An unusually high prevalence of allergic rhinitis at high altitudes in 6-7 year old children - An epidemiological study.

Objectives: To compare the epidemiology and disease patterns of allergic rhinitis (AR) at 2 different altitudes in children aged 6-7 years, and subsequently to compare with and augment data from international studies. Materials and methods: This is a multistage, clustered and stratified random sample study. The study area comprises 2 distinct areas within Yunnan Province, China. Low altitude was represented by Xishuangbanna Prefecture (XB), while high altitude was represented by Diqing Prefecture (DiQ). Each study area was subdivided into 3 sub-areas, and children aged 6-7 years were randomly sampled based on proportion-weighted sampling. The area studied includes the well-known area of Shangri-La city. Questionnaires were distributed and jointly completed by study participants and their parents or guardians, under the guidance of professional medical staff. Results: 2796 valid questionnaires out of 2933 distributed were obtained (survey response rate 95.3%). The prevalence of AR is statistically significantly higher at high altitude (DiQ, 36.0%, 95%CI 33.2-38.8) as compared to low altitude (XB, 19.7%, 95%CI 17.8-21.6) (p < 0.001). Both areas studied had a greater prevalence of AR compared to international data. In both XB and DiQ, male gender, history of early antibiotic use, urban place of birth and place of residence, presence of smokers within the same household, family history of allergic diseases (such as atopic dermatitis), as well as higher parental educational level were all associated with a higher prevalence of AR (p < 0.05). In DiQ, the prevalence of AR in Han ethnicity was greater than that of ethnic minorities (p < 0.05). In XB, being a single child was associated with an increased prevalence of AR compared to those who had siblings (p < 0.05). Conclusion: Our study found that the prevalence of AR is relatively greater at higher altitudes. Genetic and environmental factors both play an important role in the pathogenesis of AR. While altitude may be an important environmental factor, confounding factors may include humidity, temperature and distribution pattern of common aeroallergens.

The Role of CT Scan in Pediatric Airway Foreign Bodies.

Objective: We aim to determine the utility of CT scan as a method to accurately confirm pediatric airway foreign bodies (AFBs), the current gold standard of which is chest X-ray as the primary imaging modality in the investigation screening of AFBs with progression to microlaryngobronchoscopy. Methods: A retrospective cohort study of children diagnosed with suspected AFBs between July 2019 and June 2020 was conducted. The primary outcome of missed AFBs from radiologic investigations was recorded. Results: A total of 226 children with an average age of 1.94 years were included in this study. One hundred and two children were eventually admitted to the hospital for microlaryngobronchoscopy. A total of 89 cases were initially examined by chest X-ray with the diagnosis confirmed in 26 cases. The initial examination was chest CT scan in 105 cases, of which the diagnosis was confirmed in 46 cases. The initial examination was chest CT scan with airway reconstruction in 32 cases, and the diagnosis was confirmed in 17 cases. Patients with negative chest CT scan with airway reconstruction were observed to have resolution of symptoms with no further need for bronchoscopy. Conclusion: Chest CT scan with airway reconstruction had the highest rate of confirmed diagnosis of pediatric AFBs on initial scanning, followed by chest CT scan, and finally chest X-ray with fluoroscopy; there was no missed diagnosis in chest CT scan with airway reconstruction. Chest CT scan with airway reconstruction can accurately and quickly detect AFBs and reduce unnecessary bronchoscopy.

How Can We Do Better? Learning From 617 Pediatric Patients With Airway Foreign Bodies Over a 2-Year Period in an Asian Population.

Background: Foreign body (FB) in the pediatric airway is a prevailing and crucial emergency with presenting symptoms often overlapping with other common pediatric conditions. There are limited number of large cohort studies in an Asian population which demonstrate the diversity of symptoms, investigations which will aid in obtaining the diagnosis, and management. Using this large cohort, we aim to evaluate the type and location, clinical presentations and outcomes of medical management related to pediatric airway FB in an Asian society. Methods: This is a retrospective study of all airway FB treated in Kunming Children's Hospital, China from February 2016 to June 2019. Six hundred and thirty-two clinical and operative records of all airway FB were retrieved and reviewed from the hospital's central electronic medical records. A total of 617 patients were included in our study. Results: The age ranged from 4 months to 12 years (mean = 1.74 years). The duration of symptoms ranged from 1 h to 605 days, with the diagnosis established at an average 9.16 days. Almost all had multiple symptoms, most commonly cough (98.5%) followed by noisy breathing (98.2%). Majority of the FBs (95.5%) were organic and the rest inorganic. Of the organic FBs, peanut was the most common (31.6%), followed by walnut (13.3%) and sunflower seeds (9.2%). Comparatively, 80.8% of the organic FBs were retrieved incomplete while 85.7% of the inorganic FBs were completely intact. Multiple FBs were noted in 43.3% of the patients, with 2.4% of them in different locations. Conclusions: Airway FB can be easily missed with resultant delay in diagnosis. In an Asian population, walnut and sunflower/pumpkin seeds feature more prominently compared to Western populations. Sunflower seed FBs tend to present earlier and are found intact in the trachea. Rigid bronchoscopy is the most common technique used to remove such FBs and pulmonary-related complications post-operatively, though rare, are the most common adverse outcomes. Preventive strategies targeting the appropriate age group and this type of FB may be useful in an Asian population.

