OpenMed/multicare-articles huggingface dataset:
Very Early-Onset Inflammatory Bowel Disease (VEO-IBD) Presenting with Recurrent Leukocytoclastic Vasculitis Preceded by Streptococcal Pharyngitis
Authors: Ashley Fonseca, Julee Sunny, Lina M Felipez
Journal: Case Rep Pediatr (2021)
MeSH terms: Case Reports

Inflammatory bowel disease (IBD) that presents in children <6 years of age is known as very early-onset IBD (VEO-IBD). Extraintestinal manifestations in IBD, such as erythema nodosum (EN), pyoderma gangrenosum (PG), and, less likely, leukocytoclastic vasculitis (LV), are more commonly present in Crohn's disease. Association between LV and ulcerative colitis (UC) is not commonly seen. We report a case of a 6-year-old female with a VEO-IBD UC phenotype presenting with multiple episodes of leukocytoclastic vasculitis, each preceded by streptococcal pharyngitis. Prior to the diagnosis of VEO-IBD, a skin biopsy was obtained and had shown leukocytoclastic vasculitis with a negative IgA stain. Initial laboratory results were remarkable for leukocytosis and increased anti-strep O and anti-DNase B titers. Gastrointestinal panel PCR demonstrated Clostridium difficile toxin A/B. Treatment for LV consisted of methylprednisolone IV 20 mg for four days with a weaning schedule of prednisolone for two weeks and naproxen 250 mg BID for three days. Clostridium difficile was treated with metronidazole 250 mg TID for ten days. She remained stable for three years until she presented with continuous bloody stools, newly onset chest pain, and shortness of breath. Computed tomography angiogram (CTA) was normal. Stool calprotectin was elevated at 658 mcg/gm. Abdominal magnetic resonance enterography (MRE), esophagogastroduodenoscopy, and colonoscopy confirmed a VEO-IBD ulcerative colitis phenotype. She was started on infliximab 10 mg/kg every four weeks after infliximab titers, and antibodies were obtained. Currently, the patient remains on clinical and biochemical remission, with no recent LV episodes or recurrence of streptococcal pharyngitis. Our patient is unique as no case report has been published with multiple episodes of leukocytoclastic vasculitis in association with a VEO-IBD UC phenotype.
Late recurrence of breast carcinoma metastasis to the hypopharynx: a case report
Authors: Chisako Izumi, Kiyoshi Misawa, Shiori Endo, Kenichi Sugiyama, Daiki Mochizuki, Atsushi Imai, Masato Mima, Yuki Misawa, Takashi Yamatodani, Hiroyuki Mineta
Journal: Springerplus (2016)
Keywords: aromatase inhibitor, breast carcinoma metastasis, e-cadherin, hypopharynx, vegfr2

Background:
We report a rare case of a patient with a hypopharyngeal metastasis from breast cancer.
Case presentation:
Isolated breast cancer metastasis to the hypopharynx has been previously reported in only one autopsy case. Herein, we report a 56-year-old woman with metastases to the hypopharynx almost 24 years after receiving a mastectomy and chemotherapy to treat primary breast carcinoma. We believe that she is the first patient to be treated for metastatic breast carcinoma to the hypopharynx. The hypopharyngeal tumor reduced in size after administration of an oral aromatase inhibitor. The patient has remained alive with a preserved larynx for three years.
Conclusions:
Breast cancer metastasis to the hypopharynx is an extremely rare event.
Conservative Management of a Scar Abscess formed in a Cesarean-induced Isthmocele
Authors: Meriem Boukrid, Jean Dubuisson
Journal: Front Surg (2016)
Keywords: cesarean-induced isthmocele, scar abscess, uterine discharge after cesarean
MeSH terms: Case Reports

