OpenMed/multicare-articles huggingface dataset:
A novel mutation in NCF2 resulting in very-early-onset colitis and juvenile idiopathic arthritis in a patient with chronic granulomatous disease
Authors: Suzan AlKhater
Journal: Allergy Asthma Clin Immunol (2019)
Keywords: chronic granulomatous disease, early-onset colitis, inflammatory bowel disease, juvenile idiopathic arthritis, primary immunodeficiency
MeSH terms: Case Reports

Background:
Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder caused by a defect in the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. The disease primarily presents with recurrent infections, and patients may also present with inflammatory conditions, including noninfectious colitis, and an increased frequency of autoimmunity. We report here a patient with CGD in whom the presentation, unlike the classical presentation of CGD, was predominantly of an inflammatory and autoimmune phenotype.
Case presentation:
A 3-year-old Pakistani female presented with bloody diarrhea since the age of 7 days, followed by the development of perianal abscesses and fistula. There was no other history of recurrent infections. The patient subsequently developed joint pain and stiffness with persistently elevated inflammatory markers and elevated anti-cyclic citrullinate peptide (anti-CCP) antibody titer. She was diagnosed with oligoarticular juvenile idiopathic arthritis and colitis. The diagnosis of CGD was later made and was based on the absence of NADPH oxidase activity in the patient's neutrophils upon phorbol myristate acetate (PMA) stimulation using the dihydrorhodamine-1,2,3 (DHR) flow cytometry test. Targeted next-generation sequencing revealed an unreported deletion mutation in exon 10 as a homozygous loss-of-function variant of the human neutrophil oxidase factor 2 (NCF2) (NCF2: NM_001190789, nucleotide change: c.855_856del:p.T285fs). The gene encodes a protein subunit, p67phox, in the NADPH enzyme complex.
Conclusions:
The case emphasizes the importance of maintaining high clinical suspicion of immunodeficiency and CGD in patients with very-early-onset colitis and autoimmune disorders. This case is important due to its rarity and because it might represent a previously undiscovered mutation, which is possibly more common in the patient's ethnic group. Other mutations in NCF2 have been linked to inflammatory bowel disease and autoimmunity, but without CGD, suggesting similarities in the pathogenesis.
The Early Diagnostic Dilemma in Angioimmunoblastic T Cell Lymphoma with Excessive Plasma Cells Proliferation
Authors: Chunyan Wang, Xia Mao, Songya Liu, Cheng He, Ying Wang, Li Zhu, Yangyang Wang, Yicheng Zhang
Journal: Case Rep Med (2021)
MeSH terms: Case Reports

Background:
Angioimmunoblastic T cell lymphoma (AITL) is an aggressive Epstein-Barr virus-associated T cell lymphoma. Clinical syndromes of AITL are not confined to fever and lymphadenopathy, and patients may initially present with polyclonal plasma cell proliferation, which may obscure the underlying disease of AITL, delaying diagnosis. Case Presentation. Here, we report two AITL patients with excessive plasma cell proliferation in the bone marrow, peripheral blood, and ascites even mimicking plasma cell leukemia. Both of them had poor endings.
Conclusions:
Our report emphasizes the complexity of the clinical manifestations of AITL, which aims to increase the alertness of physicians and improve the rate of early diagnosis. Integrated diagnostic approaches such as histopathology, flow cytometry, cytogenetics, and molecular biology are essential for accurate diagnosis and precise therapy.
Clinical and Genetic Analysis of a Family With Sitosterolemia Caused by a Novel ATP-Binding Cassette Subfamily G Member 5 Compound Heterozygous Mutation
Authors: Ming-Fang Shen, Ya-Nan Hu, Wei-Xiang Chen, Li-Sheng Liao, Min Wu, Qiu-Yan Wu, Jian-Hui Zhang, Yan-Ping Zhang, Jie-Wei Luo, Xin-Fu Lin
Journal: Front Cardiovasc Med (2022)
Keywords: abcg5, bioinformatics analysis, mutation, sitosterolemia, sterolin-1 protein
MeSH terms: Case Reports

