Sister Mary Joseph's Nodule as a Cutaneous Expression of Metastatic Pancreatic Adenocarcinoma.

A Sister Mary Joseph's nodule (SMJN) is characterized by a palpable umbilical nodule and is often a clinical indicator of the metastasis of an advanced abdominal or pelvic malignancy. Observing the cutaneous manifestation of an abdomino-pelvic malignancy is a relatively rare phenomenon due to the appearance of visible changes in the later stages of the disease. With the pancreas being a less common primary tumor site for SMJN, this case report describes a 57-year-old male diagnosed with metastatic pancreatic adenocarcinoma with a SMJN. With a history of alcohol use disorder and alcohol pancreatitis, this patient presented to the Emergency Department with worsening abdominal pain and vomiting. A computed tomography (CT) scan with intravenous (IV) contrast revealed a mass in the patient's rectum and a lobulated mass traversing the anterior abdominal wall, which extended into the umbilicus. A physical exam revealed the presence of an umbilical lesion. A biopsy of the umbilical lesion revealed metastatic adenocarcinoma that favored pancreaticobiliary origin. The results of the umbilical biopsy and CT imaging established the diagnosis of SMJN secondary to pancreatic cancer metastasis to the umbilicus.

Multisystem diseases in the abdomen and pelvis: imaging manifestations and diagnostic roles of cross-sectional imaging.

Systemic diseases, such as IgG4-related disease, sarcoidosis, and amyloidosis, usually involve multiple systems or organs simultaneously or sequentially. The gastrointestinal tract, hepatobiliary system, and genitourinary tract are commonly involved in many multisystem diseases and can also be the first sites with disease involvement. Cross-sectional imaging, such as CT and MR, plays an important role in the diagnosis and management of multisystem diseases by aiding in the evaluation of multiorgan involvement. Here, common imaging features of frequently affected organs are reviewed in multisystem diseases that we often encounter in the abdomen and pelvis, and the diagnostic roles of cross-sectional imaging for these diseases are also discussed.

Non-invasive surrogate markers of pulmonary hypertension are associated with poor survival in patients with cancer.

BACKGROUND: Cancer is one of the leading causes of death worldwide, and cardiopulmonary comorbidities may further adversely affect cancer prognosis. We recently described lung cancer-associated pulmonary hypertension (PH) as a new form of PH and comorbidity of lung cancer. While patients with lung cancer with PH had significantly reduced overall survival compared with patients without PH, the prevalence and impact of PH in other cancers remain unclear. METHODS: In this retrospective, observational cohort study, we analysed the prevalence and impact of PH on clinical outcomes in 1184 patients with solid tumours other than lung cancer, that is, colorectal, head and neck, urological, breast or central nervous system tumours, using surrogate markers for PH determined by CT. RESULTS: PH prevalence in this cohort was 10.98%. A Cox proportional hazard model revealed a significant reduction in the median survival time of patients with cancer with PH (837 vs 2074 days; p<0.001). However, there was no correlation between pulmonary metastases and PH. A subgroup analysis showed that PH was linked to decreased lung and cardiac function. Additionally, PH was associated with systemic arterial hypertension (p<0.001) and coronary artery disease (p=0.014), but not emphysema. CONCLUSIONS: In this study, fewer patients with cancer had surrogate parameters for PH compared with previously published results among patients with lung cancer. Consequently, the prevalence of PH in other cancers might be lower compared with lung cancer; however, PH still has a negative impact on prognosis. Furthermore, our data does not provide evidence that lung metastases cause PH. Thus, our results support the idea that lung cancer-associated PH represents a new category of PH. Our results also highlight the importance of further studies in the field of cardio-oncology.

Role of Cardiac Magnetic Resonance in Inflammatory and Infiltrative Cardiomyopathies: A Narrative Review.

Cardiac magnetic resonance (CMR) has acquired a pivotal role in modern cardiology. It represents the gold standard for biventricular volume and systolic function assessment. Moreover, CMR allows for non-invasive myocardial tissue evaluation, highlighting tissue edema, fibrosis, fibro-fatty infiltration and iron overload. This manuscript aims to review the impact of CMR in the main inflammatory and infiltrative cardiomyopathies, providing details on specific imaging patterns and insights regarding the most relevant trials in the setting.

Clinical Characteristics, Identification, and Treatment of Lichen Planus: A Case Report.

