OpenMed/multicare-articles huggingface dataset:
The podocyte: glomerular sentinel at the crossroads of innate and adaptive immunity
Authors: George W Burke 3rd, Alla Mitrofanova, Antonio Fontanella, Gaetano Ciancio, David Roth, Phil Ruiz, Carolyn Abitbol, Jayanthi Chandar, Sandra Merscher, Alessia Fornoni
Journal: Front Immunol (2023)
Keywords: adaptive immunity, immune pathway, innate immunity, kidney, podocyte
MeSH terms: Review

Focal segmental glomerulosclerosis (FSGS) is a common glomerular disorder that manifests clinically with the nephrotic syndrome and has a propensity to recur following kidney transplantation. The pathophysiology and therapies available to treat FSGS currently remain elusive. Since the podocyte appears to be the target of apparent circulating factor(s) that lead to recurrence of proteinuria following kidney transplantation, this article is focused on the podocyte. In the context of kidney transplantation, the performance of pre- and post-reperfusion biopsies, and the establishment of in vitro podocyte liquid biopsies/assays allow for the development of clinically relevant studies of podocyte biology. This has given insight into new pathways, involving novel targets in innate and adaptive immunity, such as SMPDL3b, cGAS-STING, and B7-1. Elegant experimental studies suggest that the successful clinical use of rituximab and abatacept, two immunomodulating agents, in our case series, may be due to direct effects on the podocyte, in addition to, or perhaps distinct from their immunosuppressive functions. Thus, tissue biomarker-directed therapy may provide a rational approach to validate the mechanism of disease and allow for the development of new therapeutics for FSGS. This report highlights recent progress in the field and emphasizes the importance of kidney transplantation and recurrent FSGS (rFSGS) as a platform for the study of primary FSGS.
Case report: Rubella virus-induced cutaneous granulomas in a girl with atypical SCID caused by DCLRE1C gene mutations
Authors: Sihan Deng, Shijia Rao, Alun R Wang, Wei Shi
Journal: Front Genet (2023)
Keywords: dclre1c gene, granulomatous, next-generation sequencing, rubella virus, severe combined immunodeficiency syndrome, whole-exome sequencing
MeSH terms: Case Reports

Here, we report a case of rubella virus-induced granulomatous dermatitis in a young girl with immunodeficiency caused by DCLRE1C gene mutations. The patient was a 6-year-old girl who presented with multiple erythematous plaques on the face and limbs. Biopsies of the lesions revealed tuberculoid necrotizing granulomas. No pathogens could be identified on extensive special stains, tissue cultures, or PCR-based microbiology assays. Metagenomic next-generation sequencing analysis revealed the rubella virus. Underlying atypical severe combined immunodeficiency was recognized based on the patient's history of repetitive infections since birth, low T-cell, B-cell, and NK cell counts, and abnormal immunoglobulins and complements. Whole-exome sequencing revealed the genetic abnormality of the atypical severe combined immunodeficiency (SCID), and compound heterozygous mutations of the DCLRE1C gene were detected. This report highlights the diagnostic values of metagenomic next-generation sequencing in identifying rare pathogens causing cutaneous granulomas in patients with atypical SCID.
Echocardiographic findings in infants with presumed congenital Zika syndrome: Retrospective case series study
Authors: Danielle Di Cavalcanti, Lucas V Alves, Geraldo J Furtado, Cleusa C Santos, Fabiana G Feitosa, Maria C Ribeiro, Paulo Menge, Izabelle M Lira, Joao G Alves
Journal: PLoS One (2017)
MeSH terms: Zika Virus Infection / congenital, Electrocardiography, Humans, Infant, Retrospective Studies, Zika Virus Infection / diagnostic imaging, Zika Virus Infection / physiopathology

