Papillary thyroid carcinoma (PTC), the most common malignancy of the endocrine system, is frequently driven by BRAFV600E mutation, which was reported in 35-60% cases in Western series. Numerous studies have recently emerged from Asian countries and regions; however sufficient summary is lacking to date. BRAF mutation serves as a diagnostic and prognostic tool in thyroid cancer, therefore establishing a rate of BRAF on the national scale could be of practical significance. We performed systematic reviews of available literature to investigate the prevalence of BRAF mutation in series of PTC from various Asian countries and regions. Out of the total 3,966 reports identified via initial screening, 138 studies encompassing over 40,000 PTCs were included for the final analysis. A vast majority (90.2%) of PTCs with known BRAF status were from East Asia, including China, South Korea, and Japan, with BRAF mutation rates of 71.2%, 75.5%, and 70.6%, respectively. Less abundant Indian and Saudi Arabian series found 45.6% and 46.3% prevalence of BRAFV600E in PTC, respectively. Much limited evidence was available from Thailand, Iran, Kazakhstan, Taiwan, Singapore, Indonesia, Hong Kong, Philippines, Vietnam, Iraq, and Myanmar. No relevant publications were found from other highly populated countries, such as Pakistan, Bangladesh, and Malaysia. After grouping by geographic region, we found that the highest rate of BRAFV600E was reported in the PTC series from East Asia (76.4%). Much lower rate (45-48%) was seen in PTC cohorts from South Asia, Central Asia, and the Middle East while the Southeast Asian series were in between (57%). Further subgroup analysis revealed that studies employing fresh frozen tissue and fine-needle aspirates showed higher rates of BRAF compared to those used formalin-fixed paraffin-embedded tissues. We found that the PTC series enrolled patients' cohorts after 2010 demonstrated a higher rate of BRAF compared to the earlier series. Finally, pediatric PTCs had lower BRAF prevalence compared to the baseline rate for the country. In conclusion, despite considerable among and within countries heterogeneity, the Asian PTC series showed a higher prevalence of BRAFV600E mutation than that in Western series. Causes of geographic heterogeneity, whether genuine (etiology, genetics) or methodology-related should be further investigated.

/pdf/prevalence-of-brafv600e-mutation-in-asian-series-of-389jiuscuy.pdf

Prevalence of BRAFV600E mutation in Asian series of papillary thyroid carcinoma-a contemporary systematic review.

Thyroid cancer is a rare malignancy in the pediatric population that is highly associated with disease aggressiveness and advanced disease stages when compared to adult population. The biological and molecular features underlying pediatric and adult thyroid cancer pathogenesis could be responsible for differences in the clinical presentation and prognosis. Despite this, the clinical assessment and treatments used in pediatric thyroid cancer are the same as those implemented for adults and specific personalized target treatments are not used in clinical practice. In this review, we focus on papillary thyroid carcinoma (PTC), which represents 80-90% of all differentiated thyroid carcinomas. PTC has a high rate of gene fusions and mutations, which can influence the histologic subtypes in both children and adults. This review also highlights telomere-related genomic instability and changes in nuclear organization as novel biomarkers for thyroid cancers.

https://www.mdpi.com/2072-6694/12/11/3146/pdf

Genetic Landscape of Papillary Thyroid Carcinoma and Nuclear Architecture: An Overview Comparing Pediatric and Adult Populations.

Rare diseases affect over a hundred million people worldwide, most of these patients are not accurately diagnosed and effectively treated. The limited knowledge of rare diseases forms the biggest obstacle for improving their treatment. Detailed clinical phenotyping is considered as a keystone of deciphering genes and realizing the precision medicine for rare diseases. Here, we preset a standardized system for various types of rare diseases, called encyclopedia of Rare disease Annotations for Precision Medicine (eRAM). eRAM was built by text-mining nearly 10 million scientific publications and electronic medical records, and integrating various data in existing recognized databases (such as Unified Medical Language System (UMLS), Human Phenotype Ontology, Orphanet, OMIM, GWAS). eRAM systematically incorporates currently available data on clinical manifestations and molecular mechanisms of rare diseases and uncovers many novel associations among diseases. eRAM provides enriched annotations for 15 942 rare diseases, yielding 6147 human disease related phenotype terms, 31 661 mammalians phenotype terms, 10,202 symptoms from UMLS, 18 815 genes and 92 580 genotypes. eRAM can not only provide information about rare disease mechanism but also facilitate clinicians to make accurate diagnostic and therapeutic decisions towards rare diseases. eRAM can be freely accessed at http://www.unimd.org/eram/.

/pdf/eram-encyclopedia-of-rare-disease-annotations-for-precision-czj43sm5x2.pdf

eRAM: encyclopedia of rare disease annotations for precision medicine

Pediatric differentiated thyroid carcinoma: An update from the APSA Cancer Committee.

There is a significant number of children around the world suffering from the consequence of the misdiagnosis and ineffective treatment for various diseases. To facilitate the precision medicine in pediatrics, a database namely the Pediatric Disease Annotations & Medicines (PedAM) has been built to standardize and classify pediatric diseases. The PedAM integrates both biomedical resources and clinical data from Electronic Medical Records to support the development of computational tools, by which enables robust data analysis and integration. It also uses disease-manifestation (D-M) integrated from existing biomedical ontologies as prior knowledge to automatically recognize text-mined, D-M-specific syntactic patterns from 774 514 full-text articles and 8 848 796 abstracts in MEDLINE. Additionally, disease connections based on phenotypes or genes can be visualized on the web page of PedAM. Currently, the PedAM contains standardized 8528 pediatric disease terms (4542 unique disease concepts and 3986 synonyms) with eight annotation fields for each disease, including definition synonyms, gene, symptom, cross-reference (Xref), human phenotypes and its corresponding phenotypes in the mouse. The database PedAM is freely accessible at http://www.unimd.org/pedam/.