Women are primarily affected by lichen planus, a chronic autoimmune skin and mucosal disorder in their 40s to 60s. Medication, systemic disorders, and mental stress are some of the factors that can cause it, though the precise cause is still unknown. Middle-aged females are the main victims of the disease; children are rarely affected. Oral lichen planus (OLP) is less common in atrophic and erosive forms. There is disagreement over whether OLP causes cancer; therefore physicians need to keep a close watch for any intraoral lichenoid lesions, and patients with OLP are advised to follow up regularly. This case report details a 52-year-old woman's right buccal mucosa and tongue affected by reticular lichen planus.

Livedo-like acute cutaneous graft-versus-host disease in two children.

We present two pediatric patients who exhibited an unusual clinical presentation of cutaneous acute graft-versus-host disease (GVHD), characterized by livedo-like appearance. Such manifestations of cutaneous acute GVHD have not been previously documented.

Systemic diseases affecting the GI tract: A review of clinical and histopathologic manifestations.

A variety of systemic diseases may affect the gastrointestinal (GI) tract. Since the GI tract responds to injury in limited ways, identifying these processes may be challenging, especially on small endoscopic biopsies. This article reviews the clinicopathologic features of commonly encountered systemic diseases affecting the tubular GI tract: sarcoidosis, graft vs. host disease, mast cell disorders, systemic sclerosis, and IgG-4 related disease. In addition, we offer guidance in differentiating them from their mimics.

Linking physiology and demographics, non-ocular pathology and pharmaceutical drug use to standard OCT measures of the inner retina: The PPP project.

PURPOSE: To assess the associations between physiology and demographics, non-ocular pathology and pharmaceutical drug use against peri-papillary retinal nerve fibre layer thickness (pRNFL T) and other optical coherence tomography (OCT) inner retinal measures in normal, healthy eyes. METHODS: A retrospective, cross-sectional study of 705 consecutive participants with bilateral normal, healthy optic nerves and maculae. PRNFL Ts, vertical cup/disc ratio (CDR), cup volume and macular ganglion cell layer-inner plexiform layer (GCL-IPL) Ts were extracted from Cirrus OCT scans, then regressed against predictor variables of participants' physiology and demographics (eye laterality, refraction, intraocular pressure [IOP], age, sex, race/ethnicity, etc.) and non-ocular pathology and pharmaceutical drug use according to the World Health Organisation classifications. Associations were assessed for statistical significance (p < 0.05) and clinical significance (|ß| > 95% limits of agreement for repeated measures). RESULTS: A multitude of non-ocular pathology and pharmaceutical drug use were statistically and clinically significantly associated with deviations in standard OCT inner retinal measures, exceeding the magnitude of other factors such as age, IOP and race/ethnicity. Thinner inner retina and larger optic nerve cup measures were linked to use of systemic corticosteroids, sex hormones/modulators, presence of vasomotor/allergic rhinitis and other diseases and drugs (up to -29.3 [-49.88, -8.72] µm pRNFL T, 0.31 [0.07, 0.54] vertical CDR, 0.29 [0.03, 0.54] mm3 cup volume and -10.18 [-16.62, -3.74] µm macular GCL-IPL T; all p < 0.05). Thicker inner retina and smaller optic nerve cup measures were diffusely associated with use of antineoplastic agents, presence of liver or urinary diseases and other diseases and drugs (up to 67.12 [64.92, 69.31] µm pRNFL T, -0.31 [-0.53, -0.09] vertical CDR, -0.06 [-0.11, 0] mm3 cup volume and 28.84 [14.51, 43.17] µm macular GCL-IPL T; all p < 0.05). CONCLUSION: There are a multitude of systemic diseases and drugs associated with altered OCT inner retinal measures, with magnitudes far exceeding those of other factors such as age, IOP and race/ethnicity. These systemic factors should at least be considered during OCT assessments to ensure precise interpretation of normal versus pathological inner retinal health.

Posterior Uveitis in Ocular-Involving Chronic Lymphocytic Leukemia and the Utility of Negative MYD88 L265P Testing in the Diagnosis.

