OpenMed/multicare-articles huggingface dataset:
Maffucci's Syndrome or a Variant?
Authors: Yousuf Aziz Khan, Soofia Ahmad
Journal: APSP J Case Rep (2013)
Keywords: enchondromas, haemangiomas, maffucci’s syndrome
MeSH terms: Case Reports

Maffucci's syndrome is a rare non hereditary disorder characterized by multiple enchondromas and haemangiomas. A 12 year old boy presented with a painful swelling at his right hand and deformed left upper limb. On detailed workup, he was found to have multiple enchondromas involving long bones and a single haemangioma. A diagnosis of Maffucci's syndrome was established. The clinical features and workup of the disease in our patient is reported.
Off-Label Use of a Double-Layer Micromesh Carotid Stent for Hybrid Treatment of Popliteal Artery Aneurism Complicated by Chronic Distal Embolization
Authors: Sorin Barat, Dumitru Casian
Journal: Case Rep Vasc Med (2021)
MeSH terms: Case Reports

We report our initial experience in off-label use of the double-layer micromesh (DLM) Roadsaver® stent for the hybrid treatment of a fusiform popliteal artery aneurism complicated by distal embolization and chronic limb threatening ischemia in a COVID-19-positive young male. A 36-year-old male patient was admitted with chronic limb threatening ischemia of the left lower limb. The duplex ultrasound and computer tomography angiography (CTA) demonstrated a fusiform popliteal artery aneurism with a maximal diameter of 14 mm and distal occlusion of peroneal and both tibial arteries. Urgent hybrid intervention was performed, starting with an open thrombectomy from the distal posterior tibial artery via a retromalleolar access followed by percutaneous deployment of the DLM Roadsaver® stent (Terumo, Tokyo, Japan) for the exclusion of the popliteal artery aneurism. The flow diverting effect was observed immediately with contrast stagnation in the asymmetrical part of the aneurism sac (grade C2 of the O'Kelly-Marotta flow diversion scale). The procedure was uneventful, with the regaining of an adequate foot perfusion and palpable pulse at the posterior tibial artery. On the 2nd postoperative day, the patient was diagnosed with a symptomatic form of COVID-19 infection and transferred to a dedicated facility. At a one-month follow-up, the patient had no symptoms of limb ischemia and CTA showed complete thrombosis of the aneurism sac, absence of endoleaks, and patency of the treated arterial segment. This case demonstrates the possibility of off-label use of the DLM Roadsaver® stent for hybrid treatment of popliteal artery aneurism complicated by distal embolization and critical limb ischemia.
Effects of tofacitinib on the clinical features of periodontitis in patients with rheumatoid arthritis: two case reports
Authors: Tetsuo Kobayashi, Satoshi Ito, Akira Murasawa, Hajime Ishikawa, Hiromasa Yoshie
Journal: BMC Rheumatol (2019)
Keywords: case report, periodontitis, proinflammatory cytokines, rheumatoid arthritis, tofacitinib
MeSH terms: Case Reports

Background:
The pathobiology of rheumatoid arthritis (RA) is similar to that of periodontitis in that proinflammatory cytokines play an important pathologic role. There is evidence to suggest that inhibitors of tumor necrosis factor (TNF) and interleukin-6 (IL-6) receptor for the treatment of RA ameliorated periodontal inflammation. However, no study has evaluated the effect of tofacitinib, an oral Janus kinase inhibitor for the treatment of RA, on periodontitis.
Case presentation:
The present report cases are 51- and 43-year-old non-smoking women with RA who demonstrated localized moderate chronic periodontitis. Both cases showed improvement in the periodontal inflammatory condition after 3 months of tofacitinib therapy, although the teeth count and supragingival bacterial plaque level were relatively unchanged. Improvements were also observed in the serum levels of IL-6 in both cases as well as in the serum levels of TNF-α and anti-cyclic citrullinated peptide immunoglobulin G in one case and of rheumatoid factor and matrix metalloproteinase-3 in the other case. Patients who received tofacitinib exhibited an inconsistent clinical response, likely due to the low disease activity of RA at the start of the administration.
Conclusions:
These are the first reported cases in which tofacitinib may have a beneficial effect on periodontitis. However, more research is required to understand the relationship between periodontitis and tofacitinib therapy.
Lumbar Radiculopathy Caused by Epidural Gas Collection
Authors: Dong Hu, Kai Xu, Songhua Xiao
Journal: Case Rep Orthop (2022)
MeSH terms: Case Reports