Objective:
To report the echocardiographic evaluation of 103 infants with presumed congenital Zika syndrome.
Methods:
An observational retrospective study was performed at Instituto de Medicina Integral Prof. Fernando Figueira (IMIP), Recife, Brazil. 103 infants with presumed congenital Zika syndrome. All infants had microcephaly and head computed tomography findings compatible with congenital Zika syndrome. Zika IgM antibody was detected in cerebrospinal fluid samples of 23 infants. In 80 infants, the test was not performed because it was not available at that time. All infants had negative serology for HIV, syphilis, rubella, cytomegalovirus and toxoplasmosis. A complete transthoracic two-dimensional, M-mode, continuous wave and pulsed wave Doppler and color Doppler echocardiographic (PHILIPS HD11XE or HD15) examination was performed on all infants.
Results:
14/103 (13.5%) echocardiograms were compatible with congenital heart disease: 5 with an ostium secundum atrial septal defect, 8 had a hemodynamically insignificant small apical muscular ventricular septal defect and one infant with dyspnea had a large membranous ventricular septal defect. The echocardiograms considered normal included 45 infants with a persistent foramen ovale and 16 with a minimum patent ductus arteriosus.
Conclusions:
Preliminarily this study suggests that congenital Zika syndrome may be associated with an increase prevalence of congenital heart disease. However the types of defects noted were septal defects, a proportion of which would not be hemodynamically significant.
Vancomycin-Induced Drug Reaction with Eosinophilia and Systemic Symptoms (DRESS) Syndrome Masquerading as Elusive Sepsis
Authors: Sumon Roy, Vinay P Goswamy, Kirolos N Barssoum, Devesh Rai
Journal: Case Reports Immunol (2019)
MeSH terms: Case Reports

We present a unique case of vancomycin-induced drug reaction with eosinophilia and systemic symptoms (DRESS) syndrome masquerading as elusive endocarditis. A 37-year-old female actively using intravenous drugs presented with worsening right upper extremity pain, fever, and chills. Workup revealed methicillin-resistant staphylococcus aureus (MRSA) bacteremia and multiple right-sided septic pulmonary emboli. Echocardiogram was negative for vegetation. Vancomycin was initiated for bacteremia management suspected secondary to right upper extremity abscesses. However, despite resolution of abscesses, fevers persisted, raising suspicion for endocarditis not detected by echocardiogram. On hospital day 25, the patient began showing signs of DRESS syndrome, ultimately manifesting as transaminitis, eosinophilia, and a diffuse, maculopapular rash. Vancomycin was switched to Linezolid and she improved on high dose steroids. The persistent fevers throughout this hospital course were thought to be an elusive endocarditis before DRESS syndrome fully manifested. Although Vancomycin-induced DRESS is uncommon, this case highlights the importance of identifying early signs of significant adverse effects.
Overexpression of the proneural transcription factor ASCL1 in chronic lymphocytic leukemia with a t(12;14)(q23.2;q32.3)
Authors: Theodora Malli, Melanie Rammer, Sabrina Haslinger, Jonathan Burghofer, Sonja Burgstaller, Hans-Christian Boesmueller, Renate Marschon, Wolfgang Kranewitter, Martin Erdel, Sabine Deutschbauer, Gerald Webersinke
Journal: Mol Cytogenet (2018)
Keywords: ascl1 overexpression, chronic lymphocytic leukemia, expression microarray, igh translocation, insm1
MeSH terms: Case Reports

