Recent-onset Disease Research Articles

Microglia Density and Its Association With Disease Duration, Severity, and Orexin Levels in Patients With Narcolepsy Type 1.

Narcolepsy type 1 (NT1) is due to the loss of hypothalamic neurons that produce orexin (ORX), by a suspected immune-mediated process. Rare postmortem studies are available and failed to detect any inflammation in the hypothalamic region, but these brains were collected years after the first symptoms. In vivo studies close to disease onset are lacking. We aimed to explore microglia density in the hypothalamus and thalamus in NT1 compared with controls using [18F]DPA-714 PET and to study in NT1 the relationships between microglia density in the hypothalamus and in other regions of interest (ROIs) with disease duration, severity, and ORX levels. Patients with NT1 and controls underwent a standardized clinical evaluation and [18F]DPA-714 PET imaging using a radiolabeled ligand specific to the 18 kDa translocator protein (TSPO). TSPO genotyping determined receptor affinity. Images were processed on peripheral module interface using standard uptake value (SUV) on ROIs: hypothalamus, thalamus, frontal area, cerebellum, and the whole brain. SUV ratios (SUVr) were calculated by normalizing SUV with cerebellum uptake. A total of 41 patients with NT1 (21 adults, 20 children, 10 with recent disease onset <1 year) and 35 controls were included, with no significant difference between groups for [18F]DPA-714 binding (SUV/SUVr) in the hypothalamus and thalamus. Unexpectedly, significantly lower SUVr in the whole brain was found in NT1 compared with controls (0.97 ± 0.06 vs 1.08 ± 0.22, p = 0.04). The same finding between NT1 and controls in the whole brain was observed in those with high or mixed TSPO affinity (p = 0.03 and p = 0.04). Similar trend was observed in the frontal area in NT1 (0.96 ± 0.09 vs 1.09 ± 0.25, p = 0.05). In NT1, no association was found between SUVr in different ROIs and age, disease duration, severity, or ORX levels. We found no evidence of in vivo increased microglia density in NT1 compared with controls, even close to disease onset, and even unexpectedly a decrease in the whole brain of these patients. These findings do not support the presence of neuroinflammation in the destruction process of ORX neurons. ClinicalTrials.org NCT03754348.

CD7 activation regulates cytotoxicity-driven pathology in systemic sclerosis, yielding a target for selective cell depletion

ObjectivesCytotoxic T cells and natural killer (NK) cells are central effector cells in cancer and infections. Their effector response is regulated by activating and inhibitory receptors. The regulation of these...

Multimodal assessment of mitochondrial function in Parkinson's disease.

The heterogenous aetiology of Parkinson's disease is increasingly recognized; both mitochondrial and lysosomal dysfunction have been implicated. Powerful, clinically applicable tools are required to enable mechanistic stratification for future precision medicine approaches. The aim of this study was to characterize bioenergetic dysfunction in Parkinson's disease by applying a multimodal approach, combining standardized clinical assessment with midbrain and putaminal 31-phosphorus magnetic resonance spectroscopy (31P-MRS) and deep phenotyping of mitochondrial and lysosomal function in peripheral tissue in patients with recent-onset Parkinson's disease and control subjects. Sixty participants (35 patients with Parkinson's disease and 25 healthy controls) underwent 31P-MRS for quantification of energy-rich metabolites [ATP, inorganic phosphate (Pi) and phosphocreatine] in putamen and midbrain. In parallel, skin biopsies were obtained from all research participants to establish fibroblast cell lines for subsequent quantification of total intracellular ATP and mitochondrial membrane potential (MMP) as well as mitochondrial and lysosomal morphology, using high content live cell imaging. Lower MMP correlated with higher intracellular ATP (r = -0.55, P = 0.0016), higher mitochondrial counts (r = -0.72, P < 0.0001) and higher lysosomal counts (r = -0.62, P = 0.0002) in Parkinson's disease patient-derived fibroblasts only, consistent with impaired mitophagy and mitochondrial uncoupling. 31P-MRS-derived posterior putaminal Pi/ATP ratio variance was considerably greater in Parkinson's disease than in healthy controls (F-tests, P = 0.0036). Furthermore, elevated 31P-MRS-derived putaminal, but not midbrain Pi/ATP ratios (indicative of impaired oxidative phosphorylation) correlated with both greater mitochondrial (r = 0.37, P = 0.0319) and lysosomal counts (r = 0.48, P = 0.0044) as well as lower MMP in both short (r = -0.52, P = 0.0016) and long (r = -0.47, P = 0.0052) mitochondria in Parkinson's disease. Higher 31P-MRS midbrain phosphocreatine correlated with greater risk of rapid disease progression (r = 0.47, P = 0.0384). Our data suggest that impaired oxidative phosphorylation in the striatal dopaminergic nerve terminals exceeds mitochondrial dysfunction in the midbrain of patients with early Parkinson's disease. Our data further support the hypothesis of a prominent link between impaired mitophagy and impaired striatal energy homeostasis as a key event in early Parkinson's disease.

