HS Cases Research Articles

Massive enteric necrosis caused by histiocytic sarcoma embolism: a case report

BackgroundHistiocytic sarcoma (HS) is a rare disease characterized by the presence of neoplastic histiocytes. We herein report an unusual case of HS that caused massive tumor embolism-related transmural necrosis of the small intestine.Case presentationA 64-year-old man presented with multiple nodules in the lungs, bone, mediastinum, and subcutaneous tissues that were incidentally detected on preoperative computed tomography for early transverse colon cancer. Approximately two months later, the patient presented with signs of peritoneal irritation suggestive of small intestinal necrosis. Emergency surgery was performed and the necrotic small intestine was resected. Pathological examination revealed small bowel necrosis due to multifocal HS embolism. The postoperative course was uneventful. The patient was unsuccessfully treated with chemotherapy for HS and died 122 days postoperatively.ConclusionsHS can cause massive enteric necrosis due to tumor embolism. Clinicians should be aware of this rare presentation of HS.

VAERS Vasculitis Adverse Events Retrospective Study: Etiology Model of Immune Complexes Activating Fc Receptors in Kawasaki Disease and Multisystem Inflammatory Syndromes.

Vasculitis diseases include Kawasaki disease (KD), Kawasaki disease shock syndrome (KDSS), Multisystem Inflammatory Syndrome (MIS), Henoch-Schönlein purpura (HS), or IgA vasculitis, and additional vasculitis diseases. These diseases are often preceded by infections or immunizations. Disease incidence rates are higher in children than in adults. These diseases have been extensively studied, but understanding of the disease etiology remains to be established. Many studies have failed to demonstrate an association between vasculitis diseases and vaccination; this study examines possible associations. Herein, the Vaccine Adverse Event Reporting System (VAERS) database is retrospectively examined for associations between vasculitis diseases and immunizations. For some vaccines, the number of rare cases of KD, MIS, and HS are higher than the background rates. These rare cases are predicted to occur in individuals with (1) genetic risk factors with (2) antibody titer levels above the primary immune response level. Herein, the model of humoral immune response antibodies bound to antigens (pathogen or vaccine) creating immune complexes is proposed. These immune complexes are proposed to bind Fc receptors on immune cells and platelets, resulting in cell activation and the release of inflammatory molecules including histamine and serotonin. Immune complexes and inflammatory molecules including serotonin and histamine likely trigger vasculitis. Elevated serotonin and possibly histamine drive initial vasoconstrictions, disrupting blood flow. Increased blood flow pressure from cardiac capillary vasoconstrictions is predicted to trigger coronary artery aneurysms (CAA) or lesions (CAL) in some patients. For KDSS and MIS patients, these cardiac capillary vasoconstrictions are predicted to result in ischemia followed by ventricular dysfunction. Ongoing ischemia can result in long-term cardiac damage. Cases associated with pathogens are likely to have persistent infections triggering disease onset. The proposed model of immune complexes driving disease initial disease etiology by Fc receptor activation of immune cells and platelets, resulting in elevated histamine and serotonin levels, is testable and is consistent with disease symptoms and current treatments.

Claude Bernard Horner Syndrome-Case Presentation

Introduction: The syndrome Claude Bernard-Horner (SH) is characterized by eyelid ptosis, pupillary miosis and anhidrosis, it is due to an interruption of the oculosympathetic pathway. The etiologies are multiple, including tumor, traumatic, iatrogenic or vascular. Sometimes it represents a medical emergency. For its diagnosis, eye drop tests are used, such as cocaine, hydroxyamphetamine or apraclonidine, and neuroimaging tests to establish the etiology. We present a case of HS associated with Hodkin Lymphoma (HL). Objective: Describe the clinical characteristics and the imaging study in a case with SH. Presentation of the case. A 24-year-old patient, with a clinical and histopathological diagnosis of HL, the tumor occupies the anterior mediastinum with lymphadenopathy in both supra and infraclavicular side chains of the neck, predominantly right. He presented with ptosis, miosis, and apparent enophthalmos. The diagnosis was based on clinical examination and pupillometry, in addition to images obtained by computed tomography (CT). Conclusions: The usefulness of the neuro-ophthalmological and imaging clinical examination in the identification of HS in this patient was demonstrated.

A Descriptive Study of the Characteristics of Homicide-Suicide in Forensic Autopsy Cases.

