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Frontiers in Veterinary Science 2024Lumpy skin disease (LSD) is a transboundary viral infection, affecting cattle with characteristic manifestations involving multiple body systems. A distinctive...
Lumpy skin disease (LSD) is a transboundary viral infection, affecting cattle with characteristic manifestations involving multiple body systems. A distinctive characteristic of lumpy skin disease is the subclinical disease manifestation wherein animals have viremia and shed the virus through nasal and ocular discharges, while exhibiting no nodules but enlarged lymph nodes that are easily oversighted by inexperienced vets. Further research on the role of subclinically ill animals in the transmission of LSD virus (LSDV) can contribute to the development of more effective tools to control the disease worldwide. Thus, this study aims to determine the potential role of subclinical infection in virus transmission in a non-vector-borne manner. To achieve this, we inoculated animals with the recombinant vaccine-like strain (RVLS) Udmurtiya/2019 to cause clinical and subclinical LSDV infection. After the disease manifestation, we relocated the subclinically ill animals to a new clean facility followed by the introduction of another five animals to determine the role of RVLS-induced subclinical infection in the virus transmission via direct/indirect contact. After the introduction of the naïve animals to the relocated subclinically ill ones in a shared airspace, two introduced animals contracted the virus (clinically and subclinically), showing symptoms of fever, viremia, and seroconversion in one animal, while three other introduced animals remained healthy and PCR-negative until the end of the study. In general, the findings of this study suggest the importance of considering LSDV subclinical infection as a high-risk condition in disease management and outbreak investigations.
PubMed: 38628945
DOI: 10.3389/fvets.2024.1330657 -
Frontiers in Neurology 2024Capillary hemangiomas, usually found in skin and mucosal tissues, are rarely encountered within the spinal cord, presenting a significant diagnostic challenge. We report...
Capillary hemangiomas, usually found in skin and mucosal tissues, are rarely encountered within the spinal cord, presenting a significant diagnostic challenge. We report a rare case of intradural extramedullary capillary hemangioma at the conus medullaris in a 66-year-old female patient. Our initial diagnosis leaned towards a cystic hemangioblastoma based on MRI findings due to the presence of cystic formation with an enhanced mural nodule. However, surgical exploration and subsequent pathological examination revealed the lesion as a capillary hemangioma. To the authors' knowledge, this case may represent the first documented instance of a spinal capillary hemangioma that mimics a cystic hemangioblastoma.
PubMed: 38606279
DOI: 10.3389/fneur.2024.1350780 -
Cureus Mar 2024Here, we report the case of recurrent swelling and pain in the proximal interphalangeal joint of the left ring finger, which was later diagnosed as a localized...
Here, we report the case of recurrent swelling and pain in the proximal interphalangeal joint of the left ring finger, which was later diagnosed as a localized tenosynovial giant cell tumor in a young adult female. The first presentation was at the same anatomical site four years prior. Examination at presentation showed a firm skin-colored nodule in the volar aspect of the left ring finger. The swelling was seen to be partly attached to underlying structures and was non-tender. After a careful physical examination and plain radiograph imaging of the hand, the two differential diagnoses considered were tenosynovial giant cell tumor and ganglion cyst. A surgical excision was performed, and histopathologic evaluation showed features consistent with a tenosynovial giant cell tumor, localized type. The resection margins were clear of tumor. The patient had no intraoperative or postoperative complications. Postoperative physiotherapy was recommended. No recurrence was seen after postoperative surgical follow-up for one year. This report highlights the importance of histopathologic evaluation and confirmation of clear surgical margins in the management of tenosynovial giant cell tumors. In recurrent cases, surgical re-excision with clear margins provides good clinical outcomes. Before surgical excision, patients should be informed about the biologic nature of the lesion and the high risk of recurrence. The management modalities to prevent recurrence and the need for long-term follow-up should also be discussed with the patient.
PubMed: 38601375
DOI: 10.7759/cureus.55962 -
Neurobiology of Pain (Cambridge, Mass.) 2024Spinal cord injury (SCI) affects roughly 300,000 Americans with 17,000 new cases added annually. In addition to paralysis, 60% of people with SCI develop neurogenic...
BACKGROUND AND AIMS
Spinal cord injury (SCI) affects roughly 300,000 Americans with 17,000 new cases added annually. In addition to paralysis, 60% of people with SCI develop neurogenic bowel (NB), a syndrome characterized by slow colonic transit, constipation, and chronic abdominal pain. The knowledge gap surrounding NB mechanisms after SCI means that interventions are primarily symptom-focused and largely ineffective. The goal of the present studies was to identify mechanism(s) that initiate and maintain NB after SCI as a critical first step in the development of evidence-based, novel therapeutic treatment options.
METHODS
Following spinal contusion injury at T9, we observed alterations in bowel structure and function reflecting key clinical features of NB. We then leveraged tissue-specific whole transcriptome analyses (RNAseq) and fecal 16S rRNA amplicon sequencing in combination with histological, molecular, and functional (Ca imaging) approaches to identify potential mechanism(s) underlying the generation of the NB phenotype.
