Typical Presentation Research Articles

Thrombotic Microangiopathy After Hematopoietic Stem Cell and Solid Organ Transplantation: A Review for Intensive Care Physicians.

Intensive care physicians may assume the primary care of patients with transplant-associated thrombotic microangiopathy (TA-TMA), an uncommon but potentially critical complication of hematopoietic stem cell transplants (HSCTs) and solid organ transplants. TA-TMA can have a dramatic presentation with multiple organ dysfunction syndrome (MODS) associated with high morbidity and mortality. The typical presenting clinical features are hemolytic anemia, thrombocytopenia, refractory hypertension, proteinuria and worsening renal failure. Intestinal involvement, with abdominal pain, nausea and vomiting, gastrointestinal bleeding, and ascites are also common. Cardiopulmonary involvement may develop from various causes including pulmonary arteriolar hypertension, pleural and pericardial effusions, and diffuse alveolar hemorrhage. Due to other often concurrent complications after HSCT, early diagnosis and effective management of TA-TMA may be challenging. Close collaboration between ICU and transplant physicians, along with other relevant specialists, is needed to best manage these patients. There are currently no approved therapies for the treatment of TA-TMA. Plasma exchange and rituximab are not recommended unless circulating factor H (CFH) antibodies or thrombotic thrombocytopenic purpura (TTP; ADAMTS activity < 10%) are diagnosed or highly suspected. The role of the complement pathway activation in the pathophysiology of TA-TMA has led to the successful use of targeted complement inhibitors, such as eculizumab. However, the relatively larger studies using eculizumab have been mostly conducted in the pediatric population with limited data on the adult population. This review is focused on the role of intensive care physicians to emphasize the clinical approach to patients with suspected TA-TMA and to discuss diagnosis and treatment strategies.

Spastic Paraplegia Type 7-Associated Optic Neuropathy: A Case Series.

Hereditary optic neuropathies comprise a group of clinically and genetically heterogeneous disorders. Optic neuropathy has been previously reported in families with spastic paraplegia type 7 (SPG7) gene mutations. However, the typical time course and clinical presentation of SPG7-associated optic neuropathy is poorly understood. We report a series of 5 patients harboring pathogenic SPG7 mutations who originally presented to a neuro-ophthalmology clinic with symptoms of optic neuropathy. Retrospective case series of 5 patients with pathogenic SPG7 mutations and optic atrophy from 3 neuro-ophthalmology clinics. Demographic, clinical, diagnostic, and treatment data were collected and reported by the clinician authors. Five patients ranging in age from 8 to 48 years were evaluated in the neuro-ophthalmology clinic. Although there were variable clinical presentations for each subject, all noted progressive vision loss, typically bilateral, and several also had previous diagnoses of peripheral neuropathy (e.g., Guillain-Barré Syndrome). Patients underwent neuro-ophthalmic examinations and testing with visual fields and optic coherence tomography of the retinal nerve fiber layer. Genetic testing revealed pathogenic variants in the SPG7 gene. Five patients presented to the neuro-ophthalmology clinic with progressive vision loss and were diagnosed with optic atrophy. Although each patient harbored an SPG7 mutation, this cohort was phenotypically and genotypically heterogeneous. Three patients carried the Ala510Val variant. The patients demonstrated varying degrees of visual acuity and visual field loss, although evaluations were completed during different stages of disease progression. Four patients had a previous diagnosis of peripheral neuropathy. This raises the prospect that a single pathogenic variant of SPG7 may be associated with peripheral neuropathy in addition to optic neuropathy. These results support the consideration of SPG7 testing in patients with high suspicion for genetic optic neuropathy, as manifested by symmetric papillomacular bundle damage without clear etiology on initial workup. Applied judiciously, genetic testing, including for SPG7, may help clarify the cause of unexplained progressive optic neuropathies.

