Novel compound heterozygous variants in the LHX3 gene caused combined pituitary hormone deficiency: A case report

BACKGROUND Combined pituitary hormone deficiency 3(CPHD3;OMIM:221750)is caused by mutations within the LHX3 gene(OMIM:600577),which located on the subtelomeric region of chromosome 9 at band 9q34.3,has seven coding exons and six introns.LIM homeobox(LHX)3 protein is the key regulator of pituitary development in fetal life.CASE SUMMARY We have diagnosed and treate an 11-year-old boy with combined pituitary hormone deficiency(CPHD).The main clinical manifestations were pituitary hormone deficiency,hydrocele of the tunica vaginalis,pituitary dwarfism,gonadal dysplasia,micropenis,clonic convulsion,and mild facial dysmorphic features.We collected peripheral blood from the patient,the patient's older brother,as well as their parents,and sequenced them by using high-throughput whole-exosome sequencing,which was verified by Sanger sequencing.The results showed that there were two compound heterozygous variants of c.613G>C(p.V205L)and c.220T>C(p.C74R)in the LHX3 gene.c.613G>C(p.V205L)was inherited from his mother and c.220T>C(p.C74R)from his father.His brother also has both variants and symptoms.CONCLUSION This study reported ununreported genetic mutations of LHX3,and recorded the treatment process of the patients,providing data for the diagnosis and treatment of CPHD.

Clinical study on depression differentiated as yang deficiency treated with the combined therapy of ginger-isolated moxibustion and western medicine

Objective To compare the differences in the clinical efficacy on depression differentiated as yang deficiency between the combined therapy of ginger isolated moxibustion and escitalopram and the simple application escitalopram.Methods Eighty patients of depression differentiated as yang deficiency were randomized into an observa-

Clinical treatment of myasthenia gravis with deficiency of spleen and kidney based on combination of disease with syndrome theory

OBJECTIVE: To study the use of Jianjining in the treatment of myasthenia gravis (MG) patients with a deficiency of both spleen and kidney via the theory on the combination of disease with syndrome. METHODS: Sixty MG patients with a deficiency of both spleen and kidney were randomly divided into an treatment group (n=30) treated with Jianjining granules and Western Medicine (prednisone or pyridostigmine bromide) and a control group (n= 30) treated with Jianjining granules. The dosage of the three drugs was reduced over the course of treatment. After 3 and 6 months of treatment, the curative effect was evaluated with the muscle weakness severity scale (MWSS). RESULTS: The MWSS score after treatment declined significantly in both groups. The score in the treatment group was much lower than that in thecontrol group (P<0.05). The total effective rate was 63.33% (19/30) in the treatment group and 36.67% (11/30) in the control group after 3 months of treatment, and 80.00% (24/30) and 50.00% (15/30), respectively, after 6 months of treatment. The obvious and total effective rates in the treatment group were much higher than those in the control group (P<0.05). After 6 months of treatment, there were no obvious differences (P>0.05) in the obvious and effective rates between the 2 groups. However, the total effective rate in the treatment group was much higher than that in the control group (P<0.01). CONCLUSION: Using the theory on the combination of disease with syndrome, we found that the curative effect of Jianjining and Western Medicine on MG patients with deficiency of both spleen and kidney is worth further exploration.

Generation of ApoE deficient dogs via combination of embryo injection of CRISPR/Cas9 with somatic cell nuclear transfer

Atherosclerotic cardiovascular disease is the leading cause of death in the world which is resulted from complex interactions among multiple genetic and environmental factors （WHO）. Athero- sclerosis is a chronic inflammatory disease characterized by accumulation of lipids in the arterial wall （Gofman and Lindgren, 1950）. Tremendous clinical and experimental efforts have been made to reveal the pathogenesis of the disease. Nevertheless, the mechanism of atherosclerosis is still unclear. A suitable animal model to study metabolic disorders and subsequent atherosclerosis is a necessity. The traditional method by feeding high fat diet to establish animal models of atherosclerosis disease is time- consuming and laborious, and in many circumstances, the pheno- types are not consistent among the individual models.