This case report sheds light on the complex management of hemihyperplasia (HHP), highlighting the difficulties associated with diagnosis and the critical importance of a multimodal approach to treatment. The story of Acharya Vinoba Bhave Rural Hospital\'s (AVBRH) successful resolution following a misdiagnosis at another clinic emphasizes the value of expert care. The successful outcome resulted from the fusion of surgical innovation, genetic insights, and psychosocial factors through genetic testing, liposuction, and postoperative rehabilitation. This example emphasizes the need to treat congenital illnesses holistically and the transforming power of individualized, multidisciplinary treatment to improve the functional and esthetic elements of life for patients with HHP.

Desmosterolosis is a rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, severe developmental delay, progressive epileptic encephalopathy, and elevated levels of desmosterol caused by biallelic mutations of DHCR24 encoding 3-β-hydroxysterol Δ-24-reductase. DHCR24 is regarded as the key enzyme of cholesterol synthesis in the metabolism of brain cholesterol as it catalyzes the reduction of the Δ-24 double bond of sterol intermediates during cholesterol biosynthesis. To date, 15 DHCR24 variants, detected in 2 related and 14 unrelated patients, have been associated with the desmosterolosis disorder. Here, we describe a proband harboring the never-described DHCR24 homozygous missense variant NM_014762.4:c.506T>C, NP_055577.1:p.M169T, whose functional validation was confirmed through biochemical assay. By using molecular dynamics simulation techniques, we investigated the impact of this variant on the protein stability and interaction network with the flavin adenine dinucleotide cofactor, thereby providing a preliminary assessment of its mechanistic role in comparison to all known pathogenic variants, the wild-type protein, and a known benign DHCR24 variant. This report expands the clinical and molecular spectra of the DHCR24-related disorder, reports on a novel DHCR24 deleterious variant associated with desmosterolosis, and gives new insights into genotype-phenotype correlations.

Medical genetics is a basic medical course that discusses the diagnosis, prevention and treatment of diseases in relation with genetic factors. This course requires students who have abilities of strong logical thinking, independent thinking, problem analyzing and solving. Single \"cramming\" teaching is difficult to mobilize students\' autonomous learning, and hardly achieves teaching effect of medical genetics. Teaching of case-based discussion breaks passive teaching mode in traditional class. The teacher throws out typically clinical cases. The students prepare materials around relevant problems of cases, and carry out class discussion. Then, key and difficult points of the course are integrated in teaching and learning interaction, which reaches a remarkable effect of teaching. Since 2013, the teaching and research group has carried out teaching of case-based discussion in undergraduates majoring in clinical medicine. In this paper, we screen and sort clinical cases on the basis of course teaching plan and case-based discussion in the teaching of medical genetics. The cases are summarized into 8 chapters in teaching case base, which basically cover the teaching of disease genetics and clinical genetics.The construction of teaching case base in medical genetics has realized the deep integration of clinical cases and teaching. Students can understand and master important and difficult points of teaching in a more intuitive way, which is helpful to stimulate students\' innovative thinking, improve students\' learning interest and class participation.
医学遗传学是探讨遗传因素相关疾病的诊断、预防与治疗的基础医学类课程，本门课要求学生具备较强的逻辑思维，有独立思考和分析解决问题的能力。单一的“填鸭式”课堂教学很难调动学生的自主学习，无法达到医学遗传学的教学效果。案例研讨式教学打破了被动的传统教学模式，教师给出临床典型案例，学生围绕案例的相关问题准备材料，主动展开课堂讨论，以教与学互动的方式融汇贯通了本门课程的重点与难点，教学效果显著。自2013年起，本教研组针对临床医学本科生开展了案例研讨式教学。本文根据课程的教学计划和案例研讨式教学的实际情况，筛选并分类整理了所收集的临床案例资料，分章节归纳汇编了8个章节的教学案例库，基本涵盖了疾病遗传学与临床遗传学的教学重难点。医学遗传学教学案例库的建设实现了临床案例与教学的深度融合，学生以更为直观的方式理解掌握教学重难点，有助于激发学生的创新思维，提高学生的学习兴趣与课堂参与度。.