Assessment of knowledge gaps in STEMI management among intern doctors in moroccan emergency department: a descriptive analytical study

Abstract Introduction Acute coronary syndrome (ACS) remains a significant public health issue in Morocco despite progress in management and prevention. ACS includes ST-segment elevation myocardial infarction (STEMI), a life-threatening condition that requires prompt diagnosis and treatment. Intern doctors working in emergency department are critical in managing STEMI, but there is limited information on their knowledge and practice of this condition. Purpose This study aimed to assess the knowledge gaps in STEMI management among intern doctors working in emergency department in Morocco. Methods This study employed a descriptive analytical design to assess the knowledge gaps in STEMI management among 141 intern doctors working in emergency department in Morocco who were selected through convenience sampling. Data were collected using an online questionnaire consisting of 15 questions on diagnostic criteria, treatment options, and interpretation of three electrocardiograms (ECGs): one typical and two atypical. Descriptive statistical analysis was performed to summarize the data and calculate the percentages of correct answers for each question, and the data were analyzed using Microsoft Excel. Results 96.45% of the intern doctors had good theoretical knowledge of typical and atypical clinical presentation. However, only 52.48% knew the typical electrocardiographic presentation, and only 9.22% knew the revised atypical presentations. Regarding hospital management, 99.30% knew the superiority of angioplasty within 120 minutes, but only 29.08% knew the time limit for its implementation in symptomatic patients. In addition, 55.32% knew the contraindications of thrombolysis, 67.38% knew the essential elements of the loading dose, but only 18.44% knew the exact loading dose in elderly subjects and those with renal insufficiency. For complications, most physicians (85.82%) knew the complications of this pathology, 64.53% knew how to manage associated hypertensive emergencies, and 26.95% knew how to manage associated acute pulmonary edema. For clinical cases, 68.79% were able to identify the typical ECG of ST elevation in the extensive anterior territory. However, only 14.18% identified the two atypical electrocardiograms. Conclusion In conclusion, this study highlights the significant knowledge gaps in STEMI management among intern doctors working in emergency department in Morocco. While intern doctors had good theoretical knowledge of STEMI management, they struggled to apply this knowledge in practice, particularly when it came to interpreting ECGs and implementing time-sensitive treatments. These findings emphasize the urgent need for targeted training on STEMI management in emergency department, especially for young physicians who may lack experience in this area. By addressing these knowledge gaps, we can improve the management of STEMI and ultimately reduce the morbidity and mortality associated with ACS.

Spontaneous Coronary Artery Dissection: A Case Series Reviewing Typical Presentations of an Atypical Pathology

Introduction: Spontaneous coronary artery dissection (SCAD) is a rare cause of myocardial infarction. Patients suffering SCAD are often young women without typical risk factors for atherosclerotic heart disease. Clinicians should maintain a high index of suspicion for SCAD.Case series: We report three cases of patients with SCAD from a single physician in a six-month period. Each case is unique and highlights the varied presentations and epidemiological risk factors associated with this condition.Discussion: We believe these cases are unique in that they provide insights into the variable presentations and conditions frequently associated with SCAD and will help clinicians maintain a high index of suspicion for this difficult to diagnose and rare cause of type 2 myocardial infarction. We discuss differences in interventional techniques and medical management.

Abstract 14463: Beyond Sarcomere Mutations Plakophilin-2 and Familial Hypertrophic Cardiomyopathy

Background: Hypertrophic cardiomyopathy (HCM) is a genetically heterogeneous disorder with diverse clinical presentation, course and outcomes. It is commonly caused by mutations in sarcomeric genes. Non-sarcomeric gene mutations have been associated with HCM in certain metabolic and storage diseases. Pathogenic mutations in plakophilin-2 (PKP2) gene have been associated with enhanced desmosomal protein degradation and linked to arrhythmogenic right ventricular cardiomyopathy (ARVC), Brugada syndrome and dilated cardiomyopathy. We report an association between PKP2 gene mutation and familial HCM. Case presentation: A 65-year-old man with family history of HCM (maternal grandfather, 2 aunts and an uncle) presented with dyspnea on exertion (NYHA class II-III) and pedal edema. Echo showed severe LVH, mid-cavitary obstruction and LV apical aneurysm. Cardiac MRI confirmed findings (Figure:A and B) and additionally showed significant late gadolinium enhancement (Figure:C and D, &gt;20% of LV myocardium). Extended ambulatory heart monitor detected frequent runs on non-sustained ventricular tachycardia. A primary prevention ICD was implanted. Genetic testing identified a pathogenic mutation [c.1237C&gt;T (p.Arg413*)] in exon 5 of PKP2 gene resulting in premature translational stop signal and disrupted desmosomal protein plakophilin-2. Family screening (Figure:E) identified a sister with positive results who also had non-obstructive HCM (Figure:E). Discussion: We present a family with typical presentations of HCM and no phenotypic evidence of ARVC. This novel observation provides evidence for pleiotropic model of complex genotype-phenotype interactions through nonlinear networks. Further evidence would be needed to understand potential molecular basis of hypertrophic signaling in PKP2 gene mutation.

