Confounding Effect in Clinical Research of Otolaryngology and Its Control

Confounding effect is a critical issue in clinical research of otolaryngology because it can distort the research's conclusion. In this review, we introduce the definition of confounding effect, the methods of verifying and controlling the effect. Confounding effect can be prevented by research's design, and adjusted by data analysis. Clinicians would be aware and cautious about confounding effect in their research. They would be able to set up a research's design in which appropriate methods have been applied to prevent this effect.They would know how to adjust confounding effect after data collection. It is important to remember that sometimes it is impossible to eliminate confounding effect completely, and statistical method is not a master key. Solid research knowledge and critical thinking of our brain are the most important in controlling confounding effect.

Genetic Effects on Sensorineural Hearing Loss and Evidence-based Treatment for Sensorineural Hearing Loss

In this article,the mechanism of inheritance behind inherited hearing loss and genetic susceptibilityin noise-induced hearing loss are reviewed.Conventional treatments for sensorineural hearing loss(SNHL),i.e.hearing aid and cochlear implant,are effective for some cases,but not without limitations.For example,they provide little benefit for patients of profound SNHL or neural hearing loss,especially when the hearing loss is in poor dynamic range and with low frequency resolution.We emphasize the most recent evidence-based treatment in this field,which includes gene therapy and allotransplantation of stem cells.Their promising results have shown that they might be options of treatment for profound SNHL and neural hearing loss.Although some treatments are still at the experimental stage,it is helpful to be aware of the novel therapies and endeavour to explore the feasibility of their clinical application.

Myotonic dystrophy type 1 presenting with dyspnea:A case report

BACKGROUND Myotonic dystrophy type 1(DM1)is a genetic neuromuscular disease involving multiple systems,especially the cardiopulmonary system.The clinical phenotype of DM1 patients is highly variable,which limits early diagnosis and treatment.In the present study,we reported a 35-year-old female DM1 patient with dyspnea as the primary onset clinical manifestation,analyzed her family's medical history,and reviewed related literature.CASE SUMMARY A 35-year-old woman was admitted to the hospital with dyspnea of 1 mo duration,and sleep apnea for 3 d.Her respiratory pattern and effort were normal,but limb muscle tension was low.Investigation into the patient's medical history revealed that she might have hereditary neuromuscular disease.Electromyography showed that her myotonia potentials were visible in the resting state of the examined muscles,with decreased motor unit potential time limit and amplitude.Genetic testing for DM1 revealed that the cytosine-thymine-guanine(CTG)repeat number of the DMPK gene exceeded 50,while cytosine-CTG expansion in intron 1 of ZNF9 gene was<30 repeats.The patient was diagnosed with DM1.CONCLUSION DM1 is a genetic neuromuscular disease involving multiple systems,and the clinical phenotype in DM1 is extremely variable.Some patients with DM1 may be presented at the respiratory department because of dyspnea,which should be cautioned by the pulmonologists.There may be no obvious or specific symptoms in the early stage of disease,and clinicians should improve their understanding of DM1 and make an early diagnosis,which will improve patients’quality of life.

Novel compound heterozygous variants in the TAF6 gene in a patient with Alazami-Yuan syndrome:A case report

BACKGROUND This case report describes a novel genotypic and phenotypic presentation of Alazami-Yuan syndrome,and contributes to the current knowledge on the condition.CASE SUMMARY We report an 11-year-old boy with Alazami-Yuan syndrome.The main clinical manifestations were rapid development of puberty,typical facial features of Cornelia de Lange syndrome,and normal intelligence.Peripheral blood DNA samples obtained from the patient and his parents were sequenced using highthroughput whole-exosome sequencing,which was verified by Sanger sequencing.The results showed that there was a compound heterozygous mutation of c.1052delT and c.76A>T in the TATA-Box Binding Protein Associated Factor 6(TAF6)gene.The mutation of c.1052delT was from his mother and the mutation of c.76A>T was from his father.CONCLUSION This study extends the mutation spectrum of the TAF6 gene,and provides a molecular basis for the etiological diagnosis of Alazami-Yuan syndrome and genetic consultation for the family.

Efficacy and Safety of Domestic Leuprorelin in Girls with Idiopathic Central Precocious Puberty： A Multicenter,Randomized, Parallel, Controlled Trial

Background：In central precocious puberty （CPP）,the pulse secretion and release ofgonadotropin-releasing hormone （GnRH） are increased due to early activation of the hypothalamic-pituitary-gonadal axis,resulting in developmental abnormalities with gonadal development and appearance of secondary sexual characteristics.The CPP without organic disease is known as idiopathic CPP （ICPP）.The objective of the study was to evaluate the clinical efficacy and safety of domestic leuprorelin （GnRH analog） in girls with ICPP.Methods：A total of 236 girls with ICPP diagnosed from April 2012 to January 2014 were selected and were randomized into two groups.One hundred fifty-seven girls in the test group were treated with domestic leuprorelin acetate,79 girls in the control group were treated with imported leuprorelin acetate.They all were treated and observed for 6 months.After 6-month treatment,the percentage of children with peak luteinizing hormone （LH） ≤3.3 U/L,the percentage of children with peak LH/peak follicle stimulating hormone （FSH） ratio 〈0.6,the improvements of secondary sexual characteristics,gonadal development and sex hormone levels,the change of growth rate of bone age （BA） and growth velocity,and drug adverse effects between two groups were compared.Results：After the treatment,the percentage of children with a suppressed LH response to GnRH,defined as a peak LH ≤3.3 U/L,at 6 months in test and control groups were 96.80% and 96.20%,respectively,and the percentage of children with peak LH/FSH ratio ≤0.6 at 6 months in test and control groups were 93.60% and 93.70%,respectively.The sizes of breast,uterus and ovary of children and the levels of estradiol （E2） were significantly reduced,and the growth rate of BA was also reduced.All the differences between pre-and post-treatment in each group were statistically significant （P 〈 0.05）,but the differences of the parameters between two groups were not significant （P 〉 0.05）.Conclusions：Domestic leuprorelin is effective and safe in the treatment of Chinese girls with ICPP.Its effectiveness and safety are comparable with imported leuprorelin.

Pediatric dysphagia overview:best practice recommendation study by multidisciplinary experts

Background Currently,there is no comprehensive and multidisciplinary recommendation study covering all aspects of pediatric dysphagia(PD).This study aimed to generate PD management recommendations with methods that can be used in clinical practice to fill this gap in our country and in the world,from the perspective of experienced multidisciplinary experts.Methods This recommendation paper was generated by a multidisciplinary team,using the seven-step process and a three-round modified Delphi survey via e-mail.First,ten open-ended questions were created,and then detailed recommendations including management,diagnosis,treatment,and follow-up were created with the answers from these questions.Each recommendation item was voted on by the experts as overall consensus(strong recommendation),approaching consensus(weak recommendation)and divergent consensus(not recommended).Results In the 1st Delphi round,a questionnaire of 414 items was prepared based on the experts’responses to ten open-ended questions.In the 2nd Delphi round,59.2%of these items were accepted as pre-recommendation.In the 3rd Delphi round,62.6%of 246 items were accepted for inclusion in the proposals.The final version recommendations consisted of 154 items.Conclusions This study includes comprehensive and detailed answers for every problem that could be posed in clinical practice for the management of PD,and recommendations are for all pediatric patients with both oropharyngeal and esophageal dysphagia.