Hidradenitis Suppurativa: Proposal of Classification in Two Endotypes with Two-Step Cluster Analysis

Dermatology ◽  
2020 ◽  
pp. 1-7
Author(s):  
Anxo González-Manso ◽  
Eugènia Agut-Busquet ◽  
Jorge Romaní ◽  
Eva Vilarrasa ◽  
Flavia Bittencourt ◽  
...  
Keyword(s):  
Cluster Analysis ◽  
Tobacco Use ◽  
Pilonidal Sinus ◽  
Early Onset ◽  
Hidradenitis Suppurativa ◽  
Clinical Manifestations ◽  
Clinical Impression ◽  
Gamma Secretase ◽  
Serum Concentrations ◽  
History Of

<b><i>Introduction:</i></b> Hidradenitis suppurativa (HS) is a chronic, inflammatory, recurrent disorder of the pilosebaceous unit. Currently, several attempts have been made to classify this disease according to its pathogenesis and clinical manifestations. We attempted at classifying 103 patients using two-step cluster analysis. <b><i>Methods:</i></b> The final model included body mass index, C-reactive protein (CRP), and serum concentrations of IL-1, IL-6, IL-17, and IL-10 as continuous variables, and sex, later/early onset, anterior/posterior lesion sites, presence/absence of sinus tracts, nodules and abscesses, positive/negative history of pilonidal sinus, and presence/absence of mutations in gamma-secretase subunits (APH1A, APH1B, MEFV, NCSTN, PSEN1, PSEN2, PSENEN, PSTPIP1) as qualitative variables. <b><i>Results:</i></b> The resultant model defined two groupings or clusters: cluster 1 (64.9% of patients) characterized by nonobese males, with nodular lesions in posterior sites, early-onset HS, higher IL-10, presence of gamma-secretase mutations, and history of pilonidal sinus; and cluster 2 (35.1% of patients) characterized by obese females or males, with lesions in anterior sites, more presence of sinus tracts and abscesses and less nodules, later-onset HS, and higher concentrations of IL-1, CRP, IL-17, and IL-6. Severity measures (Hurley, HS-PGA, and IHS4) and tobacco use were discarded because the analysis found them to be less relevant for clustering. <b><i>Conclusion:</i></b> Our resultant model confirms the clinical impression that HS is a disease spectrum with two pathogenic poles defining two clusters or endotypes. The probability of having severe disease was equally distributed in the two clusters. The variable with the highest predictive value for clustering was involvement of typical anterior sites (axillae, submammary) or atypical posterior sites (back, gluteal). Serum concentrations of interleukins, tobacco use, and sex had a lower predictive power for clustering.

Early Onset Obsessive-Compulsive Disorder With and Without Tics

CNS Spectrums ◽  
2009 ◽  
Vol 14 (7) ◽  
pp. 362-370 ◽  
Author(s):  
Maria Alice de Mathis ◽  
Juliana B. Diniz ◽  
Roseli G. Shavitt ◽  
Albina R. Torres ◽  
Ygor A. Ferrão ◽  
...  
Keyword(s):  
Obsessive Compulsive Disorder ◽  
Early Onset ◽  
Age Of Onset ◽  
Age At Onset ◽  
Clinical Manifestations ◽  
Tic Disorders ◽  
Obsessive Compulsive ◽  
Compulsive Disorder ◽  
Diagnostic And Statistical Manual ◽  
History Of

ABSTRACTIntroduction: Research suggests that obsessive-compulsive disorder (OCD) is not a unitary entity, but rather a highly heterogeneous condition, with complex and variable clinical manifestations.Objective: The aims of this study were to compare clinical and demographic characteristics of OCD patients with early and late age of onset of obsessive-compulsive symptoms (OCS); and to compare the same features in early onset OCD with and without tics. The independent impact of age at onset and presence of tics on comorbidity patterns was investigated.Methods: Three hundred and thirty consecutive outpatients meeting Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition criteria for OCD were evaluated: 160 patients belonged to the “early onset” group (EOG): before 11 years of age, 75 patients hadResults: The EOG had a predominance of males, higher frequency of family history of OCS, higher mean scores on the “aggression/violence” and “miscellaneous” dimensions, and higher mean global DY-BOCS scores. Patients with EOG without tic disorders presented higher mean global DY-BOCS scores and higher mean scores in the “contamination/cleaning” dimension.Conclusion: The current results disentangle some of the clinical overlap between early onset OCD with and without tics.

