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1.
Transformation from acute promyelocytic leukemia in pregnancy to acute myeloid leukemia with MLL-AF9 fusion gene: A case report and literature review.
Gao, Y, Han, N, Jiang, Y, Lu, Z
Medicine. 2023;(48):e36403
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Abstract
RATIONALE Because there are few evidence-based guidelines and an extremely low incidence rate, managing and treating patients who have transitioned from acute promyelocytic leukemia (APL), which was diagnosed during pregnancy, to acute myeloid leukemia (AML), can be difficult. PATIENT CONCERNS In this case, a 34-year-old pregnant patient was diagnosed with APL in medium-risk group in June 2017. After the all-trans retinoic acid and arsenic trioxide-based full-course treatment, the patients achieved complete remission (CR) and were well-tolerated. After 5 years, the patient complained of fatigue for 3 months. DIAGNOSIS Bone marrow examination revealed hypercellularity with approximately 50% immunophenotypic abnormal myeloblasts with MLL-AF9 fusion gene. Based on the AML diagnosis criteria of the World Health Organization, the patient was eventually diagnosed with a rare transformation from APL to AML. INTERVENTIONS The patient was treated with two cycles of induction chemotherapy and an allogeneic hematopoietic stem cell transplantation (allo-HSCT). OUTCOMES Until now, the patient is in continuous remission with no signs of APL and AML. LESSIONS Despite the rarity of APL to AML transformation, it is crucial to track the disease's progress and administer treatment on time. It remains uncertain whether the risk stratification and clinical outcomes of secondary AML with MLL-AF9 are equivalent to those of de novo AML with MLL-AF9. The management and treatment of these patients should be personalized and require further observation.
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Appendiceal Neuroendocrine Tumor Is a Rare Cause of Ectopic Adrenocorticotropic Hormone Syndrome With Cyclic Hypercortisolism: A Case Report and Literature Review.
Zhao, YX, Ma, WL, Jiang, Y, Zhang, GN, Wang, LJ, Gong, FY, Zhu, HJ, Lu, L
Frontiers in endocrinology. 2022;:808199
Abstract
OBJECTIVE Ectopic adrenocorticotropic hormone (ACTH) syndrome (EAS) is a condition of hypercortisolism caused by non-pituitary tumors secreting ACTH. Appendiceal neuroendocrine tumor as a rare cause of ectopic ACTH syndrome was reported scarcely. We aimed to report a patient diagnosed with EAS caused by an appendiceal neuroendocrine tumor and summarized characteristics of these similar cases reported before. CASE REPORT AND LITERATURE REVIEW We reported a case with Cushing's syndrome who was misdiagnosed as pituitary ACTH adenoma at first and accepted sella exploration. Serum and urinary cortisol decreased, and symptoms were relieved in the following 4 months after surgery but recurred 6 months after surgery. The abnormal rhythm of plasma cortisol and ACTH presented periodic secretion and seemingly rose significantly after food intake. EAS was diagnosed according to inferior petrosal sinus sampling (IPSS). Appendiceal mass was identified by 68Ga-DOTA-Tyr3-octreotate (DOTATATE)-PET-CT and removed. The pathological result was consistent with appendiceal neuroendocrine tumor with ACTH (+). The literature review demonstrated 7 cases diagnosed with EAS caused by appendiceal neuroendocrine tumor with similarities and differences. CONCLUSION The diagnosis of an ectopic ACTH-producing tumor caused by the appendiceal neuroendocrine tumor can be a challenging procedure. Periodic ACTH and cortisol secretion may lead to missed diagnosis and misdiagnosis. IPSS is crucial in the diagnosis of EAS and 68Ga-DOTATATE-PET-CT plays an important role in the identification of lesions.
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Enhancement in serum (1-3)-β-D-glucan level by cutaneous alternariosis: A case report and literature review.
Chen, Z, Jiang, Y, Wang, D, Zheng, M, Liu, X, Yuan, C
Microbial pathogenesis. 2021;:104703
Abstract
Contamination with the fungus Alternaria spp. is often considered to have originated from laboratory sources, which occasionally causes infection in immunocompromised patients, termed as phaeohyphomycosis. Here, we have reported a case of cutaneous alternariosis caused by Alternaria alternata. This diagnosis was based on microscopic examination and mycological culturing of patient's vesicular lesions, with the use of 5 molecular markers (namely, ITS, ATPase, Actin, rpb2, and tef1) for strain identification. We noted that Alternaria infection caused an increase in the serum level of (1-3)-β-D-glucan (BG) in the patients. To the best of our knowledge, no such finding has been reported in previously in the literature.
