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Scientific Reports May 2024As an autoimmune disease, up to 73% of patients with primary biliary cholangitis (PBC) have a combination of extrahepatic autoimmune diseases (EHAIDs); however, the...
As an autoimmune disease, up to 73% of patients with primary biliary cholangitis (PBC) have a combination of extrahepatic autoimmune diseases (EHAIDs); however, the causal relationship between PBC and EHAIDs is unclear. The genome-wide association analyses provided 14 GWAS data for PBC and EHAIDs, and bidirectional, two-sample MR analyses were performed to examine the relationship between PBC and EHAIDs. The analysis using MR provides a strong and meaningful estimation of the bidirectional correlation between PBC and 7 EHAIDs: rheumatoid arthritis, systemic lupus erythematosus, Sjögren's syndrome, systemic sclerosis, autoimmune hypothyroidism, inflammatory bowel disease and ulcerative colitis of its types. In addition, PBC increases the risk of autoimmune thyroid diseases such as autoimmune hyperthyroidism and Graves' disease, as well as multiple sclerosis and psoriasis. Additionally, PBC is identified as a risk factor for Crohn's disease and Celiac disease. Based on genetic evidence, there may be connections between PBC and specific EHAIDs: not all coexisting EHAIDs induce PBC, and vice versa. This underscores the significance of prioritizing PBC in clinical practice. Additionally, if any liver function abnormalities are observed during treatment or with EHAIDs, it is crucial to consider the possibility of comorbid PBC.
Topics: Humans; Liver Cirrhosis, Biliary; Autoimmune Diseases; Genome-Wide Association Study; Mendelian Randomization Analysis; Colitis, Ulcerative; Arthritis, Rheumatoid; Inflammatory Bowel Diseases; Sjogren's Syndrome; Lupus Erythematosus, Systemic; Genetic Predisposition to Disease; Celiac Disease; Graves Disease; Risk Factors; Crohn Disease; Scleroderma, Systemic; Multiple Sclerosis; Polymorphism, Single Nucleotide; Psoriasis
PubMed: 38773317
DOI: 10.1038/s41598-024-62509-x -
Indian Journal of Ophthalmology May 2024To explore the clinicopathological characteristics of immunoglobulin G4 (IgG4)-positive ocular adnexal marginal zone B-cell lymphoma (OAML) and associated patient...
PURPOSE
To explore the clinicopathological characteristics of immunoglobulin G4 (IgG4)-positive ocular adnexal marginal zone B-cell lymphoma (OAML) and associated patient treatment outcomes.
METHODS
Medical records from patients diagnosed with IgG4-positive OAML treated at the West China Hospital between January 2016 and August 2023 were retrospectively analyzed.
RESULTS
This study included data from 22 patients (11 males, 11 females), aged between 36 and 83 years, with disease durations from 1 month to 30 years. Sixteen cases exhibited unilateral ocular involvement (ten left eyes, six right eyes), while six exhibited bilateral involvement. Common clinical symptoms included ocular masses, eyelid swelling, and proptosis, with the orbit and lacrimal gland being the most commonly impacted sites. Among the 22 patients, 13 who were clinically suspected of having IgG4-related ophthalmic disease (IgG4-ROD) underwent serum IgG4 testing pre-operatively, revealing elevated IgG4 levels in 11 of these patients. The use of computed tomography and magnetic resonance imaging facilitated the evaluation of the location and size of lesions. All 22 patients received surgical treatment. Subsequently, 14 of these patients underwent local radiotherapy, five received post-operative chemotherapy, and three were closely observed. The follow-up period of patients in this study was 3-77 months, with an average follow-up time of 36 months. Except for one patient who died of disease progression, all others showed favorable prognoses with significant improvements.
CONCLUSIONS
These results support the classification of IgG4-positive OAML as a distinct OAML sub-type with clinical features that partially overlap with IgG4-ROD. Therefore, accurate differentiation between OAML and IgG4-ROD is imperative, necessitating timely surgical intervention and precise pathological diagnosis to prevent diagnostic errors and inappropriate treatment. Currently, no standardized treatments for IgG4-positive OAML exist, but our results suggest that standard OAML therapies are generally efficacious.
PubMed: 38767546
DOI: 10.4103/IJO.IJO_2560_23 -
Conservation Physiology 2024Total dissolved gas (TDG) supersaturation downstream of dams can occur in the Yangtze River basin and is known to cause stress and even death in fish. Consequently, it...
