Medicine
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Rhabdomyoma is the most common type of fetal heart tumors and 50% to 60% of cardiac rhabdomyomas are associated with tuberous sclerosis complex (TSC). TSC is characterized by hamartomas in multiple organ systems including the brain, heart, skin, lungs, and kidneys, resulting in complications such as learning difficulties, epilepsy, behavioral problems, and renal failure. The etiological diagnosis of Rhabdomyoma is very important. ⋯ For fetuses suspected of TSC, when pathogenic mutations are detected in the tuberous sclerosis 1 (TSC1) or TSC2 gene, it is recommended that the parents should be screened by deep NGS and their germ cells are screened as well if necessary, which would help to predict the risk of TSC recurrence in the next pregnancy.
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These years, due to dissatisfaction with western medicine treatments, traditional Chinese medicine (TCM) becomes a main treatment for bronchial asthma patients. Lung and kidney yang deficiency syndrome is a common type of asthma and the Chinese herbal medicine formula modified Mahuang-Fuzi-Xixin (MFX) decoction is prescribed for mild bronchial asthma patients with acute exacerbation syndrome. However, there is not obvious evidence to support the efficacy and safety of modified MFX decoction the efficacy and safety to treat mild bronchial asthma and the mechanism of this disease is still unclear. ⋯ The results of this trial will provide the evidence for the effect of modified MFX decoction in patients with mild bronchial asthma during acute exacerbation. It also will explore the mechanism of this formula in the treatment of bronchial asthma, which will provide another treatment option for patients with mild bronchial asthma.
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Imbalances in the gut microbiota mediate the progression of neurodegenerative diseases such as Parkinson's disease (PD). Fecal microbiota transplantation (FMT) is currently being explored as a potential therapy for PD. The objective of this study was to assess the efficacy and safety of FMT on PD. ⋯ These AEs were mild and self-limiting. We conclude that FMT can relieve the motor and non-motor symptoms with acceptable safety in PD. Compared with nasointestinal FMT, colonic FMT seems better and preferable.
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Gastroesophageal reflux disease is a common and troublesome condition. This paper reports a rare case of gastroesophageal reflux disease caused by ectopic biliary drainage accompanying the absence of a pyloric channel and duodenal bulb in a female patient with multiple underlying malformations. ⋯ The combination of an absent pylorus and ectopic papilla is a rare cause of reflux esophagitis. Unusual gastrointestinal anatomical variations may be accompanied by other malformations. Though no remarkable mutation were detected in this case, sequencing is an efficient technique worth full consideration.
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Achilles tendon rupture is common, but bilateral ruptures are very rare. Treatment of chronic Achilles tendon rupture is very challenging due tendon retraction and atrophied. We report a case of bilateral asynchronous Achilles tendon rupture patient who was treated with modified minimally invasive whole flexor hallucis longus (FHL) tendon transfer to repair the defects. ⋯ Surgical intervention is among the primary treatment of chronic Achilles tendon rupture. However, one of the challenges in its treatment is providing suitable graft for tendon reconstruction. Our case presents a successful reconstruction procedure using less-invasive whole FHL transfer technique. This surgical technique provides satisfactory clinical and functional outcome and can be considered for future therapy.