Introduction: The aim of this study was to investigate if a negative test result for MYD88 L265P mutation, associated with vitreoretinal lymphoma (VRL) and primary CNS lymphoma, in liquid biopsies from intraocular fluids can be a useful adjuvant test to diagnose chronic lymphocytic leukemia in clinically challenging cases. Case Presentations: We selected patients with a past medical history or examinations findings suspicious for intraocular lymphoma. We evaluated both vitreous and aqueous humor-derived (AHD) MYD88 L265P mutation from patients that had suspected intraocular lymphoma that warranted a liquid biopsy procedure. Gold-standard cytopathology, flow cytometry, and gene rearrangement studies were also performed. All 4 patients had negative AHD MYD88 L265P mutation testing. Gold-standard testing (cytology) either showed paucicellular specimens (1/4) or specimens with high background inflammation (3/4). One case showed a rare B-cell clonal population (CD5+, Kappa-restricted by flow cytometry), but this was not sufficient to make any definitive diagnosis. All patients were subsequently initiated on systemic therapy and had improvement in their disease burden. Conclusions: Negative AHD MYD88 L265P mutation testing can serve as an adjuvant molecular test to diagnose difficult cases of intraocular CLL.

Mucopolysaccharidosis type II B complicated by optic disc swelling, pigmentary retinopathy and macular edema.

PURPOSE: To report clinical and imaging features of optic nerve and retinal involvement in a patient with mucopolysaccharidosis (MPS) type II B. METHODS: A 27-year-old man, diagnosed with MPS type II B and undergoing enzymatic substitution therapy for the past 19 years, was referred to the retina service. An ophthalmological evaluation, which included multimodal imaging, was conducted to investigate potential retinal and optic disc involvement. RESULTS: The eye examination revealed a pigmentary retinopathy with a predominant loss of the outer retinal loss, primarily in the parafoveal and perifoveal regions. Notably, multimodal imaging identified macular edema without any signs of leakage, implying an association between macular edema and retinal neurodegeneration. Additionally, both eyes exhibited an optic disc with blurred margins. CONCLUSION: We herein describe the multimodal imaging findings of retinal and optic disc involvement in a patient with MPS type II B. This report describes for the first-time the presence of macular edema without leakage alongside photoreceptor damage and optic disc swelling.

A peripheral system disease-Pulmonary hypertension.

Pulmonary hypertension (PH) is a cardiovascular disorder characterized by substantial morbidity and mortality rates. It is a chronic condition characterized by intricate pathogenesis and uncontrollable factors. We summarized the pathological effects of estrogen, genetics, neuroinflammation, intestinal microbiota, metabolic reorganization, and histone modification on PH. PH is not only a pulmonary vascular disease, but also a systemic disease. The findings emphasize that the onset of PH is not exclusively confined to the pulmonary vasculature, consequently necessitating treatment approaches that extend beyond targeting pulmonary blood vessels. Hence, the research on the pathological mechanism of PH is not limited to target organs such as pulmonary vessels, but also focuses on exploring other fields (such as estrogen, genetics, neuroinflammation, intestinal microbiota, metabolic reorganization, and histone modification).

A Step towards understanding coronary artery disease: a complication in idiopathic pulmonary fibrosis.

BACKGROUND: Idiopathic pulmonary fibrosis (IPF) is a relatively rare disease with increasing incidence trends. Cardiovascular disease is a significant complication in IPF patients due to the role of common proatherogenic immune mediators. The prevalence of coronary artery disease (CAD) in IPF and the association between these distinct pathologies with overlapping pathophysiology remain less studied. RESEARCH QUESTION: We hypothesised that IPF is an independent risk factor for CAD. METHODS: We conducted a retrospective case-control study using the national inpatient sample (2017-2019). We included adult hospitalisations with IPF after excluding other interstitial lung diseases and other endpoints of CAD, acute coronary syndrome and old myocardial infarction. We examined their baseline characteristics, such as demographic data, hospital characteristics and socioeconomic status. The prevalence of cardiac risk factors and CAD was also compared between hospitalisations with and without IPF. Univariate and multivariate regression analysis was further performed to study the odds of CAD with IPF. The cases of IPF in the study population were propensity-matched, after which generalised linear modelling analysis was performed to validate the findings. RESULTS: A total of 116 010 admissions were hospitalised in 2017-2019 with IPF, of which 55.6% were men with a mean age of 73 years. Adult hospitalisations with IPF were found to have a higher prevalence of diabetes mellitus (29.3% vs 24.0%; p<0.001), hypertension (35.6% vs 33.8%; p<0.001), hyperlipidaemia (47.7% vs 30.2%; p<0.0001) and tobacco abuse (41.7% vs 20.9%; p<0.001), while they had a lower prevalence of obesity (11.7% vs 15.3%; p<0.0001) compared with hospitalisations without IPF. Multivariate logistic regression analysis revealed 28% higher odds of developing CAD in IPF hospitalisations (OR -1.28; CI 1.22 to 1.33; p<0.001). Postpropensity matching, generalised linear modelling analysis revealed even higher odds of CAD with IPF (OR -1.77; CI 1.54 to 2.02; p<0.001) CONCLUSIONS: Our study found a higher prevalence of CAD in IPF hospitalisations and significantly higher odds of CAD among IPF cases. IPF remains a terminal lung disease that portends a poor prognosis, but addressing the cardiovascular risk factors in these patients can help reduce the case fatality rate due to the latter and potentially add to quality-adjusted life years.

