scholarly journals P24 Can high ANA titre combined with clinical features predict developing autoimmune conditions in children?

Rheumatology ◽  
2019 ◽  
Vol 58 (Supplement_4) ◽  
Author(s):  
Ovgu Kul Cinar ◽  
Charlene Foley ◽  
Ali Al-Hussaini ◽  
Kimberly Gilmour ◽  
Matthew Buckland ◽  
...  
Keyword(s):  
Clinical Features ◽  
Chart Review ◽  
Conflicts Of Interest ◽  
Connective Tissue Diseases ◽  
Retrospective Chart Review ◽  
Final Diagnosis ◽  
Healthy Children ◽  
Street Hospital ◽  
Increased Risk ◽  
Autoimmune Conditions

Poster presentation Tuesday 8 October Background Antinuclear antibodies (ANA) are autoantibodies that recognise cellular antigens found predominantly in the cell nucleus. They are associated with numerous autoimmune diseases such as systemic lupus erythematosus, but may also be found in infectious diseases, malignancies and healthy individuals. ANA is requested as part of an initial work-up for autoimmune conditions. In healthy children (5-18%), positive ANA titres of 1/80 to 1/320 have been reported. A prospective study of healthy children with positive ANA found that children who developed autoimmune disease had clinical features at presentation that were suspicious for such an outcome. Therefore, the usefulness of a positive ANA result for diagnosing autoimmune conditions is limited without clinical correlation. The aim of our study was to assess whether high ANA titre and clinical features at presentation could predict final diagnosis. Methods Single centre retrospective study at Great Ormond Street Hospital for Children (GOSH). The immunology laboratory provided a list of positive ANA results (using indirect immunofluorescence technique) from January 2013 to July 2018. A retrospective chart review was performed to ascertain presence of clinical features at presentation under the five following titles: arthritis, skin involvement, eyes, CNS involvement and Raynaud’s phenomenon. We then reviewed the last clinical contact to document confirmed diagnosis. Results We performed a retrospective chart review on 1,354 children (67% female; median age 7.5 years (0.1-17.5); median follow-up 4.8 years (0-18)) with positive ANA results (titres 1/160, 1/320, 1/640, 1/1280, 1/2560 and >1/2560). Table 1 reports ANA titres at first presentation in relation to final diagnosis. A titre of 1/640 or above was most commonly seen (>50%) in children with an autoimmune rheumatology condition. In fact, children with the highest titre (>1:2560) were significantly more likely to be diagnosed with one of these conditions. Finally, we looked at the number of presenting features and correlated with final diagnosis. Those diagnosed with a CTD were most likely to present with 2-5 clinical features (p < 0.0001). P24 Table 1: Percentage of patients grouped according to their diagnosis and ANA titres Final Diagnoses ANA Titres >1: 2560 1: 2560 1: 1280 1: 640 1: 320 1: 160 Connective Tissue Diseases 24% 9% 13% 16% 16% 22% JIA and Uveitis 8% 11% 15% 22% 22% 22% JIA 6% 8% 13% 24% 24% 25% Autoimmune (other) 4% 5% 11% 19% 32% 29% Unidentified autoimmune/ autoinflammatory 8% 12% - 24% 12% 44% Vasculitis - - 5% 26% 16% 53% Sarcoidosis - 20% - 20% - 60% Autoinflammatory 7% - - 43% - 50% Malignancy - - - 25% - 75% Other 3% 2% 3% 17% 28% 47% Non-inflammatory MSK 3% - 9% 18% 27% 43% Conclusion This study suggests that, patients presenting with higher ANA titres and a combination of clinical features should be assessed systemically and followed-up as they may have increased risk of developing an autoimmune rheumatological conditions. Conflicts of Interest The authors declare no conflicts of interest.