Background:
Abscesses located in the cesarean-section (CS) induced isthmoceles are rarely encountered and are usually treated surgically, mostly by hysterectomy.
Case description:
We here report the case of a 40-year-old primiparous woman presenting a symptomatic abscess in the isthmocele 10 years after a CS. She was treated by antibiotics and was closely monitored by clinical evaluation, ultrasonography, and pelvic magnetic resonance imaging. This treatment led to complete resolution of symptoms and a disappearance of the abscess at imagery.
Conclusion:
Our report shows that a conservative medical management of isthmocele abscesses can be an effective approach in women wishing to preserve their uterus.
Bilateral Total Hip and Unilateral Knee Arthroplasties in a Young Adult with Arthropathy-Associated Intestinal Epithelial Dysplasia (Tufting Enteropathy)
Authors: Colin Ng, Kurt Magri, Ryan Giordmaina, Duncan Whitwell
Journal: Case Rep Orthop (2018)
MeSH terms: Case Reports

Intestinal epithelial dysplasia (tufting enteropathy) is an uncommon congenital disorder. Furthermore, its association with chronic inflammatory arthropathy is rarely documented in the literature. Low prevalence rates of 1 in 100,000 live births in Western Europe exist, with higher rates in North Africa and Middle Eastern countries. Malta, being a small Mediterranean island at the cusp between Europe and North Africa, has an anecdotal sevenfold prevalence rate. This is the first documented case report of a patient with both intestinal epithelial dysplasia and severe bilateral hip and knee arthropathy that required simultaneous bilateral hip followed by, after a short interval, unilateral knee arthroplasties. Our aim is to highlight the rapid progression of associated arthropathy as well as the successful treatment with joint arthroplasties in such extreme cases. Surgical treatment may be a necessity despite best medical efforts to halt the disease.
Abdominal symptoms as initial manifestation of COVID-19: a case series
Authors: Lucas Tadashi Wada Amaral, Vanessa Mizubuti Brito, Gabriel Laverdi Beraldo, Eduardo Kaiser Ururahy Nunes Fonseca, Patrícia Yokoo, Aley Talans, Marcelo Oranges Filho, Rodrigo Caruso Chate, Ronaldo Hueb Baroni, Gilberto Szarf
Journal: Einstein (Sao Paulo) (2020)
MeSH terms: Abdominal Pain / diagnostic imaging, Coronavirus / isolation & purification, Coronavirus Infections / diagnosis, Lung / diagnostic imaging, Pneumonia, Viral / diagnosis, Tomography, X-Ray Computed / methods, Case Reports, Abdominal Pain / etiology, Betacoronavirus, COVID-19, COVID-19 Testing, Clinical Laboratory Techniques, Coronavirus / genetics, Humans, Pandemics, Real-Time Polymerase Chain Reaction, SARS-CoV-2

The COVID-19 became a pandemic in early 2020. It was found, at first, that the main manifestations of this new virus occur through respiratory and constitutional symptoms. Therefore, chest tomography was elected as the best imaging test to assess the extent of pulmonary involvement and as a good prognostic predictor for the disease. However, as new studies were produced, the gastrointestinal involvement of COVID-19 becomes more evident, with reports from patients who manifested mainly or only gastrointestinal symptoms in the course of the disease. Thus, in some cases, the initial investigation is carried out at the emergency department with an abdominal computed tomography. We report a case series of ten patients who came to the emergency department of our institution with a chief gastrointestinal complaint, and were initially submitted to an abdominal computed tomography as the first investigation. Although most of the patients did not have significant changes in the abdominal images, most reported patients had pulmonary findings visualized at the lung bases, which were later designated as typical COVID-19 pulmonary findings on chest computed tomography. Only one patient had atypical COVID-19 lung changes on chest computed tomography. All patients had a positive real-time polymerase chain reaction for COVID-19. It is imperative to alert radiologists, especially abdominal radiologists, with the possibility of COVID-19 isolated gastrointestinal symptoms. Besides, it must become a habit to radiologists to assess the pulmonary basis on abdominal scans, a site commonly affected by the new coronavirus.
Symptomatic squamous papilloma of the uvula: report of a case and review of the literature
Authors: Lindsay A Goodstein, Andleeb Khan, Joel Pinczewski, Vyvy N Young
Journal: Case Rep Otolaryngol (2012)
MeSH terms: Case Reports

