OpenMed/multicare-articles huggingface dataset:
Nutritional Management With a Casein-Based Extensively Hydrolysed Formula in Infants With Clinical Manifestations of Non-IgE-Mediated CMPA Enteropathies and Constipation
Authors: Mikaela Sekkidou, Leilani Muhardi, Constantina Constantinou, Urszula Kudla, Yvan Vandenplas, Nicolaos Nicolaou
Journal: Front Allergy (2021)
Keywords: fpe, fpiap, fpies, casein-based extensively hydrolysed infant formula, constipation, non-ige-mediated cmpa

Background: The majority of mixed-fed infants with non-IgE-mediated cow's milk protein allergy (CMPA) enteropathies are managed with an extensively hydrolysed cow's milk based infant formula (eHF). Given the high variability in peptide distribution of available eHFs, it is important to understand the suitability of a specific product in the management of distinct phenotypes. Objective: To assess the symptom resolution of various phenotypes of clinical manifestations of CMPA enteropathies and constipation managed by a casein-based eHF. Methods: The data of 20 full-term infants (n = 15 with non-IgE-mediated CMPA and n = 5 with constipation) attending a paediatric allergy clinic in Cyprus and managed with a casein-based eHF were retrospectively analysed. Results: Based on the clinical symptoms and history, infants were classified into the following phenotypes: (a) 11/15 (73.3%) FPIAP, (b) 3/15 (20%) FPIES, and (c) 1/15 (6.7%) severe diarrhoea. Overall, 14 (93.3%) patients were successfully managed with the casein-based eHF and 1 (6.7%) required an AAF. This formula was effective in 91% of patients with FPIAP, in 100% with FPIES and with diarrhoea. Three (60%) patients with constipation responded to the eHF. Conclusion: This case-series report supports the efficacy of a particular casein-based eHF for the nutritional management of non-IgE mediated CMPA enteropathies.
Subcutaneous Uptake on [18F]Florbetaben PET/CT: a Case Report of Possible Amyloid-Beta Immune-Reactivity After COVID-19 Vaccination
Authors: Riccardo Laudicella, Irene Andrea Burger, Francesco Panasiti, Costanza Longo, Salvatore Scalisi, Fabio Minutoli, Sergio Baldari, Luigi Maria Edoardo Grimaldi, Pierpaolo Alongi
Journal: SN Compr Clin Med (2021)
Keywords: alzheimer, amyloid, covid-19, florbetaben, pet/ct, vaccination
MeSH terms: Case Reports

Introduction:
Large-scale worldwide COVID-19 vaccination programs are being rapidly deployed, and high-risk patients with comorbidity are now receiving the first doses of the vaccine. Physicians should be, therefore, aware of new pitfalls associated with the current pandemic vaccination program, also in the case of [18F]Florbetaben PET/CT.Case PresentationWe described the first image of [18F]Florbetaben PET/CT in the evaluation of a 70-year-old male with suspicious Alzheimer disease and unclear history of heart disease. We detailed the diagnostic imaging PET/CT workup with different findings.
Conclusion:
In this case, [18F]Florbetaben PET/CT can demonstrate potential beta-amyloid immune-reactivity and deposition associated with the current COVID-19 pandemic vaccination programs.
Prothrombin complex concentrate for rapid reversal of warfarin anticoagulation to allow neuraxial blockade
Authors: Conor Skerritt, Stephen Mannion
Journal: Case Rep Anesthesiol (2014)

The development of Prothrombin Complex Concentrates (PCCs) has led to better outcomes in patients receiving emergency reversal of warfarin. However, most published data describes the use of PCCs in the setting of major bleeding or emergent major surgery, with little information on neuraxial blockade. We describe a case of rapid warfarin reversal using PCC and subsequent surgery under spinal anaesthesia in an 87-year-old lady, for whom general anaesthesia was deemed high risk. Her international normalised ratio (INR) on the morning of surgery was 1.8, precluding neuraxial blockade; however, it was felt that given, the need for imminent surgery, immediate reversal of the warfarin was indicated. We administered a single dose of 23 units/kg PCC and 5 mg vitamin K. Her INR 1 hour following PCC was 1.2, and spinal anesthetic was administered. The patient then underwent excision of melanoma deposits from her leg and groin dissection. There were no complications, the patient recovered satisfactorily, and there were no thrombotic or hemorrhagic events at 30 days postoperatively. This case study demonstrates a novel use of PCCs; in certain patients, PCCs may be safely used for immediate reversal of warfarin to allow for neuraxial blockade, safer anaesthesia, and better outcomes.
Case report: Lingering post-concussive symptoms in a pediatric patient with presumed Ehlers-Danlos syndrome
Authors: Tala Maris Curry, Mitra Esfandiarei, Theresa Currier Thomas, Reena Gogia Rastogi
Journal: Front Pediatr (2022)
Keywords: ehlers-danlos syndrome, case report, concussion, pediatric, post-concussive symptoms
MeSH terms: Case Reports

