scholarly journals NLRC4 GOF Mutations, a Challenging Diagnosis from Neonatal Age to Adulthood

2021 ◽  
Vol 10 (19) ◽  
pp. 4369
Author(s):  
Juliette Bardet ◽  
Noémie Laverdure ◽  
Mathieu Fusaro ◽  
Capucine Picard ◽  
Lorna Garnier ◽  
...  
Keyword(s):  
Wide Spectrum ◽  
Gastrointestinal Symptoms ◽  
Severe Infection ◽  
Final Diagnosis ◽  
Protein Domain ◽  
Recurrent Fever ◽  
Severe Allergic Reaction ◽  
First Case ◽  
Human Immune ◽  
Activation Syndrome

The NLRC4 inflammasome is part of the human immune innate system. Its activation leads to the cleavage of pro-inflammatory cytokines IL-1β and IL-18, promoting inflammation. NLRC4 gain-of-function (GOF) mutations have been associated with early-onset recurrent fever, recurrent macrophagic activation syndrome and enterocolitis. Herein, we describe two new patients with NLRC4 mutations. The first case presented with recurrent fever and vasoplegic syndrome, gut symptoms and urticarial rashes initially misdiagnosed as a severe protein-induced enterocolitis syndrome. The second case had recurrent macrophage activation syndrome (MAS) and shock, suggesting severe infection. We identified two NLRC4 mutations, on exon 4, within the nucleotide-binding protein domain (NBD). After a systematic review of NLRC4 GOF mutations, we highlight the wide spectrum of this disease with a limited genotype–phenotype correlation. Vasoplegic shock was only reported in patients with mutation in the NBD. Diagnosing this new entity combined with gastrointestinal symptoms and vasoplegic shocks is challenging. It mimics severe allergic reaction or sepsis. The plasma IL-18 level and genetic screening are instrumental to make a final diagnosis.

Patients with fever of unknown origin (FUO): diagnosis by nuclear medicine imaging

2001 ◽  
Vol 40 (03) ◽  
pp. 59-70 ◽  
Author(s):  
W. Becker ◽  
J. Meiler
Keyword(s):  
Nuclear Medicine ◽  
Fever Of Unknown Origin ◽  
Tumor Imaging ◽  
White Blood Cells ◽  
Unknown Origin ◽  
Final Diagnosis ◽  
Recurrent Fever ◽  
Nuclear Medicine Imaging

SummaryFever of unknown origin (FUO) in immunocompetent and non neutropenic patients is defined as recurrent fever of 38,3° C or greater, lasting 2-3 weeks or longer, and undiagnosed after 1 week of appropriate evaluation. The underlying diseases of FUO are numerous and infection accounts for only 20-40% of them. The majority of FUO-patients have autoimmunity and collagen vascular disease and neoplasm, which are responsible for about 50-60% of all cases. In this respect FOU in its classical definition is clearly separated from postoperative and neutropenic fever where inflammation and infection are more common. Although methods that use in-vitro or in-vivo labeled white blood cells (WBCs) have a high diagnostic accuracy in the detection and exclusion of granulocytic pathology, they are only of limited value in FUO-patients in establishing the final diagnosis due to the low prevalence of purulent processes in this collective. WBCs are more suited in evaluation of the focus in occult sepsis. Ga-67 citrate is the only commercially available gamma emitter which images acute, chronic, granulomatous and autoimmune inflammation and also various malignant diseases. Therefore Ga-67 citrate is currently considered to be the tracer of choice in the diagnostic work-up of FUO. The number of Ga-67-scans contributing to the final diagnosis was found to be higher outside Germany than it has been reported for labeled WBCs. F-l 8-2’-deoxy-2-fluoro-D-glucose (FDG) has been used extensively for tumor imaging with PET. Inflammatory processes accumulate the tracer by similar mechanisms. First results of FDG imaging demonstrated, that FDG may be superior to other nuclear medicine imaging modalities which may be explained by the preferable tracer kinetics of the small F-l 8-FDG molecule and by a better spatial resolution of coincidence imaging in comparison to a conventional gamma camera.

