Medicine
-
Spondyloenchondrodysplasia (SPENCD) is an autosomal recessive skeletal dysplasia by biallelic mutations in ACP5 gene encoding tartrate-resistant acid phosphatase (TRAP). The extra-osseous phenotype of SPENCD is pleiotropic and involves neurological impairment and immune dysfunction. Dentofacial abnormalities and orofacial symptoms in SPENCD patients have been little discussed in the literature. ⋯ These findings extend the phenotypic spectrum of SPENCD and indicate that compromised endochondral ossification and the loss of TRAP activity may affect altered dentofacial development and orofacial symptoms.
-
Case Reports
Convergent strabismus fixus after bilateral abducens nerve palsies due to aneurysms: A case report.
Convergent strabismus fixus is an ocular motor abnormality in which the eye is fixed in adduction. This condition is mostly associated with high myopia and is caused by a displacement of the extraocular muscles. We report a nonmyopic woman with convergent strabismus fixus due to aneurysms. ⋯ Chronic abducens nerve palsies may develop to nonmyopic convergent strabismus fixus without displacement of extraocular muscles, and mass lesions in the brain including aneurysms should be ruled out when orbital MRI cannot explain the condition.
-
Neuroblastoma is the most common extracranial malignant solid tumor that occurs during childhood. It arises from primitive cells and is found in the adrenal medulla and sympathetic ganglia of the sympathetic nervous system. Huge neuroblastoma in the retroperitoneum, especially adult involvement is extremely rare. ⋯ Besides surgical resection, the treatment also included chemotherapy and radiotherapy. However, the optimal treatment remains controversial. Therefore, we should exert all our energies on the exploration of etiology and targeted drugs for this disease.
-
Case Reports
Application of dynamic monitoring of genomic profiles in non-small cell lung cancer: A case report.
Although lung cancer is the leading cause of cancer-related death in the world, targeted therapy plays an essential role in improving the survival of lung cancer. Next-generation sequencing (NGS) technology can dynamically monitor the genomic profiles of tumors and assist cancer diagnosis and treatment. ⋯ The dynamic monitoring of tumor genomic profiles has important implications for NSCLC diagnosis, treatment, and prognosis.
-
Report a case of bilateral multiple retinal hamartomas (RAHs) in a patient with tuberous sclerosis complex (TSC) and introduced a new method (subthreshold micropulse laser photocoagulation) for the treatment of RAHs. ⋯ About 577 nm photocoagulation for the peripheral RAHs in combination with subthreshold micropulse laser photocoagulation for RAHs in the macular zone is a good option for multiple RAHs in patients with TSC.