Evaluation of The 10 Warning Signs In Immunodeficient Patients: Additional Suggestions

Objective: Ten warning signs of primary immunodeficiency (PID) were suggested by the Jeffrey Modell Foundation (JMF), to increase physician awareness of PID. These warning signs have not yet been evaluated for patients with secondary immunodeficiency (SID). This study investigated whether the 10 warning signs used for the diagnosis of PID are sufficient for the diagnosis of SID, and explored the possibility of additional signs.Methods: This prospective study was conducted between June and December 2020. The mothers of 162 patients with PID and SID, and mothers of 200 healthy children, were asked to complete a questionnaire about family and personal history in addition to the warning signs of PID developed by the JMF. A JMF score was created by giving one point for each “Yes” answer for the 10 warning signs of PID. Medical records of the patients were evaluated for possible additional warning signs for PID and SID. Results: The JMF scores of the PID (3.36 ± 1.65) and SID (3.72 ± 1.12) groups were significantly higher than the scores of the control group (0.34 ± 0.61) (p < 0.05). A sign for immunological evaluation in two patients without warning signs in the PID group was found to be chronic diarrhea. In addition to the 10 JMF warning signs, we found that consanguinity and a family history of tuberculosis were statistically significant in our PID group, compared with the SID and control groups. Conclusions: The JMF warning signs are important for early diagnosis of PID. Our study showed that these signs may also be used for the early diagnosis of SID in patients and, according to our results, in addition to the 10 JMF signs for PID, parental consanguinity, chronic diarrhea, and a family history of tuberculosis may also be considered warning signs for the early diagnosis of PID.

Acute Pediatric Chagas Disease in Antioquia, Colombia: A Geographic Location of Suspected Oral Transmission

Chagas disease, Trypanosoma cruzi infection, is an insidious cause of heart failure in Latin America. Early diagnosis and treatment are critical to prevent irreversible myocardial damage that progressively accumulates over decades. Several structural barriers account for the less than 1% of cases in Colombia being treated, including poor physician knowledge, especially considering that some regions are considered non-endemic. The two cases reported here represent an emerging epidemiologic scenario associated with pediatric Chagas disease. Both cases are suspected oral transmitted parasitic infection in a geographic region of Colombia (Andean region of Antioquia) where no previous oral transmission of Chagas disease had been reported. Their clinical histories and course of disease are presented here to increase physician awareness of the epidemiologic risk factors and clinical manifestations associated with pediatric oral Chagas disease in Antioquia department, Colombia.

A Systematic Survey of Physicians' Insights Into Lipohypertrophy

Background: It is important that physicians be aware of LH. We designed a questionnaire to determine physician awareness, knowledge, and behaviors regarding LH in clinical practice.Participants: A total of 499 questionnaires were completed by physicians in hospitals from 13 cities in Jiangsu Province, China.Key Results: Compared with physicians at tertiary hospitals, significantly fewer physicians at primary hospitals reported awareness of LH and its screening methods. The proportion of resident physicians aware of LH was significantly lower than the proportion of senior physicians. The proportion of physicians who could identify all LH risk factors among the low-GDP group was significantly higher than the high-GDP group. Only 38.7% of doctors could successfully identify all the hazards associated with LH, but more doctors in tertiary hospitals were able to do so compared to those in secondary and primary hospitals. Compared with tertiary hospitals, the proportions of primary and secondary hospitals with management processes were significantly lower. The proportion of doctors who educated patients regarding LH prevention and treatment in primary hospitals was markedly lower than in tertiary hospitals.Conclusions: Overall, physicians have an inadequate understanding of LH, especially in primary hospitals.

