Volume 9

A Case of Childhood Burkitt’s Lymphoma with Gingival Swelling as The First Symptom

Case Report

1. Abstract
Burkitt’s lymphoma (BL) is a highly infiltrative malignant lymphoma caused by germinal B-cell differentiation. There are several oral symptoms of BL, including tooth mobility, pain, gingival swelling, maxillofacial swelling and pain, and facial sensory disturbances. In this paper, we report a case of BL in a 4-year-old child who initially presented with gingival swelling. The diagnosis of BL/leukemia (stage IV) was confirmed by the bone marrow examination, bone marrow flow cytometry, and B lymphocytoma mutation gene screening test. After chemotherapy, the general condition improved, and then there was swelling and pain in the right cheek. Considering the recurrence of the disease, the patient died half a year later. This case is characterized by BL with oral symptoms as the first symptom, emphasizing the important role of physicians in early detection of systemic disease.

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A Difficult Diagnosis of Intraductal Papillary Neoplasia of the Bile Duct (IPNB): A Case Report and Review of Surveillance, Epidemiology, And End Results

Case Report

1. Abstract
1.1. Background
Intraductal papillary neoplasm of the bile duct (IPNB) is a rare biliary tumor characterized by papillary growth in the bile duct, a high risk of malignant transformation, and an unknown prognosis. IPNB diagnosis has always been challenging, especially when the tumor is difficult to detect by imaging. Smaller IPNB tumors are difficult to diagnose preoperatively using only noninvasive imaging examination, and bile duct stones can impact the successful diagnosis of IPNB.

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Pregnancy Luteoma: A Case Report

Case Report

1. Abstract
Pregnancy luteoma is a non-neoplastic lesion of the ovary related to hormonal effects of pregnancy that is usually discovered incidentally at the time of a caesarean section or during postpartum tubal ligation. We herein report a case of a 33year-old full-term pregnant female who presented with abdominal pain and a right-sided ovarian mass.
2. Introduction
Luteoma of pregnancy is a rare ovarian lesion, first described by Sternberg in 1963 [1] and thought to arise from excessive response of ovarian stromal cells to pregnancy hormones, especially beta-human chorionic gonadotropin (β-hCG) [2]. Pregnancy luteoma represents a diagnostic and therapeutic challenge in that it can mimic a malignant ovarian neoplasm [3]. As pregnancy luteoma usually regress spontaneously postpartum [1] a high clinical suspicion is mandatory for appropriate therapeutic management.

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The Clinical Characteristics and the Pathogenic Gene Mutations in Two Sporadic Cases with Tuberous Sclerosis Complex

Case Report

1. Abstract
1.1. Background
Tuberous sclerosis complex (TSC) is an autosomal-dominant disorder characterized by hamartomas in multiple organ systems. Variants in the TSC1 and TSC2 gene lead to the dysfunction of the hamartin or tuberin proteins, respectively, which causes tuberous sclerosis complex.
1.2. Case Presentation
We report two sporadic cases of patients with TSC2 variants. Both patients showed multiple organ system involvement. Gene analysis showed that both patients had nonsense variants that led to the premature truncation of peptide chain synthesis. A novel nonsense variant of the TSC2 gene (c.94G>T, p.E32X) was identified. Another nonsense variant of the TSC2 gene (c.4515C>G, p.Y1505X) has been reported before.
1.3. Conclusion
We identified a novel pathogenic TSC2 variant, c.94G>T, which enriches the gene variant database.
2. Background
Tuberous sclerosis complex (TSC), otherwise known as Bourneville’s disease, is a rare autosomal-dominant disease with an incidence of 1/6000 -1/10,000 [1]. TSC is a neurocutaneous disease that is characterized by the development of hamartomas in a variety of tissues and organs throughout the body, including the brain, skin, heart, lungs and kidneys [2]. Clinically, almost all patients suffer from the characteristic manifestations of facial angiofibromas, epilepsy and mental disorders, accompanied by behavioural abnormalities, shagreen patches, subependymal nodules (SENs), subependymal giant cell astrocytomas (SEGAs), cardiac rhabdomyomas, renal angiomyolipomas (AMLs) and renal cysts. Most cased of TSC are caused by genetic heterogeneity in the TSC1 and TSC2 genes located on chromosomes 9q34.3 and 16p13.3, respectively. TSC1 and TSC2 encode the hamartin and tuberin proteins, respectively, which act as tumour growth suppressors. Hamartin and tuberin control cell growth by negatively regulating S6 kinase 1 and eukaryotic initiation factor 4E binding protein 1, potentially through their upstream modulator mammalian target of rapamycin (mTOR) [3]. They constitute a functional complex to regulate cell proliferation, growth, adhesion, and vesicle transport. When a variant occurs in TSC1 or TSC2 gene, the mTOR pathway is triggered, causing uncontrolled cell growth and thereby tumour formation [4]. The two patients presented in this article were diagnosed with TSC according to the recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference [5].