Total dissolved gas (TDG) supersaturation downstream of dams can occur in the Yangtze River basin and is known to cause stress and even death in fish. Consequently, it is important to establish tolerance thresholds of endemic fish to protect local aquatic resources. We conducted experiments to assess survival characteristics and swimming ability of bighead carp, an important commercial fish dwelling in the Yangtze River, to evaluate its tolerance threshold to TDG supersaturation. The typical external symptoms of gas bubble trauma (GBT) were observed and the time when the fish lost equilibrium and died were recorded. The results showed that the mortality occurred when TDG level exceeded 125%, with obvious symptoms such as exophthalmos and bubbles on the head. The interval between loss of equilibrium and mortality decreased with an increase in TDG level. Neither exposure time nor TDG level significantly affected the critical swimming speed (U) of fish exposed to non-lethal exposure (110%, 120% and 125% TDG) over a 7 day period. Significant reductions in U were found under 130% and 135% TDG conditions when the exposure lasted 52.0 h and 42.9 h, respectively. The U also significantly decreased after exposure of 1.6 h under 140% TDG condition. Moreover, after exposure to 140% TDG for 39.2 h, 135% TDG for 56.5 h and 130% TDG for 95.9 h, bighead carp were transferred into air saturated water to recover for 24 h or 48 h; however, swimming performance remained impaired. The results of this study indicate that 125% TDG was the highest TDG level where limited mortality was observed and the swimming ability was not impaired, showing that 125% TDG can be set as the tolerance threshold of this species to guide the operation of dams in the Yangtze River Basin.
PubMed: 38765883
DOI: 10.1093/conphys/coae023 -
Cureus Apr 2024Antinuclear cytoplasmic antibody (ANCA)-related scleritis is a potentially sight-threatening inflammatory condition that may occur as a primary vasculitis disorder or as...
Antinuclear cytoplasmic antibody (ANCA)-related scleritis is a potentially sight-threatening inflammatory condition that may occur as a primary vasculitis disorder or as a secondary vasculitis in a variety of inflammatory conditions. While ANCA has been classically associated with primary vasculitis diseases such as granulomatosis with polyangiitis (GPA), microscopic polyarteritis (MPA), and eosinophilic granulomatosis with polyangiitis (EGPA), it is interesting that in cases of lupus spectrum disease (LSD), both ANCA and atypical p-ANCA have been observed as secondary autoantibodies. Scleritis is a rare ocular manifestation of lupus disease with an incidence of around 1%. This paper describes a case of sight-threatening posterior scleritis with positive atypical p-ANCA as an early manifestation of LSD. LSD is an acknowledged condition but frequently presents a diagnostic challenge or delay due to its ambiguous symptoms which may not fully align with the classification criteria of established systemic lupus erythematosus (SLE). Nonetheless, this condition should not be underestimated due to its potential impact on major organ involvement and its tendency to progress to established SLE. The diagnosis of LSD heavily relies on clinician suspicion, considering factors such as symptoms present in at least one organ system, positivity of antinuclear antibody (ANA), and clinical suspicion of future SLE development. Early identification allows for early treatment which would benefit high-risk patients. A middle-aged Chinese lady presented with bilaterally asymmetrical eye redness and swelling, which was worse on the right side. Clinical examination revealed right eye proptosis, conjunctival injection, chemosis, scleral redness and binocular diplopia in all gazes. Right eye fundoscopic examination displayed extensive choroidal folds with a positive T-sign on the B-scan. Apart from ocular symptoms, there was no significant medical history related to autoimmune or connective tissue disorders. Her p-ANCA and c-ANCA results were negative, however atypical p-ANCA titer was positive with a high antinuclear antibody (ANA) titer of 1:1280 with a homogenous pattern. Additionally, she has a family history of systemic lupus erythematosus in her daughter. A diagnosis of right eye posterior scleritis secondary to underlying LSD was made. The scleritis was successfully treated with a combination of corticosteroid and systemic immunosuppressants and the patient was initiated on oral hydroxychloroquine to manage underlying LSD. We aim to highlight to clinicians the diagnostic challenges associated with scleritis in LSD and emphasize the importance of prompt and timely multidisciplinary management in minimizing patient mortality and morbidity, as reflected in this case. This case of a positive atypical p-ANCA scleritis in LSD serves as an excellent example of effective management.
PubMed: 38765367
DOI: 10.7759/cureus.58507 -
Cureus Apr 2024As the use of teprotumumab for thyroid eye disease (TED) becomes more prolific, there remains a scarcity of literature regarding the associated side effects and adverse...
As the use of teprotumumab for thyroid eye disease (TED) becomes more prolific, there remains a scarcity of literature regarding the associated side effects and adverse events of teprotumumab use. The authors present a single-center retrospective, observational case review of TED patients who received at least a single dose of teprotumumab infusion at the oculofacial plastic surgery service between February 2020 and July 2023. The most predominant recollected side effects were fatigue, brittle nails, dry eye symptoms, hair loss, muscle spasms, and dry mouth. Significant adverse events were limited to two cases of a blood clot and a single case of pulmonary embolism. This is the first retrospective study of patient-reported side effects and adverse events experienced by a cohort of teprotumumab users.