Abstract P305: Post-Stroke Aphasia as a Predictor of 30-Day Readmission Associated With Infection: A Retrospective Chart Review

Stroke ◽  
2021 ◽  
Vol 52 (Suppl_1) ◽  
Author(s):  
Emma M Loebel ◽  
Mary Rojas ◽  
Connor Mensching ◽  
Danielle Wheelwright ◽  
Laura K Stein
Keyword(s):  
Chart Review ◽  
Retrospective Chart Review ◽  
Mount Sinai Hospital ◽  
Index Admission ◽  
Negative Consequences ◽  
Medical Comorbidities ◽  
Post Stroke ◽  
Increased Risk ◽  
Adjusted Model ◽  
The Impact

Introduction: Studies have demonstrated that aphasia may negatively impact morbidity and mortality among ischemic stroke (IS) patients. However, the association between post-stroke aphasia and readmission with infection (RI) is poorly understood. We sought to assess the impact of aphasia on post-stroke RI. We hypothesized that aphasic patients are at increased risk of infection in the 30-day post-stroke period. Methods: We performed retrospective chart review of the Mount Sinai Hospital IS patients with 30-day all cause readmission from January 2016 - December 2019. All variables were abstracted from the index admission (IA) electronic medical records except for aspects related to the readmission (RA). Aphasia was present if a neurologist diagnosed the patient with acquired language dysfunction during IA. We performed chi square and logistic regression analyses to compare readmitted patients with and without aphasia at IA. Our fully adjusted model controlled for age, sex, medical comorbidities, NIHSS ≥ 8, IA LOS > 7, IA infection, discharge to facility. We completed all analyses with SPSS. Results: During IA, 36% (n=42) were diagnosed with aphasia. At IA, there were no significant differences in age (dichotomized at 65), sex, or medical comorbidities between aphasic and non-aphasic cohorts. However, more aphasic patients had admission NIHSS ≥ 8 (89% vs 35%, p<0.0001), LOS > 7 (76% vs 42%, p=0.0004), discharge to facility (79% vs 49%, p=0.0016), and RI (52% vs 19%, p=0.002). The presence of aphasia predicted RI in both unadjusted (OR=4.6, p<0.001) and adjusted (OR= 3.3, p=0.014) multivariate analyses. The Kappa inter-reliability ranged from 0.7-1.0 for the key variables included in our adjusted model. Conclusions: The adjusted odds of 30-day readmission with infection were significantly greater in those with diagnosis of aphasia at the time of index admission compared to those without. Our study provides preliminary evidence that the presence of aphasia may have negative consequences on a patient’s health beyond the language disturbance. Further study is needed to better understand the reasons and risk reduction strategies in this vulnerable population.

Clinical features and sex differences in pediatric post-traumatic headache: A retrospective chart review at a Boston area concussion clinic

Cephalalgia ◽  
2019 ◽  
Vol 40 (7) ◽  
pp. 701-711 ◽  
Author(s):  
Haley McEvoy ◽  
David Borsook ◽  
Scott A Holmes
Keyword(s):  
Clinical Features ◽  
Chart Review ◽  
Pediatric Patients ◽  
Clinical Presentation ◽  
Retrospective Chart Review ◽  
Post Injury ◽  
Equivalent Representation ◽  
Childhood Education ◽  
History Of ◽  
Post Traumatic

Background Often concussion/mTBI triggers a chronic headache syndrome called persistent post-traumatic headache (P-PTH) that can last from months to years post-injury, and produce significant disruption of childhood education, social interaction and development. Although prevalent and highly disabling, P-PTH is underrepresented in headache and pain research and lacks clear definition and pathophysiology. Clinical presentation of P-PTH frequently resembles that of other headache disorders, like migraine, yet the pathophysiological mechanisms are distinct and not fully understood, making the disorder difficult to treat in the clinical setting. Methods In a retrospective analysis of 1506 pediatric patients attending Boston Children’s Hospital clinics, demographic trends, symptom features, and the influence of sex on clinical presentation of PTH are presented. We compare clinical characteristics of P-PTH with a published cohort of migraine patients to evaluate the clinical features that are unique to P-PTH. Results Findings show that despite equivalent representation of sex in the clinic, P-PTH is expressed more in females than males and is weighted towards somatic symptoms. Relative to migraine, PTH is less associated with a family history of headache. Conclusions The ability to identify persons with PTH can help manage risk factors and identify persons likely to develop persistent post-concussion symptoms.