Background:
Degenerated intervertebral discs in the lumbar spine are commonly found with vacuum phenomenon. In a few cases, gas can migrate into the lumbar spinal canal and compress the nerve root. Case Presentation. We report a case of lumbar radiculopathy caused by epidural gas collection in a 59-year-old woman. Originally, the gas was formed in the intervertebral disc and possibly migrated backward because of the motion of lumbar spine, forming a single large gas formation. The nerve root was freed from the gas-filled cyst after needle puncture was performed. Patient's symptoms in the leg were significantly relieved following surgery.
Conclusion:
There is still no satisfactory explanation for the pathogenesis of gas formation in the spinal canal. In our case, the presence of gas in the spinal canal and gas inside a narrowed disc suggests a communication between the two structures.
Follow-up of young adult monozygotic twins after simultaneous critical coronavirus disease 2019: A case report
Authors: Mateus V de Castro, Monize V R Silva, Flávia B Soares, Vivian R Cória, Michel S Naslavsky, Marilia O Scliar, Erick C Castelli, Jamile R de Oliveira, Greyce L Sasahara, Keity S Santos, Edecio Cunha-Neto, Jorge Kalil, Mayana Zatz
Journal: Front Med (Lausanne) (2022)
Keywords: covid-19, sars-cov-2, genetic variants, immunity, monozygotic twins
MeSH terms: Case Reports

Background:
The influence of the host genome on coronavirus disease 2019 (COVID-19) susceptibility and severity is supported by reports on monozygotic (MZ) twins where both were infected simultaneously with similar disease outcomes, including several who died due to the SARS-CoV-2 infection within days apart. However, successive exposures to pathogens throughout life along with other environmental factors make the immune response unique for each individual, even among MZ twins.
Case presentation and methods:
Here we report a case of a young adult monozygotic twin pair, who caught attention since both presented simultaneously severe COVID-19 with the need for oxygen support despite age and good health conditions. One of the twins, who spent more time hospitalized, reported symptoms of long-COVID even 7 months after infection. Immune cell profile and specific responses to SARS-CoV-2 were evaluated as well as whole exome sequencing.
Conclusion:
Although the MZ twin brothers shared the same genetic mutations which may be associated with their increased risk of developing severe COVID-19, their clinical progression was different, reinforcing the role of both immune response and genetics in the COVID-19 presentation and course. Besides, post-COVID syndrome was observed in one of them, corroborating an association between the duration of hospitalization and the occurrence of long-COVID symptoms.
Dengue-COVID-19 coinfection: the first reported case in the Philippines
Authors: Angyap Saipen, Bernard Demot, Lowella De Leon
Journal: Western Pac Surveill Response J (2021)
MeSH terms: COVID-19 / diagnosis, COVID-19 Drug Treatment, Coinfection, Dengue / diagnosis, Dengue / drug therapy, Case Reports, COVID-19 / epidemiology, Dengue / epidemiology, Dengue Virus / isolation & purification, Dengue Virus / pathogenicity, Early Diagnosis, Female, Humans, Middle Aged, Philippines / epidemiology, SARS-CoV-2 / isolation & purification, SARS-CoV-2 / pathogenicity, Treatment Outcome

The rainy season in the Philippines is from June to October; this is when the number of dengue cases typically increases. In 2020 during this time, the world was facing the threat of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. Coronavirus disease 2019 (COVID-19) and dengue viral infections have similar presentations and laboratory findings, including fever and thrombocytopenia, and there have been reports of coinfection with SARS-CoV-2 and arthropod-borne virus. Here, we report a case of SARS-CoV-2-dengue virus coinfection in the Philippines in a female aged 62 years, whose early symptom was fever and who was positive for SARS-CoV-2 and positive for dengue. Early recognition of such coinfection is important so that proper measures can be taken in the management of the patient.
Adenocarcinoma In Situ Arising from Brunner's Gland Treated by Endoscopic Mucosal Resection
Authors: Masaya Iwamuro, Sayo Kobayashi, Nobuya Ohara, Seiji Kawano, Yoshiro Kawahara, Hiroyuki Okada
Journal: Case Rep Gastrointest Med (2017)
MeSH terms: Case Reports