Homicide followed by suicide (HS) is a tragic event with varied characteristics across countries and regions. Compared to Western countries, there are limited studies on HS in Asian countries. Therefore, this study aimed to clarify the characteristics of recent HS cases by examining forensic autopsy records from 2008 to 2020 collected from the Department of Legal Medicine, Chiba University, in Japan. A total of 77 HS cases were identified, involving 77 perpetrators (52 completed suicides, 25 attempted suicides), with 28 perpetrator and 89 victim autopsies. Our findings showed that older adults accounted for nearly half of the victims; victims were mostly females, whereas most perpetrators were male. The most common HS relationship was that between a parent and a child. Autopsy findings showed that the most common cause of death was strangulation, and illegal drugs were detected only in a few cases; however, psychotropic drugs were detected in child victims. No obvious evidence of past child physical abuse by caregivers was found. In contrast, intimate partner violence (IPV) was present, with a history of IPV found in half of HS cases involving adult intimate partner relationships. Notably, gender differences in age and relationship to the victim were identified. Likewise, some perpetrators may have expressed their plans and intentions for HS before the event, which may represent an important sign for HS prevention. However, to accurately reveal the course of HS, nationwide integrated statistics, forensic autopsies, including toxicological analyses of the deceased; and forensic psychiatric perspectives, including psychological autopsy, are required.

A Case of Hidradenitis Suppurativa with Plaque Morphea: Association or Chance?

Abstract Hidradenitis suppurativa (HS) is a chronic inflammatory disease of the apocrine glands characterized clinically by recurrent nodules, abscesses, and discharging sinuses which heal with a bridge or rope-like scars in the axilla, groin, and perineum. HS is seen to be associated with several other autoimmune and pilosebaceous structural disorders. We present the case of a 50-year-old obese female, known case of HS for 3 years who developed hyperpigmented indurated plaques over the breasts for the past 1 year. Histopathology from the plaques showed thickened and homogenized collagen bundles. A diagnosis of plaque morphea was made based on the clinical and histopathological findings. There are few case reports of HS associated with connective tissue diseases (CTDs) such as systemic lupus erythematosus, Sjogren’s syndrome, and systemic vasculitis. We discuss the shared pathogenesis of HS and CTDs which may have led to morphea developing in our patient.

Portable Electromagnetic Device for Steatotic Liver Detection Using Blind Source Separation and Shannon Wavelet Entropy

Hepatic steatosis is the most common cause of chronic liver disease worldwide. Symmetric placement of sensors is the main challenge of previous electromagnetic hepatic steatosis techniques as they require signals from the left side of the torso as a healthy reference. To tackle this issue, this study proposes an electromagnetic technique to assist in observation and detection of hepatic steatosis only by measuring electromagnetic signals from the right side of the torso where liver is located. The combination of blind source separation and wavelet transform techniques is used for detection. Firstly, the principal component analysis is applied to the time-domain converted electromagnetic signals to sphere the measured data. Secondly, the sphered signals are modelled as a linear mixture of different components and separated utilizing independent component analysis technique. Thirdly, the liver response signal is isolated based on its lowest cross-correlation with the average of input signals. Finally, Shannon wavelet entropy and wavelet energy of the estimated liver signal is evaluated by considering the excitation electromagnetic Gaussian pulse as the mother wavelet. Healthy livers can be differentiated from the steatotic ones based on their higher level of wavelet entropy. The method is validated by realistic numerical models and human measurements. In both scenarios, the wavelet entropy of estimated liver response is significantly lower and distinguishable in steatotic livers. The proposed method can detect HS cases with more than 16% diffused fat. Compared to previous techniques, it requires significantly less scanning time, is independent of antennas symmetrical placement, and is thus more reliable.

Hollow spheres as inert packed bed from lean to rich combustion in porous media

• Hollow spheres were used in filtration combustion processes. • Lean and rich fuel-air filtration combustion was investigated. • Numerical and experimental comparison of solid and hollow spheres. • Hydrogen and syngas were produced at high temperatures. Hollow spheres as inert packed bed is an innovative technology with high potential in filtration combustion. Their lower specific density, geometry, and the radiation inside the sphere enhance the overall heat transfer of the sphere, and therefore, increase the effective conductivity of the packed bed, while the other thermo-physical properties remain unchanged. The present work investigates numerically and experimentally the effects of the packed bed made of hollow alumina spheres filled with air, from lean to rich premixed methane-air combustion within this porous media, with focus on the production of hydrogen and carbon monoxide species on rich conditions. The experimental part considers the equivalence ratio from 0.8 to 1.3. The numerical approach contemplates a one-dimensional model based on two-temperature approximation (gas and solid) with a four-step chemical reaction mechanism for homogeneous reactions at equivalence ratios between 0.4 and 1.6, for different spheres geometries. The results of experimental and numerical investigations are in good agreement. Both indicate that the use of hollow spheres packed bed (HS), in contrast to the packed bed made of the solid spheres (SS), shows higher temperatures and flame front velocities in all the equivalence ratio ranges. At the stoichiometric equivalence ratio, the numerical investigation in the HS case results in higher temperatures of 168 K and 21 K, in the solid and gas phases, respectively, in comparison with the SS case. The combustion products for different spheres geometries and equivalence ratios present the same trend and values for both HS and SS cases. The yields of carbon monoxide and hydrogen goes up to 37% and 42%, respectively.

