Causes analysis of misdiagnosis in patients with familial nasal bleeding / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To analyze the causes of misdiagnosis in patients with familial nasal bleeding and to improve the level of diagnosis and treatment.@*METHOD@#The clinical characteristics of 7 families with nose blood were analyzed retrospectively and 2 typical cases were reported, including their treatment and misdiagnosis in consulting, out-patient and in-patient.@*RESULT@#Typical case 1 was misdiagnosed and mistreated for 42 years, misdiagnosed as blood disease so that the patient was biopsied in bone marrow, misdiagnosed as endometriosis so that the patient was performed uterus resection. Typical case 2 was misdiagnosed and mistreated for 17 years, misdiagnosed as upper digestive tract hemorrhage so that the patient was performed endoscopic sleeve ligation, misdiagnosed as inferior turbinate hemangioma so that the patient was performed nasal endoscopic surgery.@*CONCLUSION@#Neglect of family history and the typical signs are the causes of misdiagnosis. So asking about the family history and checking for the typical signs in patients with nose blood can avoid misdiagnosis.

Diagnosis and clinical characteristics of patients with non-allergic rhinitis / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To explore a step-by-step exclusive diagnosis and analyze the clinical characters of non-allergic rhinitis (NAR).</p><p><b>METHODS</b>Patients with symptoms (nasal itching, sneezing, rhinorrhea, nasal congestion) were selected to take four-step exclusive diagnosis for NAR and we tried to eliminate the false NAR and retain the true NAR. First step was to exclude the patients who were not suitable for skin prick test (SPT, such as during pregnancy, breastfeeding, asthma, oral antihistamine medication in 7 day, severe skin diseases). The second step was to exclude the patients with positive SPT and the third step was to exclude the patients with 1 level or above of specific sero-immunoglobulin E (sIgE). The fourth step was to exclude the patients with infection rhinitis, clear abnormal nasal structure, drug-induced rhinitis, nasal neoplasm. The remained patients were finally diagnosed as NAR and who were further differential diagnosed as vasomotor rhinitis (VMR) or non-allergic rhinitis with eosinophilia syndrome (NARES) according to the eosinophilia counts in nasal secretion and venous blood. The common characters of patients with NAR were analyzed and their symptoms and quality of life were evaluated by visual analogue scale (VAS) and rhino-conjunctivitis quality of life questionnaire (RQLQ) separately.</p><p><b>RESULTS</b>One thousand four hundred and thirty-seven patients were included after first step exclusion and 735 cases with negative SPT were remained after second step exclusion. Of 735 patients, 302 were tested in vitro for sIgE and 93 cases with 0 level of sIgE and total IgE were remained after third step exclusion. Sixty-two patients were finally diagnosed as NAR after fourth step exclusion. The NAR diagnosis rate was 51.15% (735/1 437) with negative SPT alone and the NAR diagnosis rate was 29.06% (93/302) with combination of negative SPT and sIgE. Of 62 patients with NAR, 47 patients (75.81%) were diagnosed as VMR and 15 cases (24.19%) as NARES. There were 23 males and 39 females in the 62 patients aged 11 - 77 years. The history was 11-47 months. The biggest numbers of patients with VMR or NARES were among 41-50 years. Their onset ages were among 21-30 years in both two groups. VAS scores of nasal congestion in VMR patients were the highest with significant difference among nasal symptoms (F = 3.958 0, P = 0.009 1). VAS scores of sneezing in NARES patients were the highest but without significant difference among nasal symptoms. There were no difference in seven domain scores of RQLQ and the total mean scores between VMR group and NARES group but the nasal symptoms got the highest scores with significant difference among the seven domains in each group (VMR group, F = 9.771 2, P = 0.000 0;NRAES group, F = 3.226 9, P = 0.006 2).</p><p><b>CONCLUSIONS</b>SPT combined with sIgE may exclude much more patients with AR. Females with NAR are much more than males. Patients with NAR aged 21-30 years. The characters of NAR are helpful to improve our knowledge about NAR. VAS and RQLQ may be a suitable tool in assessment of NAR.</p>

