Two novel STK11 mutations in three Chinese families with Peutz-Jeghers syndrome.

BACKGROUND: Peutz-Jeghers syndrome (PJS) is an autosomal dominantly inherited disease. STK11/LKB1 gene germline mutations have been identified as responsible for PJS. In our study, we investigated the molecular basis of PJS and evaluated correlation between the STK11 mutations and the Chinese population. METHODS: We collected three pedigrees of PJS and screened the 9 exons and their flanking intronic sequences of STK11/LKB1 gene in the probands and normal individuals in the families using polymerase chain reaction (PCR) and direct sequencing. RESULTS: Sequencing of the STK11 gene in the probands of 3 families revealed two novel mutations (c180C-->G and c998-1002delGCAGC) in exon 1 and exon 8, respectively. The mutation of c180C-->G resulted in a premature termination codon. The other mutation, a deletion of five nucleotides (998-1002delGCAGC) in exon 8, predicted to generate a translational frameshift and a termination at codon 1070. CONCLUSIONS: The growing number of mutations in PJS pedigrees suggests the molecular basis of PJS. STK11 gene mutation can be detected in most patients with PJS.

[Diagnosis and treatment of relapsing polychondritis].

OBJECTIVE: To explore the diagnosis and treatment of relapsing polychondritis (RP). METHODS: The clinical manifestations, diagnosis, and treatment of 24 patients with RP were retrospectively analyzed. Twenty-four RP patients were examined for autoimmune antibody. Laryngoscopy was performed in 4 out of 6 RP patients with laryngeal involvement. Bronchoscopy was performed in 12 out of 19 RP patients with lower respiratory tract involvement. Biopsies were taken from the cartilage involved in 16 out of 24 patients. RESULTS: Five patients were ANA positive at present, 2 patients were SSA antibody positive, 2 patients were anti-RNP antibody positive, and 2 patients were anti-Sm antibody positive. Laryngoscopy revealed vocal fold edema and laryngeal stenosis. Bronchoscopy showed stenosis of trachea and both main bronchi and destruction of tracheobronchial cartilage. Histopathology revealed chronic inflammation of cartilage. Treatment included immunosuppressants (cyclophosphamide, methotrexate) together with prednisone. Eleven patients with respiratory tract involvement had laryngotracheostomy or airway stenting. Twenty-three patients alleviated after treatment, and 1 patients died. CONCLUSIONS: RP involves cartilage and connective tissue. Laryngotracheobronchial complications are the most severe manifestations of this disease. Corticosteroids and immunosuppressive drugs are effective treatment options. Patients with laryngotracheal stenosis and collapsed tracheobronchial wall should receive laryngostomy, tracheostomy, or airway stenting to improve airway obstruction symptoms.

[Application of imiquimod and resiquimod in dermatology].

Imiquimod (R-837) and Resiquimod (R-838), two novel small-molecular-weight immune response modifiers, have similar structure. They have anti-virus and anti-tumor activities and can be used as B lymphocyte activators and adjuvants. They are widely used in dermatology to treat virus dermatoses and cutaneous benign or malignant tumors.