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Sintilimab-related diabetes mellitus and psoriasis: A case report and literature review.
Huang, W, Liu, Y, Li, M, Xue, Y, Bao, W, Guo, Y
Medicine. 2023;(45):e35946
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Abstract
RATIONALE With the popularity of ICIs in different oncology treatments, immune-related adverse events have raised concerns, mostly occurring in skin and endocrine gland injury. This disease involves different organ systems and presents with a variety of clinical manifestations. Most patients with immune checkpoint inhibitor-induced type 1 diabetes are reported to have no combination of autoimmune disease. We report a case of Sintilimab-related diabetes mellitus and psoriasis. PATIENT CONCERNS We report a case of a 65-year-old female with Sintilimab-related diabetes mellitus and psoriasis. DIAGNOSIS The patient treated with anti-programmed cell death protein 1 (Sintilimab) for 4 cycles. The patient presented with inexplicable bouts of nausea and vomiting, accompanied by chest discomfort and a feeling of breathlessness, prompting their admission to the local hospital. The initial assessment upon admission revealed an abrupt elevation in blood glucose levels, alongside normal ketone levels, lactic acidosis, and hyperuricemia. A comprehensive regimen was provided to regulate glucose levels and address the symptoms, resulting in notable improvement and subsequent discharge. Regrettably, the patient's personal decision to discontinue medication for a single day led to the emergence of acute ketoacidosis, coupled with a recurrence of psoriasis vulgaris. Consequently, readmission became necessary. Based on the patient's medical history and diabetes antibody testing, the diagnosis of immune checkpoint inhibitor induced diabetes mellitus has been confidently established. INTERVENTIONS The patient ceased treatment with Sintilimab and was initiated on insulin therapy for glycemic control, alongside symptomatic management for psoriasis. Upon stabilization of the condition, long-term administration of exogenous insulin was implemented as a substitute treatment. OUTCOME Outside of the hospital, insulin therapy effectively maintained stable blood glucose levels, and there were no further episodes of psoriasis flare-ups. LESSON The clinical manifestations of immune checkpoint inhibitor induced diabetes mellitus are variable, and in this case the patient presented with unique primary symptoms. Therefore, it is crucial to accumulate relevant cases, understand the different clinical presentations and identify the underlying mechanisms of the disease. This will provide further evidence for early therapeutic intervention in similar patients in the future.
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Impaired Cardiomyocyte Maturation Leading to DCM: A Case Report and Literature Review.
Zhou, L, Huang, J, Li, H, Duan, H, Hua, Y, Guo, Y, Zhou, K, Li, Y
Medicina (Kaunas, Lithuania). 2023;(6)
Abstract
Background: The maturation of cardiomyocytes is a rapidly evolving area of research within the field of cardiovascular medicine. Understanding the molecular mechanisms underlying cardiomyocyte maturation is essential to advancing our knowledge of the underlying causes of cardiovascular disease. Impaired maturation can lead to the development of cardiomyopathy, particularly dilated cardiomyopathy (DCM). Recent studies have confirmed the involvement of the ACTN2 and RYR2 genes in the maturation process, facilitating the functional maturation of the sarcomere and calcium handling. Defective sarcomere and electrophysiological maturation have been linked to severe forms of cardiomyopathy. This report presents a rare case of DCM with myocardial non-compaction, probably resulting from allelic collapse of both the ACTN2 and RYR2 genes. Case Presentation: The proband in this case was a four-year-old male child who presented with a recurrent and aggressive reduction in activity tolerance, decreased ingestion volume, and profuse sweating. Electrocardiography revealed significant ST-T segment depression (II, III, aVF V3-V6 ST segment depression >0.05 mV with inverted T-waves). Echocardiography showed an enlarged left ventricle and marked myocardial non-compaction. Cardiac magnetic resonance imaging revealed increased left ventricular trabeculae, an enlarged left ventricle, and a reduced ejection fraction. Whole exome sequencing revealed a restricted genomic depletion in the 1q43 region (chr1:236,686,454-237,833,988/Hg38), encompassing the coding genes ACTN2, MTR, and RYR2. The identified variant resulted in heterozygous variations in these three genes, with the ACTN2 g.236,686,454-236,764,631_del and RYR2 g.237,402,134-237,833,988_del variants being the dominant contributors to the induction of cardiomyopathy. The patient was finally diagnosed with DCM and left ventricular myocardial non-compaction. Conclusions: This study reports a rare case of DCM with myocardial non-compaction caused by the allelic collapse of the ACTN2 and RYR2 genes. This case provides the first human validation of the critical role of cardiomyocyte maturation in maintaining cardiac function and stability and confirms the key findings of previous experimental research conducted by our group. This report emphasizes the connection between genes involved in regulating the maturation of cardiomyocytes and the development of cardiomyopathy.
