Thalidomide (TD) can lead to zebrafish having various malformations, including pectoral fin bud deformities, ear malformations. It induces the degradation of protein substrates, such as ∆Np63α, TAp63α, and SALL4, thereby exerting teratogenic effects on zebrafish. The degradation of these protein substrates triggers downstream changes, including oxidative stress and anti-angiogenesis. However, the genes involved in oxidative stress and anti-angiogenesis remain unclear. Here, the authors used single-cell RNA sequencing (scRNA-seq) to assess how TD exposure affects the transcriptome diversity of 69,115 cells at 1, 2, and 5 days post-fertilization (dpf). Wide-type group data sets were obtained from the NCBI SRA database (Accession: SRP221273). The authors' analysis identified 43 cell populations, with significant alterations in the gene expression profiles of 16 of these populations. Expression of the heat shock protein family gene hsp was upregulated in several cellular subpopulations (heart, vessel, pectoral fin bud, etc.), and the heat shock protein family genes were associated with stress. A protein-protein interaction (PPI) network was constructed using STRING and Cyto-scape software, and hub genes associated with TD-induced zebrafish teratogenicity were identified through the CytoHubba plugin. These genes play crucial roles in cellular stress responses, particularly the significance of heat shock proteins (HSPs) in regulating cellular stress and protecting cell survival. Functional analysis using Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways revealed enrichment in pathways associated with endoplasmic reticulum protein processing and spliceosome. The genes her15.1 , her4.3 , and her4.4 exert an anti-angiogenic effect by modulating the Notch signaling pathway. The results obtained from RT-qPCR agreed with the sequencing data. This study constructed a single-cell transcriptomic atlas of zebrafish embryos under TD exposure through transcriptomic analysis at the single-cell level, supplementing the investigation of oxidative stress and anti-angiogenesis-related genes in TD-induced zebrafish malformations. Our research on TD, which causes cranio-maxillofacial-related malformations like ear and eye defects across multiple species, holds great significance for cranio-maxillofacial surgery.

Erfahrungen medizinischer Kompetenzzentren für Menschen mit Thalidomid-Embryopathie legen nahe, dass sturzbedingte Verletzungen vergleichsweise häufig vorkommen. Da Stürze im Alter Morbidität und Autonomieverluste begünstigen, wurden Sturz- und Frakturrisiken bei Thalidomid-Geschädigten untersucht.Onlinebefragung (Survey Monkey) zu funktionellen Einschränkungen sowie Sturzereignissen von Personen mit Thalidomid-Embryopathie (TE-Gruppe) und Nichtbetroffenen (Kontrollgruppe).206 Personen der TE-Gruppe und 183 der Kontrollgruppe wurden befragt. Einschränkungen des Hörens, des Gleichgewichtssinns, des Sehens, der Sensibilität und der Kraft waren in der TE-Gruppe signifikant häufiger als in der Kontrollgruppe. Personen der TE-Gruppe gaben signifikant häufiger Stürze und Verletzungen an als in der Kontrollgruppe.Menschen mit Thalidomid-Embryopathie haben im Vergleich zu Nichtbetroffenen häufiger Stürze mit schwerwiegenderen Verletzungen. Die Ergebnisse der vorliegenden Untersuchung verdeutlichen die Notwendigkeit einer individuellen Risikobewertung und präventiver Maßnahmen zur Sturzvermeidung in dieser Patientengruppe. The experience of medical competence centres for people with thalidomide embryopathy suggests that fall-related injuries are relatively common. As falls in old age favour morbidity and loss of autonomy, fall and fracture risks in people with thalidomide embryopathy were investigated.Online survey (Survey Monkey) on functional limitations and fall events of persons with thalidomide embryopathy (TE group) and nonaffected persons (control group).206 people in the TE group and 183 in the control group were surveyed. Hearing, balance, vision, sensitivity and strength impairments were significantly more common in the TE group than in the control group. People in the TE group reported falls and injuries significantly more frequently than those in the control group.People with thalidomide embryopathy have more frequent falls with more serious injuries than those not affected. The results of the present study reinforce the necessity of individual risk assessment and the implementation of preventive measures aimed at preventing falls in this patient group.

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.

Thalidomide embryopathy is a disorder associated with a wide range of congenital anomalies, including limb deformities, craniofacial abnormalities, and neurological impairments. Facial hyperalgesia and dental anxiety represent significant barriers to the safe and effective management of invasive dental procedures. We report a 62-year-old woman with thalidomide embryopathy, bilateral upper limb agenesis, and pronounced facial hyperalgesia, scheduled for guided bone regeneration (GBR) as part of implant-supported prosthetic treatment. Given her heightened pain sensitivity and severe dental phobia, local anesthesia alone was considered inadequate. Ultrasound-guided nerve block (USG-NB) targeting the maxillary nerve and intravenous sedation were employed. This strategy provided targeted regional anesthesia and effective anxiolysis, enabling safe and comfortable perioperative management. The procedure was completed uneventfully. The patient reported no pain during or after the procedure, and no postoperative adverse events were observed. This case illustrates the utility of USG-NB in managing complex dental procedures in patients with congenital disorders or pain hypersensitivity, offering insights for anesthetic management in comparable clinical situations.

More than 60 years after withdrawal of ConterganR (thalidomide) from the market, the issue is more relevant than ever for physicians specialised in vascular medicine and cardiology due to the age-related increased use of appropriate health services by those affected. We describe cardiovascular abnormalities of thalidomide embryopathy and point out clinically relevant features that may have a profound influence on the disease management. We also describe and discuss whether arteriosclerotic diseases and complications occur more frequently in those affected by thalidomide embryopathy than in the general population.