Recent advances in the treatment of systemic lupus erythematosus with belimumab in children / 中国当代儿科杂志

Systemic lupus erythematosus (SLE) is an autoimmune disease involving multiple organs, and lupus nephritis (LN) is the most common renal complication of SLE. Belimumab is a fully humanized monoclonal antibody that can reduce the number of B cells, thereby reducing the formation of autoantibodies. Belimumab can improve SLE response index and SLE disease activity score and delay the progression of LN in both adults and children and thus plays an important role in the treatment of SLE and LN. This article reviews related research reports of belimumab used in the treatment of children and adults with SLE in China and overseas and analyzes the efficacy and safety of belimumab in pediatric patients, in order to provide a reference for the clinical application of belimumab in children with SLE.

Clinical study of early endoscopic therapy for severe acute pancreatitis complicated with intra-abdominal hypertension/abdominal compartment syndrome / 中国内镜杂志

Objective To investigate the effects of peritoneal lavage and dialysis by flexible endoscope in patients with early phase severe acute pancreatitis (SAP) complicated with intra-abdominal hypertension (IAH)/abdominal compartment syndrome (ACS). Methods 32 patients with early phase SAP complicated with IAH/ACS were received peritoneal lavage and dialysis by flexible endoscope in base of routine treatment. The release time of peritoneal irritation sign, the duration of intra-abdominal hypertension (IAP), bowel sound, APACHE-II scores and prognosis of the patients were evaluated. The levels of TNF-α and IL-6 in serum, also, the concentrations of TNF-α, IL-6 and amylase in ascites/peritoneal lavage fluid were measured. Results 30 patients were all cured after treatment, with an average hospital stay of (16.53 ± 5.30) d, and, 2 patients underwent surgical treatment. The difference between before and after treatment was significance in peritoneal irritation sign scores, bowel sound, IAP and APACHE-II scores of the patients (P < 0.05). The levels of testing items in serum and ascites/peritoneal lavage fluid were decreased significantly during peritoneal lavage and dialysis. Conclusion Continuous peritoneal lavage and dialysis by flexible endoscope is a safe and effective method for patients with SAP complicated with IAH/ACS, especially in the early stage of disease.

A novel KIT gene mutation results in piebaldism / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect gene mutation in proband and his mother from a family with piebaldism.</p><p><b>METHODS</b>Diagnosis of a patient with piebaldism was validated by pathology, ultrastructural examination and the typical clinical manifestation. PCR and DNA sequencing were carried out to detect gene mutation of a family with piebaldism.</p><p><b>RESULTS</b>G1833A transition in the KIT gene was found in the proband of the family with piebaldism. This mutation resulted in V604I substitution in KIT gene. No mutation was found in 100 normal individuals and other family members.</p><p><b>CONCLUSION</b>The mutation of V604I is the cause of clinical phenotype of the family with piebaldism.</p>

A novel KIT gene mutation from a family with piebaldism in the southern part of China / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect the gene mutation of a family with piebaldism.</p><p><b>METHODS</b>Diagnosis of a patient with piebaldism was constructed by pathology, ultrastructural examination and typical clinical-phenotype. Detection of gene mutation was carried out by PCR and DNA sequencing.</p><p><b>RESULTS</b>G 2528A substitution transition in the KIT gene was found in the proband of the family with piebaldism. This mutation resulted in S850N substitution in protein product of KIT gene. No mutation was found in 100 normal individuals and other family members.</p><p><b>CONCLUSION</b>The mutation of S850N maybe one cause of clinical phenotype of the family with piebaldism.</p>