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Lance Adams syndrome: two cases report and literature review.
Guo, Y, Xiao, Y, Chen, LF, Yin, DH, Wang, RD
The Journal of international medical research. 2022;(2):3000605211059933
Abstract
Hypoxic myoclonus, also known as Lance Adams syndrome, is a rare syndrome that results from the serious brain damage caused by cerebral hypoxia that often follows cardiopulmonary resuscitation. This current case report describes two patients with post-hypoxic myoclonus, both of whom received cardiopulmonary resuscitation. The neurological symptoms of these two patients were significantly improved by the administration of clonazepam and sodium valproate sustained-release tablets. The report presents a literature review detailing the pathogenesis, diagnosis and treatment of Lance Adams syndrome. The timely diagnosis and treatment of Lance Adams syndrome can significantly improve the quality of life of patients. Valproic acid, clonazepam and other antiepileptic drugs can be used. Whether levetiracetam is effective for cortical myoclonus requires further clinical study.
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Case report: Identification of a novel HNRNPC::RARG fusion in acute promyelocytic leukemia lacking RARA rearrangement.
Ding, W, Weng, G, Wang, Z, Guo, Y, Wang, M, Shen, H, Chen, S, Du, X, Wen, L
Frontiers in oncology. 2022;:1028651
Abstract
Acute promyelocytic leukemia (APL) is a special subtype of acute myeloid leukemia (AML), 95% patients have PML-RARA fusion gene as a result of a reciprocal chromosomal translocation t(15;17)(q22; q21). The retinoic acid receptors (RARs) belong to nuclear hormone receptors which modulate the transcription of DNA elements. RARs have three isoforms: retinoic acid receptor alpha (RARA), retinoic acid receptor beta (RARB) and retinoic acid receptor gamma (RARG). In this study, we describe the experimental results of a case with HNRNPCRARG gene transcript with morphologic and immunophenotypic features similar to APL, including bone marrow morphology and immunophenotype, which showed poor response to ATO and chemotherapy. Then the patient achieved remission under the combination of BCL-2 inhibitor (Venetoclax) and standard 7 + 3 chemotherapy in second induction chemotherapy. The treatment in this case demonstrated effective response to Venetoclax, which suggested its possible role for the patient with acute promyelocytic-like leukemias (APLL).
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Almost misdiagnosed Menkes disease: A case report.
Guo, Y, Xia, W, Peng, X, Shao, J
Heliyon. 2022;(4):e09268
Abstract
BACKGROUND Menkes disease is a disorder of copper metabolism and which follows a progressive degeneration of brain. It is a rare X-linked recessive disorder that results from mutations in ATP7A gene. The early diagnosis of Menkes disease is critical to patients' prognosis. CASE PRESENTATION We report a case of Menkes disease. A 4-month-old boy presented with intermittent convulsions for a week. The brain MRI showed excessive tortuosities of intracranial vessels, and radiologists prompted for further examinations to confirm that it was Menkes disease. Patient was advised for biochemical investigations and genetic tests. Reduced level of ceruloplasmin (0.04 g/L; normal range, 0.2-0.6 g/L) was revealed. Genetic testing revealed a missense mutation within exon 18, c.3548 G > A, p.G1183D. This patient was almost misdiagnosed as epilepsy. Fortunately, based on the clues from radiologist, further physical examination and experimental tests were carried out. CONCLUSION We reported the imaging features of a case of Menkes disease, which can provide clinicians with more clues to consider the possibility of this rare disease.
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Neonatal maple syrup urine disease in China: two novel mutations in the BCKDHB gene and literature review.