Abstract 1344: Immune transcriptional profiling in a large animal model of histiocytic sarcoma reveals putative drivers and tumor suppressors

Abstract Histiocytic sarcoma (HS) is a rare, yet lethal malignancy with a median overall survival of six months and no universally agreed standard of care therapy. Due to the paucity of human cases, there is a drive to develop model systems to improve our understanding of the pathology underlying this disease and screen new treatment strategies. Spontaneous canine HS exhibits increased prevalence in specific breeds, shares key genetic and biologic similarities with the human disease, and occurs in an immunocompetent setting. Our previous studies revealed a spectrum of hot and cold immune tumor microenvironments (TME) based on tumor infiltrating lymphocyte (TIL) quantification in 18 canine and 5 human HS cases. In dogs, increased TIL densities were positively associated with longer survival times. Despite this association, the disease course of HS in our veterinary patient cohort was nearly uniformly fatal. To evaluate for potential inhibitors of T cell immunity in the TME and identify putative drivers and suppressors of HS, we performed immune transcription profiling. Tumors were selected from 3 short-lived cases of splenic HS that were sparsely infiltrated with TIL and 3 long-lived cases of pulmonary HS that were T cell inflamed. Tumors were compared to corresponding grossly healthy splenic and lung tissues collected from 3 dogs without neoplasia undergoing routine post-mortem examination. RNA was extracted from formalin-fixed paraffin embedded tissues and immune transcription profiling was performed using the NanoString nCounter Canine IO Panel. Analyses of all tumors compared to normal tissues, and subset analyses of tissues stratified based on tissue origin site, revealed enrichment of ITGAX (CD11c) expression in the HS tumor samples consistent with histiocytic origin. In each subset analysis, SPP1 (osteopontin) was highly expressed in HS tumors compared with normal tissues. Osteopontin has been shown to be protumorigenic in a variety of cancers, is a potent chemokine for macrophages, and can suppress T cell activation through ligation of CD44, thus acting as a T cell checkpoint. Additionally, we found decreased expression of TXNIP in HS tumors compared to healthy tissues. TXNIP is an established tumor suppressor gene in various tumor types, including acute myeloid leukemia. Future studies will interrogate the functional implications of these transcriptional changes with the aim of developing novel therapeutic strategies for HS in both species. Citation Format: Jennifer A. Lenz, Charles-Antoine Assenmacher, Enrico Radaelli, Matthew J. Atherton. Immune transcriptional profiling in a large animal model of histiocytic sarcoma reveals putative drivers and tumor suppressors [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2022; 2022 Apr 8-13. Philadelphia (PA): AACR; Cancer Res 2022;82(12_Suppl):Abstract nr 1344.

Identification of a novel heterozygous SPTB mutation by whole genome sequencing in a Chinese patient with hereditary spherocytosis and atrial septal defect: a case report

BackgroundHereditary spherocytosis (HS) is a common inherited red blood cell membrane disorder characterized by an abnormal increase of spherocytes in peripheral blood. SPTB gene mutation is one of the most common causes of HS; however, few cases of HS resulting from SPTB mutation in the Chinese population have been reported so far.Case presentationA 3-year-old Chinese girl presented to Qingdao Women and Children’s Hospital, Qingdao University, with atrial septal defect (ASD). Meanwhile, she was clinically diagnosed with HS. Whole genome sequencing (WGS) was performed for the proband and her parents for genetic molecular analysis. A novel SPTB mutation (c.1756delG) was detected by WGS and confirmed by Sanger sequencing in the proband. This mutation results in a frameshift with a premature termination codon in exon 12, leading to a nonsense mutation (p.Ala586Profs*7). Her parents had no similar symptoms, and blood routine and serum biochemical tests showed no significant abnormalities. The patient’s mother did not know of any relatives with HS-like symptoms. Percutaneous transcatheter closure was successfully performed for treating the ASD.ConclusionIn this study, we identified a novel SPTB frameshift mutation in a Chinese girl with HS. This finding would expand the spectrum of SPTB mutations, provide a valuable insight into the genotyping of HS in the Chinese population, and contribute to the clinical management and genetic counseling in HS.

