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1.
A novel heterozygous variant of FOXJ1 in a Chinese female with primary ciliary dyskinesia and hydrocephalus: A case report and literature review.
Gao, S, Zhang, Q, Feng, B, Gu, S, Li, Z, Sun, L, Yao, RE, Yu, T, Ding, Y, Wang, X
Molecular genetics & genomic medicine. 2023;(9):e2235
Abstract
BACKGROUND Primary ciliary dyskinesia (PCD) is a type of ciliary dyskinesia that is usually caused by autosomal recessive inheritance and can manifest as recurrent respiratory infections, bronchiectasis, infertility, laterality defects, and chronic otolaryngological disease. Although ependymal cilia, which affect the flow of cerebrospinal fluid in the central nervous system, have much in common with respiratory cilia in terms of structure and function, hydrocephalus is rarely associated with PCD. Recently, variants of Forkhead box J1 (FOXJ1) have been found to cause PCD combined with hydrocephalus in a de novo, autosomal dominant inheritance pattern. METHODS We performed DNA extraction, whole-exome sequencing (WES) analysis, and mutation analysis of FOXJ1 and analyzed the patient's clinical and genetic data. RESULTS The patient was a 4-year-old female exhibiting normal growth and development. At 3 years and 2 months of age, the patient experienced hand shaking and weakness in the lower limbs. Cardiac ultrasonography showed a right-sided heart, and cranial magnetic resonance imaging showed obstructive hydrocephalus. The nasal nitric oxide level was 54 nL/min. WES indicated a de novo, heterozygous variant of FOXJ1, c.734-735 ins20. This variant was novel, not included in the Human Gene Mutation and Genome Aggregation Database, and likely pathogenic according to the American College of Medical Genetics and Genomics, causing earlier termination of amino acid translation. The patient underwent a neuroendoscopic third ventriculostomy after the diagnosis of obstructive hydrocephalus. Six months after the operation, the patient's motor deficits had improved. CONCLUSION This is the first report of a de novo, autosomal dominant pattern of FOXJ1 causing PCD combined with hydrocephalus in China. The patient's clinical symptoms were similar to those previously reported. WES confirmed that a novel variant of FOXJ1 was the cause of the PCD combined with hydrocephalus, expanding the spectrum of the genotypes associated with this condition. Physicians should be aware of the correlation of hydrocephalus and PCD and test for FOXJ1 variants.
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2.
Analysis of clinical characteristics of Kounis syndrome induced by contrast media.
Wang, C, Deng, Z, Song, L, Sun, W, Fang, W, Li, Z
The American journal of emergency medicine. 2022;:203-207
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Abstract
BACKGROUND Understanding the relationship between contrast agents and Kounis syndrome (KS) is mainly based on case reports. The purpose of this research is to explore the clinical characteristics of contrast media induced KS. METHODS We searched for contrast-induced KS case reports through Chinese and English databases from 1991 to October 31, 2021. RESULTS A total of 26 patients (19 men and 7 women,) were included, with a median age of 60 years (range 30-83). The contrast agents that cause KS mainly included gadolinium-based contrast agent (7 cases), iodine-containing contrast media (12 cases). KS mainly occurred within 30 min after administration and mainly manifests as chest pain and allergic reactions. Electrocardiogram (ECG) mainly showed ST elevation. Echocardiography mainly revealed normal. Coronary angiography showed normal, coronary vasospasm, stent thrombosis, occlusion and stenosis. After treatment with steroids, antihistamines and anti-ischemic therapy, 24 patients recovered completely and 2 patients died. CONCLUSIONS KS is a rare adverse reaction of contrast media. Radiologists should recognize this rare but serious disease to ensure rapid diagnosis and proper management.
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Malignant Gastrointestinal Neuroectodermal Tumor in the Right Heart: A Report of an Extremely Rare Case Presenting With a Cardiac Mass.
Li, Z, Pu, X, He, L, Fu, Y, Li, L, Xu, Y, Guan, W, Fan, X
Frontiers in cardiovascular medicine. 2021;:702215
Abstract
Malignant gastrointestinal neuroectodermal tumor (GNET) is an extremely rare soft tissue sarcoma and has been designated as a new entity recently. At present, GNET virtually exclusively occurs in the gastrointestinal tract. Here we report a case of extra-GNET that arose in the right heart. A 62-year-old male complained of chest distress and breathing difficulty while lying down at night for over 1 month at admission. The radiological findings revealed an occupying lesion involving the right atrium and the right ventricle without any abdominal abnormalities. The patient then underwent a surgical resection. Microscopically, neoplastic cells proliferated in the pattern of nests and sheets with fibrous separation. Focal areas with cellular dyscohesion imparted a vague pseudopapillary pattern. These tumor cells were small to medium in size with fine chromatin and predominantly pale eosinophilic cytoplasm. The nuclei were typically round to oval with somewhat irregular contours and contained small nucleoli. The mitotic figures were easily found. Immunohistochemically, the neoplastic cells were positive for S100 and SOX-10 but negative for HMB-45, A103, and CD99. EWSR1-AFTF1 rearrangement was detected by fluorescence in situ hybridization and further confirmed by whole-transcriptome sequence analysis. The patient had pulmonary metastasis 8 months later and soon died of the disease. The overall survival of the patient was 20 months. In summary, we reported an extremely rare case of cardiac GNET, indicating that the location of GNET should not be confined to the GI tract as initially defined. Due to the lack of a specific effective treatment and the occurrence of early metastasis, cardiac GNET conferred a poor prognosis. More clinical and experimental studies are warranted to better manage this disease in the future.