BH15 Efficacy and safety of baricitinib in the management of severe alopecia areata over a 6-month period: a real-world experience

Abstract Alopecia areata (AA) is an autoimmune condition that targets the hair follicles, causing nonscarring hair loss. It can manifest with different patterns, ranging from discrete bald patches on the scalp to complete loss of body hairs. Despite being considered a disease of purely aesthetic concern, recent data support its systemic nature. In June 2022, baricitinib, an oral selective inhibitor of Janus kinases 1 and 2, was the first US Food and Drug Administration-approved systemic treatment for adult patients with severe AA. Our objective was to present the efficacy and safety of baricitinib in the management of adult patients with severe AA in real practice at 24 weeks. All consecutive adult patients diagnosed with severe AA, who were started on baricitinib in our specialist hair clinic, and completed 24 weeks of treatment were eligible. Access to baricitinib was granted after approval by the national organization for the provision of health services on a case-by-case basis. Demographic data, disease history, previous treatments for AA and comorbidities were documented. Severity of Alopecia Tool (SALT) score, loss of eyebrows/eyelashes, hair loss in other parts of the body and nail involvement were also assessed. Patients completed the Dermatology Life Quality Index (DLQI), Patient Health Questionnaire (PHQ)-9 and Generalised Anxiety Disorder Assessment (GAD-7) at each visit. Safety profile was also assessed. Visits were performed at T1 (4 weeks), T2 (8 weeks), T3 (12 weeks) and T4 (24 weeks). Ten patients were included in the analysis. The male-to-female ratio was 3 : 2. Mean patient age was 34.8 years. All were White. Sixty per cent of patients had alopecia universalis/totalis, 30% had ophiasis and 10% had patchy alopecia. Mean disease duration was 6.1 years. The most common comorbidities were depression and anxiety. Baseline mean SALT score was 82, which decreased significantly at weeks 8, 12 and 24. Ninety per cent had eyebrow/eyelash regrowth. Patients with more recent disease onset responded quicker than those with a more chronic disease course. Nail involvement was noted in 30% of patients, which improved in all of them at week 24. There was a significant decrease in PHQ-9, GAD-7 and DLQI scores at weeks 8, 12 and 24. Forty per cent of patients developed an acneiform rash, 30% an upper respiratory infection, 10% a vaginal infection, 40% transient raised creatine kinase, 20% dyslipidaemia and 20% transient neutropenia and anaemia. Our real-world data showed a quick onset of action for baricitinib and encouraging results in terms of efficacy at week 24. Safety profile was acceptable, with many of the adverse events being transient and not requiring treatment. No severe adverse events were noted. Studies with a larger number of patients and longer duration of treatment are needed to assess the long-term efficacy and safety of baricitinib in everyday clinical practice. Finally, national registries for patients with AA could play a crucial role.