Background:
Translocations of the IGH locus on 14q32.3 are present in about 8% of patients with chronic lymphocytic leukemia (CLL) and contribute to leukemogenesis by deregulating the expression of the IGH-partner genes. Identification of these genes and investigation of the downstream effects of their deregulation can reveal disease-causing mechanisms.
Case presentation:
We report on the molecular characterization of a novel t(12;14)(q23.2;q32.3) in CLL. As a consequence of the rearrangement ASCL1 was brought into proximity of the IGHJ-Cμ enhancer and was highly overexpressed in the aberrant B-cells of the patient, as shown by qPCR and immunohistochemistry. ASCL1 encodes for a transcription factor acting as a master regulator of neurogenesis, is overexpressed in neuroendocrine tumors and a promising therapeutic target in small cell lung cancer (SCLC). Its overexpression has also been recently reported in acute adult T-cell leukemia/lymphoma.To examine possible downstream effects of the ASCL1 upregulation in CLL, we compared the gene expression of sorted CD5+ cells of the translocation patient to that of CD19+ B-cells from seven healthy donors and detected 176 significantly deregulated genes (Fold Change ≥2, FDR p ≤ 0.01). Deregulation of 55 genes in our gene set was concordant with at least two studies comparing gene expression of normal and CLL B-lymphocytes. INSM1, a well-established ASCL1 target in the nervous system and SCLC, was the gene with the strongest upregulation (Fold Change = 209.4, FDR p = 1.37E-4).INSM1 encodes for a transcriptional repressor with extranuclear functions, implicated in neuroendocrine differentiation and overexpressed in the majority of neuroendocrine tumors. It was previously shown to be induced in CLL cells but not in normal B-cells upon treatment with IL-4 and to be overexpressed in CLL cells with unmutated versus mutated IGHV genes. Its role in CLL is still unexplored.
Conclusion:
We identified ASCL1 as a novel IGH-partner gene in CLL. The neural transcription factor was strongly overexpressed in the patient's CLL cells. Microarray gene expression analysis revealed the strong upregulation of INSM1, a prominent ASCL1 target, which was previously shown to be induced in CLL cells upon IL-4 treatment. We propose further investigation of the expression and potential role of INSM1 in CLL.
Leptospirosis Cases Infected with Uncommon Serogroups, Puerto Rico, 2013-2015
Authors: Hector Gorbea, Enid J Garcia-Rivera, Hilda Torres, Olga D Lorenzi, Aidsa Rivera, Renee L Galloway, Tyler M Sharp
Journal: Am J Trop Med Hyg (2018)
MeSH terms: Leptospira, Leptospirosis / epidemiology, Case Reports, Research Support, U.S. Gov't, P.H.S., Adult, Female, Humans, Leptospirosis / diagnosis, Leptospirosis / microbiology, Leptospirosis / pathology, Male, Middle Aged, Puerto Rico / epidemiology, Young Adult

Leptospirosis is an emerging bacterial zoonosis that is endemic but underrecognized throughout the tropics. Through prospective surveillance for acute febrile illness (AFI) among patients who presented to the emergency department of a hospital located in an urban region of Puerto Rico, four patients with laboratory-confirmed leptospirosis were identified. All patients had signs and symptoms of AFI, including fever, headache, and dehydration. Three patients had leukocytosis with thrombocytopenia and were admitted to the hospital. One hospitalized patient presented with jaundice, icteric sclera, and hematuria and developed rhabdomyolysis, whereas another patient with pulmonary edema was admitted to the intensive care unit. Microscopic agglutination titers among the four patients were highest against serogroups Icterohaemorrhagiae (serovar Mankarso), Australis (serovar Bratislava), Bataviae (serovar Bataviae), and Canicola (serovar Canicola). These case reports demonstrate that infection with these apparently uncommon serogroups can result in illness ranging from mild to life-threatening.
Vaginal Angiomyofibroblastoma: A Case Report and Review of Diagnostic Imaging
Authors: Sarah Eckhardt, Renee Rolston, Suzanne Palmer, Begum Ozel
Journal: Case Rep Obstet Gynecol (2018)
MeSH terms: Case Reports

