Adult Disease Patients Research Articles

Calprotectin levels in meconium measured with an automated immunoassay (Liaison® XL)

A threshold of 50μg fecal calprotectin per g stool sample (μg/g) is commonly used to diagnose chronic inflammatory bowel disease in adult patients and children over 4 years of age. In younger children, fecal calprotectin values are physiologically increased. For the first time, the objective of our study was to establish reference ranges in newborns for the measurement of meconium calprotectin with an automated assay (Liaison® XL, DiaSorin). A prospective study was conducted in 2022 in the Maternity Unit of the Clermont-Ferrand University Hospital, with the inclusion of full-term newborns without intestinal involvement. The quantitative automated Liaison® XL calprotectin assay was assessed on a panel of meconium samples. In our cohort of 132 term neonates, calprotectin values ranged from 21 to 855μg/g of meconium (2,5th to 97.5th percentile) and the median value was 194μg/g. In our cohort, only sex-relateddifferenceswereobserved for calprotectin values. No significant differences were found for the other factors studied (maternal or neonatal). Because of inter-individual variability, a sequential measurement of newborn calprotectin from meconium should be considered.

Clinical significance of late CMV disease in adult patients who underwent allogeneic stem cell transplant

IntroductionLate cytomegalovirus (CMV) disease, which was defined as CMV disease occurring >100 days post-transplant, remains an important complication among allogeneic stem cell transplant recipients, even now that the prophylactic strategy using ganciclovir preemptive therapy has been established. Due to the recent expansion of donor sources and conditioning regimens, it is therefore appropriate to reevaluate the incidence, risk factors, and clinical impacts of late CMV disease. MethodsThis study included the 1295 adult patients, who underwent transplant for the first time from 2008 to 2015, without underlying disease relapse or CMV disease within 100 days post-transplant. There were no restrictions on underlying diseases or transplant procedures. ResultsDuring the median follow-up period of 48.4 months, 21 patients developed late CMV disease and the 5-year cumulative incidence of late CMV disease was 1.6%. By multivariate analysis, haploidentical related donor, adult T-cell leukemia lymphoma, and preemptive therapy before 100 days post-transplant were extracted as independent risk factors. Late CMV disease negatively affected transplant outcomes, and was identified as an independent risk factor for the non-relapse mortality rate (hazard ratio 3.83, p < 0.001) and overall survival rate (hazard ratio 4.01, p < 0.001). Although 17 of 21 patients with late CMV disease died, the main causes of death were not related to CMV, except in three patients with CMV pneumonia. ConclusionsAlthough the incidence of late CMV disease is low in transplant recipients, this complication negatively affects clinical courses. Therefore, transplant recipients with these risk factors should be more carefully managed.

Retrospective Analysis of the Burden of Illness of Eosinophilic Granulomatosis With Polyangiitis (EGPA) Versus Asthma in Commercially Insured US Patients.

Background andaim Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare inflammatory disorder associated with the presence of blood and tissue eosinophilia, extravascular granulomas, and asthma. Currently, the burden of EGPA on the patient and the healthcare system is not well characterized. This study aimed to assess the real-world clinical and economic burden of disease in adult patients with EGPA compared with matched patients with asthma without EGPA. Methods This retrospective cohort study used medical, pharmacy, enrolment, and demographic data from a US administrative claims database (PharMetrics Plus). Patients ≥18 years old, with ≥six months of continuous health plan enrolment in the baseline period, and ≥12 months of continuous health plan enrolment in the follow-up period were eligible for this analysis. Patients with EGPA and patients with asthma without EGPA were identified using diagnosis codes and were subsequently matched 1:5 (e.g., one patient with EGPAmatched with five patients with asthma, without EGPA) based on baseline characteristics. The primary outcome measure was all-cause healthcare costs; secondary outcomes included healthcare resource utilization, medication usage, and clinical characteristics. Results In the final matched cohorts, there were 7183 patients with EGPA and 35,915 patients with asthma without EGPA. During the follow-up period, mean total all-cause healthcare costs were significantly higher in patients with EGPA than in those with asthma without EGPA (mean {standard deviation}: $44,405 {$82,060} vs $24,487 {$54,691}; p<0.0001). Patients with EGPA had mean total all-cause healthcare costs that were 73.9% greater than those in patients with asthma without EGPA, even after applying a multivariable analysis to adjust for differences in demographic and clinical characteristics. Medication usage was consistently higher in the EGPA population than in the asthma population (excepting short-acting β2-agonists). The majority of patients in the EGPA population (83.1%) also experienced ≥one relapse during the study period, with 26.3% of patients in the EGPA population experiencing a major relapse. Conclusions There is a significantly greater economic and clinical burden associated with EGPA compared with asthma without EGPA in adults. These results underscore the unmet need in this patient population for improved disease control strategies that will reduce the burden of EGPA on patients and the healthcare system.