Background. Oral squamous papillomas are benign pedunculated masses that grow most commonly on the palate. These benign lesions rarely cause symptoms. Methods. Here we present the case of a large, elongated squamous papilloma of the uvula causing dysphagia. We also review pertinent literature related to these lesions. Results. This patient underwent surgical excision of her atypically symptomatic oral lesion, with complete resolution of symptoms. Conclusion. Oral squamous papillomas are benign lesions which are usually asymptomatic. Dysphagia due to a squamous papilloma of the uvula has only been reported once in the literature previously. The development of symptoms such as dysphagia due to squamous papilloma of the uvula is uncommon; however this may be more likely in the presence of particularly large lesions.
Management of a Difficult-to-Treat Diabetic Foot Wound Complicated by Osteomyelitis: A Case Study
Authors: Maram Alkhatieb, Hatan Mortada, Hattan Aljaaly
Journal: Case Rep Surg (2020)
MeSH terms: Case Reports

Introduction:
Diabetic ulcers are a major health issue worldwide, causing significant economic burdens and affecting both the patient and the society as a whole. Predisposing factors in diabetic patients, known as the pathogenic triad, comprise trauma, ischemia, and neuropathy. Regardless of the cause, correct diagnosis and prompt treatment are essential in the management of leg ulcers. Case History. We report a case of a 51-year-old male patient, with a known history of type 2 diabetes mellitus who presented to our hospital with a history of two ulcers, one that he was mainly complaining of, which was actively infected and located at the posterior part of the distal left leg, and the second, dry ulcer caused by unrecognized trauma, located on the heel of the same limb. Magnetic resonance imaging showed osteomyelitis and degenerative changes in the calcaneonavicular and tarsal joints. The patient underwent multiple sessions of excisional debridement. He was started on negative pressure wound therapy with some improvements. However, after skin graft failure, Nanoflex powder was used, leading to complete wound closure within one month of treatment.
Conclusion:
A multidisciplinary holistic approach must be used when treating diabetic foot ulcers. Different modalities and sessions of debridement should be performed after optimizing the general condition of the patient.
Successful Initiation of Dialysis with a 20-Year-Old Buried Peritoneal Dialysis Catheter: Case Report and Literature Review
Authors: Ankur Gupta, Susan Lavoie, Brian Blew, Mohan Biyani, Brendan B McCormick
Journal: Case Rep Nephrol (2019)
MeSH terms: Case Reports

Buried peritoneal dialysis (PD) catheters are typically inserted several weeks or months before the anticipated need for dialysis. Occasionally, renal function unexpectedly stabilizes after the surgery, and a patient may go years before the catheter is needed. We report a case of successful initiation of PD with a twenty-year-old buried catheter. We outline the steps needed to optimize the catheter function and review the benefits of the buried PD catheter.
Relative bradycardia presented as a clinical feature of Brucella melitensis infection: A case report
Authors: Kai Huang, Xuxia Yu, Yushan Yu, Yin Cen, Jie Shu, Naibin Yang, Jinguo Chu
Journal: Front Med (Lausanne) (2022)
Keywords: brucella melitensis, brucellosis, clinical feature, heart rate and body temperature relationship, relative bradycardia
MeSH terms: Case Reports