Abstract 17057: Tropheryma Whipplei Endocarditis: A Diagnosis In Hindsight

Description of case: We report a case of Tropheryma whipplei endocarditis, a rare cause of blood-culture-negative infective endocarditis (BCNIE). Due to its rarity and lack of availability of diagnostic tests in district hospitals, the diagnosis remains challenging. The objective of this case report is to increase physician awareness of this pathogen. A 61-year-old man presented to the Emergency Department with central chest pain at rest. A 12-lead ECG demonstrated ST- segment depression in V4-V6 leads, and his serial troponin levels were raised. He was commenced on treatment for acute coronary syndrome and transferred to the Coronary Care Unit. An echocardiogram showed a 15mm x 15mm vegetation in the aortic valve with mild aortic regurgitation. His initial microbiology workup, which included two sets of blood cultures (pre-antibiotics), MRSA screen & COVID-19 PCR, was negative. He was transferred to a cardiothoracic centre four days later. Pre-operative CT coronary angiogram showed severe three vessel coronary artery disease. He underwent triple coronary artery by-pass grafts and tissue aortic valve replacement. During early post-op recovery, he had fever episodes and an elevated C-reactive protein of 280 mg/L but normal white cell counts. He was treated with intravenous Tazocin for hospital-acquired pneumonia and discharged on doxycycline. Two weeks post-discharge, he had a positive 16S/18S PCR for Tropheryma whipplei on molecular analysis of the aortic valve. He was treated for Whipples endocarditis with a 4-week course of IV Ceftriaxone, followed by a 12-month course of oral Cotrimoxazole. The patient has reported doing well since the surgery. Discussion: Molecular assay with PCR of the heart valve is the mainstay of diagnosing Whipple’s endocarditis. There have been 5 previously reported cases of Whipple’s endocarditis in the United Kingdom in our knowledge. It is likely under-reported because of a reliance on tissue diagnosis. Preceding intestinal manifestations and arthralgia should raise its clinical suspicion for timely workup. Physician awareness of Whipple’s Endocarditis is paramount in investigating for this pathogen.

A case series of cerebral venous thrombosis as the first manifestation of homocystinuria

Background Cerebral venous thrombosis (CVT) is an important cause of stroke particularly in younger patients and potentially fatal if diagnosis is delayed. The presentation of symptoms is highly variable and consequently the diagnosis and underlying cause is often delayed or overlooked. Homocystinuria, a rare autosomal recessive disorder is an identified risk factor for CVT. Purpose A timely diagnosis and treatment of the underlying cause of CVT could result in improved outcome and prevent further events. This case series describes the clinical course of six adults presented with unprovoked CVT, in whom the diagnosis of underlying homocystinuria was delayed with adverse consequences. We aim to highlight the importance of recognising homocystinuria as an underlying cause of CVT and offer a practical approach to the diagnosis and management. Methods This is a retrospective case series of a cohort of 30 consecutive patients seen in a UK tertiary referral centre. Result Six out of 30 patients presented with CVT prior to homocystinuria diagnosis. The mean and range of age at the time of the first CVT episode was 22.6 (range 11–31) years. The mean ±SD age at diagnosis of homocystinuria as the underlying cause was 26 ± 4.2 years. The time between first CVT and diagnosis of homocystinuria ranged from 1.6 to 11 years resulting in a delay to introduction of effective treatment and, in some cases, a further large vessels thrombotic event. Conclusion Physician awareness of homocystinuria as an underlying cause for an unprovoked CVT will facilitate timely introduction of effective treatment to prevent a further event.

Frequency and Types of Complications Encountered in Patients With Nonconvulsive Status Epilepticus in the Neurological ICU: Impact on Outcome

Objectives. The frequency and types of complications in patients with nonconvulsive status epilepticus (NCSE) who are followed up in the intensive care unit (ICU), and the impact of these complications on outcome are not well-known. We investigated the complications and their effects on prognosis in NCSE patients. Methods. After reviewing the video-EEG monitoring (VEEGM) reports of all the consecutive patients who were followed up in our ICU between 2009 and 2019, we identified two groups of patients: 1-patients with NCSE (study group) and 2-patients who underwent VEEGM for possible NCSE but did not have ictal recordings (no-NCSE group). Electronic health records were reviewed to identify demographic and clinical data, duration of ICU care, medical and surgical complications, pharmacologic treatment, and outcome. These parameters were compared statistically between the groups. We also investigated the parameters affecting prognosis at discharge. Results. Thirty-two patients with NCSE comprised the study group. Infection developed in 84%. More than half were intubated, had tracheostomy or percutaneous endoscopic gastrostomy application. Refractory NCSE was associated with significantly more frequent complications and worse outcome. There was a higher tendency of infections in the study group ( P = .059). Higher organ failure scores and prolonged stay in ICU predicted worse outcome ( P < .05). Conclusion. The frequency of complications in patients with NCSE who are cared for in the ICU is considerable. Most of the complications are similar to the other patients in ICU, except for the higher frequency of infections. Increased physician awareness about modifiable parameters and timely interventions might help improve prognosis.