The Prospect of Non-Alcoholic Fatty Liver Disease in Adult Patients with Metabolic Syndrome: A Systematic Review.

In recent years, there has been an increasing trend in the development of non-alcoholic fatty liver disease (NAFLD) due to lifestyle changes. The limited treatment option for the disease makes it challenging to manage. This study aims to summarize the relationship between NAFLD and metabolic syndrome (MetS) and to give a clear idea of the risk factors in this systematic research. The five databases screened were PubMed, Google Scholar, Science Direct, and BMC using keywords and Medical Subject Heading (Mesh) combinations. The keywords used are "Metabolic Syndrome,""Syndrome X,""Insulin Resistance,""Obesity,""Type 2 Diabetes,"and "Dyslipidemia."Articles underwent a detailed process of screening and quality appraisal. Using the English language as a primary filtering parameter, papers over the last 13 years, dating from 2010 to 2023, are the basis of this review. We reviewed all possible human studies documenting NAFLD with a component of MetS. A total of1106 papers were identified. After duplicate removal, 995 articles underwent a rigorous review, and35 articles were chosen for quality appraisal.A total of 15 articles are part of this systematic review.This systematic review strongly concludes that NAFLD predominates in MetS patients. The pathophysiology and insulin resistance that is shared by the two conditionsas well as the fact that obesity is at the center of both is the connecting factor in this. Besides various demographic and risk factors, physical activity and diet also play a role in the development of NAFLD. Consequently, more studies on this relevant topic are needed.

WED-304 - Prevalence of celiac disease in adult patients with cryptogenic liver disease

WED-304 - Prevalence of celiac disease in adult patients with cryptogenic liver disease

Hypophosphatasia: from birth to adulthood.

Hypophosphatasia (HPP) is an inherited disease caused by a low activity of tissue-nonspecific alkaline phosphatase, a hydrolase that removes phosphate groups from many molecules. Decreased alkaline phosphatase activity leads to the accumulation of three main metabolites, i.e., pyridoxal 5´-phosphate (PLP), inorganic pyrophosphate (PPi), and phosphoethanolamine. Impairment in PLP dephosphorylation induces seizures, while PPi accumulation inhibits bone mineralization. Clinically, HPP has a wide spectrum of presentations, ranging from neonatal death to an apparent lack of symptoms. This disease is classified into six subtypes according to the age at onset of first signs or symptoms. The clinical manifestations of the disease include rickets-like bone changes, bone demineralization, fragility fractures, reduced muscular strength, chest deformity, pulmonary hypoplasia, nephrolithiasis, nephrocalcinosis, and chondrocalcinosis. Treatment of HPP consists of enzyme replacement therapy. Before this therapy was approved, treatment was palliative and associated with high morbidity and mortality. Asfotase alfa has changed the prognosis of the disease by reducing bone deformity and improving bone mineralization, lung function, and muscle weakness, among other benefits. In adults, teriparatide and anti-sclerostin antibody have been used off-label in selected cases, demonstrating benefit in accelerating fracture healing and in concomitant treatment of osteoporosis. This review summarizes the main aspects of HPP and identifies the particularities of the disease in adult patients.

New developments related to lung complications in pediatric rheumatic disease.

