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2021 ◽  
Vol 6 (4) ◽  
pp. 302-304
Author(s):  
Kafil Akhtar ◽  
Fauzia Talat ◽  
Sumbul Warsi ◽  
Shafaque Zabin

Filariasis is a major health problem in many tropical countries including India. Most commonly affected organs are lymphatics of lower limbs, retroperitoneal tissue, spermatic cord, epididymis and breast. Despite high incidence, it is infrequent to find microfilariae in fine needle aspiration cytology smears and body fluids. Microfilaremia is usually detected in blood or skin specimens. Cytological examination with FNAC is an investigation of choice especially in patients with evident swelling with difficult clinical diagnosis. We present a case of spermatic cord microfilariasis in a 32 years male presented with right scrotal swelling with dancing filarial sign on ultrasonograpghy, while the peripheral blood smear was negative for the organism.


2021 ◽  
Vol 11 ◽  
Author(s):  
Qian Shen ◽  
Jingjing Qu ◽  
Zhen Chen ◽  
Jianying Zhou

BackgroundAdvanced non-small cell lung cancer (NSCLC) harboring epidermal growth factor receptor (EGFR) mutations has been successfully treated with tyrosine kinase inhibitors (TKIs). However, resistance to osimertinib, a third-generation TKI, can be difficult to overcome in this small subset of patients and is attributed to secondary resistant mutations. Here, we report a case of acquired EGFR L858R/L718Q mutation with advanced NSCLC that resistant to osimertinib, which was successfully overcome using dacomitinib.Case PresentationA 64-year-old non-smoker woman was diagnosed with stage IV non-small cell lung adenocarcinoma with EGFR L858R mutation and brain metastasis in November 2018. Treatment with gefitinib and gamma knife radiosurgery was started as the first-line treatment. After 7 months, she experienced disease progression with increased primary lung lesions and switched to osimertinib based on an acquired EGFR T790M mutation. After another 4 months, the disease progressed, and she was switched to chemotherapy. During chemotherapy, brain MRI showed an increasing number of parietal lobe metastases. Hence, gamma knife radiosurgery was performed again. After 12 months, the disease progression resumed, and an EGFR L718Q mutation was found on biopsy. The patient was then challenged with dacomitinib, and the disease was partially responsive and under control for 6 months.ConclusionCurrently, there are no established guidelines for overcoming osimertinib resistance caused by the L718Q mutation. The acquired EGFR L718Q mutation in subsequent resistance to osimertinib could be overcome using dacomitinib, indicating a promising treatment option in the clinic.


Author(s):  
Shakti Yeoh ◽  
Soon-Leong Yong ◽  
Pak-Inn Teoh ◽  
Marcus Kang

Abstract Objectives Choriocarcinoma after a term pregnancy is rare and can be life-threatening, especially when it perforates the uterus, resulting in massive haemoperitoneum. As uterine rupture due to choriocarcinoma is uncommonly encountered in the clinical practice, its diagnosis is often missed or delayed. Case presentation We present a case of a 41-year-old para 4 + 1 who had acute abdomen and hypovolaemic shock secondary to haemoperitoneum at three months postpartum period. The urine pregnancy test was positive, and, therefore, a provisional diagnosis of a ruptured ectopic pregnancy was made. She was managed aggressively with fluids and blood product transfusion at the emergency department to achieve haemodynamic stability. Subsequently, she underwent an emergency laparotomy where intraoperatively noted a perforation at the left posterior uterine cornu with purplish tissue spillage. A wedge resection was performed, and the histopathological examination (HPE) was reported as atypical trophoblastic cells, in which choriocarcinoma could not be ruled out. The patient then underwent a total abdominal hysterectomy three weeks later. The final HPE confirmed the diagnosis of choriocarcinoma. Conclusions The clinical presentation of postpartum choriocarcinoma can be indistinguishable from a ruptured ectopic pregnancy. A high index of suspicion is crucial to allow early diagnosis.


2021 ◽  
Vol 9 ◽  
Author(s):  
Jianli Zhou ◽  
Yuzhen Zhao ◽  
Xia Qian ◽  
Yongwei Cheng ◽  
Huabo Cai ◽  
...  