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Juvenile Xanthogranuloma of the Sellar Region with a 5-Year Medical History: Case Report and Literature Review.
Cheng, D, Yang, F, Li, Z, Qv, F, Liu, W
Pediatric neurosurgery. 2021;(5):440-447
Abstract
INTRODUCTION Xanthogranuloma of the sellar region is a rare benign lesion, and there are few cases reported in children. Its histogenesis is controversial, and it is difficult to strictly differentiate it from craniopharyngioma (CP), Rathke's cleft cyst, or pituitary adenoma. CASE PRESENTATION A 16-year-old boy presented with a rare xanthogranuloma of the sellar region after complaining of retardation of growth 5 years previously. The ophthalmologic evaluation revealed no visual field disturbance. Endocrinological examination revealed hypopituitarism. Magnetic resonance imaging showed an intrasellar mass extending into the suprasellar region and compressing the optic chiasma, which appeared mixed signals on T1-weighted images. Endonasal transsphenoidal resection of the tumor was performed. Histological analysis of the tumor sections demonstrated granulomatous tissue with cholesterol clefts, hemosiderin deposits, fibrous tissues, multinucleated giant cells, and lymphocyte. Thus, the tumor was pathologically diagnosed as xanthogranuloma of the sellar region, which is different from adamantinomatous CP. There was no epithelial tissue in any part of the tumor including tumor capsule but have focal necrosis and calcification. His endocrinological dysfunction did not recover, so a hormonal replacement was continuously required. CONCLUSION Xanthogranuloma of the sellar region is a rare entity but must be considered in the differential diagnosis of lesions of the sellar region, even in pediatric population. We should think about this disease when dealing with children with stunted growth accompanied by a long medical history. Our case demonstrates the natural progression of the disease, suggesting that xanthogranuloma of the sellar region without epithelial components may be an independent disease.
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Rare genetic E196A mutation in a patient with Creutzfeldt-Jakob disease: a case report and literature.
Wu, X, Cui, Z, Guomin, X, Wang, H, Zhang, X, Li, Z, Sun, Q, Qi, F
Prion. 2020;(1):143-148
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Abstract
Genetic Creutzfeldt-Jakob disease (gCJD) is characterized by mutations in the PRNP gene and represents approximately 10-15% of the human prion diseases. Here, we report a 42-year-old Chinese man who was diagnosed with gCJD. The patient had a rare mutation in codon 196 (E196A) of PRNP leading to an exchange of amino acid from glutamic acid (E) to alanine (A). The polymorphism of codon 129 in the patient was methionine homozygote. His mother and daughter are asymptomatic carriers of the same mutation. The clinical manifestations were similar to those of sporadic CJD. 14-3-3 protein was positive in cerebrospinal fluid, and there were sharp slow complex waves in electroencephalography and ribbon-like signals on magnetic resonance imaging (MRI). The main complaints of patient changed from visual space and visual colour to psychotic symptoms with enhanced high signal intensity on the occipital and frontal cortices on MRI. We compared the clinical characteristics of the current patient with those of previously reported Chinese patients with other gCJD of E196A mutation to summarize the common features of E196A gCJD.
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Hemophagocytic lymphohistiocytosis resulting from a cytokine storm triggered by septicemia in a child with chronic granuloma disease: a case report and literature review.
Wei, A, Ma, H, Zhang, L, Li, Z, Zhang, Q, Wang, D, Zhang, L, Lian, H, Zhang, R, Wang, T
BMC pediatrics. 2020;(1):100
Abstract
BACKGROUND Hemophagocytic lymphohistiocytosis (HLH) is a rare potentially fatal illness characterized by impaired natural killer and cytotoxic T cell function. Chronic granulomatous disease (CGD) is an inherited immune deficiency caused by a defect in the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. CGD patients display an increased susceptibility to infection with bacteria and fungi. Repeated infections lead to an increased risk for developing HLH. The case of CGD with repeated Salmonella septicemia complicated with HLH is very rare, and the CGD mutation identified has not been reported. CASE PRESENTATION A 3-year-old boy was admitted to our hospital for fever, hepatosplenomegaly and pancytopenia. According to the clinical manifestations and laboratory results, hemophagocytic lymphohistiocytosis (HLH) was diagnosed. Blood and bone marrow culture confirmed septicemia due to Salmonella Typhimurium. On the basis of antiinfection treatment, methylprednisolone was used to control HLH. After treatment, the clinical symptoms and laboratory results improved. Gene analysis showed a novel hemizygous CYBB gene mutation: c.302A > G (p.H101P). Combined with a past history of recurrent infection, the child was diagnosed with HLH secondary to CGD triggered by septicemia. CONCLUSIONS In case of a known (or highly suspected) CGD with a documented infection, clinical or biological features of HLH should encourage the physician to make possible to confirm or not the HLH. Therefore, to initiate the adequate treatment in association with anti-infective therapy.
