Progressive pseudorheumatoid dysplasia misdiagnosed as ankylosing spondylitis: a case report / 北京大学学报(医学版)

In this study, we reported a case of progressive pseudorheumatoid dysplasia in Peking University Third Hospital. A 56-year-old male patient presented with hip joint pain for more than 40 years and multiple joints pain with limitation of movements of these joints for 28 years. This patient suffered from joint pain and impaired range of motion of the hip, knee, elbow and shoulder gradually, associated with difficulty in walking and inability to take care of himself. He was diagnosed with "femoral head necrosis" or "ankylosing spondylitis" in local hospitals, but the treatment of nonsteroidal antiinflammatory drugs (NSAIDs) and sulfasalazine was not effective. Up to the age of 14, the patient displayed normal physical development, with the highest height was about 158 cm, according to the patient recall. However, his height was 153 cm at present. There was no history of similar illness in any family member. Physical examinations descried limitation of movement of almost all joints. Enlargement and flexion deformity of the proximal interphalangeal (PIP) joints of the hands resulted in the claw hand appearance. Limited abduction and internal and external rotation of the shoulder and hip could be find. He had normal laboratory findings for blood routine test, biochemical indexes and acute phase reactants such as C-reactive protein (CRP) and erythrocyte sedimentation rate (ESR). Furthermore, HLA-B27 and autoimmune antibodies such as rheumatoid factor (RF), anti-cyclic citrullinated peptide (anti-CCP) antibody and antinuclear antibody (ANA) were all negative. X-ray of the hip showed loss of the joint space and irregularities of the femoral head, both femoral head were flattened, it could be see hyperplasia, osteophytes, bilateral femoral neck thicken, neck dry angle turned smaller. The radiological findings of the spinal vertebra indicated kyphosis deformity, narrowing of the intervertebral discs, vertebral syndesmophytes and flattening of the vertebra. However, there was no clues of bone marrow edema in the lumbar MRI. At last, genetic testing for the Wnt1-inducible signaling pathway protein 3 (WISP3) gene was done and indicated compound heterozygous mutations: 756C>G and c.866dupA. These two mutations were derived from the patient's mother and father (the patient's parents each had a heterozygous mutation). Two exons of the WISP3 gene had nucleotide changes leading to amino acid mutations. According to the patient's history, symptoms, physical examinations, radiological findings and genetic testing, the final definitive diagnosis was progressive pseudorheumatic dysplasia.

Effects of linggui zhugan decoction combined calorie restriction on the insulin resistance of model rats and mechanisms research / 中国中西医结合杂志

<p><b>OBJECTIVE</b>To explore the effects of Linggui Zhugan Decoction (LZD) combined calorie restriction on fasting plasma glucose (FPG), the insulin resistance (IR), and the peroxisome proliferator-activated receptor gamma (PPAR-gamma) of IR model rats.</p><p><b>METHODS</b>Totally 48 male Wistar rats were randomly divided into the control group, the model group, the calorie restriction group, and the TCM + calorie restriction group, 12 in each group. Ordinary forage was given to those in the control group, and high fat diet was fed to those in the rest 3 groups for 12 weeks to establish the IR model. After successful modeling, rats in the control group and the model group were continually fed with the original farage for 4 days. The normal saline at the daily dose of 20 mL/kg was given to them by gastrogavage. The normal saline at the daily dose of 20 mL/kg was given to rats in the calorie restriction group by gastrogavage after 4-day calorie restriction. LZD at the daily dose of 20 mL/kg was given to rats in the TCM +calorie restriction group by gastrogavage after 4-day calorie restriction. The body weight, FPG, serum fasting insulin (FINS), insulin resistance index (IRI), and the protein expression of PPAR-y in the omental adipose tissue were compared.</p><p><b>RESULTS</b>After 4-day calorie restriction, the body weight obviously decreased in the calorie restriction group and the TCM +calorie restriction group, when compared with the model group (P <0.01). There was no statistical difference between the former two groups (P >0.05). The FINS and IRI obviously decreased in the calorie restriction group (P <0.01, P <0.05). The FPG, FINS, and IRI significantly decreased in the TCM + calorie restriction group (P <0. 05, P <0.01). The protein expression of PPAR-gamma obviously decreased in the calorie restriction group and the TCM + calorie restriction group (P <0.01).The phlegm dampness state was alleviated, with more significant effects shown in the TCM + calorie restriction group.</p><p><b>CONCLUSIONS</b>LZD combined calorie restriction could reduce the body weight, FPG, and IRI of IR rats. Besides, it showed better effects than calorie restriction alone. Its effects in improving IR might be correlated with inhibiting the activities of PPAR-gamma. Meanwhile, it might play a role in inhibiting the differentiation of fat cells.</p>

The nasal development after one-staged correction of nose deformity and unilateral complete cleft lip in infancy / 中华整形外科杂志

<p><b>OBJECTIVE</b>To introduce one-staged correction of nasal deformity and unilateral complete cleft lip in infancy and to observe the nasal development after the operation.</p><p><b>METHODS</b>The unilateral complete cleft lip and nasal deformity were corrected in one stage in27 cases. They were followed up for several years. With post-operative photos, the anthropometric method was used to analyze the nasal development.</p><p><b>RESULTS</b>The long-term results were excellent in 10 cases, good in 14 cases, and poor in 3 cases.</p><p><b>CONCLUSIONS</b>Based on the anatomic findings of nasal blood supply, one-staged correction of nasal deformity and unilateral complete cleft lip in infancy can be performed with no obvious interference with nasal development. The secondary nasal deformity before school age can be alleviated or avoided.</p>

A clinical study of presurgical nasoalveolar molding in infants with complete cleft lip and palate / 中华口腔医学杂志

<p><b>OBJECTIVE</b>To observe the clinical effect of presurgical nasoalveolar molding in infants with complete cleft lip and palate.</p><p><b>METHODS</b>Presurgical nasoalveolar molding was performed in 38 infants with cleft lip and palate (26 patients with unilateral cleft lip and palate, 12 patients with bilateral cleft lip and palate), aged between 5 and 30 days. The width of alveolar cleft was measured before and after the operation and the effect of treatment was assessed.</p><p><b>RESULTS</b>After 108 - 152 days of therapy, the average width of alveolar cleft decreased by 5.3 mm in 26 patients with unilateral cleft lip and palate. Nasal profile was improved in 76 percent of cases. In 12 patients with bilateral cleft lip and palate, the average width of left cleft decreased by 4.7 mm and that of the right decreased by 4.2 mm. The distance between right and left cleft increased by 5.1 mm. Nasal profile was improved in 66 percent of cases.</p><p><b>CONCLUSION</b>Presurgical nasoalveolar molding in complete cleft lip and palate can improve nasal profile and decrease the width of alveolar cleft.</p>