Case report and literature review: Horner syndrome subsequent to endoscopic thyroid surgery

BackgroundHorner syndrome (HS), mainly characterized by symptoms including ptosis, miosis, and anhidrosis on the affected face, is a condition that is well documented but rarely reported as a postoperative complication of thyroidectomy, particularly in endoscopic thyroid surgery (ETS). We hereby report a case of HS due to ETS with a brief literature review on this topic.Case presentationA 31-year-old female was admitted to our hospital with an unexpected physical examination finding of two thyroid nodules that were hypoechoic, had an irregular shape, and exhibited calcification. Subsequently, the results of a fine-needle aspiration (FNA) biopsy from the thyroid nodules and BRAFV600E mutation further confirmed the malignancy of these nodules. Thus, total thyroidectomy combined with central lymph node dissection (CLND) by ETS via the bilateral axillo-breast approach was performed on this patient. Histology confirmed the diagnosis of papillary thyroid microcarcinoma (PTMC) concurrent with Hashimoto’s thyroiditis (HT). However, this patient developed HS with ptosis in her left eye on postoperative day 3. All symptoms gradually resolved before the 3-month follow-up.ConclusionHS subsequent to ETS is a rare complication. Thus, standardized and appropriate operative procedures, as well as subtle manipulation, are essential in preventing and reducing the occurrence of HS. In addition, the early diagnosis and management of this rare complication are also important for a favorable outcome.

Blood pressure levels and risk of haemorrhagic stroke in patients with atrial fibrillation and anticoagulants: results from a primary care cohort with hypertension

Abstract Background Haemorrhagic stroke (HS) is a serious condition that kills and debilitates many of those afflicted by it. Hypertension and oral anticoagulation (OAC) are independent risk factors for HS. Many patients with atrial fibrillation (AF) have hypertension and OAC. The concomitance of hypertension and OAC confers an even higher risk of haemorrhagic stroke, but less is known about the association between specific blood pressure levels and the risk of HS in patients with AF and OAC. Purpose To assess the risk of haemorrhagic stroke at different systolic blood pressure (SBP) levels in a primary care population with hypertension, AF and OAC. Methods We identified 3972 patients with hypertension, AF and OAC in a primary care database in southern Sweden. We followed patients from Jan 1, 2006 until a first event of HS, death, cessation of OAC or Dec 31, 2016. HS was defined as ICD-10 diagnosis codes: I60, I61, and I62. We analysed the association between SBP levels and HS by dividing SBP into five categories: <130, 130–139, 140–159, 160–179 and ≥180 mmHg. We also fitted a spline curve to visualise the relationship between SBP and HS. Hazard ratios (HR) were calculated for the SBP categories with a Cox proportional hazards model. The 130–139 group was used as a reference in the model. We identified age, sex, previous stroke, platelet inhibitor treatment, alcohol abuse and smoking as possible confounders with a directed acyclic graph and included them as co-variates in the model. Results We identified 51 cases of HS during follow-up. In the categorical analysis of SBP, point estimates of HRs for HS increased gradually from the lowest SBP category to the 160–179 category. Only the 160–179 category had a significantly different HR (3.76, CI 1.56–9.04) than the reference 130–139 category, however. See Table 1. No other co-variates were significantly associated with HS. The spline curve, Figure 1, illustrates a significantly increased HR for HS in the 140–175 SBP range. Conclusions In this real-world primary care cohort with hypertension, AF and OAC, we found that SBP in the 160–179 mmHg range was significantly associated with an increased risk of haemorrhagic stroke. Our findings emphasise the importance of blood pressure control in this patient category. Figure 1. Continuous and categorical SBP & HS risk Funding Acknowledgement Type of funding source: Public grant(s) – National budget only. Main funding source(s): The study was financed by grants from the Swedish state under the agreement between the Swedish government and the country councils, the ALF-agreement.

