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1.
Recurrent Cerebral Infarction Due to Moyamoya Disease Complicated With Systemic Lupus Erythematosus: A Case Report and Literature Review.
Wang, Q, Yao, Q, Yuan, S, Shen, Y, Feng, Y, Liu, L, Zhu, Y, Zhao, Y, Cui, J, Qin, J, et al
The neurologist. 2024;(1):4-13
Abstract
INTRODUCTION We report a rare case of moyamoya disease caused by an RNF213 mutation, complicated with systemic lupus erythematosus. CASE REPORT A 32-year-old woman experienced 4 cerebral ischemia stroke events within 6 months. The main symptom was left limb weakness with blurred vision in the right eye. Results of digital subtraction angiography conducted at another hospital were consistent with moyamoya disease. On genetic testing, we found that the patient carried 2 mutations in the moyamoya disease-related gene RNF213 (p.R4810K, p.T1727M). On the basis of the laboratory immunologic indicators, such as positive antibodies and abnormal immunoglobulin levels and imaging examinations, the patient was finally diagnosed as moyamoya disease complicated with systemic lupus erythematosus. She was treated with aspirin, butylphthalide, urinary kallidinogenase, and sodium methylprednisolone. CONCLUSIONS This was a 32-year-old young patient diagnosed with moyamoya disease carrying RNF213 gene mutation and accompanied by lupus with cerebral ischemic event as the first occurrence. The patient's condition was complex; therefore, comprehensive analysis and in-depth consideration were needed to avoid a missed diagnosis and misdiagnosis. When the primary disease cannot be identified, genetic testing can help to clarify the diagnosis of moyamoya disease.
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Does Intradialytic Group Exercise Programme Influence Patient-Reported Outcomes, Laboratory Parameters, and Anthropometric Parameters in Maintenance Hemodialysis Patients? A Single-Group Repeated-Measures Trial.
Zhou, L, Shi, D, Zhang, L, Wang, Q, Chen, L, Chen, H
Patient preference and adherence. 2023;:491-501
Abstract
BACKGROUND Maintenance hemodialysis(MHD) patients often suffer from fatigue and are recommended to undertake physical activities. The optimal format of exercise rehabilitation for MHD patients remains uncertain despite demonstrated health benefits. This study aimed to evaluate the effectiveness of an intradialytic group exercise programme for MHD patients. METHODS This was a single-centre, single-group repeated-measures design study. The 12-week, three times per-week intradialytic group exercise programme was conducted for around 30 min during the first 2 hours of each dialysis session. Patient-reported outcomes including fatigue, anxiety, depression and health-related quality of life, laboratory parameters including haemoglobin, albumin, pre-albumin and hypersensitive C-reactive protein, and anthropometric parameters including triceps skinfold thickness, mid-upper arm circumference, mid-arm muscle circumference and handgrip strength, were measured at baseline, immediately post-intervention and 12-weeks post-intervention. The repeated-measures analysis of variance and Friedman test were used to compare the parametric and non-parametric data across time points, respectively. RESULTS Ninety patients were enrolled and 75 completed. Participants reported significant improvements across time points in fatigue (F = 10.19, p < 0.01), depression (F = 19.20, p < 0.001), health-related quality of life (F = 5.36, p = 0.006), haemoglobin (F = 3.43, p = 0.047), albumin (F = 4.42, p = 0.032), hypersensitive C-reactive protein (χ 2 = 50.39, p < 0.001), pre-albumin (χ 2 = 11.85, p = 0.003), triceps skinfold thickness (F = 25.03, p < 0.001), mid-upper arm circumference (F = 6.32, p = 0.005), mid-arm muscle circumference (F = 4.89, p = 0.02), and handgrip strength (F = 13.59, p < 0.001). Although the mean anxiety score tended to reduce, the difference across time points was nonsignificant (F = 1.33, p = 0.27). CONCLUSION The findings suggested that the intradialytic group exercise programme could improve MHD patients' fatigue, depression, health-related quality of life, nutritional status, and inflammation. TRIAL REGISTRATION Chinese Clinical Trial Registry ChiCTR2000034394 (04/07/2020).
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Hydrocephalus presented as the prominent symptom of severe 5,10-methylenetetrahydrofolate reductase deficiency in an infant: A case report.