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4.
Hepatocellular carcinoma with indocyanine green excretory defect: a case report and review of the literature.
Liu, W, Chen, LJ, Jiang, Y, Xu, LJ, Qiu, X
The Journal of international medical research. 2021;(4):3000605211004025
Abstract
Constitutional indocyanine green (ICG) excretory defect is rare. However, ICG excretory defect concomitant with hepatocellular carcinoma (HCC) is extremely rare, and only six reports of hepatectomy in patients with constitutional ICG excretory defect have been published in the English language literature through 2020. In this study, we report a case of combined HCC and ICG excretory defect and discuss its clinicopathological features and outcomes. The case featured a 68-year-old man who was admitted to the hospital with a diagnosis of resectable HCC. The preoperative ICG retention rate at 15 minutes was 82.9%. Despite this finding, the Child-Pugh assessment and hepatobiliary-specific magnetic resonance imaging (MRI) did not reveal any abnormal findings. Therefore, we diagnosed the patient with constitutional ICG excretory defect and performed partial hepatectomy. For patients requiring hepatectomy, the indications and procedure for surgery should be considered. These should be based on liver function tests such as gadolinium ethoxybenzyl diethylenetriamine pentaacetic acid-enhanced MRI.
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5.
[Pulmonary actinomycosis in children: a case report and literature review].
Huang, MX, Ye, B, Jiang, Y, Tang, LF, Chen, ZM
Zhonghua er ke za zhi = Chinese journal of pediatrics. 2021;(1):33-36
Abstract
Objective: To summarize the clinical characteristics, imaging features, diagnosis, treatment and prognosis of pulmonary actinomycosis in children. Methods: The clinical data of a child with pulmonary actinomycosis who was hospitalized in Children's Hospital, Zhejiang University School of Medicine in December 2019 was retrospectively analyzed. The related literature published from January 1975 to January 2020 was retrieved from Wanfang, CNKI and PubMed databases with "pulmonary" or "thoracic" and "actinomycosis" and "pediatric" or "children" or "child" as the keywords. And the characteristics of pediatric pulmonary actinomycosis were summarized based on the literature review. Results: The patient was a boy aged 12 years and 6 months. He was admitted due to cough and chest pain for more than 20 days, with fever on the first three days. The chest CT scan in local hospital found inflammatory lesions in the right middle lobe, which was also suspected to be cavitation. The flexible bronchoscopy showed congestion and edema of bronchial mucosa in the right middle lobe, and bronchoalveolar lavage fluid smear was positive for acid-fast bacilli DNA, although both purfied protein derivatives tuberculin test and T-spot were negative. During the hospitalization, the child had persistent cough and chest pain, but no fever. Pathogen metagene sequencing of the bronchoalveolar lavage fluid detected Actinomyces (sequence number: 222) and Grevini Actinomycetes (sequence number: 185). The boy received intravenous cefoperazone sulbactam sodium for 2 weeks followed by oral amoxicillin clavulanate potassium for 6 weeks. Until April 2020, his clinical symptoms completely relieved, and the pulmonary lesions were significantly absorbed on the latest chest CT scan. Eight articles and 62 children with pulmonary actinomycosis were reported, but no related reports were retrieved from CNKI and Wanfang databases. The youngest case was 27 months old. The clinical presentations of this disease were nonspecific. The main symptoms included chest wall masses (8 cases), cough (23 cases), pain (chest, back, shoulders and armpits) (24 cases), fever (25 cases), weight loss (26 cases), etc. Conclusions: The clinical manifestations and imaging features of pediatric pulmonary actinomycosis are nonspecific, therefore it could easily be misdiagnosed. For children with pneumonia of unknown etiology and failing to respond to routine antibiotics, the pathogen metagene sequencing of the bronchoalveolar lavage fluid will be helpful for diagnosis. With appropriate course of antibiotic treatment, the prognosis is good in most cases.
