OpenMed/multicare-articles huggingface dataset:
Myocardial Infarction in a 7-Year-Old Girl with Polyarteritis Nodosa
Authors: Lina Bayazeed, Alaa Felimban, Abdulsalam Alsaiad, Fahd Alsufiani, Jubran Alqanatish
Journal: Case Rep Rheumatol (2022)
MeSH terms: Case Reports

Polyarteritis nodosa (PAN) is a rare systemic vasculitis that affects small to medium-sized arteries. It could affect any organ including the heart. However coronary artery involvements are very rare. We describe a young girl who presented following a histopathological diagnosis of PAN with acute chest pain, high serum troponin, and progressive ischemic changes in the electrocardiogram (ECG). Induction of remission of her disease was done with six-moths Cyclophosphamide infusions and pulse corticosteroids. In addition to anticoagulation and dual antithrombotic therapy, the disease remission was maintained with mycophenolate mofetil which helps in the recovery of coronary disease. Our case illustrates the serious cardiac involvement of PAN in a child that responded to intensive management.
Repeated insulin-like growth factor 1 treatment in a patient with rett syndrome: a single case study
Authors: Giorgio Pini, M Flora Scusa, Alberto Benincasa, Ilaria Bottiglioni, Laura Congiu, Cyrus Vadhatpour, Anna Maria Romanelli, Ilaria Gemo, Chetti Puccetti, Rachel McNamara, Seán O'Leary, Aiden Corvin, Michael Gill, Daniela Tropea
Journal: Front Pediatr (2014)
Keywords: rett syndrome, autonomic functions, insulin-like growth factor 1, seizures, social cognition

Rett syndrome (RTT) is a devastating neurodevelopmental disorder that has no cure. Patients show regression of acquired skills, motor, and speech impairment, cardio-respiratory distress, microcephaly, and stereotyped hand movements. The majority of RTT patients display mutations in the gene that codes for the Methyl-CpG binding protein 2 (MeCP2), which is involved in the development of the central nervous system, especially synaptic and circuit maturation. Thus, agents that promote brain development and synaptic function are good candidates for ameliorating the symptoms of RTT. In particular, insulin-like growth factor 1 (IGF1) and its active peptide (1-3) IGF1 cross the Blood Brain Barrier, and therefore are ideal treatments for RTT Indeed, both (1-3) IGF1 and IGF1 treatment significantly ameliorates RTT symptoms in a mouse model of the disease In a previous study, we established that IGF1 is safe and well tolerated on Rett patients. In this open label clinical case study, we assess the safety and tolerability of IGF1 administration in two cycles of the treatment. Before and after each cycle, we monitored the clinical and blood parameters, autonomic function, and social and cognitive abilities, and we found that IGF1 was well tolerated each time and did not induce any side effect, nor it interfered with the other treatments that the patient was undergoing. We noticed a moderate improvement in the cognitive, social, and autonomic abilities of the patient after each cycle but the benefits were not retained between the two cycles, consistent with the pre-clinical observation that treatments for RTT should be administered through life. We find that repeated IGF1 treatment is safe and well tolerated in Rett patients but observed effects are not retained between cycles. These results have applications to other pathologies considering that IGF1 has been shown to be effective in other disorders of the autism spectrum.
Rituximab for Treatment of Membranoproliferative Glomerulonephritis and C3 Glomerulopathies
Authors: Michael Rudnicki
Journal: Biomed Res Int (2017)
MeSH terms: Complement C3 / genetics, Glomerulonephritis, Membranoproliferative / drug therapy, Inflammation / drug therapy, Rituximab / therapeutic use, Review, Cell Proliferation / drug effects, Glomerular Basement Membrane / drug effects, Glomerular Basement Membrane / pathology, Glomerulonephritis, Membranoproliferative / genetics, Glomerulonephritis, Membranoproliferative / pathology, Humans, Immunoglobulins / genetics, Inflammation / genetics, Inflammation / pathology, Kidney Glomerulus / drug effects, Kidney Glomerulus / pathology, Remission Induction, Complement C3, Immunoglobulins, Rituximab