PubMed: 38765324
DOI: 10.7759/cureus.58585 -
The Journal of International Medical... May 2024Fungal orbital cellulitis is usually seen in immunocompromised individuals, and opportunistic pathogens are the main etiology. We herein report a case of fungal orbital...
Fungal orbital cellulitis is usually seen in immunocompromised individuals, and opportunistic pathogens are the main etiology. We herein report a case of fungal orbital cellulitis due to in a patient with no history of trauma. A 48-year-old man presented to the emergency room of our hospital with a 2-week history of periorbital swelling, conjunctival hyperemia, and chemosis of his right eye. The visual acuity of his right eye was 6/20, and the intraocular pressure was 44 mmHg. The main clinical findings were proptosis of the right ocular globe with conjunctival hyperemia and a palpable infratemporal orbital mass. Laboratory testing failed to detect the presence of a pathogenic infection, and the lesions on computed tomography images resembled those of a malignant tumor of the orbit. The diagnosis was finally confirmed by postoperative pathological examination, and the patient responded favorably to debridement combined with antifungal therapy. Histopathological examination may help to reveal the nature of this disease. Surgical removal of inflammatory lesions can serve as an important diagnostic and treatment method for fungal orbital cellulitis.
Topics: Humans; Male; Middle Aged; Aspergillosis; Immunocompromised Host; Tomography, X-Ray Computed; Antifungal Agents; Orbital Cellulitis; Debridement; Eye Infections, Fungal
PubMed: 38757522
DOI: 10.1177/03000605241239857 -
International Journal of Surgery Case... Jun 2024Olfactory neuroblastoma or esthesioneuroblastoma is a rare malignant tumour, that develops in the olfactory neuroepithelium and is one of the rarest tumours of the nasal...
INTRODUCTION AND IMPORTANCE
Olfactory neuroblastoma or esthesioneuroblastoma is a rare malignant tumour, that develops in the olfactory neuroepithelium and is one of the rarest tumours of the nasal cavity. Ocular manifestations are uncommon. The diagnosis is based on histology: biopsy, immunohistochemistry and ultrastructural findings.
CASE PRESENTATION
We report a case of olfactory neuroblastoma of the olfactory placode in a 36-year-old woman with orbital involvement. Computed tomography and magnetic resonance imaging of the skull, showed a suspicious lesion with significant orbital and cranial extension. After anatomopathological study of the biopsy, a protocol palliative radiotherapy was established.
CLINICAL DISCUSSION
We discuss the clinical, radiological, anatomopathological and therapeutic aspects of this condition, emphasising the importance of evoking this diagnosis in the presence of unilateral tumour-like exophthalmos associated with suggestive rhinological signs.
CONCLUSION
Ophthalmological involvement usually occurs at an advanced stage of esthesioneuroblastoma. This case highlights the fatal course of olfactory neuroblastoma. As it can present with the comlex symptoms related to ocular and nasal sites. Early diagnosis is the key to better therapeutic choices according to its level of extension, purposing at the best possible prognosis for the patient.
PubMed: 38754157
DOI: 10.1016/j.ijscr.2024.109757 -
Iranian Journal of Otorhinolaryngology May 2024Upper respiratory tract infections and sinusitis are more prevalent in children than in adults. Unilateral sinusitis is not uncommon disease. Our aim was to analyze the...
INTRODUCTION
Upper respiratory tract infections and sinusitis are more prevalent in children than in adults. Unilateral sinusitis is not uncommon disease. Our aim was to analyze the disease characteristics in children with unilateral sinusitis and compare them with those of adults.
MATERIALS AND METHODS
This study included 124 patients with unilateral chronic sinusitis divided according to age into two groups: pediatric group ≤18 years (66 cases) and adult group >18 years (58 cases). The groups were compared in terms of demographic data, side, clinical manifestations and radiological findings.
RESULTS
In pediatric patients, the most common inflammatory pathology was antrochoanal polyps, followed by allergic fungal sinusitis. On the other hand, chronic sinusitis without nasal polyps is the most common in adults, followed by antrochoanal polyps. The mean duration of clinical manifestations before diagnosis in pediatric patients was significantly shorter than that in adults (P=0.001). The most common symptoms in both pediatric and adult patients were anterior nasal discharge and nasal obstruction. Proptosis was significantly higher in pediatric group than in adult group (P=0.015). On computed tomography (CT), the most commonly affected sinus in both pediatric and adult patients was the maxillary sinus followed by the anterior ethmoid sinus. Bone expansion, erosion and involvement of adjacent structures were significantly higher in pediatric patients (P=0.028, 0.027 respectively).