The risk of thrombotic events in patients with primary versus secondary hepatic malignancies who are undergoing surgical resection

2007 ◽  
Vol 25 (18_suppl) ◽  
pp. 15178-15178
Author(s):  
T. J. Yates ◽  
M. Abouljoud ◽  
A. Lambing ◽  
P. Kuriakose
Keyword(s):  
Surgical Resection ◽  
Metastatic Disease ◽  
Chart Review ◽  
Malignant Disease ◽  
Retrospective Chart Review ◽  
Secondary Malignancies ◽  
The Past ◽  
Increased Risk ◽  
Thrombotic Complications ◽  
Hepatic Malignancies

15178 Background: The increased risk of thromboses is well documented in patients with malignancies, and those undergoing abdominal surgery. Furthermore, patients requiring hepatic resection for underlying malignant disease have been reported to be at increased risk for thrombotic complications. However, guidelines for thromboprophylaxis in this patient population are still under investigation. A cursory review performed at our institution determined the incidence of thrombotic events to be comparable to that reported in the literature. We, therefore, went further to study if there was a difference in the risk of thromboses between those undergoing resection for primary hepatic cancer, versus metastatic disease. Methods: We performed a retrospective chart review of patients undergoing surgical resection for hepatic malignancies. The primary end point was to determine whether there was a difference in the incidence of thrombotic events between primary and secondary malignancies. Results: A total of 99 patients at our institution underwent surgical resection for either primary or secondary hepatic malignancies in the past 5 years. There were 7 patients who developed thrombotic events within three months of their resection. Of these patients, all 7 underwent resection for secondary hepatic malignancies. Based on the nature of this study, and its lack of standardized thromboprophylaxis, statistical analysis was not performed. Conclusions: Patients undergoing surgical resection of hepatic malignancies appear to be at increased risk of thrombotic events, and may require more specific standardization of their thromboprophylaxis. Furthermore, based on our observation it appears those associated with metastatic disease may derive an even greater benefit from this. Future prospective studies will be required to evaluate this difference in thromboses, and to better define the guidelines for thromboprophylaxis. No significant financial relationships to disclose.

scholarly journals Time in Therapeutic Range Using a Nomogram for Dose Adjustment of Warfarin in Patients on Hemodialysis With Atrial Fibrillation

2021 ◽  
Vol 8 ◽  
pp. 205435812110460
Author(s):  
Kimberly Defoe ◽  
Jenny Wichart ◽  
Kelvin Leung
Keyword(s):  
Atrial Fibrillation ◽  
Therapeutic Range ◽  
Chart Review ◽  
Warfarin Therapy ◽  
Small Sample Size ◽  
Retrospective Chart Review ◽  
Small Sample ◽  
Time In Therapeutic Range ◽  
Increased Risk ◽  
Chi Square Analysis

Background: Patients treated with hemodialysis and prescribed warfarin typically have lower time in therapeutic range (TTR) compared to the general population. This may result in less benefit or increased risk of over anticoagulation in these patients. Objective: To assess effectiveness of use of an electronic nomogram for the management of warfarin therapy in patients treated with hemodialysis. Design: Retrospective chart review. Setting: Adult patients treated with hemodialysis. Patients: Patients on hemodialysis receiving warfarin for the management of atrial fibrillation (AF) with therapy managed by nursing led electronic nomogram. Measurements: Time in therapeutic range (as fraction and Rosendaal). Methods: Retrospective chart review over 1 year of international normalized ratio (INR) results was completed, and TTR was calculated. Comparison of patients with TTR greater than 60% to those less than 60% was completed using chi-square analysis. Results: Of 43 patients with warfarin therapy managed by the nomogram, the mean TTR was 55.2% (calculated by fraction method) or 61.2% (calculated by Rosendaal method). More than half of the patients (63.5%) had moderate to good control, defined as TTR greater than 60%. Female sex, liver disease, or history of substance use and more medication holds were associated with lower TTR. Limitations: Small sample size and retrospective nature of review. Conclusions: The results of this review supports the use of an electronic, nursing-led nomogram for the maintenance management of warfarin therapy in stable patients treated with hemodialysis, as use results in TTR greater than 60% for more than half of patients.

scholarly journals Haemorrhagic complications of peripartum anticoagulation: A retrospective chart review

2014 ◽  
Vol 7 (2) ◽  
pp. 77-83 ◽  
Author(s):  
Erica HZ Wang ◽  
Catherine A Marnoch ◽  
Rshmi Khurana ◽  
Winnie Sia ◽  
Nesé Yuksel
Keyword(s):  
Heart Valves ◽  
Chart Review ◽  
Retrospective Chart Review ◽  
Low Molecular Weight ◽  
Index Pregnancy ◽  
Increased Risk ◽  
Pregnancy And Postpartum ◽  
History Of ◽  
Academic Teaching Hospital ◽  
Therapeutic Doses

