Abnormal Tissue Research Articles

New insights into SUMOylation and NEDDylation in fibrosis

Fibrosis is the outcome of any abnormal tissue repair process that results in normal tissue replacement with scar tissue, leading to persistent tissue damage and cellular injury. During the process of fibrosis, many cytokines and chemokines are involved, and their activities are controlled by post-translational modifications, especially SUMOylation and NEDDylation. Both these modifications entail a three-step process of activation, conjugation, and ligation that involves three kinds of enzymes, namely, E1 activating, E2 conjugating, and E3 ligase enzymes. SUMOylation participates in organ fibrosis by modulating FXR, PML, TGF-β receptor I, Sirt3, HIF-1α, and Sirt1, while NEDDylation influences organ fibrosis by regulating cullin3, NIK, SRSF3, and UBE2M. Further investigations exhibit the therapeutic potentials of SUMOylation/NEDDylation activators and inhibitors against organ fibrosis, especially ginkgolic acid in SUMOylation and MLN4924 in NEDDylation. These results demonstrate the therapeutic effects of SUMOylation and NEDDylation against organ fibrosis and highlight their activators as well as inhibitors as potential candidates. In the future, deeper investigations of SUMOylation and NEDDylation are needed to identify novel substrates against organ fibrosis; moreover, clinical investigations are needed to determine the therapeutic effects of their activators and inhibitors that can benefit patients. This review highlights that SUMOylation and NEDDylation function as potential therapeutic targets for organ fibrosis.

Angina bullosa hemorrhagica: A case series of a rare entity

The term “Angina bullosa hemorrhagica” (ABH) refers to the sudden emergence of oral blood-filled vesicles and bullae that are not related to systemic illnesses, vesiculobullous disorders, blood dyscrasia, or any other recognized cause. It presents as sudden-onset hemorrhagic bullae that burst spontaneously, causing superficial erosions that heal on their own without leaving any scarring in a few days. The most frequently recognized triggering factor seems to be trauma; however, the fundamental tissue abnormality is still unknown. In this report, we are presenting three cases diagnosed clinically as ABH in an effort to highlight this rare cause of oral hemorrhagic bullae, which is a self-limiting disease.

Unveiling the physiological impact of ESCRT-dependent autophagosome closure by targeting the VPS37A ubiquitin E2 variant-like domain

Macroautophagy (autophagy) involves the formation of phagophores that mature into autophagosomes. The impact of inhibiting autophagosome closure remains unclear. Here, we report the generation and analysis of mice with impaired autophagosome closure by targeting the ubiquitin E2 variant-like (UEVL) β strands of the endosomal sorting complex required for transport (ESCRT) I subunit VPS37A. The VPS37A UEVL mutation (Δ43-139) impairs bulk autophagic flux without disrupting ESCRT-I complex assembly and endosomal function. Homozygous mutant mice exhibit signs of autophagy impairment, including p62/SQSTM1 and ubiquitinated protein accumulation, neuronal dysfunction, growth retardation, antioxidant gene upregulation, and tissue abnormalities. However, about half of the mutant neonates survive to adulthood without severe liver injury. LC3 proximity proteomics reveals that the VPS37A UEVL mutation leads to active TANK-binding kinase 1 (TBK1) accumulation on phagophores, resulting in increased p62 phosphorylation and inclusion formation. These findings reveal a previously unappreciated role of LC3-conjugated phagophores in facilitating protein aggregation and sequestration, potentially alleviating proteotoxicity.

Clinical Utility of Bone Turnover Markers in Chronic Kidney Disease

Chronic kidney disease (CKD) often leads to mineral and bone disorders (CKD-MBDs), which are nearly universal in patients undergoing dialysis. CKD-MBD includes abnormal calcium-phosphate metabolism, vascular and soft tissue calcification, and bone abnormalities (renal osteodystrophy [ROD]). Bone fragility in CKD occurs due to low bone mass and poor bone quality, and patients with CKD have higher fracture and mortality rates. Bone histomorphometry is the gold standard for ROD diagnosis; however, it is labor-intensive and expensive. The Kidney Disease Improving Global Outcomes clinical practice guidelines on CKD-MBD suggest serum parathyroid hormone (PTH) and bone-specific alkaline phosphatase (bone ALP) for predicting bone turnover in ROD. In this review, we focus on the role of PTH and bone turnover markers, intact procollagen type N-terminal propeptide of type I collagen, bone ALP, and tartrate-resistant acid phosphatase 5b in diagnosing ROD, predicting fractures, and guiding treatment in patients with CKD.

