Medicine
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Case Reports
Noninvasive diagnosis of hereditary transthyretin-related cardiac amyloidosis: A case report.
Cardiac transthyretin amyloidosis is a progressive and fatal cardiomyopathy for which several promising therapies are in development. The diagnosis is frequently delayed or missed because of the limited specificity of clinical manifestations, routine electrocardiogram, echocardiography and the traditional requirement for endomyocardial biopsy confirmation. ⋯ While endomyocardial biopsy is not able to performed, this case demonstrates that a combination of noninvasive techniques, especially CMR, nuclear imaging, and genetic testing, may help us to make a correct diagnosis of hereditary transthyretin-related cardiac amyloidosis.
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The main cause of death in melanoma patients is widespread metastases as it can metastasize to almost every organ. However, melanoma skeletal muscle metastases (MSMM) are exceptional, and only a few cases of MSMM to the rectus abdominis muscles have been previously described. And our case maybe the first reported case in Asia region. ⋯ Scalp melanoma with isolated rectus muscle metastasis is extremely rare especially for a young aged patient who had an almost 5-year disease-free period. Surgery is a potentially curative therapy for patients with isolated metastatic melanoma. The goal is negative resection margins, in order to avoid local recurrences. Radical compartmental surgery should be considered for selected stage IV melanoma patients with sole rectus abdominis MSMM, whose disease could be amenable to complete resection, in preliminary procedure to prolong disease-free survival time. For oligometastatic disease, surgical resection is sometimes useful in carefully selected patients after systemic therapy; also, it could be performed as symptomatic treatment.
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Case Reports
Cauda equina syndrome without motor dysfunction following lumbar spinal stenosis surgery: A case report.
Cauda equina syndrome (CES) refers to a group of symptoms that occur when the nerves in the cauda equina become compressed or damaged. The most common etiology of CES is lumbar intervertebral disc herniation, but CES following lumbar spinal surgery is rare, especially without motor dysfunction. Herein, we illustrate a case of CES that developed as a complication of spinal surgery and to deduce its possible underlying cause. ⋯ CES as a complication of lumbar spinal surgery is very rare. Excessive sensitivity to the traction of the dural sac was, in our opinion, the most possible cause of postoperative CES in this case. When the nerve root is pulled intraoperatively, it is best not to cross the central line of the spinous process. The plane of the nerve retractor needs to be parallel to the dural sac at the pulling point to reduce the formation of shear force. Most importantly, gentle maneuver is required because sensitivity to the traction of the dural sac varies individually.
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Case Reports
A novel sequence variant in COL10A1 causing spondylometaphyseal dysplasia accompanied with coxa valga: A case report.
Spondylometaphyseal dysplasia (SMD) is an extremely rare disorder of irregular development of spine and metaphyses of long tubular bones. Mutations in the collagen type X alpha 1 gene were found to underlie this condition. Previously reported mutations in the N-terminal non-collagenous NC2 domain and C-terminal non-collagenous NC1 domain failed to be identified in some specific patients. ⋯ The findings corroborated that type X collagen plays a critical role in the formation of the human spine as well as the long bones, and further expanded the range of type X collagenopathy. Surgical procedure could be considered for patients with severe malformation and neurological impairments.
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Invasive thymoma with intraluminal tumor thrombus may cause pulmonary artery thrombus if the tumor thrombus shed off during operation. However, there is no clinical case report focused on such complication. ⋯ Intraluminal tumor thrombus in invasive thymoma patients has a risk of shedding off during operation. Prevention strategy should be made beforehand. Pulmonary artery exploration is necessary once happened.