genotype-phenotype correlations, and also demonstrated interindividual variability of disease manifestations even within the same family. The same mutation was previously reported in another Chinese pedigree but resulting from a different DNA substitution. Analyzing the patterns of previously reported mutations revealed a limited spectrum of pathogenic variants. The implications of this finding are discussed.
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[Two cases of pulmonary thromboembolism associated with protein C and protein S deficiency and literature review].
Liu, F, Zhu, L, Chen, P, Shi, Z, Liu, S
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences. 2013;(9):971-6
Abstract
To explore the clinical manifestations, diagnosis and treatment of pulmonary thromboembolism associated with protein C (PC)/protein S (PS) deficiency. Two male patients 29 and 26 years old diagnosed with PC deficiency and/or PS deficiency were retrospectively analyzed and related literatures were reviewed. The most common symptoms were pain in the lower limbs with chest pain or decreased vision. Color dopper flow imaging (CDFI) showed lower deep venous phlebothrombosis. Multislice CT angiography (CTA) revealed pulmonary embolism. The level of serum homocysteine (HCY) increased and the level of plasma PC/PS content decreased to PC 57.4%, and PS 28.9% in patient 1, while PS 33.4% in patient 2. Poor routine anticoagulant response was observed. After the diagnosis of PC/PS deficiency, vitamin B6 and B12 anticoagulant therapy was added, and the symptoms in the patients improved significantly. Congenital thrombophilia should be taken into consideration for young patients with lower deep venous thrombosis and pulmonary embolism which occur recurrently without obvious predisposing causes before 40. Plasma PC/PS concentrations or activity help a lot in the diagnosis and treatment.