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6.
Frontal lobe epilepsy manifesting as vertigo: a case report and literature review.
Jiang, Y, Zhou, X
The Journal of international medical research. 2020;(9):300060520946166
Abstract
Frontal lobe epilepsy is a common neurological disorder with a broad spectrum of symptoms. Frontal lobe epilepsy presenting with vertigo is extremely rare, and the relevant pathogenesis remains unclear. Herein, we report a case of frontal lobe epilepsy manifesting as vertigo, and we review the relevant literature. A 34-year-old woman presented with a 10-year history of general tonic-clonic seizures. In the month prior to admission, she experienced nocturnal seizures on two occasions. Video electroencephalogram monitoring showed frequent clinical seizures during which the patient felt transient vertigo. The ictal electroencephalogram revealed a medium-amplitude spike and slow wave complex originating from the frontal lobes. The patient was treated with oral sodium valproate, levetiracetam, and lamotrigine. After a 6-month follow-up period, her seizures were well controlled. Our findings expand the symptom spectrum of epilepsy, suggesting that vertigo can be an uncommon clinical manifestation of frontal lobe epilepsy. Although the pathological correlation between vertigo and epilepsy remains elusive, our findings indicate that vestibular cortical neurons may participate in periodic epileptiform discharges of the frontal lobe. Clinicians should be aware of a potential diagnosis of epilepsy in patients presenting with vertigo as the onset symptom because this condition is usually underdiagnosed.
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7.
Prevalence of Parathyroid Carcinoma and Atypical Parathyroid Neoplasms in 153 Patients With Multiple Endocrine Neoplasia Type 1: Case Series and Literature Review.
Song, A, Yang, Y, Liu, S, Nie, M, Jiang, Y, Li, M, Xia, W, Wang, O, Xing, X
Frontiers in endocrinology. 2020;:557050
Abstract
Purpose: The occurrence of parathyroid carcinoma (PC) and atypical parathyroid neoplasm (APN) in multiple endocrine neoplasia type 1 (MEN1) is rare. The present paper reports the cases of 3 MEN1-PC/APN patients at our center and discusses the prevalence in a Chinese MEN1 cohort. Methods: This report is a retrospective analysis of 153 MEN1-associated primary hyperparathyroidism (MEN1-HPT) patients at our center, which included 3 MEN1-associated PC/APN (MEN1-PC/APN) patients. The clinical manifestations, biochemical indices, pathological findings, and therapy have been summarized along with the report of the genetic testing of the 3 patients. Results: Of the 153 MEN1-HPT patients, 1 (0.7%) was histopathologically diagnosed with PC and 2 (1.3%) with APN. Three heterozygous mutations were identified in the 3 MEN1-PC/APN patients (c.917 T > G, c.431T > C, and c.549 G > C). The cumulative findings of 3 cases with 18 previously reported MEN1-PC/APN cases revealed that the mean serum calcium (Ca) level was 3.15 ± 0.44 mmol/L and the median parathyroid hormone (PTH) level was 327 pg/mL (214.1, 673.1), both of which were significantly higher as compared to the respective levels in non-PC/APN MEN1 patients at our center [Ca: 2.78 mmol/L [2.61, 2.88], PTH: 185.5 pg/mL [108.3, 297.0]; P = 0.0003, 0.0034, respectively]. Conclusion: MEN 1-PC/APN is a rare disease, with a prevalence of only 2.0% among the MEN1-HPT cohort at our center. The affected patients recorded higher serum Ca level and PTH levels than those with MEN1-associated benign tumors. However, the diagnosis of MEN1-PC/APN is based upon pathology most of the times.
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8.
Retinal complications of gout: a case report and review of the literature.
Jiang, Y, Brenner, JE, Foster, WJ
BMC ophthalmology. 2018;(1):11
Abstract
BACKGROUND There have been few reported findings of posterior segment complications of gout. While exudative lesions, an increased risk of macular degeneration, and vascular occlusions have been previously reported, to our knowledge, refractile macular lesions have not been reported in a patient with chronic uncontrolled gout. CASE PRESENTATION Highly refractile, crystal-like lesions were found in the macula of a 62 year old male patient with chronically uncontrolled gout. The lesions appeared at the termination of retinal arterioles and were located at the level of the retinal pigment epithelium. The lesions did not stain with fluorescein and were associated with larger areas geographic atrophy. Review of the patient's blood tests revealed well-controlled vasculopathic risk factors. Fundus appearance and best-corrected visual acuity remained stable over 12 months of follow-up during which the uric acid levels were well controlled. CONCLUSION Retinopathy may be associated with chronically uncontrolled gout and patients with visual complaints should undergo a dilated examination in addition to the typical anterior segment slit-lamp exam.