RESULTS
In agreement with prior reports focused on SCI-induced changes in the skin, we observed a rapid and persistent increase in expression of calcitonin gene-related peptide (CGRP) expression in the colon. This is suggestive of a neurogenic inflammation-like process engaged by antidromic activity of below-level primary afferents following SCI. CGRP has been shown to disrupt colon homeostasis and negatively affect peristalsis and colon function. As predicted, contusion SCI resulted in increased colonic transit time, expansion of lymphatic nodules, colonic structural and genomic damage, and disruption of the inner, sterile intestinal mucus layer corresponding to increased CGRP expression in the colon. Gut microbiome colonization significantly shifted over 28 days leading to the increase in a pathogenic, gram-negative microbe. Moreover, colon specific vagal afferents and enteric neurons were hyperresponsive after SCI to different agonists including fecal supernatants.
CONCLUSIONS
Our data suggest that SCI results in overexpression of colonic CGRP which could alter colon structure and function. Neurogenic inflammatory-like processes and gut microbiome dysbiosis can also sensitize vagal afferents, providing a mechanism for visceral pain despite the loss of normal sensation post-SCI. These data may shed light on novel therapeutic interventions targeting this process to prevent NB development in patients.
PubMed: 38601267
DOI: 10.1016/j.ynpai.2024.100156 -
Frontiers in Genetics 2024Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition with complete age-dependent penetrance, variable expressivity and a global prevalence of...
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic condition with complete age-dependent penetrance, variable expressivity and a global prevalence of ∼1/3,000. It is characteriszed by numerous café-au-lait macules, skin freckling in the inguinal or axillary regions, Lisch nodules of the iris, optic gliomas, neurofibromas, and tumour predisposition. The diagnostic testing strategy for NF1 includes testing for DNA single nucleotide variants (SNVs), copy number variants (CNVs) as well as RNA analysis for deep intronic and splice variants, which can cumulatively identify the causative variant in 95% of patients. In the present study, NF1 patients were screened using a next-generation sequencing (NGS) assay targeting exons and intron/exon boundaries for SNV and multiple ligation-dependent probe amplification (MLPA) analysis for CNV detection. Twenty-six unrelated Southern African patients clinically suspected of having NF1, based on the clinical diagnostic criteria developed by the National Institute of Health (NIH), were included in the current study. A detection rate of 58% (15/26) was obtained, with SNVs identified in 80% (12/15) using a targeted gene panel and gene deletion in 20% (3/15) identified using MLPA. Ten patients (38%) had no variants identified, although they met NF1 diagnostic criteria. One VUS was identified in this study in a patient that met NF1 diagnostic criteria, however there was no sufficient information to classify variant as pathogenic. The clinical features of Southern African patients with NF1 are similar to that of the known NF1 phenotype, with the exception of a lower frequency of plexiform neurofibromas and a higher frequency of developmental/intellectual disability compared to other cohorts. This is the first clinical and molecular characterisation of a Southern African ancestry NF1 cohort using both next-generation sequencing and MLPA analysis. A significant number of patients remained without a diagnosis following DNA-level testing. The current study offers a potential molecular testing strategy for our low resource environment that could benefit a significant proportion of patients who previously only received a clinical diagnosis without molecular confirmation.
PubMed: 38596211
DOI: 10.3389/fgene.2024.1331278 -
Cureus Mar 2024Squamous cell carcinoma (SCC) is the second leading form of skin cancer. In the elderly population, surgery may carry more risk and significant morbidity in comparison...
Squamous cell carcinoma (SCC) is the second leading form of skin cancer. In the elderly population, surgery may carry more risk and significant morbidity in comparison to less invasive forms of treatment. This case report describes the successful use of intralesional 5-fluorouracil (IL5-FU) to treat cutaneous squamous cell carcinoma (cSCC). A 98-year-old white woman presented in early May 2017 with a 3.5-cm rapidly growing crusted nodule on her left proximal-lateral arm. She had a past medical history of chronic obstructive pulmonary disease, atrial fibrillation, and heart failure. The patient also had a frail body habitus and weighed 80 pounds. Physical examination revealed a large, ulcerated, crateriform mass on the left proximal-lateral arm. A shave biopsy was performed, which revealed a well-differentiated SCC, composed of nodular masses of neoplastic squamous cells with atypical nuclei, keratin pearl formation, and scattered mitotic figures with surrounding fibrosis and inflammation. The patient was wheelchair-bound and oxygen-dependent and, thus, not considered a good surgical or radiation candidate. Treatment was decided with 5-fluorouracil. At a four-week follow-up appointment, there was no visible or palpable evidence of the tumor. There was no sign of recurrence at three months, indicating treatment success. The patient later died due to cardiac arrest in September 2017. The elderly population with cSCC can benefit from intervention and treatment with IL5-FU when surgery is not an option due to patient comorbidities. IL5-FU can potentially be used in areas where access to a dermatologist, surgeon, or surgical services is limited.