Features of late-onset systemic lupus erythematosus

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease, characterized by multiorgan involvement, most commonly targeting the skin, joints and kidneys. Late-onset disease occurs in patients over the age of 50 and represents a diagnostic challenge, as it is less frequently encountered and it may exhibit a more unusual clinical and paraclinical picture. The aim of this paper is to highlight two cases of SLE diagnosed in female patients of considerably advanced ages, 81 and 72 years respectively, in order to enhance physician awareness with regard to this distinct disease subtype.

A rare case of bilateral optic neuritis and acute disseminated encephalomyelitis post mycoplasma pneumoniae infection

A case of a 4-year-old boy who developed acute disseminated encephalomyelitis (ADEM) and optic neuritis (ON) following Mycoplasma pneumoniae infection is reported. His symptoms, including excessive sleepiness, frontal headache, bilateral vision impairment, retro-auricular pain and unbalanced gait, were resolved after methylprednisolone pulse therapy, intravenous immunoglobulin (IVIG) and ciprofloxacin. Cerebrospinal fluid myelin basic protein (MBP) and Mycoplasma serology IgM were detected in our patient. This is the first report of a child with ADEM and ON associated with mastoditis caused by M. pneumoniae infection. Combined immunomodulatory therapy (pulse steroids and immunoglobulin) with anti- mycoplasma microbial therapy resulted in favorable visual recovery. Bilateral isolated optic neuritis as the first presenting feature in childhood ADEM is rare and requires proper evaluation and early therapeutic management. This case highlights the need for physician awareness of the association of mycoplasma infection with optic neuritis and ADEM.

Anaphylaxis To Pantoprazole: A Case Report And Prerequisite For Vigilant Prescribing Practises For Proton Pump Inhibitors

Background: Pantoprazole is a Proton Pump Inhibitor, commonly used by clinicians all over the world as gastric acid synthesis inhibitor for a wide variety of gastrointestinal disorders and the efficacy and the safety of the drug is unsurmountable. PPIs are being prescribed nowadays for unapproved indications as well and it is one among the widely used medications in the world. Consequently, adverse events are commonly reported nowadays with proton pump inhibitors and it is essential to improve the physician awareness regarding judicious prescribing practice. Objective: To report a case of anaphylaxis to pantoprazole which occurred in a patient admitted with gastrointestinal complaints. Case summary: Within few minutes of intravenous infusion of pantoprazole, a 75-year-old female developed anaphylaxis. The adverse drug reaction was promptly diagnosed, and patient was resuscitated. Conclusion: It is imperative that clinicians should be aware of this adverse effect that might occur with pantoprazole and hence be more cautious while prescribing the drug, especially in the elderly.

Inappropriate laboratory testing requests: perspectives of clinical laboratory professionals

Introduction: Laboratory examinations constitute a major factor in achieving the correct clinical diagnosis for patients. However, the ordering of unnecessary or inappropriate laboratory testing remains common, with consequent consumption of laboratory resources whether human or material. The present work evaluated the level of satisfaction of laboratory practitioners toward the appropriateness of laboratory tests ordered by physicians. Methods: This cross-sectional study involved a total of 256 medical laboratory practitioners representing different qualifications and health care sectors, who answered several questions concerning their knowledge and attitudes toward inappropriate laboratory testing ordered by physicians. Results: More than 85% of respondents agreed with the definition provided in the survey, which is substantially consistent with prior studies. More than 90% affirmed the associated drain on time and resources. However, discrepant responses were received concerning physician awareness of test availability, and participants reported laboratory staff arguments with physicians due to orders for unnecessary tests. Data showed that unnecessary orders were mainly requested by physicians of less experience. Conclusions: Ultimately, dissatisfaction was manifest among clinical laboratory professionals, and educational interventions are required to moderate request behaviors.