Background:
Angiomyofibroblastoma (AMFB) is a benign mesenchymal tumor most commonly found in the female genital tract of premenopausal women. Although rare, AMFB is an important consideration in the differential diagnosis of vulvar and vaginal masses, as it must be distinguished from aggressive angiomyxoma (AA), a locally recurrent, invasive, and damaging tumor with similar clinical and pathologic findings.
Case:
We describe a patient with a 4 cm vaginal AMFB and the relevant preoperative radiographic imaging findings.
Conclusion:
Preoperative diagnosis of AMFB remains difficult. Common findings on magnetic resonance imaging and transvaginal sonography are described. We conclude that both transvaginal ultrasound and MRI are potentially useful imaging modalities in the preoperative assessment of vulvar and vaginal AMFB, with more data needed to determine superiority of one modality over the other.
Dental Treatments under the General Anesthesia in a Child with Keratitis, Ichthyosis, and Deafness Syndrome
Authors: Sera Sımsek Derelioglu, Yücel Yılmaz, Sultan Keles
Journal: Case Rep Dent (2013)

KID syndrome is a rare genodermatosis characterized by keratitis, ichthyosis, and sensorineural deafness. Although the dermatological, ophthalmologic, and sensorineural defects are emphasized in the literature, oral and dental evaluations are so superficial. In this case report, dental and oral symptoms of a three year and five months old boy with KID syndrome, suffering severe Early Childhood Caries (s-ECC) and dental treatments done under General Anesthesia (GA) were reported.
Kikuchi-fujimoto disease: a case report and literature review
Authors: Vikrant Veer, Albert Lim, Wolfgang Issing
Journal: Case Rep Otolaryngol (2012)
MeSH terms: Case Reports

Case. 38-year-old lady was referred to the ENT clinic with history of right-sided facial pain, otalgia, and odynophagia. Clinical examination revealed enlarged right-sided lymph nodes in the neck. Further radiological scans showed a mass near the carotid and enlarged level V lymph nodes. Lymphoma was initially suspected. Fine-needle aspiration and excision biopsy were undertaken. Histological analysis later suggested Kikuchi-Fujimoto disease, also known as histiocytic necrotising lymphadenitis. Literature Review. Kikuchi-Fujimoto disease (KFD) was described in 1972 as lymphadenitis with focal proliferation of reticular cells accompanied by numerous histiocytes and extensive nuclear debris. KFD, frequently found in East Asian countries, is rare in the UK. No definite aetiology of KFD is known despite autoimmune and infection factors being suggested. The diagnostic hallmark is histological findings from lymph nodes. Malignancy should be excluded. This condition is mainly self-limiting; hence, management is limited to supportive care. Steroid therapy could be used in severe cases. KFD is relatively unknown in the UK and this case report aims to highlight its occurrence in our population.
EML4-NTRK3 Fusion Cervical Sarcoma: A Case Report and Literature Review
Authors: Xiaohe Dang, Tao Xiang, Can Zhao, Hao Tang, Pengfei Cui
Journal: Front Med (Lausanne) (2022)
Keywords: ntrk gene fusion, case report, cervical sarcoma, literature review, survival analysis

The concept of neurotrophic factor tyrosine kinase receptor (NTRK) fusion tumor has emerged in recent years. Moreover, NTRK fusion is unusual in common tumors but can often be identified in rare tumors. The NTRK fusion cervical or uterine tumors are mainly recognized through case reports due to their extremely low incidence. In this study, we reported a new case of EML4-NTRK3 fusion cervical sarcoma to enhance its recognition. To the best of our knowledge, this is the first case from a Chinese institution. We also conducted a literature review, in which a total of 19 cases of NTRK fusion cervical tumors and 4 cases of uterine tumors were retrieved. We summarized the clinicopathological features, treatment methods, and prognosis of these cases. Based on available information, we observed that surgery and complete excision, if possible, are still the primary modes of therapy. In addition, an increasing number of studies have shown that tropomyosin receptor kinases (TRK) inhibitors can improve the prognosis of cancer patients with NTRK gene fusion, which gives a silver lining for patients with metastatic lesions. We found that age and mitotic rate may be associated with recurrence or metastasis by univariate survival analysis. To draw more convincing conclusions, there is a need to establish an international database of rare cases and aggregate these sporadic cases.
Trans Arterial Embolization of Spontaneous Intra-Abdominal Haemorrhage from Omental Lipoma
Authors: P Tirukonda, S Wu, J Brar, K S Ng, S Mirsadraee
Journal: Case Rep Radiol (2018)
MeSH terms: Case Reports

