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Myasthenia-like paraneoplastic syndrome with multiple cranial nerve tumor infiltration: A case report and literature review.
Wen, C, Yang, J, Xu, C, Wei, D, Luo, L
Medicine. 2023;(20):e33774
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Abstract
RATIONALE Approximately 0.001% of patients with cancer have paraneoplastic nerve system syndrome, which can affect the central nervous system, neuromuscular junction, or peripheral nervous system. Although myasthenia gravis (MG) may exist as a thymic paraneoplastic syndrome (PNPS), its association with primary lung cancer remains unknown. PATIENT CONCERNS A 55-year-old female presented with slurred speech, weakness in chewing, sporadic difficulty in swallowing, and weakness in both lower limbs for half a year. DIAGNOSES Based on cerebrospinal fluid and electromyography findings, we present the case of a female patient diagnosed with overlapping multicranial nerve tumor infiltration and MG-like neurological PNPS secondary to lung adenocarcinoma. INTERVENTIONS The patient received intrathecal injections of pemetrexed and neurotrophic (vitamin B) therapy before ceasing chemoradiotherapy and chose cabozantinib on her own. OUTCOMES Weakness of the proximal limbs, choking cough, and chewing problems did not improve significantly. LESSONS Although it is unclear why MG coexists with lung cancer, it is probable that MG is a paraneoplastic condition. Cerebrospinal fluid testing should be carried out along with electrophysiological, serological, and pharmacological procedures pertinent to the diagnosis of MG to thoroughly examine if people simultaneously experience MG-like PNPS and tumor growth. Starting immunotherapy and anticancer medication at the same time that tumor development and MG-like syndrome are discovered is crucial.
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A case of early-onset periodontitis with vitamin D deficiency: A case report and literature review.
Li, C, Zhang, J, Wang, L, Yang, J
Medicine. 2023;(39):e35321
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RATIONALE Periodontitis is an inflammatory disease with multifactorial etiology. Vitamin D, a fat-soluble vitamin, has protective effects on inflammatory response in various systemic conditions. The clinical features of vitamin D deficiency include growth failure, hypotonia, pathologic fractures, rachitic rosary, tetany and so on. Here we present a case of 12-year-old girl affected by early-onset periodontitis accompanied with vitamin D deficiency. PATIENT CONCERNS A 12-year-old girl with gingival redness, bleeding associated with tooth brushing, and mandibular anterior teeth movement, with difficulty in mastication for the past 2 months. There is no relevant family history or special systemic disease history. The serological microelement test showed vitamin D levels were significantly lower than normal range. Immunological test showed abnormal CD4+/CD8+(CD3+CD4+/CD3+CD8+) ratio as well. DIAGNOSES Based on the clinical and serological findings, this patient was ultimately diagnosed with early-onset periodontitis accompanied with vitamin D deficiency. INTERVENTIONS The main treatments for this patient were 3-fold: periodontal therapy, vitamin D supplement and oral hygiene instructions. OUTCOMES Following 1-year therapy, periodontal conditions recovered and became stable. And serological vitamin D levels returned to normal range. LESSONS The case of interest serves as an important reminder to clinicians, that the early-onset periodontitis may be associated with micronutrients abnormalities, and early-diagnosis and treatment could avoid the body heathy disorders.
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[Ultra-remote robot-assisted laparoscopic surgery for varicocele through 5G network: Report of two cases and review of the literature].
