Mutation update and long-term outcome after treatment with active vitamin D3 in Chinese patients with pseudovitamin D-deficiency rickets (PDDR)

2018 ◽  
Vol 30 (2) ◽  
pp. 481-489 ◽  
Author(s):  
Y. Chi ◽  
J. Sun ◽  
L. Pang ◽  
R. Jiajue ◽  
Y. Jiang ◽  
...  
Keyword(s):  
Vitamin D3 ◽  
Chinese Patients ◽  
Active Vitamin ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Deficiency Rickets

scholarly journals Polymorphism of the complement 5 gene is associated with large artery atherosclerosis stroke in Chinese patients

2016 ◽  
Vol 74 (11) ◽  
pp. 881-886 ◽  
Author(s):  
Hui Wu ◽  
Yingfeng Weng ◽  
Lan Zheng ◽  
Huanyin Li ◽  
Qi Gong ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Chinese Patients ◽  
Large Artery ◽  
Nucleotide Polymorphism ◽  
Term Outcome ◽  
Single Nucleotide ◽  
Long Term Outcome ◽  
Risk Predictors ◽  
The Complement System

ABSTRACT The complement system has been confirmed to play an increasingly important role in ischemic stroke (IS). This study aimed to determine whether the single-nucleotide polymorphism of the complement 5 (C5) gene independently influences the occurrence, severity, and long-term outcome of IS in Chinese patients. Methods C5 rs17611 genetic variants were investigated in 494 IS patients and 330 control individuals .Ischemic stroke was classified into subtypes and patients were assessed 90 days post-stroke with the modified Rankin Scale to determine stroke outcome. Results The presence of C5 polymorphism was associated with the incidence of large artery atherosclerosis (LAA)-subtype IS (n =2 00; p = 0.031), which even persisted after adjustment for covariates (OR = 1.518; 95%CI = 1.093–2.018; p = 0.013). However, no association was found between genotypes and the severity and outcome of stroke (p = 0.978; p = 0.296). Conclusions The C5 polymorphism might contribute to the risk of LAA-subtype IS independently of other known risk predictors.

scholarly journals Clinical Characteristics and Long-Term Outcome of Headaches Associated With Moyamoya Disease in the Chinese Population—A Cohort Study

2020 ◽  
Vol 11 ◽  
Author(s):  
Bin Gao ◽  
Kaijiang Kang ◽  
Jia Zhang ◽  
Dong Zhang ◽  
Xingquan Zhao
Keyword(s):  
Conservative Treatment ◽  
Moyamoya Disease ◽  
Chinese Population ◽  
Chinese Patients ◽  
Surgical Revascularization ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Long Term Follow Up

Background: Headache associated with Moyamoya disease (HAMD) in the Chinese population is not well-described. The long-term outcome of surgical revascularization and natural course of HAMD has not been disclosed either.Methods: A headache screening questionnaire in China based on the ICHD2 and a face-to-face interview performed by an experienced neurologist were used to investigate headache characteristics and frequency and pain intensity in the 3 months before admission, and a telephone interview was used for the follow-up of a large cohort of 119 Chinese patients with HAMD.Results: Headache intensity was rated as scores of 5.9 ± 2.0 on a visual analog scale (VAS), ranging from 0 to 10, in the 3 months before admission. Forty-six patients (38.6%) were categorized as having migraine-like headaches, 29 patients (24.3%) were categorized as having tension type-like headaches, and 44 patients (36.9%) had a combination of both. The majority of patients had migraine-like headaches (n = 34, 73.9%) with a migrainous aura. Both the frequency and intensity of the headache improved significantly in patients treated with surgical revascularization (n = 96, 80.7%) or the conservative treatment (n = 23, 19.3%) in a long-term follow-up.Conclusion: HAMD frequently presented with a migraine-like headache (75.5% in total). A tension type headache was present in 60.9% of patients. The symptom of dizziness is common in patients with HAMD (60.5%), and 19 of them (26.4%) met the diagnose of vestibular migraine. Both intensity and frequency of HAMD show a trend of spontaneous remission in a long-term follow-up, and there is no difference in long-term outcomes of HAMD between surgical revascularization and conservative treatment, which indicates that the effect of bypass intervention on HAMD may be a placebo effect.

scholarly journals Short- and Long-Term Outcome of Patients with Pseudo-Vitamin D Deficiency Rickets Treated with Calcitriol

2011 ◽  
Vol 96 (1) ◽  
pp. 82-89 ◽  
Author(s):  
T. Edouard ◽  
N. Alos ◽  
G. Chabot ◽  
P. Roughley ◽  
F. H. Glorieux ◽  
...  
Keyword(s):  
Vitamin D ◽  
Vitamin D Deficiency ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Short And Long Term ◽  
Deficiency Rickets

Tarsal-Fixation With Aponeurotic Flap Linkage in Blepharoplasty: Bridge Technique

