[Research on the variation in distortion product otoacoustic emissions in patients with auditory neuropathy during the natural course of the disease].

Objective: The purpose of this study was to investigate the characteristics of distortion product otoacoustic emissions (DPOAE) in patients with auditory neuropathy (AN). The factors affecting DPOAE elicitation rate of each frequency, elicitation rate of each ear and change rate of first and last diagnosis in the natural course were analyzed. Methods: The sample was obtained from the Multicenter Study on Clinical Diagnosis and Intervention of AN (registration number: ChiCTR2100050125), and the diagnostic criteria for AN were based on the Chinese Clinical Practice Guidelines of Auditory Neuropathy (version 2022). Patients with bilateral AN who underwent 2 or more DPOAE tests were screened and divided into infant groups (≤3 years old) and non-infant groups (>3 years old) according to the age of detection, and the trend of DPOAE elicitation rate of each frequency, elicitation rate of each ear and change rate in the natural course of disease were analyzed, in order to explore the relevant influencing factors. Results: A total of 165 patients (330 ears) with AN were included in the study. The overall DPOAE elicitation rate per ear was 77.0%±29.4% at the initial diagnosis and 65.1%±35.2% at the final diagnosis, with a reduction observed in the elicitation rate of 171 ears (51.82%). In the infant group, there were 49 cases (98 ears), including 28 males and 21 females, whose found age ranged from 0 to 3 years old, with a median age of 0.7 years. DPOAE elicitation rate per ear was 57.9%±35.5% in the initial diagnosis, and 32.4%±32.1% in the final diagnosis, with a reduction observed in the elicitation rate of 69 ears (70.41%). In the non-infant group, there were 116 cases (232 ears), including 59 males and 57 females, ranging in found age from 3.9 to 40 years old, with a median age of 14 years old. DPOAE elicitation rate per ear was 84.6%±23.4% in the initial diagnosis, and 78.3%±27.1% in the final diagnosis, with a reduction observed in the elicitation rate of 102 ears (43.97%). Age was found to be correlated with DPOAE changes by multicategorical unordered logistic regression analysis (B=-0.224, OR=0.799, P<0.001). Conclusions: The elicitation rate of DPOAE in AN patients decreases or even disappears with increasing disease duration; The rate of DPOAE extraction is found to be lower in infant patients with auditory neuropathy (AN) compared to non-infant AN patients. Additionally, it is observed that the decrease in DPOAE extraction rate is more pronounced in infant AN patients as the disease progressed, as compared to non-infant AN patients. DPOAE and cochlear microphonic potentials should be fully combined for accurate diagnosis, and regular follow-up should be conducted to understand the natural course of the disease and give personalized guidance and assistance.

[The updates of the ACMG variant interpretation guidelines affect the pathogenicity determination of OTOF gene variations in patients with auditory neuropathy].

Objective: To compare the differences between the variation interpretation standards and guidelines issued by the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) in 2015 (The 2015ACMG/AMP guideline) and the Deafness Specialist Group of the Clinical Genome Resource (ClinGen) in 2018 for hereditary hearing loss (Healing loss, HL) issued the expert specification of the variation interpretation guide (The 2018 HL-EP guideline) in evaluating the pathogenicity of OTOF gene variation in patients with auditory neuropathy. Methods: Thirty-eight auditory neuropathy patients with OTOF gene variant were selected as the study subjects (23 males and 15 females, aged 0.3-25.9 years). Using whole-genome sequencing, whole exome sequencing or target region sequencing (Panel) combined with Sanger sequencing, 38 cases were found to carry more than two OTOF mutation sites. A total of 59 candidate variants were independently interpreted based on the 2015 ACMG/AMP guideline and 2018 HL-EP guideline. Compared with the judgment results in 2015 ACMG/AMP guideline, the variants interpreted as lower pathogenic classifications in the 2018 HL-EP guideline were defined as downgraded variants, and the variants regarded as higher pathogenic classifications were defined as upgraded variants. Statistical analysis was conducted using SPSS 20.0. Results: The concordance rate of variant classification between the guidelines was 72.9%(43/59). The 13.6%(8/59) of variants were upgraded and 13.6% (8/59) of variants downgraded in the classifications of the 2018 HL-EP guideline. A couple of rules saw significant differences between the guidelines (PVS1, PM3, PP2, PP3 and PP5). The distribution of pathogenicity of splicing mutation was statistically different (P=0.013). Conclusions: The 2018 HL-EP guideline is inconsistent with the 2015 ACMG/AMP guideline, when judging the pathogenicity of OTOF gene variants in patients with auditory neuropathy. Through the deletion and refinement of evidence and the breaking of solidification thinking, the 2018 HL-EP guideline makes the pathogenicity grading more traceable and improves the credibility.