Membranoproliferative glomerulonephritis (MPGN) is a histological pattern of injury resulting from predominantly subendothelial and mesangial deposition of immunoglobulins or complement factors with subsequent inflammation and proliferation particularly of the glomerular basement membrane. Recent classification of MPGN is based on pathogenesis dividing MPGN into immunoglobulin-associated MPGN and complement-mediated C3 glomerulonephritis (C3GN) and dense deposit disease (DDD). Current guidelines suggest treatment with steroids, cytotoxic agents with or without plasmapheresis only for subjects with progressive disease, that is, nephrotic range proteinuria and decline of renal function. Rituximab, a chimeric B-cell depleting anti-CD20 antibody, has emerged in the last decade as a treatment option for patients with primary glomerular diseases such as minimal change disease, focal-segmental glomerulosclerosis, or idiopathic membranous nephropathy. However, data on the use of rituximab in MPGN, C3GN, and DDD are limited to case reports and retrospective case series. Patients with immunoglobulin-associated and idiopathic MPGN who were treated with rituximab showed partial and complete responses in the majorities of cases. However, rituximab was not effective in few cases of C3GN and DDD. Despite promising results in immunoglobulin-associated and idiopathic MPGN, current evidence on this treatment remains weak, and controlled and prospective data are urgently needed.
Uncovering genomic causes of co-morbidity in epilepsy: gene-driven phenotypic characterization of rare microdeletions
Authors: Dalia Kasperavičiūtė, Claudia B Catarino, Krishna Chinthapalli, Lisa M S Clayton, Maria Thom, Lillian Martinian, Hannah Cohen, Shazia Adalat, Detlef Bockenhauer, Simon A Pope, Nicholas Lench, Martin Koltzenburg, John S Duncan, Peter Hammond, Raoul C M Hennekam, John M Land, Sanjay M Sisodiya
Journal: PLoS One (2011)
MeSH terms: Chromosome Deletion, Chromosome Disorders / genetics, Epilepsy / genetics, Genetic Association Studies, Case Reports, Research Support, Non-U.S. Gov't, Abnormalities, Multiple / genetics, Abnormalities, Multiple / pathology, Adult, Chromosome Disorders / epidemiology, Chromosome Disorders / pathology, Chromosomes, Human, Pair 12 / genetics, Chromosomes, Human, Pair 17 / genetics, Chromosomes, Human, Pair 3 / genetics, Comorbidity, Epilepsy / epidemiology, Epilepsy / pathology, Female, Gene Deletion, Genetic Predisposition to Disease / genetics, Humans, Male

Background:
Patients with epilepsy often suffer from other important conditions. The existence of such co-morbidities is frequently not recognized and their relationship with epilepsy usually remains unexplained.
Methodology/principal findings:
We describe three patients with common, sporadic, non-syndromic epilepsies in whom large genomic microdeletions were found during a study of genetic susceptibility to epilepsy. We performed detailed gene-driven clinical investigations in each patient. Disruption of the function of genes in the deleted regions can explain co-morbidities in these patients.
Conclusions/significance:
Co-morbidities in patients with epilepsy can be part of a genomic abnormality even in the absence of (known) congenital malformations or intellectual disabilities. Gene-driven phenotype examination can also reveal clinically significant unsuspected condition.
Inflammatory Duodenal Polyposis Associated with Primary Immunodeficiency Disease: A Novel Case Report
Authors: Irfan Ali Shera, Sheikh Mudassir Khurshid, Mohd Shafi Bhat
Journal: Case Rep Med (2017)
MeSH terms: Case Reports

Agammaglobulinemia is a rare form of B-cell primary immunodeficiency disease characterized by reduced levels of IgG, IgA, or IgM and recurrent bacterial infections. Agammaglobulinemia is most commonly associated with diffuse nodular lymphoid hyperplasia. Duodenal polyps are a rare entity; however, due to wide use of esophagogastroduodenoscopy, incidental diagnosis of duodenal polyps appears to be increasing. Although inflammatory duodenal polyposis has been reported in the literature, its association with common variable immunodeficiency has not been reported till date to the best of our knowledge. We report a case of a 59-year-old male with chronic symptoms of agammaglobulinemia associated with inflammatory duodenal polyposis.
A Sphingosine-1-Phosphate Lyase Mutation Associated With Congenital Nephrotic Syndrome and Multiple Endocrinopathy
Authors: Avinaash Maharaj, Demetria Theodorou, Indraneel Indi Banerjee, Louise A Metherell, Rathi Prasad, Dean Wallace
Journal: Front Pediatr (2020)
Keywords: sgpl1, congenital nephrotic syndrome, multiple endocrinopathy, primary adrenal insufficiency, sphingosine-1-phosphate lyase
MeSH terms: Case Reports