Ding, Y, Wang, Q, Gong, CX
Medicine international. 2022;(2):12
Abstract
Hyperhomocysteinemia is a common medical condition observed in patients with aminoaciduria. Deficiency in cystathionine beta-synthase, metabolism of cobalamin associated C, peroxiredoxin 1, 5-methyltetrahydrofolate-homocysteine methyltransferase reductase, LMBR1 domain containing 1, 5-methyltetrahydrofolate-homocysteine methyltransferase or 5,10-methylenetetrahydrofolate reductase (MTHFR) all can result in an elevation in plasma homocysteine, which has been reported to be a risk factor of vascular events, such as atherosis, acute myocardial infarction and cerebral stroke. Hyperhomocysteinemia due to the deficiency of 5,10-methylenetetrahydrofolate reductase (MTHFR; also known as 5,10-methyl THR reductase) is an autosomal recessive rare disease caused by defects in the MTHFR gene. The clinical manifestations of this disorder are heterogeneous, ranging from asymptomatic to severe neurological disorders. However, hydrocephalus has seldomly been reported in patients with MTHFR deficiency. The present study thus describes a case of severe MTHFR deficiency in an infant, whose main manifestation was hydrocephalus. The clinical course and genotype of the patient were also examined. Specifically, a 4-month-old boy with hydrocephalus was admitted to hospital. Clinical examinations and genetic sequencing of the patient were performed to determine the probable causative factors. A physical examination revealed that the patient had developmental delay and progressive hydrocephalus. Amino acid analysis of the blood revealed an enhancement in serum homocysteine levels and a decrease in blood methionine and free carnitine levels. The organic acid levels in urine were normal. Therefore, he was diagnosed with hyperhomocysteinemia. Targeted next-generation sequencing was performed to determine the pathogenetic gene in this case. A paternal mutation c.1530G>A (p.K510K) and a maternal mutation c.233C>A (p.S78X) were identified. Previous experimental evidence indicated that these two mutations were all pathogenic; therefore, this patient was ultimately diagnosed with MTHFR deficiency. The patient in described herein study presented with severe progressive hydrocephalus in association with a delayed developmental milestone. According to the clinical and genetic tests, the patient was diagnosed with severe MTHFR deficiency. It thus is recommended that screening for metabolites and performing gene sequencing in infants presenting with undisclosed hydrocephalus.
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Gastroblastoma Treated by Endoscopic Submucosal Excavation with a Novel PTCH1::GLI2 Fusion: A Rare Case Report and Literature Review.
Liu, Y, Wu, H, Wu, X, Feng, Y, Jiang, Q, Wang, Q, Yang, A
Current oncology (Toronto, Ont.). 2022;(11):8862-8873
Abstract
Gastroblastoma is an extremely rare stomach tumor that primarily presents in adolescent and early adulthood, with a biphasic cell morphology of epithelioid and spindle cells. In light of its similarity to other childhood blastomas, it has been named gastroblastoma. Few patients showed a potential of metastasis and recurrence, however, most of the reported cases were alive, with no evidence of the disease after surgical treatment. Commonly, MALAT1-GLI1 fusion has been considered to be the most relevant mutation. Herein, we present a case of an asymptomatic 58-year-old man who happened to find a submucosal gastric mass during a gastroscope and received endoscopic submucosal excavation (ESE). He turned out to have a gastroblastoma with a novel PTCH1::GLI2 fusion confirmed by Sanger sequencing. The patient was discharged two days after ESE without any complication and was recurrence-free during his one-year follow-up. According to the previous literature and our own experience, in cases with characteristic histopathology and immunohistochemistry patterns, a diagnosis of gastroblastoma should be considered even without a MALAT1-GLI1 fusion. Gastroblastoma pursues a favorable clinical outcome and endoscopic therapy could be an effective alternative treatment choice.
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Hyperemesis gravidarum induced refeeding syndrome causes blood cell destruction: a case report and literature review.
Pan, X, Chu, R, Meng, J, Wang, Q, Zhang, Y, Song, K, Yang, X, Kong, B
BMC pregnancy and childbirth. 2021;(1):366
Abstract
BACKGROUND Hyperemesis gravidarum (HG) is a common complication during pregnancy, however, HG associated simultaneous onset of blood cell destruction due to electrolyte abnormalities is rare. In this case, a woman with refeeding syndrome (RFS) secondary to electrolyte abnormalities caused by severe HG was diagnosed and managed in our hospital. CASE PRESENTATION A 29-year old woman was sent to the local hospitals because of severe HG with appetite loss, weight reduction, general fatigue, and she was identified to have severe electrolyte abnormalities. However, the electrolyte abnormalities were not corrected promptly, and then she had the symptoms of stillbirth, altered mental status, visual hallucination, hemolytic anemia and thrombocytopenia. After transferred to our hospital, we continued to correct the electrolyte abnormalities and the labor induction was performed as soon as possible. The symptoms of blood cell destruction were relieved obviously, and the patient discharged four days later. The electrolyte disturbances and physio-metabolic abnormalities caused by HG helped us diagnose this case as RFS. CONCLUSIONS This case emphasizes that patients with RFS should be diagnosed appropriately and intervened promptly in order to prevent electrolyte imbalance induced blood cell destruction.
