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Hereditary endocrine and metabolic diseases , caused by genetic factors, exhibit complex and diverse symptoms, including the possibility of concurrent sensorineural deafness. Currently, there is a limited clinical understanding of hereditary endocrine and metabolic diseases that manifest with deafness, the pathogenesis remains unclear,and there is a lack of effective diagnostic and treatment methods. This article summarizes the research progress of hereditary endocrine and metabolic diseases complicated with deafness from the pathogenesis, clinical phenotype, diagnosis and treatment. Understanding the current research progress and integrating genetic analysis into clinical practice are crucial for accurate diagnosis and treatment, evaluating clinical efficacy, and providing effective genetic counseling for these diseases.
Subject(s)
Humans , Deafness/genetics , Hearing Loss, Sensorineural/diagnosis , Phenotype , Metabolic Diseases/genetics , Genetic CounselingABSTRACT
Objective To investigate the safety,feasibility and clinical application effect of upper arm totally implantable venous access port (TIVAP) inserted by the combination of oncologists and nurses in patients with tumor.Methods A total of 34 patients,who needed long-term transfusion treatment,were included in this study with upper arm TIVAP from March 2017 and December 2017.There were 20 males and 14 females.The median age was 63 (35 ~ 83) years.Upper arm TIVAP was implanted by both doctors and nurses into the patients with tumor,and the TIVAP related success rate,complications and patients satisfaction were recorded.Results 34 patients all succeeded in TIVAP implantation with the operation success rate of 100%.The average operation time was about 40 minutes (30 to 60 minutes) from the disinfecting cloth to the end of the suture.The operations of all patients were successful.After the operation two patients died of cancer progression,one patient had soft tissue infection around capsular bag,None of the patients had other complications such as blocked infusion,catheter shift,port reversal,and so on,and the incidence of complication was 2.94% (1/34).Conclusions Upper arm TIVAP has the advantages of safe puncture,shorter operation time,few intra-operative and post-operative complications and higher feasibility for operation by both oncologist and nurse,which can supplement the limitations and deficiencies of the chest wall port and PICC in a certain extent,therefore is a good choice for clinical application.
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cleaning and disinfection.Results All 28 surveyed medical institutions had separate endoscope disinfection rooms, 89.29% of which had integrated endoscopic cleaning station,17.86% had automatic endoscope washer/disinfector;100% used multi-enzymatic detergent,chose the right disinfectant,monitored disinfectant concentration every day, and implemented standard disinfection time.But only 39.29% changed multi-enzymatic detergent for each endo-scope,cleaning and disinfection personnel in 78.57% of medical institutions wore personal protective equipment correctly.77 digestive endoscopes were detected,the qualified rate was 88.31%.Conclusion Cleaning and disin-fection management of digestive endoscope in secondary and above medical institutions in Suzhou City is generally standardized,there are still some problems in the manipulation procedures,relevant national regulations should be strictly complied with,efficacy of cleaning and disinfection of digestive endoscope should be further improved.
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Objective To understand the cleaning quality of dental handpieces in Suzhou City, analyze the relevant factors that influencing cleaning effect.Methods A cross-sectional study was performed with the proportional system sampling method, questionnaires were adopted to investigate the cleaning location, cleaning method and process of dental handpieces, the ATP fluorescence detection method was conducted to detect cleaning quality.Results In 10 administrative regions of this city, a total of 72 medical institutions were selected, 25 were public medical oral diagnosis and treatment institutions, 47 were private clinics.Cleaning effect of automatic handpiece cleaning machine was better than traditional manual cleaning (unqualified rate :3.95% vs 11.96%, P0.05).The quality of cleaning of handpieces could be improved if waiting time of cleaning ≤30 minutes, enzymes were used during cleaning, and purified water was used at the end rinse(all P<0.05);whether there was drying process and used lubricant, difference were both not significant.Conclusion Using automatic handpiece cleaning machine, cleaning personnel with adequate knowledge, cleaning waiting time ≤30 minutes, enzyme use during the cleaning process, and purified water use at the end rinse can improve the quality of cleaning of dental handpieces.
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Objective To explore the cleaning status and cleaning quality of dental handpieces in various types of medical institutions in Suzhou City.Methods On October 26-31, 2015, dental clinics in the whole city were sampled according to cross-sectional survey and proportional sampling method, the cleaning quality of dental handpieces in each clinic was detected by ATP bioluminescence assay.Results 72 medical institutions, 201 handpieces, 402 samples in 10 administrative regions of the city were sampled, 42 samples was unqualified, unqualified rate was 10.45%, unqualified rate of cleaning of dental handpiece surface was higher than waterline of dental handpiece(17.91% vs 2.99%, P<0.05).Cleaning quality of dental handpieces in different grades of medical institutions was different(P<0.05), tertiary medical institutions were all ualified, medical institutions without grade was 14.45%.According to the classification based on name of different medical institutions, cleaning quality of handpieces was statistically significant(P<0.05), cleaning efficacy of dental handpieces in department of stomatology of public hospitals was best(unqualified rate was 4.31%), while private dental clinics had the worst cleaning efficacy(unqualified rate was 13.81%).Conclusion Education and training of dental handpieces cleaning in the whole city should be strengthened, especially the management of cleaning of dental handpieces in low grade and private dental clinics.