Patients with MMAF induced by novel biallelic CFAP43 mutations have good fertility outcomes after intracytoplasmic sperm injection.

As a specific type of asthenoteratozoospermia, multiple morphological abnormalities of the sperm flagella (MMAF) is characterized by composite abnormalities, including absent, short, coiled, angulation, and irregular-caliber flagella. Mutations in cilia- and flagella-associated protein 43 ( CFAP43 ) are one of the main causative factors of MMAF established to date. To identify whether there are other CFAP43 mutations related to MMAF and to determine the clinical outcomes of assisted reproductive technology for patients with MMAF harboring different mutations, we recruited and screened 30 MMAF-affected Chinese men using a 22-gene next-generation sequencing panel. After systematic analysis, seven mutations in CFAP43 , including five novel mutations and two previously reported mutations, were identified from four families and related to MMAF in an autosomal recessive pattern. Papanicolaou staining, immunofluorescence, and electronic microscopy further clarified the semen characteristics and abnormal sperm morphologies, including disorganized axonemal and peri-axonemal structures, of the CFAP43 -deficient men. The female partners of two patients were pregnant after undergoing assisted reproductive technology through intracytoplasmic sperm injection, and one of them successfully gave birth to a healthy boy. This study significantly expands the mutant spectrum of CFAP43 , and together with the available information regarding male infertility and MMAF, provides new information for the genetic diagnosis and counseling of MMAF in the future.

Etiology and diagnostic value of nasopharyngeal endoscopy in children with upper airway cough syndrome / 中国内镜杂志

Objective To explore the etiological analysis and diagnostic value of nasopharyngeal endoscopy in children with upper airway cough syndrome. Method The results of nasopharyngeal endoscopy in 120 children diagnosed with upper airway cough syndrome from January 2014 to December 2016 were analyzed. Results Of the 132 cases, 125 cases (94.70％) with upper airway lesions were found, and among the 125 cases, 43 cases (32.58％) had sinusitis, 32 cases (24.24％) had chronic rhinitis (including allergic rhinitis), 13 cases (9.85％) had adenoid hypertrophy, 11 cases (8.33％) had chronic pharyngitis, chronic tonsillitis (tonsil hypertrophy) 9 cases (6.82％). The distribution of upper airway lesions was different in different age groups (P < 0.05). Conclusion Nasopharyngeal endoscopy in the upper airway cough syndrome etiology analysis and diagnosis can be accurate and timely detection of local airway lesions, clinical diagnosis and treatment to provide good help. It is a safe and effective examination method, worthy of clinically promotion.

[Comparison of sensitivity of audiological tests to identify otitis media with effusion in newborn infants].

OBJECTIVE: To investigate the sensitive factors which were used in routine audiological tests to find out otitis media with effusion (OME) in newborn infants. METHODS: Subjects of this study were 48 infants, including 31 males and 17 females, who failed in the universal newborn hearing screening. The age ranged from 1.5 to 12 months with the average age of 4.3 months. All subjects accepted temporal bone CT and routine audiological assessments, including air-conduction and bone-conduction auditory brainstem response (ABR), 40 Hz-auditory event related potential (40 Hz-AERP), distortion-product otoacoustic emission (DPOAE), acoustic reflex, tympanometries using 226 Hz and 1000 Hz probe tone. Nine factors were statistically analyzed using Kappa test, Univariate chi(2) test and multivariate condition Logistic stepwise regression analysis, which included the results of acoustic immittance, the air-conduction and bone-conduction ABR thresholds, the difference between air-conduction and bone-conduction ABR thresholds, the latency of ABR wave I, duration between ABR wave I and V, 40 Hz-AERP thresholds, amplitudes and thresholds of DPOAE, and acoustic reflex thresholds (ART). RESULTS: Seventy-seven ears were diagnosed with OME, and 19 ears were normal. CT scan of temporal bone was set as a comparative standard. Kappa test indicated that the results of tympanometry with 1000 Hz probe tone (Kappa = 0.745, P < 0.001), the air-conduction ABR threshold (Kappa = 0.453, P < 0.001), the latency of ABR wave I (Kappa = 0.430, P < 0.001), the threshold of 40 Hz-AERP (Kappa = 0.582, P < 0.001), and DPOAE (Kappa = 0.495, P < 0.001) had agreement with the results of temporal bone CT on evaluating the function of middle ear. Univariate analysis indicated that sensitive factors of middle ear function in newborn infants were tympanometry with 1000 Hz probe tone (P < 0.001), ART (P < 0.001), the air-conduction ABR threshold (P < 0.001), the difference between air-conduction and bone-conduction ABR thresholds (P < 0.001), the latency of ABR wave I (P < 0.001), the threshold of 40 Hz-AERP (P < 0.001) and DPOAE (P < 0.001). And multivariate conditional Logistic stepwise regression model showed that tympanometry with 1000 Hz probe tone (P < 0.001) and 40 Hz-AERP threshold (P = 0.004) can be substituted into Logistic stepwise regression equation. CONCLUSIONS: Tympanometry with 1000 Hz probe tone and are sensitive factors to find out OME in newborn infants. The air conduction ABR threshold, ABR wave I latency, 40 Hz-AERP threshold and DPOAE could reflect the middle ear function of newborn infants effectively.

Detection of hepatitis B virus genotypes using oligonucleotide chip among hepatitis B virus carriers in Eastern China.

AIM: To determine the genotype distribution of hepatitis B virus (HBV) with a newly oligonucleotide chip assay among the HBV carriers in Eastern China. METHODS: An assay using oligonucleotide chip was developed for detection of HBV genotypes in serum samples from HBV DNA-positive patients in Eastern China. This method is based on the principle of reverse hybridization with Cy5-labeled amplicons hybridizing to type-specific oligonucleotide probes that are immobilized on slides. The results of 80 randomly chosen sera were confirmed by direct sequencing. RESULTS: HBV genotype B, C and mixed genotype were detected in 400 serum samples, accounting for 8.3% (n = 33), 83.2% (n = 333), and 8.5% (n = 34), respectively. The evaluation of the oligonucleotide assay showed 100% concordance with the amplicon phylogenetic analysis except 9 mixed genotype infections undetected by sequencing. CONCLUSION: The study indicates that HBV genotype C and B prevail in the Eastern China. It is suggested that the oligonucleotide chip is a reliable and convenient tool for the detection of HBV genotyping.