Detecting structural and functional mitochondrial abnormalities in periodontal tissues using an experimental periodontitis model

Background: Recent research indicates that mitochondrial dysfunction plays a significant role in the development and progression of oral inflammation, such as periodontitis and pulpitis. Aim: To assess structural and functional mitochondrial abnormalities in periodontal tissues using an experimental periodontitis model in rats. Materials and methods: The study used male Wistar rats aged 4 months, with a body weight of 221.0±7.5 g. Simple randomization was used to divide the animals into two groups (n=10 each). Group 1 (control) consisted of intact animals, while Group 2 consisted of animals with experimentally induced periodontitis. A ligature-induced periodontitis model was used, with a non-absorbable polyfilament thread sutured into the gum near the mandibular incisors. Histological examinations were used to validate the experimental periodontitis model. The following molecular genetic and biochemical parameters were assessed: nuclear DNA and mitochondrial DNA (mtDNA) damage, abundance and heteroplasmy of mtDNA, mitochondrial gene expression, and levels of hydrogen peroxide (H2O2), malondialdehyde, and reduced glutathione. Results: The resulting experimental periodontitis model revealed histological changes in periodontal tissues, indicating periodontitis in the animals. On day 14 after ligation, histological findings showed that Group 2 had more significant mtDNA damage and heteroplasmy in periodontal tissues than Group 1 (control). Moreover, Group 2 showed a decrease in the expression of mtDNA genes involved in adenosine triphosphate synthesis. This group also had lower glutathione levels and higher H2O2 and malondialdehyde levels than the control group. Conclusion: The experimental periodontitis model in rats revealed structural and functional mitochondrial abnormalities in periodontal tissues. New approaches to assessing mitochondrial function in periodontitis may facilitate the diagnosis and treatment of the disease and its complications.

Application of novel nanomaterials with dual functions of antimicrobial and remineralization in mouthwashes

The study aims to improve the antimicrobial and remineralization-promoting properties of mouthwash by synthesizing novel Ag/ZnO/Oyster Shells nanocomposites and evaluating their anti-caries properties and biosafety in vitro and in vivo, so as to reduce the incidence of caries. The antimicrobial properties of the synthesized Ag/ZnO/Oyster Shell nanocomposites were examined by bacterial inhibition zone, minimum inhibitory concentration, minimum bactericidal concentration, fluorescence staining and scanning electron microscopy. The potential of the materials to promote remineralization of demineralized enamel was detected by scanning electron microscopy, surface microhardness and depth of hard tissue defects, and laser confocal electron microscopy analysis. The synthesized materials were then incorporated into mouthwash, and their effects on antimicrobial properties, remineralization-promoting properties were evaluated. Furthermore, an oral mucosal contact model was established to assess local irritation and systemic effects. The results showed that the novel Ag/ZnO/Oyster Shell nanocomposites possessed strong antimicrobial activity, remineralization-promoting ability and good biosafety, and the mouthwash containing Ag/ZnO/Oyster Shell possessed strong antimicrobial performance and remineralization-promoting ability, and showed no obvious abnormalities in local mucosal tissues, blood indices, and histopathology of the liver and kidneys in the oral exposure model of the SD rats. These findings indicate that Ag/ZnO/Oyster shell incorporated into mouthwash has strong antimicrobial activity, good remineralization-promoting properties and good biosafety in vivo. It is therefore expected to be used in clinical applications.

Generation of Ext1 Gene-Edited Mice Model Via Dual sgRNAs/Cas9 System and Phenotypic Analyses.