Zhou, X, Wang, JY, Zhu, X, Sun, HJ, Aikebaer, A, Tian, JY, Shao, YQ, Maimaitijiang, D, Muhetaer, W, Li, J, et al
Zhonghua nan ke xue = National journal of andrology. 2022;(8):696-701
Abstract
OBJECTIVE At present, the longest network transmission distance (NTD) for 5G remote endoscopic surgery is reportedly only about 229 km, and the NTD longer than 5 000 km has not yet been reported in clinical application. In this study, we attempted the clinical application of 5G ultra-remote robot-assisted laparoscopic surgery in spermatic vein ligation. METHODS This retrospective study included two cases of 5G ultra-remote robot-assisted laparoscopic spermatic vein ligation using the home-made Tumai Surgical Robot System. The operation table was located in Xinjiang Kezhou People's Hospital, with an NTD of about 5 800 km (a linear distance of about 3 800 km) from the surgeon's console in the Telemedical Center of the First Affiliated Hospital of Nanjing Medical University, the apparatuses connected through the public 5G network. We observed the network connection delay, network fluctuation, and data packet loss rate of the devices at both ends of the loop through the feedback value of the Ping command by real-time monitoring. RESULTS The total operation time of the two cases was 45 and 40 minutes respectively, with a mean blood loss of < 5 ml. The patients resumed a liquid diet and out-of-bed activity on the first day, the abdominal drainage tubes removed on the second, and both discharged from the hospital on the third day. The intraoperative average two-way network delay was 130 ms, and the average continuous data packet loss rate was 1.4%. No adverse network events, such as network interruption, occurred during the operation. CONCLUSION Through the public 5G network and home-made Tumai Surgical Robot System, ultra-remote robot-assisted laparoscopic surgery was performed safely and successfully.
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[Fatherhood achieved in a case of nonobstructive azoospermia with Kennedy's disease via microdissection testicular sperm extraction and ICSI: A case report and literature review].
Liu, Y, Yang, J, Liu, JH, Jin, L
Zhonghua nan ke xue = National journal of andrology. 2020;(7):625-630
Abstract
OBJECTIVE To explore the feasibility of biological fatherhood in nonobstructive azoospermia patient with Kennedy's disease and review the relevant literature. METHODS A twenty-eight man complaining of weakness in the lower extremities for a year underwent physical and laboratory examinations and was found with azoospermia. At the request of the patient for assisted reproduction, we performed microdissection testicular sperm extraction (micro-TESE). RESULTS Physical examination showed grade-4 and grade-4+ muscular strength in the proximal and distal lower extremities, respectively. The levels of Creatine kinase (CK), serum follicle-stimulating hormone (FSH), luteinizing hormone (LH) and testosterone (T) of the patient were 432 U/L,18.1IU/L,10.4 IU/L and 8.6 nmo/L, respectively. The peroneal motor nerve conduction velocity was significantly decreased. Examination of the androgen receptor (AR) gene revealed 56 CAG repeats in exon 1, which confirmed Kennedy's disease. The patient was found with testicular atrophy and mild gynecomastia but normal seminal plasma biochemical parameters and peripheral karyotype and no Y chromosome microdeletion. Some sperm were found in micro-TESE though none in the previous testicular biopsy. Immunoradiometric assay showed a serum β-HCG level of 873 IU/L at 2 weeks and ultrasonography manifested clinical pregnancy at 4 weeks after in vitro fertilization-embryo transfer following intracytoplasmic sperm injection (ICSI). At 38 weeks and 2 days of gestation, a healthy boy was born by caesarean in a local hospital. CONCLUSIONS Nonobstructive azoospermia patients with Kennedy's disease can achieve biological fatherhood via micro-TESE and ICSI.
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Pulmonary tuberculosis presenting as henoch-schönlein purpura: Case report and literature review.