We describe 3 cases of omental lipoma of whom 2 presented with symptomatic haemorrhage. Notably the haemorrhage in the 2 reported cases was from foregut arteries. Thorough knowledge of anatomy and embryology is critical in identifying the source of haemorrhage and differentiating this condition from other common causes of mesenteric haemorrhage. To the best of our knowledge, this is the first case series reporting this uncommon cause for abdominal haemorrhage. The successful management of this condition using superselective embolization is discussed. Clinicians need to exercise diligence and caution in omental lipomas presenting with spontaneous haemorrhage and this notion is exemplified in our reported cases.
Microscopic Polyangiitis following Silicone Exposure from Breast Implantation
Authors: Judy Tan, Fuad Spath, Rakesh Malhotra, Zaher Hamadeh, Anjali Acharya
Journal: Case Rep Nephrol (2014)

We describe a case of a patient who developed microscopic polyangiitis (MPA) in the setting of exposure to silicone after breast implantation. A 57-year-old Hispanic woman was admitted to our hospital with complaints of fever, cough, and hemoptysis. She had undergone silicone breast implantation two years prior to presentation. She was diagnosed as having microscopic polyangiitis (MPA) based on acute progressive renal failure, hematuria, pulmonary hemorrhage, and positivity for myeloperoxidase-anti-neutrophil cytoplasmic antibody (ANCA). A renal biopsy performed showed focal segmental necrotizing and crescentic glomerulonephritis. The patient received high dose steroids, cyclophosphamide, and plasmapheresis with remarkable clinical response. This case report raises the possibility of the development of MPA after silicone exposure from breast implantation.
Pemphigus Vulgaris in Old Patient
Authors: Bassel Tarakji
Journal: Case Rep Dent (2021)
MeSH terms: Case Reports

Pemphigus vulgaris (PV) is a chronic, autoimmune, intraepidermal blistering disease of the skin and mucous membranes. The first clinical manifestation is often the development of intraoral lesions, and later, the lesions involve the other mucous membranes and skin. The etiological factors of this disease still remain unknown, although the presence of autoantibodies is consistent with an autoimmune disease. A 73-year-old man had bullous lesions on gingiva, oral mucosa first, then scalp, trunk, and face. An oral medicine specialist suspects the lesion in differential diagnosis in the first presentation of oral lesions and follows up the patient, and then these bullous lesions presented on the skin. In this article, a patient had received oral prednisolone (80 mg/kg/day) and azathioprine, then tapered oral prednisolone to 40 mg/day, with a reduction of 5 mg/day every three weeks. The patient shows remission of these lesions, and complication of this treatment includes osteoporosis, hyperglycemia, and hypertension.
Case Report: Creeping Growth in Lymphoplasmacyte-Rich Meningioma-A Radiologic Variant
Authors: Jiuhong Li, Xin Zan, Min Feng, Xueyun Deng, Si Zhang, Wenke Liu
Journal: Front Surg (2021)
Keywords: case report, creeping-growth, lymphatic system, lymphoplasmacyte-rich meningioma, mechanism
MeSH terms: Case Reports

