Multiple endocrine neoplasia-IIb with RET gene mutation p.M918T： A case report / 中南大学学报(医学版)

Multiple endocrine neoplasia-IIb (MEN-IIb) is a rare hereditary autosomal dominant syndrome caused by mutations in the RET proto-oncogene. It's characterized by medullary thyroid carcinoma (MTC), pheochromocytoma (PHEO), mucosal neuromas, and Marfanoid habitus. Because of the rarity of MEN-IIb and finiteness of clinical cognition, the majority of the patients suffer a delayed diagnosis. A MEN-IIb patient with the lingual mucosal neuromas since childhood was admitted in the Third Xiangya Hospital of Central South University in November, 2018. He had surgical history of mitral valve prolapse and spinal deformity. He was diagnosed with MTC and PHEO at the age of 22 and 28, respectively, and received surgical treatments. Sequencing of RET gene revealed a de novo heterozygous p.M918T mutation in the patient. Being aware of the unique clinical phenotype and screening of RET gene mutation may lead to the early diagnosis and better long-term outcome for MEN-IIb.

Two cases of autoimmune polyendocrine syndrome type Ⅰ caused by AIRE gene mutation / 中华内分泌代谢杂志

Objective@#Autoimmune polyendocrine syndrome type Ⅰ(APS-Ⅰ) is caused by mutations in the autoimmune regulator gene (AIRE) gene. In this study, phenotype and AIRE gene analysis were performed in two patients with APS-Ⅰ.@*Methods@#Peripheral blood samples were collected from two patients with APS-Ⅰ and their families. All exons of the AIRE gene and adjacent exon-intron sequences were amplified by PCR and subsequently sequenced. The silico analysis was performed to predict the possible impact of the mutations on the function of the AIRE protein. At the same time, 100 healthy controls were selected to confirm the mutation.@*Results@#Case 1 was a 31-year-old female who exhibited chronic mucocutaneous candidiasis, hypoparathyroidism, Addison′s disease, Hashimoto′s thyroiditis, and premature ovarian failure. A homozygous c. 483_484insC mutation in exon 4 of AIRE gene was identified in this patient. Her parents, siblings and son were heterozygous for this mutation, which is consistent with the autosomal recessive inheritance pattern. Case 2 was a 34-year-old male who had mucocutaneous candidiasis, Addison′s disease, primary hypoparathyroidism, and Hashimoto′s thyroiditis. A compound heterozygous AIRE mutation (c.179A>G/C.463+ 2T>C) were identified in this patient. His father was heterozygous for c. 179A>G mutation, and his mother was heterozygous for C. 463+ 2T>C, which is consistent with autosomal recessive inheritance mode. The c. 483_484insC and c. 463+ 2T>C have been reported to be pathogenic. The c. 179A>G mutation was predicted pathogenic by SIFT and PolyPhen2 software, which was not detected in 100 healthy controls. It has not been reported in the HGDM database and is a novel mutation.@*Conclusion@#We identified a novel AIRE gene mutation (c.179A>G), which contributed to further understanding of the pathogenesis of APS-Ⅰ. The clinical variation and rarity of APS-Ⅰ makes the syndrome hard to recognize. Early recognition of symptoms and screening for AIRE mutation in patients with APS-Ⅰ has important clinical implications for the diagnosis and treatment.

Two cases of autoimmune polyendocrine syndrome typeⅠcaused by AIRE gene mutation / 中华内分泌代谢杂志