[Application strategy and effect of cuffed tracheostomy tube with inner cannula in the treatment of postoperative complications of laryngeal or hypopharyngeal cancer].

Objective: To Investigate the application strategy and effect of cuffed tracheostomy tube with inner cannula in the treatment of postoperative complications of laryngeal and hypopharyngeal cancer. Methods: A total of 60 patients with laryngeal and hypopharyngeal cancer occurred serious postoperative complications, including 31 cases of severe postoperative neck infection, 8 cases of dyspnea, 5 cases of massive hemorrhage and 16 cases of seriously intractable aspiration. The tracheal cannula with inner cannula and outer cuff was immediately worn on these patients and the cuff was inflated. Different treatments were carried out according to different complications. The outer cuffs were inflated for patients with severe neck infections to prevent a large amount of neck secretions inhaled to the trachea. Patients with dyspnea immediately received ventilator-assisted ventilation. For those with massive hemorrhage on the wound, doctors should prevent bleeding and stop bleeding under general anesthesia. Patients with severely coughing should perform eating training to prevent food aspiration. The inner cannula was regularly replaced once a month for all of these patients. Results: Through targeted treatment, the complications of 60 patients with cuffed tracheostomy tube with inner cannula were effectively controlled. After dressing change, the neck wounds of 31 patients with neck infection were shrunk or healed. Finally, all of the patients were replaced with metal tracheal tubes. Eight cases with dyspnea were rescued with the symptomatic and related special treatment, and finally replace by metal tracheal tube. Five cases with massive bleeding in the neck wound were successfully rescued and replaced with metal tracheal cannula. Thirteen patients among 16 cases with intractable aspiration were removed the tracheal cannula and other 3 cases of old and severely ill were replaced with metal tracheal cannula. Conclusions: The cuffed tracheostomy tube with inner cannula is of great value in the treatment of severe postoperative complications of laryngeal or hypopharyngeal cancer. It is strongly recommended that the operators should fully understand and use it reasonably after the operation of laryngeal or hypopharyngeal cancer.

[Severe facial malformation caused by secondary hyperparathyroidism in uremia: report of 4 cases].

Objective: To investigate the etiology, characteristics and prevention of severe facial deformity in patients with uremia entering the dialysis stage. Methods: Four cases with uremia in the dialysis stage who presented with severe facial deformity between October 2011 and November 2018 were reviewed, including 3 males and 1 female. The ages were 31, 15, 51 and 61, respectively. The general information, clinical symptoms, biochemical indicators, relevant imaging indicators, diagnoses, treatments and efficacies of the 4 patients admitted to the First Affiliated Hospital of Anhui Medical University were collected. Results: All the 4 patients appeared obviously shorter, accompanied by a certain degree of decline in self-care ability, multiple bone and joint pain and severe facial deformity. They presented with significantly increased serum levels of alkaline phosphatase, calcium, phosphorus and parathyroid hormone, and parathyroid hormone level>2 500 pg/ml.Ultrasonography and (99)Tc(m) radionuclide scan showed in situ or ectopic hyperplasia of parathyroid tissue. Bone radiography showed local decrease of bone mineral density and cystic changes.After parathyroidectomy, the serum levels of alkaline phosphatase, parathyroid hormone, calciumand phosphorus decreased significantly, while bone pain symptoms and facial deformities gradually improved. Conclusion: Secondary hyperparathyroidism is a serious complication in patients with dialysis and few of patients may have severe facial deformity (Sagliker syndrome) affecting their normal life and social activities. Parathyroidectomy can improve the facial deformity and the quality of life of patients.