Hereditary multiple exostoses (HME) is an autosomal dominant skeletal disease. Genetic linkage analyses have identified that mutations in the exostosin glycosyltransferase (EXT)1 and EXT2 genes are linked to HME pathogenesis, with EXT1 mutation being the most frequent. The aim of this study was to generate a mice model with Ext1 gene editing to simulate human EXT1 mutation and investigate the genetic pathogenicity of Ext1 through phenotypic analyses. We designed a pair of dual sgRNAs targeting exon 1 of the mice Ext1 gene for precise deletion of a 46bp DNA fragment, resulting in frameshift mutation of the Ext1 gene. The designed dual sgRNAs and Cas9 proteins were injected into mice zygotes cytoplasm. A total of 14 mice were obtained via embryo transfer, among which two genotypic chimera mice had a deletion of the 46bp DNA fragment in exon 1 of the Ext1 gene. By hybridization and breeding, we successfully generated heterozygous mice with edited Ext1 gene (Ext+/-). Off-target effect analysis did not reveal off-target mutations in Ext+/- mice caused by the two sgRNAs used. Compared to wild-type mice, Ext+/- mice exhibited lower body weights. X-ray imaging showed hyperplastic bone near caudal vertebrae only in male Ext+/- mice, with computed tomography values approximately at 200 HU for hyperplastic bone between ribs and spine regions. Furthermore, immunohistochemical analysis revealed fewer articular chondrocytes expressing EXT1 in edited mice compared to wild-type ones. Pathological section analysis demonstrated no structural or morphological abnormalities in heart, liver, lung, or kidney tissues from Ext+/- mice. In conclusion, we successfully generated an accurate DNA deletion model for studying Ext1 using dual sgRNAs/Cas9 systems. In conclusion, we successfully generated precise DNA deletions in the Ext1 mice model using the dual sgRNAs/Cas9 system. In conclusion, we observed significant phenotypic changes in Ext+/- mice, particularly bone hyperplasia in male individuals; however, no exostosis was detected in the gene-edited mice. The introduction of a frameshift mutation into the Ext1 gene through CRISPR/Cas9 technology resulted in novel phenotypic alterations, highlighting the genetic pathogenicity of Ext1. Therefore, our Ext+/- mice serve as a valuable model for further biomedical investigations related to the Ext1 gene.

Brain tissue microstructure in a prospective, longitudinal, population-based cohort of preterm and term-born young adults.

Fifteen million infants annually are born prematurely, placing them at high risk for life-long adverse neurodevelopmental outcomes. Whether brain tissue abnormalities that accompany preterm birth persist into young adulthood and are associated with long-term cognitive or psychiatric outcomes is not known. From infancy into young adulthood, we followed a population-based sample of consecutively identified preterm infants and their matched term controls. The preterm group was born at an average gestational age of 31.5 ± 2.6 weeks. We obtained Diffusion Tensor Imaging scans and assessed cognitive and psychiatric outcomes in young adulthood, at a mean age of 19 (range 17.6-20.8) years. Usable data were acquired from 180 participants (89 preterm, 91 term). Preterm birth was associated with lower fractional anisotropy (FA) and higher average diffusion coefficient (ADC) values in deep white matter tracts of the internal capsule, cerebral peduncles, inferior frontal-occipital fasciculus, sagittal stratum and splenium of the corpus callosum, as well as in grey matter of the caudate, putamen and thalamus. A younger gestational age at birth accentuated these tissue abnormalities. Perinatal characteristics, including lower 5-min APGAR score, history of bronchopulmonary dysplasia, more days of oxygen supplementation and multiple births all increased ADC values in deep white matter tracts and grey matter throughout the brain. Preterm individuals had significantly lower full-scale IQ and more frequent lifetime psychiatric disorders. Those with psychiatric illnesses had significantly higher ADC and lower FA values throughout the deep posterior white matter. Abnormalities in brain tissue microstructure associated with preterm birth persist into young adulthood and likely represent disordered myelination and accompanying axonal pathology. These disturbances are associated with a higher likelihood of developing a psychiatric disorder by young adulthood. Brain tissue disturbances were accentuated in those born at younger gestational ages and in those with a history of perinatal complications associated with infection and inflammation.