Background: Congenital sucrase-isomaltase deficiency (CSID) is an autosomal recessive inherited disease that leads to the maldigestion of disaccharides and is associated with mutation of the sucrase-isomaltase (SI) gene. Cases of CSID are not very prevalent in China or worldwide but are gradually being identified and reported.Case Presentation: We report a case involving a 14-month-old male who presented with failure to thrive that had begun after food diversification and was admitted for chronic diarrhea. We used a whole-exome sequencing (WES) approach to identify mutations in this patient's genome. WES revealed two novel heterozygous mutations in the SI gene, c.2626C > T (p.Q876*) and c.2872C > T (p.R958C), which were confirmed by Sanger DNA sequencing. With a strict sucrose- and starch-restricted diet, the patient's diarrhea was resolved, and he began to gain weight.Conclusions: We report a case of novel variants in the SI gene that caused CSID. This report provides valuable information for the clinical field, especially in China.


2021 ◽  
Vol 8 ◽  
Author(s):  
Xin Chen ◽  
Yuan Wang ◽  
Haiyuan Liu ◽  
Honghui Shi ◽  
Qingbo Fan ◽  
...  

Background: Abdominal aggressive fibromatosis (AF) can be confounded with abdominal wall endomentriosis (AWE) because they share considerable similarity. Because of the different patient prognoses and treatment strategies available, accurate pre-operative diagnosis is important.Case Presentation: We here report two cases of abdominal masses presenting as periodic changes in tumor sizes, which occurred in correlation with the menstrual cycle. The clinical findings were highly suggestive of AWE. However, the final pathological findings revealed AF. The estrogen receptor and progesterone receptor expressions were negative in the two cases. The differences between the two diseases have been discussed in detail.Conclusion: A diagnosis of AWE should be scrutinized closely if the patient does not complain of cyclic pain. Fine-needle aspiration cytology is a suitable tool for pre-operative evaluation.


Author(s):  
Gooya Tayyebi ◽  
Seyed Kazem Malakouti ◽  
Behnam Shariati ◽  
Leila Kamalzadeh

Background: Accurate diagnosis and management of patients with rapidly progressive dementia may be challenging during the COVID-19 pandemic, which has negatively influenced the diagnostic performances, medical resource allocation and routine care for all non-COVID-19 diseases. Case Presentation: We herein present a case of a 57‐year‐old male with rapidly progressive cognitive decline, headache, diplopia, myalgia, unsteady gait, aggression, depression, insomnia, hallucinations and delusions of persecution. COVID-19-associated encephalitis was briefly considered as a differential diagnosis. However, this hypothesis was rejected upon further investigation. A final diagnosis of sporadic Creutzfeldt–Jakob disease was made. Conclusion: A timely and accurate diagnosis of Creutzfeldt–Jakob disease gives patients and their families the chance to receive a good standard of healthcare and avoid extensive evaluations for other conditions.


2021 ◽  
Author(s):  
Rumesh Ranasinghe ◽  
Shifa Azher ◽  
Udaya Ralapanawa ◽  
Parackrama Karunathilake

Abstract Background: Fibromuscular dysplasia (FMD) is a rare, medium-sized arteriopathy affecting less than 7% of the population. It affects predominantly young women of childbearing age. Stroke caused by fibromuscular dysplasia of the carotid artery is uncommon and reported to range between 0.6% by angiography and 1.1% by autopsy. Case Presentation: A 35-year-old mother of two children, previously well, was admitted to our hospital with right-sided spastic hemiparesis with upper motor neuron type facial nerve palsy. Non-contrast CT (NCCT) brain on admission revealed left-sided middle cerebral arterial territory infarction with possible hemorrhagic transformation with midline shift. She had progressive neurological features where NCCT brain in 24 hours showed an increase in the size of the hemorrhage. Magnetic resonance imaging (MRI) of the brain, including angiogram of neck vessels, revealed acute dissection of the left internal carotid artery with acute thrombosis, left frontoparietal hemorrhagic infarction, and the constellation of MRI showed features suggestive of left cervico-cranial fibromuscular dysplasia complicated by acute internal carotid artery dissection. She was started on low-dose aspirin, and 40 mg of atorvastatin and anticoagulants were not started because of the bleeding risk as she had a hemorrhagic transformation infarction. She was discharged and referred for inward physiotherapy and planned to repeat the MRI brain with the neck vessel angiogram in three weeks and arranged digital subtraction angiography in three months. Unfortunately, she was lost for follow-up.Conclusion: Detailed evaluation of the young patients with ischaemic stroke is helpful to diagnose rare diseases such as FMD involving carotid arteries leading to a better treatment choice between anticoagulation vs. antiplatelet therapy.


