Ferrochelatase Gene Variants Associated with Cholestasis in Adults: A Case Report.

We reported a case of recurrent liver dysfunction in an adult patient with a history of abnormal liver enzymes persisting for over ten years. The primary abnormalities included elevated levels of gamma-glutamyl transferase and alkaline phosphatase. Despite conducting a series of extensive etiological tests to identify common causes of liver disease, the diagnosis remained unclear.

The Identification and Characterization of the Gene Family in Oliv. Heteromorphic Leaves Provide a Theoretical Basis for the Functional Study of .

Oliv. typically has four kinds of heteromorphic leaves: linear (Li), lanceolate (La), ovate (Ov) and broad ovate (Bo). Heteromorphic leaves help adapt to extreme desert environments and further contribute to protection against land desertification in Northwest China.

Transcriptional determinism and stochasticity contribute to the complexity of autism-associated SHANK family genes.

Precision of transcription is critical because transcriptional dysregulation is disease causing. Traditional methods of transcriptional profiling are inadequate to elucidate the full spectrum of the transcriptome, particularly for longer and less abundant mRNAs. SHANK3 is one of the most common autism causative genes.

Transcriptional Determinism and Stochasticity Contribute to the Complexity of Autism Associated Family Genes.

Precision of transcription is critical because transcriptional dysregulation is disease causing. Traditional methods of transcriptional profiling are inadequate to elucidate the full spectrum of the transcriptome, particularly for longer and less abundant mRNAs. is one of the most common autism causative genes.

Intrathecal Injection of Newborn Mouse for Genome Editing and Drug Delivery.

Intrathecal injection is a commonly employed procedure in both pediatric and adult clinics, serving as an effective means to administer medications and treatments. By directly delivering medications and treatments into the cerebrospinal fluid of the central nervous system, this method achieves higher localized drug concentrations while reducing systemic side-effects compared to other routes such as intravenous, subcutaneous, or intramuscular injections. Its importance extends beyond clinical settings, as intrathecal injection plays a vital role in preclinical studies focused on treating neurogenetic disorders in rodents and other large animals, including non-human primates.

Late-onset Cholestasis with Paucity of Portal Area Secondary to HNF1β Deficiency in Adulthood: A Case Report.

Hepatocyte nuclear factor 1β (HNF1β) is essential for biliary development, while its genetic defect triggers the dysplasia of interlobular bile ducts, leading to life-threatening hepatitis and cholestasis. To date, this disorder has mainly been documented in neonates. Here, we report a case of cholestasis in an adult patient caused by a mutation.

Bufalin suppresses hepatocellular carcinogenesis by targeting M2 macrophage-governed Wnt1/β-catenin signaling.

Background: The interplay of tumor-associated macrophages (TAMs) and tumor cells plays a key role in the development of hepatocellular carcinoma (HCC) and provides an important target for HCC therapy. The communication between them is still on the investigation. Bufalin, the active component derived from the traditional Chinese medicine (TCM) Chansu, has been evidenced to possess anti-HCC activity by directly suppressing tumor cells, while its immunomodulatory effect on the tumor microenvironment (TME) is unclear.

Low-density lipoprotein receptor promotes crosstalk between cell stemness and tumor immune microenvironment in breast cancer: a large data-based multi-omics study.

Background: Tumor cells with stemness in breast cancer might facilitate the immune microenvironment's suppression process and led to anti-tumor immune effects. The primary objective of this study was to identify potential targets to disrupt the communication between cancer cell stemness and the immune microenvironment.

Methods: In this study, we initially isolated tumor cells with varying degrees of stemness using a spheroid formation assay.

Prognostic and predictive biomarkers for anti-EGFR monoclonal antibody therapy in RAS wild-type metastatic colorectal cancer: a systematic review and meta-analysis.

Background: RAS mutations affect prognosis in patients with metastatic colorectal cancer (mCRC) and have been identified as strong negative predictive markers for anti-epidermal growth factor receptor monoclonal antibody (anti-EGFR mAb) therapy, but many tumors containing wild-type RAS genes still do not respond to these therapies. Some additional biomarkers may have prognostic or predictive roles, but conclusions remain controversial.

Methods: We performed a meta-analysis and systematic review of randomized controlled trials comparing anti-EGFR mAb therapy with alternative therapy that investigated the prognostic and predictive impact of additional biomarkers in RAS wild-type (wt) mCRC patients.

Nitrogen and phosphorus losses via surface runoff from tea plantations in the mountainous areas of Southwest China.

Nowadays, there has been a rapid expansion of tea plantations in the mountainous areas of southwest China. However, little research has focused on the pollution problems caused by the losses of nitrogen and phosphorus from tea plantations in this area. Therefore, a field experiment was conducted using the runoff plots in situ monitoring method following farmers' conventional management from 2018 to 2020 in Guizhou Province, southwest China.

Advances of multi-omics applications in hepatic precancerous lesions and hepatocellular carcinoma: The role of extracellular vesicles.