An 86-year-old Japanese man was presented to our hospital for further investigation of duodenal adenocarcinoma. The tumor was endoscopically resected. Pathological analysis revealed coexistence of gastric foveolar metaplasia and a surrounding hyperplastic Brunner's gland, in addition to an adenocarcinoma component. Immunostaining for MUC5AC and MUC6 confirmed the diagnosis of adenocarcinoma in situ arising from Brunner's gland hyperplasia. This case suggests that although detailed preoperative evaluation is required to determine the depth of tumor invasion, endoscopic resection may be a promising option for the treatment of adenocarcinomas arising from Brunner's gland hyperplasia.
Fatal Pulmonary Embolism following Achilles Tendon Repair: A Case Report and a Review of the Literature
Authors: Asim M Makhdom, Simon Garceau, Ronald Dimentberg
Journal: Case Rep Orthop (2013)

Deep venous thrombosis (DVT) is a significant source of morbidity in orthopaedic surgery. It can progress to a pulmonary embolism, a significant source of mortality. Up to date, patients with Achilles tendon rupture routinely do not receive DVT chemical prophylaxis. We are presenting a case of fatal pulmonary embolism after a surgically treated Achilles tendon rupture in a forty-two-year-old male healthy patient. In the current body of the literature, the reported incidence of DVT after Achilles tendon rupture is highly variable ranging from less than 1% to 34%, and there is a disagreement in the international guidelines regarding the need of chemical DVT prophylaxis with this type of injury. Further research needs to be conducted to investigate the risks and benefits of chemical DVT prophylaxis following Achilles tendon rupture. For low-risk patients, the use of milder forms of prophylaxis such as aspirin should also be explored.
Daptomycin associated eosinophilic pneumonia: case report and differential diagnoses
Authors: Sijan Basnet, Niranjan Tachamo, Rashmi Dhital, Biswaraj Tharu
Journal: J Community Hosp Intern Med Perspect (2018)
Keywords: daptomycin, adverse effect, eosinophilic pneumonia
MeSH terms: Case Reports

Daptomycin is a bactericidal antibiotic approved for treatment of gram-positive skin and soft tissue infections. We present a case of an 89-year-old man who presented with fever, shortness of breath and nonproductive cough on week 4 of starting daptomycin for infective endocarditis. Computerized tomography scan showed bilateral interstitial infiltrates predominantly affecting the lower lobes. He also had peripheral eosinophilia of 6%. He was diagnosed with eosinophilic pneumonia secondary to daptomycin use. His symptoms improved with discontinuation of daptomycin and initiation of corticosteroids. Clinical correlation of pneumonia-like presentation with recent use of daptomycin should make physicians rule out this rare adverse effect for early institution of correct treatment.
Ruptured Superficial Femoral Artery Anastomotic Pseudoaneurysm after 30 Years
Authors: D Baldwin, H Mashbari, K L Chow, M Sarhan
Journal: Case Rep Vasc Med (2019)
MeSH terms: Case Reports

Introduction:
Anastomotic pseudoaneurysms are a complication of vascular reconstructive surgery with the majority in the femoral region. Although rare, ruptured femoral anastomotic pseudoaneurysms have high mortality and require emergency surgery.
Case presentation:
A 60-year-old male with a history of a left leg crush injury was treated with a superficial femoral artery interposition vein graft 30 years ago. He presented nowadays with a three-day history of severe pain in his left thigh. CT angiography demonstrated a ruptured anastomotic pseudoaneurysm with contrast extravasation into an intramuscular hematoma. He had significant scarring from his previous surgeries which made the leg hostile for an open repair. Therefore, percutaneous access selectively cannulated the left iliofemoral vasculature. An angiogram showed a distal superficial femoral artery pseudoaneurysm. Subsequently, two 10mmx15cm Viabahn covered stents (Gore & Associates, Flagstaff, AZ) were placed bridging healthy superficial femoral artery. A completion angiogram demonstrated no extravasation into the pseudoaneurysm. The patient recovered and was discharged home two days postoperatively.
Conclusion:
Ruptured femoral anastomotic pseudoaneurysms are traditionally repaired with open pseudoaneurysm excision and arterial reconstruction, although endovascular repair has been reported. Furthermore, most femoral anastomotic pseudoaneurysms form less than 10 years after initial operation. We present a unique case of ruptured superficial femoral artery pseudoaneurysm, 30 years after the initial operation. Endovascular stents offer effective treatment for ruptured anastomotic pseudoaneurysms.
Longterm Improvement After Cessation of Chronic Deep Brain Stimulation in Acquired Dystonia
Authors: Marc E Wolf, Christian Blahak, Christoph Schrader, Joachim K Krauss
Journal: Tremor Other Hyperkinet Mov (N Y) (2021)
Keywords: battery depletion, deep brain stimulation, dystonia, globus pallidus internus, ventral intermediate nucleus
MeSH terms: Deep Brain Stimulation, Dystonia / therapy, Dystonic Disorders / therapy, Case Reports, Adult, Globus Pallidus, Humans, Male