HISTOLOGICAL EVALUATION OF THE EFFECTS OF ACTION BITTERS ON THE TESTES OF ADULT MALE WISTAR RATS

Action Bitters, a popular herbal concoction, has been traditionally used to treat various health conditions, including those related to the male reproductive system. Despite its widespread use, there is a dearth of scientific evidence on its effects on the testes. This study aimed to investigate the histological changes in the testes of adult male Wistar rats following administration of Action Bitters. Methods: Fifteen adult male Wistar rats were randomly divided into three groups (n = 5). Group A served as the normal control, while groups B and C received 10% (0.66ml/kg) and 5% (0.33ml/kg) lethal dose 50 (Ld50) of Action Bitters, respectively. The Ld50 values were calculated based on the median lethal dose of the herbal remedy. The rats were administered the herbal remedy for a period of one month, after which they were sacrificed, and their testes collected for histological examination. Results: Microscopic examination of the testicular tissue samples revealed no evidence of abnormal cellular changes or tissue damage. The tissue samples appeared normal, with no signs of inflammation, necrosis, or apoptosis. Discussion: The findings of this study suggest that Action Bitters does not induce histological changes in the testes of adult male Wistar rats. These results provide new insights into the potential mechanism of action of the herbal medication on testicular function. The study highlights the importance of considering both histological and biochemical assessments when evaluating the effects of herbal remedies on reproductive health. Conclusion: This study contributes to the growing body of knowledge on the effects of herbal remedies on the male reproductive system. The findings suggest that Action Bitters may be a safe and effective herbal remedy for treating reproductive health issues, and further research is warranted to explore its potential benefits and mechanisms of action.

Literature Review on Stages of Colorectal Cancer

Colorectal cancer, primarily originating from polyps in the colon or rectum, represents a significant health challenge due to its potential progression to malignancy. Polyps, abnormal tissue growths in the inner lining of the colon or rectum, often start as benign adenomas. Over time, these adenomas may undergo cellular mutations, transforming into cancerous tumors. Early detection and removal of polyps during screening significantly reduce the likelihood of cancer development. If left untreated, colorectal cancer can invade deeper layers of the colon wall, metastasize to nearby lymph nodes, and spread to distant organs, commonly the liver, peritoneum, or lungs. Colon cancer typically originates in the mucosa, the innermost lining of the colon, and progresses through the tissue and muscle layers over a span of approximately 10 years. The anatomy of the colon and rectum, consisting of the cecum, ascending colon, transverse colon, descending colon, sigmoid colon, and rectum, plays a critical role in understanding the disease's progression. Advances in screening methods and treatments have significantly improved outcomes, emphasizing the importance of early intervention in reducing colorectal cancer mortality.

Pain and Fertility Outcomes in Patients Undergoing Cyst Excision Versus Cyst Aspiration in Moderate to Severe Endometriosis: A Case Series

Background: Endometriosis and ovarian cysts are prevalent gynecological disorders characterized by the presence of abnormal tissue growth in the pelvic cavity. Objective: To document the pain and fertility outcomes in patients undergoing cyst excision versus cyst aspiration in moderate to severe endometriosis presenting to a tertiary healthcare facility. Methods: This was a case series conducted in the Department of Obstetrics and Gynecology, Vinayaka Missions Medical College & Hospital, Vinayaka Missions Research Foundation (VMRF, Deemed to be University), Karaikal, Puducherry, India between June 2021 and May 2023 (n=14). Results: The study included 14 patients, divided evenly with 7 undergoing cyst excision and 7 undergoing cyst aspiration. Before surgery, both groups had comparable baseline characteristics in terms of age, symptom severity, and the nature of the ovarian cysts. After surgery, patients who underwent cyst excision showed a higher rate of pain relief compared to those who underwent cyst aspiration (61% versus 26%, respectively). In terms of fertility outcomes, 55% of patients in the cyst excision group achieved improved clinical pregnancy outcomes after surgery, whereas 35% of those in the cyst aspiration group had comparable results. Conclusion: Cyst excision appears to be associated with superior pain relief and faster recovery compared to cyst aspiration in patients with endometriosis or ovarian cysts.

Exploring cardiovascular involvement in IgG4-related disease: a case series approach with cardiovascular magnetic resonance

BackgroundIgG4-related disease (IgG4-RD) is a relapsing–remitting, fibroinflammatory, multisystem disorder. Cardiovascular involvement from IgG4-RD has not been systematically characterised. In this study, we sought to evaluate consecutive patients with IgG4-RD using...

