OpenMed/multicare-articles huggingface dataset:
Left ventricular function in a large cohort of pseudoxanthoma elasticum patients
Authors: Loïc Bière, Erwan Donal, Gwenola Terrien, Alain Furber, Ludovic Martin, Fabrice Prunier
Journal: PLoS One (2014)
MeSH terms: Pseudoxanthoma Elasticum / physiopathology, Ventricular Function, Left, Clinical Trial, Research Support, Non-U.S. Gov't, Cohort Studies, Diastole, Echocardiography, Female, Humans, Male, Middle Aged, Pseudoxanthoma Elasticum / diagnostic imaging, Systole

Objective:
Pseudoxanthoma elasticum (PXE) is a rare autosomal recessive disorder characterized by the mineralization and fragmentation of elastic fibers in the skin, retina, and vascular walls. While there is no doubt that peripheral arterial disease is associated with PXE, several other cardiac complications have been linked with PXE, mainly based on case reports. It remains unclear, whether cardiac systolic or diastolic function impairment is a common complication of PXE.
Methods:
This study conducted systematic assessment of left ventricular systolic and diastolic function via standard echocardiography and two-dimensional strain imaging, in a large cohort of asymptomatic PXE patients (n = 75) and matched healthy controls (n = 30).
Results:
PXE and controls did not differ in terms of any of the diastolic parameters tested: E-wave (82 ± 17 cm/s vs. 82 ± 13 cm/s, p = 0.890), E deceleration time (191.7 ± 55.6 ms vs. 190.0 ± 35.9 ms, p = 0.879), and E/Em ratio (7.1 ± 2.3 vs. 7.0 ± 1.8, p = 0.829). In addition, no significant differences were observed between PXE and control in terms of left ventricular volumes and ejection fraction, as well as global, basal, mid, and apex longitudinal strains.
Conclusions:
These findings revealed that preclinical cardiac dysfunction is uncommon in a large population of asymptomatic PXE patients.
Orthognathic Surgery after Mandibular Large-Volume Osteoma Treatment
Authors: Sabit Demircan, Sabri Cemil İşler, Aydın Gümüşdal, Begüm Genç
Journal: Case Rep Dent (2020)
MeSH terms: Case Reports

Osteoma is a benign asymptomatic osseous tumor. Characterization of osteoma is the proliferation of cancellous or compact bone that increases in size by continuous formation of bone. It can be seen in any craniofacial structures, usually in paranasal sinuses and jaws. In this study, we present a 17-year-old male patient with a giant osteoma in the mandibular condyle. Posttreatment post-op follow-up, post-ortho, and orthognathic surgery after dental implantation are described.
Hantavirus Cardiopulmonary Syndrome and Diffuse Alveolar Hemorrhage in the Era of COVID-19
Authors: Khizar Hamid, Swaminathan Perinkulam Sathyanarayanan, Touba Naim, Muhammad Hamza, Mirza Omer Mahmood Baig, Emad Abu Sitta
Journal: Case Rep Infect Dis (2021)
MeSH terms: Case Reports

Hantavirus Cardiopulmonary Syndrome (HCPS) can occur after infection with Hantavirus which can occur by inhaling aerosolized rodent urine, feces, and saliva contaminated with the virus. It presents with the rapid development of pulmonary edema, respiratory failure, and cardiogenic shock with the hallmark being microvascular leakage. We report a patient with a history of alcohol abuse and recent exposure to mice and sick kittens who presented with cough with sputum production, shortness of breath, orthopnea, and new-onset lower extremity edema. Imaging revealed bilateral infiltrates more common on the left with an unremarkable echocardiogram. Testing for COVID-19, Human Immunodeficiency Virus (HIV), influenza, bacterial pneumonia including tuberculosis and methicillin-resistant Staphylococcus aureus (MRSA), aspergillosis, histoplasmosis, Blastomyces, and Coccidiodes was negative. Bronchoscopy and bronchoalveolar lavage revealed diffuse alveolar hemorrhage (DAH) and were negative for acid-fast bacilli and Nocardia cultures. He was further tested for Hantavirus, Q fever, leptospirosis, toxoplasmosis, and empiric treatment with doxycycline initiated. His Hantavirus IgM antibody came back positive. Human Hantavirus infection occurs after inhalation of infected rodent excreta; fortunately, human-to-human transmission has not been documented. HCPS most commonly occurs due to the Sin Nombre virus (SNV), has a case fatality rate of 50%, and is a notifiable disease in the United States. It has 3 distinct phases, prodromal, cardiopulmonary, and convalescent/recovery. The cardiopulmonary phase occurs from increased permeability of pulmonary capillaries and in severe cases can progress to cardiogenic shock. Diagnosis is based on the presence of IgM and IgG Hantavirus antibodies. Treatment is mainly supportive; however, patients are usually treated with broad-spectrum antibiotics while workup is underway. In animal models, ribavirin and favipiravir are only effective when administered in the prodromal phase. If suspicion of Hantavirus infection exists, early mobilization to the intensive care unit for treatment is recommended. Extracorporeal membrane oxygenation (ECMO) has been suggested to improve outcomes in severe HCPS with refractory shock.
Asynchronous tele-expertise (ASTE) for prenatal diagnosis is feasible and cost saving: Results of a French case study
Authors: M'hamed Beldjerd, Antoine Lafouge, Roch Giorgi, Anne-Gaëlle Le Corroller-Soriano, Edwin Quarello
Journal: PLoS One (2022)
MeSH terms: Prenatal Diagnosis, Telemedicine / methods, Cost Savings, Female, Humans, Pregnancy, Referral and Consultation, Retrospective Studies, Ultrasonography