Heimler syndrome with a complaint of blurred vision caused by compound heterozygous variants in PEX1.

INTRODUCTION: Heimler syndrome (HS) is a rare disorder that includes sensorineural hearing loss (SNHL), nail abnormalities, and enamel hypoplasia. Patients with this syndrome can also exhibit ocular manifestations. At present, only a few cases of HS have been reported, existing knowledge of this syndrome is limited, and many cases have been misdiagnosed or even missed. This is the first report of Heimler syndrome with blurred vision as the first complaint, which was diagnosed by genetic analysis in the ophthalmology department. CASE DESCRIPTION: An 8-year-old girl complained of bilateral visual blur and night blindness from birth. Ophthalmic examinations revealed bilateral retinitis pigmentosa with cystoid macular edema, visual impairment with hyperopia and astigmatism. Hearing test revealed bilateral severe sensorineural hearing loss. Dental examinations revealed enamel hypoplasia. In addition, whole-exome sequencing (WES) identified two pathogenic variants in PEX1: the previously reported missense variant c.2966T > C (p.I989 T), and the novel frameshift variant c.1671_1672del (p.G558Sfs*33). CONCLUSION: Heimler syndrome is caused by compound heterozygous PEX1 pathogenic variants, c.2966T > C (p.I989 T) and c.1671_1672del (p.G558Sfs*33), which contributed to the diversity of clinical and genetic profiles in this patient. The main clinical manifestations include bilateral retinitis pigmentosa with cystoid macular edema, sensorineural hearing loss, and enamel hypoplasia. Systemic examinations are suggested for patients suspected of having pigmentary retinal dystrophy, especially combined with hearing-related impairments. Genetic testing can help us to make a definitive diagnosis.

Surgical outcomes of laser in situ keratomileusis (LASIK) in patients with stable systemic disease.

PURPOSE: To evaluate the surgical outcome in terms of safety, efficacy, predictability, and retreatment rate of LASIK surgery in patients with controlled systemic diseases in comparison with healthy individuals. METHODS: The retrospective study included data from 1936 eyes of 976 patients with stable systemic diseases who underwent LASIK surgery between January 2016 and June 2019. The safety, efficacy, predictability of the surgery, and retreatment rate were evaluated in comparison with a control group comprising 1951 patients. The study was approved by the local ethics committee and adhered to the principles of the Declaration of Helsinki. Statistical analysis was performed using R team and the level of statistical significance was set at p < 0.05. RESULTS: All treatment groups demonstrated high safety and efficacy indices after LASIK surgery. Furthermore, the study arms demonstrated comparable predictability and retreatment rates to the control group in nearly all cases. Retreatment rates were significantly higher in the rheumatoid arthritis group (p = 0.03), while safety indices were significantly lower in the hay fever group compared to the control group (p = 0.004). No intra- or postoperative sight-threatening complications were documented. CONCLUSION: Our findings suggest that selected patients with stable systemic conditions can safely undergo LASIK surgery and achieve comparable outcomes to healthy individuals. Further research is needed to better understand the treatment outcomes in this challenging patient population.

Chronic Effects of e-Cigarette Aerosol Inhalation on Macular Perfusion Assessed Using OCT Angiography.

Purpose: To determine whether there are significant differences in the microvasculature and central retinal thickness (CRT) between e-cigarette users (user group) and age-matched nonusers (control group) using optical coherence tomography angiography (OCTA). Methods: In this prospective cross-sectional observational study, OCTA images were acquired of 52 eyes of 26 users and 25 eyes of 25 age-matched nonusers. Daily e-cigarette users with no ocular history were identified from provider information in the electronic medical record. A custom algorithm was used to calculate the foveal avascular zone (FAZ), vessel area density (VAD), and vessel length density (VLD). OCT software was used to calculate the foveal, superior, inferior, nasal, and temporal CRT. Generalized estimating equations using the Z-statistic were used to determine how the FAZ, VAD, VLD, and CRT parameters varied between groups and to assess the differential contribution of descriptive data in the user group. Results: No statistically significant difference was found between the user group and control group in the FAZ, superficial vascular complex (SVC) VAD, SVC VLD, or deep vascular complex (DVC) VAD. A statistically significant difference was found for DVC VLD (P = .002), with the user group having a slightly higher VLD on average. Superior, temporal, and inferior inner macular thicknesses were significantly thinner in the user group (P = .038, P = .012, and P = .035, respectively). Conclusions: Significant negative differences were found in CRT measures but not in retinal microvasculature parameters between e-cigarette users and nonusers. Decreased inferior, temporal, and superior inner macular thickness in e-cigarette users may show an early chronic structural effect that warrants further assessment of retinal effects as this population ages and continues to use e-cigarettes.

