0
selected
-
1.
Primary aldosteronism concurrent with subclinical Cushing's syndrome: a case report and review of the literature.
Zhang, Y, Tan, J, Yang, Q, Du, Z, Yang, S, He, W, Song, Y, Hu, J, Yang, Y, Li, Q, et al
Journal of medical case reports. 2020;(1):32
Abstract
BACKGROUND The prevalence of primary aldosteronism concurrent with subclinical Cushing's syndrome was higher than previously thought. Through analyzing a rare clinical case, we summarized the diagnosis and management of primary aldosteronism with subclinical Cushing's syndrome. CASE PRESENTATION A 54-year-old Chinese man of Han nationality was diagnosed as having primary aldosteronism with subclinical Cushing's syndrome. An abdominal computed tomography scan revealed a mass in his left adrenal gland and a mass in his right adrenal gland. After finishing sequential adrenal venous sampling without adrenocorticotropic hormone, the result reminded us that the left and right nodules were responsible for hypercortisolism and aldosterone hypersecretion, respectively. Right and left adrenalectomy were performed successively. The pathological diagnosis was adrenocortical adenoma for both. Histological findings revealed that the right one had positive immunostaining for CYP11B2 and the left one had positive immunostaining for CYP11B1. The immunohistochemistry result helped us to confirm the diagnosis. Somatic KCNJ5 mutation (Leu168Arg) was found in the right tumor; there was no KCNJ5 mutation in the left adrenal tumor. CONCLUSIONS We suggest that patients with primary aldosteronism should have a low-dose overnight dexamethasone suppression test to screen for hypercortisolism. It can help avoid misdiagnoses and contribute to proper understanding of the adrenal vein sampling result. Making sure of the nidus of aldosterone and cortisol secretion is crucial for the therapy of patients with primary aldosteronism and subclinical Cushing's syndrome.
-
2.
Does probiotic bacteremia in premature infants impact clinically relevant outcomes? A case report and updated review of literature.
Pillai, A, Tan, J, Paquette, V, Panczuk, J
Clinical nutrition ESPEN. 2020;:255-259
Abstract
Prophylactic use of probiotics decreases the incidence of necrotizing enterocolitis (NEC) in premature infants. However, there are ongoing concerns related to the routine use of probiotics including inconsistent literature regarding optimal dose and strain, lack of regulatory standards in production and reports regarding potential side effects. There is limited data regarding the incidence of probiotic bacteremia and its impact on relevant clinical outcomes in the premature population. We report the first case of Bifidobacterium longum bacteremia in our center since the routine introduction of probiotics. The neonate had NEC with perforation on day of life 7, which likely led to translocation of the probiotic strain to the blood stream. The neonate did not have any hemodynamic instability and the repeat blood culture was negative after starting antibiotic therapy. We also conducted a literature review and found 13 other cases of probiotic bacteremia in premature or very low birth weight neonates. Although the incidence of probiotic bacteremia is low, it can impact several clinical outcomes including prolonged exposure to antibiotics, removal of central lines and additional laboratory testing such as lumbar puncture. There has been no mortality attributable to probiotic bacteremia and there is no data regarding long term neurodevelopmental outcomes.
-
3.
A De Novo heterozygous frameshift mutation identified in BCL11B causes neurodevelopmental disorder by whole exome sequencing.
Qiao, F, Wang, C, Luo, C, Wang, Y, Shao, B, Tan, J, Hu, P, Xu, Z
Molecular genetics & genomic medicine. 2019;(9):e897
Abstract
BACKGROUND Next-generation sequencing has been invaluable to delineate the genetic etiology of neurodevelopmental disorders (NDDs) in recent years. BCL11B, encoding Cys2 His2 zinc finger transcription factor, is essential for the development of immune and neural systems. METHODS Herein, we describe a Chinese girl presenting craniofacial abnormalities, developmental delay and intellectual disability with speech impairment. Exomes of genes were enriched with the Agilent SureSelect QXT ALL Human Exon V6 kit and sequenced on Illumina Hiseq 2500 platform. RESULTS After variants filtering and annotation, we identified a de novo heterozygous 11bp frameshift mutation NM_138576.4: c.2190_2200delGGACGCACGAC (p.Thr730Thrfs*151) in exon 4 of BCL11B, which is expected to escape nonsense-mediated mRNA decay and probably result in a truncated protein with lack of the C-terminal DNA-binding zinc-finger domains. CONCLUSION This is the first report of NDD caused by a BCL11B variant in a Chinese population. The mutation identified in this report broadens the knowledge of mutation spectrum of BCL11B and might help in genetic counseling and reducing reproductive risk.
-
4.
Antiresorptive-associated spontaneous fractures of both tibiae, followed by an atypical femur fracture during the sequential treatment with alendronate, denosumab then teriparatide.
Tan, J, Sano, H, Poole, K
BMJ case reports. 2019;(7)
-
-
Free full text
-
Abstract
A 35-year-old man with juvenile idiopathic arthritis since childhood presented with bilateral atypical tibial fractures, followed by a later, single atypical fracture of the femur. The fractures were associated with 6 years of oral alendronate treatment immediately followed by subcutaneous denosumab therapy and later teriparatide therapy for osteoporosis. Atypical fractures are known to occur in the femur following bisphosphonate therapy; however, there are only a few documented cases of atypical fractures in the tibia. Our case highlights a rare but serious complication of a commonly prescribed antiresorptive agent. It also shows that teriparatide, while helpful in increasing bone mass, does not fully prevent the development of atypical fractures. Careful investigation should be considered in patients on long-term antiresorptive therapy presenting with bony tenderness to exclude an atypical fracture.
-
5.
A suppurative thyroiditis and perineal subcutaneous abscess related with aspergillus fumigatus: a case report and literature review.
Tan, J, Shen, J, Fang, Y, Zhu, L, Liu, Y, Gong, Y, Zhu, H, Hu, Z, Wu, G
BMC infectious diseases. 2018;(1):702
Abstract
BACKGROUND Invasive aspergillosis is a complication in immunocompromised patients and commonly detected in patients with hematological malignancies, which mostly affect the lungs. Because of its high iodine content, rich blood supply and capsule, the thyroid is considered to be less prone to microbial invasion thus most infectious thyroiditis cases are caused by bacteria. However, a few case reports have described thyroid gland aspergilloses, most of which were due to disseminated invasive aspergillosis. CASE PRESENTATION We first report a case of thyroid gland and subcutaneous labium majus aspergillosis in a Chinese patient who received long-term glucocorticoid treatment for systemic lupus erythematosus (SLE) and lupus nephritis, and then we reviewed 36 articles describing similar aspergillus infections in 41 patients. CONCLUSION We included 29 cases of diagnosed aspergillus thyroiditis and analyzed clinical findings, treatments and outcomes to provide clinical information for diagnosis and prognosis of thyroiditis caused by Aspergillus fumigatus.
-
6.
[Acute promyelocytic leukemia with stat5b- RARα fusiongene: a case report and literatures review].
Liu, L, Chen, S, Tan, J, Shi, P, Chen, K, Gao, D, Huang, X, Xie, Y, Xu, Y, Yang, F, et al
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi. 2016;(1):68-9