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1.
Clinical manifestations and outcomes in tubulointerstitial nephritis and uveitis syndrome: a case report and a systematic review in China.
Shi, J, Xu, S, Chen, J, Wu, H
International urology and nephrology. 2024;(4):1415-1427
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Abstract
PURPOSE Tubulointerstitial nephritis and uveitis (TINU) syndrome is an uncommon disease. We present a confirmed case of TINU syndrome, and a systematic review of epidemiological characteristics, clinical manifestations, management, and outcomes in Chinese patients. METHODS A systematic search was carried out using defined terms and updated up to September 2022, in PubMed, Web of Science, Wanfang, CNKI, and VIP, to identify reported cases of TINU in China, according to PRISMA guidelines. RESULTS An 18-year-old boy presented with elevated serum creatinine and 24-h urine protein level of > 2 g. Inspection result revealed acute tubulointerstitial nephritis, and bilateral uveitis. The patient was diagnosed with TINU syndrome and received treatment with methylprednisolone sodium succinate, which resulted in a significant decrease in creatinine and urinary protein levels. Systematic review identified 35 publications that met the inclusion criteria. A total of 71 cases were included in this article, of which 70 were from publications and 1 was from our hospital. The median age at onset was 42 years and was significantly lower in males than females (P < 0.05). The symptoms of uveitis often occurred after kidney injury (54%) and most uveitis was anterior (55%) and bilateral (75%). Among the 51 patients who were followed up for more than 6 months, 24 had recurrent ocular symptoms or progression to chronic uveitis. Twenty patients experienced chronic or progressive kidney disease. CONCLUSION TINU syndrome is prone to misdiagnosis because kidney damage may not occur simultaneously with uveitis. The incidence of kidney sequelae in children is lower than that in adults, and glucocorticoids are the preferred treatment. INPLASY REGISTRATION NUMBER INPLASY202350050.
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A case report of superficial siderosis of the central nervous system and literature review.
Huang, J, Xie, G, Chen, J, Huang, Y
The Journal of international medical research. 2023;(9):3000605231198389
Abstract
Superficial siderosis of the central nervous system (SSCNS) is a rare disease characterized by iron deposition on the tissue surface of the middle axis system. We report the case of a man in his late 40 s who was admitted to the hospital with ataxia. A physical examination revealed cerebellar ataxia, sensorineural deafness, and bilateral pyramidal tract injury. Susceptibility-weighted magnetic resonance imaging showed linear hypointense signals on the surface of the cerebral hemispheres, sulcus gyrus, lateral ventricles, and cerebellum. The patient underwent treatment with deferiprone, mecobalamin, and vitamin B1, and the symptoms were not aggravated. The patient's daily living ability was near normal after 1 year of follow-up. A literature review indicated that most SSCNS patients present diverse clinical manifestations. Clinicians may consider SSCNS in patients with hearing impairment and gait ataxia, especially for those receiving anticoagulant therapy and with a history of brain injury or accident.
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Successful treatment with secukinumab of psoriasis-like dermatitis in a patient with holocarboxylase synthetase deficiency.
Liu, H, Wei, R, Yang, Y, Zhang, Z, Yang, Y, Tang, J, Chen, J, Zhang, J, Gu, Y, Yao, Z
The Journal of dermatology. 2023;(3):401-406
Abstract
Holocarboxylase synthetase deficiency (HSD) is a rare autosomal recessive disorder of biotin metabolism. Typical manifestations include irreversible metabolic disorders and erythroderma-like dermatitis. Most patients respond well to biotin supplementation. Psoriasis-like phenotype associated with this disease has been rarely reported in the literature and experiences with the use of biologics in patients with HSD are still lacking. We reported a rare case of recurrent psoriasis-like skin lesions in a 6-year-old child with HSD. The patient did not respond to initial therapy with high-dose oral biotin. Immunofluorescence staining showed an increased number of interleukin (IL)-17A+ cells in his skin lesions. Based on this finding, the patient was successfully treated with human anti-IL-17A monoclonal antibody (secukinumab). He did not report any side effects and remained healthy during the 2-year follow-up. We provide a comprehensive review of the reported cases of HSD with psoriasis-like dermatitis to date. The psoriasis-like phenotype of HSD is controversial in treatment and IL-17A inhibitor is an alternative therapeutic option.
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4.
Selective venous sampling in primary hyperparathyroidism caused by ectopic parathyroid gland: a case report and literature review.