/pdf/pedam-a-database-for-pediatric-disease-annotation-and-4vntmfbgvk.pdf

PedAM: a database for Pediatric Disease Annotation and Medicine.

In adults, the presence of the BRAF V600E mutation in papillary thyroid cancer (PTC) has been demonstrated to be strongly associated with aggressive cancer-cell characteristics and poor patient prognosis. In contrast, the frequency of this mutation in pediatric PTC has undergone limited study, and the few available estimates range from 0 to 63%. Furthermore, the role of the BRAF V600E mutation in pediatric PTC is controversial; thus, the present study aimed to investigate the prevalence and role of the BRAF V600E mutation in 48 pediatric patients with PTC, aged 3–13 years. Of these patients, 41 were diagnosed with classic PTC, five were found to have a follicular variant of PTC, and two to exhibit a diffuse sclerosing PTC variant. The BRAF V600E mutation was identified to be present in 35.4% of the 48 analyzed patients, and in 41.5% of the patients diagnosed with classical PTC. Furthermore, the presence of the BRAF V600E mutation was found to be associated with a patient age at diagnosis of less than ten years ( P =0.011), the performance of a thyroidectomy ( P =0.03), exhibited tumor multifocality ( P =0.02) and/or extra-thyroidal invasion ( P =0.003), and both a low MACIS (Metastases, Age, Completeness of resection, Invasion, Size)( P =0.036) and AMES (Age, Metastasis, Extent of tumor, Size)( P =0.001) score. Together, these data suggest that the presence of the BRAF V600E mutation may be negatively correlated with partial aggressive clinicopathological features of pediatric PTC.

Correlation between BRAF V600E mutation and clinicopathological features in pediatric papillary thyroid carcinoma

Objectives Recurrent bacterial meningitis (RBM) is a rare but life-threatening disease. This study aims to analyze the clinical features, potential causes, and therapeutic outcomes of RBM in children. Methods This article retrospectively reviews the clinical characteristics, etiologies, and treatments in children with RBM hospitalized in Hebei children's hospital from 2012 to 2020. Results A total of 10 children with RBM, five males and five females, were included in this study. The age of RBM in children spans from the neonatal stage to the childhood stage. The underlying illnesses were identified and classified as cerebrospinal fluid rhinorrhea (1 case), humoral immunodeficiency with Mondini dysplasia (1 case), common cavity deformity with cerebrospinal fluid ear leakage (1 case), Mondini malformations (2 cases), incomplete cochlear separation type I with a vestibular enlargement (2 cases), local inflammation of the sphenoid bone caused by cellulitis (1 case), congenital skull base defects (1 case), and congenital dermal sinus with intraspinal abscess (1 case). 6 patients chose targeted therapy for potential reasons. Conclusions Congenital abnormalities or acquired injuries lead to intracranial communication with the outside world, which can quickly become a portal for bacterial invasion of the central nervous system, resulting in repeated infections.

/pdf/a-retrospective-study-of-recurrent-bacterial-meningitis-in-3n3pr5l8.pdf

A Retrospective Study of Recurrent Bacterial Meningitis in Children: Etiology, Clinical Course, and Treatment

In this paper, a case of middle ear cholesteatoma with sigmoid sinus thrombophlebitis and retroauricular subperiosteal abscess was reported. The female patient was hospitalized with bilateral ear abscess for more than 20 days and fever with vomiting for 14 days. Anti-infection treatment after admission, emergency right mastoid radical resection and tympanoplasty were performed under general anesthesia. The patient recovered well after surgery, and there was no recurrence after in the follow-up for more than 2 years.The clinical manifestations, imaging features and prognosis of this disease were discussed and analyzed in the paper.

[Cholesteatoma of the middle ear combined with intracranial and extracranial complications in children: a case report].

Objective:To analyze and summarize the clinical characteristics, diagnosis, treatment and prognosis of benign upper airway space occupancy in infants. Methods:The clinical data of 141 cases with begin upper airway space from January 2012 to January 2022 were analyzed. Among them, 101 were male and 68 were female, the age is 0-3 years old. In which there were 24 newborns. The clinical characteristics, auxiliary examination and treatment results were summarized and analyzed. Results:The main clinical manifestations of 141 infants were dyspnea and/or laryngeal wheezing, including 116 cases of congenital cyst of tongue, 15 cases of hair polyps, 4 cases of nasopharyngeal second pharyngeal fissure cysts, 2 cases of congenital laryngeal cysts, 2 cases of pharyngeal bronchial cyst, 1 case of nasopharyngeal teratoma and 1 case of myofibroma. All the infants had completed the corresponding examination and treatment. The diagnosis was clear, and there was no missed diagnosis or misdiagnosis. Among them, 19 infants with congenital cyst of tongue were given cyst puncture to relieve dyspnea. 2 cases of congenital cyst of tongue recurred half a year after operaion, and then they underwent reoperation. The prognosis of the remaining infants were good. Conclusion:The most common occupying of benign upper airway space occupancy is cyst, and low-temperature plasma resection under endoscope is the main treatment method. Timely puncture therapy is also a safe and effective treatment for infants who are dyspnea and life threatening.

[Analysis of 141 cases with benign upper airway occupying in infant].

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Papers

Correlation between BRAF V600E mutation and clinicopathological features in pediatric papillary thyroid carcinoma

A Retrospective Study of Recurrent Bacterial Meningitis in Children: Etiology, Clinical Course, and Treatment

[Cholesteatoma of the middle ear combined with intracranial and extracranial complications in children: a case report].

[Analysis of 141 cases with benign upper airway occupying in infant].