Clinical evaluation of automated quantitative MRI reports for assessment of hippocampal sclerosis

ObjectivesHippocampal sclerosis (HS) is a common cause of temporal lobe epilepsy. Neuroradiological practice relies on visual assessment, but quantification of HS imaging biomarkers—hippocampal volume loss and T2 elevation—could improve detection. We tested whether quantitative measures, contextualised with normative data, improve rater accuracy and confidence.MethodsQuantitative reports (QReports) were generated for 43 individuals with epilepsy (mean age ± SD 40.0 ± 14.8 years, 22 men; 15 histologically unilateral HS; 5 bilateral; 23 MR-negative). Normative data was generated from 111 healthy individuals (age 40.0 ± 12.8 years, 52 men). Nine raters with different experience (neuroradiologists, trainees, and image analysts) assessed subjects’ imaging with and without QReports. Raters assigned imaging normal, right, left, or bilateral HS. Confidence was rated on a 5-point scale.ResultsCorrect designation (normal/abnormal) was high and showed further trend-level improvement with QReports, from 87.5 to 92.5% (p = 0.07, effect size d = 0.69). Largest magnitude improvement (84.5 to 93.8%) was for image analysts (d = 0.87). For bilateral HS, QReports significantly improved overall accuracy, from 74.4 to 91.1% (p = 0.042, d = 0.7). Agreement with the correct diagnosis (kappa) tended to increase from 0.74 (‘fair’) to 0.86 (‘excellent’) with the report (p = 0.06, d = 0.81). Confidence increased when correctly assessing scans with the QReport (p < 0.001, η2p = 0.945).ConclusionsQReports of HS imaging biomarkers can improve rater accuracy and confidence, particularly in challenging bilateral cases. Improvements were seen across all raters, with large effect sizes, greatest for image analysts. These findings may have positive implications for clinical radiology services and justify further validation in larger groups.Key Points• Quantification of imaging biomarkers for hippocampal sclerosis—volume loss and raised T2 signal—could improve clinical radiological detection in challenging cases.• Quantitative reports for individual patients, contextualised with normative reference data, improved diagnostic accuracy and confidence in a group of nine raters, in particular for bilateral HS cases.• We present a pre-use clinical validation of an automated imaging assessment tool to assist clinical radiology reporting of hippocampal sclerosis, which improves detection accuracy.

Risk Factors for Developing Hidradenitis Suppurativa in Patients With Inflammatory Bowel Disease: A Retrospective Case-Control Study.

BackgroundHidradenitis suppurativa (HS) is associated with inflammatory bowel disease (IBD), though risk factors remain to be determined.AimTo characterize HS among a cohort of IBD patients and identify risk factors for its development.MethodsThis was a retrospective case–control study at the ambulatory IBD centre at Mount Sinai Hospital from inception to May 2019. Patients with IBD who developed HS were included. Cases were matched 5:1 by age, gender (male versus female) and IBD type (ulcerative colitis [UC] or Crohn’s disease [CD]) to controls who had IBD without HS. Conditional logistic regression was used to calculate odds ratios (ORs) with 95% confidence intervals (95% CIs).ResultsTwenty-nine cases of HS (19 CD and 10 UC) and 145 controls were included. Of the 29 patients with HS, 11 (37.9%) were male and 18 (62.1%) were female. The severity of HS was mild in 10 (34.5%), moderate in 16 (55.2%) and severe in 3 (10.3%) patients. Patients with HS and IBD were more likely to be active (OR 10.3, 95% CI 2.0 to 54.0, P = 0.006) or past (OR 8.4, 95% CI 2.7 to 25.8, P < 0.005) smokers. Patients with HS and IBD were also more likely to have active endoscopic disease (OR 3.8, 95% CI 1.2 to 12.2, P = 0.022). Furthermore, those with HS and CD were more likely to have active perianal disease (OR 21.1, 95% CI 6.2 to 71.9, P < 0.005).ConclusionsActive IBD, perianal disease and smoking may be associated with HS in IBD. Larger studies are needed to better characterize this morbid condition.

Adenosine kinase and adenosine receptors A1R and A2AR in temporal lobe epilepsy and hippocampal sclerosis and association with risk factors for SUDEP