[Surgical treatment of stomal recurrence after tracheotomy].

Objective:The aim of this study is to investigate the perioperative management of stomal recurrence after tracheostomy including the method of surgical resection and repairment of postoperative defect. Method:Fifteen cases of stomal recurrence after tracheostomy, all cases received preoperative neck to chest enhanced CT scan or PET-CT examination to determine the scope of the lesion, electronic gastroscope or esophageal radiography to understand whether the esophageal mucosa is invased. All cases received extended resection and low tracheostomy. Result:Seven cases were repaired with pedicle pectoralis major myocutaneous flap. Five cases were repaired with internal thoracic artery perforator flap. Two cases were chosed approaching the skin and subcutaneous tissue, such as pedicled rotator flap or Z-shaped flap or V-Y advance flap to repaire. 1 case was chosed Stomach lifting instead of esophageal surgery and near skin flap for repairment. In all cases, the operations were completed successfully and none patient died during the perioperative period. All patients received postoperative radiotherapy after surgery. Conclusion:After proper examination, the selected stomal recurrence after tracheostomy can be surgically treated. The key to judgment before surgery is whether the surrounding large vessels can be safely dissected or reconstructed, and whether or not tracheostomy can be performed after resection. The appropriate method of repairing the defect during the operation can successfully complete the operation and extend the lives of some patients. Patients with tracheostomy maintenance should pay special attention to regular follow-up after surgery.

[Comparison of clinical outcomes of frozen-thawed blastocysts derived from non-pronucleus or two pronucleus zygotes].

Objective: To evaluate the application value of the blastocysts derived from non-pronucleus (0PN) zygotes by the good quality blastocyst formation rate and the clinical outcomes of frozen-thawed blastocyst transfers. Methods: The good quality blastocyst formation rate derived from 0PN zygotes was compared with that derived from2 pronucleus (2PN) zygotes in in vitro fertilization (IVF) or intracytoplasmic sperm injection (ICSI) cycles from January 2015 to December 2016. In addition, the clinical pregnancy, embryo implantation and live birth rates of frozen-thawed blastocyst transfers with blastocysts derived from 0PN and 2PN zygotes were analyzed on corresponding dates. Results: (1) In IVF cycles, the high quality blastocysts formation rate of 2PN embryos was significantly higher than that of 0PN (46.64% versus 42.42%, P<0.01) . In ICSI cycles, the high quality blastocysts formation rate of 2PN embryos was markedly higher than that of 0PN (41.96% versus 21.73%, P<0.01) . (2) In frozen-thawed embryo transfer cycles for IVF, the clinical pregnancy, implantation and live birth rates of D5 0PN blastocysts were significantly higher than those of D6 2PN (52.64% versus 46.78%, 49.91% versus 41.20%, 46.54% versus 39.56%, all P<0.05) , however, the abortion and newborn abnormal rates of D5 0PN blastocysts were lower than those of D6 2PN blastocysts (17.37% versus 23.36%, 1.31% versus 4.21%, both P<0.05) ; the clinical pregnancy, implantation and livebirth rates of D5 2PN blastocysts were significantly higher than those of D5 0PN (59.73% versus 52.64%, 55.95% versus 49.91%, 53.03% versus 46.54%, all P<0.05) , but newborn abnormal rate was a little higher than that of D5 0PN (3.90% versus 1.31%, P<0.05) ; the clinical pregnancy, implantation and live birth rates of D5 2PN blastocysts were significantly higher than those of D6 2PN (59.73% versus 46.78%, 55.95% versus 41.20%, 53.03% versus 39.56%, all P<0.05) , and the abortion rate of D5 2PN blastocysts was lower than that of D6 2PN blastocysts (18.23% versus 23.36%, P<0.05) . Conclusions: Although the blastocysts derived from 0PN could be transffered, the blastocysts derived from 2PN zygotes are preferred in all cycles. In IVF cycles, the good quality blastocysts derived from 2PN or 0PN zygotes will be transferred.

A novel HLA-A*24 allele, A*24:231, was identified by sequence-based typing.

