Medicine
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Case Reports
A novel homozygous deletion in ATP6V0A4 causes distal renal tubular acidosis: A case report.
Autosomal recessive distal renal tubular acidosis (dRTA) is a rare condition, most cases of which are caused by genetic mutations. Several loss-of-function mutations in the ATP6V0A4 gene have been recently reported. ⋯ This is the first case of a homozygous deletion in ATP6V0A4 reported in the literature. Although the initial auditory screening was normal in this case, this patient will nevertheless undergo long-term auditory testing.
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Paradoxical embolism (PDE) refers to direct passage of venous thrombi into the arterial circulation through an arteriovenous shunt. It is well-known that the pulmonary thromboembolism (PTE) can cause opening of the foramen ovale leading to paradoxical arterial embolism. Long term follow up of PDE patient over 10 years was not reported in the literature. ⋯ The patient is currently stable with no abnormalities seen in the deep veins of the bilateral lower limbs. The international normalized ratio (INR) was controlled within the range of 1.20 to 1.51. As this is a 10-year follow-up case report, the patient has responded well to the treatment and has been followed-up. The follow-up has been annual and the patient has been stable CONCLUSION:: Low intensity and persistent anticoagulation therapy can inhibit blood thrombophilia and reduce the risk of bleeding. It is noteworthy that such an approach used effectively in this patient. To best our knowledge, it is first report for long term follow up PDE patient successfully over 10 years.
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Case Reports
A "coughed up" tissue diagnosed as type A thymoma in an 80-year-old man: A case report.
Thymoma is the most common primary tumor in the anterior mediastinum. All major subtypes of thymoma can be clinically aggressive. However, type A thymoma is usually benign and rarely invasive, let alone invasive to the trachea. There are no published reports of thymoma diagnosed in a "coughed up' tissue". Here, we report an 80-year-old man who coughed up a piece of tissue which was histopathologically diagnosed as type A thymoma. ⋯ The type A thymoma could be slowly aggressive. If left untreated, it would also invade into the trachea. When treat a patient with history of even a benign tumor, we should always bear the rare possibility in mind to avoid misdiagnosis. For an elderly patient, a "wait and see" policy may be acceptable.
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Case Reports
Intertrochanteric fracture with low-energy trauma in a young woman with anorexia nervosa: A case report.
Anorexia nervosa is a chronic psychiatric disease defined by severe weight loss, due to fear of obesity, and self-imposed semi-starvation. Of the many complications following anorexia nervosa, low bone mineral density (BMD) is a significant risk factor for fractures. Anorexia nervosa is associated with higher risk of incident fracture in females across all age groups, and in males >40 years old. Sites at highest risk of fracture include the hip/femur and pelvis in females, and vertebrae in males with anorexia nervosa. ⋯ Here, we describe an unusual case of unilateral femoral intertrochanteric fracture that occurred after clinical recovery from anorexia nervosa. This case indicated that the risk of fracture remains even after recovery of BMI. We propose that women who have clinically recovered from anorexia nervosa should be advised to undergo annual osteodensitometric analyses after consulting with specialists in other areas (psychiatry, endocrinology, eating disorders).
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Case Reports
A case report of cholangiocarcinoma combined with moderately differentiated gastric adenocarcinoma.
Multiple primary carcinoma (MPM) refers to simultaneous or successive occurrence of ≥2 types of primary malignant tumors in a single organ or in different organs of the same individual. It is rarely seen in clinical practice. Among the various types of MPM, hilar cholangiocarcinoma combined with gastric cancer is extremely rare. ⋯ This report reminds us to pay close attention to the likelihood of MPM and other low-incidence diseases. The physicians and imaging clinicians should explore all clinical possibilities to avoid misdiagnosis of this rare disease and formulate effective treatment plans to maximize the therapeutic benefits for the patient.