Sitosterolemia (OMIM ##210250), also known as phytosterolemia, is a rare autosomal recessive disorder caused by mutations in the ATP-binding cassette subfamily G member 5 (ABCG5) or member 8 (ABCG8) genes. This leads to abnormal functions of the transporter sterolin-1 protein encoded by ABCG5 and sterolin-2 protein encoded by ABCG8, respectively, which can hinder the formation of stable ABCG5/G8 heterodimers, decreasing its ability to transport sterols. As a result, phytosterols in tissue or plasma are significantly increased, leading to early onset atherosclerosis-related diseases and xanthelasma of tendons and skin. In this study, whole exome sequencing was performed on a Chinese Han proband with sitosterolemia to capture the target gene and screen for suspected pathogenic mutations. Sanger sequencing of the family members was performed to verify the relationship between family genetics and phenotypes. The structural and functional changes in the transporter sterolin-1 protein after the responsible mutation were predicted using bioinformatics analysis. A novel compound heterozygous mutation in the ABCG5 gene (NM_022436) was identified in a proband with sitosterolemia, one of which was inherited from the father: c.296T >G (p.M99R), and one from the mother: c.-76 C >T. SIFT, Polyphen2, and Mutation Taster software predicted that p.M99R may be the responsible variant and a novel variant. RNAFold software predicts that c.-76 C >T may affect the transcriptional information or the binding of RNA binding proteins by regulating the structure of RNA, and ultimately affect gene transcription or RNA stability and translation. Swiss model software predicts that the amino acid sequence around p.M99R is highly conserved, and p.M99R leads to instability of the tertiary structure of the ABCG5/ABCG8 heterodimer. GPS 5.0 predicted that M99R affects the phosphorylation of nearby amino acid sequences, and DUET and VarSite software predicted that M99R affects the stability of sterolin-1 and cause disease. The p.M99R and c.-76 C >T mutations led to the formation of unstable heterodimers, which disturbed sterol absorption and excretion in vivo. The compound heterozygous variants c.296 T >G (p.m99r) and C.-76 C >T on exon 3 of ABCG5 in this family may be the molecular genetic basis of sitosterolemia.
Sintilimab and Chidamide for Refractory Transformed Diffuse Large B Cell Lymphoma: A Case Report and A Literature Review
Authors: Chao Chen, Wei Zhang, Daobin Zhou, Yan Zhang
Journal: Front Oncol (2021)
Keywords: hdac inhibitor, anti-pd-1, histologic transformation, refractory, transformed diffuse large b cell lymphoma
MeSH terms: Case Reports

Patients with relapsed/refractory (R/R) transformed diffused large B cell lymphoma (tDLBCL) have a poor prognosis and a low survival rate. In addition, no standard therapy has yet been established for R/R tDLBCL. Herein we presented a single case of a patient with R/R tDLBCL who was successfully treated with sintilimab and chidamide. The patient was a 71-year-old man with pulmonary mucosa-associated lymphoid tissue lymphoma. He did not receive any treatment until tDLBCL was confirmed 2 years later. The tDLBCL was primary refractory to R2-CHOP, R2-MTX, and Gemox regimens. However, the patient achieved sustained complete remission after the combination therapy of sintilimab and chidamide. To the best of our knowledge, this is the first report of sintilimab combined with chidamide for the treatment of R/R tDLBCL, which opens up new therapeutic possibilities for this new combination therapy in future prospective clinical trials.
A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign
Authors: Fabrizia Restaldi, Viola Alesi, Angela Aquilani, Silvia Genovese, Serena Russo, Valentina Coletti, Daniele Pompili, Roberto Falasca, Bruno Dallapiccola, Rossella Capolino, Matteo Luciani, Antonio Novelli
Journal: Mol Cytogenet (2019)
Keywords: 1p221p213 duplication, 8q213q221 deletion, complex chromosomal rearrangements, runx1t1
MeSH terms: Case Reports

Background:
Complex chromosomal rearrangements are constitutive structural aberrations involving three or more breaks. They can be balanced or unbalanced and result in different outcomes, depending on deletion/duplication of genomic material, gene disruption, or position effects.
Case presentation:
We report on a patient presenting with severe anemia, splenomegaly, mild intellectual disability and facial dysmorphisms harboring a 4.3 Mb duplication at 1p22.1p21.3 and a 2.1 Mb deletion at 8q21.3q22.1, involving RUNX1T1 gene. The healthy brother presented the same duplication of chromosome 1p as at 1p22.1p21.3.
Conclusions:
The rearrangement found both these siblings resulted from malsegregation in the proband and recombination in her healthy brother of a balanced paternal complex chromosomal rearrangement. These results confirm RUNX1T1 as a causative gene for intellectual disability and suggest the 1p22.1p21.3 duplication is likely benign.
Hematopoietic Stem Cell Transplant for the Treatment of X-MAID
Authors: Sarah E Henrickson, Isabelle Andre-Schmutz, Chantal Lagresle-Peyrou, Matthew A Deardorff, Harumi Jyonouchi, Benedicte Neven, Nancy Bunin, Jennifer R Heimall
Journal: Front Pediatr (2019)
Keywords: hct, nbs, scid, wes, moesin
MeSH terms: Case Reports