Background:
Connective tissue disorders such as Ehlers-Danlos Syndrome (EDS) can affect collagen and elastin content and structure, including weakening of tissues and vasculature, thus contributing to multiple systemic manifestations. Prior research has successfully focused on peripheral life-threatening manifestations resulting in increased life expectancy, yet clinical observations have warranted investigation of neurological vulnerability, where little is known. Compromised brain tissues and cerebrovasculature could leave these patients vulnerable to mild traumatic brain injury (TBI), with increased severity and duration of post-concussive symptoms and delayed recovery. Clinical reports in adults indicate that higher severity of symptoms after a mild TBI, such as a concussion, can unmask connective tissues disorders leading toward diagnosis. This clinical case report is an example of a pediatric patient with presumed Ehlers-Danlos syndrome who demonstrates increased vulnerability to mild TBI/concussion.
Patient:
A pediatric female patient presents with unexplained lingering post-concussive symptoms, including trouble sleeping, nausea, frontal headaches, dizziness, visual changes, fatigue, and left-sided weakness more than 6 months post-mild concussion. Patient history of hypermobility, joint derangement, soft tissue mobility, and bruising suggests a potential diagnosis of Ehlers-Danlos syndrome, which may explain symptom severity and length of recovery.
Discussion:
This case is the first documented instance of increased vulnerability to TBI in a pediatric patient with presumed Ehlers-Danlos syndrome. It highlights the need for awareness and prevention of injury in this vulnerable patient population, suggests more targeted therapeutic intervention for recovery, and demonstrates the need for preclinical research evaluating the influence of genetic mutations associated with connective tissue disorders on the central nervous system.
Case Report: Use of Amniotic Membrane for Tectonic Repair of Peripheral Ulcerative Keratitis With Corneal Perforation
Authors: Maryam Eslami, Blanca Benito-Pascual, Saadiah Goolam, Tanya Trinh, Greg Moloney
Journal: Front Med (Lausanne) (2022)
Keywords: amniotic membrane transplantation, corneal perforation, corneal ulceration, peripheral ulcerative keratitis, tectonic graft repair
MeSH terms: Case Reports

Purpose:
To provide a perspective and surgical video demonstration of peripheral corneal ulceration and perforation managed with multilayered amniotic membrane transplantation.
Case reports:
Case 1 describes a 48-year-old female with progressive redness and pain, and an inferonasal corneal thinning and perforation in the left eye from peripheral ulcerative keratitis. She underwent conjunctival recession with amniotic membrane inlay and onlay (Sandwich technique) transplantation. The amniotic membrane integrated well, and her Snellen visual acuity improved from 6/21 preoperatively to 6/9 at 3 months post op. Case 2 describes a 78-year-old male with redness and pain with temporal corneal thinning bilaterally and perforation in the right eye from peripheral ulcerative keratitis. Both eyes underwent similar surgical intervention with smooth integration of the amniotic membrane in the cornea and improvement in the visual acuity. Both patients were also started on systemic immunosuppression in collaboration with the rheumatology team.
Conclusion:
We report successful use of multilayered amniotic membrane transplantation for the treatment of corneal ulceration and perforation. The authors believe the simplicity of the surgical technique, easier access to amniotic membrane tissue, and lower induced post-operative astigmatism all provide advantages over alternative treatment modalities.
Revealing Chronic Granulomatous Disease in a Patient With Williams-Beuren Syndrome Using Whole Exome Sequencing
Authors: Adiratna Mat Ripen, Mei Yee Chiow, Prakash Rao Rama Rao, Saharuddin Bin Mohamad
Journal: Front Immunol (2021)
Keywords: williams-beuren syndrome (wbs), blended phenotypes, chronic granulomatous disease (cgd), copy number variation (cnv), dual molecular diagnosis, whole exome sequencing (wes)
MeSH terms: Exome Sequencing, Granulomatous Disease, Chronic / genetics, NADPH Oxidases / genetics, Williams Syndrome / genetics, Case Reports, Research Support, Non-U.S. Gov't, Child, Chromosome Deletion, DNA Copy Number Variations, Female, Gene Dosage, Genetic Predisposition to Disease, Granulomatous Disease, Chronic / diagnosis, Granulomatous Disease, Chronic / immunology, Granulomatous Disease, Chronic / therapy, Humans, Mutation, Phenotype, Predictive Value of Tests, Williams Syndrome / diagnosis, Williams Syndrome / immunology, Williams Syndrome / therapy, NADPH Oxidases, neutrophil cytosolic factor 1