While substantial progress has been made understanding lung disease in adult patients with rheumatic disease, pediatric lung disease has not been well addressed. Several recent studies provide new insights into diagnosis, management and treatment of lung disease in children with rheumatic disease. Building on previous research, newly diagnosed patients may have abnormalities in pulmonary function tests and chest computed tomography imaging even when asymptomatic. New guidelines for screening for rheumatic-associated lung disease provide important recommendations for clinicians. New theories have been proposed about immunologic shifts leading to the development of lung disease in children with systemic juvenile idiopathic arthritis. Additionally, there are new antifibrotic agents that are being explored as treatments in pediatric patients with fibrotic lung diseases. Patients appear to have frequent lung function abnormalities while being clinically asymptomatic, emphasizing importance for rheumatologists to refer for pulmonary function tests and imaging at diagnosis. New advances are helping define optimal approaches to treatment of lung disease, including use of biologic agents and antifibrotic medicines for pediatric patients with rheumatologic diseases.

Celiac disease in adult patients with type 1 diabetes: screening and clinical and paraclinical profile

Searchable abstracts of presentations at key conferences in endocrinology ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

PO-04-048 LYME CARDITIS PRESENTING AS ACCELERATED JUNCTIONAL RHYTHM IN ADULT PATIENT

Lyme carditis occurs in 1.5%-10% untreated patients infected with Borrelia burgdorferi in United States and usually manifests as varying degrees of atrioventricular (AV) block, myopericarditis, and degenerative valve disease. Several cases of junctional tachycardia have been reported in children with Lyme disease, but there have not been any cases reported in the adult population. Here, we report a case of accelerated junctional tachycardia in a 42-year-old woman with Lyme carditis. To describe a case of a Lyme carditis presenting as accelerated junctional rhythm in a 42-year-old patient. N/A A 42-year-old woman with no significant past medical history presented with complaints of palpitations and lightheadedness. She had a tick bite on her left anterior upper thigh one month prior while working in her yard. The tick was removed after about 3 hours. At that time the patient had no fevers, arthralgias or rashes; however, a month later she developed symptoms of palpitations and lightheadedness. A 12-lead ECG showed accelerated junctional rhythm with AV and VA dissociation and was otherwise normal (Fig 1A). Her primary care physician conducted Lyme serology, which came back positive for both IgG and IgM. A diagnosis of Lyme carditis was made, and the patient was admitted to the hospital for IV antibiotics. Repeat ECG showed sinus with PR prolongation to 252 ms along with episodes of accelerated junctional rhythm (Figure 1B and 1C). She was started on intravenous ceftriaxone with continuous cardiac monitoring. Echocardiogram showed no abnormalities. A peripherally- inserted central catheter line was placed for a 4-week course of ceftriaxone. Her PR interval normalized within 2 weeks of treatment with no junctional rhythm or heart block on serial ECGs and Holter monitors (Figure 1D). Follow-up over the next year showed no recurrence of symptoms or arrhythmias and no other cardiac sequelae. To the best of our knowledge, accelerated junctional rhythm has not been previously reported in the setting of Lyme disease in adult patients. Herein, we report a case of a Lyme carditis presenting as symptomatic accelerated junctional rhythm in a 42-year-old patient, likely caused by inflammation of AV nodal tissue.

A Familial Cohort of Adult-Onset Alexander Disease (P12-3.016)