We report outcomes after hematopoietic stem cell transplant for three patients with X-MAID, including 1 patient from the originally described cohort and two brothers with positive TREC newborn screening for SCID who were found to have a T-B-NK+ SCID phenotype attributable to X-linked moesin associated immunodeficiency (X-MAID). A c.511C>T variant in moesin was identified via exome sequencing in the older of these siblings in the setting of low lymphocyte counts and poor proliferative responses consistent with SCID. He received reduced intensity conditioning due to CMV, and was transplanted with a T-depleted haploidentical (maternal) donor. His post-transplant course was complicated by hemolytic anemia, neutropenia, and sepsis. He had poor engraftment, requiring a 2nd transplant. His younger brother presented with the same clinical phenotype and was treated with umbilical cord blood transplant following myeloablative conditioning, has engrafted and is doing well. The third case also presented with severe lymphopenia in infancy, received a matched related bone marrow transplant following myeloablative conditioning, has engrafted and is doing well. These cases represent a novel manifestation of non-radiosensitive X-linked form of T-B-NK+ SCID that is able to be detected by TREC based newborn screening and effectively treated with HCT.
Complicated community-acquired Staphylococcus endocarditis and multiple lung abscesses: case report and review of literature
Authors: Musa A Garbati, Imad M Tleyjeh, Abdullah A Abba
Journal: Case Rep Infect Dis (2011)
MeSH terms: Case Reports

Background. Isolated tricuspid valve endocarditis in the absence of risk factors in the community setting is very rare and can be easily missed in patients with hitherto normal valves. Case Presentation. We present a case of a 49 year old gentleman who presented with generalized body aches, fever, and jaundice and was initial diagnosed as hepatitis. He subsequently developed recurrent episodes of panic attacks and shortness of breath and later multiple skin abscesses. Further investigations excluded pulmonary embolism but revealed multiple abscesses in the body including the lungs. Blood cultures and culture from abscesses grew S. aureus. An initial transthoracic echocardiogram was normal. A transesophageal echocardiogram subsequently confirmed endocarditis on a normal natural tricuspid valve and multiple lung abscesses. He was successfully treated with appropriate antibiotics. Conclusion. We discuss the pathogenesis of this patient's presentation highlight the need for assessment and proper evaluation of patients with unexplained bacteremia.
Concurrent multiple sclerosis and amyotrophic lateral sclerosis: where inflammation and neurodegeneration meet?
Authors: Grace Li, Margaret M Esiri, Olaf Ansorge, Gabriele C DeLuca
Journal: J Neuroinflammation (2012)
MeSH terms: Amyotrophic Lateral Sclerosis / complications, Brain / pathology, Multiple Sclerosis / complications, Case Reports, Research Support, Non-U.S. Gov't, Adult, Amyotrophic Lateral Sclerosis / pathology, Brain / metabolism, Cranial Nerve Diseases / complications, DNA-Binding Proteins / metabolism, Humans, Male, Multiple Sclerosis / pathology, DNA-Binding Proteins

The concurrence of multiple sclerosis (MS) and amyotrophic lateral sclerosis (ALS) is exceedingly rare and the pathological features have not been examined extensively. Here we describe the key pathological features of a 40 year old man with pathologically confirmed concurrent MS and ALS.This is the most pathologically illustrative case of coincident MS and ALS demonstrating inflammatory and neurodegenerative features characteristic of each disease, and is the first to exhibit the presence of TDP-43 inclusions in this clinical entity. The intricate relationship between neuroinflammation and neurodegeneration in these diseases is discussed.
Extramedullary hematopoiesis presented as cytopenia and massive paraspinal masses leading to cord compression in a patient with hereditary persistence of fetal hemoglobin
Authors: Tasleem Katchi, Krishna Kolandaivel, Pallavi Khattar, Taliya Farooq, Humayun Islam, Delong Liu
Journal: Biomark Res (2016)
MeSH terms: Case Reports

