Case report: Laparoscopic treatment of gastro-omental hemangioma with hemorrhage: two cases reports and review of literature.

Background: Spontaneous hemorrhage of gastro-omental hemangioma is a rare disease. The treatment strategy for this disease changes as it develops. In the acute stage, surgery is the first priority, among which laparoscopic treatment should be the most frequently considered option in large general hospitals. Due to the rarity of this disease, such cases have rarely been reported. Case description: We present the first report of two eldely cases with gastro-omental hemangioma with hemorrhage by laparoscopic treatment. Both cases were initially admitted with upper abdominal pain, and abdominal computed tomography (CT) scan revealed masses alongside the greater curvature of the stomach. Laparoscopic surgery was conducted immediately in both patients. The two cases recovered well after surgery, and no obvious abnormalities were observed in the follow-up period. Conclusion: Gastro-omental hemangioma rupture remains an uncommon cause of intraperitoneal hemorrhage. Timely diagnosis and surgery are paramount for treatment. Medical institutions with the correct technology and equipment should perform laparoscopic treatment to minimize surgical trauma and promote rapid recovery of patients with abdominal apoplexy.

Serum Proteomics Combined with Metabolomics Analysis Explore the Molecular Biological Characteristics of Eruptive Syringoma.

Background: Eruptive syringoma (ES) is a clinical variant of the appendageal tumor syringoma. Around 75% of ES arise in the head or neck, which makes them unsightly. ES is common in patients with amyloidosis, diabetes, and Down's syndrome, suggesting that it may be associated with potential systemic effects. ES is a rare tumor with the unclear pathogenesis and no effective treatment. Methods: A PubMed search of ES was conducted. Plasma samples of patients with ES were acquired from the Department of Dermatology at Xi'an Jiaotong University's Second Affiliated Hospital. After removing highly abundant proteins, plasma samples were subjected to proteomics and metabolomics analysis using liquid chromatography-tandem mass spectrometry (LC-MS/MS). Results: LC-MS/MS revealed 71 differentially expressed proteins and 18 differentially abundant metabolites. The functional analysis highlighted the importance of complement binding, coagulation, secretory granules and vesicle lumen. Further, the study revealed 15 hub genes associated with FGG, GC, APOE, FGA, FGB, C4A, C3, CRP, C4B, FLNA, TAGLN2, ANXA5, MYL6, MYL12B, and TLN1 organized into three clusters. The seed genes in each cluster were GC, FLNA, and MYL6. In addition, glycol metabolism was associated with variable abundance of serum metabolites, which explains the relatively high rate of ES among diabetics. Conclusion: This study suggests that immunological inflammation and tumor glycol metabolism may play significant role in the pathophysiology of ES.

Intelligent Electrocardiogram Analysis in Medicine: Data, Methods, and Applications / 中国医学科学杂志(英文版)

Electrocardiogram (ECG) is a low-cost, simple, fast, and non-invasive test. It can reflect the heart's electrical activity and provide valuable diagnostic clues about the health of the entire body. Therefore, ECG has been widely used in various biomedical applications such as arrhythmia detection, disease-specific detection, mortality prediction, and biometric recognition. In recent years, ECG-related studies have been carried out using a variety of publicly available datasets, with many differences in the datasets used, data preprocessing methods, targeted challenges, and modeling and analysis techniques. Here we systematically summarize and analyze the ECG-based automatic analysis methods and applications. Specifically, we first reviewed 22 commonly used ECG public datasets and provided an overview of data preprocessing processes. Then we described some of the most widely used applications of ECG signals and analyzed the advanced methods involved in these applications. Finally, we elucidated some of the challenges in ECG analysis and provided suggestions for further research.

Descending colon cancer in a patient with situs inversus totalis: a case report and literature review.