Objective:
The objective of this study was to assess the potential of the use of asynchronous tele-expertise (ASTE) to provide prenatal diagnosis from a medical and economic point of view.
Population:
Patients screened by a midwife at a primary center.
Methods:
A technical and clinical evaluation was conducted retrospectively, and a cost minimization study compared asynchronous tele-expertise to face-to-face consultations that would have been performed without ASTE.
Main outcome measures:
In our study we assessed the feasibility of ASTE, what were the origins of the requests for expertise, whether patients need to be moved and the reasons for doing so, and the costs of tele-expertise and conventional consultation.
Results:
In this retrospective analysis 322 advices from 260 patients were interpreted remotely via a platform. The results revealed a 90.68% feasibility of transmitting in a satisfactory and interpretable way ultrasound images and videos via the tele-expertise platform (292/322 files). In our series, asynchronous analysis allowed the required physician to make an accurate diagnosis and identify 74 (28.5%, 95% CI [23% -33.9%]) pregnancies associated with malformations and rule out abnormalities in 186 (71.5%, 95% CI [66.1% -77%]) of the cases. The ASTE was not associated with face-to-face consultations for 72.7% (189/260) of the patients, who without moving, were able to have access to a precise diagnosis by ruling out the presence of anomalies in 163/189 of these patients and confirming them in 26/189 patients. The practice of ASTE would result from a societal point of view, an average saving of 61.8% (€ 120.57) per patient compared to a face-to-face consultation.
Conclusion:
The use of asynchronous tele-expertise (ASTE) using fetal ultrasound, is feasible and may contribute to increased diagnostic accuracy while generating a significant reduction in costs for society.
Successful Outcome of Low-Dose S-1 Used to Treat Buccal Squamous Cell Carcinoma
Authors: Kazuyuki Yusa, Hideyuki Yamanouchi, Ayako Sugano, Mitsuyoshi Iino
Journal: Case Rep Oncol Med (2017)
MeSH terms: Case Reports

This case report describes an 86-year-old woman with dormant right buccal squamous cell carcinoma who was able to maintain a reasonable quality of life after being treated with oral low-dose S-1 (80 mg/day). The treatment regimen started in April 2014 and consisted of two weeks of S-1 followed by a one-week interval. The patient remains on this regimen while maintaining her quality of life and she has been under follow-up as an outpatient for 36 months. The outcomes for this patient indicated that low-dose S-1 is a valid anticancer therapy that may help maintain quality of life for some patients with incurable or dormant cancers.
Case Report: Extragonadal Yolk Sac Tumors Originating From the Endometrium and the Broad Ligament: A Case Series and Literature Review
Authors: Xianzhong Cheng, Qian Zhao, Xia Xu, Wenwen Guo, Hongyuan Gu, Rui Zhou, Chen Chen, Dawei Ma, Yinan Wu, Jing Ni, Xiaoxiang Chen
Journal: Front Oncol (2021)
Keywords: bleomycin, broad ligament, endometrium, etoposide and platinum, extragonadal, yolk sac tumor
MeSH terms: Case Reports

Yolk sac tumors (YSTs) of the endometrium and the broad ligament are very rare, with only 29 cases and one case of each other reported before in the English literature. Due to lack of standard guidelines, the treatment strategies of these diseases are controversial. Here, we share two cases of YSTs originating from the endometrium and the broad ligament respectively and review related literature. A 35-year-old woman was diagnosed with endometrial YST in our center and underwent surgery followed by chemotherapy with BEP (bleomycin, cisplatin and etoposide) regimen for six courses. After follow-up for 21 months, there is still no evidence of relapse. Another 36-year-old woman was admitted to our department with YST of the broad ligament. She was treated with surgery followed by chemotherapy with BEP regimen and was lost to follow-up after completing therapy. The case of endometrial YST we shared was similar to cases reported before, while the case with YST of the broad ligament we shared was the second case reported worldwide. Both of these two cases were treated with surgery combined with chemotherapy with BEP regimen.
Cutaneous Vasculitis: An Unusual Presentation of a Biclonal Nodal Plasma Cell Dyscrasia
Authors: D Swan, M Murphy, E Elhassadi
Journal: Case Rep Hematol (2017)
MeSH terms: Case Reports

