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PubMed1997

Additional evidence of a variant translocation t(12;22) with EWS/CHOP fusion in myxoid liposarcoma: clinicopathological features.

It is well established that the majority of myxoid/round cell liposarcomas (LPS) are characterized by a reciprocal translocation t(12;16)(q13;p11) which at the molecular level results infusion of the CHOP and FUS/TLS genes. It is assumed that functional characterization of these genes may provide insight into the molecular pathogenesis of this tumour type. This study describes two new cases of myxoid/round cell LPS having a t(12;22). By reverse transcription-polymerase chain reaction (RT-PCR) it has been shown that this leads to fusion between the CHOP and EWS genes, thus indicating involvement of the EWS gene, at least occasionally, in yet another sarcoma type. Combining these two cases with two others which were recently similarly characterized at the molecular level, their clinicopathological features have been compared with cases having the more usual t(12;16). It was not possible to identify any clinical or pathological differences between these molecular genetic subsets. The relevance or significance of these gene fusion products in myxoid/round cell LPS remains to be determined.

Adult↗
PubMed2004

Rare manifestations of sirenomelia syndrome: a report of five cases.

Five cases of sirenomelia presented with rare manifestations are discussed. Three neonates were born alive and died within 2 to 12 hours after birth. One case was the offspring of a triple in vitro fertilization pregnancy with history of early intrauterine death of one of the triplets. The main features included fusion of lower extremities (five of five), renal agenesis (three of five), polycystic renal dysplasia (two of five), anal atresia with large bowel hypoplasia (three of five), pulmonary hypoplasia (four of five), and single umbilical artery (five of five). Other features that have only rarely been associated with sirenomelia included concurrence of congenital heart disease and neuroblastoma, gallbladder agenesis, and upper extremity defects.

Abnormalities, Multiple↗
PubMed2006

Personal recognition using hand shape and texture.

This paper proposes a new bimodal biometric system using feature-level fusion of hand shape and palm texture. The proposed combination is of significance since both the palmprint and hand-shape images are proposed to be extracted from the single hand image acquired from a digital camera. Several new hand-shape features that can be used to represent the hand shape and improve the performance are investigated. The new approach for palmprint recognition using discrete cosine transform coefficients, which can be directly obtained from the camera hardware, is demonstrated. None of the prior work on hand-shape or palmprint recognition has given any attention on the critical issue of feature selection. Our experimental results demonstrate that while majority of palmprint or hand-shape features are useful in predicting the subjects identity, only a small subset of these features are necessary in practice for building an accurate model for identification. The comparison and combination of proposed features is evaluated on the diverse classification schemes; naive Bayes (normal, estimated, multinomial), decision trees (C4.5, LMT), k-NN, SVM, and FFN. Although more work remains to be done, our results to date indicate that the combination of selected hand-shape and palmprint features constitutes a promising addition to the biometrics-based personal recognition systems.

Algorithms↗
PubMed1991

Correlation of clinical pigmentary characteristics with histopathologically-confirmed dysplastic nevi in nonfamilial melanoma patients. Studies of melanocytic nevi IX.

The dysplastic melanocytic nevus (DMN) is the key clinical marker for the familial dysplastic nevus syndrome and has also been associated with high risk for non-familial melanoma. Characterisations of DMN itself have been qualitative and on a case-by-case basis. In this study, we provided clinical and histological characterisations for each of 150 pigmented lesions from 150 patients with prior malignant melanoma. The steps involved in the study were as follows: (1) The two to four clinicians characterised pigmented lesions on each of 150 patients, and the lesion closest in characteristics to an atypical nevus was quantitatively described based on size, border characteristics and colour characteristics; (2) The lesion was then removed and independently quantified by a single dermatopathologist without knowledge of the clinical features; (3) We computed the correlation between each of the clinical variables and each of the histologic features for each of the 150 patients. Histologic diagnosis of dysplastic nevus was strongly associated with total number of palpable arm nevi, total number of any arm nevi, total number of nevi on the body of any type, and total number of clinically atypical nevi on the body (correlation coefficients 23.2% to 30.4% with P less than 0.01 in each instance). There were also strong correlations between the counts of numbers of nevi and certain types of architectural histologic features, including fusion (bridging of junctional nests), lymphocyte response and fibroplasia of the papillary dermis. Histologic evaluation of solar elastosis was negatively correlated with total numbers of nevi and total number of clinically atypical nevi (P less than 0.01). Freckling on forearm and on shoulders showed no significant positive or negative correlations with any of the histologic features nor with overall diagnosis of dysplastic nevus. We conclude that observations regarding total numbers of nevi (either normal or clinically atypical nevi) are correlated with nuclear and architectural histologic dysplasia on biopsy of the most atypical pigmented lesions.