Responsiveness of the International Spinal Cord Injury Quality of Life Basic Data Set V2.0: An international longitudinal study

Context/Objective Examine the sensitivity of the International Spinal Cord Injury Quality of Life Basic Data Set V2.0 (QoL-BDS V2.0) to reflect changes in mobility and secondary health conditions (SHCs) between inpatient rehabilitation and one-year follow-up. Design International longitudinal study. Questionnaires were administered at baseline (Median 6 weeks, inter-quartile range 4–10 weeks post-onset) and after 12 months. Setting Spinal cord rehabilitation institutions in the US, Brazil, Australia and the Netherlands. Participants : Individuals with recent onset of spinal cord injury or disease (SCI/SCD) admitted to inpatient rehabilitation. Outcome measures The QoL-BDS V2.0, comprises four items on satisfaction with ‘life as a whole’, ‘physical health’, ‘psychological health’, and ‘social life’. Mobility level was measured with a single item and SHCs with the SCI Secondary Conditions Scale (SCI-SCS). Results Of the 160 participants, 61% had SCI, 48% had tetraplegia and 82% were wheelchair-users. Scores on ‘life as a whole’, ‘physical health’ and the total scale were significantly higher at follow-up compared to baseline in the total sample and the SCD subgroup, but not in the SCI subgroup. Increases in ‘physical health’, ‘psychological health’, ‘social life’ and the total score were significantly associated with improvements in the SCI-SCS or mobility scores. Participants with improved SCI-SCS and mobility at follow-up showed significantly more improvement in satisfaction with social life and the total score compared to participants without such favorable changes. Conclusion The results of this study provide partial evidence of responsiveness of the QoL-BDS V2.0 total score as a measure of QoL among individuals with SCI/SCD.

Factors Associated With Household Work Limitations in Mexican Patients With Rheumatoid Arthritis: The Impact of the Disease on Women's Life.

Little attention has been given to the impact of rheumatoid arthritis (RA) on domestic work, which remains the domain of women, particularly in the Latin American region. The study identified factors associated with RA-related household work limitations (HOWL) in Mexican for women with long-standing disease. This cross-sectional study was performed between September 2020 and April 2022, in patients from the recent-onset RA cohort (initiated in 2004). At study entry, patients had standard rheumatic assessments and were administered the HOWL questionnaire, a survey to assess family responsibilities, household work characteristics, and the patient's economic dependency, and the family APGAR index to assess family function. Multiple logistic regression analysis identified variables associated with RA-related HOWL. Data from 114 female RA patients were analyzed. Overall, at cohort entry, patients were middle-aged (median, 37.5 years), with 12 years of education, and the minority (n = 42 [39.3%]) were married or living together. Patients were representative of typical patients with recent-onset disease and had significant disease activity. At study entry, the patients had 12 (7-16) years of disease duration, and their disease was under control. The median (interquartile range) HOLW-Q score was 0.67 (0-3.33), and 33 patients (28.9%) had RA-related HOWL. Receiving financial support for family living expenses, requiring assistance for activities of daily living, and DAS28 (Disease Activity Score, 28 joints evaluated) were associated with RA-related HOWL; meanwhile, a better Short-Form 36 score at disease onset was protective. Domestic work in Mexican RA women might be impacted by social determinants, health-related quality of life at disease onset, and current disease activity status.

Serum serotonin levels are elevated in patients with increased risk of rheumatoid arthritis.

Even though serotonin (5-HT) has been ascribed immunomodulatory features, very little is known about its role in chronic inflammatory diseases. Serotonin is implicated in inflammation and increased levels have been associated with progression of bone erosions in RA. To investigate serum serotonin levels in patients with increased risk of rheumatoid arthritis (RA) and patients with recent-onset disease. Moreover, we aimed to determine the prognostic value of serotonin for arthritis development and the disease course. Two prospective observational patient cohorts were studied; anti-citrullinated protein antibody (ACPA) -positive patients with musculoskeletal pain without clinical arthritis (n = 82) and patients with early RA (n = 412). Serotonin levels were measured by enzyme-linked immunosorbent assay (ELISA) in baseline serum samples from both cohorts, and longitudinally in at-risk individuals. Compared to healthy controls (median 65 ng/ml), serotonin levels were significantly higher in both at-risk individuals (median 111 ng/ml, p < 0.0001) and patients with early RA (median 135 ng/ml, p < 0.0001). No significant differences were found between at-risk individuals and patients with early RA. At-risk individuals progressing to arthritis had similar levels as those not progressing, and no significant differences were seen over time. Baseline levels in early RA did not associate with mean 28-joint disease activity scores during 3 years follow-up. Serum serotonin levels are elevated both at, and prior to, onset of RA. However, increased serotonin is not prognostic for arthritis development or disease course.