A Giant Coronary Sinus Aneurysm with Secondary Vena Cava Aneurysms

2016 ◽  
Vol 19 (1) ◽  
pp. 028
Author(s):  
Shengjun Wu ◽  
Peng Teng ◽  
Yiming Ni ◽  
Renyuan Li
Keyword(s):  
Computed Tomography ◽  
Heart Transplantation ◽  
Coronary Sinus ◽  
Unusual Case ◽  
Superior Vena ◽  
Vena Cava ◽  
Final Diagnosis ◽  
Rare Entity ◽  
First Case ◽  
Enhanced Computed Tomography

Coronary sinus aneurysm (CSA) is an extremely rare entity. Herein, we present an unusual case of an 18-year-old symptomatic female patient with a giant CSA. Secondary vena cava aneurysms were also manifested. The final diagnosis was confirmed by enhanced computed tomography (CT) and cardiac catheterization. As far as we know, it is the first case that such a giant CSA coexists with secondary vena cava aneurysms. Considering the complexity of postoperative reconstruction, we believe that heart transplantation may be the optimal way for treatment. The patient received anticoagulant due to the superior vena cava (SVC) thrombosis while waiting for a donor.

scholarly journals 369. Clinical Characteristics of the First 177 Patients Admitted with COVID-19 at a Bronx Community Hospital

2020 ◽  
Vol 7 (Supplement_1) ◽  
pp. S254-S254
Author(s):  
Victoria Bengualid ◽  
Maria Martinez ◽  
Zhenisa Hysenaj ◽  
Debra M Willner ◽  
Judith Berger
Keyword(s):  
Oxygen Saturation ◽  
Clinical Characteristics ◽  
Clinical Manifestations ◽  
Gastrointestinal Symptoms ◽  
Retrospective Chart Review ◽  
Patient Characteristics ◽  
Altered Mental Status ◽  
Channel Blockers ◽  
First Case ◽  
Overall Mortality

Abstract Background The first case of COVID-19 was admitted on March 15th 2020 to our community based hospital in the Bronx, NY. The aim of this study is to describe the clinical characteristics and outcome of these first COVID-19 patients. Patient Characteristics and Outcome Methods IRB approved retrospective chart review study of all COVID-19 patients admitted during March 2020 focusing on patient characteristics, co-morbidities, clinical manifestations and outcome. Results A total of 177 patients were admitted during March 2020: 57% African American 23.1% Hispanic and 16.9% White. 44.9% female, average age 60 years, and 90% had at least one comorbidity. Outcome was available on all patients except for one who was transferred to another institution for ECMO. Overall mortality was 33%. Clinical presentation: 69.4% presented with cough or shortness of breath, 15.8% with diarrhea, nausea, vomiting or abdominal pain, and 14.6% with myalgia, dizziness or altered mental status. 6.2% presented only with fever. However 59.8% of patients presented with fever and respiratory or gastrointestinal symptoms. Mortality The table compares patients who died vs discharged (either home or to a short term facility). Those that were 65 years or older, hypertensive or presented to the ER with an oxygen saturation of 94% or lower, were more likely to die. Ventilated patients: 31.6% of patients were intubated with a mortality rate of 77%. 22% of these patients were intubated in the first 24 hours. Compared to non-intubated patients, there was no difference in BMI, diabetes, hypertension, COPD/Asthma, use of statins, aspirin or calcium channel blockers. Intubated patients older than 64 years had significantly higher mortality rates (p=0.0001). Conclusion This cohort of COVID-19 patients is unique as almost all received Hydroxychloroquine and Azithromycin. Only 9% received steroids and even fewer received an interleukin-6 inhibitor, convalescent plasma or Remdesivir. African Americans and Hispanics accounted for 80% of patients. Greater than 90% received Medicaid. Overall mortality was 33%. The most common presentation was respiratory followed by gastrointestinal symptoms. The overall mortality was 33% but increased to 77% in intubated patients. Age, hypertension, and ER oxygen saturation correlated with mortality. Disclosures All Authors: No reported disclosures

scholarly journals A First Case Report of Orbital Extra-Adrenal Paraganglioma in Cat

2021 ◽  
Vol 8 (5) ◽  
pp. 86
Author(s):  
Leonardo Leonardi ◽  
Raluca Ioana Rizac ◽  
Ilaria Pettinari ◽  
Luca Mechelli ◽  
Carlo De Feo
Keyword(s):  
Parasympathetic Nervous System ◽  
Neuron Specific Enolase ◽  
Final Diagnosis ◽  
Neuroendocrine Cells ◽  
Neuroendocrine Neoplasm ◽  
Glial Fibrillary Acid Protein ◽  
Veterinary Clinic ◽  
First Case ◽  
The Right ◽  
Extra Adrenal Paraganglioma

Paraganglioma is a rare neuroendocrine neoplasm originating from paraganglia and consisting of neuroendocrine cells of the sympathetic and parasympathetic nervous system. Extra-adrenal paraganglioma occurs with a low incidence in both humans and animals. This report presents the first case of paraganglioma in a cat with orbital primary location. An 18-year-old spayed female European domestic shorthair cat of 3.60 kg body weight was evaluated in a private veterinary clinic in Perugia, Italy, for a pronounced exophthalmos of the right eye. The cat underwent surgery for the enucleation of the right eye and of the mass. The biopsy samples of the removed tissue were fixed in 10% buffered neutral formalin for histological and immunohistochemical evaluations. Therefore, specific markers were used for immunohistochemical investigations, such as anti-neuron specific enolase (NSE), anti-synaptophysin, anti-glial fibrillary acid protein, anti-cytokeratin and anti-chromogranin. The results of these investigations allowed establishing the final diagnosis of ocular extra-adrenal paraganglioma of the cat.