Situs inversus totalis (SIT) is a congenital disorder of anatomical position, and the operation of patients with total visceral inversion often brings great challenges to surgeons. Although there have been previously documented on patients with SIT and colonic cancer, this is the first case report of descending colon cancer in patient with SIT. The current report presents a case of a 67-year-old female patient with descending colon cancer and SIT. After preoperative preparation and discussion, open left hemicolectomy was performed for the patient. The postoperative recovery of the patient was smooth; however, there was a mild lymphatic leakage in the patient, which was cured by conservative treatment for 5 days. The patient was discharged on postoperative Day 10. There was no tumor recurrence or other discomfort in 1 year follow-up period.

[Two mutations of the KRT6A gene in Chinese patients with pachyonychia congenita type I].

OBJECTIVE: To investigate the gene mutation in a Chinese pedigree and one sporadic case with pachyonychia congenita type I(PC-1), as well as to explore the relationship between the genotype and phenotype. METHODS: The whole coding region of the KRT16 and KRT6A genes were amplified by long-range polymerase chain reaction (PCR). Six patients with PC-1 were studied, five of them were from a pedigree and the other one was sporadic. One unaffected member in the pedigree and 100 unrelated healthy individuals were also studied in order to exclude polymorphism. PCR products were directly sequenced to detect the mutation. RESULTS: No mutations in the KRT16 gene were observed. All patients harbored a mutation in the KRT6A gene. All five patients in the pedigree had a mutation at codon 465 (TAC to CAC) which substitutes tyrosine (Y) by histidine (H). In the sporadic patient, codon 171 (AAC) was mutated to GAC, which changes the asparagines (N) to aspartic acid (D). No such mutations were found in the unaffected member of the pedigree and the 100 unrelated controls. The mutation of Y465H is located at the end of 2B and N171D at the beginning of 1A domain of KRT6A, both are hotspots for pathogenic keratin mutations. CONCLUSION: The mutations Y465H and N171D of the KRT16A gene were detected in the pedigree and the sporadic case respectively. The Y465H mutation was a novel mutation, and the N171D mutation was reported recently.

A novel mutation in the second half of the keratin 17 1A domain in a large pedigree with delayed-onset pachyonychia congenita type 2.

Pachyonychia congenita type 2 (PC-2), also known as Jackson-Lawler type PC, is an autosomal dominant disorder characterized by hypertrophic nail dystrophy associated with focal keratoderma and multiple pilosebaceous cysts. We report a large Chinese pedigree of typical delayed-onset PC-2 that includes 19 affected members. Direct sequencing of PCR products revealed a novel heterozygous 325A-->G mutation in the affected members. This mutation predicts the substitution of asparagine by aspartic acid in codon 109 (N109D) located in the second half of the keratin 17 1A domain, where similar mutation in keratin 5 is associated with the mild Weber-Cockayne form of epidermolysis bullosa simplex.

[A novel keratin 17 gene mutation in a Chinese pedigree of delayed-onset pachyonychia congenita type II].

OBJECTIVE: To detect the keratin 17 gene mutation in a Chinese pedigree of typical delayed-onset pachyonychia congenita type II (PC-II) and to explore the relationship between the genetic mutation and the phenotype of PC-II. METHODS: The DNA was extracted from the blood samples of 19 patients with PC-II in four generations in the pedigree, 1 unaffected member of the pedigree, and 50 un-related normal persons. Nested PCR was used to amplify the mutation hot spot in the exon 1 of keratin 17 gene. The PCR products were directly sequenced to detect the mutation. RESULTS: Sequencing of the PCR products revealed that the codon 109 (AAC) was mutated as GAC in the nine affected members of the pedigree, causing the substitution of asparagine by aspartic acid in codon 109 (N109D) located in the 1A domain of keratin 17 gene. No such mutation was found in the unaffected member of the pedigree and the 50 unrelated controls. CONCLUSION: The novel missense mutation (N109D) located in the second half of 1A domain of keratin 17 gene underlies the affected members' phenotype, delayed-onset pachyonychia congenita type II.