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Kyphoscoliosis with Klippel-Trenaunay syndrome: a case report and literature review.
Zhai, J, Zhong, ME, Shen, J, Tan, H, Li, Z
BMC musculoskeletal disorders. 2019;(1):10
Abstract
BACKGROUND Klippel-Trenaunay syndrome (KTS) is a rare congenital syndrome characterized by the triad of venous varicosities, capillary malformations and limb hypertrophy. However, KTS may rarely occur in combination with kyphoscoliosis. CASE PRESENTATION We presented an 18-year-old female with KTS and kyphoscoliosis. Hypertrophy of bone and soft tissue affected her left face, trunk and lower limb. Moreover, the patient is associated with subacute thyroiditis, vitamin D deficiency and iron deficiency anemia, high level of D-dimer, swollen tonsil, kyphoscoliosis and Chiari-I-malformation without syringomyelia. A posterior correction and spinal fusion from T10 to L5 levels were performed for this patient. The lumbar curve was corrected from 105° to 60° and the kyphosis improved from 58° to 26°. The distance of trunk shift decreased from 10 cm to 1.4 cm. There were no thrombotic events occurred. At the 8th month follow-up, there was no significantly change of the curve in the coronal and sagittal radiographs. During the 31-month follow-up, the patient did not experience any discomfort. And her general appearance did not have any change until the last follow-up. However, she refused to take radiograph for worrying about radiation. CONCLUSIONS KTS is a rare disease with classic clinical triad. However, it can also have other different features, including kyphoscoliosis, elevated D-Dimer, vitamin D deficiency and iron-deficiency anemia. These issues should be taken into consideration when planning treatment for kyphoscoliosis in KTS patients.
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Hereditary renal amyloidosis with a variant lysozyme p.Trp82Arg in a Chinese family: case report and literature review.
Li, Z, Xu, H, Liu, D, Li, D, Liu, G, Wang, SX
BMC nephrology. 2019;(1):310
Abstract
BACKGROUND Lysozyme amyloidosis is a rare hereditary systemic amyloidosis with amyloid deposits in various tissues leading to progressive organ failure. It has been mainly reported in developed countries since 1993. Here we report a lysozyme amyloidosis family with variant lysozyme p.Trp82Arg in a Chinese family. CASE PRESENTATION The main clinical manifestation of this case was dominant kidney involvement presenting with proteinuria and decreased renal function. Biopsy of the kidney showed massive amyloid deposits in the glomerular mesangium and subendothelium. Immunohistochemistry and mass spectrometry of renal tissue confirmed the lysozyme nature of the amyloid. DNA sequencing of the peripheral blood leukocytes revealed a single base-pair transition from T to C (TGG/ CGG) of codon 82, leading to the replacement of tryptophan by arginine in the mature protein (p.Trp82Arg). The affected patients in this family also presented with dominant kidney involvement, one of them has been confirmed by IHC and mass spectrometry on his renal biopsy and gene testing as well. As there is no radical therapy for lysozyme amyloidosis, patients were given symptomatic treatment such as antihypertensive drugs and antibiotics. To our knowledge, this is the first report of lysozyme amyloidosis in a Chinese family. CONCLUSIONS Hereditary amyloidosis with a variant lysozyme of p.Trp82Arg presented with dominant kidney involvement was firstly reported in a Chinese family.
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Azathioprine-induced pellagra in neuromyelitis optica: A case report and review of literature.
Zhao, C, Liu, T, Ma, C, Li, H, Li, Z, Guo, J
Multiple sclerosis and related disorders. 2018;:104-107
Abstract
Neuromyelitis optica (NMO), also known as Devic's disease, is a classical autoimmune disorder of the central nervous system (CNS). The relapsing-remitting disease course contributes to application of a variety of immunosuppressants to prevent further relapses after high-dose methylprednisolone pulse therapy for acute attacks. Azathioprine is one of the most widely used immunosuppressive drugs during the remission stage of NMO due to its good efficacy and favorable side-effect profile. Even if, enough attention should be paid to some rare but devastating adverse events, such as pellagra. Herein, we reported that a well-nourished patient experienced serious pellagra while receiving oral azathioprine for treating her NMO. Moreover, literature on azathioprine-induced pellagra was reviewed to raise concerns regarding patient safety.
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Continuous renal replacement therapy-the new treatment of seriously hyperglycemia.
Tang, Q, Li, Z, Huang, D, Wang, C, Jiang, X, Cheng, C, Chen, Y
The American journal of emergency medicine. 2016;(12):2469.e3-2469.e4