Adult↗
PubMed2025

soFusion: facilitating tissue structure identification via spatial multi-omics data fusion.

The rapid advancement of spatial multi-omics technologies has opened new avenues for dissecting tissue architecture with unprecedented resolution. However, inherent disparities across omics modalities, such as differences in biological hierarchy and resolution, pose significant challenges for integrative analysis. To address this, we present soFusion, a method for representation learning on spatial multi-omics data that enables automated identification of tissue compartmentalization. soFusion employs a graph convolutional network (GCN) to extract latent embeddings from spatial omics profiles. To simultaneously capture both cross-modality relationships and modality-specific features, we introduce a novel strategy for intra- and inter-omics feature learning. Moreover, modality-specific decoders are designed to preserve the unique information embedded in each omics type. We evaluated soFusion on multiple datasets including gene expression, protein expression, and epigenetic features. Across all benchmarks, soFusion consistently outperformed existing methods in delineating anatomical structures and identifying spatial domains with improved continuity and reduced noise. Collectively, soFusion offers an effective solution for spatial multi-omics integration, substantially enhancing the robustness of spatial domain identification.

Humans↗
PubMed2002

Fusion of vesicles in manganese complex of a single-chain schiff base amphiphile--3-cyano-N-benzylidene hexadecylamine.

A single-chain amphiphile containing a rigid Schiff base segment, 3-cyano-N-benzylidene hexadecylamine (CNBHB) in the polar head group was synthesized and studied for its vesicle-forming properties. The dependence of the aggregation behavior of the vesicles as such and in the presence of manganese ions were studied as a function of temperature using differential scanning calorimetry and turbidity measurements. Transmission electron microscopy (TEM) was used to analyze the morphology of the vesicles, showed interesting features with fusion of regular structures, and were quite stable. In the presence of manganese ions, fusion of vesicles takes place. This could be due to the metal ions that are bound to the surface of the vesicles that cause a partial destruction of the hydration shell on the surface of the vesicles. The reduction in the hydration force could thus be responsible for the fusion.

Journal Article↗
PubMed1998

NSF function in neurotransmitter release involves rearrangement of the SNARE complex downstream of synaptic vesicle docking.

The SNARE hypothesis has been proposed to explain both constitutive and regulated vesicular transport in eukaryotic cells, including release of neurotransmitter at synapses. According to this model, a vesicle targeting/docking complex consisting primarily of vesicle- and target-membrane proteins, known as SNAREs, serves as a receptor for the cytosolic N-ethylmaleimide-sensitive fusion protein (NSF). NSF-dependent hydrolysis of ATP disassembles the SNARE complex in a step postulated to initiate membrane fusion. While features of this model remain tenable, recent studies have challenged fundamental aspects of the SNARE hypothesis, indicating that further analysis of these components is needed to fully understand their roles in neurotransmitter release. We have addressed this issue by using the temperature-sensitive Drosophila NSF mutant comatose (comt) to study the function of NSF in neurotransmitter release in vivo. Synaptic electrophysiology and ultrastructure in comt mutants have recently defined a role for NSF after docking in the priming of synaptic vesicles for fast calcium-triggered fusion. Here we report that an SDS-resistant neural SNARE complex, composed of the SNARE polypeptides syntaxin, n-synaptobrevin, and SNAP-25, accumulates in comt mutants at restrictive temperature. Subcellular fractionation experiments indicate that these SNARE complexes are distributed predominantly in fractions containing plasma membrane and docked synaptic vesicles. Together with the electrophysiological and ultrastructural analyses of comt mutants, these results indicate that NSF functions to disassemble or otherwise rearrange a SNARE complex after vesicle docking and that this rearrangement is required to maintain the readily releasable pool of synaptic vesicles.