2020 ◽  
Vol 40 (12) ◽  
pp. NP648-NP654 ◽  
Author(s):  
Rui Jin ◽  
Yirui Shen ◽  
Wenjie Yu ◽  
Ying Xia ◽  
Zhaoqi Yuan ◽  
...  
Keyword(s):  
Relapse Rate ◽  
Cosmetic Surgery ◽  
Chinese Patients ◽  
Level Of Evidence ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Asian Populations ◽  
The Aesthetic ◽  
Double Eyelid

Abstract Background Double eyelid blepharoplasty is the most popular cosmetic surgery among Asian populations. Although various surgical procedures have been reported, certain complications still arise, including asymmetry or the disappearance of the double eyelid crease, an unnatural double eyelid crease curve, and distinct scars. Objectives The aim of this study was to describe a new blepharoplasty technique intended to reduce the various complications and create dynamic, natural-looking double eyelids. Methods From September 2018 to June 2019, the new technique was performed on 92 Chinese patients. The core of our technique was to construct a reliable motion transmitter, the orbital septum-levator aponeurosis flap, which was sutured to the tarsus. The outcomes were assessed 6 months after the surgery by reviewing medical records and photographs to assess the aesthetic outcomes, the relapse rate, and the incidence of complications. Results In the aesthetic outcome assessment, 86 patients were graded as good and 4 were graded as fair; of the latter, 2 had uneven scars and 2 showed showed a slight asymmetry of the double eyelid curve in length or width. Two patients were graded as poor because of the disappearance of the double eyelid crease. The relapse rate was 2.2%. Two patients had temporary hematoma. Six patients had lagophthalmos that subsided within 30 days. No cases of infection or ptosis were observed. Conclusions The bridge technique is an effective method for creating dynamic, natural-looking double eyelids. However, the long-term outcome of this new surgical approach requires further study. Level of Evidence: 4

scholarly journals Long-term outcome of the survivors of infantile hypercalcaemia with CYP24A1 and SLC34A1 mutations

2020 ◽  
Author(s):  
Agnieszka Janiec ◽  
Paulina Halat-Wolska ◽  
Łukasz Obrycki ◽  
Elżbieta Ciara ◽  
Marek Wójcik ◽  
...  
Keyword(s):  
Renal Transplantation ◽  
Vitamin D3 ◽  
Risk Level ◽  
Renal Ultrasound ◽  
Active Metabolites ◽  
Term Outcome ◽  
Long Term Outcome ◽  
Metabolism Disorder ◽  
Biallelic Mutations

Abstract Background Infantile hypercalcaemia (IH) is a vitamin D3 metabolism disorder. The molecular basis for IH is biallelic mutations in the CYP24A1 or SLC34A1 gene. These changes lead to catabolism disorders (CYP24A1 mutations) or excessive generation of 1,25-dihydroxyvitamin D3 [1,25(OH)2D3] (SLC34A1 mutations). The incidence rate of IH in children and the risk level for developing end-stage renal disease (ESRD) are still unknown. The aim of this study was to analyse the long-term outcome of adolescents and young adults who suffered from IH in infancy. Design Forty-two children (23 girls; average age 10.7 ± 6.3 years) and 26 adults (14 women; average age 24.2 ± 4.4 years) with a personal history of hypercalcaemia with elevated 1,25(OH)2D3 levels were included in the analysis. In all patients, a genetic analysis of possible IH mutations was conducted, as well as laboratory tests and renal ultrasonography. Results IH was confirmed in 20 studied patients (10 females). CYP24A1 mutations were found in 16 patients (8 females) and SLC34A1 in 4 patients (2 females). The long-term outcome was assessed in 18 patients with an average age of 23.8 years (age range 2–34). The average glomerular filtration rate (GFR) was 72 mL/min/1.73 m2 (range 15–105). Two patients with a CYP24A1 mutation developed ESRD and underwent renal transplantation. A GFR <90 mL/min/1.73 m2 was found in 14 patients (77%), whereas a GFR <60 mL/min/1.73 m2 was seen in 5 patients (28%), including 2 adults after renal transplantation. Three of 18 patients still had serum calcium levels >2.6 mmol/L. A renal ultrasound revealed nephrocalcinosis in 16 of 18 (88%) patients, however, mild hypercalciuria was detected in only one subject. Conclusions Subjects who suffered from IH have a greater risk of progressive chronic kidney disease and nephrocalcinosis. This indicates that all survivors of IH should be closely monitored, with early implementation of preventive measures, e.g. inhibition of active metabolites of vitamin D3 synthesis.

Long-term outcome of Chinese patients with membranous lupus nephropathy

Lupus ◽  
2008 ◽  
Vol 17 (1) ◽  
pp. 56-61 ◽  
Author(s):  
H.O. Sun ◽  
W.X. Hu ◽  
H.L. Xie ◽  
H.T. Zhang ◽  
H.P. Chen ◽  
...  
Keyword(s):  
Chinese Patients ◽  
Term Outcome ◽  
Long Term Outcome
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