Traitements médicaux dans la neuropathie optique héréditaire de Leber

Leber's hereditary optic neuropathy (LHON) is a maternally inherited disease caused by a mutation of mitochondrial DNA. LHON targets retinal ganglion cells (RGC), whose axons form the optic nerve. The mutation that leads to LHON is silent until an unknown trigger causes dysfunction of complex I in the mitochondria of RGC. This results in discontinuation of RGC energy production and, eventually, RGC apoptosis. Patients experience bilateral sequential central scotoma over the course of a few months, with a minority recovering some vision more than 1 year after the onset of visual loss.No pharmacological treatment is recommended unless patients are symptomatic in at least one eye, as most LHON mutation carriers never experience visual loss. Research has been focused on treatments that are thought to restore the mitochondrial electron transport chain in RGC in patients with recent disease onset (<1 year). Significant advances have been made in evaluating free radical cell scavengers and gene therapy as potential treatments for LHON. Although promising, the results of clinical trials have been mixed. In patients with chronic visual loss for more than 1 year, treatment that restores vision is yet to be discovered.In this review, we summarize management strategies for patients with LHON before, during, and after the loss of vision, explain the rationale and effectiveness of previous and current treatments, and report findings about emerging treatments.

Impact of inflammatory phenotype on prognostic discrimination for the novel biomarker cellular communication network factor 1 (CCN1) in patients with dilated cardiomyopathy

Abstract Objective Circulating cellular communication network factor 1 (CCN1) improves risk stratification in ACS patients and, as we have recently shown, predicts all-cause mortality in patients with dilated cardiomyopathy (DCM). It was the aim of this study to evaluate whether the prognostic role of CCN1 is influenced by an inflammatory phenotype. Methods Patients with a primary diagnosis of DCM, defined as LVEF &amp;lt;45% and an increased LVEDD (according to HENRY &amp;gt;117%), were included in this single-center study. Exclusion criteria comprised primary valvular diseases (≥second degree), acute myocarditis, active infectious diseases, pulmonary diseases, cancer, chronic alcoholism, and heart failure of other origins. CCN1 levels were determined in serum at study inclusion using an enzyme-linked immunosorbent assay. The primary endpoint was all-cause mortality during follow-up. An adjusted multivariable cox regression model was used to assess the association between CCN1 and all-cause mortality. We further analysed potential effect modifications by adding either an interaction term between CCN1 and DCMi diagnosis (DCMi vs. DCM). The Meta-Analysis Global Group in Chronic Heart Failure (MAGGIC) score to predict all-cause mortality in HF patients was used as a reference model. The performance of CCN1 in combination with the MAGGIC score and NT-proBNP to predict all-cause mortality was assessed using Cox's proportional-hazards models Results A total of 283 predominantly male DCM patients (78.5% males) with a median age of 55.7 (interquartile range [IQR 48.2, 65.7]) years and predominantly recent onset of disease (3.8 [IQR 1.1, 20.5] months) with a severely reduced LVEF (31 [IQR 25, 37] %), increased LVEDD (67.0 [IQR 62.8, 72.0] mm), and normal eGFR (CKD-EPI) (90.9 [IQR73.9, 102.4] ml/min) were analyzed. During a median follow-up of 12.4 [IQR 10.5, 14.0] years, a total of 107 (37.8%) patients died. Patients in the highest CCN1 tertile had a significantly higher mortality risk than those in the lower tertile (HR 1.82; 95% CI 1.06, 3.14; P=0.030) in adjusted multivariable Cox regression models. Adding CCN1 to the MAGGIC risk score improved c-statistics for prognostic accuracy of all-cause mortality at 6 years (0.624 to 0.645, p=0.012), unlike NT-proBNP (0.624 to 0.630, p=0.123). Patients classified as DCMi (n=128) had significantly lower CCN1 levels compared with classical DCM (n=155) (154.9 (115.4–191.7) vs. 174.7 (130.0–241.0) pg/ml, P=0.022). Inflammation status (DCMi vs DCM) had no significant impact (P interaction = 0.28) on the association of CCN1 and all-cause mortality (Fig. 1). Conclusion CCN1 independently predicts all-cause mortality in DCM patients and improves risk stratification beyond the MAGGIC score. In this pilot cohort, the inflammatory phenotype had no impact on prognostic discrimination. Data are currently analyzed in a validation cohort. Funding Acknowledgement Type of funding sources: Foundation. Main funding source(s): Kerckhoff Research Foundation