scholarly journals Drug Induced Pneumonitis Secondary to Treatment with Paritaprevir/Ritonavir/Ombitasvir and Dasabuvir (VIEKIRA PAK®) for Chronic Hepatitis C: Case Report of an Unexpected Life-Threatening Adverse Reaction

2017 ◽  
Vol 2017 ◽  
pp. 1-5 ◽  
Author(s):  
Shih Yea Sylvia Wu ◽  
Bridget Faire ◽  
Edward Gane
Keyword(s):  
Chronic Hepatitis ◽  
Hepatitis C ◽  
Chronic Hepatitis C ◽  
Kidney Injury ◽  
Complete Recovery ◽  
Final Diagnosis ◽  
Community Acquired Pneumonia ◽  
Drug Induced ◽  
First Case ◽  
Life Threatening

VIEKIRA PAK (ritonavir-boosted paritaprevir/ombitasvir and dasabuvir) is an approved treatment for compensated patients with genotype 1 (GT1) chronic hepatitis C virus (HCV) infection. This oral regimen has minimal adverse effects and is well tolerated. Cure rates are 97% in patients infected with HCV GT 1a and 99% in those with HCV GT 1b. We report the first case of life-threatening allergic pneumonitis associated with VIEKIRA PAK. This unexpected serious adverse event occurred in a 68-year-old Chinese female with genotype 1b chronic hepatitis C and Child-Pugh A cirrhosis. One week into treatment with VIEKIRA PAK without ribavirin, she was admitted to hospital with respiratory distress and acute kidney injury requiring intensive care input. She was initially diagnosed with community acquired pneumonia and improved promptly with intravenous antibiotics and supported care. No bacterial or viral pathogens were cultured. Following complete recovery, she recommenced VIEKIRA PAK but represented 5 days later with more rapidly progressive respiratory failure, requiring intubation and ventilation, inotropic support, and haemodialysis. The final diagnosis was drug induced pneumonitis.

scholarly journals International management platform for children’s interstitial lung disease (chILD-EU)

Thorax ◽  
2017 ◽  
Vol 73 (3) ◽  
pp. 231-239 ◽  
Author(s):  
Matthias Griese ◽  
Elias Seidl ◽  
Meike Hengst ◽  
Simone Reu ◽  
Hans Rock ◽  
...  
Keyword(s):  
Wide Spectrum ◽  
Final Diagnosis ◽  
Interstitial Lung Diseases ◽  
International Management ◽  
Significant Information ◽  
Web Based ◽  
Management Platform ◽  
Long Term Follow Up ◽  
Registration Number

BackgroundChildren’s interstitial lung diseases (chILD) cover many rare entities, frequently not diagnosed or studied in detail. There is a great need for specialised advice and for internationally agreed subclassification of entities collected in a register.Our objective was to implement an international management platform with independent multidisciplinary review of cases at presentation for long-term follow-up and to test if this would allow for more accurate diagnosis. Also, quality and reproducibility of a diagnostic subclassification system were assessed using a collection of 25 complex chILD cases.MethodsA web-based chILD management platform with a registry and biobank was successfully designed and implemented.ResultsOver a 3-year period, 575 patients were included for observation spanning a wide spectrum of chILD. In 346 patients, multidisciplinary reviews were completed by teams at five international sites (Munich 51%, London 12%, Hannover 31%, Ankara 1% and Paris 5%). In 13%, the diagnosis reached by the referring team was not confirmed by peer review. Among these, the diagnosis initially given was wrong (27%), imprecise (50%) or significant information was added (23%).The ability of nine expert clinicians to subcategorise the final diagnosis into the chILD-EU register classification had an overall exact inter-rater agreement of 59% on first assessment and after training, 64%. Only 10% of the ‘wrong’ answers resulted in allocation to an incorrect category. Subcategorisation proved useful but training is needed for optimal implementation.ConclusionsWe have shown that chILD-EU has generated a platform to help the clinical assessment of chILD.Trial registration numberResults, NCT02852928.