Introduction:
Deep brain stimulation (DBS) has become an accepted treatment for inherited and idiopathic dystonia but less so for acquired dystonia. Patients benefit from long-term improvement with chronic DBS. Prolonged benefit over months has even been reported after cessation of stimulation on long-term follow-up.
Case report:
We report a case of a 25-year-old man with acquired dystonia who had sustained symptom improvement despite battery depletion after 6.5 years of chronic bilateral thalamic and pallidal DBS.
Discussion:
We posit that chronic pallidal DBS can be a genuine disease-modifying treatment in single patients with dystonia with regard to its long-term effect even after prolonged discontinuation.
Highlights:
Chronic deep brain stimulation (DBS) is an approved treatment for idiopathic and inherited dystonia. During the early course of chronic stimulation, cessation of DBS due to battery depletion results in rapid worsening of symptoms and rapid battery replacement is required. Few reports of sustained symptom relief in idiopathic dystonia have been published. We report a case of sustained symptom relief in acquired dystonia after DBS cessation which likely reflects neuroplasticity changes with a disease-modifying impact.
Nonocclusive Mesenteric Ischemia Rescued by Immediate Surgical Exploration in a Boy with Severe Neurodevelopmental Disability
Authors: Manami Mizumoto, Fumihiro Ochi, Toshihiro Jogamoto, Kentaro Okamoto, Mitsumasa Fukuda, Toshifumi Yamauchi, Toyohisa Miyata, Ryo Tashiro, Mariko Eguchi, Riko Kitazawa, Eiichi Ishii
Journal: Case Rep Pediatr (2019)
MeSH terms: Case Reports

Background:
Nonocclusive mesenteric ischemia (NOMI) defines acute mesenteric ischemia without occlusion of the mesenteric arteries. The most common cause of NOMI is vasoconstriction or vasospasm of a mesenteric artery. NOMI generally affects patients >50 years of age, and few cases have been reported in children.
Case presentation:
A 15-year-old boy with severe neurodevelopmental disability developed sudden-onset fever, abdominal distention, and dyspnea. Laboratory and radiological findings indicated acute intestinal obstruction and prerenal failure. He developed transient cardiopulmonary arrest and hypovolemic shock. Emergent laparotomy was performed, which revealed segmentally necrotic intestine from the jejunum to the ascending colon with pulsation of peripheral intestinal arteries, leading to a diagnosis of NOMI. The necrotic intestine was resected, and stomas were created. He was discharged on postoperative day 334 with short bowel syndrome as a complication.
Conclusions:
NOMI should be considered a differential diagnosis for intestinal symptoms with severe general conditions in both adults and children with underlying disease. Immediate surgical exploration is essential with NOMI to save a patient's life.
Antenatal Spontaneous Renal Forniceal Rupture Presenting as an Acute Abdomen
Authors: Jennifer Travieso, Omar M Young
Journal: Case Rep Med (2018)
MeSH terms: Case Reports

Background:
Renal forniceal rupture is a lesser-known cause of acute abdomen in pregnancy. The ureteral compression by the gravid uterus places pregnant women at a higher risk. Sequelae in pregnancy could include intractable pain, acute kidney injury, and preterm birth.
Case:
A 22-year-old primigravida with no prior medical history presented with an acute abdomen in her second trimester. The diagnosis of renal forniceal rupture was made by a radiologist using MRI. A percutaneous nephrostomy catheter was placed, and the patient's pain was relieved. She subsequently delivered at term.
Conclusion:
Upon presentation of an acute abdomen in pregnancy, providers may not include renal forniceal rupture in their differential as readily as obstetric or gynecologic causes, resulting in delayed diagnosis, unnecessary invasive interventions, and potentially adverse maternal and neonatal outcomes. Increasing provider awareness could result in improved outcomes.
The career paths of researchers in long-term employment on short-term contracts: Case study from a UK university
Authors: Cecile B Menard, Sara Shinton
Journal: PLoS One (2022)
MeSH terms: Career Choice, Research Personnel, Research Support, Non-U.S. Gov't, Employment, Humans, United Kingdom, Universities