Yang, X, Chen, X, Xu, H, Chen, J, Yao, B, Lin, Q, Deng, H, Xu, W
BMC endocrine disorders. 2023;(1):141
Abstract
BACKGROUND As an invasive technique, selective venous sampling (SVS) is considered a useful method to identify a lesion's location to increase the success rate of secondary surgery in patients with primary hyperparathyroidism (pHPT) caused by ectopic parathyroid adenomas. CASE PRESENTATION We present a case of post-surgical persistent hypercalcemia and elevated parathyroid hormone (PTH) levels in a 44-year-old woman with previously undetected parathyroid adenoma. An SVS was then performed for further localization of the adenoma, as other non-invasive methods showed negative results. After SVS, an ectopic adenoma was suspected in the sheath of the left carotid artery, previously considered as a schwannoma, and was pathologically confirmed after the second operation. Postoperatively, the patient's symptoms disappeared and serum levels of PTH and calcium normalized. CONCLUSIONS SVS can provide precise diagnosis and accurate positioning before re-operation in patients with pHPT.
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[Rapid promyelocytic blast crisis of chronic myeloid leukemia with PML-RARα fusion gene: a case report and literature review].
Liu, MS, Han, XY, Qu, ZG, Luo, QL, Wu, KL, Chen, J, Wu, YJ, Xu, WL, Yang, XX, Zhu, YY
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi. 2023;(6):512-515
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Pyridoxine-responsive KCNQ2 epileptic encephalopathy: Additional cases and literature review.
Chen, J, Tao, Q, Fan, L, Shen, Y, Liu, J, Luo, H, Yang, Z, Liang, M, Gan, J
Molecular genetics & genomic medicine. 2022;(10):e2024
Abstract
BACKGROUND Typical patients with KCNQ2 (OMIM# 602235) epileptic encephalopathy present early neonatal-onset intractable seizures with a burst suppression EEG pattern and severe developmental delay or regression, and those patients always fail first-line treatment with sodium channel blockers. Vitamin B6, either pyridoxine or pyridoxal 50-phosphate, has been demonstrated to improve seizure control in intractable epilepsy. METHODS Here, we collected and summarized the clinical data for four independent cases diagnosed with pyridoxine-responsive epileptic encephalopathy, and their exome sequencing data. Moreover, we reviewed all published cases and summarized the clinical features, genetic variants, and treatment of pyridoxine-responsive KCNQ2 epileptic encephalopathy. RESULTS All four cases showed refractory seizures during the neonatal period or infancy, accompanied by global development delay. Four pathogenetic variants of KCNQ2 were uncovered and confirmed by Sanger sequencing: KCNQ2 [NM_172107.4: c.2312C > T (p.Thr771Ile), c.873G > C (p.Arg291Ser), c.652 T > A (p.Trp218Arg) and c.913-915del (p. Phe305del)]. Sodium channel blockers and other anti-seizure medications failed to control their seizures. The frequency of seizures gradually decreased after treatment with high-dose pyridoxine. In case 1, case 2, and case 4, clinical seizures relapsed when pyridoxine was withdrawn, and seizures were controlled again when pyridoxine treatment was resumed. CONCLUSION Our study suggests that pyridoxine may be a promising adjunctive treatment option for patients with KCNQ2 epileptic encephalopathy.
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Superior mesenteric artery syndrome after colectomy: A case report and literature review.
Li, X, Tian, M, Yang, H, Liu, Y, Chen, J, Tian, H
Medicine. 2022;(35):e30427
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Abstract
RATIONALE Superior mesenteric artery (SMA) syndrome, also known as Wilkie syndrome, is a rare benign disease characterized by small bowel obstruction due to compression of the third portion of the duodenum by the SMA and the abdominal aorta. However, SMA syndrome after colectomy is extremely rare, establishing a clear diagnosis and formulating a treatment plan may be challenging for surgeons. PATIENT CONCERNS A 64-year-old male with multiple colon polyposis and constipation underwent laparoscopic subtotal colectomy with cecal-rectal anastomosis. On the seventh postoperative day, he started vomiting and complained of abdominal bloating. DIAGNOSIS An upper gastrointestinal series, computed tomography scan and computed tomography angiography confirmed the diagnosis of SMA syndrome. INTERVENTIONS Gastric decompression, nasojejunal tube feeding and parenteral nutrition were performed. OUTCOMES After 3 weeks of conservative treatment, the patient showed no clinical improvement in symptoms. Subsequently, he suffered from gastrointestinal hemorrhage, deep venous thrombosis of the lower extremity and cerebral hemorrhage successively. Unfortunately, the patient eventually died. LESSONS Surgeons should be aware of the fact that SMA syndrome can occur after colectomy. Every attempt should be made to correct and avoid any predisposing factors perioperatively. Prompt diagnosis of SMA syndrome after colectomy and appropriate early intervention reduce mortality.