Background: Loss of function mutations in SGPL1 are associated with Sphingosine-1-phosphate lyase insufficiency syndrome, comprising steroid resistant nephrotic syndrome, and primary adrenal insufficiency (PAI) in the majority of cases. SGPL1 encodes sphingosine-1-phosphate lyase (SGPL1) which is a major modulator of sphingolipid signaling. Case Presentation: A Pakistani male infant presented at 5 months of age with failure to thrive, nephrotic syndrome, primary adrenal insufficiency, hypothyroidism, and hypogonadism. Other systemic manifestations included persistent lymphopenia, ichthyosis, and motor developmental delay. Aged 9 months, he progressed rapidly into end stage oligo-anuric renal failure and subsequently died. Sanger sequencing of the entire coding region of SGPL1 revealed the novel association of a rare homozygous mutation (chr10:72619152, c.511A>G, p.N171D; MAF-1.701e-05) with the condition. Protein expression of the p.N171D mutant was markedly reduced compared to SGPL1 wild type when overexpressed in an SGPL1 knockout cell line, and associated with a severe clinical phenotype. Conclusions: The case further highlights the emerging phenotype of patients with loss-of-function SGPL1 mutations. Whilst nephrotic syndrome is a recognized feature of other disorders of sphingolipid metabolism, sphingosine-1-phosphate lyase insufficiency syndrome is unique amongst the sphingolipidoses in presenting with multiple endocrinopathies. Given the multi-systemic and progressive nature of this form of PAI/ nephrotic syndrome, a genetic diagnosis is crucial for optimal management and appropriate screening for comorbidities in these patients.
Mycetoma in a non-endemic area: a diagnostic challenge
Authors: Boubacar Efared, Layla Tahiri, Marou Soumana Boubacar, Gabrielle Atsam-Ebang, Nawal Hammas, El Fatemi Hinde, Laila Chbani
Journal: BMC Clin Pathol (2017)
Keywords: actinomycetoma, eumycetoma, misdiagnosis, pathology
MeSH terms: Case Reports

Background:
Mycetoma is a chronic granulomatous infectious disease caused by filamentous bacteria or by fungi. The disease is endemic in certain tropical and subtropical areas of the world but can be found elsewhere posing sometimes a diagnostic challenge for clinicians.
Case presentation:
A 65-year- old man presented with a right foot swelling evolving for 25 years. During that time, several diagnosis and treatments have been made without any improvement. The disease spread to bones, and misdiagnosed as Kaposi's sarcoma. Transtibial amputation has been performed, and the histopathological examination revealed finally the diagnosis of eumycotic mycetoma. The patient recovered well after surgery and orthopedic prosthesis was prescribed for him.
Conclusion:
Mycetoma in non endemic areas is usually misdiagnosed and mismanaged leading to unnecessary and inappropriate surgery. Health practitioners should be aware of that fact in order to provide an accurate management.
Periodontal Regenerative Treatment of Intrabony Defects Associated with Palatal Grooves: A Report of Two Cases
Authors: Stefano Corbella, Alice Alberti, Beatrice Zotti, Luca Francetti
Journal: Case Rep Dent (2019)
MeSH terms: Case Reports

A palatal radicular groove (PRG) is a morphological deformity, occurring during tooth development. It is usually located on the palatal aspect of maxillary incisors and frequently associated with periodontal or endodontic-periodontal lesions. Some treatment options were described for such lesions, including primary endodontic treatment and periodontal surgery and extraction with intentional replantation after removal of a PRG and endodontic treatment. The present paper reported two cases of PRG-associated deep intrabony defects, successfully treated with periodontal surgery with enamel matrix derivative (EMD) application and mechanical removal of PRGs, avoiding endodontic treatment or retreatment. The complexity of the diagnostic process was also discussed.
A Rare Case of Juvenile Idiopathic Arthritis following a Ruptured Baker's Cyst in a Toddler
Authors: Deniz Üstüner, Fatma Asaid, Muhammad Pervaiz, Godwin Oligbu
Journal: Case Rep Pediatr (2020)
MeSH terms: Case Reports