Carbonic anhydrase inhibitors limit complications in X-linked retinoschisis.

Carbonic anhydrase inhibitors (CAIs) reduce macular schisis in patients with X-linked retinoschisis (XLRS). The purpose of this study was to determine if CAIs reduce the incidence of complications from XLRS, including macular atrophy, retinal tears, and retinal detachment (RD), the most common causes of vision loss in patients with XLRS. For this retrospective interventional case series, a chart review of patients examined at Cincinnati Children's Hospital Medical Center [CCHMC] and Cincinnati Eye Institute [CEI] between 1/1/2015 and 1/16/2023 was performed. Male patients were included based on genetically-confirmed RS1 or typical clinical presentation with known family history of XLRS with at least two follow-up visits. Twenty-eight patients (56 eyes) with XLRS were included. There were 10 RS1 variants among the 21 genotyped patients. Median age at clinical diagnosis was 10.4 years old (range: 0.4-55.7 years) with median follow-up time of 4.7 years (range: 0.2-38.3 years). Median presenting Snellen visual acuity was 20/60 (logMAR 0.48, range: 0.18-3). In 26 eyes of 15 patients treated with CAIs, median CST pre-treatment was 416 microns (range: 198-701 microns), and median percentage decrease in CST on treatment was 21.8% (range: 0-74.5%) from highest pre-treatment CST. Reduction in CST with CAI use was statistically significant (p = 0.02), but not logMAR VA (p = 0.64). There was no significant difference in CST between patients treated with topical vs. oral CAI (p = 0.95) or between patients with partial or complete CAI adherence (p = 0.60). Ten eyes of seven patients had an RD requiring surgical intervention. No treated eyes developed new macular atrophy, peripheral retinoschisis, retinal tears, or RD; two eyes on topical CAIs had spontaneous resolution of bullous peripheral retinoschisis. During the follow-up period, patients taking CAIs reduced macular schisis and did not experience new complications of macular atrophy, retinal tears, or RD. This is a relatively large cohort with long-term follow-up periods for patients with XLRS. Reduced macular schisis may not require perfect adherence with CAIs. A large, prospective, randomized, controlled clinical trial is needed to determine the potential of CAIs to improve visual function, reduce retinoschisis, and prevent RD.

DIFFERENTIAL DIAGNOSIS OF COMMUNITY-ACQUIRED PNEUMONIA FROM COVID-19 BY COMPUTED TOMOGRAPHY

The retrospective study was conducted on data collected from tertiary Care Hospitals from January 2020 to May 2021 to compare CT manifestations and clinical features of COVID-19 with CAP and evaluate the diagnostic accuracy of CT in patients with COVID-19 and CAP. The study included one hundred sixty patients with COVID-19 and 115 with CAP diagnosed during the same time. Clinical data and CT images of the participants were collected. Results showed that 134 (84.3%) patients in the COVID-19 group had ground glass opacities on CT scans. In the COVID-19 group, the typical early presentation was single or multiple small round lesions. 51 (31.8%) patients had small lesions, and 83 (51.8%) had large patches, areas of fusion, or density shadows with spots. In the CAP group, 69 (60%) patients had consolidation, and 45 (39.1%) had ground glass shadows. There was a significant difference in density between both groups (P &lt;.001). Of observed imaging and clinical manifestations, ground glass shadows, number of leukocytes, and age factor are clinically significant in diagnosing COVID-19. In the CAP group, major characteristics were the thickening of the bronchial wall, accumulation of textures and fibrous cords, and consolidated lung lesions. In COVID-19, common imaging manifestations of GGO and consolidation. Clinically, a CT scan should be used along with history and examination for early and accurate diagnosis of COVID-19.

Cerebral hemiatrophy and hemiparesis following hemiclonic status epilepticus in Dravet syndrome.