Background Women with venous thromboembolism (VTE), thrombophilias or mechanical heart valves may require anticoagulation during pregnancy and postpartum. The incidence of postpartum hemorrhage (PPH) in the literature is 2.9–6%, but the rate while on anticoagulation is not well documented. Aims To determine the incidence of haemorrhagic complications associated with the use of peripartum anticoagulation, and the types and risk factors for haemorrhagic complications. Methods A retrospective chart review was conducted on women who delivered at an academic teaching hospital and received peripartum anticoagulation between January 2000 and August 2009. Women with known bleeding disorders were excluded. Results In total, 195 cases were identified with mean age 31.3 years and gestational age of 37.7 weeks. Of these, 49% had a history of VTE, 21% had active VTE in the index pregnancy, and 63% had vaginal delivery. Types of anticoagulation used antepartum were unfractionated heparin (UFH) (43%) and low molecular weight heparin (LMWH) (36%), with 26% receiving therapeutic doses. The rate of haemorrhagic complications was 12.8%, with majority being PPH (80%). Sixty percent of the PPH occurred before reintroduction of anticoagulation postpartum. Use of therapeutic UFH antepartum was associated with increased risk of haemorrhagic complications compared to LMWH (OR 3.08, 95% CI 0.663 – 15.03, p = 0.183). Conclusion The rate of haemorrhagic complications is higher in women on peripartum anticoagulation compared with published incidence in unselected obstetric populations; however, this rate is similar to our institution’s reported rates. Our findings inform clinicians about competing risks of thrombotic and haemorrhagic complications in this population.

Staphylococcus Aureus colonization and bacteremia in children with cancer.

Blood ◽  
2009 ◽  
Vol 114 (22) ◽  
pp. 3666-3666
Author(s):  
Ashok Srinivasan ◽  
Steven Seifried ◽  
Liang Zhu ◽  
Deo Kumar Srivastava ◽  
Matthew Bankowski ◽  
...  
Keyword(s):  
Staphylococcus Aureus ◽  
Conflicts Of Interest ◽  
Methicillin Resistance ◽  
Healthy Children ◽  
Children With Cancer ◽  
Spa Typing ◽  
Patients With Cancer ◽  
Number Of Patients ◽  
Increased Risk ◽  
Rectal Colonization

Abstract Abstract 3666 Poster Board III-602 Background Staphylococcus aureus is an important cause of blood stream infections in children and adults. In recent years, new strains of methicillin-resistant S. aureus (MRSA), also known as community-acquired (CA)-MRSA have been isolated from otherwise healthy individuals. These strains frequently carry the Panton-Valentine Leukocidin (PVL) leukotoxin and belong to spa type 8; USA300 genotype, which is the most common strain causing CA-MRSA infections in the U.S. The clinical course of infections with PVL-positive S.aureus strains appears to be more severe than infection from PVL-negative strains. Bacteremia due to these strains has been reported in children, adolescents and adults. It is not known if methcillin-resistance or infection with CA-MRSA strains adversely affects outcome in children with cancer. Colonization of MRSA in healthy children has increased significantly since 2001 and has shown to be a risk factor for subsequent infection. However the prevalence of nasal and rectal colonization with MRSA; in particular with PVL-positive strains and the relationship between colonization and infection is not known in children or adults with cancer. Methods The epidemiology of MRSA and methicillin-sensitive S.aureus (MSSA) bacteremia and prevalence of MRSA nasal and rectal colonization in children with cancer was retrospectively studied from 2000 to 2007. Medical record review included patient demographics, underlying disease and antimicrobial susceptibility patterns of the MRSA and MSSA bacteremia isolates. Molecular typing was performed by polymerase chain reaction (PCR) on all isolates for detection of the PVL genes. Staphylococcus cassette chromosome (SCC) mec and spa typing was performed on all PVL-positive MRSA and MSSA bacteremia isolates and MRSA isolates causing colonization and infection. Demographic and treatment variables were compared between patients with MRSA and MSSA bacteremia and patients with PVL-positive and PVL-negative MRSA and MSSA bacteremia using exact two-sample Wilcoxon rank sum test or robust rank sum test for unequal variances and Fisher's exact chi-square test. The trend of MRSA/MSSA bacteremia and MRSA colonization was evaluated by logistic regression models. Results Ten (19%) MRSA and 42 (81%) MSSA isolates from clinically distinct infectious bacteremic episodes were collected from 52 patients with cancer during the eight year study period. The proportion of cancer patients with MRSA, or MSSA bacteremia did not change significantly over the duration of the study. A third of the patients, 17 (33%), had complications. Thirty-eight (73%) of the bacteremic episodes were catheter-related. Catheters were removed significantly more often for MRSA infections than for MSSA infections for persistently positive blood cultures or complications (p=0.003). Subcutaneous ports was removed significantly more often than Hickman catheters (p= 0.005). The number of patients with persistently positive MRSA bacteremia were higher as compared to MSSA bacteremia (p= 0.004). Methicillin resistance was associated with decreased susceptibility to erythromycin (p=0.0003) and gentamicin (p=0.03). The difference in PVL positivity between MRSA and MSSA was statistically significant (P=0.01). None of the other variables studied including complications were significantly different between patients with MRSA or MSSA bacteremia or between patients with PVL-positive and PVL-negative S.aureus bacteremia. The number of patients colonized with MRSA compared to the total number of samples tested increased significantly between 2000-2001 and 2006-2007 (p=0.0007). PVL-positivity was associated both with increased colonization (p=0.004) and with an increased risk of infection (p=0.0005). There was a discordance in the spa types between the colonization and infection isolates. Conclusions This report represents the first description of the epidemiology of S.aureus bacteremia and colonization including analysis of PVL-positive strains in children with cancer. Methicillin-resistance or PVL-positivity did not appear to be associated with a worse outcome in our patient population. The number of patients colonized with MRSA increased significantly during this time period. PVL-positivity was associated with an increased risk of colonization and infection. Further studies are needed to confirm these observations in patients with cancer. Disclosures: No relevant conflicts of interest to declare.