Blended phenotypes exhibited by a patient may present a challenge to the establishment of diagnosis. In this study, we report a seven-year-old Murut girl with unusual features of Williams-Beuren syndrome (WBS), including recurrent infections and skin abscesses. Considering the possibility of a second genetic disorder, a mutation screening for genes associated with inborn errors of immunity (IEI) was conducted using whole exome sequencing (WES). Analysis of copy number variations (CNVs) from the exome data revealed a 1.53Mb heterozygous deletion on chromosome 7q11.23, corresponding to the known WBS. We also identified a biallelic loss of NCF1, which indicated autosomal recessive chronic granulomatous disease (CGD). Dihydrorhodamine (DHR) flow cytometric assay demonstrated abnormally low neutrophil oxidative burst activity. Coamplification of NCF1 and its pseudogenes identified a GT-deletion (ΔGT) at the start of exon 2 in NCF1 (NM_000265.7: c.75_76delGT: p.Tyr26Hisfs*26). Estimation of NCF1-to-NCF1 pseudogenes ratio using ΔGT and 20-bp gene scans affirmed nil copies of NCF1 in the patient. While the father had a normal ratio of 2:4, the mother had a ratio of 1:5, implicating the carrier of ΔGT-containing NCF1. Discovery of a 7q11.23 deletion involving one NCF1 allele and a ΔGT in the second NCF1 allele explained the coexistence of WBS and CGD in our patient. This study highlights the capability of WES to establish a molecular diagnosis for a case with blended phenotypes, enabling the provision of appropriate prophylactic treatment.
Out-of-Hospital Cardiac Arrest due to Coronary Spasm with Recurrent Ventricular Fibrillation
Authors: Vrijraj Sinhji Rathod, Tanmay Kanitkar, Grigoris Karamasis
Journal: Case Rep Cardiol (2020)
MeSH terms: Case Reports

We present a case of ventricular fibrillation (VF) secondary to ischaemia induced by coronary artery spasm. An 82-year-old man initially presented with an out-of-hospital VF arrest. On return of spontaneous circulation (ROSC), he was found to be in fast atrial fibrillation (AF); an invasive coronary angiogram revealed unobstructed coronary arteries. During his hospital stay, he developed chest pain, with concomitant ST elevation on ECG (electrocardiogram), which spontaneously resolved. A repeat coronary angiography revealed coronary spasm. Later, he had further ST elevation resulting in ventricular fibrillation. It became clear his initial presentation was most likely due to coronary vasospasm rather than a plaque-rupture or ventricular scar-related event, and he was thus successfully treated with multiple vasodilators and an implantable cardiac defibrillator. This case report highlights how conventional imaging modalities may not always lead to a diagnosis.
Conjunctival Pigmentation at the Sclerotomy Site following 23 G Vitrectomy with Silicone Oil Injection
Authors: Nazimul Hussain
Journal: Case Rep Ophthalmol Med (2022)
MeSH terms: Case Reports

54-year-old gentleman undergoing 23 Gauge vitrectomy with silicone oil injection developing conjunctival pigmentation at one of the entry sites of trocar and cannula 1 week postoperative. The conjunctival tissue was biopsied at the time of silicone oil removal and correlated histopathological. Biopsy of the conjunctival tissue showed intracellular and stromal melanin pigments. This report highlights conjunctival pigmentation in suture less entry site and silicone oil as intraocular tamponade than earlier published reports of with or without intraocular gas tamponade.
Arterial Calcification on Wrist Radiographs May Suggest Need for Evaluation of Atherosclerosis in Asymptomatic Individuals
Authors: Lauren E Watchmaker, Jennifer M Watchmaker, Greg P Watchmaker
Journal: Case Rep Radiol (2019)
MeSH terms: Case Reports

Asymptomatic individuals with significant coronary artery disease (CAD) are at risk for unanticipated cardiac events including myocardial infarction (MI). Laboratory studies, stress tests, and coronary artery imaging including coronary artery calcium (CAC) scoring evaluate at-risk individuals. Hand and wrist x-rays demonstrating significant arterial wall calcification may provide an additional means to identify asymptomatic individuals at risk for cardiac events. Here we report a case series of patients without known cardiac disease who demonstrated significant calcium deposits in the radial and/or ulnar arteries in radiographs performed for evaluation of their hand conditions. Each series patient was subsequently found to have calcification on coronary artery imaging and an elevated risk of future cardiac events. Our series suggests that peripheral arterial calcifications observed by radiologists and hand specialists may warrant systemic evaluation for atherosclerosis in other areas of the body.
Case series: two cases of an atypical presentation of oral granular cell tumour
Authors: Emma Cole, Naomi Rahman, Roger Webb
Journal: Case Rep Med (2012)