A Baker's cyst is usually an incidental finding in adults being investigated for a joint arthropathy, and its rupture preceding the diagnosis of juvenile idiopathic arthritis (JIA) is rare in children. Here, we describe a case of a 4-year-old girl who presented to the Emergency Department with right calf pain, swelling, and no preceding history of trauma. MRI confirmed a ruptured Baker's cyst with inflammatory arthropathy alongside an extensive synovial proliferation throughout the knee joint with large joint effusions and associated soft tissue oedema tracking superiorly and inferiorly along the medial head of gastrocnemius and anteriorly along the tibia. Further investigations revealed bilateral uveitis consistent with a diagnosis of juvenile idiopathic arthritis.
Pure squamous cell carcinoma of the duodenum
Authors: Muharrem Battal, Ozgur Bostancı, Tulay Basak, Kinyas Kartal, Feza Ekiz
Journal: Case Rep Surg (2015)

Primary carcinomas of the small intestine are extremely rare neoplasms. Most of these are adenocarcinomas. Primary squamous cell carcinoma (SCC) of small intestine is exceptionally rare with only occasional case reports in the literature. We report here a surgically treated patient with squamous cell carcinoma arising from duodenal diverticula in the third part of the duodenum.
A Comparison Between Pressure Wire and Microcatheter Measurements for Evaluating the Cerebral Venous Pressure Gradient
Authors: Anat Horev, Dana Lorber, Noa Vardi-Dvash, Yair Zlotnik, Ron Biederko, Gal Ifergane, Ilan Shelef, Vladislav Zvenigorodsky, Amir Horev
Journal: Front Neurol (2021)
Keywords: pseudotumor cerebri, cerebral venous pressure, idiopathic intracranial hypertension, manometric analyses, pressure wire, venous stenosis

Introduction: A pressure gradient of over 8 mm Hg across the stenosis (usually located in the transverse-sigmoid junction) is one of the criteria for cerebral venous stenting in idiopathic intracranial hypertension (IIH) patients. The possible inaccuracy of the traditional microcatheter-based pressure measurements has been discussed in previous studies. In the cardiology field, a dual-sensor pressure wire is routinely used for the evaluation of stenotic lesions. Using a pressure wire for cerebral vasculature was previously discussed in a small case series and case reports. In this study, we compared venous pressure measurements obtained using both a microcatheter and a pressure wire in patients who were candidates for stenting. Methods: A retrospective study was conducted, comparing the two methods of pressure measurements in 26 patients with venous stenosis. Altogether, 120 measurements were performed using both methods. Demographic characteristics, medical history, procedural details, medications, indications for the procedure, and complications were collected from the patient charts. Results: Based on an 8-mm Hg pressure gradient cutoff indication, 19 patients were found eligible to go through unilateral venous stenting based on catheter measurements alone. The wire results corroborated the catheter results in detecting all cases indicated for a stent. This finding implies a sensitivity equal to 100% for the wire measurements. There were no wire-related complications, demonstrating its safety. Conclusions: We conclude that the pressure wire is as safe as the microcatheter and can identify cases requiring intervention. A larger-scale study is needed to assess the measurement accuracy of the pressure wire in brain vasculature.
An Unusual Ovarian Mucinous Borderline Tumor with a Large Solid Component
Authors: Eito Kozawa, Kaiji Inoue, Mitsutake Yano, Masanori Yasuda, Kosei Hasegawa, Junji Tanaka, Tomoaki Ichikawa, Mamoru Niitsu
Journal: Case Rep Radiol (2019)
MeSH terms: Case Reports

Herein, we report magnetic resonance imaging (MRI) findings of a mucinous borderline tumor of the ovary, which we observed as a mainly solid tumor with large solid components in the lower pelvic cavity. The appearance of ovarian epithelial tumors on imaging is often complex. Cystic to solid appearing masses may be observed, and they often resemble epithelial carcinoma. Due to mucinous or hemorrhage components of packed small or microcystic components, MRI depicts slightly high signal intensity on T1-weighted images and low signal intensity on T2-weighted images. Mucinous borderline tumor of the ovary with a large solid component is very rare, but it is clinically important to recognize the possibility of mucinous borderline tumor to avoid unnecessary surgical intervention.
Analytical sameness methodology for the evaluation of structural, physicochemical, and biological characteristics of Armlupeg: A pegfilgrastim biosimilar case study
Authors: Arati Deshmukh, Rishank Goyal, Kalyana Sundaram, Kaustubh Dange, Tejshri Lakhote, Sanjay Niranjan, Jennifer Bharucha, Ashok Mishra, Bhavesh Vats, Sanjay Tiwari
Journal: PLoS One (2023)
MeSH terms: Biosimilar Pharmaceuticals / therapeutic use, Research Support, Non-U.S. Gov't, Filgrastim, Polyethylene Glycols / chemistry, Research Design, pegfilgrastim, Biosimilar Pharmaceuticals, Filgrastim, Polyethylene Glycols