A Novel NOTCH3 Variant Leading to Lateral Meningocele Syndrome: Prenatal Diagnosis and Possible Expansion of the Phenotype

Introduction: NOTCH3, one of the four mammalian Notch receptors, acts as a transcriptional activator in a variety of tissues. Variants in NOTCH3 lead to distinct phenotypes, depending on variant type and location. Truncating variants in the last exon generate a protein lacking the PEST domain, responsible for degradation, leading to a gain-of-function effect and causing Lateral Meningoceles syndrome (LMS), characterized by dysmorphisms and variable cardiac, skeletal, and connective tissue abnormalities; motor delay may occur, but the cognitive function is usually normal. Case Presentation: We report the first case of prenatal molecular diagnosis of LMS, which was made using prenatal exome sequencing after an ultrasound with findings of fetal cystic hygroma, mild bilateral ventriculomegaly, and facial dysmorphisms. After birth, magnetic resonance imaging confirmed the presence of lateral meningoceles. A complete clinical evaluation was performed and unexpected biliary anomalies were found. Conclusion: The occurrence of biliary anomalies has not been previously reported in LMS but may have biological plausibility. Expression of NOTCH3 has been demonstrated in biliary development and is thought to play a role in the differentiation of hepatoblasts into biliary epithelial cells, and also in liver regeneration and repair. We hypothesize that the findings reported here might expand the phenotype of LMS.

Penataklasanaan Fisioterapi Pada Kasus Tennis Elbow Sinistra dengan Modalitas Transcutaneous Electrical Nerve Stimulation (TENS) dan Hold Relax Exercise di RSUD Ciereng Subang

Tennis Elbow is the formation of abnormal tissue in the wrist extensor muscles which occurs due to inflammation due to excessive contraction. To determine the implementation of Physiotherapy in reducing pain, increasing muscle strength, increasing the Scope of Joint Movement and increasing functional ability and preventing contractures in Tennis Elbow Sinistra cases using Transcutaneous Electrical Nerve Stimulation (TENS) and Hold Relax Exercise modalities. After 6 treatments using VAS, it showed a decrease in movement pain from T1 with a value of 6 to T6 with a value of 3, a decrease in tender pain from T1 with a value of 5 to T6 with a value of 3, while for silent pain T1 to T6 a value of 0. There was an increase in strength. muscles using MMT, namely elbow extension muscle T1 worth 4 to T6 worth 5, elbow flexion muscle T1 worth 3 to T6 worth 5, supination muscle T1 worth 3 to T6 5, pronation muscle T1 worth 3 to T6 worth 5, wrist extension muscle T1 value 4 becomes T6 value 5, while the wrist, radial and ulnar flexion muscles are normal, namely T1 value 5 and T6 value 5. There is an increase in the range of motion of the joints by measuring using a Goneometer, namely in the elbow joint in the sagittal plane T1: 00-00-1450 becomes T6 : 00-00-1500, in the rotation plane T1 : 900-00-700 becomes T6 : 900-00-800, and in the sagittal plane wrist joint T1 : 400-00-500 becomes T6 : 500-00-600, while in The frontal plane is normal, namely T1: 200-00-300 becomes 200-00-300. Transcutaneous Electrical Nerve Stimulation (TENS) can help reduce pain and reduce muscle tension, Hold Relax Exercise can increase muscle strength, reduce stiffness and increase joint range of motion and can help improve functional ability.

Transvenous phrenic nerve stimulation reduces diaphragm injury during controlled mechanical ventilation in a preclinical model of ARDS.

