Clinical and genetic characteristics of 12 cases of Loeys-Dietz syndrome / 中华医学遗传学杂志

OBJECTIVE@#To summarize the clinical features and spectrum of genetic variants in 12 patients with Loeys-Dietz syndrome (LDS), and to explore the correlation between the type of genetic variants and clinical phenotypes.@*METHODS@#Twelve patients suspected for LDS at Beijing Anzhen Hospital Affiliated to Capital Medical University from January 2015 to January 2022 were selected as the study subjects. Clinical data of the patients were collected. Genomic DNA was extracted from peripheral blood samples and subjected to genetic testing. Pathogenicity of candidate variants was analyzed.@*RESULTS@#The clinical phenotypes of the 12 patients have mainly included cardiovascular, musculoskeletal, craniofacial, skin, ocular and other systemic signs. Four patients (patients 5-1, 5-2, 6, 7) have carried heterozygous missense variants of the TGFBR1 gene, 5 patients (patients 1-1, 1-2, 2, 3, 4) have carried heterozygous variants of the TGFBR2 gene, and 2 patients (patients 8-1, 8-2) had carried heterozygous frameshift variants of the TGFB3 gene. One patient (patient 9) had carried a heterozygous missense variant of the SMAD3 gene. Among these, TGFBR1 c.603T>G (p.1201M) and TGFB3 c.536delA (p.H179FS35) had not been reported previously.@*CONCLUSION@#Variants of the TGFBR1, TGFBR2, SMAD3, TGFB2, TGFB3 and SMAD2 genes are mainly associated with LDS. The severity of the disease phenotype caused by the same variant may vary, whilst the clinical phenotype caused by different variant sites may be specific.

Isolated metastasis of the ascending ramus of the mandible of thyroid follicular carcinoma: a case report / 临床耳鼻咽喉头颈外科杂志

The mandibular metastatic spread of carcinoma from the thyroid gland is exceedingly rare. Follicular thyroid carcinoma is the second most common type of thyroid carcinoma，accounting for approximately 10% to 15% of all thyroid cancers. The prognosis of FTC is relatively satisfactory. Due to its rich blood transport, it is easy to metastasize hematological, with the main sites of metastasis are bone and lung. However，mandibular metastasis of thyroid follicular carcinoma is rare. We report a case of thyroid follicular carcinoma that metastasized to the ascending ramus of the mandible 21 years after surgery.The operation was successfully completed, and there was no recurrence during postoperative follow-up. Due to the absence of obvious clinical symptoms in the patient, the diagnosis and treatment were challenging. We have provided detailed radiographic and pathological images to facilitate understanding and discussion of the disease.

[Automatic analysis pipeline of next-generation sequencing data].

The development of next-generation sequencing has generated high demand for data processing and analysis. Although there are a lot of software for analyzing next-generation sequencing data, most of them are designed for one specific function (e.g., alignment, variant calling or annotation). Therefore, it is necessary to combine them together for data analysis and to generate interpretable results for biologists. This study designed a pipeline to process Illumina sequencing data based on Perl programming language and SGE system. The pipeline takes original sequence data (fastq format) as input, calls the standard data processing software (e.g., BWA, Samtools, GATK, and Annovar), and finally outputs a list of annotated variants that researchers can further analyze. The pipeline simplifies the manual operation and improves the efficiency by automatization and parallel computation. Users can easily run the pipeline by editing the configuration file or clicking the graphical interface. Our work will facilitate the research projects using the sequencing technology.