Adenosine Triphosphatases↗
PubMed2001

The molecular biology of the group VIA Ca2+-independent phospholipase A2.

The group VIA PLA2 is a member of the PLA2 superfamily. This enzyme, which is cytosolic and Ca2+-independent, has been designated iPLA2beta to distinguish it from another recently cloned Ca2+-independent PLA2. Features of iPLA2beta molecular structure offer some insight into possible cellular functions of the enzyme. At least two catalytically active iPLA2beta isoforms and additionalsplicing variants are derived from a single gene that consists of at least 17 exons located on human chromosome 22q13.1. Potential tumor suppressor genes also reside at or near this locus. Structural analyses reveal that iPLA2beta contains unique structural features that include a serine lipase consensus motif (GXSXG), a putative ATP-binding domain, an ankyrin-repeat domain, a caspase-3 cleavage motif DVTD138Y/N, a bipartite nuclear localization signal sequence, and a proline-rich region in the human long isoform. iPLA2beta is widely expressed among mammalian tissues, with highest expression in testis and brain. iPLA2beta prefers to hydrolyze fatty acid at the sn-2 fatty acid substituent but also exhibits phospholipase A1, lysophospholipase, PAF acetylhydrolase, and transacylase activities. iPLA2beta may participate in signaling, apoptosis, membrane phospholipid remodeling, membrane homeostasis, arachidonate release, and exocytotic membrane fusion. Structural features and the existence of multiple splicing variants of iPLA2beta suggest that iPLA2beta may be subject to complex regulatory mechanisms that differ among cell types. Further study of its regulation and interaction with other proteins may yield insight into how its structural features are related to its function.

Alternative Splicing↗
PubMed2006

Surgical outcomes of posterior lumbar interbody fusion in elderly patients.

BACKGROUND: We are aware of no reports on the surgical results of posterior lumbar interbody fusion in elderly patients. The purpose of this study was to investigate the clinical and radiographic results of posterior lumbar interbody fusion with pedicle screws in patients older than seventy years of age and compare them with results in younger patients. We also investigated the association between the clinical and radiographic results. METHODS: The study included 101 patients who had been followed for at least three years after posterior lumbar interbody fusion with pedicle screws for the treatment of L4-L5 degenerative spondylolisthesis. The average follow-up period was fifty months. The patients were divided into two groups according to their age at the time of the operation: Group 1 included thirty-one patients who were seventy years of age or older (average age, seventy-four years) at the time of the operation, and Group 2 included seventy patients who were less than seventy years old (average age, fifty-nine years). Preoperative and postoperative status (according to the Japanese Orthopaedic Association scoring system) and postoperative complications were compared between the two groups. Postoperative radiographic features, including fusion status and segmental lordosis, were also examined. RESULTS: No significant differences in preoperative and postoperative scores were observed between the two age groups, with the numbers available. General complications were found in Group 1. However, the prevalence of adjacent segment degeneration in Group 1 was lower than that in Group 2. The radiographic results revealed no significant difference in the prevalence of segmental lordosis, with the numbers available. There was no nonunion in either group. Although the prevalence of either collapsed union or delayed union in Group 1 was significantly higher than that in Group 2 (p = 0.034), the fusion results such as union in situ, collapsed union, and delayed union did not appear to affect the postoperative clinical results in this study. CONCLUSIONS: No obvious differences in the clinical results were observed between the age groups with the numbers available. Postoperative adjacent segment degeneration was less frequent and collapsed union and delayed union were more common in the elderly group. The fusion results did not appear to affect the postoperative clinical results in this study.