2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Ameen Marashi ◽  
Marwa Baba ◽  
Aya Zazo

Abstract Background Solar retinopathy is a disease that causes photochemical toxicity in the retinal fovea tissues, leading to an acute decrease of vision. Case presentation This case report is an interventional case of an asymptomatic 17-year-old Caucasian female with a history of suddenly decreased vision due to solar retinopathy. The patient was managed with a custom-made needle injection of triamcinolone acetonide in the suprachoroidal space. Four months post suprachoroidal injection showed an anatomical and functional improvement in the ellipsoid zone layer through optical coherence tomography signal reappearance. In addition, the best-corrected visual acuity had improved from 0.1 to 1.0 on the Snellen chart with the disappearance of the scotoma. However, there was a mild increase in intraocular pressure after this procedure, controlled with topical hypertensive eye drops. Conclusion Suprachoroidal triamcinolone acetonide injection using a custom-made needle showed both functional and anatomical improvement of macular changes post-solar retinopathy, with acceptable safety outcomes in a young female.


2021 ◽  
Vol 11 ◽  
Author(s):  
Jason Cham ◽  
Ayal Shavit ◽  
Aren Ebrahimi ◽  
Miguel Viray ◽  
Paul Gibbs ◽  
...  

BackgroundMelanoma has a wide range of histologic variants and cytomorphologic features that make its diagnosis challenging. Melanoma can also rarely have neuroendocrine markers adding further diagnostic uncertainty particularly given that unrelated tumor types, such as prostate cancer, can also display focal neuroendocrine differentiations.Case presentationOur patient is a 74-year-old Caucasian man found to have a lung mass. Initial biopsy revealed typical microscopic morphology and neuroendocrine differentiation consistent with small cell carcinoma. Despite standard chemoradiation treatment, the patient continued to progress with new metastasis in the brain, liver and bone. Subsequent chest wall biopsy revealed golden-brown pigment associated with melanin. Further tumor immunohistochemistry revealed extensive neuroendocrine differentiation with CD56, synaptophysin, and INSM1, as well as strong immunoreactivity for melanocyte markers including SOX10, S100, PRAME, and MITF, consistent with metastatic melanoma with neuroendocrine differentiation. Genomic testing revealed increased tumor mutational burden and alterations in NF1, BRAF, CDKN2A/B, TERT. The patient was transitioned to checkpoint inhibitor therapy with nivolumab and ipilimumab and had resolution of his intracranial mass and decrease in size of other metastatic lesions.ConclusionOften the combination of anatomic findings such as a lung mass, typical microscopic morphology, and confirmation of neuroendocrine differentiation correctly identifies a patient with small cell carcinoma. However, in a patient who fails to respond to treatment, a broader immunohistochemical workup along with molecular testing with additional tissue may be warranted.


Author(s):  
Xiaoyan Zheng ◽  
Fei Wang ◽  
Lei Wang ◽  
Xiaoli Li ◽  
Jingjing Li ◽  
...  

Abstract Background Cysticercosis is the commonest parasitic disease to affect the central nervous system (CNS). However, cysticercosis affecting the spine is extremely rare. We reported a rare case of cysticercosis involving the whole spinal canal in China. Case Presentation A rare case of cysticercosis involving the entire spinal cord, in a 52-year-old Chinese man, was detected in 2021. Epidemiological investigation, clinical and etiological examination was performed. Conclusion Since spinal cysticercosis is a rare but potentially life-threatening disease, clinicians should always consider the differential diagnosis of space-occupying lesions.


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