<h3>Objective:</h3> To describe a familial cohort of adult-onset Alexander Disease. <h3>Background:</h3> Leukodystrophies are a group of rare, hereditary disorders characterized by abnormal myelination. Each leukodystrophy is caused by abnormalities in one or more genes leading to abnormal production of myelin (hypomyelination) or destruction (demyelination). Leukodystrophies are also classified by the region of the brain or in some cases peripheral nerves that are affected. Alexander Disease is a leukodystrophy characterized by a confluent pattern of demyelination. It is caused by autosomal dominant gain-of-function mutation in the <i>GFAP (glial fibrillary acidic protein)</i> gene. <i>GFAP</i> serves an intermediate filament protein of mature astrocytes; incorrect formation of the protein can lead to astrocyte cytoskeletal collapse and abnormal protein aggregation. Clinically, this can lead to innumerable neurologic manifestations in the affected individual. Alexander Disease predominantly affects neonates, infants, children and rarely adults. We describe a familial cohort of adult-onset Alexander Disease associated with a c.758C&gt;G (p.A253G) mutation of GFAP. This mutation has previously been described in neonates. In this case series we describe the clinical and radiologic features of three sisters with adult-onset symptoms. The first patient is a 53-year-old female who presented with progressive myelopathy and later developed bulbar symptoms. Her 51-year-old sister developed progressive, bilateral leg weakness and gait disturbance. She progressed to have profound cognitive dysfunction. The MRI features include T2 hyperintensities with atrophy in the midbrain and upper cervical spine with peripheral rim brainstem and periventricular garlands. <h3>Design/Methods:</h3> N/A <h3>Results:</h3> N/A <h3>Conclusions:</h3> These cases describe the clinical and radiologic features of a familial cohort of adult-onset Alexander disease in a mutation previously described only in childhood onset. This also illustrates the importance of considering a diagnosis of Alexander Disease in adult patients and the necessity of genetic analysis of patients and their family members. <b>Disclosure:</b> Dr. Wolf has nothing to disclose. Dr. Gettings has nothing to disclose. Dr. Goodrich has received personal compensation in the range of $500-$4,999 for serving as a Consultant for EMD Serono.

Diagnosis and severity criteria for sinusoidal obstruction syndrome/veno-occlusive disease in adult patients: a refined classification from the European society for blood and marrow transplantation (EBMT).

Sinusoidal obstruction syndrome, also known as veno-occlusive disease (SOS/VOD), is a potentially life-threatening complication that can develop after hematopoietic cell transplantation (HCT). A new definition for diagnosis, and a severity grading system for SOS/VOD in adult patients, was reported a few years ago on behalf of the European Society for Blood and Marrow Transplantation (EBMT). The aim of this work is to update knowledge regarding diagnosis and severity assessment of SOS/VOD in adult patients, and also its pathophysiology and treatment. In particular, we now propose to refine the previous classification and distinguish probable, clinical and proven SOS/VOD at diagnosis. We also provide an accurate definition of multiorgan dysfunction (MOD) for SOS/VOD severity grading based on Sequential Organ Failure Assessment (SOFA) score.

Persistent Molecular Disease in Adult Patients With AML Evaluated With Whole-Exome and Targeted Error-Corrected DNA Sequencing.

Persistent molecular disease (PMD) after induction chemotherapy predicts relapse in AML. In this study, we used whole-exome sequencing (WES) and targeted error-corrected sequencing to assess the frequency and mutational patterns of PMD in 30 patients with AML. The study cohort included 30 patients with adult AML younger than 65 years who were uniformly treated with standard induction chemotherapy. Tumor/normal WES was performed for all patients at presentation. PMD analysis was evaluated in bone marrow samples obtained during clinicopathologic remission using repeat WES and analysis of patient-specific mutations and error-corrected sequencing of 40 recurrently mutated AML genes (MyeloSeq). WES for patient-specific mutations detected PMD in 63% of patients (19/30) using a minimum variant allele fraction (VAF) of 2.5%. In comparison, MyeloSeq identified persistent mutations above 0.1% VAF in 77% of patients (23/30). PMD was usually present at relatively high levels (>2.5% VAFs), such that WES and MyeloSeq agreed for 73% of patients despite differences in detection limits. Mutations in DNMT3A, ASXL1, and TET2 (ie, DTA mutations) were persistent in 16 of 17 patients, but WES also detected non-DTA mutations in 14 of these patients, which for some patients distinguished residual AML cells from clonal hematopoiesis. Surprisingly, MyeloSeq detected additional variants not identified at presentation in 73% of patients that were consistent with new clonal cell populations after chemotherapy. PMD and clonal hematopoiesis are both common in patients with AML in first remission. These findings demonstrate the importance of baseline testing for accurate interpretation of mutation-based tumor monitoring assays for patients with AML and highlight the need for clinical trials to determine whether these complex mutation patterns correlate with clinical outcomes in AML.

