Medicine
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Many guidelines for nonsurgical treatment of pancreatolithiasis suggest little guidance for patients with pancreatolithiasis who do not have abdominal pain. Some patients with pancreatolithiasis whom we have treated nonsurgically with extracorporeal shock-wave lithotripsy did not have abdominal pain, and we describe one of them here. ⋯ We believe that nonsurgical treatment of pancreatolithiasis was helpful for this patient, and could improve exocrine and endocrine function in other patients without abdominal pain.
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Hereditary motor-sensory peripheral neuropathy, or Charot-Marie-Tooth (CMT) Charcot-Marie-Tooth disease is an inherited peripheral neuropathy characterized by progressive limb weakness and muscle atrophy. As the disease progresses, sensory and autonomic involvement may occur. We report a case of CMT associated with SOD1 gene mutation, in order to provide new ideas for clinical disease diagnosis. ⋯ The clinical manifestations and electromyography results of this patient are consistent with the characteristics of CMT. The peripheral nerve-related hereditary gene test found mutation in SOD1. It is possible that this mutation is linked to CMT. The disease is a neurodegenerative disease, that may be slowed by physical therapy and rehabilitation, but could not be healed.
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Case Reports
Disseminated cryptococcosis mimicking malignant lymphoma on 18F-FDG PET/CT: A case report.
Disseminated cryptococcosis is extremely rare and is easily misdiagnosed as a malignant lymphoma. 18F-Fluorodeoxyglucose Positron Emission Tomography (PET)/ computed tomography (CT) may be useful to assess the involvement of disseminated cryptococcosis and to evaluate residual disease after treatment. ⋯ Disseminated cryptococcosis is easily misdiagnosed as malignant lymphoma, especially when the lymph nodes are more involved. When multiple hypermetabolic enlarged lymph nodes appear on PET/CT, except for lymphoma, specific infections should also be considered.
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Case Reports
Whole exome sequencing combined with dynamic ultrasound assessments for fetal skeletal dysplasias: 4 case reports.
Fetal skeletal anomalies are one of the most common and potentially pathogenic developmental abnormalities detected by ultrasound screening. Any suspected fetal skeletal dysplasias often require further comprehensive evaluations. ⋯ Invasive prenatal diagnosis and dynamic assessments for the management of fetal skeletal dysplasias could contribute to revealing possible causes of fetal skeletal abnormalities and help clinicians conduct further genetic counseling in clinical practice.
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Case Reports
Prenatal diagnosis and genetic analysis of a fetus with Branchio-oto-renal syndrome: A case report.
Branchio-oto-renal (BOR) syndrome is an autosomal-dominant disorder characterized by branchial arch anomalies, hearing loss, and kidney defects. Mutations in the human EYA1 gene have been reported associated with BOR syndrome. Here we identified that a novel variant, EYA1: NM_000503.4: c.827-1G > C (Intron 8, shear mutation) was associated with BOR in a fetus of a Chinese family. ⋯ Combined with fetal imaging examination, the novel variation of EYA1: NM_000503.4: c.827-1G > C is the cause of fetal renal dysplasia. This case report indicates that the early use of appropriate technology can clarify the etiology of fetal disease and guide prognosis consultation.