Li, J, Wang, XZ, Wang, RC, Yang, J, Hao, HL, Xue, LY
Medicine. 2020;(40):e22583
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INTRODUCTION Henoch-Schönlein purpura (HSP) is an extremely rare condition in patients with pulmonary tuberculosis, with only a few reported cases. Compared to patients with typical clinical symptoms, it is difficult to make a definitive diagnosis when HSP presents as an initial manifestation in pulmonary tuberculosis patients. Herein, a case of pulmonary tuberculosis that showed HSP at first was reported, and the related literatures were reviewed. PATIENT CONCERNS A 24-year-old man presented with palpable purpura on the extremities, accompanied by abdominal pain, bloody stools, and knee pain. DIAGNOSES The patient was diagnosed with pulmonary tuberculosis based on the results of interferon gamma release assays, purified protein derivative test, and computed tomography. INTERVENTIONS The patient was treated with vitamin C and chlorpheniramine for 2 weeks, and the above-mentioned symptoms were relieved. However, 3 weeks later, the purpura recurred with high-grade fever and chest pain during the inspiratory phase. The patient was then treated with anti-tuberculosis drugs, and the purpura as well as the high fever disappeared. OUTCOMES The patient recovered well and remained free of symptoms during the follow-up examination. CONCLUSION Pulmonary tuberculosis presenting with HSP as an initial manifestation is not common. Therefore, it is difficult to clinically diagnose and treat this disease. When an adult patient shows HSP, it is important to consider the possibility of tuberculosis to avoid misdiagnosis and delayed treatment.
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UMOD gene mutations in Chinese patients with autosomal dominant tubulointerstitial kidney disease: a pediatric case report and literature review.
Yang, J, Zhang, Y, Zhou, J
BMC pediatrics. 2019;(1):145
Abstract
BACKGROUND Autosomal dominant tubulointerstitial kidney disease (ADTKD) caused by UMOD gene mutation (ADTKD-UMOD) is rare in children, characterized by hyperuricemia, gout, and progressive chronic kidney disease. It usually leads to end-stage renal failure at fiftieth decades. Here, we report a 3-year-old Chinese boy in an ADTKD family caused by a novel UMOD gene mutation. CASE PRESENTATION A 3-year-old boy was admitted to our hospital because of persistent hematuria. Urinalysis showed BLD 2+ without proteinuria. The serum levels of uric acid, creatinine and electrolytes were normal. No renal cyst or calculus was found by ultrasonography. Renal biopsy was performed and focal and segmental glomerulosclerosis was found in 4 glomeruli among 35 glomeruli examined. His father was found with end-stage renal disease (ESRD) at the age of 29, and renal ultrasound showed several cysts in both kidneys. A novel heterozygous mutation (c.1648G > A,p.V550I) in exon 8 of UMOD gene was identified by whole exome sequencing in the family. SCBC Genome Browser alignment showed that V550 were highly conserved in uromodulin among different species. Software predicted that the mutation is suspected to be harmful. By literature review, there are 12 mutations of UMOD gene in 14 Chinese families including only one pediatric case(a 16-year-old girl). CONCLUSIONS A novel heterozygous mutation (c.1648G > A,p.V550I) in exon 8 of UMOD gene was found in in a Chinese child case with ADTKD-UMOD, which extends our understanding of UMOD gene mutation spectrum and phenotype of ADTKD-UMOD in children.
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Management of brown tumor of spine with primary hyperparathyroidism: A case report and literature review.
Hu, J, He, S, Yang, J, Ye, C, Yang, X, Xiao, J
Medicine. 2019;(14):e15007
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RATIONALE Brown tumor (BT) is a rare benign lesion in skeletal system. It is especially rare secondary to primary hyperparathyroidism (HPT). The differential diagnosis can be misleading due to its diversified clinical characteristics. Final diagnosis mainly relies on excessive elevated parathyroid hormone and biopsy. Treatments include surgical interventions and drugs. Only 19 articles (total 22 cases) reported BT of spine caused by primary HPT. PATIENT CONCERNS A 50-year-old woman was admitted to our hospital complaining left elbow and thoracodorsal pain with the lower limbs weakness. DIAGNOSES Multifocal BT. INTERVENTIONS The patient received intramuscular injection of Miacalcic and incense of Calcitonin (Salmon) Nasal Spray to decrease serum calcium level. Surgery was performed later to excise the ectopia parathyroidoma. OUTCOMES At 1-year follow-up, the patient was able to lead an independent life in her full capacity, even though she occasionally complained mild weakness of lower limbs. LESSONS BT of spine with HPT is rarely seen in the clinical practice. Treating the primary parathyroid diseases can be effective. For patients with vertebral fractures and neural deficits, immediately surgical intervention will be necessary to prevent the worse of neurological function.