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Clinical diagnosis, treatment, and ALDH7A1 mutations in pyridoxine-dependent epilepsy in three Chinese infants.
Yang, Z, Yang, X, Wu, Y, Wang, J, Zhang, Y, Xiong, H, Jiang, Y, Qin, J
PloS one. 2014;(3):e92803
Abstract
Pyridoxine-dependent epilepsy (PDE) is a rare autosomal recessive disorder that causes seizures in neonates and infants. Mutations of the ALDH7A1 gene are now recognized as the molecular basis PDE and help to define this disease. Three Chinese children with PDE were clinically analyzed, followed by treatment and examination of the ALDH7A1 mutations. The seizures of the 3 patients were all resistant to multiple anticonvulsants (2 to 7 types). For case 1, onset of seizures was at the age of 2 months. His seizures were well controlled by intravenous pyridoxine for several days at the age of 3 months 20 days and recurred at intervals of 13, 14 and 38 days after pyridoxine withdrawn for 3 times. At the age of 7 months, symptoms of PDE appeared and uninterrupted oral pyridoxine started. For case 2, her seizures occurred at 8 days after birth. After administration of multiple antiepileptic drugs observed ineffective, high-dose pyridoxine continuous therapy was taken at the age of 10 months and the significant treatment effect induced a diagnostic PDE. Seizure onset in case 3 was at the first day of birth. He experienced inadvertently pyridoxine therapy several times (first time at 2 days after birth) and achieved good therapeutic effect, which was confirmed by physicians until 4 months 10 days. The treatment process in our 3 patients suggested that pyridoxine should be early and purposefully used in patients with early onset seizures. ALDH7A1 gene mutation analysis revealed compound heterozygous mutations in each case: heterozygous c.410G>A (p.G137E) and IVS11+1G>A in case 1, heterozygous c.952G>C (p.A318P) and heterozygous c.965C>T (p.A322V) in case 2, and heterozygous c.902A>T (p.N301I) and IVS11+1G>A in case 3. Only p.N301I was reported previously, all other mutations were novel. This is the first time to report cases of Chinese patients diagnosed with PDE by molecular genetic analysis.
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10.
Primary colonic melanoma presenting as ileocecal intussusception: case report and literature review.
Li, WX, Wei, Y, Jiang, Y, Liu, YL, Ren, L, Zhong, YS, Ye, LC, Zhu, DX, Niu, WX, Qin, XY, et al
World journal of gastroenterology. 2014;(28):9626-30
Abstract
Primary malignant melanoma originating in the colon is an extremely rare disease. Herein, we report a case of primary melanoma of the ascending colon. The patient was a 57-year-old male who was admitted to our hospital for persistent abdominal pain and episodes of bloody stool, nausea and vomiting. A computed tomography scan revealed lower intestinal intussusception and enlarged lymph nodes in the abdominal cavity and retroperitoneum. During laparoscopic operation, multiple enlarged lymph nodes were found. Several segments of the proximal small intestine were incarcerated into the distal small intestine, forming an internal hernia and obstruction. The necrotic terminal ileum was invaginated into the ascending cecum. Subsequently, adhesive internal hernia reduction and palliative right hemicolectomy were performed. Pathologic examination of the excised specimen revealed a polypoid mass in the ascending colon. Histological examination showed epithelioid and spindle tumor cells with obvious cytoplasmic melanin deposition. Immunohistochemical staining revealed that the tumor cells were positive for S-100, HMB-45 and vimentin, confirming the diagnosis of melanoma. The patient history and a thorough postoperative investigation excluded the preexistence or coexistence of a primary lesion elsewhere in the skin, anus or oculus or at other sites. Thus, we consider our case to represent an aggressive primary colon melanoma presenting as ileocecal intussusception and intestinal obstruction.