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6.
Vocal cord paralysis due to ectopic parathyroid adenoma and function recovery: a case report and review of the literature.
Zhao, T, Xin, Y, Shen, H, Liu, X, Wang, J, Wang, Q, Wei, B
Endocrine journal. 2020;(2):161-165
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Abstract
Ectopic parathyroid adenomas (PAs) can occur in numerous locations and are thought to be the cause of a significant portion of failed primary surgery for hyperparathyroidism. PA is a rare cause of hoarseness, which may be harbingers of a malignant process. Here, we describe an unusual case of an ectopic PA in the carotid sheath presenting as unilateral vocal cord paralysis (VCP). A 49-year-old lady presented with a 1-week history of hoarseness, irritating cough and shortness of breath. Fibreoptic laryngoscopy revealed left VCP. Ultrasound and computed tomography of the neck demonstrated a mass in the carotid sheath. Laboratory investigations revealed hypercalcemia (3.10 mmol/L), hypophosphatemia (0.81 mmol/L) and elevated intact parathyroid hormone (iPTH) level (381.6 pg/mL), despite of a negative 99mTc-sestamibi scan. After more rigorous tests, the ectopic tumor adjacent to the left vagus nerve was successfully resected, with subsequent histopathological confirmation of PA. The patient eventually got a normal iPTH level and serum calcium postoperatively, and regular voice function was also regained 4 months after surgery. This case emphasizes the importance of broad differential diagnosis and thorough workup. Although most patients with PA present with hypercalcemia, this disease entity also need to be considered in the differentials of neck masses and VCP.
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Primary Colonic Angiosarcoma Seen in a Patient on Calcium Channel Blocker: A Case Report with Summary Analysis of 32 Other Cases from the Literature.
Wang, Q, Zhao, T, Mi, BT, Zhang, YL, Wei, R, Tong, HL, Wu, M
The American journal of case reports. 2018;:254-261
Abstract
BACKGROUND Angiosarcoma is a rare malignant mesenchymal tumor of vascular endothelial cell origin. Its occurrence in the colorectal region is extremely rare. Only 32 cases of primary colorectal angiosarcoma are reported in the current literature. Angiosarcoma in association with calcium channel blocker has been rarely reported. We present such a case of a patient who had been on levamlodipine besylate, a calcium channel blocker, for over 10 years. CASE REPORT A 53-year-old female with hypertension presented with a fever, a dry cough, and hematochezia. Computed tomography (CT) scan and angiography demonstrated a 6-cm vascular mass in the ileocecal region. The clinical symptoms stopped soon after a right hemicolectomy. The histopathology with immunohistochemical studies confirmed the diagnosis of angiosarcoma. Three months after surgery, the patient had evidence of recurrence of the tumor, however, she no longer presented with a fever or a dry cough. The patient was receiving chemotherapy at the time of the report. CONCLUSIONS Colorectal angiosarcoma is a rare malignancy of endothelial origin with uncertain etiology and often has a poor prognosis. Angiosarcoma seen in a patient taking calcium channel blocker is rare but alarming. CT scan and angiography are helpful tools to raise the suspicion of the diagnosis. A definitive pathological diagnosis relies on histopathology with immunohistochemical stains of endothelial markers. Surgical resection is still the best choice of the different treatment options.
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Coenzyme Q10 supplementation therapy for 2 children with proteinuria renal disease and ADCK4 mutation: Case reports and literature review.
