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1.
Ketogenic Diet Attenuates Refractory Epilepsy of Harel-Yoon Syndrome With ATAD3A Variants: A Case Report and Review of Literature.
Chen, Y, Rong, S, Luo, H, Huang, B, Hu, F, Chen, M, Li, C
Pediatric neurology. 2023;:79-83
Abstract
BACKGROUND Harel-Yoon syndrome is a disease caused by variants in the ATAD3A gene, which manifest as global developmental delay, hypotonia, intellectual disability, and axonal neuropathy. The aim of this study is to summarize the clinical and gene mutation characteristics of a child with refractory epilepsy caused by ATAD3A gene mutation. METHODS The whole-exome sequencing combined with copy number variation analysis could help to understand the genetic diversity and underlying disease mechanisms in ATAD3A gene mutation. RESULTS We report a Chinese boy with Harel-Yoon syndrome presenting with refractory epilepsy, hypotonia, global developmental delay, and congenital cataract through whole-exome sequencing. Genetic analysis showed a missense mutation, c.251T>C(p.Thr84Met) in the ATAD3A gene (NM_001170535.1). Further copy number variation analysis identified a novel heterozygous deletion on chromosome1p36.33, which spans ATAD3A exon 1 and 2 regions. Multiple antiepileptic drugs failed to control his seizures. Eventually, seizure was controlled through ketogenic diet (KD). CONCLUSION Our case shows the potential diagnostic role of whole-exome sequencing in Harel-Yoon syndrome and expands the ATAD3A gene mutation spectrum. Multiple antiepileptic drugs failed to control refractory epilepsy in Harel-Yoon syndrome. The KD therapy may be effective for patients with refractory epilepsy who carry the ATAD3A variants.
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2.
Diagnosis and management of vaginal leiomyoma: a case report and literature review.
Chen, M, Li, Y, Chi, Y, Xia, E
Ginekologia polska. 2023;(10):858-861
Abstract
OBJECTIVES Leiomyomas are benign mesenchymal tumors that consist of smooth muscle cells and varying amounts of fibrous stroma. Uterine leiomyomas are the most common, affecting 20% to 30% of reproductive-age women, but vaginal leiomyomas are rare. Treatments gradually diversify with increased awareness of vaginal leiomyoma, but transvaginal fibroid resection remains the commonly used scheme. CASE REPORT Herein, we present the case of a 50-year-old asymptomatic woman who had a mass in the left anterior wall of the vagina discovered by gynecological examination and ultrasound. We used oxytocin diluent injection during surgery to create a water pad in the tissue space and then performed a transvaginal myomectomy. There was little or negligible intraoperative bleeding and no peripheral tissue injury, early or late postoperative complications, incision dehiscence, and no surgical site infection. CONCLUSIONS Transvaginal ultrasonography is the preferred examination for vaginal leiomyomas, and transvaginal myomectomy is the classic treatment method. The formation of a water pad with oxytocin dilution can effectively reduce intraoperative bleeding and shorten surgery time.
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Wilson disease complicated by Crohn disease: A case report and literature review.
Chen, M, Li, C, Peng, S, Liu, M, Li, Y, Sun, M, Sun, X
Medicine. 2023;(24):e33839
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Abstract
RATIONAL Wilson disease (WD), also known as hepatolenticular degeneration, is an autosomal-recessive hereditary disease with abnormal copper metabolism. Crohn disease (CD) is a chronic inflammatory gastrointestinal disease, which belongs to inflammatory bowel disease, all segments of the gastrointestinal tract can be affected, especially the terminal ileum and colon, accompanied by extraintestinal manifestations and related immune disorders. WD complicated by ulcerative colitis has been reported before, but WD complicated by CD has not been reported so far. PATIENT CONCERNS AND DIAGNOSIS We presented the first report of a young patient with WD complicated by CD, who was admitted to the hospital because of repeated low fever, elevated C-reactive protein for 3 years, and anal fistula for 6 months. INTERVENTIONS AND OUTCOMES In this complicated disease, Ustekinumab is safe and effective. LESSONS We conclude that copper metabolism and oxidative stress play important roles in WD and CD.
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Switch/Sucrose Non-Fermentable Complex-Deficient Rhabdoid Carcinoma of Stomach: A Rare Case Report and Literature Review.
Chen, M, Yao, X, Ping, J, Shen, H, Wei, Y, Wang, WL
International journal of surgical pathology. 2023;(7):1364-1374
Abstract
Gastric undifferentiated/rhabdoid carcinoma is a rare highly invasive tumor of epithelial origin. Due to mutations in the switch/sucrose non-fermentable (SWI/SNF) complex, these tumor cells are usually dedifferentiated, presenting a characteristic rhabdoid profile. In this report, we present a gastric rhabdoid carcinoma in a 77-year-old man who presented with intermittent epigastric pain. Gastroscopy revealed a giant ulcer in the antrum, which proved to be a malignant tumor in the biopsy. Therefore, he was admitted to our hospital and underwent laparoscopic radical gastrectomy and D2 lymphadenectomy. The resected neoplasm contained a variety of rhabdoid cells that lacked well-differentiated elements. Immunohistochemical staining revealed that SMARCA4/BRG1 expression was absent in tumor cells. Finally, the patient was diagnosed with undifferentiated/rhabdoid carcinoma of the stomach. The patient was treated with tegafur-gimeracil-oteracil potassium capsules postoperatively. There were no signs of imaging changes observed at the 18-month follow-up. We reviewed similar cases in previous reports. These tumors are more likely to affect older male adults and usually lack typical symptoms. Histologically, most tumor cells are poorly cohesive and rhabdoid, and differentiated compositions of various degrees can occasionally be seen. Positive staining for vimentin was seen in all tumor cells. Epithelial markers are positive in the majority of tumors. SWI/SNF mutant tumors tend to be associated with a poor prognosis. In this review, more than half of the patients died within one year after surgery. The treatments for these diseases are still being explored.