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Nephrotic syndrome of minimal change disease following exposure to mercury-containing skin lightening cream: A case report and literature review.
Gao, H, Liu, G, He, Y, Chen, J
Clinical nephrology. 2022;(2):107-112
Abstract
Long-term exposure to mercury-containing skin lightening cream can cause mercury-related nephropathy, among which, membranous nephropathy (MN) and minimal change disease (MCD) are the main pathological types. In contrast to these two conditions, MCD with IgA deposition is not a common disease. In the present study, we report a 65-year-old Asian woman who developed nephrotic syndrome following long-term use of mercury-containing skin lightening cream. The urine mercury level of the patient was significantly increased, and the results of the renal biopsy indicated diagnosis of MCD with IgA deposition. Following three courses of treatment with sodium dimercaptopropane sulfonate (DMPS) alone and discontinuation of the skin cream, the symptoms of the patient were relieved without use of glucocorticoids, with proteinuria turning negative and a significant reduction in urine mercury levels. During the 6-month follow-up period, routine urinalysis remained normal. By reviewing relevant published literature, we summarized the pathological characteristics, possible mechanism of action, and treatment strategies of mercury poisoning-related MCD. The possibility of mercury poisoning should be considered for patients with nephropathy and history of use of skin lightening cosmetics. In these patients, the urine mercury levels should be measured in time so that mercury removal therapy can be implemented early.
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Rusty pipe syndrome: a case report and review of the literature.
Tang, H, Zhu, W, Chen, J, Zhang, D
BMC pregnancy and childbirth. 2022;(1):770
Abstract
BACKGROUND Painless bloody nipple discharge is often classified as pathological due to its association with malignant lesions. However, it can also be a completely harmless condition. Rusty pipe syndrome is a rare cause of benign, self-limiting bloody nipple discharge during late pregnancy and early lactation. Given that rusty pipe syndrome is not described in conventional textbooks, we thought it would be appropriate to bring this benign disease to the notice of readers. CASE PRESENTATION A 31-year-old G1P1 female delivered an infant with a birth weight of 3000 g via cesarean section at 39 weeks of gestation. The baby was admitted to the pediatric intensive care unit for a suspected oblique inguinal hernia. The mother had bilateral painless bloody nipple discharge when she started to express milk. A physical examination uncovered no signs of inflammation, engorgement, palpable mass, tenderness, cracks or ulcers. A breast ultrasound and cytological analysis revealed no signs of a neoplasm. Without any medical intervention, the color of the rusty milk changed from dark brown to light brown during hospitalization and finally resolved six days postpartum. CONCLUSION Rusty pipe syndrome is a self-limiting benign condition that should be considered in the differential diagnosis of bloody nipple discharge. Awareness of this rare disease by medical professionals would be extremely beneficial for avoiding unneeded examinations and discontinuity of exclusive breastfeeding.
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New phenotype of severe neonatal episodic laryngospasm due to a missense mutation in SCN4A: A case report and literature review.
Xi, Q, Yi, L, Zhou, W, Chen, J, Yang, Z
Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences. 2021;(12):1430-1436
Abstract
Severe neonatal episodic laryngospasm (SNEL) is an ion channel disease characterized by recurrent life-threatening myotonia of respiratory muscle due to mutations in the voltage-gated sodium channel genes. Here we reported a newborn manifested as paroxysmal cyanosis and limb myotonia after birth. The neonate also developed muscle hypertrophy and stunted growth during the follow-up. Whole exome sequencing confirmed c.2395G>A, p.Ala799Thr heterozygous mutation of SCN4A. Carbamazepine was found to be effective on treating the disease. This case expands our understanding of the phenotype resulting from SCN4Amutations. By summarizing the characteristics of reported 16 cases in SNEL,we found they were mainly in the p.G1306E mutation. The common symptoms were upper airway muscle stiffness and feeding difficulties during neonates.When grow up, most patients have different degrees of recurrent attacks of myotonia and progressed muscle hypertrophy. Some of them have athlete-like special faces but all showed myotonic discharge in eletromyogram.