No biopsy approach to diagnose celiac disease in adult patients

South Baldwin Regional Medical Center Family Medicine Residency, Foley, AL The corresponding author is Timothy Mott; [email protected]. The authors declare no conflicts of interest.

Association of immune-mediated necrotizing myopathy with HLA polymorphisms.

Immune-mediated necrotizing myopathy (IMNM) is a type of autoimmune myositis typically characterized clinically by proximal muscle weakness with elevated creatine kinase levels, pathologically by myofiber necrosis and regeneration with paucity of lymphocytic cell infiltration, and serologically by the presence of either of two myositis-specific autoantibodies, anti-SRP, and anti-HMGCR antibodies. However, the HLA loci and alleles associated with IMNM are still not fully understood at least partly because IMNM was a relatively recently established condition. In this study, we genotyped the six HLA loci (HLA-A, -B, -C, -DRB1, -DQB1 and -DPB1) in 250 patients (237 patients over age 18 years and 13 juvenile patients) diagnosed with IMNM based on clinicopathological features and autoantibody information and performed a case control study with Japanese healthy subjects. In the adult patients, specific HLA alleles associated with IMNM were identified at all HLA loci, with DRB1*08:03 showing the strongest association (OR=2.5; p=0.00000017). Furthermore, subgroup analysis with various clinical information showed that C*03:04 (OR=3.7; p=0.00012) was a higher risk allele for collagen disease in adult patients, and B*13:01 (OR=23.2; p=0.021) and C*03:04 (OR=5.8; p=0.0074) were higher risk for juvenile patients with anti-HMGCR antibody-positive IMNM. These findings will help to better understand the HLA genetic background and features of IMNM in designing future studies.

Prevalence of Celiac Disease in adult patients with Non-Cirrhotic Portal Fibrosis

Prevalence of Celiac Disease in adult patients with Non-Cirrhotic Portal Fibrosis

Prevalence of Celiac Disease in adult patients of Cryptogenic liver Disease

Prevalence of Celiac Disease in adult patients of Cryptogenic liver Disease

Co-existent Celiac Disease in adult patients with all cause Cirrhosis of the liver

Co-existent Celiac Disease in adult patients with all cause Cirrhosis of the liver

OGBN O03 Role of Antegrade Stenting in Common Bile Duct Exploration for Biliary Stone Disease; Systematic Review and Metanalysis