Patients with acute respiratory distress syndrome (ARDS) require periods of deep sedation and mechanical ventilation, leading to diaphragm dysfunction. Our study seeks to determine whether the combination of temporary transvenous diaphragm neurostimulation (TTDN) and mechanical ventilation changes the degree of diaphragm injury and cytokines concentration in a preclinical ARDS model. Moderate ARDS was induced in pigs using oleic acid, followed by ventilation for 12 h post-injury with volume-control at 8 mL/kg, positive end-expiratory pressure (PEEP) 5 cmH2O, respiratory rate and [Formula: see text] set to achieve normal arterial blood gases. Two groups received TTDN: every second breath (MV + TTDN50%, n = 6) or every breath (MV + TTDN100%, n = 6). One group received ventilation only (MV, n = 6). Full-thickness diaphragm and quadricep muscle biopsies were taken at study end. Samples were fixed and stained with hematoxylin and eosin and a point-counting technique was applied to calculate abnormal muscle area fraction. Cytokine concentrations were measured in homogenized tissue using porcine-specific enzyme-linked immunosorbent assay (ELISA) and compared with serum samples. Percentage of abnormal diaphragm tissue was different between MV [8.1% (6.0-8.8)] versus MV + TTDN50% [3.4% (2.1-4.8)], P = 0.010 and MV versus MV + TTDN100% [3.1% (2.5-4.0)], P = 0.005. Percentage of abnormal quadriceps tissue was not different between groups. Cytokine concentration patterns in diaphragm samples were different between all groups (P < 0.001) and the interaction between TTDN application and resultant cytokine concentration pattern was significant (P = 0.025). TTDN, delivered in synchrony with mechanical ventilation, mitigated diaphragm injury, as evidenced by less abnormal tissue in the diaphragm samples, in pigs with oleic acid-induced ARDS and is an exciting tool for lung and diaphragm-protective ventilation.NEW & NOTEWORTHY This study adds to our understanding of applying transvenous diaphragm neurostimulation synchronously with mechanical ventilation by examining its effects on diaphragm muscle injury and cytokine concentration patterns in pigs with acute respiratory distress syndrome (ARDS). We observed that using this therapy for 12 h post lung injury mitigated ventilator-induced diaphragm injury and changed the pattern of cytokine concentration measured in diaphragm tissue. These findings suggest that transvenous diaphragm neurostimulation is an exciting tool for lung and diaphragm protective ventilation.

Conventional and Emerging Diagnostic Approaches for Differentiated Thyroid Carcinoma

Differentiated thyroid carcinoma (DTC) is among the most prevalent endocrine cancers. The diagnosis of DTC has witnessed tremendous progress in terms of technological advancement and clinical operational guidelines. DTC diagnostics have evolved significantly over centuries, from early clinical examinations to modern molecular testing and imaging modalities. The diagnosis and management of DTC are currently dependent on the international histological classification and identification of specific genetic abnormalities in tumor tissue, as well as the prognostic implications that can inform treatment decisions. This study goes down the memory lanes of various diagnostic methods for DTCs, highlighting recent advancements in molecular testing and point-of-care (POC) technology. Beginning with conventional methods like fine needle aspiration biopsy (FNAB), fine needle aspiration cytology (FNAC), and ultrasound (US) and moving to contemporary innovative approaches such as POC-thyroglobulin (POC-Tg) and liquid biopsy, this review showcases the current trends in DTC diagnostics. Although considerable progress has been achieved in early malignancy detection, patient stratification, prognosis, and personalized treatment, there is a need to refine the mainstay diagnostic procedures. Finally, future perspectives were provided, and emerging roles of artificial intelligence in DTC diagnostics were explored.

Detached pyloric gland adenoma of gallbladder: A case report and review of literature.

Vigilant intraoperative inspection is crucial during gallbladder surgery to detect any abnormal tissue including the rare pyloric gland adenomas, which can be easily missed. Thorough examination and removal of unusual lymph nodes or thickened tissues are essential to prevent the risk of malignant transformation and ensure comprehensive patient care. Pyloric gland adenomas are uncommon tumors that can be discovered in various organs such as the stomach, gallbladder, and pancreas. Typically lacking noticeable symptoms, these tumors are categorized into subtypes, with the pyloric variant being the most frequent. The term "intracholecystic papillary-tubular neoplasms (ICPN)" is used to emphasize growth patterns and associated risks. In a discussed case, a detached pyloric gland adenoma was identified incidentally during a cholecystectomy procedure. A 58-year-old obese male presented with upper abdominal pain, nausea, and vomiting. He was diagnosed with early cholecystitis caused by gallstones. Subsequently, during a laparoscopic cholecystectomy, a detached adenoma was discovered. Vigilant screening is crucial, as the identification of gallbladder pyloric gland adenomas is a rare occurrence that might be missed during gallbladder surgery. Any unusual lymph nodes or thickened tissues found in association with the gallbladder ought to be carefully removed, as they could potentially indicate detached gallbladder adenomas with a significant risk of becoming malignant. Failing to consider this possibility may subject the patient to prolonged risks if not meticulously examined.