Etiology and clinical features of epididymo-orchitis: A single-center study in Tehran, Iran

2020 ◽  
Vol 20 ◽  
Author(s):  
Sara Abolghasemi ◽  
Mohammad Alizadeh ◽  
Ali Hashemi ◽  
Shabnam Tehrani
Keyword(s):  
Chlamydia Trachomatis ◽  
Clinical Symptoms ◽  
Urine Culture ◽  
Clinical Manifestations ◽  
Urinary Frequency ◽  
Serological Tests ◽  
Duration Of Symptoms ◽  
Two Samples ◽  
History Of ◽  
Tract Infections

Introduction: Epididymo-orchitis is a common urological disease among men. Little is known about the clinical and epidemiological aspects of the disease in Iran. Thus, the present study was aimed to investigate the etiology, clinical sequelae and risk factors of patients with epididymo-orchitis in Tehran, Iran. Materials and Methods: Patients presenting with epididymo-orchitis were prospectively analyzed in order to study the etiology and pattern of the disease. Bacteriological, molecular and serological tests were undertaken to look for Chlamydia trachomatis, Neisseria gonorrhoeae, Brucella spp., Mycoplasma spp, and other bacteria. Results: Fifty patients with epididymo-orchitis were evaluated according to their clinical symptoms, duration of symptoms, physical examination, and laboratory studies. The mean age of the patients was 53 years. Fever, dysuria, pain in the flanks, urinary frequency and discharges occurred in 58.0%, 50.0%, 50.0%, 28.0% and 6.0%, respectively. Bacterial pathogen was identified in 26% (13/50) of patients by urine culture. Escherichia coli was the etiological agent in 11/13 patients (84.6%). Two out of 50 patients (4.0%) were also positive for Chlamydia trachomatis. Two samples were serologically positive for Brucella spp. High Mean age, fever, urinary frequency, history of the underlying disease and history of urinary tract infections were found to have a significant association with the positive bacteriologic urine culture (P<0.05). Conclusions: The most common clinical manifestations were fever, dysuria, and abdominal pain. E. coli and C. trachomatis were the major causative agents. Use of a set of diagnostic approaches including clinical symptoms, urine culture and more precise techniques such as PCR should be taken into consideration for the definitive diagnosis.

scholarly journals Pediatric leukemia susceptibility disorders: manifestations and management

Hematology ◽  
2017 ◽  
Vol 2017 (1) ◽  
pp. 242-250 ◽  
Author(s):  
Lisa J. McReynolds ◽  
Sharon A. Savage
Keyword(s):  
Early Onset ◽  
Ribosome Biogenesis ◽  
De Novo ◽  
Disease Risk ◽  
Bone Marrow Failure ◽  
Clinical Manifestations ◽  
Cancer Surveillance ◽  
Therapeutic Interventions ◽  
Pediatric Leukemia ◽  
Inherited Susceptibility

Abstract The clinical manifestations of inherited susceptibility to leukemia encompass a wide phenotypic range, including patients with certain congenital anomalies or early-onset myelodysplastic syndrome (MDS) and some with no obvious medical problems until they develop leukemia. Leukemia susceptibility syndromes occur as a result of autosomal dominant, autosomal recessive, or X-linked recessive inheritance, or de novo occurrence, of germline pathogenic variants in DNA repair, ribosome biogenesis, telomere biology, hematopoietic transcription factors, tumor suppressors, and other critical cellular processes. Children and adults with cytopenias, MDS, dysmorphic features, notable infectious histories, immunodeficiency, certain dermatologic findings, lymphedema, unusual sensitivity to radiation or chemotherapy, or acute leukemia with a family history of early-onset cancer, pulmonary fibrosis, or alveolar proteinosis should be thoroughly evaluated for a leukemia susceptibility syndrome. Genetic testing and other diagnostic modalities have improved our ability to identify these patients and to counsel them and their family members for subsequent disease risk, cancer surveillance, and therapeutic interventions. Herein, the leukemia susceptibility syndromes are divided into 3 groups: (1) those associated with an underlying inherited bone marrow failure syndrome, (2) disorders in which MDS precedes leukemia development, and (3) those with a risk primarily of leukemia. Although children are the focus of this review, it is important for clinicians to recognize that inherited susceptibility to cancer can present at any age, even in older adults; genetic counseling is essential and prompt referral to experts in each syndrome is strongly recommended.