Brucellosis, caused by Brucella species, is an infectious disease transmitted through contact with infected animals or their secretions. The clinical disease is characterized by fever and headache. Relative bradycardia is an inappropriate response of heart rate to body temperature, in which the heart rate does not increase proportionally despite a high fever. In this report, we document one case of Brucella melitensis infection demonstrating relative bradycardia. To our knowledge, this is the first report of relative bradycardia in a patient with brucellosis.
Herlyn-Werner-Wunderlich Syndrome: A Rare Cause of Pelvic Pain and High CA 19-9 Levels in an Adolescent Girl
Authors: Emel Unal, Hikmet Gulsah Tanyildiz, Murat Sonmezer, Hatice Gul Erkol, Suat Fitoz
Journal: APSP J Case Rep (2016)
Keywords: ca 19-9, herlyn-werner-wunderlich syndrome, mullerian duct anomaly, renal agenesis
MeSH terms: Case Reports

Herlyn-Werner-Wunderlich (HWW) syndrome is a rare developmental anomaly that includes uterus didelphys with obstructed hemivagina and ipsilateral renal agenesis. A 13-year-old girl presented with chronic abdominal pain. Magnetic resonance imaging revealed uterus didelphys, hematometrocolpos and renal agenesis on the right side with imperforate hymen. Subsequently the patient was found to have Mullerian duct anomalies. CA 19-9 level was high. At laparoscopy combined with vaginoscopy hematocolpos was drained following which she improved clinically and CA 19-9 level returned to normal.
Case report: Transcatheter aortic valve replacement in a large bicuspid anatomy using the XL-Myval 32 mm
Authors: Ahmed Elkoumy, Christian J Terkelsen, Mahmoud Abdelshafy, Julia Ellert-Gregersen, Hesham Elzomor, Troels Thim, Patrick W Serruys, Osama Soliman, Henrik Nissen
Journal: Front Cardiovasc Med (2022)
Keywords: bav, myval-xl, bicuspid aortic valve, large annulus, transcatheter aortic valve replacement
MeSH terms: Case Reports

Transcatheter aortic valve replacement (TAVR) is a recommended intervention for selected population with severe aortic stenosis (AS). Bicuspid aortic valve (BAV) anatomy has been categorized as an unfavorable anatomy for TAVR due to multiple considerations as exclusion from randomized trials in addition to the challenging and unpredictable anatomy. The anatomical constraints of BAV include the large anatomy of the annulus, sinus of Valsalva, and aorta (aortopathy), in addition to significant calcifications of the device landing zone. Most commercial transcatheter heart valves (THV) have upper dimension limits of the annulus and area in which the device can be implanted safely without significant oversizing. Myval-XL THVs (Meril Life Sciences Pvt. Ltd., India) are balloon-expandable valves (BEV) that have been developed with two new sizes, 30.5 and 32 mm, aiming to treat patients with large annulus dimensions and that exceed the upper limit of an ordinary device's sizing matrix. This case series report describes TAVR using the XL-Myval 32 mm THV in three European patients with symptomatic severe bicuspid aortic stenosis with significant calcifications and large annular dimensions exceeding the limits of the other THVs.
Enchondroma of the scaphoid: a case report
Authors: Sbai Mohamed Ali, Benzarti Sofien, Sbei Feten, Bouzaidi Khaled, Maalla Riadh
Journal: Pan Afr Med J (2015)
Keywords: enchondroma, bone grafting, carpal bone, pathological fracture, scaphoid, wrist
MeSH terms: Bone Neoplasms / diagnosis, Chondroma / diagnosis, Chronic Pain / etiology, Scaphoid Bone / pathology, Case Reports, Adult, Bone Neoplasms / pathology, Chondroma / pathology, Humans, Male, Wrist Joint / pathology

Enchondroma represents a common bone tumor of the hand. The scaphoid is a rare location. We report the case of a scaphoid enchondroma presenting as chronic wrist pain following a relatively minor trauma. The diagnosis was suggested by radiological study and then confirmed by histological study after biopsy. Enucleation and vascularized bone graft with osteosynthesis provided good results. The clinical, radiological and therapeutic aspects of this rare condition are discussed.
Foreign Bodies in the Oesophagus: The Experience of the Buenos Aires Paediatric ORL Clinic
Authors: Alberto Chinski, Francesca Foltran, Dario Gregori, Simonetta Ballali, Desiderio Passali, Luisa Bellussi
Journal: Int J Pediatr (2010)