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Severe Bradycardia That Lead to Mobitz Type Two Heart Block in A Pregnant African American Female Who Got Infected with Covid-19

Case Report

1. Abstract

Impact of COVID-19 on certain patient populations have been described extensively in several studies. However, the impact of COVID-19 on pregnant patients and how they can be safely managed still remains elusive. We report a case of a 30-year-old African American pregnant woman who presented with a six (6) day history of cough with whitish expectorant, exertional shortness of breath and diffuse generalized body aches. She was admitted and managed with a bolus dose of Remdesivir, however on day eight (8) she had symptoms of dyspnea, chest pain, fatigue and became
diaphoretic and pale.
.

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A Male Infant with Vomiting

Case Report

1. Case Presentation
A 22-day-old full-term previously healthy male infant, presented to the emergency department with persistent non-projectile, non-bloody, non-bilious vomiting for 4 days. His parents reported that he drank only 60 to 70 ml of formula per feed, as compared with the 90 to 110 ml per feed he had drunk in the previous day. Physical examination was unremarkable. Point-of-care ultrasound (POCUS) of the abdomen revealed thickening of the pylorus canal (Figure1).

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Restenosis after PCI with Intensive Lowing Density Lipoprotein Cholesterol Reduction: A Case Report

Case Report

1. Abstract
Intra-stent restenosis is an important cause of angina pectoris, and hyperlipidemia has long been considered as the main factor of coronary stent restenosis. However, the patient we report had intensive lowing density lipoprotein cholesterol level, which in turn led to recurrent episodes of angina and severely affected the quality of life. A 66-year-old woman with Hypertension and Type 2 diabetes was admitted to our hospital,who had suffered intermittent chest pain for more than 4 years. She regularly took secondary prevention drugs for coronary heart disease. From 2016 to 2020, the level of blood lipids, especially low density lipoprotein cholesterol (LDL-C) decreased gradually, with a minimum of 0.64mmol/L. She had experienced 10 times of coronary angiographies, 8 stents were implanted, 2 coronary artery bypass grafts were grafted, and multiple drug balloon dilations were performed. There was no significant abnormality in ANA spectrum, coagulation and anticoagulant test, electrolyte detection, immune indexes of lupus and cardiac ultrasonography. In this case, there was no clear family history, and no abnormality of related auxiliary examinations, only the LDL-C was decreasing gradually. This leads to the debate that whether intensive lowing density lipoprotein cholesterol level is related to repeated restenosis after interventional operations.

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Texture Analysis of Quantitative ADC Maps to Differentiate Low from High Grade Glioma

ReviewArticle

1. Introduction
Accurate discrimination between high grade gliomas (HGG) and metastatic brain tumor (MET) using noninvasive imaging is essential for selecting appropriate surgical and radiotherapy treatments and for determining the treatment response.
2. Brain Tumors
Any uncontrolled growth of abnormal cells is called a tumor and when located within the brain they are known as brain tumors. They are categorized into Primary and Secondary brain tumors in which Primary brain tumors are tumors that arise from the cells, the meninges or neurons in the brain and Secondary tumors are those that do not initiate in the brain. The most common primary ones are Gliomas and Meningiomas. Gliomas are derived from glial cells such as astrocytes, oligodendrocytes, and ependymal cells. World Health Organization (WHO) classifies gliomas into four categories on the basis of their histologic features and malignancies.

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Whole Tumor Volume Based Histogram Analysis of ADC for Differentiating between who Grade II and III Glioma

ReviewArticle

1. Introduction
The therapeutic approaches and prognosis for gliomas differ considerably for different tumor grades, it is hence important to accurately assess glioma grade for treatment planning. In addition to the use of conventional mean value, several studies have reported the use of histogram analysis of ADC in glioma grading [1,2]. However only the differentiation between low grade and high grade was concerned, whereas differentiation between grade II and III remains challenging. A limitation in previous studies could be the use of multiple ROIs in a section of the tumor lesion, which may underestimate the heterogeneity of glioma cellularity. In this study, the differential diagnostic value of histogram analysis of ADC signal value based on entire region of grade II and III tumor is investigated, and further aimed at revealing the microscopic changes of glioma in the evolution of low grade to high grade.

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The Role of Mutations on Genes PLAGL1 & ZEP57 in 6q24-Related Transient Neonatal Diabetes Mellitus Syndrome

ReviewArticle

1. Abstract
6q24 Transient Infant Diabetes Syndrome is a type of diabetes that occurs in infants. This form of diabetes is characterized by high blood sugar levels (hyperglycemia) caused by a lack of the hormone insulin. 6q24 neonatal transient diabetes syndrome is caused by the overactivity (overexpression) of certain genes in an area of the long arm (q) of chromosome 6 called 6q24. Humans inherit two copies of their genes, one from the mother and the other from the father.

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