Dravet syndrome is currently considered as an developmental and epileptic encephalopathy and, recently, mandatory, alert, and exclusionary criteria have been proposed. Here, we describe three patients with Dravet syndrome with the typical early presentation including febrile and afebrile alternating hemiclonic seizures due to loss-of-function SCN1A variants. Subsequently, they developed episodes of febrile focal status epilepticus (SE) associated with hemiparesis and cerebral hemiatrophy with posterior focal seizures, as a consequence of Dravet syndrome. This sequence of events has been previously published in patients with Dravet syndrome and does not contradict the recent classification by the International League Against Epilepsy (ILAE). The ILAE guidance identifies "Focal neurological findings" as alert criteria and "MRI showing a causal focal lesion" as exclusionary criteria for making an initial diagnosis of Dravet syndrome at presentation. Our three patients would correspond to a severe phenotype, similar to the well-known presentation of generalized atrophy following prolonged status epilepticus. Common genetic findings in cases of diffuse and unilateral brain involvement may help explain these clinical presentations. Further genotype-phenotype studies may provide additional insights into this electroclinical behavior.

44 A Case Study of Non-Alcoholic Wernicke’s Encephalopathy in a Young Man with Intractable Vomiting

Objective:Wernicke’s encephalopathy (WE) is an acute neurological condition caused by thiamine deficiency. The typical presentation is characterized by a triad of oculomotor abnormalities, gait ataxia, and altered mental status, though patients rarely present with all three symptoms. WE is a serious medical condition that is associated with high rates of morbidity and mortality if left untreated. It is most commonly seen in patients with severe alcohol use disorder; however, it has also been found in patients with thiamine deficiency due to other causes of malnutrition such as prolonged starvation, hyperemesis, dialysis, cancer, and geriatric surgery. Despite growing research demonstrating WE in non-alcoholic populations, it is frequently misdiagnosed in patients without an extensive alcohol-use history, particularly when they do not present with the typical clinical triad of symptoms. Thus, more knowledge about non-alcoholic WE is needed to improve diagnostic accuracy.Participants and Methods:We present a case of a 26-year-old male with an unremarkable alcohol use history, who was diagnosed with WE following a 6-week period of excessive nausea and vomiting of unclear etiology. He presented to the ED three times prior to his diagnosis, and was treated with intravenous hydration, Zofran, and Pepcid. He presented to the ED for the fourth time with altered mental status and gait ataxia and was diagnosed with WE based on MRI findings. He was admitted and treated with high doses of IV thiamine and folate. His clinical course was tracked over time via outpatient neurology examinations, and his cognitive functioning was assessed with an outpatient neuropsychological evaluation approximately six months post-discharge. Record review, including clinical notes, lab tests, and imaging results supplement his outpatient neuropsychological evaluation performance.Results:Data from a comprehensive outpatient neuropsychological evaluation approximately six months after WE diagnosis is presented. His cognitive profile was characterized by impaired performance on measures of verbal fluency and memory, including encoding and retention of verbal and visual information (with minimal benefit from cueing). Given these impairments and continued functional declines related to cognitive deficits, he met criteria for a Major Neurocognitive Disorder. These results demonstrate persistent cognitive deficits beyond the acute WE period.Conclusions:WE is a serious neurological condition that can have lasting cognitive effects if left untreated. This case demonstrates persistent cognitive impairments six months after WE diagnosis in a young patient with an unremarkable alcohol history. These findings highlight the necessity of increased diagnostic efficiency of WE in non-alcoholic patients, as immediate thiamine treatment is essential to the recovery process. Neuropsychological functioning at a longer interval will be useful in further elucidating cognitive prognosis as well as providing quality of life recommendations.

Clinical manifestations and expression of CD18 to guide the diagnosis of leukocyte adhesion deficiency type 1: Mexico experience

Background: Leukocyte adhesion deficiency type 1 (LAD-1) is an inborn error of immunity characterized by a defect in leukocyte trafficking. Methods: Patients with clinical suspicion of LAD-1 were referred to our institution. Complete blood count and flow cytometric analysis, to identify the expression of CD18, CD11b, and the lymphocyte population phenotyping, were performed, and statistical analysis was completed. Results: We report clinical manifestations and immunological findings of six Mexican patients diagnosed with LAD-1. The diagnosis was based on typical clinical presentation, combined with laboratory demonstration of leukocytosis, and significant reduction or near absence of CD18 and its associated molecules CD11a, CD11b, and CD11c on leukocytes. We found atypical manifestations, not described in other countries, such as early-onset autoimmunity or infections caused by certain microorganisms. Conclusions: Patients with LAD-1 may present with atypical manifestations, making flow cytometry an indispensable tool to confirm the diagnosis. We present the first report of LAD-1 patients in a Latin American country.