Due to the lack of distinct early symptoms and specific biomarkers, most patients with hepatocellular carcinoma (HCC) are usually diagnosed at advanced stages, rendering the treatment ineffective and useless. Therefore, recognition of the malady at precancerous lesions and early stages is particularly important for improving patient outcomes. The interest in extracellular vesicles (EVs) has been growing in recent years with the accumulating knowledge of their multiple cargoes and related multipotent roles in the modulation of immune response and tumor progression.

Molecular characteristics of immunocytes infiltration in primary central nervous system lymphoma.

Primary central nervous system lymphoma (PCNSL) is a rare B-cell lymphoma of central nervous system, which is often found in immunocompromised patients. The common clinical treatment of PCNSL is methotrexate (MTX) and whole brain radiation therapy. With the development of tumour immunology research, the tumour microenvironment of PCNSL is characterised by abnormal expression of different immune signature molecules and patients with PCNSL may benefit from tumour immunotherapy.

BPTF inhibition antagonizes colorectal cancer progression by transcriptionally inactivating Cdc25A.

As the largest subunit of the nuclear remodeling factor complex, Bromodomain PHD Finger Transcription Factor (BPTF) has been reported to be involved in tumorigenesis and development in several cancers. However, to date, its functions and related molecular mechanisms in colorectal cancer (CRC) are still poorly defined and deserve to be revealed. In this study, we uncovered that, under the expression regulation of c-Myc, BPTF promoted CRC progression by targeting Cdc25A.

Effects of diet-induced obesity in the development of lymphedema in the animal model: A literature review.

Background: Obesity poses deleterious consequences on every organ system, especially the lymphatic network. However, the underlying cellular mechanisms through which obesity causes lymphatic dysfunction remains unclear. We aimed to summarize experimental studies that evaluated the effect of obesity on the lymphatic system on animal models.

Characteristics of immunophenotypes and immunological in tumor microenvironment and analysis of immune implication of CXCR4 in gastric cancer.

The formation of gastric cancer (GC) is a complicated process involving multiple factors and multiple steps. The tumor-immune microenvironment is essential for the growth of GC and affects the prognosis of patients. We performed multiple machine learning algorithms to identify immunophenotypes and immunological characteristics in GC patients' information from the TCGA database and extracted immune genes relevance of the GC immune microenvironment.

Influence of Nonsyndromic Bicoronal Synostosis and Syndromic Influences on Orbit and Periorbital Malformation.

Background: Oculoorbital disproportion in patients with craniosynostosis has similarities and dissimilarities between syndromic and nonsyndromic cases. The authors hypothesized that these two conditions have specific individual influences as they relate to development of the orbital and periorbital skeletons.

Methods: A total of 133 preoperative computed tomography scans (nonsyndromic bicoronal synostosis, n = 38; Apert syndrome bicoronal synostosis subtype, n = 33; Crouzon syndrome bicoronal synostosis subtype, n = 10; controls, n = 52) were included.

Imaging biomarkers for diagnosis and treatment response in patients with lymphedema.

Lymphedema is defined as a dysfunction of the lymphatic system producing an accumulation of lymphatic fluid in the surrounding tissue, as well as edema and fibrosis. A total of 250 million people worldwide are affected by this condition. Greater than 99% of these cases are related to a secondary cause.

Orbital and Periorbital Dysmorphology in Untreated Pfeiffer Syndrome.

Background: Visual impairment secondary to orbital and periorbital dysmorphology is frequent in Pfeiffer syndrome patients. The etiopathogenesis of this aberrancy, however, remains unclear.

Methods: Untreated Pfeiffer syndrome patients (n = 31) and normal control subjects (n = 43) were compared.

Orbitofacial morphology changes with different suture synostoses in Crouzon syndrome.

This study aims to investigate the influence of different cranial vault suture synostoses on orbital and periorbital morphological development in Crouzon syndrome. Computed tomography (CT) scans of Crouzon syndrome patients who had not undergone operation were subgrouped as follows: type I: bicoronal synostosis; type II: sagittal synostosis; type III: pansynostosis; type IV: perpendicular combinations of suture synostoses; and type V: bilateral squamosal synostosis. CT scans were measured using Materialise software.

The Impact of implant-based reconstruction on persistent pain after breast cancer surgery: A systematic review.

Introduction: With the increasing number of breast cancer survivors and reconstruction operations, persistent pain following breast cancer surgery (PPBCT) and its management is becoming a challenge for plastic surgeons. To date, most studies compared the difference in the level of PPBCT in reconstruction versus nonreconstruction groups. We systematically reviewed the literature to assess the impact of implant-based reconstruction on PPBCT levels.

Facial Dysmorphology in Saethre-Chotzen Syndrome.

Purpose: Classic features of Saethre-Chotzen syndrome (SCS) described in the literature include a prominent nasal bridge, eyelid ptosis, telorbitism, maxillary hypoplasia, and mandibular prognathism. The purpose of this study was to evaluate objectively the bony features of SCS.

Methods: Preoperative computer tomography scans of 15 SCS patients, 23 normal controls, 13 bicoronal nonsyndromic, and 7 unicoronal nonsyndromic craniosynostosis patients were included for analysis.