The "adenosine hypothesis of SUDEP" (sudden unexpected death in epilepsy) predicts that a seizure-induced adenosine surge combined with impaired metabolic clearance can foster lethal apnea or cardiac arrest. Changes in adenosine receptor density and adenosine kinase (ADK) occur in surgical epilepsy patients. Our aim was to correlate the distribution of ADK and adenosine A2A and A1 receptors (A2A R and A1 R) in surgical tissue from patients with temporal lobe epilepsy and hippocampal sclerosis (TLE/HS) with SUDEP risk factors. In 75 cases, patients were stratified into high-risk (n=16), medium-risk (n=11) and low-risk (n=48) categories according to the frequency of generalized seizures before surgery. Using whole-slide scanning Definiens image analysis we quantified the labeling index (LI) for ADK, A2A R, and A1 R in seven regions of interest: temporal cortex, temporal lobe white matter, CA1, CA4, dentate gyrus, subiculum, and amygdala and relative to glial and neuronal densities with glial fibrillary acidic protein (GFAP) and neuronal nuclear antigen (NeuN). A1 R showed predominant neuronal, A2A R astroglial, and ADK nuclear labeling in all regions but with significant variation. Compared with the low-risk group, the high-risk group had significantly lower A2A R LI in the temporal cortex. In HS cases with severe neuronal cell loss and gliosis predominantly in the CA1 and CA4 regions, significantly higher A1 R was present in the amygdala in high-risk than in low-risk cases. There was no significant difference in neuronal loss or gliosis between the risk groups or differences for ADK labeling. Reduced cortical A2A R suggests glial dysfunction and impaired adenosine modulation in response to seizures in patients at higher risk for SUDEP. Increased neuronal A1 R in the high-risk group could contribute to periictal amygdala dysfunction in SUDEP.

P170 Clinical characteristics of inflammatory bowel disease associated to hydradenitis suppurativa

Abstract Background Hydradenitis suppurativa (HS) is a chronic inflammatory skin disorder of the hair follicle characterised by recurrent, painful nodules, abscesses, and sinus tracts. A clinical association between HS and inflammatory bowel disease (IBD), especially Crohn’s disease (CD), has been described in several previous observational studies.The etiology of both diseases is complex and largely unknown, but it appears that the mechanisms behind these diseases are multifactorial, caused by an interaction of genetic and environmental factors, and characterised by a dysregulated local immune response. Methods Aims: We performed a retrospective study to further characterise IBD patients diagnosed with HS in a single center. Methods: A total of 23 patients with well established HS and IBD were identified in our center. Clinical and demographic relevant characteristics were obtained through extensive review of the health records. Each case of HS was confirmed by a dermatologist and was characterised by its location and Hurley’s classification. Results We included 23 patients diagnosed with HS and IBD (56,5% women, mean age 27,09 ± 11,17 years and 69,6% were diagnosed with CD). Montreal classification of CD patients was: L1: 31,3% and L2 -L3 62,6%; B1 87,5%, B2 12,5% and B3 12,5%. A total of 11 patients had been operated related to IBD: 7 (63,6%) for perianal disease and 4(36,6%) underwent bowel resection. The most common localisations affected by HS were axillary 11 (47,8%), inguinal 6 (26%), perianal 1 (4,3%), inguinal plus perianal 1 (4,3%), axillary plus inguinal 1 (4,3%), axillar plus perianal plus submammary 1 (4,3%) and scrotum 1 (4,3%). Patients were divided by Hurley’s classification into three categories: 10 (43,5%) as Hurley I, 11(47,8%) Hurley II and 2(8,7%) Hurley III. A total of 14 patients (60,9%) underwent surgery related to HS. Eleven patients (47,8%) were current smokers, 3(13%) former smokers and 9 (39,1%) non-smokers. Thirty percent of the patients had overweight. Seven patients (30%) were treated with antiTNF and 3(13%) with ustekinumab. Conclusion Overweight and smoking, risks factors shared by patients with HS and IBD, are presented in 30–50% of our series of patients. HS is more frequent in CD patients with colonic and perianal involvement. This association should be taken into account in IBD patients with these clinical characteristics due to its implication in differential diagnosis of perianal CD and in choosing effective therapy for both conditions.

Knowledge about and determinants for diagnosing hidradenitis suppurativa by ministry of health primary healthcare physicians in Jeddah city 2019: An analytical cross-sectional study.

Context:Hidradenitis suppurativa is a noncontagious, inflammatory, chronic and recurrent disease. The prevalence of HS is estimated to be between less than 1 and 4%. It is more common in females than males at a 2:1 ratio. Many cases of HS are either misdiagnosed or remain undiagnosed.Aims:To assess knowledge of diagnosing hidradenitis suppurativa by Ministry of Health primary health care physicians in Jeddah city, 2019 and to identify the determinants and knowledge of diagnosing hidradenitis suppurativa.Settings and Design:An analytical cross-sectional study conducted in Jeddah city, 2019, among primary health care physicians of the MOH.Methods and Material:Estimated sample size was 114. The required primary health care centers were 38 centers. The centers were chosen by a simple random sampling technique. A reliable self-administered questionnaire was used. Ethical approval was obtained.Statistical Analysis Used:Descriptive statistics consisted of means, standard deviations, frequency tables, cross tabulation and charts). Categorical variables were compared using the chi–square test to determine significant relationships between variables.Results:65.4% (68) diagnosed the disease correctly. Most of their knowledge came from clinical practice (39.4%). There was a significant relationship with current job title and medical degree (P-value < 0.0005).Conclusion:The present study showed good knowledge about and ability to diagnose HS. A more advanced medical degree and more years of clinical experience was positively associated with the ability to diagnose HS.