PubMed: 38590475
DOI: 10.7759/cureus.55855 -
Cureus Mar 2024Dermatofibrosarcoma protuberans (DFSP) is a rare, slow-growing soft tissue sarcoma, typically presenting as a cutaneous lesion. However, its occurrence in chronic wounds...
Dermatofibrosarcoma protuberans (DFSP) is a rare, slow-growing soft tissue sarcoma, typically presenting as a cutaneous lesion. However, its occurrence in chronic wounds is infrequently documented, posing diagnostic and therapeutic challenges. This report details the case of a 59-year-old female with no significant medical history, presenting with a chronic, non-healing wound on the left shoulder, persisting for three years. Initially a small nodule, it progressed into an ulcerating lesion. Physical examination revealed a contracted scar with restricted shoulder mobility. After obtaining informed consent, a surgical excision of the lesion was performed by an electrocautery. Histopathology confirmed DFSP, characterized by spindle fibrous cells, with skin ulceration and deep dermal infiltration. A split-thickness skin graft achieved successful closure. This case underscores the importance of considering DFSP in chronic, non-healing wounds. Timely intervention and appropriate surgical management are crucial for favorable outcomes.
PubMed: 38586739
DOI: 10.7759/cureus.55638 -
Cureus Mar 2024Merkel cell carcinoma (MCC) is a cutaneous neoplasm that is challenging to diagnose secondary to its rarity. We report a case involving a 76-year-old Caucasian female...
Merkel cell carcinoma (MCC) is a cutaneous neoplasm that is challenging to diagnose secondary to its rarity. We report a case involving a 76-year-old Caucasian female with a seemingly benign skin nodule on her right forearm. Histopathological analysis revealed characteristics of MCC, including uniform round cells with minimal cytoplasm and fine granular chromatin. Immunohistochemical staining confirmed insulinoma-associated protein 1 (INSM1) positivity, a marker with high sensitivity and specificity in localized MCC diagnosis. The subsequent treatment plan involved wide local excision, sentinel lymph node evaluation, and radiation therapy, aligning with therapeutic standards for MCC. Negative positron emission tomography (PET) scans and follow-up for one year have demonstrated no evidence of recurrence or additional lesions. This case demonstrates the challenges in diagnosing MCC and the need for histopathological and immunohistochemical assessments for an accurate diagnosis. Diagnostic markers, INSM1, are important distinguishing factors between MCC and other skin cancers. In conclusion, our case contributes to the literature in diagnosing MCC and successful treatment, while emphasizing the need for immunohistochemical markers for accurate diagnosis and guiding therapeutic decisions.
PubMed: 38586682
DOI: 10.7759/cureus.55613 -
Journal of Medical Case Reports Apr 2024Graves' disease is the autoimmune activation of the thyroid gland causing diffuse enlargement and hyperfunction of the gland. Manifestations of Graves' disease are...
BACKGROUND
Graves' disease is the autoimmune activation of the thyroid gland causing diffuse enlargement and hyperfunction of the gland. Manifestations of Graves' disease are multisystemic and include thyroid orbitopathy; pretibial myxedema, also referred to as thyroid dermopathy; and thyroid acropachy, described as a severe form of thyroid dermopathy. Our paper focuses on an atypical case of thyroid dermopathy.
CASE PRESENTATION
An 11-year-old Saudi male presented with a prominent diffuse goiter and exophthalmos. Investigations were consistent with a diagnosis of Graves' disease. The physical exam showed diffuse, non-pitting swelling of the ankle and penis, mimicking a lymphatic malformation. Further, multiple nodules were found on the hands and feet. Treatment of the nodules with cautery resulted in more severe nodules.
CONCLUSION
This report describes rare presentations of thyroid dermopathy mimicking lymphatic malformation. The Koebner phenomenon can explain this patient's atypical presentations. Intralesional injections of triamcinolone and total thyroidectomy showed clear improvement.
Topics: Humans; Male; Child; Graves Disease; Skin Diseases; Myxedema; Exophthalmos
PubMed: 38582878
DOI: 10.1186/s13256-024-04462-x -
Skin Health and Disease Apr 2024Leprosy is caused by . The condition primarily affects the skin and peripheral nerves. There are two types of leprosy reactions, Type 1 and Type 2 or erythema nodosum...
Leprosy is caused by . The condition primarily affects the skin and peripheral nerves. There are two types of leprosy reactions, Type 1 and Type 2 or erythema nodosum leprosum (ENL). ENL is a severe multi-system, immune-mediated complication of lepromatous leprosy. It is characterised by widespread painful cutaneous nodules, fever and peripheral oedema. This report discusses the unusual case of a 29-year-old woman who developed a localised form of ENL which required thalidomide to induce remission.
PubMed: 38577053
DOI: 10.1002/ski2.339