The ingestion of foreign bodies causing esophageal injuries is a common event, mostly in children's population. The aim of the present paper is to present foreign body (FB) ingestion cases observed in a five-year period at the Children's Hospital Gutierrez, Buenos Aires, Argentina and to compare the main findings with data coming from other well-known case series, already published in scientific literature. A prospective study on 320 of esophageal foreign body was carried out , with regard to age and sex distributions, type, dimensions and consistency, location, clinical presentation, removal and complications. In the majority of cases injuries happened while children were playing and in 85.3% adults were present. Children most frequently ingested coins (83.8% cases). Removal was performed in all cases under general anaesthesia, in 34 by esophageal forceps and in 286 cases by Magill hypopharyngeal forceps. Just one case showed complications, presenting esophageal perforation. The final results of this study show that injuries usually happen under adults' supervision and highlight that FBs involved in the incident belong to classes of objects not conceived for children's use and not suitable for their age. Therefore, educational strategies regarding safe behaviours have a key role in FB injuries prevention.
Case report: A reciprocal translocation-free and pathogenic DUOX2 mutation-free embryo selected by complicated preimplantation genetic testing resulted in a healthy live birth
Authors: Biwei Shi, Yinghui Ye
Journal: Front Genet (2023)
Keywords: duox2, snp-based linkage analysis, live birth, next-generation sequencing, preimplantation genetic testing, reciprocal translocation
MeSH terms: Case Reports

Preimplantation genetic testing (PGT) is an effective approach to improve clinical outcomes and prevent transmission of genetic imbalances by selecting embryos free of disease-causing genes and chromosome abnormalities. In this study, PGT was performed for a challenging case in which a couple simultaneously carried a maternal subchromosomal reciprocal translocation (RecT) revealed by fluorescence in situ hybridization involving the chromosome X (ChrX) and heterozygous mutations in dual oxidase 2 (DUOX2). Carriers of RecT are at increased risk for infertility, recurrent miscarriages, or having affected children due to the unbalanced gametes produced. DUOX2 mutation results in congenital hypothyroidism. Pedigree haplotypes for DUOX2 was constructed after the mutations were verified by Sanger sequencing. Since male carriers of X-autosome translocations may exhibit infertility or other abnormalities, pedigree haplotype for chromosomal translocation was also constructed to identify embryo with RecT. Three blastocysts were obtained by in vitro fertilization and underwent trophectoderm biopsy, whole genomic amplification, and next-generation sequencing (NGS). A blastocyst lacking copy number variants and RecT but carrying the paternal gene mutation in DUOX2, c.2654G>T (p.R885L) was used for embryo transfer, resulting in a healthy female infant whose genetic properties were confirmed by amniocentesis. Cases containing RecT and single gene disorder are rare. And the situation is more complicated when the subchromosomal RecT involving ChrX cannot be identified with routine karyotype analysis. This case report contributes significantly to the literature and the results have shown that the NGS-based PGT strategy may be broadly useful for complex pedigrees.
Case series: Diffusion weighted MRI appearance in prostatic abscess
Authors: Paramjeet Singh, Mukesh K Yadav, Shrawan K Singh, Anupam Lal, Niranjan Khandelwal
Journal: Indian J Radiol Imaging (2011)
Keywords: apparent diffusion coefficient, diffusion-weighted imaging, magnetic resonance imaging, prostatic abscess, transrectal ultrasound
MeSH terms: Case Reports