Indication-based analysis of laser interstitial thermal therapy: a propensity score-matched comparison of outcomes for brain tumor versus epilepsy indications.

Laser interstitial thermal therapy (LITT) is a minimally invasive procedure used to ablate abnormal tissue in a targeted fashion. It is most commonly used to treat epileptic foci, brain tumors, and radiation necrosis. This study aimed to compare immediate postoperative outcomes between these indications. This study analyzed clinical data from the Nationwide Readmissions Database (NRD) from 2016 to 2019 and identified 2234 patients who underwent LITT procedures using ICD-10 codes. The authors analyzed patient demographics, complications, discharge disposition, readmission rates, and mortality. Following propensity score matching, 317 patients treated for epilepsy and 323 patients treated for brain tumors were compared. The mean ages were similar (epilepsy: 45.7 vs tumor: 49.0 years, p = 0.55), as were the proportions of female patients (epilepsy: 45.4% vs tumor: 52.9%, p = 0.83), all-payer costs (p = 0.81), income quartiles (p = 0.58), insurance types (p = 0.70), frailty rates (p = 0.85), and comorbid disease burdens as assessed by ECI score (p = 0.73). No significant differences were observed in rates of hemorrhage (p = 0.1), pulmonary embolism (p = 0.32), or infection (p = 0.16). However, the tumor cohort had higher rates of deep vein thrombosis (3.4% vs < 3.15%, p = 0.045), nonroutine discharge (26.6% vs 16.4%, p = 0.04), and 1-year hospital readmission (32.5% vs 18.6%, p = 0.006). One-year mortality rates were similar (tumor: 3.4% vs epilepsy: < 3.15%, p = 0.08). While postoperative complications and 1-year mortality rates were similar among patients undergoing LITT for epilepsy and brain tumors, the tumor cohort experienced higher rates of deep vein thrombosis, nonroutine discharge, and 1-year hospital readmission.

Phenotypic Findings Associated with Variation in Elastin

Variation in the elastin gene (ELN) may contribute to connective tissue disease beyond the known disease associations of Supravalvar Aortic Stenosis and Cutis Laxa. Exome data from MyCode Community Health Initiative participants were analyzed for ELN rare variants (mean allele frequency <1%, not currently annotated as benign). Participants with variants of interest underwent phenotyping by dual chart review using a standardized abstraction tool. Additionally, all rare variants that met inclusion criteria were collapsed into an ELN gene burden score to perform a Phenome-wide Association Study (PheWAS). Two hundred and ninety-six eligible participants with relevant ELN variants were identified from 184,293 MyCode participants. One hundred and three of 254 living participants (41%) met phenotypic criteria, most commonly aortic hypoplasia, arterial dilation, aneurysm, and dissection, and connective tissue abnormalities. ELN variation was significantly (P <2.8x10-5) associated with "arterial dissection" in the PheWAS and two connective tissue Phecodes approached significance. Variation in ELN is associated with connective tissue pathology beyond classic phenotypes.

Cutis Verticis Gyrata Differential Diagnosis: Clinical Case

Background. Cutis verticis gyrata is rare benign scalp disorder characterized by excessive skin and subcutaneous tissue proliferation and hypertrophy. Nowadays, there are three forms of this disease with various developmental mechanisms and associated manifestations. Clinical case description. This article presents the patient admitted with diagnosis and clinical picture of pachydermia, who underwent surgical excision of scalp abnormal tissues. However, the diagnosis of giant congenital melanocytic nevus was established according to the results of clinical examination. Later it was confirmed by histological and immunohistological studies. Moreover, pathogenic variants in the NRAS gene were not revealed. Conclusion. This case demonstrates the complexity of differential diagnosis of pachydermia that leads to careful examination of patients with morphogenetic studies of affected tissues samples.