Adult↗
PubMed2005

Multinucleated giant cell formation exhibits features of phagocytosis with participation of the endoplasmic reticulum.

Macrophage fusion leading to formation of multinucleated giant cells during chronic inflammation is poorly understood in mechanism and physiological significance. To address this, we developed a system of human macrophage fusion that utilizes IL-4, IL-13, or alpha-tocopherol to generate large foreign body-type giant cells (FBGC). Extending our previously demonstrated requirements for F-actin and mannose receptor (MR) activity, we find that macrophage fusion exhibits further features of a phagocytic process. Pharmacological inhibition of IL-4-induced FBGC formation indicates critical roles for vacuolar-type ATPase, microtubules, the endoplasmic reticulum (ER), and calcium-independent phospholipase A(2) (iPLA(2)), but not calcium-dependent PLA(2) (cPLA(2)), secretory PLA(2) (sPLA(2)), cyclooxygenase, or lipoxygenase. Immunocytochemistry confirms iPLA(2) expression and absence of cPLA(2) or sPLA(2) expression in macrophages/FBGC. As markers of ER-mediated phagocytosis, calnexin and calregulin are detectable on non-permeabilized fusing macrophages and also concentrated at fusion interfaces where they co-localize with actin in permeabilized macrophages/FBGC. Furthermore, ER markers co-localize with concanavalin A reactivity on non-permeabilized fusing macrophages, suggesting that the ER may present MR ligand during fusion events. These data demonstrate for the first time that the mechanism of macrophage fusion leading to formation of multinucleated giant cells exhibits multiple features of phagocytosis with potential participation of the ER.

Adenosine Triphosphatases↗
PubMed2003

Ethylene oxide sterilization of autologous bone flaps following decompressive craniectomy.

INTRODUCTION: In patients undergoing decompressive craniectomy, the bone flap is temporarily preserved either in the subcutaneous tissue of the patient or frozen. However, there are some drawbacks related to these methods. MATERIAL AND METHODS: In 16 patients in whom the bone flap was removed for decompressive craniectomy, the bone was firstly washed in hydrogen peroxide and then placed in hermetically-sealed bags and sterilized using ethylene oxide. The bone was repositioned after an average period of 4.3 months. RESULTS: One patient sustained an infection of the surgical wound which required permanent exclusion of the bone flap. In all the others, esthetic and functional results were good after an average follow-up of 20 months. Control CT-scan of the bone flap demonstrated preservation of its structural features with fusion of the bone margins and revitalization of the flap. On MRI a subdural space was again visible. CONCLUSIONS: Sterilization of the bone flap with ethylene oxide in patients undergoing decompressive craniectomy avoids some of the drawbacks related to the techniques currently used. The easiness, low cost, good aesthetic and functional results of this procedure make it a valid alternative to other techniques for preservation of autologous bone in decompressive craniectomies.

Adult↗
PubMed1993

Clinical features and treatment of congenital fusion of the small and ring finger metacarpals.

Nine cases of congenital fusion of the small and ring finger metacarpals are reported. The underlying etiology of congenital fusion of the small and ring finger metacarpals was ulnar ray deficiency in four hands, cleft hand in two hands, and symbrachydactyly in one hand; two hands were unclassifiable. X-ray films revealed that the small finger was hypoplastic and accompanied by brachymesophalangy in all cases. It was supposed that the main cause of congenital metacarpal fusion was the deficit of mesenchymal cells. Treatment for metacarpal fusion included splitting the metacarpal fusion and autogenous iliac bone graft in two hands, deepening of the interdigital space in two hands, and amputation of the small finger in one hand. Satisfactory improvement in appearance was achieved in three hands.

Child↗
PubMed2005

Characterization of BIV Env core: implication for mechanism of BIV-mediated cell fusion.