Abstract Background It's estimated that approximately 10–18% of patients who have gall bladder stones have stones in the common bile duct (CBD). CBD stones could be managed either endoscopically, using ERCP, or surgically, using common bile duct exploration (CBDE). Following CBDE, closure of the CBD could be done by either primary closure, closure over the T tube, or over the antegrade biliary stent. Primary closure alone is usually associated with concerns over a high-pressure biliary system risking a bile leak. In the past the T-tube was the method of choice for CBD decompression following CBDE, however, it causes complications in up to 10% of patients. Antegrade biliary stent use has emerged as a good alternative to the T-tube being placed through the choledochotomy prior to primary closure of the CBD and it is believed to be associated with fewer complications and avoiding the discomfort of the T-tube. This study aimed to review the published studies for the outcomes of antegrade stenting of the CBD in CBDE for gall stone disease in adult patients. Methods The literature search was performed by an expert Information Specialist, Royal College of Surgeons of England Library in the electronic databases of MEDLINE, Embase, and the Cochrane Library to retrieve literature in the English Language up to September 2020 including all related studies except case reports discussing the use of antegrade stenting during CBDE for gall stone disease in adults &amp;gt;18-year-old excluding age&amp;lt;18 years, malignant cases, non-human studies, and non-English language results. Following the PRISMA protocol, studies were identified, and data were extracted. The studies describing the closure method after CBDE were reviewed. Data were extracted regarding the closure method either over T tube, over the antegrade stent, or primary direct closure without T tube or CBD stent. The primary outcome was the incidence of bile leak. Other outcomes were evaluated including mean length of hospital stay, failure of cannulation rate, average operative time, the incidence of cholangitis, acute pancreatitis, readmission and reoperation rates, biliary stent retention or migration, and CBD stones recurrence, and incidence of biliary stenosis requiring intervention. Analysis was performed with Review Manager (RevMan) [Computer program]. Version 5.4.1. The Cochrane Collaboration, 2020. Results Twelve eligible studies were analyzed reporting outcomes following CBDE mainly using T tube or antegrade stenting. Only one study reported outcomes after primary direct closure. The bile leak was less common in stent group compared to T tube group with risk ratio (RR) of 0.78 [95% CI 0.41, 1.50] (P = 0.46). Although this finding is statistically insignificant, it has clinical significance in minimizing risk of bile leak in the stent group. One study reported less frequent bile leaks in the stent group compared to primary closure of 8.6% and 16.7% respectively. The mean length of hospital stay (LOS) was shorter in stent group compared to T tube group with RR of -3.05 [95% CI -4.03, -2.08] (P &amp;lt; 0.00001). A study reported mean LOS in stent group to be 8.9 days compared to 6.46 days after primary closure. Likewise, the risk of readmission and reoperation favours stent group over T tube group with RR of 0.41 [95% CI 0.15, 1.15] (P = 0.09) and 0.41 [0.15, 1.08] (P = 0.07) respectively. On the other hand, the risk of pancreatitis is higher in stent group compared to T tube group with RR of 1.64 [95% 0.54, 4.97] (P = 0.38). Conclusions The use of antegrade stenting after CBDE offers less frequent bile leaks, shorter hospital stays less risk of readmission and reoperation over T tube use. Despite pancreatitis being more frequent in the antegrade stenting group, they are of variant clinical significance mostly biochemical diagnosis, and can be managed conservatively in the majority of cases. Few literatures report outcomes of primary direct closure after CBDE compared to other techniques, identifying a gap of knowledge requiring further studies in the future.

A RARE CASE OF HAEMOPHILUS INFLUENZAE CELLULITIS LEADING TO BACTEREMIA IN A HEALTHY ADULT

A RARE CASE OF HAEMOPHILUS INFLUENZAE CELLULITIS LEADING TO BACTEREMIA IN A HEALTHY ADULT

Tacrolimus treatment after short-term intravenous methylprednisolone in incipient minimal change disease for adults: A retrospective analysis

The present study aimed to investigate the efficacy and safety of tacrolimus for treating incipient minimal change disease in adults. The clinical data of 52 adult patients with minimal change disease of nephrotic syndrome diagnosed by renal biopsy in the First affiliated hospital of Zhengzhou University between August 2013 and August 2015 were retrospectively analyzed. According to the treatment plan, the patients were divided into a tacrolimus group and a glucocorticoid group. The efficacy and safety of tacrolimus in the treatment of minimal change disease in adult patients was analyzed and compared with that of glucocorticoids. The results revealed that the baseline characteristics of the two groups were similar (P>0.05). At 24 weeks, there was a significant difference in serum albumin between the two groups (P<0.01). The serum albumin levels of tacrolimus group was higher compared with the glucocorticoid group. In addition, the complete remission rates in the tacrolimus and glucocorticoid groups were 93.75 and 77.8%, respectively (P=0.095), and the mean complete remission time was 6.33±4.21 and 5.14±2.45 weeks, respectively (P=0.175). The relapse rate was 12.5 and 22.2% in the tacrolimus and glucocorticoid groups, respectively (P=0.368). During the follow-up, in tacrolimus group, the incidence of new onset diabetes or impaired glucose tolerance, osteoporosis, infection, abnormal liver function, Cushing's syndrome, acne and gastrointestinal symptoms were significantly less than those of glucocorticoids (P<0.05). In conclusion, tacrolimus treatment after short-time intravenous methylprednisolone is an effective treatment option with fewer adverse effects in adult onset minimal change disease.