A novel dominant mutation in the SOX10 gene in a Chinese family with Waardenburg syndrome type II.

Waardenburg syndrome type 2 (WS2) is a rare genetic disorder, characterized by bright blue eyes, moderate to profound hearing loss and pigmental abnormalities of the hair and skin. Between 10 and 20 mutations in the SRY­box 10 (SOX10) gene were previously identified to be associated with WS2. The present study aimed to identify the genetic causes of WS2 in a Chinese family. Clinical and molecular analyses were performed to genetically characterize a Chinese family with two cases of WS2. The clinical data of the proband were collected using a questionnaire. The genomic DNA was extracted from peripheral blood samples of each individual in the family, and 168 candidate genes associated with hearing loss were sequenced using the Illumina HiSeq 2000 and confirmed by Sanger sequencing. A heterozygous nonsense mutation [substitution; position 127; cytosine to thymine (c.127C>T)] was identified in exon 2 of SOX10 (transcript ID: NM_006941.3) in the proband and the mother; however, not in other family members or healthy controls. The novel nonsense heterozygous mutation may cause the replacement of codon 43 [arginine (Arg)] with a stop codon (Arg43stop), leading to premature termination of protein translation. The novel nonsense heterozygous mutation c.127C>T in the SOX10 gene was considered to be the cause of WS2 in the family. This mutation has not been identified in any databases, to the best of the authors' knowledge, including The Single Nucleotide Polymorphism Database, The Human Gene Mutation Database, 1000 Genomes Project and ClinVar and Exome Sequencing Project v. 6500.

Diagnosis and surgical treatment of cervical macrocystic lymphatic malformations in infants.

The treatment of lymphatic malformations (LMs) represents a great clinical challenge. The present study reported on the treatment of 68 infants with cervical macrocystic LMs using surgical resection. The cases were retrospectively analyzed. All patients underwent pre-operative ultrasonography, computed tomography (CT), and magnetic resonance imaging (MRI) examinations. The surgery was performed under general anesthesia with endotracheal intubation. Ultrasonograms showed that 24 cases were monolocular, 44 were multilocular, 16 had no echo, 20 had a uniform low-level echo and 32 had a non-uniform low-level echo. CT showed non-enhancing low-attenuating cystic lesions and attenuation values of 10-45 HU. The magnetic resonance images of the LMs showed a low signal intensity on T1-weighted imaging (WI) and a high signal intensity on T2-WI. Complete resection was achieved in 56 patients, subtotal resection in eight and partial resection in four. Two complications were noted, including reversible paresis of the marginal mandibular branch of the facial nerve and a surgical-site infection. One patient in whom partial resection was achieved had recurrence at ~2 months after the surgery. Ultrasonography, CT and MRI clearly demonstrated the size, shape, extent and adjacent structures of LMs, which aided in surgical planning and assessment of potential risks. Surgical excision increased the chances of cure and was relatively safe for infants aged <1 year. Location and extent, rather than age, were determined to be the most important factors for successful surgical treatment.

Waardenburg syndrome type II in a Chinese patient caused by a novel nonsense mutation in the SOX10 gene.

OBJECTIVE: Waardenburg syndrome is a congenital genetic disorder. It is the most common type of syndromic hearing impairment with highly genetic heterogeneity and proved to be related by 6 genes as follows: PAX3, MITF, SNAI2, EDN3, EDNRB and SOX10. This article aims to identify the genetic causes of a Chinese WS child patient. METHODS: A Chinese WS child was collected for clinical data collection by questionnaire survey. DNA samples of proband and his parents were extracted from peripheral blood samples. Six candidate genes were sequenced by the Trusight One sequencing panel on the illumina NextSeq 500 platform. RESULTS: A novel nonsense heterozygous mutation was found in the coding region of exon 2 in the SOX10 gene of proband. The novel nonsense heterozygous mutation could cause the replacement of the 55th lysine codon by stop codon (484T > C, C142R) and further more possibly cause terminating the protein translation in advance. However, both proband's parents had no mutation of genes above mentioned. CONCLUSION: The gene mutation of SOX10 [NM_006941.3 c.163A > T] is a novel nonsense mutation. No record of this mutation has been found in dbSNP, HGMD, 1000 Genomes Project, ClinVar and ESP6500 databases. It meets the condition of PS2 of strong evidence in 2015 ACMG Standards and Guidelines.