Assessing the role of stressful life events in the induction and recurrence of alopecia areata: A case-control study

Assessing the role of stressful life events in the induction and recurrence of alopecia areata: A case-control study

Increased Expression of Viral Sensor MDA5 in Pancreatic Islets and in Hormone-Negative Endocrine Cells in Recent Onset Type 1 Diabetic Donors.

The interaction between genetic and environmental factors determines the development of type 1 diabetes (T1D). Some viruses are capable of infecting and damaging pancreatic β-cells, whose antiviral response could be modulated by specific viral RNA receptors and sensors such as melanoma differentiation associated gene 5 (MDA5), encoded by the IFIH1 gene. MDA5 has been shown to be involved in pro-inflammatory and immunoregulatory outcomes, thus determining the response of pancreatic islets to viral infections. Although the function of MDA5 has been previously well explored, a detailed immunohistochemical characterization of MDA5 in pancreatic tissues of nondiabetic and T1D donors is still missing. In the present study, we used multiplex immunofluorescence imaging analysis to characterize MDA5 expression and distribution in pancreatic tissues obtained from 22 organ donors (10 nondiabetic autoantibody-negative, 2 nondiabetic autoantibody-positive, 8 recent-onset, and 2 long-standing T1D). In nondiabetic control donors, MDA5 was expressed both in α- and β-cells. The colocalization rate imaging analysis showed that MDA5 was preferentially expressed in α-cells. In T1D donors, we observed an increased colocalization rate of MDA5-glucagon with respect to MDA5-insulin in comparison to nondiabetic controls; such increase was more pronounced in recent-onset with respect to long-standing T1D donors. Of note, an increased colocalization rate of MDA5-glucagon was found in insulin-deficient-islets (IDIs) with respect to insulin-containing-islets (ICIs). Strikingly, we detected the presence of MDA5-positive/hormone-negative endocrine islet-like clusters in T1D donors, presumably due to dedifferentiation or neogenesis phenomena. These clusters were identified exclusively in donors with recent disease onset and not in autoantibody-positive nondiabetic donors or donors with long-standing T1D. In conclusion, we showed that MDA5 is preferentially expressed in α-cells, and its expression is increased in recent-onset T1D donors. Finally, we observed that MDA5 may also characterize the phenotype of dedifferentiated or newly forming islet cells, thus opening to novel roles for MDA5 in pancreatic endocrine cells.

December 2021 Pulmonary Case of the Month: Interstitial Lung Disease with Red Knuckles

No abstract available. Article truncated after 150 words. History of Present Illness A 56-year-old man was referred for a second opinion on recent onset of diffuse parenchymal lung disease. He had started noting mild dyspnea with yard work approximately in March 2021. His symptoms progressed over the next month with increasing shortness of breath and some fever. He presented to outside emergency department on April 17, 2021 and chest CT showing patchy ground-glass opacities with some areas of irregular consolidation (Figure 1). He was subsequently seen by an outside pulmonologist and started empirically on prednisone (50 mg/day). An outside lung biopsy had been performed which showed nonspecific interstitial pneumonitis. There was some improvement in his symptoms and his prednisone dose was reduced to 20 mg/day; however, his symptoms subsequently worsened with saturations noted to drop to 85% with any ambulation. He also had swelling of his left face and a biopsy of the parotid gland with the findings …

Impact of the Consequent Containment of Corona Virus on the Frequency of Aggressions in Maxillofacial and Aesthetic Surgery in Marrakesh