Malignancy Risk Markers in a Cohort of Referrals for Lymphadenopathy; An Evaluation of Clinical Features Including Lymph Node Size

Blood ◽  
2016 ◽  
Vol 128 (22) ◽  
pp. 2385-2385
Author(s):  
Orlando Esparza ◽  
Ana Xavier ◽  
Matthew A. Kutny ◽  
Julie A. Wolfson ◽  
Jeffrey D. Lebensburger
Keyword(s):  
Uric Acid ◽  
Platelet Count ◽  
Blood Cell ◽  
Lymph Nodes ◽  
Clinical Features ◽  
Research Funding ◽  
Chart Review ◽  
Retrospective Chart Review ◽  
Risk Markers ◽  
Pediatric Hematology

Abstract Background: Lymphadenopathy is a common pediatric problem that pediatricians and general practitioners face in their clinic. Although typically found in the setting of an infection and benign in nature, referrals to a Pediatric Hematologist/Oncologist are sometimes made to evaluate for hematologic malignancy. The associated health care costs and potential psychological impact on family members as a result of making a referral to a hematology/oncology specialist warrants consideration. To better understand the outcomes of patients with lymphadenopathy and provide evidence based recommendations for need for referral, we have conducted a retrospective chart review to assess clinical features as risk markers for malignancy among patients referred for lymphadenopathy. Methods: We conducted a retrospective chart review of 1,164 patients referred to the Division of Pediatric Hematology Oncology at Children's of Alabama over a four year period (2013-2016). The diagnosis and demographics were recorded for every patient. Location of lymphadenopathy (cervical, supraclavicular, axillary, abdominal, inguinal, and mediastinal) and size of lymph nodes on exam and imaging were recorded. Symptomatology (fever, night sweats, weight loss, fatigue, bone pain, shortness of breath, and bleeding symptoms) and laboratory findings, such as white blood cell (WBC), Hemoglobin, Platelet count, lactate dehydrogenase (LDH), uric acid, and erythrocyte sedimentation rate (ESR) were recorded. Descriptive statistics, Student's t-test, and Wilcoxon signed-rank test were conducted using JMP® 12. Sensitivity and specificity were calculated using a conventional two-by-two table (2x2). Results: Among 1,164 patients that were referred to Pediatric Hematology Oncology, sixty nine (5.9%) were referred for lymphadenopathy. Sixty one (88.5%) out of sixty nine patients presented to our clinic for evaluation. Thirteen patients (21%) were diagnosed with malignancy (11 lymphoma, 2 leukemia). While all patients in this cohort were referred for concern of enlarged lymph nodes (lymphadenopathy) by their primary physician, we assessed the sensitivity and specificity of utilizing a cut-off of ≥ 2cm assessed by physical exam or imaging to define a population with "abnormal lymphadenopathy". In total 32 patients met this criteria for abnormal lymphadenopathy. All 13 patients who ultimately were diagnosed with a malignancy by biopsy met this size criteria for abnormal lymphadenopathy in at least one location (sensitivity 100%). Nineteen of 42 patients without malignancy were noted to have abnormal lymphadenopathy in at least one location (specificity 55%). The mean age of patients with lymphadenopathy was 9.49 years. Older patients were more likely to have a diagnosis of malignancy (13.61 years vs. 8.38 years, p=0.0034). Mean months of lymphadenopathy was 8.2 months. No statistical difference was noted between months of lymphadenopathy