Objective To investigate the effect of telephone call follow-up on compliance with opening-mouth exercises among nasopharyngeal carcinoma(NPC)patients with radiotherapy-induced difficulty in opening mouth.Methods Sixty four nasopharyngeal carcinoma patients undergoing radiotherapy were randomized into control group(n=31)and observation group(n=31).The former group was given health education and instructions for functional exercises of opening mouth at discharge and regular return visits after discharge,and the observation group received regular telephone call follow-ups by an appointed nurse besides the same treatment as in the control group.The two groups were compared in regard to the compliance with the exercises of opening mouth and the incidences of difficulties in opening mouth at the first and second years after discharge. Results The compliance of the observation group was significantly higher that in the control group(P<0.01).The incidences of difficulties in opening mouth in the observation group were significantly smaller than that in those of the control at the first and second years after discharge(P<0.01). Conclusion Telephone call follow-ups are effective in the improvement of compliance of functional exercises in NPC patients with radiotherapy-induced difficulty in opening mouth,the reduction of the incidence of mouth-opening problems and the improvement of their quality of life.

Objective:To investigate the clinical phenotype and genetic characteristics of patients with Fabry disease caused by a GLA variant, IVS4+919G>A.Methods:It was a prospective study. Fabry disease screening was conducted among high-risk population in Ninghai from October 2021 to August 2023. Those children with decreased α-galactosidase enzyme activity<2.40 μmol/(L·h) or elavated Lyso-GL-3 level>1.10 μg/L in dried blood spot (DBS) method underwent GLA genetic testing for diagnosis confirmation. Meanwhile, family screening was carried out. A proband and his family members diagnosed with Fabry disease were research subjects. The clinical and genetic characteristics of patients with Fabry disease caused by the GLA variant (IVS4+919G>A) were analyzed.Results:The female proband aged 9.8 years with pain in both lower limbs as the initial symptom was found to have a heterozygous GLA variant IVS4+919G>A among 102 patients. In family screening, there were 4 family members (proband's father, elder sister, elder male cousin and elder female cousin) with Fabry disease and a family member (proband's fifth aunt) with a GLA variant. Among these 4 diagnosed family members, the elder male cousin of the proband, a boy aged 13.2 years had a heterozygous GLA variant, IVS4+919G>A with intermittent pain in both lower limbs as the initial symptom. The proband′s father had knee joint pain. The proband′s elder sister had decreased vision and his elder female cousin had no obvious symptoms. The proband′s fifth aunt with a GLA variant had decreased vision.Conclusions:High-risk screening in children and family screening are helpful for early diagnosis and treatment of Fabry disease. Neuropathic pain may be a early symptom in children with Fabry disease caused by the GLA variant, IVS4+919G>A.