Three cases of cerebraltendinous xanthomatosis caused by compound heterozygous mutation of CYP27A1 gene / 中华神经科杂志

Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive genetic disease caused by mutation of CYP27A1 gene. This article reported three cases with clinical phenotypes of CTX and CYP27A1 gene mutation and analyzed the pedigree with a literature review. All the three CTX cases had c.379C>T (p.Arg127Trp) missense mutation on exon 2 of CYP27A1 gene. They all had compound heterozygous mutation and two cases had new type of exon and intron compound mutation. This article enriched the types of CYP27A1 gene mutations in CTX patients. The primers of CYP27A1 gene should also cover more gene sequences including intron regions.

Frontotemporal dementia with ANXA11 gene mutation: a case report and literature review / 中华神经科杂志

Objective:To report a case with frontotemporal dementia (FTD) characterized by involuntary laughter.Methods:The clinical manifestations and imaging characteristics of a patient diagnosed as FTD was analyzed. Then the results of cerebrospinal fluid, positron emission tomography-computed tomography (PET-CT) and single-photon emission computed tomography examinations were collected. Blood samples were tested for related genes of FTD.Results:The patient is a 66 years old woman with insidious onset and progressing symptoms and she was mainly manifested as laughing out loud involuntarily when looking at others, childishness, stubbornness, loss of interest, irritability and other personal changes. Mild motor and language disorders were also manifested as moving slowly and speaking unclearly. The magnetic resonance imaging showed the atrophy of bilateral frontal, temporal lobe and bilateral hippocampal while the image of PET-CT showed the metabolism was reduced in different degrees. Eventually, behavioural variant of FTD was diagnosed. The result of ANXA11 gene sequencing revealed the mutation of c.107C>G(p.P36R).Conclusions:This is the first case in which a heterozygous mutation of ANXA11 gene, which is related to amyotrophic lateral sclerosis (ALS), is found in simple FTD patient, suggesting that ANXA11 gene may play an important role in the pathogenesis of FTD. This further supports the theory that ALS and FTD are spectrum disorders.

Relationship between admission blood glucose and in-hospital adverse events of elderly patients with non-ST-segment elevation myocardial infarction combined with multi-organ dysfunction in emergency department / 中国综合临床

Objective To investigate the relationship between admission blood glucose and in-hospital adverse events of elderly patients with non-ST-segment elevation myocardial infarction(NSTEMI) combined with multi-organ dysfunction in emergency department,and to assess the prognostic value.Methods Fifty-one geriatric patients with NSTEMI combined with multi-organ dysfunction were selected and divided into the experimental group (26 cases) and control group (25 cases),depending on whether they had adverse events in hospital.After the propensity score matching was used to reduce confounding effects,the difference in admission blood glucose between the two groups was compared.According to the ROC curve,the predictive value of immediate admission blood glucose to the incidence of adverse events during hospitalization was detected.Results After propensity score matching,admission blood glucose of the experimental group ((10.35±4.06) mmol/L) was higher than that of the control group ((7.05±2.45) mmol/L),and this difference was statistically significant (t=2.869,P<0.01).The area under the ROC curve for adverse events during hospitalization was 0.758 (P<0.01),and it may reach the best prognostic value when we choose 8.025mmol/L as the critical value.Under this condition,the sensitivity was 0.765 and specificity was 0.765.Conclusion For geriatric patients with NSTEMI combined with multi-organ dysfunction in emergency department,admission blood glucose is a risk factor for in-hospital adverse event,and the risk is high when admission blood glucose is over 8.025mmol/L.

Plastic surgery of neurofibroma / 中华医学美学美容杂志

Objective To study the reconstructive treatment of the different types of neurofibroma and neurofibromatosis in different locations. Methods 37 patients with neurobibroma or neurofibromatosis were reviewed, including 8 cases with simple suture after excision, 9 cases with skin grafting in situ, 12 cases with skin flap grafting. The main points of the treating methods for different types of neurofibroma and neurofibromatosis were discussed, and the chief clinical manifestations, therapeutic principle and notices of the operation were then summarized.Results These 37 patients, including 25 cases of neurofibroma, 11 cases of neurofibromatosis typeⅠ and 1 case of neurofibromatosis type Ⅱ, were satisfied with the results after reconstructive operation. Conclusion The methods of reconstructive operation of neurofibroma and neurofibromatosis, such as simple suture after excision, skin grafting in situ, skin flap grafting, the use of skin soft tissue expansion, microskin grafting and so on, must be selected according to the different type and location of the neurofibroma and neurofibromatosis. The reconstructive operation must guarantee the best recovery of the visage and the function on the basis of the most degree of tumor excision.