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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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Abstract
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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Atypical hemolytic uremic syndrome induced by CblC subtype of methylmalonic academia: A case report and literature review.
Chen, M, Zhuang, J, Yang, J, Wang, D, Yang, Q
Medicine. 2017;(43):e8284
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Abstract
RATIONALE Methylmalonic acidemia (MMA) is a common organic acidemia, mainly due to methylmalonyl-CoA mutase (MCM) or its coenzyme cobalamin (VitB12) metabolic disorders. Cobalamin C (CblC) type is the most frequent inborn error of cobalamin metabolism; it can develop symptoms in childhood and often combine multisystem damage, which leads to methylmalonic acid, propionic acid, methyl citrate, and other metabolites abnormal accumulation, causing nerve, liver, kidney, bone marrow, and other organ damage. PATIENT CONCERNS A 4-year-old girl presented with paleness, fatigue, severe normochromic anemia, and acute kidney injury. DIAGNOSIS Based on severe normochromic anemia and acute kidney injury, renal biopsy showed membranous proliferative glomerular lesions and thrombotic microvascular disease, supporting the diagnosis of aHUS. Although the serum vitamin B12 was normal, further investigation found the concentration of urinary methylmalonic acid and serum homocysteine increased obviously, genetic analysis revealed a heterozygous MMACHC mutation (exonl: c. 80A >G, c. 609G >A). The final diagnosis was aHUS induced by inherited methylmalonic acidemia (MMACHC heterozygous mutation exonl: c. 80A >G, c. 609G >A). INTERVENTIONS The patient was treated with a 1mg vitamin B12 intramuscular injection daily for 4 days after which the dose was then adjusted to a 1mg intramuscular injection twice a week. At the same time, the girl was given levocarnitine, betaine, folic acid, along with supportive treatment. OUTCOMES After treated by vitamin B12 for 10 days, the patient condition significantly improved, Follow-up results showed complete recovery of hemoglobin and renal function. LESSONS Although the majority of MMA onset from neurological damage, our case illustrates that partial CblC-type MMA can onset with severe metabolic aHUS. On the basis of chronic thrombotic microangiopathy (TMA)-induced renal damage, it can be complicated by acute hemolytic lesions. MMA should be considered in those patients with unclear microangiopathic hemolytic anemia accompany significant megaloblastic degeneration in bone marrow. We should pay attention to the causes and adopt a reasonable treatment strategy.
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Acquired Gitelman syndrome in a primary Sjögren syndrome patient with a SLC12A3 heterozygous mutation: A case report and literature review.
Gu, X, Su, Z, Chen, M, Xu, Y, Wang, Y
Nephrology (Carlton, Vic.). 2017;(8):652-655
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Abstract
Acquired Gitelman's syndrome (GS) associated with Sjögren syndrome (SS) is rare. A 50-year-old woman was admitted to our department because of nausea, acratia and sicca complex. Laboratory tests after admission showed renal failure, hypokalaemia, metabolic alkalosis, hypomagnesaemia and hypocalciuria, all of which met the diagnostic criteria for GS. Diagnostic evaluation identified primary SS as the cause of the acquired GS. Light microscopy of the renal tissue from the patient showed severe membranoproliferative glomerunephritis and tubulointerstitial nephritis. Immunohistochemical staining of the renal tissue showed the absence of sodium-chloride co-transporter (NCCT) in distal convoluted tubules. Genetic analysis of chromosomal DNA extracted from the patient's peripheral blood showed SLC12A3 gene heterozygous mutation. The reported case was comprehensively analyzed on the basis of the clinical features, and laboratory, pathological and genetic test findings. The patient has achieved a complete remission after meticulous care and appropriate treatment.
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Comparison of clinical features in patients with persistent and nonpersistent cryptococcal meningitis: twelve years of clinical experience in four centers in China.
Xu, XG, Pan, WH, Bi, XL, Fang, W, Chen, M, Zhu, Y, Zhou, J, Zhou, N, Pan, B, Li, M, et al
CNS neuroscience & therapeutics. 2013;(8):625-31
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Abstract
BACKGROUND AND AIMS Cryptococcal meningitis (CM) has gradually increased in the recent 20 years in the whole world. Although the mortality decreased significantly in recent years, it was still high, especially in patients with persistent infection. Therefore, we compare differences of clinical features between persistent and nonpersistent CM patients. METHODS We conducted a retrospective review of medical records of patients diagnosed with CM from January 2000 to December 2011 in four centers in China, including demographic features, underlying diseases, clinical presentations, laboratory data, and so on. RESULTS Of 106 CM patients enrolled, 16 were identified as persistent cases. Among all variables, persistent CM patients were more like to be human immunodeficiency viruses (HIV) infection (P < 0.05), stiff neck (P < 0.01), a serum hemoglobin < 90 g/L (P < 0.01), a serum potassium concentration <2.7 mg/L (P < 0.01), an intracranial pressure (ICP) >400 mmH2 O (P < 0.01), and a latex agglutination cryptococcal antigen titer of cerebrospinal fluid (CSF LACT) >1:1024 (P < 0.01) than nonpersistent ones. A multivariate analysis showed that HIV infection (OR 7.49), stiff neck (OR 11.7), a serum potassium <2.7 mmol/L (OR 9.45), and an ICP >400 mmH2 O (OR 6.83) were closely correlated with persistent CM. CONCLUSIONS Although it is difficult to deal with persistent CM nowadays, some cases could be predicted early enough in the future, so as to be treated appropriately and have relatively good outcomes.