Periodontal Disease, Tooth Loss, and Systemic Conditions: An Exploratory Study.

BACKGROUND: Although systemic medical conditions are associated with periodontitis and tooth loss, large-scale studies that include less prevalent systemic conditions are needed. The purpose of the study was to investigate the link between periodontal disease and tooth loss with systemic medical conditions in a large and diverse population. METHODS: Dental charts of adult patients who had attended the dental clinics seeking dental therapy of the universities contributing data to the BigMouth network and accepted the protocol of the study were included. Dental Procedure Codes and Current Procedural Terminology procedures were utilised to identify patients with and without periodontitis. Data were extracted from patients' electronic health records including demographic characteristics, dental procedural codes, and self-reported medical conditions as well as the number of missing teeth. RESULTS: A total of 108,307 records were ultimately included in the analysis; 42,377 of them included a diagnosis of periodontitis. The median age of the included population was 47.0 years, and 55.2% were female. Older and male individuals were significantly more likely to be in the periodontitis group and have higher number of missing teeth. A number of systemic conditions are associated with periodontitis and a higher number of missing teeth. High blood pressure, smoking, drug use, and diabetes were all found to be significant. Other significant conditions were anaemia, lymphoma, glaucoma, dialysis, bronchitis, sinusitis hepatitis, and asthma. CONCLUSIONS: Within the limitations of this retrospective study that utilised the BigMouth dental data repository, the association of a number of systemic conditions such as smoking, diabetes, and hypertension with periodontitis and tooth loss has been confirmed. Additional connections have been highlighted for conditions that are not commonly reported in the literature.

Association between serum high-density lipoprotein cholesterol and lung function in adults: three cross-sectional studies from US and Korea National Health and Nutrition Examination Survey.

INTRODUCTION: Cholesterol is an irreplaceable nutrient in pulmonary metabolism; however, studies on high-density lipoprotein cholesterol (HDL-C) levels have shown conflicting results regarding lung function. Therefore, we investigated the association between lung function and HDL-C levels in three cross-sectional studies conducted in the USA and South Korea. METHODS: US National Health and Nutrition Examination Survey (NHANES) III, US NHANES 2007-2012, and Korea National Health and Nutrition Examination Survey (KNHANES) IV-VII performed spirometry and met the American Thoracic Society recommendations. Multiple linear regression models were used to determine the relationship between serum lipid levels and lung function. The models were adjusted for age, sex, household income, body mass index, smoking pack year, use of lipid-lowering medication and race. Serum HDL-C levels were classified into three groups to assess the dose-response relationship according to the guideline from the National Cholesterol Education Program-Adult Treatment Panel III. RESULTS: The adult participants of the KNHANES (n=31 288), NHANES III (n=12 182) and NHANES 2007-2012 (n=9122) were analysed. Multivariate linear regression analysis of the serum cholesterol profiles revealed that only serum HDL-C was associated with forced vital capacity (FVC) and forced expiratory volume in 1 s (FEV1) in all three studies. A 1 SD increase in the HDL-C level increased the percent predicted FVC by 0.5%-1.5% p, and the per cent predicted FEV1 by 0.5%-1.7% p. In terms of HDL-C levels, correlations between the HDL-C groups and the per cent predicted FVC and FEV1 showed dose-response relationships. Compared with the normal group, high HDL-C levels increased FVC by 0.75%-1.79% p and FEV1 by 0.55%-1.90% p, while low levels led to 0.74%-2.19% p and 0.86%-2.68% p reductions in FVC and FEV1, respectively. Subgroup analyses revealed weaker associations in females from KNHANES and NHANES III. CONCLUSION: In the three nationwide cross-sectional studies, high HDL-C levels were associated with improved FVC and FEV1. However, future studies are needed to confirm this correlation and elucidate the underlying mechanisms.