OBJECTIVE: To study the results of TEOAE and AABR hearing screening and follow-up in NICU. METHOD: Total 574 cases in NICU were included in this study, all cases received both TEOAE and AABR hearing screening while admission and rescreening when one-month-old. The cases that were abnormal on either test in rescreening were asked to return for diagnostic tests at 3 moths old. The patients who didn't return as required in 3 months were surveyed by call and analyzed. RESULT: Among 574 cases, 472 cases passed both TEOAE and AABR hearing screening while admission. While 102 cases had abnormal test results in either screening test. Thirty-three cases returned for follow-up, 13 of which passed rescreening test one month after discharge, the other 20 cases had ABR diagnostic tests after 3 months. Among them, 8 cases had normal hearing, 12 cases had various degree of hearing loss. Sixty-nine cases lost follow-up. The reason of lost follow-up was as follows, parents changed phone number/contact information, parents didn't understand the screening results, parents believe that their children having no need for further testing; parents had retest in other hospitals, parents didn't pay attention to hearing loss because of other severe complicated comorbidities. CONCLUSION The passing rate (normal) of TEOAE and AABR hearing screening in NICU was 82.2%, non- passing rate wass 17.8%, and the prevalence of hearing loss was high in those followed cases. Hyperbilirubinemia was the main risk factors of hearing loss in our NICU patients. We reviewed the reason for high rate (67.6%) of losing follow-up.
Female ; Follow-Up Studies ; Hearing Tests ; Humans ; Infant, Newborn ; Intensive Care Units, Neonatal ; statistics & numerical data ; Lost to Follow-Up ; Male ; Neonatal Screening ; Retrospective Studies

Objective To evaluate the effect of hepatic vein occlusion and stent replacement in treatment for Budd-Chiari syndrome(BCS).Methods Forty three patients with BCS were underwent percutanous puncture,radiography,transjugular angioplasty,balloon dilation and stent placement for hepatic vein under Doppller ultrasounographic guidance from July 2001 to September 2006. Results Technical success was 100%with no complications.The medium vein pressure was reduced from 32.5 tO 20 cm H2O(1 cm H2O-0.098 kPa)after stents replacement(P＜0.01).The hepatic vein angioplasty revealed that all stents were patent and branches were disappeared.The symptoms in 38 patients were disappeared immediately,and improved in 5 patients.All patients were followed up of 32 months(ranged 1-62).Except one patient died of severe gastric bleeding,the 42 patients were survived with symptoms free.Conclusion Hepatic vein occlusion and stent replacement are safe and effective in treatment of BCS.

Objective:To report four male COL4A5 mutation mosaicism patients with X-linked Alport syndrome, and to provide evidence for diagnosis, genetic counseling, and reproduction in the respective families and improve our knowledge of mosaicism in Alport syndrome. Methods:Suspected male mosaic patients for COL4A5 who met the following criteria: clinical diagnosis of Alport syndrome, harbored COL4A5 mutations detected using next generation sequencing or Sanger sequencing, heterozygosity for the mutant and normal COL4A5 alleles in the DNA demonstrated by Sanger sequencing, registered in the on-line registry of hereditary kidney diseases, and admitted to Peking University First Hospital during the period of April 2018 to April 2019 were enrolled. Clinical data and karyotypes were retrospectively analyzed. Genetic DNA isolated from multiple tissues was analyzed for COL4A5 gene mutations by using PCR and Sanger sequencing. Related literatures published in PubMed, CNKI and Wanfang databases were reviewed. Results:Four COL4A5 somatic and germline mosaic male patients with Alport syndrome were included in the study. Patient 1 was characterized by hematuria and proteinuria. His karyotype of peripheral blood was normal. COL4A5 c.3455-1G>A mosaicism was detected in multiple tissues (peripheral blood, saliva and urine). Patient 2 presented with hematuria and microalbuminuria. His karyotype of peripheral blood was normal. COL4A5 c.4994+1G>A mosaicism was detected in multiple tissues (peripheral blood, saliva and skin fibroblasts). Patients 3 showed hematuria without proteinuria. COL4A5 c.3535G>A mosaicism was found in genomic DNA of peripheral blood and hair. Laboratory and physical examinations of patient 4 showed hematuria and normal renal function, without proteinuria, megasoma or small testes. COL4A5 c.3106G>A mosaicism was detected in genomic DNA of skin fibroblasts. Although without karyotype analysis due to unavailable specimens, 47,XXY or 46,XY/47,XXY mosaicism was not considered according to the reproductive history and lack of clinical manifestations of megasoma and small testes in patients 3 and 4. Renal disease in 8 published male cases with mosaicism for COL4A5 was affected by mutant allelic fractions and genotype. Conclusions:Compared with hemizygous males with X-linked Alport syndrome, the renal phenotype of mosaic males was milder, and associated with mutant allelic fractions and mutation type.

Objective: To investigate the clinical significance of different samples (the peripheral blood, urine and skeletal muscle) that could be detected the large-scale single deletions directly by using next-generation sequencing in the diagnosis of Kearns-Sayre syndrome (KSS) by concluding the clinical and genetic features of KSS, in order to explore a non-invasive method for diagnosis. Methods: The clinical data, skeletal muscle′s pathology and enzymology and genetic results of individuals with KSS, who were hospitalized from October 2016 to October 2017 in Department of Neurology, Beijing Children′s Hospital, Capital Medical University, were collected.The gene tests were performed by using next generation sequencing technology and long-PCR technology of mitochondrial DNA(mtDNA) and the whole exon in the peripheral blood, urine and skeletal muscle. Results: Four patients were all consistent with the diagnosis criteria of KSS, among whom the age of onset was 8.2 years old on average, and the initial symptoms were statue, ptosis, headache and vomiting, and visual impairment.The common symptoms of the 4 cases were ophthalmoplegia, exercise intolerance, development delay, loss of appetite, hypotonia, muscle weakness, with cerebrospinal fluid protein concentration over 1 000 mg/L, the cerebral magnetic resonance imaging showed that abnormal signals in the brainstem, in addition, white matter, thalamus, basal ganglia, cerebrum and cerebellum atrophy could be found.Moreover, 3 cases had cardiac conduction block.Two cases had maternal family history.Molecular analysis of the 4 cases revealed the large-scale single deletions of mtDNA from the peripheral blood, the urine, the skeletal muscle through the next-generation sequencing, which were m. 6460-15590(9 131 bp del), m.8482-13446(4 964 bp del), m.6831-14981(8 151 bp del), m.7983-15495(7 513 bp del), respectively.Among 3 cases who did pedigree analysis, only the mother of case 4 was detected with the same variation of the proband. Conclusions KSS is a rare mitochondrial disease, which could be detected with the single large scale mtDNA deletions in the peripheral blood, urine and skeletal muscle.With the development of the methodology, the diagnosis of KSS maybe no longer than depends on the muscle biopsy with the next-generation sequencing.And the possibility to get the positive results in the peripheral blood and urine by the non-invasive method could improve the molecular diagnosis of KSS.