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In recent years, with the development of gene testing and new drug research, the diagnosis and treatment of inherited diseases have made rapid progress, corresponding to higher requirements for genetics education. As a teacher of medical genetics, the author joined the course remodeling during last 10 years from a web-based study of genetic disorders to a “case-based learning” supported by flipped classroom in order to optimize teaching effects and learning outcomes. The result of this remodeling project proposes a new strategy to guide perspectives course design in future.

This study presents a case of a girl of three year and 4 month old with ataxia and severe sensorineural hearing loss for 2 years. In order to improve hearing, she was hospitalized in the PUMC Hospital. Genetic testing performed found compound heterozygous variants of c.1186C > T(p.P396S) and c.1357C > T(p.R453W) in TWNK gene. After a multidisciplinary discussion of the case, the team suspected mitochondrial DNA depletion syndrome type 7(hepatocerebral type). The patient has shown nervous system impairment involvement but no evidence of liver dysfunction. The efficacy of cochlear implantation is uncertain and general anesthesia if applied will accelerate the progress of encephalopathy and might lead to multiple organ failure. Unsure of the perioperative safety, the parents of the girl did not chose the option of hearing intervention temporarily, but chose oral symptomatic supportive treatment with coenzyme Q10, folate, levocarnitine, and complex vitamins as recommended.

Primary ciliary dyskinesia (PCD) is a rare monogenic disorder primarily associated with structural and functional abnormalities of motile cilia. It is typically inherited in an autosomal recessive pattern. The disease affects multiple organs, and the variability in clinical phenotypes, along with genetic heterogeneity significantly complicates its diagnosis. Although the application of clinical exome sequencing has significantly improved the diagnostic rate of PCD, more than 30% of patients are still unable to obtain a definitive diagnosis. This article reviews and discusses the pathogenesis, diagnostic methods, and expanding genetic diagnostic approaches for patients with PCD that are negative for exome sequencing. The aim of this article is to assist clinicians in selecting more advanced emerging genetic testing technologies, with the hope of increasing the positive diagnostic rate of PCD, deepening the understanding of its genetic pathogenesis, and laying a foundation for the practice of gene therapy in the future.

The diagnosis and treatment of rare diseases have long been significant challenges in the medical practice. With the rapid development of genomics and genetics, medical genetics has been widely applied in the diagnosis and treatment of rare diseases. Systematic medical genetics training courses are essential for enhancing the professional level of clinicians in diagnosing and treating rare diseases. This paper aims to analyze the current status of medical genetics training, discuss the principles and methods of curriculum design, and propose strategies to optimize training effectiveness, in order to enhance their comprehensive capabilities in the diagnosis and treatment of rare diseases.

Objective To characterize the clinical features and to identify the pathogenic variants in two Chinese patients with primary ciliary dyskinesia (PCD). Methods The clinical data and peripheral blood sample from the patients were collected, and genomic DNA was subsequently extracted from the peripheral blood. Candidate pathogenic variants were identified using whole exome sequencing (WES) and further confirmed by Sanger sequencing technology. Finally, the pathogenicity of the variants was predicted through bioinformatic analysis. Results Two Chinese patients with PCD had diffuse bronchiectasis cpmlicated with recurrent infection and the decreased level of nasal nitric oxide (nNO). WES results showed that both patients carried frameshift mutations in known pathogenic genes of PCD. Patient 1 carried a homozygous variant in outer dynein arm docking complex subunit 1 (ODAD1) (NM_144577): c.702_705dupGCAG (p.P236Afs*11) and patient 2 carried a hemizygous variant in dynein axonemal assembly factor 6 (DNAAF6) (NM_173494): c.532_533delCT (p.L178Sfs*2). Neither variant had been recorded in The Human Gene Mutation Database (HGMD). Both frameshift variants caused changes in the open reading frame, which resulted in premature termination codon. According to the American College of Medical Genetics and Genomics (ACMG) guidelines, c.702_705dupGCAG in ODAD1 was categorized as a pathogenic variant (PVS1+PM2+PM3+PP4) and c.532_533delCT in DNAAF6 was categorized as a pathogenic variant (PVS1+PM2+PM3+PP4). Conclusions The novel variants c.702_705dupGCAG found in ODAD1 and c.532_533delCT found in DNAAF6 are pathogenic and support their PCD diagnosis for the two patients, respectively. These results may enrich the mutation spectrum of the ODAD1 and DNAAF6.