present and diagnosis of malignancy (p=0.56). Patients with malignancy had a significantly higher WBC (43.5 10*3/ µL vs. 27.6 10*3/ µL, z = 2.84, p=0.0044) than patients without malignancy. No statistical differences were noted for patients with and without malignancy for hemoglobin (p=0.9), platelet count (p=0.7), LDH (p=0.2), uric acid (p=0.5), or ESR (p=0.7). None of the symptomatology parameters demonstrated a sensitivity greater than 60%. Conclusion: Lymphadenopathy is a common pediatric problem in the outpatient setting that may require referral to a Pediatric Hematologist/Oncologist to evaluate for malignancy. Our data suggests that lymphadenopathy≥2cm in at least one location either by physical exam or imaging is highly sensitive for malignancy. Thus, pediatricians and general practitioners should consider continued monitoring and conservative management of patients with lymphadenopathy <2cm. Our data also supports that in the context of lymphadenopathy, evaluation of blood cell counts is important and an elevated WBC should prompt greater concern for malignancy. By taking this approach, referrals may be reduced resulting in fewer costs and avoidance of psychological stressors among family members. Disclosures Lebensburger: American Society of Hematology, Scholar Award: Research Funding; NHLBI: Research Funding.

Combined Open Septorhinoplasty and Functional Endoscopic Sinus Surgery

2005 ◽  
Vol 133 (3) ◽  
pp. 436-440 ◽  
Author(s):  
Jonathan H. Lee ◽  
David A. Sherris ◽  
Eric J. Moore ◽  
Jonathan H. Lee ◽  
David A. Sherris ◽  
...  
Keyword(s):  
Endoscopic Sinus Surgery ◽  
Chart Review ◽  
Retrospective Chart Review ◽  
Functional Endoscopic Sinus Surgery ◽  
Sinus Surgery ◽  
Complication Rates ◽  
Patients Âgés ◽  
Increased Risk ◽  
Clinically Significant ◽  
The Individual

OBJECTIVE: To compare perioperative and early postoperative complication rates of performing open septorhinoplasty (OSR) and functional endoscopic sinus surgery (FESS) concomitantly or individually. STUDY DESIGN AND SETTING: Retrospective chart review of 55 patients treated at an academic referral center who had undergone combined OSR and FESS. Complication rates for the combined procedures were compared with published complication rates for the individual procedures. RESULTS: Patients’ ages ranged from 14 to 77 years (average, 43 years). Among the 55 cases, there were no major complications and 6 (11%) minor complications: 4 cases of cellulitis (7%; previously published risk, 1%-3%) and 2 cases of postoperative epistaxis (4%). CONCLUSION: OSR and FESS may be performed safely in combination without a clinically significant increased risk of complications. SIGNIFICANCE: The slightly increased risk of cellulitis may warrant the use of intraoperative sinus irrigation and postoperative antibiotic prophylaxis after combined OSR and FESS.

scholarly journals Incidence of Autoimmune and Related Disorders After Resolution of Endogenous Cushing Syndrome in Children

2018 ◽  
Vol 50 (04) ◽  
pp. 290-295 ◽  
Author(s):  
Christina Tatsi ◽  
Meg Keil ◽  
Charalampos Lyssikatos ◽  
Elena Belyavskaya ◽  
Constantine Stratakis ◽  
...  
Keyword(s):  
Autoimmune Diseases ◽  
Chart Review ◽  
Cushing Syndrome ◽  
Retrospective Chart Review ◽  
Autoimmune Disorder ◽  
Hashimoto Thyroiditis ◽  
National Institutes Of Health ◽  
Glucocorticoid Treatment ◽  
Related Disorder ◽  
Autoimmune Conditions