Lymphoplasmacyte-rich meningioma (LRM) is a rare histologic subtype of meningioma. Creeping-growth pattern is uncommon in meningioma, and the mechanism is unclear. Here, we report a 44-year-old man presented with extremities weakness for 2 months and incontinence for 2 weeks. Head and neck MRI revealed diffuse creeping-growth nodular meningeal masses with skull base, tentorium, sella area, and C1-6 vertebral plane involvement. An operation was carried out, cervical and lower clivus part of the lesion was resected, but gross total resection could not be achieved due to the widespread lesions. Pathologic examination revealed the diagnosis of LRM. The patient is free from progression clinically 3 months postoperatively. We also conducted a systematic literature review about LRM with creeping-growth pattern. A total of only nine cases (including the present case) of creeping-growth LRMs were included and analyzed in terms of clinical manifestations, radiological features, treatment, and outcome. LRMs show a higher rate (7.5%) of creeping-growth pattern than other types of meningiomas. The average creeping length of all creeping-growth LRMs was 11.4 ± 10.9 cm (range, 3-30 cm). Most cases (66.7%) had obvious peritumoral edema. Total removal rate is low (33.3%), and two of them (22.2%) received biopsy, followed by steroids treatment (or further immunosuppressive drugs therapy) and radiotherapy. The recurrence rate is higher than conventional LRMs (22.2 vs. 11.3%), and one patient (11.1%) died 11 months after treatment. Creeping-growth pattern in LRM may be considered as a general radiologic variant. The recurrence rate is higher compared with LRM with round/swelling pattern. We speculated that the pathogenesis of creeping growth in LRM may be associated with damage of lymphatic systems of the central nervous system.
Sturge-Weber syndrome with intracerebral hemorrhage: a case report
Authors: Masashi Chonan, Yasuhiro Suzuki, Shinya Haryu, Shoji Mashiyama, Teiji Tominaga
Journal: Springerplus (2016)
Keywords: intracerebral hemorrhage, sinus thrombosis, sturge–weber syndrome

Introduction:
Sturge-Weber syndrome (SWS) is a rare congenital disease that affects the brain, skin, and eyes, and is a sporadically occurring neurocutaneous syndrome that affects intracerebral veins, which is associated with venous thrombosis. However, intracranial hemorrhage in patients with SWS is rare. We herein report a rare case of SWS with intracerebral hemorrhage derived from sinus thrombosis.
Case description:
A 62-year-old man suddenly fell into a coma and was admitted to our hospital. His neurological status was assessed as GCS 6 (E1V1M4) with right-sided hemiparesis. At birth, he had a right-sided facial port-wine stain typical of SWS that involved the ophthalmic division of the trigeminal nerve. Laboratory findings showed that he was dehydrated, and his serum D-dimer concentration was increased. Computed tomography revealed left thalamic hemorrhage with acute hydrocephalus and cortical calcification in the right occipital lobe. Magnetic resonance imaging displayed a vascular malformation of the right cerebral hemisphere consistent with SWS. Magnetic resonance venography showed steno-occlusion of the superior sagittal sinus, straight sinus, and left internal cerebral vein (ICV). Emergency ventricular drainage was performed. Seven days after surgery, his consciousness improved to GCS 14 (E4V4M6). Rehydration therapy was performed to prevent sinus thrombosis.
Discussion and evaluation:
His postoperative course was uneventful. Sudden congestion of the left ICV may have caused left thalamic hemorrhage.
Conclusions:
SWS with major sinus occlusion needs to be diagnosed with utmost caution in order to allow for preoperative neurological and radiological assessments.
Giant Penile Lymphedema Caused by Chronic Penile Strangulation with Rubber Band: A Case Report and Review of the Literature
Authors: Shunsuke Hori, Yozo Mitsui, Hidenori Iwai, Toshihiro Tai, Hideyuki Kobayashi, Koichi Nakajima, Koichi Nagao
Journal: Case Rep Urol (2018)
MeSH terms: Case Reports

We treated a 65-year-old Japanese man with a giant penile lymphedema due to chronic penile strangulation with a rubber band. He was referred to our hospital with progressive penile swelling that had developed over a period of 2 years from chronic use of a rubber band placed around the penile base for prevention of urinary incontinence. Under a diagnosis of giant penile lymphedema, we performed resection of abnormal penile skin weighing 4.8 kg, followed by a penile plasty procedure. To the best of our knowledge, this is only the seventh report of such a case worldwide, with the present giant penile lymphedema the most reported.