Prader-Willi syndrome (PWS) is a genetic disorder resulting from the absence of paternal 15q11-q13 alleles and is clinically characterised by pathological obesity, delayed satiety, hyperphagia, decreased muscle mass, and increased fat mass. Dietary management constitutes a key component in the prevention and treatment of obesity in individuals with PWS. This scoping study aimed to identify dietary interventions available for treating obesity among PWS individuals. A systematic search using the six stages of the scoping review methodology proposed by Arksey and O'Malley was conducted across four databases: PubMed, Scopus, EBSCOhost, and Cochrane Library. The inclusion criteria were full-text research articles published in English between 2017 and 2023, involving human participants with PWS, and reporting on dietary interventions for obesity management. Out of 100 articles retrieved, five studies were identified. Two studies described multidisciplinary programs integrating dietary and physical activity components, while three focused exclusively on dietary interventions. The outcomes varied by intervention and study design. Ketogenic diets and multidisciplinary programs with exercise often resulted in favourable weight and body fat reduction. However, strict diets like the modified Atkins faced adherence challenges and frequent weight regain. Multidisciplinary, supervised programs result in higher adherence and more effective weight management, with body mass index near normal. In conclusion, although research in this area remains limited, current evidence suggests that both dietary and multidisciplinary interventions have the potential to support obesity management in individuals with PWS.

CHOPS (cognitive impairment, coarse facies, heart defects, obesity, pulmonary involvement, short stature, and skeletal dysplasia) syndrome is an extremely rare disorder with multiple congenital anomalies caused by missense variants in the ALF transcription elongation factor 4 gene (AFF4). This study aimed to identify causative variants in a Chinese family with CHOPS syndrome. A Chinese girl with short stature, obesity, and developmental delay underwent comprehensive clinical and genetic evaluations, including karyotyping analysis, multiple ligation-dependent probe amplification, detection of aberrant methylation, whole exome sequencing, Sanger sequencing, and copy number variation analysis, followed by in silico analyses. Reverse transcription, polymerase chain reaction, and Sanger sequencing were performed to evaluate the gene expression levels. The patient exhibited cognitive impairment, coarse facial appearance, obesity, short stature, skeletal involvement, and ophthalmic abnormalities. Genetic analyses identified a de novo heterozygous c.778A>G (p.Met260Val) variant in AFF4 in the proband, absent in parents and little sister, with no other remarkable results. This novel variant was classified as pathogenic, without apparent effect on relative gene expression. The identification of this de novo missense variant as the genetic cause of CHOPS syndrome in this Chinese family broadens the genetic and phenotypic spectrum of the disorder.

Juvenile idiopathic arthritis (JIA) is the most common rheumatological disease in children. Besides the more severe systemic form, non-systemic JIA is divided into 5 different subgroups. Polyarticular JIA (polyJIA), particularly rheumatoid factor (RF)-positive, which is defined as the disease involving five or more joints in the first 6 months of disease, has the worst prognosis. Biologic disease-modifying antirheumatic drugs (bDMARDs), particularly tumor necrosis factor inhibitors (TNFi), are the backbone of JIA treatment regimens. This research analyzed the published articles for: i) optimal sequence, timing and outcomes; ii) comparative effectiveness of various bDMARDs; and iii) safety concerns for use of bDMARDs. For patients with polyJIA, early effective treatment with bDMARDs is associated with drug-free remission, lower disease activity, better disease control and outcomes. Adalimumab, etanercept and tocilizumab have comparable effectiveness for treating polyJIA, and these drugs are also well-tolerated. JIA patients had a higher rate of hospitalized/serious infection and malignancy compared to the general population. The use of TNFi did not seem to significantly increase this risk further when compared to using methotrexate. Patients treated with IL-1 inhibitors or IL-6 inhibitors reported significantly more serious infections, compared with patients treated with TNFi. Clinicians and patients should consider potential risk in light of benefits of bDMARDs. The reimbursement policy and pricing issue of bDMARDs are out of the scope of the present literature analysis. The current review may help inform shared decision-making discussions between families and physicians as they weigh the risks and benefits of various treatment approaches for children with JIA.

To review musculoskeletal disabilities and rehabilitation in adults with thalidomide embryopathy (TE), the authors reviewed the literature related to musculoskeletal disability, quality of life (QOL) and rehabilitation intervention in adults with TE, obtained through a PubMed search, and their experience in clinical practice with Japanese individuals. Through literature search, 25 studies were included for this review. Literature search results and the authors' experiences revealed that, in adults with TE, upper limb disabilities included neuropathy, mainly due to carpal tunnel syndrome; finger pain due to tenosynovitis; and symptoms caused by osteoarthritis, mainly in the shoulders. Disabilities of the trunk and spine included lower back and neck pain. Although disabilities in the lower limbs were uncommon, pain due to hip and knee osteoarthritis were reported. Regarding the health-related QOL in adults with TE, the physical domain of QOL was reduced, which may be related to musculoskeletal disabilities. Reports on rehabilitation approaches for secondary musculoskeletal disabilities in TE, including physical therapy, environmental modification, and alternative medicine, were scarce. This review of musculoskeletal disabilities and QOL in adults with TE revealed that pain is common in the upper limbs and spine, and is associated with reduced physical QOL.