This paper describes two cases of oral granular cell tumours with an atypical clinical presentation; both are in females aged between 45 and 63 years of age. Granular cell tumours are unusual soft tissue neoplasm of neural or Schwann cell origin. Oral GCTs usually present clinically as pink or yellow small sessile lesions. GCTs are usually benign in nature; however they can present in a malignant form in fewer than 2% of cases. In benign cases treatment is surgical and usually curative with extremely low recurrence rates.
Functional characterization of a novel frameshift mutation in the C-terminus of the Nav1.5 channel underlying a Brugada syndrome with variable expression in a Spanish family
Authors: Pablo Dolz-Gaitón, Mercedes Núñez, Lucía Núñez, Adriana Barana, Irene Amorós, Marcos Matamoros, Marta Pérez-Hernández, Marta González de la Fuente, Miguel Alvarez-López, Rosa Macías-Ruiz, Luis Tercedor-Sánchez, Juan Jiménez-Jáimez, Eva Delpón, Ricardo Caballero, Juan Tamargo
Journal: PLoS One (2013)
MeSH terms: Brugada Syndrome / genetics, Frameshift Mutation / genetics, NAV1.5 Voltage-Gated Sodium Channel / genetics, NAV1.5 Voltage-Gated Sodium Channel / metabolism, Case Reports, Research Support, Non-U.S. Gov't, Biological Transport / drug effects, Female, Humans, Mexiletine / pharmacology, Middle Aged, Phenylbutyrates / pharmacology, NAV1.5 Voltage-Gated Sodium Channel, Phenylbutyrates, Mexiletine, 4-phenylbutyric acid

Introduction:
We functionally analyzed a frameshift mutation in the SCN5A gene encoding cardiac Na(+) channels (Nav1.5) found in a proband with repeated episodes of ventricular fibrillation who presented bradycardia and paroxysmal atrial fibrillation. Seven relatives also carry the mutation and showed a Brugada syndrome with an incomplete and variable expression. The mutation (p.D1816VfsX7) resulted in a severe truncation (201 residues) of the Nav1.5 C-terminus.
Methods and results:
Wild-type (WT) and mutated Nav1.5 channels together with hNavβ1 were expressed in CHO cells and currents were recorded at room temperature using the whole-cell patch-clamp. Expression of p.D1816VfsX7 alone resulted in a marked reduction (≈90%) in peak Na(+) current density compared with WT channels. Peak current density generated by p.D1816VfsX7+WT was ≈50% of that generated by WT channels. p.D1816VfsX7 positively shifted activation and inactivation curves, leading to a significant reduction of the window current. The mutation accelerated current activation and reactivation kinetics and increased the fraction of channels developing slow inactivation with prolonged depolarizations. However, late INa was not modified by the mutation. p.D1816VfsX7 produced a marked reduction of channel trafficking toward the membrane that was not restored by decreasing incubation temperature during cell culture or by incubation with 300 μM mexiletine and 5 mM 4-phenylbutirate.
Conclusion:
Despite a severe truncation of the C-terminus, the resulting mutated channels generate currents, albeit with reduced amplitude and altered biophysical properties, confirming the key role of the C-terminal domain in the expression and function of the cardiac Na(+) channel.
Diagnostic imaging of deep vein thrombosis secondary to osteochondroma formation
Authors: Brian M Moloney, Peter F McAnena, Donald G Courtney, AnnaMarie O' Connell, William Curtin, Peter A McCarthy
Journal: BJR Case Rep (2017)
MeSH terms: Case Reports

Deep vein thrombosis (DVT) is a condition classically associated with blood stasis, hypercoagulability or injury to the vasculature. As blood stasis is usually associated with patient immobility, DVT occurrence in young active patients with no underlying haematological conditions is a rarity. An exostosis, also known as osteochondroma, is a cartilage capped lesion. If solitary, they represent low malignant potential and unless symptomatic, they are rarely excised. A 23-year-old, active male, presented to hospital with pain and swelling in the left lower leg. It was a deep, non-radiating pain, exacerbated by exercise. Wells' criteria score for DVT was 2. An ultrasound was performed which identified thrombosis in the superficial femoral, and popliteal veins. Haematological causes of thrombosis were ruled out. X-ray showed a posterior femoral exostosis. It was determined that compression by the exostosis was the cause of the thrombosis. We present a case of a DVT secondary to osteochondroma formation in a young male. Isolated DVT in this setting is uncommon with fewer than five previously reported cases identified in the literature. We also discuss the current literature and management of this rare entity.
Is Valproate Depressogenic in Patients Remitting from Acute Mania? Case Series
Authors: Kamini Vasudev, Priya Sharma
Journal: Case Rep Psychiatry (2015)

