Use of the duplication range concept for understanding morphology and predicting prognosis in thumb polydactyly

This study systematically and comprehensively analysed 129 thumb polydactylies in 122 patients using a duplicating range concept based on the level of skin and skeletal bifurcation. Numerical levels were defined along the longitudinal axis of the ulnar thumb duplicate from distal to proximal: level 0 (thumb tip) to level 6 (carpometacarpal joint). The relationships between duplication range and morphological parameters were evaluated. Nail asymmetry was associated with skin bifurcation levels 0 to 2. Proximal phalangeal asymmetry and interphalangeal joint deviation, associated with skin bifurcation levels were assigned scores of 1 to 2.5 and 1 to 2, respectively. Metacarpophalangeal joint deviation had a bimodal distribution, at levels 1.5 and 4 of the longitudinal axes. Morphological similarity was found in patients with the same duplication range. The duplication range concept could potentially improve our understanding of morphology variation and predicting prognoses in thumb polydactyly

Integrative Annotation of 21,037 Human Genes Validated by Full-Length cDNA Clones

The human genome sequence defines our inherent biological potential; the realization of the biology encoded therein requires knowledge of the function of each gene. Currently, our knowledge in this area is still limited. Several lines of investigation have been used to elucidate the structure and function of the genes in the human genome. Even so, gene prediction remains a difficult task, as the varieties of transcripts of a gene may vary to a great extent. We thus performed an exhaustive integrative characterization of 41,118 full-length cDNAs that capture the gene transcripts as complete functional cassettes, providing an unequivocal report of structural and functional diversity at the gene level. Our international collaboration has validated 21,037 human gene candidates by analysis of high-quality full-length cDNA clones through curation using unified criteria. This led to the identification of 5,155 new gene candidates. It also manifested the most reliable way to control the quality of the cDNA clones. We have developed a human gene database, called the H-Invitational Database (H-InvDB; http://www.h-invitational.jp/). It provides the following: integrative annotation of human genes, description of gene structures, details of novel alternative splicing isoforms, non-protein-coding RNAs, functional domains, subcellular localizations, metabolic pathways, predictions of protein three-dimensional structure, mapping of known single nucleotide polymorphisms (SNPs), identification of polymorphic microsatellite repeats within human genes, and comparative results with mouse full-length cDNAs. The H-InvDB analysis has shown that up to 4% of the human genome sequence (National Center for Biotechnology Information build 34 assembly) may contain misassembled or missing regions. We found that 6.5% of the human gene candidates (1,377 loci) did not have a good protein-coding open reading frame, of which 296 loci are strong candidates for non-protein-coding RNA genes. In addition, among 72,027 uniquely mapped SNPs and insertions/deletions localized within human genes, 13,215 nonsynonymous SNPs, 315 nonsense SNPs, and 452 indels occurred in coding regions. Together with 25 polymorphic microsatellite repeats present in coding regions, they may alter protein structure, causing phenotypic effects or resulting in disease. The H-InvDB platform represents a substantial contribution to resources needed for the exploration of human biology and pathology

sj-jpg-4-jhs-10.1177_17531934221126864 - Supplemental material for Use of the duplication range concept for understanding morphology and predicting prognosis in thumb polydactyly

Supplemental material, sj-jpg-4-jhs-10.1177_17531934221126864 for Use of the duplication range concept for understanding morphology and predicting prognosis in thumb polydactyly by Susumu Saito, Aiko Makino, Hiroki Yamanaka, Itaru Tsuge and Naoki Morimoto in Journal of Hand Surgery (European Volume)</p

sj-jpg-2-jhs-10.1177_17531934221126864 - Supplemental material for Use of the duplication range concept for understanding morphology and predicting prognosis in thumb polydactyly

Supplemental material, sj-jpg-2-jhs-10.1177_17531934221126864 for Use of the duplication range concept for understanding morphology and predicting prognosis in thumb polydactyly by Susumu Saito, Aiko Makino, Hiroki Yamanaka, Itaru Tsuge and Naoki Morimoto in Journal of Hand Surgery (European Volume)</p

sj-jpg-3-jhs-10.1177_17531934221126864 - Supplemental material for Use of the duplication range concept for understanding morphology and predicting prognosis in thumb polydactyly

Supplemental material, sj-jpg-3-jhs-10.1177_17531934221126864 for Use of the duplication range concept for understanding morphology and predicting prognosis in thumb polydactyly by Susumu Saito, Aiko Makino, Hiroki Yamanaka, Itaru Tsuge and Naoki Morimoto in Journal of Hand Surgery (European Volume)</p

sj-jpg-1-jhs-10.1177_17531934221126864 - Supplemental material for Use of the duplication range concept for understanding morphology and predicting prognosis in thumb polydactyly

Supplemental material, sj-jpg-1-jhs-10.1177_17531934221126864 for Use of the duplication range concept for understanding morphology and predicting prognosis in thumb polydactyly by Susumu Saito, Aiko Makino, Hiroki Yamanaka, Itaru Tsuge and Naoki Morimoto in Journal of Hand Surgery (European Volume)</p

Combined simultaneous endoscopic endonasal and transcranial surgery using high‐definition three‐dimensional exoscope for malignant tumors of the anterior skull base

Background: Advanced surgical interventions are required to treat malignancies in the anterior skull base (ASB). This study investigates the utility of endoscopic endonasal and transcranial surgery (EETS) using a high-definition three-dimensional exoscope as an alternative to traditional microscopy. Methods: Six patients with carcinomas of varying histopathologies underwent surgery employing the EETS maneuver, which synchronized three distinct surgical modalities: harvesting of the anterolateral thigh flap, initiation of the transnasal technique, and initiation of the transcranial procedure. Results: The innovative strategy enabled successful tumor resection and skull base reconstruction without postoperative local neoplastic recurrence, cerebrospinal fluid leakage, or neurological deficits. Conclusion: The integration of the exoscope and EETS is a novel therapeutic approach for ASB malignancies. This strategy demonstrates the potential of the exoscope in augmenting surgical visualization, enhancing ergonomics, and achieving seamless alignment of multiple surgical interventions. This technique represents a progressive shift in the management of these complex oncological challenges