[CT Characteristics of Consolidation Type of Pulmonary Cryptococcosis in Immunocompetent Patients].

Objective To analyze the CT characteristics of consolidation type of pulmonary cryptococcosis in immunocompetent patients,and thus improve the diagnosis of this disease. Methods A total of 20 cases with consolidation-type pulmonary cryptococcosis confirmed by pathological examinations were studied.Each patient underwent breath-hold multislice spiral CT,and 10 patients underwent contrast enhanced CT.

[CT findings of tuberous sclerosis associated with hepatic and renal angiomyolipomas].

Objective: To summarize the clinical and computed tomographic(CT) findings of tuberous sclerosis(TS) associated with hepatic and renal angiomyolipomas.

Method: We retrospectively analyzed the clinical and CT findings of 7 TS patients with hepatic and renal angiomyolipomas.

Results: Brain CT showed calcified nodules and/or the uncalcified nodule in the lateral ventricle subependymal in 7 patients.

[Two novel mutations of GJB1 gene associated with typical X-linked Charcot-Marie-Tooth disease].

Objective: To analyze the relationship between phenotype and genotype and the role of immune cells in the pathogenesis of X-linked Charcot-Marie-Tooth disease (CMT1X).

Methods: The probands of the two families with X-linked dominant inherited peripheral neuropathy were evaluated clinically, electrophysiologically, pathologically and genetically. The available family members were genetic analyzed and the novel mutations were compared with other known ones.

[Diagnostic value of muscle, sural nerve and skin biopsies in childhood neuromuscular disorders].

Objective: To elicit the usefulness of muscle, sural nerve and skin biopsies in neuromuscular disease, including its diagnostic value and indications for biopsy.

Method: The authors retrospectively evaluated the clinical data of every patient who underwent muscle, sural nerve and/or skin biopsy in the department between January 1999 and December 2004.

Result: One hundred and two patients with the suspected neuromuscular diseases were included.