Clinical manifestations and expression of CD18 to guide the diagnosis of leukocyte adhesion deficiency type 1: Mexico experience.

Leukocyte adhesion deficiency type 1 (LAD-1) is an inborn error of immunity characterized by a defect in leukocyte trafficking. Patients with clinical suspicion of LAD-1 were referred to our institution. Complete blood count and flow cytometric analysis, to identify the expression of CD18, CD11b, and the lymphocyte population phenotyping, were performed, and statistical analysis was completed. We report clinical manifestations and immunological findings of six Mexican patients diagnosed with LAD-1. The diagnosis was based on typical clinical presentation, combined with laboratory demonstration of leukocytosis, and significant reduction or near absence of CD18 and its associated molecules CD11a, CD11b, and CD11c on leukocytes. We found atypical manifestations, not described in other countries, such as early-onset autoimmunity or infections caused by certain microorganisms. Patients with LAD-1 may present with atypical manifestations, making flow cytometry an indispensable tool to confirm the diagnosis. We present the first report of LAD-1 patients in a Latin American country.

Clinical manifestations and expression of CD18 to guide the diagnosis of leukocyte adhesion deficiency type 1: Mexico experience

Background: Leukocyte adhesion deficiency type 1 (LAD-1) is an inborn error of immunity characterized by a defect in leukocyte trafficking. Methods: Patients with clinical suspicion of LAD-1 were referred to our institution. Complete blood count and flow cytometric analysis, to identify the expression of CD18, CD11b, and the lymphocyte population phenotyping, were performed, and statistical analysis was completed. Results: We report clinical manifestations and immunological findings of six Mexican patients diagnosed with LAD-1. The diagnosis was based on typical clinical presentation, combined with laboratory demonstration of leukocytosis, and significant reduction or near absence of CD18 and its associated molecules CD11a, CD11b, and CD11c on leukocytes. We found atypical manifestations, not described in other countries, such as early-onset autoimmunity or infections caused by certain microorganisms. Conclusions: Patients with LAD-1 may present with atypical manifestations, making flow cytometry an indispensable tool to confirm the diagnosis. We present the first report of LAD-1 patients in a Latin American country.

Spontaneous Coronary Artery Dissection: A Case Series Reviewing Typical Presentations of an Atypical Pathology.

Spontaneous coronary artery dissection (SCAD) is a rare cause of myocardial infarction. Patients suffering SCAD are often young women without typical risk factors for atherosclerotic heart disease. Clinicians should maintain a high index of suspicion for SCAD. We report three cases of patients with SCAD from a single physician in a six-month period. Each case is unique and highlights the varied presentations and epidemiological risk factors associated with this condition. We believe these cases are unique in that they provide insights into the variable presentations and conditions frequently associated with SCAD and will help clinicians maintain a high index of suspicion for this difficult to diagnose and rare cause of type 2 myocardial infarction. We discuss differences in interventional techniques and medical management.

Overuse of EEG and ECG in children with breath-holding spells and its implication for the management of the spells.

Breath-holding spells (BHS) are common in children, but evidence-based clinical guidelines are lacking. We investigated a large population-based cohort of BHS patients, to propose a refined description of typical BHS and guidelines for its management. In a cross-sectional retrospective study, patients diagnosed with BHS in Southern Sweden 2004-2018 were recruited. Disease characteristics and diagnostic data were collected from patient medical records. In total, 519 patients, mean age at diagnosis 19.8 ± 13.8 months with equal gender distribution, were included. In 48.3%, BHS had already been diagnosed after one spell. During spells, 78.0% of patients were unresponsive. For 71.5%, atonic, tonic, tonic-clonic or myoclonic seizures were reported, and 78.0% of patients had a spell lasting less than 1 min. Electroencephalography was conducted in 30.4% and Electrocardiography in 45.1%. Six children (3.8%) had a pathological electroencephalogram, four of which had concomitant epilepsy and only 0.9% of children had electrocardiogram findings suggesting pathology, none showing long QT syndrome. Children with BHS were frequently subjected to unnecessary diagnostic interventions. We characterise a typical presentation of BHS and propose a management-algorithm, which is expected to reduce unnecessary usage of electroencephalography and electrocardiography.