The career stage between PhD and lectureship, conventionally called "postdoctoral", has traditionally been seen as transitional. However, with an estimated one third of university researchers in the United Kingdom having been employed on temporary contracts for more than 10 years, the transitional nature of this career stage is questionable. Despite so many research staff being in long-term employment on short-term contracts, the lack of visibility of this population, which does not have a legitimate place within the current academic career structure, means that we do not know how deliberate or accidental their career choices are. Based on semi-structured interviews with long-term researchers (LTRS) at one university in the United Kingdom, this is the first study to investigate the personal and professional circumstances behind the career path of long-term researchers on temporary contracts. Three categories of LTRS were identified: 1) the candidate, who wants to follow the traditional academic career pathway and to secure a lectureship 2) the accidental long-term researcher, who did not or could not plan their career path 3) the career researcher, who sustains a research-only career despite the precarity of such positions. Most participants had belonged successively to two categories. Some obstacles to career progression transcended the categories: inequal access to opportunities for developing one's teaching portfolio, poor or lack of managerial support, the perceived prestige or lack thereof of one's field, and bullying and discrimination. We argue that short-termism and lack of visibility play down considerably the contribution of long-term researchers to the financial and academic success of research institutions. We also argue that traditional-but still in place-structures in academia are ill adapted to the contemporary demographics and practices of the research community; we recommend that future studies involve HE sector stakeholders to review and to reform the academic career structure.
New-Onset Myocarditis in an Immunocompetent Adult with Acute Metapneumovirus Infection
Authors: Mark A Weinreich, Ahmad Y Jabbar, Nagina Malguria, Robert W Haley
Journal: Case Rep Med (2015)

Introduction. A number of viruses have been implicated in viral myocarditis; however, there has been no previous report of human metapneumovirus (hMPV) causing this condition. Discovered in 2001, hMPV is typically associated with upper respiratory illness, mainly affecting children. Case Presentation. We report the case of a 25-year-old man with acute systolic heart failure from viral myocarditis secondary to the hMPV. The patient was initially admitted to the general medical ward but developed increasing oxygen requirements resulting in transfer to the cardiac intensive care unit. Cardiac magnetic resonance imaging was used to help confirm the diagnosis. He was treated with intravenous diuretics, and afterload and preload agents, and he was subsequently discharged home after seven days of hospitalization. Discussion. hMPV is typically a respiratory pathogen; however, it was associated with in myocarditis in our patient. Due to the recent ability to detect this virus, we may see more cases of this, particularly during peak months of infection. Conclusion. This is the first case description of myocarditis associated with hMPV infection.
Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis-Cacchione Syndrome and a Novel XPC Mutation
Authors: Esteban Uribe-Bojanini, Sara Hernandez-Quiceno, Alicia María Cock-Rada
Journal: Case Rep Med (2017)
MeSH terms: Case Reports

Several genetic disorders caused by defective nucleotide excision repair that affect the skin and the nervous system have been described, including Xeroderma Pigmentosum (XP), De Sanctis-Cacchione syndrome (DSC), Cockayne syndrome, and Trichothiodystrophy. Cutaneous photosensitivity with an increased risk of skin malignancy is a common feature of these disorders, but clinical manifestations commonly overlap these syndromes. Several genes have been found to be altered in these pathologies, but we lack more genotype-phenotype correlations in order to make an accurate diagnosis. Very few cases of DSC syndrome have been reported in the literature. We present a case of a 12-year-old Colombian male, with multiple skin lesions in sun-exposed areas from the age of 3 months and a history of 15 skin cancers. He also displayed severe neurologic abnormalities (intellectual disability, ataxia, altered speech, and hyperreflexia), short stature, and microcephaly, which are features associated with DSC. Genetic testing revealed a novel germline mutation in the XP-C gene (c.547A>T). This is the first case of an XP-C mutation causing De Sanctis-Cacchione syndrome. Multigene panel testing is becoming more widely available and accessible in the clinical setting and will help rapidly unveil the molecular etiology of these rare genetic disorders.