On January, the World Health Organization declared that COVID19 was a public health emergency with a currently known overall mortality rate which could be reach 3.4%. The study is retrospective and prospective, comparing two months, 1 month before confinement and 1 month during confinement. The research was conducted within the maxillofacial surgery department of Ibn TOFAIL Hospital at Mohamed VI University Hospital in Marrakech. 1 month before the lockdown, we registered 284 assault patients, who were reported to the total admitted of 1360. 1 month since the establishment of the state of emergency by the Moroccan government, encouraging confinement linked to the Covid 19 infection, we have reported 68 cases of aggression on a global workforce of 360 patients. Since the declaration of confinement in the world as a mode of prevention of COVID-19 infection in the great majority of countries, it has been observed a huge decrease in the number of road accidents, assaults and violence among which maxillofacial aggressions. COVID-19 is a disease of recent onset and very rapid spread that has traced an indisputable impact on the health profile in the world.

Vitiligo: An Updated Narrative Review.

Vitiligo is a relatively common acquired pigmentation disorder that can cause significant psychological stress and stigmatism. This article aims to familiarize physicians with the clinical manifestations, evaluation, diagnosis, and management of vitiligo. A Pubmed search was conducted in Clinical Queries using the key term "vitiligo". The search included meta-analyses, randomized controlled trials, clinical trials, observational studies, and reviews. The search was restricted to English language. The information retrieved from the above search was used in the compilation of the present article. Approximately one quarter of patients with vitiligo have the onset before 10 years of age. Genetic, immunological, neurogenic and environmental factors may have a role to play in the pathogenesis. Vitiligo typically presents as acquired depigmented, well-demarcated macules/patches that appear milk- or chalk-white in color. Lesions tend to increase in number and enlarge centrifugally in size with time. Sites of predilection include the face, followed by the neck, lower limbs, trunk, and upper limbs. The clinical course is generally unpredictable. In children with fair skin, no active treatment is usually necessary other than the use of sunscreens and camouflage cosmetics. If treatment is preferred for cosmesis, topical corticosteroids, topical calcineurin inhibitors, and narrowband ultraviolet B phototherapy are the mainstays of treatment. The therapeutic effect of all the treatment modalities varies considerably from individual to individual. As such, treatment must be individualized. In general, the best treatment response is seen in younger patients, recent disease onset, darker skin types, and head and neck lesions. Topical corticosteroids and calcineurin inhibitors are the treatment choice for those with localized disease. Topical calcineurin inhibitors are generally preferred for lesions on genitalia, intertriginous areas, face, and neck. Narrowband ultraviolet B phototherapy should be considered in patients who have widespread vitiligo or those with localized vitiligo associated with a significant impact on the quality of life who do not respond to treatment with topical corticosteroids and calcineurin inhibitors.

Functional brain imaging using 18F-fluorodeoxyglucose positron emission tomography/computerized tomography in 138 patients with Kleine-Levin syndrome: an early marker?

Kleine–Levin syndrome is a rare disorder characterized by relapsing-remitting episodes of severe hypersomnia, cognitive impairment, apathy, derealization and behavioural disturbances. Between episodes, most patients experience normal sleep, mood and behaviour, but they may have some residual abnormalities in brain functional imaging; however, the frequency, localization and significance of abnormal imaging are unknown, as brain functional imaging have been scarce and heterogenous [including scintigraphy 18F-fluorodeoxyglucose positron emission tomography/computerized tomography (FDG-PET/CT) and functional MRI during resting state and cognitive effort] and based on case reports or on group analysis in small groups. Using visual individual analysis of 18F-fluorodeoxyglucose positron emission tomography/computerized tomography at the time of Kleine–Levin syndrome diagnosis, we examined the frequency, localization and clinical determinants of hypo- and hypermetabolism in a cross-sectional study. Among 179 patients with Kleine–Levin syndrome who underwent 18F-fluorodeoxyglucose positron emission tomography/computerized tomography, the visual analysis was restricted to the 138 untreated patients studied during asymptomatic periods. As many as 70% of patients had hypometabolism, mostly affecting the posterior associative cortex and the hippocampus. Hypometabolism was associated with younger age, recent (<3 years) disease course and a higher number of episodes during the preceding year. The hypometabolism was more extensive (from the left temporo-occipital junction to the entire homolateral and then the bilateral posterior associative cortex) at the beginning of the disorder. In contrast, there was hypermetabolism in the prefrontal dorsolateral cortex in half of the patients (almost all having concomitant hypometabolism in the posterior areas), which was also associated with younger age and shorter disease course. The cognitive performances (including episodic memory) were similar in patients with versus without hippocampus hypometabolism. In conclusion, hypometabolism is frequently observed upon individual visual analysis of 18F-fluorodeoxyglucose positron emission tomography/computerized tomography during asymptomatic Kleine–Levin syndrome periods; it is mostly affecting the posterior associative cortex and the hippocampus and is mostly in young patients with recent-onset disease. Hypometabolism provides a trait marker during the first years of Kleine–Levin syndrome, which could help clinicians during the diagnosis process.