The Ehlers-Danlos syndrome(EDS)is a rare inherent connective tissue disorder. The prevalence of EDS in the population is estimated at one out of ten thousand to one out of a hundred thousand. The vascular EDS(vEDS) are rare among the subtypes but are the worst in prognosis. The article reports a case of vEDS admitted to the hospital. The patient was a young man complaining of a sudden onset of aphasia in right hemiparalysis and severe left abdominal pain for unknown reasons. The diagnosis was made after the genetic testing. The patient suffered from vEDS. Then, the multi-disciplinary team(MDT)made a treatment plan tailored to this young patient. The complexity in classification and delusive presentations of the EDS make the correct diagnosis very challenging. This article hopes to report this case and to share the experiences to the better understanding of this disease.

[Objective] This study aimed to reveal the reasons of different varieties for sweet cherry's storability and provide theoretical support and technical guidance for edible coating in its postharvest preservation. [Methods] Four representative sweet cherry varieties （Red Light, Rainey, Red Agate, and Friendship） were selected as research objects. The surface morphology of different varieties of sweet cherry skin, the contact angle of skin to different solutions, the changes of surface morphology, contact angle and critical surface tension of Red Agate sweet cherry during storage were investigated. [Results] There were differences in the distribution and morphology of wax on the epidermal of the four varieties of sweet cherry, and the contact angle of the skin to the same solution was significantly different. The wax content of the Red Agate epidermis decreased during storage. Due to the hydrophobicity of sweet cherry skin, adding Tween-20 as a surfactant to the coating liquid can significantly improve its surface wettability. The contact angle of the Red Agate epidermis to deionized water decreased during storage, and the critical surface tension increased with the extension of storage time. [Conclusion] The storability of different varieties of sweet cherries may be correlated with their skin characteristics. Adding 0.1% Tween-20 to the coating solution can make the solution more evenly coated on the surface of the sweet cherry.

Tuberous sclerosis complex(TSC)is a rare genetic disease that can lead to benign dysplasia in multiple organs such as the skin, brain, eyes, oral cavity, heart, lungs, kidneys, liver, and bones. Its main symptoms include epilepsy, intellectual disabilities, skin depigmentation, and facial angiofibromas, whilst incidence is approximately 1 in 10 000 to 1 in 6000 newborns. This case presents a middle-aged woman who initially manifested with epilepsy and nodular depigmentation. Later, she developed a lower abdominal mass, elevated creatinine, and severe anemia. Based on clinical features and whole exome sequencing, the primary diagnosis was confirmed as TSC. Laboratory and imaging examinations revealed that the lower abdominal mass originated from the uterus. CT-guided biopsy pathology and surgical pathology suggested a combination of leiomyoma and abscess. With the involvement of multiple organs and various complications beyond the main diagnosis, the diagnostic and therapeutic process for this patient highlights the importance of rigorous clinical thinking and multidisciplinary collaboration in the diagnosis and treatment of rare and challenging diseases.

The importance of the opportunity to learn (OTL) for mathematics achievement has been extensively researched. However, there were still unanswered questions regarding OTL's measurement, analytical level, and relationship with motivational beliefs. To fill in the gaps, we aimed to (1) scrutinize the reliability and validity of OTL, (2) investigate the multilevel nature of OTL, and (3) explore the relationship among OTL, self-efficacy, and mathematics achievement. We used Programme for International Student Assessment (PISA) 2012 data provided by 470,745 15-year-old students from 63 economies. Psychometric analyses and doubly latent multilevel structural equating modeling were conducted. Results indicated that (1) OTL measured by familiarity with mathematical concepts displayed high reliability and validity, (2) student-reported OTL exhibited high reliability at the school-level, (3) OTL significantly predicted achievement both at student- and school-level, and (4) OTL mediated the relationship between self-efficacy and mathematics achievement at student-level. Theoretical and practical implications are discussed.

Background: As a complex cognitive task, integrated writing (IW) requires not only different language modalities but also persistent cognitive effort. In practice, varied language modalities are taught together with IW tasks. However, little research has been done to investigate independent and integrated language tasks simultaneously. In addition, the need for cognition (NfC), which plays an important role in cognitive processing, has not been explored in the context of IW. Aims: The present study aims to investigate the influence of different language modalities (i.e., reading and writing) on IW performance and how NfC moderates this influence. Sample: A total of 246 Secondary Four students from three schools in Hong Kong. Methods: Measures of reading, writing, NfC and IW performance were obtained. Structural equation modelling was used to explore the relationships between reading, writing and IW and investigate the role of NfC. Results: Positive effects of reading and writing on IW performance were observed, and writing played a mediating role in the relationship between reading and IW at the same time. Although NfC negatively moderated the influence of reading on IW, it had no moderating effect on the influence of writing on IW. Conclusions: The teaching of different language modalities enhances IW performance. The negative moderating effect of NfC on the relationship between reading and IW performance implies that differentiated instruction is required due to individual differences in the influence of reading on IW. Regarding pedagogical implication, teachers should integrate the teaching of reading and writing and focus on cultivating students' cognitive needs to enhance their IW performance.