CONCLUSION
Pediatric patients have a high incidence of antrochoanal polyps and allergic fungal sinusitis as unilateral inflammatory lesions. These lesions require surgical management. Inflammatory paranasal sinus lesions in pediatric patients have a shorter duration of clinical manifestations and a higher incidence of bone erosion and involvement of adjacent structures; therefore, early diagnosis and management prevent complications.
PubMed: 38745689
DOI: 10.22038/IJORL.2024.75788.3539 -
Frontiers in Endocrinology 2024To investigate the relationship between bone turnover markers (BTMs) and thyroid indicators in Graves' disease (GD) and to further assess predictive value of changes in...
PURPOSE
To investigate the relationship between bone turnover markers (BTMs) and thyroid indicators in Graves' disease (GD) and to further assess predictive value of changes in early stage retrospectively.
METHODS
We studied 435 patients with GD and 113 healthy physical examiners retrospectively and followed up these two groups of patients after 6 months. We investigated the correlations between BTMs and other 15 observed factors, and analyzed the predictive value of FT and FT before and after treatment (FT-P/FT-A, FT-P/FT-A) on whether BTMs recovered.
RESULTS
The levels of thyroid hormones and BTMs in GD group were significantly higher than those in control group (P < 0.05) and decreased after 6 months of treatment. FT3, W, Ca and ALP were independent factors in predicting the elevation of OST. Duration of disease, FT3, TSH and ALP were independent factors in predicting the elevation of P1NP. Age, duration of disease, TRAb and ALP were independent factors in predicting the elevation of CTX-1. The AUC of FT-P/FT-A and FT-P/FT-A for predicting OST recovery were 0.748 and 0.705 (P < 0.05), respectively, and the cut-off values were 0.51 and 0.595. There was no predictive value for P1NP and CTX-1 recovery (P > 0.05).
CONCLUSION
BTMs were abnormally elevated in GD and were significantly correlated with serum levels of FT3, FT4, TRAb, Ca, and ALP. FT decreased more than 51% and FT dropped more than 59.5% after 6 months of treatment were independent predictors for the recovery of BTMs in GD.
Topics: Humans; Male; Female; Graves Disease; Adult; Biomarkers; Retrospective Studies; Middle Aged; Bone Remodeling; Predictive Value of Tests; Thyroid Gland; Bone and Bones; Thyroid Hormones; Case-Control Studies; Prognosis; Antithyroid Agents; Thyroxine; Triiodothyronine; Follow-Up Studies
PubMed: 38742199
DOI: 10.3389/fendo.2024.1301213 -
Surgical Neurology International 2024Orbital tumors, arising within the bony orbit and its contents, present diverse challenges due to their varied origins and complex anatomical context. These tumors,...
BACKGROUND
Orbital tumors, arising within the bony orbit and its contents, present diverse challenges due to their varied origins and complex anatomical context. These tumors, classified as primary, secondary, or metastatic, are further subdivided into intraconal and extraconal based on their relationship with the muscle cone. This classification significantly influences surgical approach and management. This study highlights surgical experiences with orbital tumors, underscoring the importance of tailored surgical approaches based on the lesion's site and its proximity to the optic nerve.
METHODS
This retrospective study at the National Institute of Cancer's Head and Neck Department (2005-2014) analyzed 29 patients with orbital tumors treated with surgery, radiotherapy, chemotherapy, or combinations of them. Patient demographics, tumor characteristics, and treatment responses were evaluated using computed tomography (CT), magnetic resonance imaging, and positron emission tomography-CT imaging. Malignant tumors often required orbital exenteration and reconstruction, highlighting the study's commitment to advancing orbital tumor treatment.
RESULTS
29 patients (18 females and 11 males, age 18-88 years, mean 53.5 years) with orbital tumors exhibited symptoms such as decreased vision and exophthalmos. Tumors included primary lesions like choroidal melanoma and secondary types like epidermoid carcinoma. Treatments varied, involving a multidisciplinary team for surgical approaches like exenteration, with follow-up from 1 to 9 years. Radiotherapy and chemotherapy were used for specific cases.
CONCLUSION
Our study underscores the need for a multidisciplinary approach in treating orbital tumors, involving various surgical specialists and advanced technologies like neuronavigation for tailored treatment. The integration of surgery with radiotherapy and chemotherapy highlights the effectiveness of multidimensional treatment strategies.
PubMed: 38741993
DOI: 10.25259/SNI_1016_2023