Potentially fatal cerebral venous sinus thrombosis followed by a hemorrhagic stroke in a vaccinated patient: Do not rule out COVID-19 as a reason

Stroke is amongst the leading causes of morbidity and mortality globally. Majority of strokes are ischemic and up to 1/3rd ischemic strokes have infective etiology. In this post-pandemic era, SARS-CoV-2 is an established infectious agent which can precipitate it by various mechanisms. Though post-vaccination incidence of COVID-19 has dropped drastically, still new cases get reported with typical or atypical presentations. Irrespective of causation, malignant cerebral edema in stroke necessitates salvage neurosurgery. Hereby authors present an interesting diagnostic chase in a young female who presented in altered sensorium, underwent emergency decompressive craniectomy and neurologically recovered over subsequent days. Despite being double vaccinated, she developed potentially fatal COVID-encephalitis, cerebral venous sinus thrombosis (CVST), ischemic infarcts and hemorrhagic transformation. Suprisingly, there were cross reacting antibodies against antigens of herpes simplex virus (HSV), leptospira and cytomegalovirus (CMV) yielding false positivity on serology screening test, which spoofed us while carrying out infectious disease work up of stroke.

Effect of Ayurvedic Formulations on Abnormal Uterine Bleeding (Asrigdara): A Prospective Uncontrolled Multicenter Clinical Study

IntroductionAsrigdara in Ayurveda simulates the dysfunctional type of abnormal uterine bleeding (AUB) and is a common gynaecological complaint. It negatively affects the quality of life and is associated with the poor health of women. This study aimed to evaluate the effect of Ayurvedic formulations, Pushyanuga churna (PC) and Usheerasava (UA) in managing AUB. MethodsA multicenter, single-arm clinical study was conducted on 80 diagnosed patients of AUB. PC 3 g and UA 20 ml were given twice daily for 90 days. Clinical assessment was done at baseline, every 15th day for the initial 3 months, and on 120th day. Pictorial blood loss assessment chart score, visual analogue scale, and Psychological General Well-being Index were utilised to measure the outcome parameters. The safety of formulations was evaluated by reporting adverse drug reactions and changes in liver function tests and renal function tests at baseline and on 90th day. ResultsSixty-eight participants completed the trial. Data were analysed using SPSS version 28.0. The mean age of the participants was 31.7 ± 6.3 years and majority (73.5%) were multiparous. The most typical presentation was heavy menstrual bleeding in 92.6%, followed by frequent bleeding (52.9%). At baseline, 94.2% participants had a pictorial blood loss assessment chart score >100, which decreased to 30.7% at the end of the study. Highly significant changes (P < 0.001) were observed in frequent, prolonged bleeding and psychological general well-being index score. No adverse drug reactions and significant changes in safety parameters were found. ConclusionsPC and UA are effective, well-tolerable, and safe in managing AUB.

COVID-19 Vaccination and Its Relation to New-Onset Diabetes: A NarrativeReview.

The COVID-19 vaccination has been effective in preventing a lot of complications caused by SARS-CoV-2 and its variants. Meanwhile, diabetes mellitus, one of the root causes of many co-morbidities, exhibited itself during the COVID-19 pandemic and after COVID-19 vaccination. Diabetes mellitus introduced itself in a new perspective, leading to a variety of presentations and causing a significant number ofemergency admissions. Many of the pre-diabetes patients with no prior history of diabetes developed fulminant type 1 diabetes mellitus (T1DM) after the COVID-19 vaccination. Some cases of conversion of type 2 diabetes mellitus (T2DM) into T1DM were reported. Some prediabetes/diabetes patientspresented with the development of diabetic ketoacidosis after COVID-19 vaccination, whereas some previously healthy people with no relation to diabetes also developed acute exacerbations of new-onset T1DM or T2DM along with lethal ketoacidosis. The purpose of writing this review was to explore what kind of people are more prone to develop new-onset diabetes or diabetic complications, including diabetic ketoacidosis, the typical presentation of these patients, possible mechanisms that lead to these complications occurring after the COVID-19 vaccination, how they can be managed, and whether there is a good prognosis after management or not.

