RESUMEN
Objective: To achieve definite diagnosis in a clinically diagnosed Charcot-Marie-Tooth disease (CMT) pedigree and broaden the mutational diversity of CMT-related mutations in Chinese Han population. Methods: Patients clinically diagnosed with CMT were recruited from Department of Neurology, Chinese PLA General Hospital between December, 2012 to June, 2016. Clinical examination, laboratory tests, nerve conduction studies, and molecular and bioinformatics analyses were performed on a clinically diagnosed CMT pedigree. Results: In the pedigree, a GARS mutation (c.794C>T, p. S265F) was identified and CMT2D was diagnosed. Conclusion: The newly identified GARS mutation has broaden the mutational diversity of CMT2D in Chinese Han population.
Asunto(s)
Enfermedad de Charcot-Marie-Tooth , Linaje , Pueblo Asiatico , Análisis Mutacional de ADN , Humanos , MutaciónRESUMEN
Relapsing polychondritis (RP) is a rare autoimmune disease that affects cartilage throughout the body, causing episodic and progressive inflammation. Although rare, RP has diverse acute and subacute nervous system complications, which may sometimes precede systemic manifestations. Here, we report four patients with RP who presented with meningoencephalitis or meningitis without infectious aetiology. In addition, we review the literature for this disease with regard to clinical manifestations and treatment options.
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Meningoencefalitis/complicaciones , Policondritis Recurrente/complicaciones , Adulto , Ciclofosfamida/uso terapéutico , Femenino , Glucocorticoides/uso terapéutico , Humanos , Inmunosupresores/uso terapéutico , Masculino , Meningoencefalitis/tratamiento farmacológico , Metilprednisolona/uso terapéutico , Persona de Mediana Edad , Policondritis Recurrente/tratamiento farmacológico , Resultado del TratamientoRESUMEN
BACKGROUND/AIM: The clinical characteristics of POEMS (polyneuropathy, organomegaly, endocrinopathy, M-protein and skin changes) syndrome in China are largely unknown. This work thus studied the clinical manifestations of POEMS syndrome in China. METHODS: We retrospectively reviewed the medical records of 82 patients with POEMS syndrome in our hospital and made a comparison with those reported outside China. RESULTS: There were 82 patients. Forty (49%) were 45 years old or younger. Sensorimotor deficits were the common initial symptoms. The clinical manifestations are as follows: (i) peripheral neuropathy and abnormal electromyogram were seen in all patients (100%); (ii) organomegaly was present in 72 patients (88%); 61 of them (74%) had splenomegaly; (iii) endocrinopathy was present in 74 cases (90%); hypothyroidism was seen in 51 of 70 patients (73%); (iv) 60 patients (73%) had monoclonal plasmaproliferative disorder; only 22 of 40 (55%) had M-protein; (v) skin changes were seen in 71 patients (87%); (vi) 68 patients (83%) had oedema and effusions; of these, hydropericardium was seen in 23 patients (28%); (vii) 35 of 55 patients (64%) had abnormal electrocardiogram and only 21 of 46 (46%) had bone lesions in X-ray. CONCLUSIONS: POEMS syndrome in China has its own distinctive features, parts of which are commoner in the young people, the higher frequency of splenomegaly, hypothyroidism, hydropericardium and abnormal electrocardiogram, as well as the lower M-protein and bone lesions in X-ray.
Asunto(s)
Glicoproteínas/fisiología , Síndrome POEMS/diagnóstico , Síndrome POEMS/etnología , Adolescente , Adulto , Anciano , China/etnología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Síndrome POEMS/clasificación , Estudios Retrospectivos , Enfermedades de la Piel/clasificación , Enfermedades de la Piel/diagnóstico , Enfermedades de la Piel/etnología , Adulto JovenRESUMEN
The levels of vasoactive intestinal peptide (VIP) in three regions of rat brain were assayed in 62 rats. Bilateral common carotid artery ligation was done in 50 rats. Half an hour before ligation 26 rats were given 10 g/kg of Radix Salviae Miltiorrhizae (RSM); 24 rats were given same volume of normal saline as controls. A sham operation was done in 12 rats. Half an hour (n = 30) and 3 hours (n = 32) after operation, the rats were quickly decapitated. VIP levels were assayed in cerebral cortex, hippocampus and caudate nucleus. In salin-treated animals, VIP levels of cerebral cortex and caudate nucleus at 3 hour group were significantly decreased compared with the sham-operated group. No significant difference was found between RSM-treated and sham-operated groups. The preliminary results suggest that VIP may be involved in the pathophysiological procedures of cerebral ischemia and RSM may attenuate the dysfunction of VIP during cerebral ischemia.