Hereditary angioedema (HAE) is a rare, potentially life-threatening disorder characterized by recurrent, disabling episodes of subcutaneous or submucosal swelling. Lanadelumab, a monoclonal antibody targeting plasma kallikrein, is approved for long-term prophylaxis and has shown high efficacy in clinical trials. However, real-world data on its prolonged use, particularly from East Asia, remain scarce. This report evaluates 3-year clinical and patient-reported outcomes of lanadelumab prophylaxis in two Japanese patients with HAE type I. Both male patients (in their 30s and 70s) received subcutaneous lanadelumab, 300 mg, every 2 weeks, later extended to every 4 weeks following disease stabilization. Clinical efficacy was assessed by attack frequency. Patient-reported outcomes (PROs) included the Angioedema Control Test (AECT), Angioedema Quality of Life Questionnaire (AE-QoL), Hospital Anxiety and Depression Scale (HADS), and Treatment Satisfaction Questionnaire for Medication (TSQM-9). Safety and tolerability were also monitored. Both patients achieved complete or near-complete elimination of HAE attacks during the 156-week follow-up. AECT scores reached the maximum of 16 by week 12 and remained stable. AE-QoL scores improved by approximately 30 points, reflecting sustained quality-of-life benefits. HADS-Anxiety scores declined into the normal range, indicating reduced anticipatory anxiety. TSQM-9 global satisfaction remained above 90 out of 100, and no serious adverse events occurred; one patient experienced mild transient injection-site swelling. This case series presents the longest real-world follow-up of lanadelumab in East Asia. Findings confirm its sustained efficacy, safety, and psychosocial benefits, including enhanced quality of life and emotional recovery. These findings suggest that lanadelumab may play an important role in the long-term management of HAE in Asian clinical settings.

X-linked nephrogenic diabetes insipidus (X-NDI) is a rare congenital disease caused by inactivating mutations of the vasopressin type-2 receptor (AVPR2), characterized by impaired renal concentrating ability, dramatic polyuria, polydipsia and risk of dehydration. This study aims to elucidate the pathogenic mechanisms associated with a novel variant in the AVPR2 gene, which has been implicated in X-NDI. Whole exome sequencing (WES) was employed to identify genetic variants, complemented by bioinformatic analyses to predict the functional impact of these mutations. A male patient, aged 11.5 years, presented with polydipsia, polyuria, rapid weight gain, and associated physical anomalies, alongside hormonal imbalances and elevated serum sodium and chloride levels. Notably, WES revealed a hemi variant in the AVPR2 gene (NM_000054.6:exon3:c.245G>A(p. Cys82Tyr)), classified as a variant of uncertain significance. The findings indicate that a combined pharmacological approach can effectively manage X-NDI symptoms without significant side effects, suggesting a favorable prognosis for the patient. After hydrochlorothiazide for one month, both serum sodium and chloride recovered a normal level. This study highlights the importance of early diagnosis and personalized treatment strategies in enhancing patient outcomes. Future research should focus on expanding genetic testing within the population to further elucidate the genetic underpinnings of X-NDI and explore the potential for targeted therapies, ultimately improving the management of this challenging condition. This newly identified mutation expands the spectrum of mutations in X-NDI.

This systematic review compares inflammatory bowel disease (IBD) management between China and Japan across epidemiology, clinical strategies, health insurance, and social security policies. Epidemiologically, the incidence of IBD is rapidly increasing in China, contributing to a growing disease burden. In contrast, Japan has a stabilized incidence but a rising prevalence, driven by an aging patient population. Clinically, step-up therapy remains the mainstream approach in China, limited by regional and financial disparities in biologic access. In contrast, Japan, benefiting from the "Designated Intractable Diseases" program, favors early intensive therapy with a focus on mucosal healing. In the area of precision medicine, China is advancing rapidly in therapeutic drug monitoring (TDM) for anti-TNF agents. In contrast, Japan leads in AI-assisted endoscopic assessment, despite slower adoption of TDM. Japan's comprehensive insurance covers most costs of IBD; China has significantly reduced drug prices via national negotiations, and yet reimbursement rates vary regionally. China has made progress in telemedicine and standardized fecal microbiota transplantation (FMT); Japan excels in AI endoscopy and use of an elemental diet. To optimize IBD care in the Asia-Pacific, China should enhance access to advanced therapies, implement hierarchical diagnosis/treatment, and develop multi-tiered insurance. Japan must address aging-related challenges and insurance sustainability while expanding use of TDM. Sino-Japanese collaboration in genetics, microbiome research, and AI-driven diagnostics, supported by sustained policy dialogue, is key to advancing precision IBD care and shaping a scalable "Asian model" for chronic disease management.

