The clinical characteristics and the pathogenic gene mutations in two sporadic cases with tuberous sclerosis complex
Tuberous sclerosis complex (TSC) is an autosomal-dominant dis order 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.
Pregnancy luteoma is a non-neoplastic lesion of the ovary relat ed to hormonal effects of pregnancy that is usually discovered incidentally at the time of a caesarean section or during postpar tum 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.
Severe bradycardia that lead to Mobitz type two heart block in a pregnant African American female who got infected with covid-19
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 man aged still remains elusive. We report a case of a 30-year-old Afri can 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. Physical exam revealed severe bradycardia and EKG studies showed second degree Mobitz type 2 heart block.
A 22-day-old full-term previously healthy male infant, present ed 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.
Intra-stent restenosis is an important cause of angina pectoris, and hyperlipidemia has long been considered as the main factor of cor onary stent restenosis. However, the patient we report had inten sive 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 preven tion drugs for coronary heart disease. From 2016 to 2020, the lev el 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.