Cutaneous manifestations are frequent and diverse among patients with rheumatoid arthritis and impact their quality of life: a cross-sectional study in a cohort of patients with recent-onset disease.

Cutaneous involvement is often overlooked in rheumatoid arthritis (RA). We described cutaneous findings in outpatients attending a recent-onset cohort and identified factors associated with skin involvement and reduced (R) dermatological quality of life (DQoL). Skin and rheumatological examinations were performed in 122 patients. DQoL was assessed through the Dermatology Life Quality Index (DLQI). Skin findings were classified as RA-specific and RA-nonspecific. Multiple regression analysis identified factors associated to skin involvement and RDQoL (DLQI score > 1). Patients were middle-aged females (91%), with a 1-year mean disease activity score in 28 joints as 2.0 (interquartile range: 1.5-2.6). There were 94 (77%) patients in whom at least one cutaneous finding was observed: 17 (13.1%) had RA-specific findings (all were rheumatoid nodules) and 91 (96.8%) had at least one RA-nonspecific finding, further classified into skin diseases (35.2%), hair diseases (20.9%), and skin-related signs (76.9%, among whom 94.3% had xerosis). Age (odds ratio [OR]: 1.054, 95% confidence interval [CI]: 1.015-1.094) and skin-health concerns (OR: 5.657, 95% CI: 1.771-18.070) were associated with cutaneous involvement, whereas increased age and DLQI score were associated with a higher number of skin findings/patient. There were 29 patients (24.2%) with RDQoL, which were associated with the Short Form-36 emotional component (OR: 0.955, 95% CI: 0.923-0.988) and the number of skin findings/patient (OR 2.873, 95% CI 1.723-4.791). Pruritus and hair diseases were the individual categories associated with RDQoL. Cutaneous manifestations are frequent in RA patients and have the potential to impact the emotional component of health-related quality of life. Key Points • Up to 77% of the RA patients with substantial follow-up, from a recent-onset disease cohort, had cutaneous manifestations; these were primarily RA-nonspecific findings, whereas 13.1% had RA-specific findings. • Skin-health concerns and age were associated with cutaneous involvement; meanwhile, increased age and Dermatology Life Quality Index (DLQI) score were associated with a higher number of cutaneous findings/patient. • Reduced dermatological quality of life (RDQoL) was documented in one in four patients and was associated with the SF-36 emotional component and the number of cutaneous findings/patient.

What Is in the Neuromuscular Junction Literature?

This update covers recommendations for myasthenia gravis (MG) in patients with coronavirus 2019 disease as well as reports of the clinical features of patients with MG and coronavirus 2019. Updated advisory committee recommendations for the use of thymectomy in generalized MG are also provided. Other MG topics include lipoprotein receptor-4 and agrin antibody associations, factors influencing conversion of ocular to generalized MG, the use of rituximab for more recent onset disease, immunoglobulins for maintenance therapy, and fatigue and depression.