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[X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection, and neoplasia: report of a family and literature review].
He, TY, Xia, Y, Li, CG, Li, CR, Qi, ZX, Yang, J
Zhonghua er ke za zhi = Chinese journal of pediatrics. 2018;(1):48-52
Abstract
Objective: To investigate the clinical features and genetic characteristics of cases with X-linked immunodeficiency with magnesium defect, Epstein-Barr virus (EBV) infection, and neoplasia (XMEN). Methods: Characteristics of clinical material, immunological data and gene mutation of two cases with XMEN in the same family in China were retrospectively analyzed. The related reports literature were searched by using search terms'MAGT1 gene'or'XMEN'. Results: The proband, a 2-year-eight-month old boy, was admitted due to 'Urine with deepened color for two days and yellow stained skin for one day'. He had suffered from recurrent upper respiratory tract infection and sinusitis previously. Hemoglobin level was 38 g/L. The absolute count of reticulocytes was 223.2×10(9)/L. Urobilinogen level was 38 μmol/L (3-16 μmol/L). Coomb's test was positive. Both total (77.2 μmol/L) and indirect bilirubin (66 μmol/L) levels were elevated. There was an inverted CD4(+)/CD8(+)T cell ratio (0.89). The gene sequencing results showed MAGT1 gene c.472delG, p.D158Mfs*6 mutation. His 1-year-6-month old brother, was also identified to have MAGT1 gene c.472delG, p.D158Mfs*6 mutation.The younger brother mainly suffered from recurrent upper respiratory tract infection, accompanied by an inverted CD4(+)/CD8(+)T cell ratio (0.45), an elevated ratio and number of total B cells (45.7%). A total of 7 reports were retrieved including 11 male cases caused by MAGT1 gene mutation. These 11 cases were characterized by EBV viremia (11 cases), recurrent upper respiratory tract infection, otitis media or sinusitis (10 cases), secondary neoplasia diseases (8 cases), reduction of CD4(+)/CD8(+) T cell ratio (7 cases),and autoimmune thrombocytopenia or hemolytic anemia (2 cases). Conclusion: XMEN often manifests as male onset, recurrent upper respiratory tract infection, otitis media or sinusitis, EBV viremia, lymphoproliferative disease or lymphoma, autoimmune diseases and reduction of CD4(+)/CD8 (+)T cell ratio. NKG2D expression in NK cells is significantly reduced, and gene sequencing analysis shows a pathogenic mutation in MAGT1 gene.
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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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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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PHEX gene mutation in a Chinese family with six cases of X-linked hypophosphatemic rickets.
Yang, L, Yang, J, Huang, X
Journal of pediatric endocrinology & metabolism : JPEM. 2013;(11-12):1179-83
Abstract
OBJECTIVE X-linked hypophosphatemic (XLH) rickets is caused by inactivating mutations in the PHEX gene, which encodes a metalloprotease that cleaves small peptide hormone. So far there are only a few reports on XLH patients from China. In the present study, we report on six XLH patients from one family. A PHEX missense mutation was found in exon 22, and a literature review on the mutations of Chinese patients was undertaken. CASE DESCRIPTION The family included six XLH patients with five females and one male (the proband). All the patients showed a low serum phosphorus, increased blood alkaline phosphatase and normal calcium levels. Mutation analysis revealed a PHEX mutation in exon 22 (c.2237G>A). In total, 15 PHEX mutations have been reported in Chinese populations at this time. CONCLUSION These data extend the spectrum of mutations in the PHEX gene in Chinese populations.