Medical genetics, which is a frontier subject in biomedicine, is the clinical core of gene diagnosis and gene therapy. In the training of medical students, medical genetics plays an important role in bridging basic medicine and clinical medicine. In recent years, problem-based learning (PBL) has been widely used in medical education as an important method to cultivate the autonomous learning ability of medical students. In the current study, we designed and shared the research on brachydactyly type A2 (BDA2) as the main case of PBL teaching, in order to guide the students towards autonomous learning, and to cultivate independent analysis and problem solving ability instead of simple knowledge acquisition. Such excellent academic teaching will provide more high quality medical talents and internationally competitiveness for constructing a healthy China.
医学遗传学是生物医学中的前沿学科，也是临床基因诊断和基因治疗的核心内容。在医学人才培养中，医学遗传学扮演着衔接基础医学与临床医学的重要角色。近年来，基于问题的学习(problem-based learning，PBL)作为培养医学生自主学习能力的重要方法，在医学教育中得到了广泛的应用。本文设计并分享了以A2型短指(趾)症(brachydactyly type A2，BDA2)研究为核心的PBL教学案例，以期引导学生自主学习，以能力培养代替知识传授，培养学生独立分析和解决问题的能力以及创新性思维的卓越学风，为健康中国建设输送更多具有国际竞争力的高素质医学人才。.

Cancer is the second leading cause of death worldwide, with 70% of cancer deaths occurring in low- or middle- income countries. To mitigate the mortality of this disease, it is recommended the evaluation of multiple high-penetrance genes.
We used a multi-gene panel testing to identify germline variants in a unique case of a breast cancer patient with a family history of five different neoplasm types. The patient, at the age of 50 years, was diagnosed with a high-grade cribriform ductal carcinoma in situ in her left breast.
We identified two heterozygous mutations, one classified as pathogenic/likely pathogenic in RAD50 and the other classified as a variant of uncertain significance (VUS) in ATM.
In conclusion, the use of the multi-gene panel leads to the identification of a double heterozygous mutation in RAD50 and ATM in a breast cancer patient from a Peruvian family with several cancer types. This data helps our physician team and the patient to choose a treatment following the post-test genetic counseling.

Pathogenic variants in the SCN1A gene are associated with a spectrum of epileptic disorders ranging in severity from familial febrile seizures to Dravet syndrome. Large proportions of reported pathogenic variants in SCN1A are annotated as missense variants and are often classified as variants of uncertain significance when no functional data are available. Although loss-of-function variants are associated with a more severe phenotype in SCN1A, the molecular mechanism of single nucleotide variants is often not clear, and genotype-phenotype correlations in SCN1A-related epilepsy remain uncertain. Coding variants can affect splicing by creating novel cryptic splicing sites in exons or by disrupting exonic cis-regulation elements crucial for proper pre-mRNA splicing. Here, we report a novel case of Dravet syndrome caused by an undescribed missense variant, c.4852G>A (p.(Gly1618Ser)). By midigene splicing assay, we demonstrated that the identified variant is in fact splice-affecting. To our knowledge, this is the first report on the functional investigation of a missense variant affecting splicing in Dravet syndrome.

As the clinical applications of medical genetics and genomics continue to expand, nongenetics professionals increasingly find themselves in the position of managing patients with genetic conditions. To prepare medical students to handle this future practice demand, it is imperative that they obtain skills and confidence in utilizing credible medical genetics resources to care for patients with genetic conditions. To this end, we developed active learning materials to introduce first-year medical students to these resources.
This approximately 2-hour session targeted first-year medical students (123 students) and combined flipped classroom and small-group collaborative case-based learning models. Students first completed a hands-on preclass exercise, which guided them in navigating the Online Mendelian Inheritance in Man website, and then attended an in-person small-group classroom activity, which provided the opportunity to apply information obtained from credible medical genetics resources to a patient case. At the conclusion of the classroom activity, students voluntarily completed an anonymous survey.
Results of student postsession surveys showed that, regardless of previous exposure to medical genetics resources, this session increased both confidence in skills and future intention to use medical genetics resources.
Since the majority of students were unfamiliar with using specialized medical genetics resources prior to this educational intervention, the session functioned as a practical introduction to these essential resources. We propose that equipping medical students with skills that support inquiry-oriented learning, particularly in the early stage of training, can cultivate the practice of lifelong learning in medical genetics.

In this essay, an infant with multiple fractures is removed from the custody of her parents because of suspected child abuse. Subsequently studies reveal that the child has osteogenesis imperfecta, type III. Though the child is eventually returned to the mother\'s custody, her entire first year has been spent in foster care. The essay illustrates the toll taken on families when a diagnosis of OI is missed or delayed.