AbstractGlucocorticoids are widely used for immunosuppression in autoimmune diseases. After the resolution of hypercortisolemia, the immune system recovers allowing for autoimmune diseases to manifest. Here we investigated the presence of autoimmune and related diseases that developed after cure of endogenous Cushing syndrome (CS) in children. We identified 129 children who were diagnosed and successfully treated for endogenous CS at the National Institutes of Health from 1997 until 2017, and who were followed for at least 6 months after treatment. We performed a retrospective chart review analysis to identify the presence of autoimmune or related diseases after cure. Ten children were diagnosed with a new autoimmune or related disorder after resolution of hypercortisolemia. This results in a frequency of 7.8% of our pediatric CS population. The identified patients had a shorter duration of hypercortisolemia prior to diagnosis, but did not otherwise differ from the remaining patients. The various identified diseases were: celiac disease (n=1), psoriasis (n=1), Hashimoto thyroiditis (n=1), Graves disease (n=1), optic neuritis (n=2), skin hypopigmented lesions/vitiligo (n=2), allergic rhinitis/asthma (n=1), and neuropathy responding to glucocorticoid treatment (n=1). The reported time between the treatment of CS and diagnosis of autoimmune disorder ranged from 6 to 19 months. The presence of autoimmune or related diseases might be masked by the hypercortisolemic state in endogenous CS. After resolution of hypercortisolemia, the presentation of new autoimmune diseases or recurrence of previously known autoimmune conditions should be considered when concerning symptoms arise.

scholarly journals Clinical features of gastroesophageal reflux disease in children with different genotypes of C825T polymorphic loci of GNB3 gene

2017 ◽  
Vol 86 (3) ◽  
pp. 207
Author(s):  
Marta Dats-Opoka ◽  
Halyna Makukh
Keyword(s):  
Gastroesophageal Reflux Disease ◽  
Gastroesophageal Reflux ◽  
Nutritional Status ◽  
Clinical Features ◽  
Reflux Disease ◽  
Control Group ◽  
Healthy Children ◽  
Polymorphic Loci ◽  
Increased Risk ◽  
Significant Difference

Introduction. Considering the steady growth of the gastroesophageal reflux disease (GERD) in children in recent decades, the difficulty of GERD diagnosing in children, the variety of GERD clinical and morphological features as well as the factors that cause it, including genetic predisposition, a detailed analysis of each of them remains relevant.Aim. To analyze the peculiarities of nutritional status in children with GERD and its correlation with the different genotypes of C825T polymorphic loci of GNB3 gene as well as its association with different GERD clinical manifestations.Material and Methods. The analysis of GERD clinical features was carried out and the nutritional status in 100 children of school age was estimated. Molecular and genetic research of C825T loci of GNB3 gene using PCR method (rs5443) was carried out in the studied group (100 children) and in 40 healthy children that formed the control group.Results. The distribution of the genotypes of C825T polymorphic loci of the GNB3 gene in children with GERD and healthy children in the control group did not have any statistically significant difference (χ2 = 0.27, р = 0.87). Among more than a half of the children in both groups, the GNB3 825ST heterozygous genotype were detected (54.0% of the experimental group and 57.5% of the control group), according to de Vries et al. data is a factor of GERD increased risk. The association between the genotype of C825T locus of GNB3 gene and the data of intragastric endoscopy with pH monitoring was found: in patients with hyperacidic GERD the genotype 825CT was predominantly revealed, and in children with normal and hypoacidic GERD a higher frequency of the 825TT genotype was found. In children with GERD having a lack of the nutritional status (61%), the genotype 825CT (61.82%, p = 0.013) and 825TT (100%, p = 0.005) of the GNB3 gene were detected significantly more often.Conclusions. The distribution of the genotypes of C825T polymorphic loci of the GNB3 gene in children with GERD was determined. Differences in GERD development depending on the different GNB3 genotypes were not detected. The distribution of the genotypes of C825T loci of the GNB3 gene remained unchanged at different GERD clinical manifestations. The presence of 825CT and 825TT genotypes of GNB3 gene in patients with GERD is associated with a decrease in physical development signs. The association between genotype of C825T loci of GNB3 gene and pH intragastric endoscopy data was identified: in patients with hyperacidity GERD 825CC genotype was usually found, and in children with normal- and hypoacidity GERD 825TT genotype was usually found.

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