Objective To analyze the clinic features and hereditary characteristics of three subtypes of porokeratosis, namely disseminated superficial actinic porokeratosis (DSAP), porokeratosis palmaris et plantaris disseminata(PPPD) and porokeratosis of Mibelli (PM) in five pedigrees with porokeratosis. Meth-ods After clinical and pathological diagnosis, every living family member of the five pedigrees with poro-kerotosis was undergoing medical examination and genetics analysis. These five pedigrees consisted of three DSAP pedigrees (totally 266 family members including 100 patients), and one PPPD pedigree (composing of 90 members including 26 patients), one PM pedigree (cornposing of 34 members including 17 patients). Results While diagnosed as porokeratosis, the five pedigrees included three distinctive variants, each with its own clinic characteristics. The lesions was initiated on the face in DSAP subtype, on palms and the flex-ion side of fingers in PPPD subtype; or involving sun-covered areas in PM subtype. Of the three subtypes of porokeratosis, the onset age in DSAP subtype was earliest, usually about 8-20 years old, about 14-20 years old in PPPD subtype, but PM subtype about 20-30 years old. Conclusions As a group of autosomal dominant genodermatosis, porokeratosis presented various clinic variants with different genetic basis. And, different subtype could be seen in a same patient or same pedigree.

Objective Through description of the clinical,electrophysiological,pathological and gene sequencing characteristics of a family diagnosed as paramyotonia congenita and hypokalemic periodic paralysis to broaden the understanding of skeletal muscle channel disease and provide the reference for clinical diagnosis.Methods The clinical manifestation,electromyography,muscle pathology and gene sequencing of a family diagnosed as paramyotonia congenita and hypokalemic periodic paralysis in the First Hospital of Shanxi Medical University in October 2017 were collected.Results The proband represented myotonia and episodic muscle weakness,and the manifestations of different patients of the family were varied,including myotonia,episodic muscle weakness or myotonia and episodic muscle weakness.The electromyography of the proband showed myotonic potential,and the compound muscle action potential decreased by 36％ in 40 minutes after exercise in the long exercise test in cold environment (11 ℃).The gene sequencing showed α-subunit type Ⅳ of voltage gated sodium channel (SCN4A) gene p.R1448H mutation.Conclusions The proband presented with paramyotonia congenita and hypokalemic periodic paralysis.Family clinical manifestations suggested phenotypic heterogeneity.The long exercise text in cold environment (11 ℃) confirmed the diagnosis of the proband as paramyotonia congenita and hypokalemic periodic paralysis.Family gene sequencing showed that the mutation of p.R1448H in SCN4A gene was the pathogenic gene mutation site of paramyotonia congenita and hypokalemic periodic paralysis.

Objective To investigate the iodine intake level and the prevalence of thyroid nodules in Harbin City,and to study the correlation between the concentration of urinary iodine and the prevalence of thyroid nodules.Methods In Harbin,18 communities were randomly selected and specimens were collected from fasting morning urine from 2015 to 2017.The urine iodine concentration (UIC) was detected by arsenic cerium catalytic spectrophotometry,and the thyroid nodule was examined by B ultrasound.Results A total of 2 552 residents aged (45.79 ± 12.06) years old agreed to participate in the study,including 371 males and 2 181 females.The median UIC in all participants was 159.8 μg/L,there was a significant difference in urine iodine frequency distribution among age groups (x2 =40.097,P ＜ 0.01).Furthermore,the median UIC in male was 166.6 μg/L,and in female was 156.2 μg/L.There was a significant difference in UICs between male and female (U =2.122,P ＜ 0.05).The prevalence of total thyroid nodules in all participants was 48.75％ (1 244/2 552),and the standardized rate was 40.55％.Significant difference in the detection rate of thyroid nodules was observed among age groups (x2 =114.922,P ＜ 0.01),and there was a positive and significant correlation between the detection rate of thyroid nodules and increasing age (xtrand =111.746,P ＜ 0.01).Furthermore,in male,41.24％ (153/371) had thyroid nodules,with standardized prevalence rate of 41.13％,and in female,50.02％ (1 091/2 181) had thyroid nodules,with standardized prevalence rate of 49.20％.Likewise,there was a significant difference in the detection rate of thyroid nodules between male and female(x2 =9.790,P ＜ 0.01).The detection rate of thyroid nodules in the iodine deficient population (urinary iodine was 0-＜ 100 μg/L) was 55.58％ (244/439),and the incidence of thyroid nodules in the iodine adequate or optimal population (urinary iodine was 100-＜ 200 μg/L) was 46.68％ (591/1 266).Conclusions The total iodine level of the population in Harbin City of Heilongjiang Province is at adequate level.The detection rate of thyroid nodules is high and it is increased with age.The detection rate of thyroid nodules is higher in female than male.Regular detection of urine iodine and adjusting iodine nutrition will help prevent thyroid nodules.

BACKGROUND: Mis Seven implant has become more and more popular in oral implant restoration, and the clinical application in dentate-deficient patients remains to be studied. OBJECTIVE: To explore the short-term effects of the Mis Seven implant system on fixed restorations in dentition loss. METHODS: Nineteen patients undergoing fixed dental prostheses with the Mis Seven system due to dentition loss at the Department of Implants of the Stomatological Hospital of Guangzhou Medical University between April 2015 and December 2017 were included. Three patients had missing maxillary and maxillary dentition and unilateral maxillary teeth. Six patients were loss of maxillary dentition, and there were 10 cases of unilateral mandibular dentition missing. The total dental implants were 134. All cases were implanted and fixed for one stage. Clinical examination, alveolar bone and inter-implant image performance and post-load repair effect at 6, 12 and 24 months of follow-up were used as evaluation indicators. RESULTS AND CONCLUSION: (1) In 134 implants, failure was in 2 cases due to surrounding tissue infection. The success rate of before implant restoration was 98.51％, and the success rate after repair was 100％. (2) The stability of dentition of 19 patients was good, showing good occlusion. No mechanical complications or biological complications occurred. The stability of the restoration was 100％. (3) The vertical absorption of bone tissue around all implants was less than 0.2 mm at 6, 12, 24 months after repair, suggesting that the implant has no obvious edge bone resorption. The gingival tissues around all implants were healthy, and no unhealed inflammation or hyperkeratosis appeared. (4) These results imply that the Mis Seven system in the dentition defect fixation exhibits good short-term clinical results.