Pegfilgrastim is administered as an adjunct to chemotherapy to reduce the incidence of febrile neutropenia and associated infectious complications. Lupin's Pegfilgrastim is a proposed biosimilar to the U.S.-referenced Neulasta®. Demonstration of biosimilarity requires extensive physicochemical and functional characterization of the biosimilar, and demonstration of analytical similarity to the reference product, in addition to clinical studies. This work is a case study for demonstrating the analytical similarity of Armlupeg (Lupin's Pegfilgrastim) to Neulasta® with respect to structural and physicochemical attributes using several robust, orthogonal, and state-of-the-art techniques including high-end liquid chromatography, mass spectrometry, and spectroscopy techniques; circular dichroism; differential scanning calorimetry; nuclear magnetic resonance; analytical ultracentrifugation; and micro-flow imaging. Functional similarity was demonstrated using an in vitro cell proliferation assay to measure relative potency and surface plasmon resonance to measure receptor binding kinetics. Furthermore, comparative forced-degradation studies were performed to study the degradation of the products under stress conditions. The product attributes were ranked based on a critical quality attributes risk score according to their potential clinical impact. Based on criticality, all analyses were statistically evaluated to conclude analytical similarity. Lupin's Pegfilgrastim was comparable to Neulasta® as demonstrated via structural, functional, and purity analyses. Lupin's Pegfilgrastim complied with the quality and statistical ranges established using Neulasta®. Both products follow the same degradation pathways under stress conditions as observed in the forced-degradation studies. No new impurity or degradation product was observed in Lupin's Pegfilgrastim. These data conclusively demonstrate the analytical similarity of Lupin's Pegfilgrastim and Neulasta®.
Travoprost induced granulomatous anterior uveitis
Authors: Patrick Chiam
Journal: Case Rep Ophthalmol Med (2011)
MeSH terms: Case Reports

Purpose. To report a case of granulomatous anterior uveitis caused by travoprost. Methods. Single observational case report. Results. A 71-year-old who was fit and healthy presented with bilateral granulomatous anterior uveitis 2 months after he was started on travoprost in both eyes. There was no past history of uveitis. Blood test and radiological investigation were unremarkable. Travoprost was stopped. The uveitis resolved on topical steroid treatment. A rechallenge with travoprost was attempted in one eye. The inflammation recurred in this eye only. This subsided with the cessation of travoprost alone without topical steroid. Conclusion. This is the first case report of travoprost causing granulomatous anterior uveitis. The uveitis recurred with a rechallenge. Changing the prostaglandin analogue to another topical treatment may be adequate to cease the inflammation.
Langerhans cell histiocytosis: an illusion of hope
Authors: Vela D Desai, Smita R Priyadarshinni, Beena Varma, Rajeev Sharma
Journal: Int J Clin Pediatr Dent (2013)
Keywords: langerhans histiocytosis, oral manifestations, treatment
MeSH terms: Case Reports

Introduction:
Langerhans cell histiocytosis (LCH) is a rare atypical cellular disorder characterized by clonal proliferation of Langerhans cells leading to myriad clinical presentations and variable outcomes. It usually occurs in children and young adults. It can be present with local and systemic manifestation involving skin, bone, mucosal tissues and internal organs.
Aims and objectives:
The stomatologist plays an important role in management of the disease by keeping in mind the various oral manifestations of the disease.
Case report:
Of a child with disseminated LCH with multiorgan involvement who presented with failure to thrive, osteolytic bony lesions and extensive cutaneous eruptions.
Conclusion:
Early diagnosis and awareness is necessary to treat the patients. How to cite this article: Desai VD, Priyadarshinni SR, Varma B, Sharma R. Langerhans Cell Histiocytosis: An Illusion of Hope. Int J Clin Pediatr Dent 2013;6(1):66-70.