Objective Autoimmune polyendocrine syndrome typeⅠ( APS-Ⅰ) is caused by mutations in the autoimmune regulator gene ( AIRE) gene. In this study, phenotype and AIRE gene analysis were performed in two patients with APS-Ⅰ. Methods Peripheral blood samples were collected from two patients with APS-Ⅰand their families. All exons of the AIRE gene and adjacent exon-intron sequences were amplified by PCR and subsequently sequenced. The silico analysis was performed to predict the possible impact of the mutations on the function of the AIRE protein. At the same time, 100 healthy controls were selected to confirm the mutation. Results Case 1 was a 31-year-old female who exhibited chronic mucocutaneous candidiasis, hypoparathyroidism, Addison' s disease, Hashimoto's thyroiditis, and premature ovarian failure. A homozygous c.483484insC mutation in exon 4 of AIRE gene was identified in this patient. Her parents, siblings and son were heterozygous for this mutation, which is consistent with the autosomal recessive inheritance pattern. Case 2 was a 34-year-old male who had mucocutaneous candidiasis, Addison' s disease, primary hypoparathyroidism, and Hashimoto' s thyroiditis. A compound heterozygous AIRE mutation (c.179A>G/C.463+2T>C) were identified in this patient. His father was heterozygous for c.179A>G mutation, and his mother was heterozygous for C.463+2T>C, which is consistent with autosomal recessive inheritance mode. The c.483484insC and c. 463+2T>C have been reported to be pathogenic. The c. 179A>G mutation was predicted pathogenic by SIFT and PolyPhen2 software, which was not detected in 100 healthy controls. It has not been reported in the HGDM database and is a novel mutation. Conclusion We identified a novel AIRE gene mutation ( c.179A>G) , which contributed to further understanding of the pathogenesis of APS-Ⅰ. The clinical variation and rarity of APS-Ⅰmakes the syndrome hard to recognize. Early recognition of symptoms and screening for AIRE mutation in patients with APS-Ⅰhas important clinical implications for the diagnosis and treatment.

A case of growth hormone deficiency combined with neurofibromatosis Type 1 and its gene analysis / 中南大学学报(医学版)

Neurofibromatosis Type 1 (NF1) is an autosomal dominant genetic disorder caused by NF1 gene mutations. Café au lait spots, neurofibromatosis, Lisch nodules, axillary freckling, dermal neurofibromas and skeletal dysplasia are the most common manifestations for this disease. A 11-year-old boy visited Third Xiangya Hospital, Central South University due to growth-retardation. He was eventually diagnosed as NF1 with growth hormone deficiency. A novel heterozygous splicing mutation c.6579+2 T>C (IVS 34+2 T>C) of NF1 gene was identified in the patient and his mother. Considering NF1 may present with short stature due to growth hormone deficiency, all children with short stature combined with café au lait spots should be screened for NF1, which may assist the clinical diagnosis and the genetic counseling.

Two cases of primary hypertrophic osteoarthropathy with SLCO2A1 gene mutations / 中南大学学报(医学版)

Two patients with primary hypertrophic osteoarthropathy (PHO) and their available healthy family members were studied.All exons of the SLCO2A1 and HPGD gene and adjacent exonintron sequences were amplified by PCR and subsequently sequenced.To assess the damaging effects of missense mutations in silico,the online database,PolyPhen-2 and SIFT were used.We identified two homozygous mutations in SLCO2A1 gene:one was c.1106G＞A (p.G369D) in exon 9,the other was c.611C＞T (p.S204L) in exon 4.No HPGD mutation was found in the affected individuals.The two mutation were predicted in silico by the bioinformatic tools.Our study further supports the role of mutations in the SLCO2A1 gene in the pathogenesis of PHO.Identification of the genotype in PHO may not only help the clinical diagnosis of PHO but also help the interpretation of genetic information for prenatal diagnosis and genetic counseling.

Foley catheter traction for hemorrhage after post-microchannel percutaneous nephrolithotomy / 中南大学学报(医学版)

OBJECTIVE@#To evaluate the safety and effect of foley catheter traction for hemorrhage after postmicrochannel percutaneous nephrolithotomy (mPCNL).@*METHODS@#Eighty-eight patients with upper urinary calculi were collected prospectively at the Department of Urology of Xiangya Hospital of Central South University from November 2010 to June 2011. The patients underwent mPCNL, and were divided into 2 groups randomly: 45 patients with 16F foley catheter but without traction served as the control group, and the other 43 patients with 16F foley catheter traction served as the experiment group. Blood loss was estimated by the mass of hemoglobin in the draining liquid and urine during postoperative duration through the HiCN. The blood loss and bleeding time were compared in the 2 groups, and analyzed by Wilcoxon rank sum test.@*RESULTS@#There was statistical difference in the average blood loss between the control group (13.830 g) and the experiment group (7.959 g, P<0 .001). The mean bleeding time was 4 and 3 days in the control group and the experiment group respectively.@*CONCLUSION@#Foley catheter traction for mPCNL can reduce the blood loss, suggesting that Foley catheter traction is safe, effective and feasible.