This study examined the efficacy of a Mindfulness-Based Cognitive Behavioral Group Program (MCBGP) designed to improve the mental health of patients with intractable diseases. Adults (n = 35) with such diseases participated in the study. They were categorized into a high- or low-depression group based on the Profile of Mood States (POMS) depression subscale score of 60 as the cutoff score. MCBGP was conducted monthly over three sessions, each session lasting 120 minutes. Each session consisted of psychoeducation, self-disclosure, and mindfulness meditation. The program outcomes were evaluated using the Stanford University Chronic Disease Self-Management Questionnaire, the POMS, and the World Health Organization Quality of Life instruments. The results showed that in the high-depression group (n = 11), health distress (p = 0.013), activity limitations (p = 0.022), depression (p < 0.001), anxiety/tension (p = 0.002), anger/irritability (p = 0.004), fatigue (p = 0.023), and confusion (p = 0.033) were significantly reduced. The total quality of life scores were significantly improved (p = 0.028) after the program, whereas no significant improvements were observed in the low-depression group (n = 24). It was concluded that the MCBGP was effective in improving mental health outcomes and enhanced the quality of life in patients with intractable diseases and comorbid depression.

Disorders of sex development (DSDs) encompass a spectrum of congenital conditions characterized by discordance among chromosomal, gonadal, and anatomical sex. Advances in genetic and molecular technologies have elucidated a complex landscape of underlying etiologies, including mutations in genes regulating sex determination and differentiation, copy number variations, and epigenetic alterations. These discoveries have not only enhanced diagnostic accuracy but also deepened our understanding of the molecular mechanisms driving DSDs. This review provides a comprehensive overview of the genetic architecture in DSDs, with a focus on key regulatory genes and their network interactions. We also highlight emerging concepts in the field, such as oligogenic inheritance and regulatory genomic elements, and discuss implications for personalized diagnosis, classification, and therapeutic strategies. By integrating recent advances from both clinical and basic research, this review aims to offer a framework for future investigations and translational applications in the management of DSDs.

Renal oncocytomas are benign renal tumours characterized by a central stellate scar that are indistinguishable on CT/MR imaging from malignant chromophobe renal cell carcinomas (ChrRCCs). Renal oncocytomas and ChrRCCs can be separate entities but can also co-exist on a spectrum in hybrid oncocytic/chromophobe tumours. In the past, invasive biopsy and pathologic diagnosis has been relied on to differentiate these lesion and direct management. Early research demonstrates the effectiveness of technetium 99m sestamibi (99mTc-sestamibi) single-photon emission computed tomography (SPECT)/CT in differentiating benign versus malignant renal tumours. A new diagnostic algorithm has previously been proposed to reduce unnecessary biopsy and/or targeted therapy in managing enhancing 1-4 cm renal masses by incorporating 99mTc-sestamibi SPECT/CT in management. We present a case of suspected renal oncocytoma found incidentally on surveillance imaging post-treatment of uveal melanoma. We illustrate the incorporation of the proposed diagnostic algorithm using 99mTc-sestamibi SPECT/CT for enhancing 1-4 cm renal masses into the existing diagnostic algorithm for incidental renal masses and demonstrate its use in our case of suspected renal oncocytoma.

Rare skin diseases in China, recognized through the 2018 National Rare Disease List (121 conditions), pose substantial epidemiological and systemic challenges. The National Rare Diseases Registry System (NRDRS) documented 62,590 cases (2016–2020) of 166 diseases, and yet data remain fragmented: only 53.1% of rare diseases are prevalent and they are found in 94.1% of regions. Eight diseases have an incidence of ≥ 1/1,000. Regional disparities persist, as 60% of cases originate from affluent East/North China, contrasting with lower utilization of genetic testing in Western regions (71.9% vs. 79.2% in the East). Diagnostic delays average 1.4 years, with patients visiting 3.2 hospitals and enduring 1.6 misdiagnoses, exacerbated by limited physician awareness — only 5.3% of clinicians report moderate familiarity with rare diseases. Therapeutic advances, including B cell-targeted therapies (e.g., rituximab), coexist with barriers like orphan drug affordability, exemplified by projected annual budgets exceeding CNY 179 million for 98 patients. Clinical trials increased at a rate of 28.2% annually (2013–2022), yet China lags behind its global counterparts in trial diversity. Policy initiatives, such as the 2019 Drug Administration Law, prioritize orphan drug development but face challenges in regional implementation and insurance coverage. Critical needs include equitable healthcare access, standardized registries, and clinician education. Collaborative networks (e.g., NRDRS-linked biobanks) and media-driven awareness campaigns are vital to alleviating systemic gaps for China's estimated 20 million patients with rare diseases.