Clinical characteristics of primary ciliary dyskinesia / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To analyze the clinical characteristics of primary ciliary dyskinesia(PCD) so as to improve the diagnostic level of this rarely seen disease.</p><p><b>METHODS</b>Ten patients with PCD were retrospectively reviewed, the medical history, symptoms, signs, lung CT or chest X-ray, rhino-sinus CT scan, nasal nitric oxide (NO) levels, nasal ciliary ultrastructure, DNAH5 and DNAH11 genetic mutation, as well as treatment outcome were analyzed.</p><p><b>RESULTS</b>All 10 patients had recurrent chronic sinusitis, otitis media, bronchitis/bronchiectasis since childhood. Nine cases with translocation of heart and big vessels were diagnosed as Kartagener syndrome. One woman was suffering from barrenness and one man sterility after marriage for long time without birth control. Nasal NO levels were significantly lower in 2 patients with PCD but it was almost normal in one patient. Ciliary ultrastructure investigated by transmission electron microscope were almost normal in 4 cases without missing of inner or outer dynein arms. Two cases taking exome capture sequencing showed that mutations happened in DNAH5 and DNAH11. Five subjects underwenting sanger sequencing on 6 common exon fragments of DNAH5 and DNAH11 did not show any abnormality. Ten cases took medication therapy, while 5 patients once underwent functional endoscope sinus surgery. All of the 10 patients had improvement of their symptoms and signs after treatment.</p><p><b>CONCLUSIONS</b>The PCD is so rare in clinic that it is easily misdiagnosed. Clinical characteristics, nasal NO levels, ciliary ultrastructure and genetic testing are significant for clinical diagnosis.</p>

Early genetic diagnosis in patients with HHT induced severe nosebleed / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To study the early gene diagnosis of hereditary hemorrhagic telangiectasia (HHT) induced severe nosebleed.@*METHOD@#Clinical features of 23 family members in two HHT pedigrees were examined. Genomic DNA was extracted from peripheral blood samples. PCR amplification was conducted to screen ENG and ACVRL-1 genes with their specific primers. Direct sequencing was performed to detect the mutation. Mutation analysis was carried out to evaluate its significance.@*RESULT@#A heterozygous c. 263A > G mutation was identified in exon 3 of ACVRL-1 in 6 out of 11 members in NMG-1 pedigree. In GD-2 pedigree, 5 of 11 members carried c. 199C > G mutation. Mutation detection rate was 100% in subjects with nosebleed history and 25% in family members without epistaxis.@*CONCLUSION@#Gene diagnosis characterized by high sensitivity and specificity is of great practi-cal significance and early genetic screening should be a clinical routine test for HHT induced severe nosebleed.

Clinical and genetic features of a large Chinese family with nonsyndromic autosomal dominant hearing loss / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To investigate the clinical and genetical characteristics of a Chinese family with an autosomal-dominant inherited high-frequency sensorineural hearing loss.@*METHOD@#Pedigree was drawn after investigation. Fifeteen family members were checked up, and detailed audiological examination was performed.@*RESULT@#The proband of the kindred had been diagnosed with senserineural hearing loss. A Chinese family SX-G087 with non-sysdromic hearing loss was ascertained. The inheritance pattern of this family is autosomal dominant based on the investigated information. The affected members showed postlingual, progressive, bilateral moderate to severe sensorineural hearing impairment. The age of onset varied from 20 to 35 years. The hearing loss began at high frequencies, and lower frequencies became involved with increasing age.@*CONCLUSION@#Pedigree analysis suggested an autosomal-dominant inheritance pattern in this family. The information should facilitate linkage analysis and positional cloning for the causative gene of this family.

Clinical and genetic analysis of a patient with Treacher Collins syndrome in TCOF1 gene / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To analyze the clinical and genetic features of a patient with Treacher Collins syndrome (TCS), and identify the mutation in TCOF1 gene.@*METHOD@#The medical history was taken, and general physical examinations and otological examinations were conducted in this patient. Genomic DNA was extracted from this patient and his parents and complete TCOF1 gene coding exons were amplified by specific PCR primers. Direct sequencing was carried out to identify the mutations. The raw data was analyzed with GeneTool software and molecular biological website.@*RESULT@#We detected a heterozygous c. 1639 delAG mutation in exon 11 of TCOF1, which resulted in a truncated protein lacking normal function. This mutation is a novel mutation and the second case identified in exon 11 of in TCS.@*CONCLUSION@#TCS patient reported in this study has unique clinical phenotype. TCOF1 gene mutation is the specific risk factor.