Rituximab and Dupilumab Improve Eosinophilic Granulomatosis With Polyangiitis With Multiple Pulmonary Thrombi

2021 ◽  
Author(s):  
Sei Adachi ◽  
Chiyako Oshikata ◽  
Takeshi Kaneko ◽  
Naomi Tsurikisawa
Keyword(s):  
Heart Failure ◽  
Granulomatosis With Polyangiitis ◽  
Disease Onset ◽  
Gastrointestinal Symptoms ◽  
Patient Treatment ◽  
Eosinophilic Granulomatosis With Polyangiitis ◽  
Oxygen Inhalation ◽  
First Case ◽  
Venous Thromboembolic Events ◽  
Eosinophilic Granulomatosis

Abstract BackgroundEosinophilic granulomatosis with polyangiitis (EGPA) is characterized by a necrotizing vasculitis with tissue and peripheral blood eosinophilia affecting small and medium-sized arteries, capillaries, and veins. Venous thromboembolic events have occurred in 19 of 232 (8.2%) patients with EGPA. However, there are only a few reported cases of EGPA complicated by pulmonary embolism or infarction. Case presentationWe report the case of a 43-year-old woman with eosinophilic granulomatosis with polyangiitis patient with acute respiratory and heart failure due to bilateral pulmonary artery thrombosis and left femoral vein thrombosis in addition to cardiac involvement as myocarditis, pericardial effusion, and diastolic dysfunction, gastrointestinal symptoms and peripheral neuropathy 12 years after disease onset. The condition was refractory to treatment with systemic corticosteroids, intravenous cyclophosphamide, and mepolizumab, but the acute cardiac failure associated with the thrombosis, cardiac and gastrointestinal symptoms, and multiple polyneuropathy improved after a switch to rituximab. But her heart failure did not improve sufficiently, she continued to need oxygen inhalation at 1 L/min and asthma exacerbations occurred. We changed the patient’s treatment with mepolizumab to dupilumab. Not only did she have no asthma attacks after switching to dupilumab, but also her vasculitis symptoms improved. Oxygen therapy was discontinued as heart failure improved five months after starting the dupilumab. ConclusionsThis may be the first case report of the successful treatment of pulmonary thromboembolism associated with EGPA by rituximab. In addition, in this patient, treatment with dupilumab was effective not only for the asthma symptoms but also for the symptoms of vasculitis.

Development of Food Allergies with Special Reference to Cow's Milk Allergy

PEDIATRICS ◽  
1985 ◽  
Vol 75 (1) ◽  
pp. 177-181
Author(s):  
Tony Foucard
Keyword(s):  
Wide Spectrum ◽  
Gastrointestinal Symptoms ◽  
Cow’S Milk Allergy ◽  
Food Allergies ◽  
Cow’S Milk ◽  
Gradual Change ◽  
Milk Allergy ◽  
Early Introduction ◽  
Cow's Milk ◽  
Cow's Milk Allergy

Using strict criteria, the incidence of cow's milk sensitivity is probably 1% to 2% during the first 2 years of life. Although there is a wide spectrum of sensitivity symptoms caused by cow's milk, two major groups of infants are discernible. One group consists of infants who react to small amounts of cow's milk within a few minutes up to one hour, usually with gastrointestinal symptoms or urticaria. These infants are often atopic and have positive findings on skin prick tests and radioallergosorbent test (RAST) reactions to cow's milk allergens. The other group consists of children whose reaction to cow's milk occurs one hour or longer after intake of cow's milk or cow's milk-based formula. These reactions are usually not immunoglobulin (Ig)E-mediated and different immune and nonimmune mechanisms probably cause the symptoms. The risk of developing cow's milk sensitivity seems to be influenced by the atopic constitution of the infant and the age at which cow's milk is introduced. Early exposure to cow's milk increases the risk, not only of adverse reactions to this milk but also of developing allergies to other foods. It is suggested that early introduction of cow's milk may enhance the risk of future respiratory allergies. Allergists are still not in agreement as to whether the weaning process should be rapid or should consist of a gradual change from breast milk to cow's milk in order to minimize the risk of cow's milk allergy.

Another Day, Another GI Bug

2020 ◽  
pp. 111-122
Author(s):  
Pinaki Mukherji ◽  
Dana Libov
Keyword(s):  
Emergency Department ◽  
High Risk ◽  
Inborn Error ◽  
Final Diagnosis ◽  
Emergency Department Visits ◽  
Inborn Error Of Metabolism ◽  
First Case ◽  
Non Accidental Trauma ◽  
Abnormal Radiograph ◽  
Electrolyte Abnormalities

This chapter presents 3 cases of vomiting in children and explores less common diagnoses not to be missed by the astute clinician. The first case of a child with recurrent progressive vomiting has unusual lab abnormalities which leads to the final diagnosis of an inborn error of metabolism. The second case presents a child with several Emergency Department visits for vomiting and a skin finding leads to a final diagnosis of non-accidental trauma. The final case reviews a vomiting child with electrolyte abnormalities and an abnormal radiograph, leading to a diagnosis of malrotation with volvulus. Each case gives the clinician key pearls to distinguish these high risk cases from everyday gastroenteritis.

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