Anxiety, depression and harmful use of alcohol in severe chronic plaque psoriasis: A cross-sectional study

BackgroundPsoriasis is a common, chronic T cell–mediated disease characterised by erythematous, scaly plaques. Psoriasis is associated with depression, anxiety, poor quality of life, harmful use of alcohol and suicidal ideation. We performed this study to find out prevalence of psychological morbidity in our patients with severe psoriasis and to know clinical variables associated with higher risk of psychological morbidity. MethodThis study is a cross-sectional, observational study conducted in a dermatology outpatient department (OPD) of a tertiary care centre. Study population included patients with severe psoriasis area severity index (PASI>10). Clinical and epidemiological data, Patient health questionnaire-9, Generalised anxiety disorder-7, Dermatology life quality index (DLQI) and Alcohol Use Disorders Identification Test questionnaires were recorded. Data were analysed using SPSS, version 24. Chi-square test and Spearman's rank correlation test (ρ) were performed, and p value of <0.05 was considered statistically significant. ResultA total of 140 patients were included in the study and consisted of 67 men and 73 women. The median age was 44 years, median duration of disease was 10 years and median PASI was 13.6. Scoring revealed moderate-to-severe depression in 69 (49.3%) patients, moderate-to-severe anxiety in 40 (28.6%), severe impairment in quality of life in 98 (70%), harmful use of alcohol in 23 (16.4%) and suicidal ideation in 11 (7.8%) patients. Young age, recent onset, higher PASI and facial involvement show significant association with depression, anxiety and poor quality of life. ConclusionScreening for psychological morbidity should be performed in patients with severe psoriasis especially younger patients with recent onset disease. Higher DLQI points to concomitant psychological morbidity and it should be performed in all the patients.

Guillain–Barré syndrome unmasking asymptomatic peripheral spondyloarthritis

Guillain–Barré syndrome (GBS) is an immune-mediated disease characterized by evolving ascending limb weakness, sensory loss, and areflexia. While moderate and severe back or extremity pain is frequent in patients with GBS due to polyradiculopathy, the literature does not reveal any association of acute demyelinating disorders and asymptomatic sacroiliitis, which becomes symptomatic during the episode of the demyelinating illness. We present the case of a young male patient with acute-onset quadriparesis diagnosed as GBS based on clinical evidence and electrophysiological criteria, who developed acute low backache 7 days after the onset of acute demyelinating illness. Subsequently, a diagnosis of peripheral spondyloarthritis (SpA) was confirmed based on clinical outline (past history of bilateral heel pain and acute low backache), along with magnetic resonance imaging (MRI) and computed tomography findings of focal erosions with surrounding sclerosis on iliac para-articular surface bilaterally. The patient responded well to the therapy (intravenous immunoglobulin, hydroxychloroquine, and symptomatic treatment) thereafter. It is crucial to consider the possibility of SpA when patients with GBS complain of low backache. Timely diagnosis will not only aid in the institution of early therapy but also prevent any long-term sequelae. MRI can visualize active inflammation at sacroiliac joints and spine in recent-onset disease.

Pulmonary mycobacterium avium complex disease complicated by cancer: an 11-year survey at a single-center.

Objective: Pulmonary mycobacterium avium complex (MAC) disease is increasing significantly worldwide. Several studies have investigated the clinical features of pulmonary MAC disease in the setting of cancer. Here, we aimed to clarify the clinical characteristics of patients with cancer with recent onset of pulmonary MAC disease and the effect of cancer on the onset of this disease.Patients and Methods: Of the 323 consecutive Japanese patients newly diagnosed with pulmonary MAC disease at Jichi Medical University Hospital between and 2006–2017, we retrospectively reviewed 79 consecutive patients with cancer.Results: Seventeen patients had lung cancer (21.0%), while 62 had non-lung cancer. Of the 17 patients with lung cancer, 16 had adenocarcinoma of which 10 had stage I to III disease; 8 of the 10 patients had not received chemotherapy. Sixteen patients with lung cancer had a MAC infection in the ipsilateral lung. Notably, 9 of the 11 lung cancer patients who did not undergo surgery had a MAC infection in the affected lobe. Of the 39 patients with the most common types of non-lung cancer (14 had gastric cancer, 13 had colorectal cancer, and 12 had breast cancer), 22 had stage I to III disease, and 18 of these 22 had not received chemotherapy.Conclusion: Lung cancer may act as a local factor contributing to the onset of pulmonary MAC disease in the ipsilateral lung. However, the underlying mechanism by which a history of cancer might affect the onset of pulmonary MAC disease remains unclear. Further investigation into this mechanism is needed.