Purpose: To detect a de novo paired box gene 3 (PAX3) mutations, mutational analysis, and associated phenotypes in the Vietnamese Children patients with Waardenburg syndrome type I (WS1). We conduct this study to provide initial information about types, rates, and influences of this particular PAX3 mutations gene in the Vietnamese patients.

Patients and Methods: Three unrelated patients with suspected WS1 were selected from our Genomic extraction DNA, probe and sequence the primers, PCR technique. PAX3 were amplified by polymerase chain reaction (PCR), and then amplicons PCR were analyzed by cycle sequencing. Variations were detected, documented and recognized as “de novo” mutation. We also compared the severity of hearing impairment, phenotypically variations among these individual affected patients.

Results: Number variations of mutations in PAX3 were detected in three patients, respectively: c.955delC (Gln319fsX380), c.667C>% (Arg223Stop). One mutation proved to be de novo as their parents did not carry the mutations, and had never been found in any previous study in Vietnam. All three patients with PAX3 mutations had different iris color, fundi between their two eyes, dystopia canthorum and profound hearing loss. We report the phenotypic expression of WS1 in these three patients and explore the implications for possible genotype phenotype correlations. Sensorineural hearing loss was present in 80% of affected individuals, and spectrum of hearing loss with very high frequency.

Conclusion: De novo mutation in PAX3 has not been reported in Vietnam before. Finally, our finding has detected deletion mutation c.667>T (p.Arg223X) in PAX3 identified in three children individual with WS1. Our analyses indicated that these mutations might constitute a pathogenic-genetic-hearing loss associated with WS1. It is very clinical importance as such patients may be misdiagnosed as congenital hearing loss since it is uncommon in Southern Vietnamese population.

Objective: To investigate the profile of deaf children who attended a teaching-clinic of Speech Language Therapy located in a city in the South of Brazil from 2009 to 2015.

Method: The study was conducted by collecting and analyzing the data found in patients with some degree of hearing loss profiles, in which the following variables were searched: age, gender, referral (who forwarded), origin, age of the diagnosis, hearing aids, complaints, Speech language therapy feedback.

Results: The most recurrent complaint in this clinic is hearing loss, the most frequent speech-language therapeutic feedback is the impairment in the development of the oral language due to hearing loss. As for the age of the diagnosis, 27 were diagnosed between 1 and 3 years old, 6 between 1 and 11 months old, 6 between 4 and 10 years old. Regarding the degree of the hearing loss, 15 present a profound hearing loss, 11 present moderate hearing loss, 7 present a mild hearing loss, and 6 present severe hearing loss. There was not sex prevalence, mean age was about 4 and a half years old, most patients are from Curitiba, and all of them were taken to the clinic by family members and referred by health professionals or by their school.

Conclusion: Many patients with oral language and hearing problems were found in this study, which demonstrates the need of prevention and health promotion actions in those areas.

Objective: To alert the clinician suspecting of an autoimmune disorder like Sjogren Syndrome for children affected by recurrent parotitis, particularly in case of bilateral involvement in order to timely recognize this disease and to facilitate the treatment and the screening for complications.

Materials and Methods: All patients with recurrent parotid swelling between 0 and 14 years, 7 in total referred to the Multidisciplinary Department of Medical and Dental Specialities, Division of Oral and Maxillofacial Surgery (Università degli Studi della Campania Luigi Vanvitelli, Naples, Italy) in the last 2 years, were subjected to clinical, serological, microbiological and ultrasound screening for excluding tumors or infectious diseases. In patients thus selected were diagnosed with Juvenile Recurrent Parotitis and were treated with sialoendoscopy (intraductal wash of saline solution and steroids) or other anti inflammatory drugs. From the formulation of diagnosis, patients were subjected to careful follow-up checks with 6, 12 and 18 months during which they proceeded to repeat initial serological screening if the endoscopic or systemic therapy became ineffective.

Results: Patient 1: Following interventional sialoendoscopy treatment with mechanical dilation and washing with physiological solution and cortisone, howed remission at 18 months. Patient 2: Following interventional sialoendoscopy treatment with mechanical dilation and washing with physiological solution and cortisone showed remission at 18 months. Patient 3: She took prednisone and hydroxychloroquine, with complete resolution of parotid swelling and no further recurrences. Patient 4: Following endoscopic treatment with mechanical dilation and washing with physiological solution and cortisone did not show relapse after 18 months. Patient 5: She took hydroxychloroquine 12 months later with resolution of parotitis symptoms. Patient 6: Following interventional sialoendoscopy treatment with mechanical dilation and washing with physiological solution and cortisone showed remission at 18 months. Patient 7: Following the interventional sialoendoscopy treatment with mechanical dilation and washing with physiological solution and cortisone showed remission of relapse at 18 months.

Conclusions: Recurrent parotitis should alert the clinician to the possibility of pSS especially if it does not respond to treatment with anti-inflammatory therapy and sialoendoscopic washing.