Feng, C, Wang, Q, Wang, J, Liu, F, Shen, H, Fu, H, Mao, J
Medicine. 2017;(47):e8880
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Abstract
RATIONALE Mitochondrial nephropathy has a poor prognosis and often progresses to the end-stage renal disease. Renal pathology often is focal segmental glomerulosclerosis (FSGS) and does not respond to steroid therapy or immunosuppressive therapy. Some patients are benefited from the therapy of coenzyme Q10, which affect the synthesis pathway of coenzyme Q10. PATIENT CONCERNS Herein, we report 2 cases of children with proteinuria renal disease with ADCK4 mutation. DIAGNOSES Proteinuria renal disease with ADCK4 mutation. INTERVENTIONS Compound heterozygous mutation in ADCK4 gene were detected with next-generation sequencing and confirmed by Sanger sequencing. Both of the patients were given coenzyme Q10 supplementation therapy. OUTCOMES The first patient showed a decreased proteinuria after coenzyme Q10 supplementation therapy, while the other was not improved. LESSONS Based on the cases we reported and from the literature, recognition of ADCK4 mutation through early and accurate genetic screening could be helpful in avoiding unnecessary toxicities and in preventing complications arising in mitochondrial nephropathy.
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[Two cases with generalized intracranial calcification due to hereditary folate malabsorption and literature review].
Zhang, Y, Wang, Q, Li, DX, Liu, YP, Song, JQ, Li, MQ, Qin, YP, Yang, YL
Zhonghua er ke za zhi = Chinese journal of pediatrics. 2016;(12):931-935
Abstract
Objective: This study aimed to investigate the clinical, biochemical and genetic features of two Chinese children with hereditary folate malabsorption. Method: Clinical features, laboratory examinations, treatment and SLC46A1 gene of two cases were studied. Reports on hereditary folate malabsorption utill September of 2016 were searched and the clinical and genetic characteristics of reported cases were summarized. Result: The two patients presented with megaloblastic anemia from their infant period and seizures, psychomotor retardation and regression. In case1, mean corpuscular volume (MCV) was 100 fl. Serum folate was 9.96 nmol/L. Folate and 5-methylenetetrahydrofolate in cerebrospinal fluid were 0 and 0.01 separately. In case 2, MCV was 93.9 fl. Serum folate was 4.49 nmol/L. The concentration of folate and 5-methylenetetrahydrofolate in cerebrospinal fluid were both zero. On their brain CT, progressive bilateral symmetrical calcification was observed. On their SLC46A1 gene, four mutations were identified. Case 1 had one novel mutation, c. 1238T>C (L413P) and c. 194-195insG (p.Cys66LeufsX99). From Case 2, two reported mutations, c. 1A>T (M1L) and c. 194-195insG (p.Cys66LeufsX99) were identified. The administration of folinic acid (60 to 120 mg per day) was initiated after diagnosis. Clinical improvement and normalized hematologic markers were observed after treatment. Totally 37 cases were reported in reviewed English literature, including 30 cases with mutations on SLC46A1 gene (only one Chinese patient). All the cases had the onset in infancy. The ratio of boys to girls was 1 to 1.5. Main manifestations were characterized by megaloblastic anemia (77%), failure to thrive (50%), diarrhea (27%), psychomotor retardation (63.6%), epilepsy (27%), and infection of respiratory system (45.5%). The concentration of folate in both serum and cerebrospinal fluid was decreased (72.7% and 63.6% respectively). Hypoimmunoglobulinemia accounted for 27.3%. Most of mutations in HFM were distributed between p. 65 and p. 68 (c.194-c.204), mainly due to insertion- or deletion-related frame shifts or generation of stop codons. Oral and parenteral folinic acid treatment was effective. Conclusion: Hereditary folate malabsorption often presented with megaloblastic anemia, abnormalities of digestive and nervous system, and hypoimmunoglobulinemia with recurrent infections. Low level of serum and CSF folate and screening SLC46A1 gene are keys to the etiologic study of the patients. Early supplement with folinic acid is beneficial to the prognosis.
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Basal cell adenoma of nasal septum: report of a case and review of literature.
Wang, Q, Chen, H, Wang, S
International journal of clinical and experimental pathology. 2015;(2):2176-9
Abstract
Basal cell adenoma is an uncommon benign salivary gland neoplasm, presenting isomorphic basaloid cells with a prominent basal cell layer. Basal cell adenoma arising from the nasal septum is exceptionally rare. Reports on positron emission tomography with 2-deoxy-2-fluorine-18-fluoro-D-glucose (18FDG-PET) imaging for basal cell adenoma are limited. Here, we present the case of a 49-year-old man who had the symptoms of intermittent repeated bleeding from the left nose for half a year. 18FDG-PET scanning showed increased accumulation of 18FDG with its characteristic benign pathology has a potential to malignancy. After removal of the mass, the patient became symptom free. Pathology showed basal cell adenoma. The evidence of active and growing cells was present in the specimen.