Nederlands tijdschrift voor geneeskunde
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Ned Tijdschr Geneeskd · Jan 2006
Review[From gene to disease; primary erythermalgia--a neuropathic disease as a consequence of mutations in a sodium pump gene].
Primary erythermalgia is a rare autosomal dominant inherited disorder characterized by recurrent attacks of red, warm and painful burning extremities. The gene involved in primary erythermalgia, SCN9A, encodes for a voltage dependent sodium channel alpha subunit (NaV1.7). NaV1.7 is located in dorsal root ganglions and in nociceptive peripheral neurons. It has been hypothesized that mutations lead to a gain of function and hyperexcitability of peripheral sensory neurons contributing to symptoms in primary erythermalgia.
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Ned Tijdschr Geneeskd · Jan 2006
[Oesophageal endoscopic ultrasound with fine-needle aspiration biopsy in the staging of non-small-cell lung carcinoma; results from 43 patients].
To calculate the number of cervical mediastinoscopies that need not be carried out ifoesophageal endoscopic ultrasound and fine-needle aspiration biopsy (EUS-FNA) are included in the staging of patients with non-small-cell lung carcinoma (NSCLC). ⋯ Based on the findings from EUS-FNA, cervical mediastinoscopy was not performed in 51% of the patient group.