Valproate is an effective antimanic agent and is recommended as a first-line medication in the treatment of acute mania. Current evidence based guidelines recommend that valproate should be given as a loading dose as it produces a rapid antimanic and antipsychotic response with minimal side-effects. However, no clear guidelines are available on the appropriate dosing or serum levels of valproate in the continuation or maintenance phase of bipolar disorder. We present 4 clinical cases to hypothesize that the higher doses of valproate, such as those used in the treatment of acute mania, may cause a depressive switch. So consideration should be given to reducing the dose of valproate if a patient develops depressive symptoms following recovery from the manic episode, as a therapeutic strategy. The cases also indicate that relatively lower doses and serum levels of valproate are effective in the maintenance phase compared to those needed in the acute manic phase of bipolar disorder. This is the first set of case series that questions the depressogenic potential of valproate in patients remitting from an acute manic episode. It highlights that different doses and serum levels of valproate may be therapeutic in different phases of bipolar disorder.
Histologic and Endoscopic Similarity between Nodular Gastric Antral Vascular Ectasia and Gastric Hyperplastic Polyps Potentially Causing Treatment Delays
Authors: Pujitha Kudaravalli, Sheikh A Saleem, Rachana Mandru, Sekou Rawlins
Journal: Case Rep Med (2019)
MeSH terms: Case Reports

Introduction:
Gastric antral vascular ectasia (GAVE) is the underlying cause for 4% of nonvariceal upper GI bleeding. Nodular GAVE and gastric hyperplastic polyps have similar appearance on upper GI endoscopy (EGD) as well as histology, which could delay specific targeted therapy. We herein, through this case, would like to highlight that high clinical suspicion is required to diagnose nodular GAVE.
Case report:
A 70-year-old male with a past medical history significant for coronary artery disease s/p drug-eluting stent placement on Plavix, coronary artery bypass grafting, mechanical aortic valve replacement on warfarin, and iron deficiency anemia on replacement was admitted for the evaluation of fatigue and melena for a month. Physical examination was positive for black stool. The only significant lab was a drop in hemoglobin/hematocrit (Hg/dl/H%) of 10/32 to 4/12.5. Fibrosure was sought which suggested that the patient had an F4 cirrhosis. Endoscopy showed nodules in the gastric antrum which were presumptively treated as GAVE with argon plasma coagulation (APC). Surgical pathology showed reactive gastropathy and gastric polyps. Review of the past histology suggested that because of the overlap in the histopathological features of hyperplastic polyps and GAVE, they were misinterpreted as hyperplastic polyp rather than nodular GAVE.
Discussion:
GAVE can be classified endoscopically as punctate, striped, nodular, or polypoidal form. The light microscopic findings considered specific to GAVE are vascular hyperplasia, mucosal vascular ectasia, intravascular fibrin thrombi, and fibromuscular hyperplasia. However, these findings do not differentiate GAVE from hyperplastic gastric polyp. The first line of treatment for GAVE is endoscopic ablation with Nd:YAG laser or argon plasma coagulation. Response to therapy was seen with a mean of 2.6 treatment sessions. There is not a lot of evidence supportive of pharmacological treatment of GAVE with estrogen-progesterone, tranexamic acid, and thalidomide. Serial endoscopic band ligation as well as detachable snares in the management of nodular GAVE refractory to argon plasma coagulation has also been tried.
Conclusion:
Oftentimes, there is a delay in the diagnosis and treatment of nodular GAVE as the histopathological appearance could be similar to gastric polyps. The diagnosis of GAVE especially nodular GAVE requires a high level of clinical suspicion. Misdiagnosis of nodular GAVE can delay targeted therapy and have fatal outcomes.
Nephrolithiasis Greater Than 2 cm and Splenomegaly
Authors: Maximiliano Lopez Silva, Horacio Sanguinetti, Jorge Aguilar, Adolfo Alvarez Alberó, Norberto Bernardo
Journal: J Endourol Case Rep (2015)
MeSH terms: Case Reports

A 67-year-old male presented with left kidney stones in renal pelvis, 15 mm length. Preoperative CT showed massive splenomegaly. Retrograde intrarenal surgery approach was decided to avoid splenic injury, achieving the absence of residual stones.