HLA-A*24:231 has one nucleotide change from HLA-A*24:02:01:01 at position 784 G>C.

Identification of the novel HLA-B*27:103 allele in a Chinese bone marrow donor.

HLA-B*27:103 has one nucleotide change from HLA-B*27:04:01 at position 121C > T.

[Surgical management of elderly patients with medial wall pyriform sinus cancer].

Objective: To investigate the clinical efficacy of preoperative-, postoperative-radiotherapy and surgery for preserving laryngeal function in patient over 70 years of age with medial wall pyriform sinus cancer. Methods: Clinical data of 48 patients over 70 years of age with medial wall pyriform sinus cancer who received surgical treatment from January 2001 to December 2010 were retrospectively analyzed. Among them, 21 cases were given preoperative radiotherapy and surgery (R+ S). The radiation therapy dose was 45 Gy. And 14 cases' larynx is preserved. In addition, 27 cases were given postoperative radiotherapy and surgery (S+ R). The radiation therapy dose was 65 Gy. And 10 cases had preserved laryngeal function. Survival rates were analyzed by the Kaplan-Meier method. Chi-square test was used to compare complications between two groups. Results: The larynx preservation rate in R+ S group [66.7% (14/21)] was significantly higher than that in S+ R group [37.0% (10/27), P<0.05]. The complication rate and decannulation rate in R+ S group were 42.9% (9/21) and 64.3% (9/14), respectively, showing no difference compared with those in S+ R group [37.0% (10/27) and 50.0% (5/10), respectively] (all P>0.05). The complication rates of patients with and without larynx preservation were 41.7% (10/24) and 37.5% (9/24), respectively, showing no difference between two groups (P>0.05). The overall 3-years and 5-years survival rates for all patients were 54.2% (26/48) and 35.4% (17/48), respectively. There was no significant difference in survival rates between R+ S [38.1% (8/21)] group and S+ R group [33.3% (9/27), P>0.05)]. In the R+ S group, the survival rates in patients with and without larynx preservation were 40.0% (4/10) and 29.4% (5/17), respectively, showing no significant difference between two groups (P>0.05). Conclusions: It is secure and effective to choose the operation with laryngeal preservation for patient over 70 years of age with medial wall pyriform sinus cancer based on their physical conditions and the tumor extension. The preoperative- and postoperative-radiotherapy have the similar effect. Preoperative radiotherapy and surgery increases the laryngeal preservation rate.

Identification of the novel HLA-A*11:141 allele in a Chinese bone marrow donor.

HLA-A*11:141 has 1 nucleotide change from HLA-A*11:01:01 at position 470G>C.

Underreported use of palliative care and patient-reported outcome measures to address reduced quality of life in patients with calciphylaxis: a systematic review.

Calciphylaxis is associated with significant morbidity and mortality. Palliative care (PC) is a subspecialty that treats the pain and stress of serious illness. To assess whether the role of quality of life (QoL) indices, patient-reported outcome measures and PC have been studied in patients with calciphylaxis, we performed a systematic literature review. Several databases were searched from inception to October 2016 according to modified Preferred Reporting Items for Systematic Reviews and Meta-Analyses criteria. We searched for papers on calciphylaxis that mentioned the symptoms and supportive needs of patients, QoL or outcome measures to report symptom severity, and the involvement of PC. Twelve papers met the inclusion criteria. Reported patient symptoms included pain, skin lesion resolution and pruritus, with the first being the most frequently reported. Four papers measured pain using a previously verified patient-reported outcome measure, including the Visual Analogue Scale. One paper used a verified QoL measure, the Dermatology Quality of Life Index. No tool was used consistently. Eight papers reported the use of hospice care or PC in the treatment of calciphylaxis. No outcome measure was used to prompt PC involvement. Overall, QoL indices, patient-reported outcome measures and PC are underreported in the treatment of calciphylaxis. PC may be a resource to assist in symptom management and adaptive coping strategies for patients from the onset of disease.

[Lymphadenectomy using dissection and protection of carotid sheath and main nerves in surgery for benign diseases in the neck].

