TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities. Multi-omics analysis including genomics, transcriptomics, and proteomics, together with muscle biopsy from the affected individual, were used in this clinical case. Through trio exome sequencing we identified two heterozygous variants in the TECPR2 gene, NM_014844.4: c.480G>A; p.(Gln160=) and c.2846C>A; p.(Ala949Glu). Both were classified as variants of uncertain significance due to the lack of supporting evidence for pathogenicity. Subsequent long-read sequencing phased the variants and confirmed they were in trans. Additional functional studies using RNAseq and proteomics analyses verified the pathogenicity of the variants. This case study demonstrated the value of a multi-omics assisted analysis, which complemented the traditional phenotype-first approach in reaching a definitive clinical diagnosis.

BackgroundLipedema is a chronic and progressive disorder of subcutaneous adipose tissue that predominantly affects women and is frequently misdiagnosed as obesity, lymphedema, or venous disease. Increasing evidence indicates that lipedema represents a systemic vascular-lymphatic-inflammatory disorder rather than a cosmetic or metabolic condition. Delayed diagnosis often results in progressive fibrosis, lymphatic dysfunction, chronic pain, and functional impairment.ObjectiveThis review aims to present a structured, clinically applicable framework for the diagnosis and multimodal management of lipedema within phlebology practice, with an emphasis on stage-specific assessment and integrated therapeutic strategies.MethodsA narrative clinical review of peer-reviewed literature in phlebology, vascular medicine, lymphatic disorders, and adipose tissue pathology was conducted. Diagnostic criteria, clinical staging, and differential diagnostic features were synthesized into a practical, stage-based framework. A multilayer therapeutic approach targeting inflammation, lymphatic function, adipose tissue pathology, extracellular matrix remodeling, and post-treatment rehabilitation is proposed.ResultsAccurate diagnosis of lipedema relies primarily on clinical evaluation, including pain assessment, tissue palpation, characteristic fat distribution, and exclusion of lymphedema and simple obesity. Early-stage identification enables effective intervention focused on inflammation control and lymphatic unloading, potentially preventing irreversible fibrosis. Advanced stages require targeted adipose tissue interventions, fibrosis management, and structured rehabilitation to preserve mobility and quality of life.ConclusionLipedema should be recognized as a systemic vascular-lymphatic-inflammatory disorder within phlebology practice. Early diagnosis and implementation of a structured, stage-specific multimodal treatment framework may significantly alter disease progression and reduce the risk of long-term disability.

Obesity in school-aged children is an increasing health problem, one of which is due to the consumption of unhealthy snacks. The development of nutritious and healthy snacks is needed, one of which is the cempedak (Artocarpus integer) seed-based crispy noodle snack (Mijipe), which contains protein, fiber, and antioxidants that are beneficial to children's health. This study aimed to analyze the physicochemical, sensory, and protein digestibility of crispy cempedak seed-based noodles. Five crispy noodle formulations were substituted with cempedak seed flour at 0%, 15%, 20%, 25%, and 30%, as well as shrimp, anchovy, and seaweed flavor variations. The crispy noodles were evaluated for their proximate composition, color, texture, and sensory as well as protein digestibility (in vitro tests). The addition of 30% cempedak seed flour significantly increased dietary fiber, protein, fat, ash, and water content (p < 0.05), compared to the control. Carbohydrate content and total energy decreased by 77.28% and 279.23 kcal in formula 30%, compared to the control. The brightness and texture significantly decreased as the proportion of cempedak seed flour increased. Formula 25% cempedak seeds was the favorable formula based on the balance of nutritional and sensory values. Based on flavored variants, protein digestibility was highest for seaweed (43.03%) and lowest for anchovy (33.39%). Overall, cempedak seed-based crispy noodle snacks may be a healthy alternative for schoolchildren that can help overcome the problem of childhood obesity, with high fiber content, low calories, and a favorable taste. PRACTICAL APPLICATIONS: This study developed a crispy noodle snack made from cempedak seeds that can be used as an alternative healthy snack, especially for school-age children. Its high fiber content and low calories make this product a potential nutritious snack made from Indonesian local food that can be mass-produced and marketed to support children's healthy lifestyles.

The objective of this retrospective register-based study among 534 patients undergoing lumbar discectomy was to identify larger classes with different functional profiles. Main statistical method was latent class analysis. The mean age was 46.0 (17.8) years. Based on the distribution of 10 domains of functioning included in Oswestry Disability Index, four latent classes were identified: 'no or mild disability' (26% of the sample); 'moderate restrictions in sitting and traveling' (26%); 'moderate restrictions in standing and lifting and severe pain' (19%); and 'severe disability in most of the domains' (30%). Female sex (49 vs. 37%), obesity (48 vs. 28%), older age (63 vs.42%), greater pain severity (73-83 vs. 59-65%), and longer preoperative pain (27 vs. 20%) were associated with a higher likelihood of classification into a severe disability class. The results show that the functional difficulties of patients undergoing lumbar discectomy are not evenly distributed in the same way across individuals and are not simply a matter of variation at the individual level. It seems that there are larger classes whose disability domains are distributed in a different way than other classes. Belonging to a particular class can potentially be predicted by descriptive factors such as sex, age, pain intensity and pain history. This information can help identify risks that predict particularly severe disability and recognize the most common functional limitations that may be overlooked if all the patients are treated as a homogeneous group and the severity of disability is described by only one composite score.

This study evaluated whether meal replacement products offer superior weight loss and metabolic benefits compared to traditional dietary control in Chinese adults with obesity, given the limitations of traditional weight loss methods. Obese patients were randomized to a meal replacement group (MRG, n = 56) or a dietary control group (DCG, n = 48); the MRG consumed formulated products in place of dinner while the DCG were asked to follow traditional methods of restricting energy intake, such as reducing staple food at lunch, both targeting 1200-1300 kcal per day. Body composition and metabolic indicators were assessed at the baseline, 45 and 90 days. At 90 days, both groups showed significant improvements in weight, BMI and body fat percentage (P < 0.001), but the MRG demonstrated significantly greater reductions versus the DCG in weight (-3.81 kg, 95%CI: -5.58, -2.03 kg), BMI (-1.35 kg m-2, 95%CI: -2.01, -0.68 kg m-2) and body fat percentage (-2.15%, 95%CI: -2.94, -1.35%), with sensitivity analyses confirming these findings. The MRG also showed advantages in blood pressure and lipid profiles. Meal replacement represents an effective and practical weight management strategy for Chinese adults with obesity, offering clinically meaningful improvements in adiposity and metabolic health compared to conventional dietary approaches and supporting wider clinical implementation.

Classic congenital adrenal hyperplasia (CCAH) is an autosomal recessive genetic disorder primarily caused by 21-hydroxylase deficiency. Although the survival rate of patients has significantly improved with glucocorticoid replacement therapy, long-term use of supraphysiological doses and multiple factors inherent to the disease itself have led to obesity becoming a common metabolic complication in CCAH patients. The mechanism of obesity in CCAH patients is complex and involves multiple factors related to both treatment and the disease itself. This article provides a narrative review of the incidence, influencing factors, related complications and treatment management strategies of obesity in CCAH patients, with the aim of offering comprehensive management recommendations for clinical practice.