Background:
Extramedullary hematopoeisis (EMH) can occur in various physiological and pathologic states. The spleen is the most common site of EMH.
Case presentation:
We report a case with hereditary persistence of fetal hemoglobin with extramedullary hematopoiesis presented as cord compression and cytopenia secondary to multi-paraspinal masses.
Conclusion:
Treatment can be a challenge. Relapse is a possibility.
Short lasting activity-related headaches with sudden onset in children: a case-based reasoning on classification and diagnosis
Authors: Irene Toldo, Debora De Carlo, Rodica Mardari, Luca De Palma, Michela Gatta, Barbara Bolzonella, Margherita Nosadini, Luca Bartolini, Stefano Sartori, Pier Antonio Battistella
Journal: J Headache Pain (2013)
MeSH terms: Arnold-Chiari Malformation / diagnosis, Astrocytoma / diagnosis, Brain Neoplasms / diagnosis, Headache / diagnosis, Case Reports, Arnold-Chiari Malformation / complications, Astrocytoma / complications, Brain Neoplasms / complications, Child, Child, Preschool, Cough / complications, Exercise, Headache / classification, Headache / etiology, Humans, Magnetic Resonance Imaging

Background:
Short lasting headaches related to activity or cough are rare, particularly in childhood, and can be difficult to diagnose, especially in young children who are not able to describe their symptoms. In the literature there are few data on this topic in adults and the paediatric cases reported are even more rare.
Findings:
We present the clinical history of a 7-year-old child and a 3-year-old child both diagnosed as having activity-related headaches, characterized by sudden onset of short lasting (few seconds) attacks, that were triggered by cough or exercise. There were no accompanying symptoms and the neurological examination was normal in both cases. Brain magnetic resonance imaging showed, in the first case, a cerebellar pilocytic astrocytoma and, in the second case, a Chiari 1 malformation. Both cases received an early diagnosis, were surgically treated and had a good prognosis at follow-up.
Conclusions:
When headache has a recent onset, it presents suddenly, and it is triggered by strain, even with normal neurological examination, neuroimaging is mandatory in order to exclude secondary headaches, especially in children.
Augmentation of the Atrophic Mandible with a Block Corticomedullary Graft
Authors: Layla Louise de Amorim Rocha, Matheus Francisco Barros Rodrigues, Rodrigo da Franca Acioly, Daniel do Carmo Carvalho, Cristofe Coelho Lopes da Rocha
Journal: Case Rep Dent (2020)
MeSH terms: Case Reports

The gradual loss of the dental alveolus leads to bone resorption, which may cause atrophy of the maxilla and mandible. One of the most complex procedures in reconstructive surgery is the rehabilitation of patients with atrophic mandibles. Herein, we present a clinical case study of atrophic mandible augmentation with grafts obtained from the iliac crest. The use of reconstruction plates may represent a feasible mechanism for treatment as well as fracture prevention. Mandible augmentation performed by grafting the donor site of the iliac crest showed satisfactory results and resolution of the aesthetic and functional impairments.
Vancomycin- and piperacillin-induced acute interstitial nephritis in a patient with lupus: A case report showcasing rapid decline in renal function
Authors: Oluwadamilola Adisa, Anil Ananthaneni, Bryce Rushing, Nathan Rinehouse, Phani Morisetti
Journal: Clin Nephrol Case Stud (2023)
Keywords: aki, acute interstitial nephritis, piperacillin, vancomycin
MeSH terms: Case Reports

Drug-induced acute interstitial nephritis (AIN) presents as acute kidney injury (AKI) with the use of certain offending drugs. Antibiotics, such as β-lactams, trimethoprim-sulfamethoxazole, fluoroquinolones, and rifampin, account for up to 50% of drug-induced AIN cases. The onset of drug-induced AIN following drug exposure usually ranges from few days to several weeks or months. We present a patient with lupus who had rapid decline in renal function with a single dose of vancomycin and piperacillin-tazobactam (VPT) administration, termed as the "workhorse" regimen at many institutions. In addition, she did not exhibit many clinical and laboratory signs of AIN, making diagnosis challenging. Prompt kidney biopsy and early steroid therapy had a critical role in recovery of the patient's renal function. The median duration for renal impairment in vancomycin-induced AIN is 26 days. Onset of AKI is usually rapid from VPT, within 3 - 5 days of drug exposure. However, the severity of AKI is often low, in contrast to this patient whose AKI reached a stage 3 (AKIN/KDIGO) within 2 days from drug exposure. This study highlights the nephrotoxic potential of piperacillin, especially when used along with vancomycin, concurrent with recent evidence. Within rising antibiotic usage rates, is important to consider AIN in the differential diagnosis of rapidly declining AKI, especially with the combined use of VPT.
Familial Cleidocranial Dysplasia
Authors: Radhika Verma, M K Jindal, Sandhya Maheshwari
Journal: Int J Clin Pediatr Dent (2010)
Keywords: cleidocranial dysplasia, autosomal dominant, delayed eruption, partial anodontia, retained primary, skeletal dysplasia
MeSH terms: Case Reports