Objective: To investigate the significance of lymphadenectomy using dissection and protection of carotid sheath and main nerves in treating complex benign disease of neck. Methods: A total of 54 cases with benign diseases in neck who received the protective surgical treatments were reviewed. There were 25 cases of recurrent branchial fistula, 15 cases of lymphoid tuberculosis, 5 cases of cystic hygroma, 5 cases of racemose angioma, and 4 cases of Madelung's disease. According to the location and extent of disease, all cases received operation with dissection and protection of carotid sheath and main nerves to removal lesions with lymphoid tissue and fat-connective tissue. Results: All cases recovered well, and no recurrence occurred with follow-up of 3 to 65 months. There was no other complication except for occurring of Horner syndrome in 1 patient. Conclusion: The protective surgical method has certain application value in the treatment of benign neck diseases that have no indefinite boundary and widely distribute.

[A study of 16 cases on the island pectoralis major muscle flap in repair for the defects after the laryngeal function reserved operation of hypopharyngeal carcinoma].

Objective:To explore the application about island pectoralis major muscle flap in repair for the defects after the laryngeal function reserved operation of hypopharyngeal carcinoma.Method:A retrospective analysis about 16 patients who underwent hypopharyngeal carcinoma surgery using pedicle island pectoralis major myocutaneous flap to repair, including 14 cases whose primary tumors located in the piriform fossa, and 2 cases in pharynx posterior wall.Result:All 16 cases' pectoralis major muscle flap survived, 2 of patient appeared to have a pharyngeal fistula, but recovered after transition. Of the 16 cases, 14 cases were removed the trachea tube in 1-3 months, 2 cases survive with tube, and all patients were satisfied with their appearance and the function. In 16 cases, 2 of them survived 3 and a half years, died of lung metastasis; 2 cases survived for four years, 1 died of local recurrence of tumor and another died of heart disease; 1 survived for four and a half years and died of lung metastasis; the remaining 11 cases were still in follow-up.Conclusion:The application in the surgical defect repair of pharyngeal carcinoma with pedicle island pectoralis major myocutaneous flap is safe and effective.

[Preoperative airway management and perioperative period asphyxia prevention in patients with tumors invasion in the cervical tracheal].

Objective:To investigate the effect of preoperative airway treatment and postoperative asphyxiation preventive measures in patients with tumors invasion in the cervical tracheal. Method:The clinical date of 35 patients with different degree of tumors invasion in the cervical tracheal were analyzed retrospectively. Anesthesia including normal endotracheal intubation anesthesia, awake intubation anesthesia with visual laryngoscope assisted after topical anesthesia, intubation anesthesia with preoperative tracheotomy, intubation anesthesia after transection of trachea and anesthesia with extracoporeal circulation was selected according to the patient's situation such as whether exist forced position, or the extent of dyspnea, or the range of recurrent tumor. Preventive tracheotomy or fistulization was performed according to the patients' tracheal involvement and the choice of operation and general condition during the operation. Result:All 35 patients were successfully anesthetized, 17 of whom had no dyspnea or forced position, this kind patients were all anesthesia successfully, and 3 of them underwent prophylactic tracheotomy. Sixteen cases of nonrecurrent tumor with forced position, 15 patients were accepted awake anesthesia successfully with visual laryngoscope assisted after topical anesthesia, 1 patient who cannot be intubated or done tracheotomy is completed with extracorporeal circulation; prophylactic tracheotomy or tracheostomy was performed in this group. Of 2 cases of recurrent tumor with forced posture, preoperative tracheal intubation failed, 1 case was intubated after emergency transection of trachea, 1 case was successfully intubated by emergency tracheotomy before operation and 2 cases received postoperative tracheostomy. In this study, no serious complications such as massive bleeding, asphyxia and cardiovascular accident occurred after the operation. Conclusion:The preoperative airway management of patients whose tumors involves the cervical tracheal and whether tracheotomy or ostomy need to prevent asphyxia or not should be based on the nature of the tumor such as whether is recurrent, the extent of trachea involvement and whether to merge the OSAHS. Only by considering the various factors that affect the airway synthetically, an effective method can be adopted to ensure the safety of the operation.