Evaluation of Hellp Syndrome Management

Inroduction: HS (hemolysis, elevated liver enzymes, low platelet count) is an obstetric emergency with significant maternofetal morbidity and mortality. Its diagnosis is difficult, sometimes in a hyperacute manner in the form of a multi-visceral failure syndrome. The prognosis of this pathology depends on the quality of care. Fifty present of HS-related deaths are due to delayed diagnosis and management. According to the formalized recommendations of common experts in 2009 SFAR / ICNGOF / SFMP / SFNN the improvement of HS care mainly concerns the information and training of the nursing staff and the patient and the organization of networked care. For this reason, a research was conducted in the ORAN EHUO gynéco-obstetrics department for patients with HS whose objective is to evaluate the effect of an intervention aimed at improving the human factor. Complications, maternal mortality, time to care, length of stay and patient satisfaction, and describe the factors associated with death in the HS. Material: The study was conducted at the gynecological obstetrics department in two phases. A retrospective study during the period from January 2014 to the end of 2015 was performed on patients hospitalized for HS including clinical, biological, socio-epidemiological characteristics, complications, delays and duration of hospitalization , maternal deaths and perinatal, and patient satisfaction; then an intervention on the human factor was implemented gradually and continuously from January 2016 to the end of 2017. The evaluation of the intervention was done through the before-after study method. Result: The analysis of the data concluded that there were 165 cases of HS, a frequency which increased significantly between the two phases from 0.35% in the first phase to 1.5% in the second phase. Maternal deaths had significantly decreased from 15.7% to 3.14% between the two phases (P = 0.01) and none of the patients had eclampsia postoperatively (2.6% vs. versus). The per and post op blood pressure imbalance increased from 78% to 7.1% with a (P ≤10-3). The laparotomy for hemorrhage increased from 15.7 to 1.6%. After intervention on the human factor, perinatal mortality decreased from 31.5% to 16.5%. The duration of maternal hospitalization between delivery and discharge decreased between the two phases of 18 days and 45 hours in the first phase at 10 days and 7 hours (p <10-3) Regarding the satisfaction went from 34.4% to 74, 3%. All maternal deaths were class I as well as a low socioeconomic status, resulting from a late transfer. Complications associated with death include DIC (80%), eclampsia (70%), PAO (50%), hemorrhagic shock (30%), hepatic hemorrhage, and encephalopathy (10%). Conclusion: The results of the research highlight the positive impact of the human factor namely reduction of maternal mortality, intraoperative complications and duration of hospitalization, satisfaction of the patient. This allows us to conclude that the role of the human factor in improving the care of the HS is unavoidable.

Expanding the clinical and genetic spectrum of Heimler syndrome

BackgroundHeimler syndrome (HS) is a rare hereditary systemic disorder, partial clinically overlapping with Usher syndrome. So far, our knowledge of HS is very limited, many cases are misdiagnosed or may not even be diagnosed at all. This study aimed to analyze the clinical and genetic characteristics of HS, and to evaluate potential phenotype–genotype correlations.ResultsTwo HS cases caused by PEX1 mutations were identified, and a novel likely pathogenic mutation, PEX1 c.895_896insTATA, was found. The main ophthalmic finding of the two patients was consistent with retinitis pigmentosa accompanied by cystoid macular edema, but short axial length and hyperopia were also observed as two previously unreported ocular phenotypes. Analysis of the literature showed that of the 29 HS patients previously reported, 12 had PEX6 mutations, 10 had PEX1 mutations, two had PEX26 mutations, and the remaining patients were not genetically tested. Three novel genotype–phenotype correlations were revealed from analysis of these patients. First, most genotypes of every HS patient include at least one missense variant; second, at least one mutation in PEX1 or PEX6 gene affects the AAA-ATPase region in every HS patient with retinal dystrophy, suggesting AAA-ATPase region is a hypermutable region in patients with a retinal dystrophy; third, there are no significant differences between PEX1-, PEX6-, and PEX26-associated phenotypes.ConclusionNext-generation sequencing is important for the diagnosis of HS. This study expands the clinical and genetic spectrum of HS, and provides additional insights into genotype–phenotype correlations, which is vital for accurate clinical practice, genetic counseling, and pathogenesis studies.