Gastroparesis and functional dyspepsia: A diagnostic dilemma

Functional dyspepsia and gastroparesis very frequently found gastric sensorimotor encountered in gastrointestinal practice has adverse impact on quality of life of patients. As the etiopathophysiology of these two condition is not clearly understood, the diagnosis becomes quite challenging. Typical presentation of these condition consist of epigastric distress, burning or discomfort, along with complaints of early satiety, postprandial fullness, bloating, nausea and vomiting. The clinician face diagnostic dilemma which can be overcome by eliciting a through medical history and clinical examination along with the use diagnostic tools such a gastric endoscopy and a 4-hour solid phase gastric emptying scan. This review presents the dilemmas encountered by clinician in diagnosing FD or GP in a patients and diagnostic workout required to resolve the same.

Dysautonomia in Amyotrophic Lateral Sclerosis.

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease, characterized in its typical presentation by a combination of lower and upper motor neuron symptoms, with a progressive course and fatal outcome. Due to increased recognition of the non-motor symptoms, it is currently considered a multisystem disorder with great heterogeneity, regarding genetical, clinical, and neuropathological features. Often underestimated, autonomic signs and symptoms have been described in patients with ALS, and various method analyses have been used to assess autonomic nervous system involvement. The aim of this paper is to offer a narrative literature review on autonomic disturbances in ALS, based on the scarce data available to date.

FRI553 ICI-induced Thyroid Ophthalmopathy With De Novo Graves’ Disease

Abstract Disclosure: S.I. Moctezuma: None. J. Perlman: None. J.S. Mammen: None. Background: Immune checkpoint inhibitors frequently target the thyroid gland. However, immune checkpoint inhibitor (ICI)-induced Graves’ disease (GD) is rare. To our knowledge, there are no reported cases of thyroid eye disease after immune checkpoint inhibitor therapy in patients with newly positive anti-thyroid antibodies. Clinical Case: An 81-year-old man developed thyroiditis within three weeks of a single dose of ipilimumab/nivolumab for the treatment of metastatic cholangiocarcinoma. ICI therapy was discontinued for cardiotoxicity. He presented one year later with onset of periorbital edema, pain with downgaze, redness, irritation and progressive proptosis with diplopia. He did not have a prior history of thyroid disease. Thyroid function tests before the start of ICI therapy revealed euthyroidism [TSH 2.982 uIU/mL (0.55 - 4.78)]. Symptoms of palpitations, weight loss, and hyper-defecation that characterized his initial presentation with thyroiditis were absent at the time of onset of eye disease. At presentation of thyrotoxicosis his TSH was &amp;lt;0.01 uIU/mL, free T4 3.6 ng/dL (0.89 - 1.76) total T3 190 ng/dL (60-180) Thyroid-peroxidase autoantibodies (TPOAb) and thyroid-stimulating immunoglobulin (TSI) were negative. When his visual symptoms appeared, TPOAb remained negative while a repeat TSI antibody was positive [0.64 IU/L (0.00 - 0.55)]. Thyroid ultrasound at the time of thyroiditis revealed a heterogeneous gland without discrete nodules and a normal vascular flow. Most cases of ICI-induced GD have been reported at the start of therapy, particularly in the first 6 weeks, although thyrotoxicosis has been described to occur as late as 224 days after starting PD-1 inhibitor. GD is more frequently reported with combination anti-CTLA-4 and anti-PD-1 therapy. Patients with thyroid ICI-induced adverse events experience either isolated hypothyroidism or thyroiditis spontaneously evolving towards hypothyroidism. However, ICI-induced GD is more likely to have a relapsing-remitting disease. In 2021, Peiffert et al. described the antibody profile for 243 patients with ICI-induced thyrotoxicosis. In this case series, 5 patients developed thyrotoxicosis with positive thyrotropin-receptor antibodies (TRAb). Only 2 patients had a typical clinical presentation of GD. TSI antibodies were not reported. Furthermore, none of the patients with positive TRAb had Graves’ ophthalmopathy. Conclusion: Our case demonstrates the acquisition of auto-antibodies capable of mediating Graves’ disease, and raises the possibility that thyroid eye disease-like orbital inflammation may occur as a side effect of immune checkpoint inhibitor therapy. These symptoms developed as late as one year after initiation of therapy. As with sporadic cases, this can occur in the absence of clinically significant hyperthyroidism. Presentation: Friday, June 16, 2023