Intermammary Hidradenitis Suppurativa: Considerations on a Unique Presentation

2021 ◽  
pp. 1-4
Author(s):  
Ana Luísa João ◽  
Nélia Cunha ◽  
Joana Cabete
Keyword(s):  
Surgical Approach ◽  
Inflammatory Disease ◽  
Pilonidal Sinus ◽  
Hidradenitis Suppurativa ◽  
Chronic Inflammatory Disease ◽  
Pilonidal Sinus Disease ◽  
Sinus Disease ◽  
Case Presentation ◽  
Overweight Women

Introduction: Hidradenitis suppurativa (HS) is a potentially disabling chronic inflammatory disease. The intermammary location, not clearly specified in the usual phenotypic classifications, entails significant functional and cosmetic compromise. Case Presentation: Eleven cases of predominantly intermammary disease with multiple fistulization and disfiguring scarring were observed at our Department between January 2016 and March 2020. They were young (mean age = 22 years) obese or overweight women, in which the medical-surgical approach has led to variable results. Discussion/Conclusion: Intermammary HS possibly represents a unique phenotypic presentation, likely to be fistulizing and severe. We believe that anatomo-functional considerations, which can be paralleled to pilonidal sinus disease, contribute to its pathophysiology and striking appearance, and further emphasize the importance of multidisciplinary endeavor to reduce the morbidity associated with this seemingly overlooked location.

Serum Concentration and Skin Expression of S100A7 (Psoriasin) in Patients Suffering from Hidradenitis Suppurativa

Dermatology ◽  
2020 ◽  
pp. 1-7
Author(s):  
Aleksandra Batycka-Baran ◽  
Wojciech Baran ◽  
Danuta Nowicka-Suszko ◽  
Maria Koziol-Gałczyńska ◽  
Andrzej Bieniek ◽  
...  
Keyword(s):  
Serum Concentration ◽  
Hidradenitis Suppurativa ◽  
Protein Concentration ◽  
Normal Skin ◽  
Innate Immune ◽  
Antimicrobial Protein ◽  
Healthy Controls ◽  
Serum Concentrations ◽  
Reactive Protein

<b><i>Background:</i></b> Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease. An important role of innate immune dysregulation in the pathogenesis of HS has been highlighted. S100A7 (psoriasin) is an innate, antimicrobial protein that exerts proinflammatory and chemotactic action. <b><i>Objectives:</i></b> The objective of the study was to investigate serum concentrations of S100A7 in individuals with HS as compared to healthy controls. Further, we evaluated the expression of S100A7 in lesional HS skin as compared to perilesional (clinically uninvolved) HS skin and normal skin. <b><i>Methods:</i></b> Serum concentrations of S100A7 were evaluated with a commercially available ELISA kit. The expression of S100A7 in the skin was assessed using qRT-PCR and immunofluorescence staining. <b><i>Results:</i></b> We found increased expression of S100A7 in lesional HS skin as compared to perilesional HS skin (<i>p</i> = 0.0017). The expression of S100A7 in lesional HS skin was positively associated with serum C-reactive protein concentration and the severity of disease according to Hurley staging. The serum concentration of S100A7 in individuals with HS was decreased as compared to healthy controls and patients with psoriasis. <b><i>Conclusions:</i></b> Upregulated in lesional HS skin, S100A7 may enhance the inflammatory process and contribute to the HS pathogenesis.

The physiopathology of spontaneous hemorrhagic stroke: a systematic review

2021 ◽  
Vol 0 (0) ◽  
Author(s):  
Alcivan Batista de Morais Filho ◽  
Thiago Luis de Holanda Rego ◽  
Letícia de Lima Mendonça ◽  
Sulyanne Saraiva de Almeida ◽  
Mariana Lima da Nóbrega ◽  
...  
Keyword(s):  
Risk Factors ◽  
Systematic Review ◽  
Ischemic Stroke ◽  
Subarachnoid Hemorrhage ◽  
Natural History ◽  
Hemorrhagic Stroke ◽  
Recent Literature ◽  
Clinical Manifestations ◽  
The Road ◽  
History Of