Entry of lentiviruses, such as human immunodeficiency virus type 1 (HIV-1) and simian immunodeficiency virus (SIV), requires folding of two heptad repeat regions (HR1 and HR2) of gp41 into a trimer-of-hairpins, which subsequently brings virus and cell membrane into fusion. This motif is a generalized feature of viral fusion proteins and has been exploited in generating antiviral fusion agents. In the present paper, we report structural characters of Env protein from another lentivirus, bovine immunodeficiency virus (BIV), which contributes to a good animal model of HIV. BIV HR1 and HR2 regions are predicted by two different programs and expressed separately or conjointly in Escherichia coli. Biochemical and biophysical analyses show that the predicted HRs of BIV Env can form a stable trimer-of-hairpins or six-helix bundle just like that formed by feline immunodeficiency virus Env. Cell fusion assay demonstrates that the HR2 peptide of BIV can efficiently inhibit the virus-mediated cell fusion.

Amino Acid Sequence↗
PubMed1992

Neurofibromatosis of the cervical spine. A report of eight cases.

Eight patients with neurofibromatosis presented with symptoms of cervical spine involvement over a period of 17 years, five of them within the second decade of life. The symptoms included neurological deficit in five, a neck mass in four, and deformity in three; only two complained of pain. Osteolysis of vertebral bodies with kyphosis of more than 90 degrees was the most common radiological feature. Posterior fusion failed in the one patient in whom it was performed. Good results were achieved by anterior fusion, alone, or combined with posterior fusion. Surgical complications included one death in a patient with a malignant neurofibroma, and one case of transient neurological deterioration.

Adolescent↗
PubMed2002

Oral-facial-digital syndrome, Type I: a case report.

Oral-facial-digital syndrome is a group of congenital anomalies, which affects the face, oral structures and digits. There are nine subtypes. OFDS type I, is x-linked dominant trait mostly affecting females. Reports of OFDS type 1 in Asians are extremely rare. This paper shows a case of OFDS type 1, in a southern Chinese girl, who in addition to most of the classic features, had fusion of the mandibular canine and lateral incisor teeth.

Anodontia↗
PubMed1996

Cenani-Lenz syndrome in father and daughter.

We present a father and daughter with typical clinical and radiological features of Cenani-Lenz syndrome. Cenani-Lenz syndrome has been delineated as a type of complete syndactyly resembling the spoon hand seen in Apert syndrome, with as important additional feature, the fusion of metacarpals and disorganization of the phalanges. Based on the observation of the syndrome in at least two affected siblings born to normal parents and the consanguinity in one family autosomal recessive inheritance was proposed. The findings in the present family could indicate that Cenani-Lenz syndrome may be genetically heterogeneous. Another possible explanation could be that the occurrence in affected siblings born to normal parents could be explained by gonadal mosaicism for an autosomal dominant gene.

Child, Preschool↗
PubMed2023

Evaluating the impact of modeling choices on the performance of integrated genetic and clinical models.

The value of genetic information for improving the performance of clinical risk prediction models has yielded variable conclusions. Many methodological decisions have the potential to contribute to differential results across studies. Here, we performed multiple modeling experiments integrating clinical and demographic data from electronic health records (EHR) and genetic data to understand which decision points may affect performance. Clinical data in the form of structured diagnostic codes, medications, procedural codes, and demographics were extracted from two large independent health systems and polygenic risk scores (PRS) were generated across all patients with genetic data in the corresponding biobanks. Crohn's disease was used as the model phenotype based on its substantial genetic component, established EHR-based definition, and sufficient prevalence for model training and testing. We investigated the impact of PRS integration method, as well as choices regarding training sample, model complexity, and performance metrics. Overall, our results show that including PRS resulted in higher performance by some metrics but the gain in performance was only robust when combined with demographic data alone. Improvements were inconsistent or negligible after including additional clinical information. The impact of genetic information on performance also varied by PRS integration method, with a small improvement in some cases from combining PRS with the output of a clinical model (late-fusion) compared to its inclusion an additional feature (early-fusion). The effects of other modeling decisions varied between institutions though performance increased with more compute-intensive models such as random forest. This work highlights the importance of considering methodological decision points in interpreting the impact on prediction performance when including PRS information in clinical models.

Preprint↗