Cleidocranial dysplasia or mutational dysostosis or cleidocranial dysostosis is a generalized skeletodental dysplastic disorder, inherited in an autosomal dominant pattern. The expression of this disorder can vary widely in severity, even within the same family. This is a relatively rare disease and has no standard effective treatment option as of yet. Here we present a case report of affected mother and son with classical manifestations of the disease.
Two novel sequence variants in MSH2 gene in a patient who underwent cancer genetic counseling for a very early-onset epithelial ovarian cancer
Authors: Matilde Pensabene, Caterina Condello, Chiara Carlomagno, Sabino De Placido, Raffaella Liccardo, Francesca Duraturo
Journal: Hered Cancer Clin Pract (2016)
Keywords: cancer genetic counseling, hereditary ovarian cancer, lynch syndrome, msh2 germ-line mutation
MeSH terms: Case Reports

Background:
Early-onset or hereditary ovarian cancer is mostly associated with BRCA1 or BRCA2 mutations. Mismatch repair genes sequence alteration frequently cause colorectal cancer, and, in less extent, other tumors, such as ovarian cancer. Subjects with personal and/or family history suggestive for hereditary cancer should be addressed to cancer genetic counseling, aimed to the identification, definition and management of hereditary cancer syndrome, by a multidisciplinary approach.
Case presentation:
A woman with a very early onset epithelial ovarian cancer underwent to cancer genetic counseling and genetic testing. Pedigree analysis suggested a clinical diagnosis of Lynch II syndrome, according to the Amsterdam criteria. The MMRpro model showed a cumulative risk of mutation of 50.3 %, thus, genetic testing was offered to the patient. Two germ-line mutations have been identified in exon 11 of MSH2 gene: c.1706A > T (p.Glu569Val) and c.1711G > T (p.Glu571*). Both DNA alterations were novel mutations not yet described in literature. The first is a missense mutation that is to be considered an unclassified variant; the second is nonsense mutation that created a premature stop codon resulting in a truncated not functioning protein. Both genetic alterations were found in the patients' father DNA.
Conclusions:
The present report finds out two unpublished sequence alterations in exon 11 of the MSH2 gene, one on which can be considered causative of Lynch phenotype. Moreover, it stresses the importance of the multidisciplinary onco-genetic counselling in order to correctly frame the hereditary syndrome, suggest the right genetic test, and offer the most appropriate management of the cancer risk for the patients and her family members.
Necrotizing scleritis after strabismus surgery in Treacher Collins syndrome
Authors: Soveeta Rath, Suma Ganesh, Umang Mathur, Manasvini Sharma
Journal: GMS Ophthalmol Cases (2020)
MeSH terms: Case Reports

Objective: To describe a case of surgically induced scleral necrosis in Treacher Collins syndrome after strabismus surgery. Methods: A 19-year-old girl underwent bilateral squint surgery. Two weeks postoperatively, she presented with subconjunctival abscess in the left eye. The surrounding conjunctiva was markedly inflamed with raised edges. Surgical debridement, microbiological evaluation and medical management were started immediately. Screening for autoimmune and vasculitic conditions did not provide any positive results. Results: On subsequent follow-up, conjunctival retraction and an area of scleral necrosis with thinning was noted. Significant healing with antibiotics and steroids was noted within one week. The integrity of the globe was well maintained and no further procedure for tectonic support was performed. Conclusion: Surgically induced scleral necrosis can be immune-mediated or following surgical site infection. Pre-existing scleral thinning due to neuroectodermal apoptosis in Treacher Collins syndrome remains a possible explanation for the accelerated necrotising scleritis in our case.
Lingual abscess in a psychiatric patient: a case report
Authors: D Kikidis, K Marinakis, J Sengas, A Chrysovergis
Journal: Case Rep Med (2012)
MeSH terms: Case Reports

We present a 46-year-old psychiatric patient presenting with a lingual abscess. This paper covers the epidemiology, clinical features, diagnosis, and differential diagnosis with a view to assisting emergency physicians in the timely recognition and management of this rare but potentially life-threatening condition.