Abstract Hemorrhagic stroke (HS) is a major cause of death and disability worldwide, despite being less common, it presents more aggressively and leads to more severe sequelae than ischemic stroke. There are two types of HS: Intracerebral Hemorrhage (ICH) and Subarachnoid Hemorrhage (SAH), differing not only in the site of bleeding, but also in the mechanisms responsible for acute and subacute symptoms. This is a systematic review of databases in search of works of the last five years relating to the comprehension of both kinds of HS. Sixty two articles composed the direct findings of the recent literature and were further characterized to construct the pathophysiology in the order of events. The road to the understanding of the spontaneous HS pathophysiology is far from complete. Our findings show specific and individual results relating to the natural history of the disease of ICH and SAH, presenting common and different risk factors, distinct and similar clinical manifestations at onset or later days to weeks, and possible complications for both.

Acute exudative paraneoplastic polymorphous vitelliform maculopathy in a patient with thymoma, myasthenia gravis, and polymyositis

2021 ◽  
pp. 112067212199404
Author(s):  
He Yu ◽  
Xinyu Ma ◽  
Nianting Tong ◽  
Zhanyu Zhou ◽  
Yu Zhang
Keyword(s):  
Myasthenia Gravis ◽  
Medical Center ◽  
Postoperative Radiotherapy ◽  
Clinical Manifestations ◽  
Subretinal Fluid ◽  
Metastatic Tumor ◽  
The Body ◽  
Pleural Thickening ◽  
History Of ◽  
Clinically Significant

Importance: This is the first reported case of acute exudative paraneoplastic polymorphous vitelliform maculopathy (AEPPVM) in a patient with thymoma, accompanied by myasthenia gravis (MG) and polymyositis. Objective: To examine the pathogenesis of ocular disease in a patient with yolk-like fundus lesions and thymoma, MG, and polymyositis throughout the body based on clinical manifestations, diagnosis, differential diagnosis, and genetic testing to determine the appropriate treatment course. Design, setting, and participants: We describe a 63-year-old woman who presented to our tertiary medical center with a 3-month history of reduced visual acuity in both eyes. Concurrent fundoscopy revealed a 2.0 × 1.7-mm, unifocal, yellow, round vitelliform lesion in the macular region, surrounded by multifocal, shallow, yellow-white pockets of subretinal fluid. The patient’s medical history included thymoma with thymectomy treatment, combined with pericardiectomy and postoperative radiotherapy (20 years prior), followed by a diagnosis of MG with suspect thymic association (15 years prior). Three years prior, the patient had been diagnosed with polymyositis related to paraneoplastic syndrome; 1 year prior, she had been examined for pleural thickening due to suspected metastatic tumor. Results: On her most recent follow-up visit at 3 months after initial diagnosis, the patient was stable with no clinically significant progression in ocular or systemic conditions.

Familial thrombophilia associated with fibrinogen Paris V: Dusart syndrome

Blood ◽  
2000 ◽  
Vol 96 (3) ◽  
pp. 1191-1193 ◽  
Author(s):  
Takashi Tarumi ◽  
Danko Martincic ◽  
Anne Thomas ◽  
Robert Janco ◽  
Mary Hudson ◽  
...  
Keyword(s):  
Pulmonary Embolism ◽  
Venous Thromboembolism ◽  
Early Onset ◽  
Family Members ◽  
Initial Presentation ◽  
Pulmonary Emboli ◽  
Common Cause ◽  
History Of ◽  
Prophylactic Anticoagulation ◽  
Fibrin Clots

Abstract We report on a family with a history of venous thromboembolism associated with fibrinogen Paris V (fibrinogen A-Arg554→Cys). Ten members experienced thrombotic events, including 4 with fatal pulmonary emboli. Pulmonary embolism was the presenting feature in 4. Those with the mutation and a history of thrombosis had somewhat higher fibrinogen concentrations than those with the mutation and no thrombosis (294 ± 70 mg/dL vs 217 ± 37 mg/dL, respectively). The Paris V mutation consistently caused a prolongation of the reptilase time, and fibrin clots containing the abnormal fibrinogen were more translucent than normal clots. Given the early onset of symptoms and the initial presentation with pulmonary embolism in some family members, it was justifiable to offer prophylactic anticoagulation with warfarin to carriers of the mutation. Fibrinogen Paris V has now been reported in 4 apparently unrelated families, indicating that it is a relatively common cause of dysfibrinogenemia-associated thrombosis.

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