DIFFUSION: weighted MRI (DWI) is a novel technique that analyzes the diffusion of water molecules in vivo. DWI has been used extensively in the central nervous system. Its use in body imaging is on the rise. In the prostate, it has been used in the evaluation of prostatic carcinoma. We present DWI findings in two patients of prostatic abscess.
Simultaneous bilateral testicular metastases from renal clear cell carcinoma: A case report and review of the literature
Authors: Shingo Moriyama, Hideki Takeshita, Akiko Adachi, Yoshiaki Arai, Saori Higuchi, Takuo Tokairin, Koji Chiba, Koji Nakagawa, Akira Noro
Journal: Oncol Lett (2014)
Keywords: metastasis, renal cell carcinoma, testicular neoplasm

Metastasis from renal cell carcinoma (RCC) to the testis is rare. This case report presented an extremely rare case of simultaneous bilateral testicular metastases from RCC in a 65-year-old man who had experienced indolent scrotal enlargement over a period of several months. Scrotal ultrasonography showed 4.0- and 2.0-cm-sized masses in the left and right testes, respectively. Contrast-enhanced computed tomography identified multiple tumors in the kidneys, the pancreas and the left adrenal gland. Left orchiectomy and pathological examination were performed and indicated testicular metastasis from clear cell RCC. The patient underwent complete surgical resection of all residual lesions. Postoperative follow-up examination without adjuvant therapy identified no recurrence over 11 months. This study also reviewed existing literature and determined that retrograde venous spread from the primary kidney tumor to the testis may be an important pathway for testicular metastasis from RCC. In conclusion, RCC can result in testicular metastases not only unilaterally, but also bilaterally, as was observed in the present case.
Biopsy-Proven Melanosis Coli Initially Diagnosed As Candidiasis on Colonoscopy: A Report of Two Cases From North Central Nigeria
Authors: Kevin N Ezike, Ijeoma A Okwudire-Ejeh, Iliya K Salu, Chidi V Nnabuchi, Michael E Aghahowa, Frank O Ani, Hope M Isaac
Journal: Cureus (2023)
Keywords: chronic constipation, colonoscopy, laxative use, melanosis coli, whitish patches
MeSH terms: Case Reports

Melanosis coli is a benign condition, often identified as an incidental finding during colonoscopy, characterized by brown or black pigmentation of the colonic mucosa due to lipofuscin deposition within the cytoplasm of cells. It has been linked to the excessive use of laxatives, particularly those that are anthraquinone-based but also stimulant laxatives and herbal remedies. White patches on colonoscopy in this condition are an extremely rare finding. We present two cases of 31- and 38-year-old, male Nigerians, with a history of chronic constipation and prolonged stimulant laxative use in whom colonoscopy findings of white patches on the colonic mucosa were confirmed on histology to be melanosis coli. Melanosis coli should be considered in the differential diagnosis of patients with chronic constipation and/or prolonged use of laxatives or herbal remedies who exhibit mucosal changes on colonoscopy even if these changes are not black or brown discolorations.
A Novel Variant in Non-coding Region of GJB1 Is Associated With X-Linked Charcot-Marie-Tooth Disease Type 1 and Transient CNS Symptoms
Authors: Si Luo, Hui Jin, Jiajun Chen, Lei Zhang
Journal: Front Neurol (2019)
Keywords: charcot-marie-tooth disease, gjb1, central nervous system manifestations, pedigree, variant
MeSH terms: Case Reports

X-linked Charcot-Marie-Tooth disease type 1 (CMTX1) is a dominantly inherited peripheral neuropathy and is caused by mutations in gap junction beta 1 gene (GJB1). Here, a novel variant of c.-170T>G in GJB1 was identified in a large Chinese CMTX1 pedigree. The proband presented transient "stroke-like" episodes in addition to the peripheral neuropathy. At the time of episode, he had transient hyperthyroidism. To our knowledge, this is the first variant found in non-coding region associated with transient central nervous system (CNS) symptoms and in this case, thyroid dysfunction might contribute to the episode. The mechanism of CMTX1 as well as the transient CNS symptoms waits to be elucidated.