Jiang, HH, Guo, Y, Shen, X, Wang, Y, Dai, TT, Rong, H, Cheng, R, Zhao, F
Journal of pediatric endocrinology & metabolism : JPEM. 2021;(9):1147-1156
Abstract
OBJECTIVES To report two novel mutations in the BCKDHB gene with Maple syrup urine disease (MSUD) and compare their data with 52 cases of MSUD reported in the available Chinese literature. METHODS Clinical data of a case of a newborn with MSUD was retrospectively studied. Literatures on MSUD in the local medical journals from January 1990 till December 2019 in China were reviewed. RESULTS Two novel BCKDHB mutations c.90_91insCTGGCGCGGGG (p.Phe35TrpfsTer41) and c.80_90del (p.Ala32PhefsTer48) were identified. We found a total of 52 cases of MSUD reports so far. A total of 49 cases had the symptom of poor feeding (94.2%), 50 cases showed poor responses to stimulation (96.2%), 21 cases had odor of maple syrup (40.3%), 29 cases had seizures (55.7%), and 13 cases had respiratory failure (25.0%). The average of the blood ammonia was 127.2 ± 75.0 μmol/L. A total of 18 cases reported the gene testing, among of them 9 cases of BCKDHA mutations, 6 cases of BCKDHB mutations, and 2 cases of DBT mutations. A total of 13 cases (25%) were treated with mechanical ventilation, 50 cases (96.2%) with protein-restricted diet and l-carnitine, 29 cases with thiamine, and only 2 cases were treated with blood purification. Finally, 19 patients (36.5%) were died, 21 cases (40.4%) were improved after treatments. CONCLUSIONS The clinical phenotype of neonatal MSUD in China belongs to the classical type currently. Suspected patients should have blood or urine branched-chain amino acid levels tested and brain MRI as early as possible to enable early diagnosis, thus improvement in prognosis.
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[WHIM syndrome: a case report and literature review].
Chen, XJ, Yang, WY, Wang, SC, Guo, Y, Liu, F, Qi, BQ, Chang, LX, Zhou, JF, An, WB, Wei, W, et al
Zhonghua er ke za zhi = Chinese journal of pediatrics. 2013;(3):178-82
Abstract
OBJECTIVE To study the clinical and laboratory characteristics of cases with warts, hypogammaglobulinemia, infections and myelokathexis (WHIM) syndrome. METHOD An 11-year-old boy was diagnosed as WHIM syndrome and CXCR4 gene mutation analysis was performed. RESULT Since 3 years of age, the patient had recurrent fever and persistent cough. Since 6 years of age, he had warts on his fingers, the warts increased gradually. His complete blood count showed: white blood cell (WBC) 0.65×10(9)/L, neutrophil 0.15×10(9)/L, hemoglobin 116 g/L, platelet 200×10(9)/L, reticulocyte 0.62%. Results of serum biochemical tests: total protein (TP) 72.2 g/L (reference value 60 - 80 g/L), albumin 20.4 g/L (reference value 20 - 35 g/L), gammaglobulin 20.4 g/L (reference value 20 - 35 g/L). IgG 5.56 g/L (reference value 7.51 - 15.6 g/L), IgA 0.48 g/L (reference value 0.82 - 4.53 g/L), IgM 0.29 g/L (reference value 0.46 - 3.04 g/L). Peripheral blood lymphocyte subsets: CD3(+)T lymphocyte 43.6% (reference value 64.01% - 75.95%), CD19(+)B lymphocyte 1.00% (reference value 9.02% - 14.1%). Bone marrow smears showed that many of the neutrophils had a reactive appearance, with cytoplasmic vacuolation. Most neutrophils had hypersegmentation with four or five nuclear lobules. In some cells, the filaments connecting the nuclear lobes were long. CXCR4 mutation was detected. CONCLUSION WHIM syndrome is a rare immunodeficiency disorder with an autosomal-dominant pattern of inheritance. The disease is less progressive, and may accompany the patients' whole life.
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[Critical illness polyneuropathy in a patient with Parkinson disease: a case report and review of the literature].
Tan, S, Chen, J, Chen, RQ, Liu, H, Guo, Y, Li, C, Zhang, MH, Chen, ZZ
Nan fang yi ke da xue xue bao = Journal of Southern Medical University. 2011;(10):1792-4
Abstract
OBJECTIVE To report a case of critical illness polyneuropathy (CIP) with Parkinson disease and discuss the development, clinical features and early diagnosis of this condition. METHODS The clinical data of a patient with CIP and Parkinson's disease and the relevant literature were reviewed. RESULTS This case showed no typical disease course of sepsis, and the condition exacerbated rapidly. The patient presented initially with abnormal homeostasis, followed by rapid onset of respiratory muscle weakness to require mechanical ventilation, but no limb weaknesses were detected. Intravenous antibiotics and aggressive treatment of sepsis did not produce any positive responses to wean from mechanical ventilation. Examinations of creatine kinase and cerebrospinal fluid showed no abnormalities. Electromyography and nerve conduction studies demonstrated declined nerve conduction velocity and decreased sensory and motor muscle action potentials, suggesting the possibility of CIP. CONCLUSION In patients with Parkinson disease, the occurrence of sepsis with prolonged mechanical ventilation and limb weakness indicates the necessity of neurophysiological examination, muscle biopsies and laboratory tests, which may help detect CIP in the early phase. Proper interventions of sepsis may reduce the likeliness of CIP. Elimination of the risk factors and aggressive management of sepsis can be effective measures for preventing CIP.