Hidradenitis suppurativa and acne vulgaris and conglobata\u2014systematic review and meta-analysis

BackgroundHidradenitis suppurativa (HS) is a chronic inflammatory skin disorder which involves painful nodules and draining abscesses in flexural areas. Acne vulgaris and its more severe variants including acne conglobata and acne fulminans are also disorders involving the follicular unit. Given that follicular obstruction, dilatation and inflammation feature in both HS and acne vulgaris/conglobata, it has been suggested that HS is associated with acne vulgaris/conglobata.MethodsThe present systematic review and meta-analysis was performed according to recommended PRISMA guidelines. All eligible case-control studies comparing patients with HS vs non-HS were included in the present review. All studies must have included either the proportion of patients with acne vulgaris/conglobata in each group, or the summary effect size for association between HS and acne vulgaris/conglobata. The odds ratio (OR) was used as a summary statistic.ResultsFrom pooled unadjusted meta-analysis, we found a significantly higher proportion of patients with acne vulgaris/conglobata in HS cases compared to controls (OR 3.44, 95% CI 1.95–6.07, P < 0.0001, I2 = 100%). Pooled meta-analysis was also performed with adjusted effect sizes. This demonstrated that HS was significantly associated with acne vulgaris/conglobata after adjustment for potential confounders (OR 3.44, 95% CI 2.43–4.87, P < 0.00001, I2 = 99%).ConclusionsIn summary, a significant association was found between HS and acne vulgaris/conglobata. This has implications in terms of understanding the burden of disease on patient quality of life as well as consideration of optimal management strategies to target both disorders. Physicians taking care of patients with HS should be aware of this association.

2337 Secondary Sclerosing Cholangitis and Nodular Regenerative Hyperplasia Caused by Hereditary Spherocytosis

INTRODUCTION: Hereditary spherocytosis is a hemolytic anemia that leads to premature cell destruction due to red cell membrane defect. It causes release of unconjugated bilirubin, and subsequent bilirubin gallstone formation occurs. Chronic recurrent choledocholithiasis can cause secondary sclerosing cholangitis (SSC). Hemolysis can lead to chronic vascular injury and portal vein thrombosis, resulting in Nodular Regenerative Hyperplasia (NRH). Here, we report a case of HS causing SSC with concurrent NRH. CASE DESCRIPTION/METHODS: A 37-year-old female with a history of hereditary spherocytosis with thrombocytosis presented to the office for abnormal liver function tests (LFTs). History of splenectomy and cholecystectomy in 2002. Patient was noted to have abnormal LFTs in 2009 (Figure 1). Her LFTs were routinely monitored until 2016 when she presented with epigastric pain, jaundice, and abnormal LFTs. Viral and autoimmune hepatitis serologies were negative. Iron studies were normal. Right upper quadrant (RUQ) ultrasound (US) showed mildly dilated intrahepatic ducts. Magnetic resonance cholangiopancreatography(MRCP) was performed which showed a questionable stricture in the proximal CBD and mild dilatation of the central intrahepatic duct. ERCP showed normal caliber CBD with multiple filling defects. A biliary sphincterotomy was performed and the stone was removed. ERCP performed in 2016 and 2018 revealed multiple stones in the biliary ductal system, which were removed and the CBD was dilated. Liver biopsy showed mild portal and lobular inflammation with mild portal fibrosis and changes suggestive of NRH. DISCUSSION: HS caused the patient's recurrent choledocholithiasis and contributed to SSC. Pathologically, SSC causes inflammation, obliterative fibrosis, stricture formation, and destruction of the biliary tree, which leads to biliary cirrhosis. Although often reversible, outcomes may not be as favorable if it is not recognized quickly, particularly in critical illness induced SSC. NRH is a liver disease characterized by many hyperplastic nodules without separation by fibrotic tissue. It is associated with any systemic disease that causes vascular injury, in this case our patient’s HS. Pathology in our case revealed only “mild” changes suggestive of NRH, so the patient hasn’t yet developed portal hypertension. There are no cases in literature that document HS as a factor contributing to either of these disease states. Early suspicion and liver biopsy are necessary for prompt diagnosis and improved outcomes.