We describe an unusual case of a biclonal nodal plasma cell dyscrasia, presenting with a vasculitic rash, end-organ damage, and cytopenias. Serum protein electrophoresis demonstrated a biclonal kappa-restricted paraprotein, with a negative skeletal survey and no bone marrow disease. Fluorodeoxyglucose-PET-CT (FDG-PET-CT) revealed nodal involvement, which was not appreciable clinically, and facilitated biopsy, confirming the diagnosis of a nodal plasmacytoma. Complete biochemical response and resolution of the vasculitic rash were achieved with bortezomib-based therapy.
A Novel Mutation of Transferrin Receptor 2 in a Chinese Pedigree With Type 3 Hemochromatosis: A Case Report
Authors: Shan Tang, Li Bai, Yuan Gao, Wei Hou, Wenyan Song, Hui Liu, Zhongjie Hu, Zhongping Duan, Liaoyun Zhang, Sujun Zheng
Journal: Front Genet (2022)
Keywords: chinese, tfr2 gene, case report, compound heterozygous mutation, hereditary hemochromatosis
MeSH terms: Case Reports

Type 3 hereditary hemochromatosis (HH) is a rare form of HH characterized by genetic mutation in the TFR2 gene. Clinical features reported in patients with type 3 HH include abnormal liver function, liver fibrosis, cirrhosis, diabetes, hypogonadism, cardiomyopathy, and skin pigmentation. Since its original description in 2000, 33 pathogenic TFR2 mutations associated with HH have been described until now. Here, we first reported a Chinese pedigree of TFR2-related hemochromatosis with a novel compound heterozygous mutation c.1288G > A (p.G430R)/c.960T > A (p.Y320X). Interestingly, different phenotypes were reported although the proband and his sister shared the same gene mutation. This inconsistency between genotypes and phenotypes indicates multifactorial etiology contributing to the development of HH. Our report broadens the mutation spectrum of the TFR2 gene associated with HH.
A Fixed, Unreducible, Unstable Medial Swivel Dislocation of the Talonavicular Joint with Associated Navicular Fracture
Authors: James T Layson, Alan Afsari, Todd Peterson, David Knesek, Benjamin Best
Journal: Case Rep Orthop (2021)
MeSH terms: Case Reports

A 32-year-old white male was on a second-story balcony when he fell off and landed on the cement below. With initial X-rays being read as negative on the radiology report due to the subtle nature of the injury, the patient was promptly diagnosed with a medial swivel dislocation by the orthopaedic team, which ended up being fixed, unstable, and irreducible. The patient also had acute skin compromise and needed to be taken to the operating room prior to progression of skin breakdown. This dislocation pattern is a rare variant, especially when paired with the fixed nature of the dislocation and the soft tissue compromise. In the end, open treatment was necessary in order to reduce the talonavicular joint. Because of early recognition and prompt treatment, skin breakdown was avoided. Internal screw fixation of the fractured navicular bone was needed along with K-wire insertion to hold the normal anatomy of the talonavicular joint reduced. All hardware was ultimately removed after healing, and anatomy was restored with excellent patient function. This case report highlights the orthopaedic knowledge needed to not only recognize this rare fracture-dislocation pattern but to also treat it promptly when encountered.
Everolimus and Malignancy after Solid Organ Transplantation: A Clinical Update
Authors: Hallvard Holdaas, Paolo De Simone, Andreas Zuckermann
Journal: J Transplant (2016)
MeSH terms: Review

Malignancy after solid organ transplantation remains a major cause of posttransplant mortality. The mammalian target of rapamycin (mTOR) inhibitor class of immunosuppressants exerts various antioncogenic effects, and the mTOR inhibitor everolimus is licensed for the treatment of several solid cancers. In kidney transplantation, evidence from registry studies indicates a lower rate of de novo malignancy under mTOR inhibition, with some potentially supportive data from randomized trials of everolimus. Case reports and small single-center series have suggested that switch to everolimus may be beneficial following diagnosis of posttransplant malignancy, particularly for Kaposi's sarcoma and nonmelanoma skin cancer, but prospective studies are lacking. A systematic review has shown mTOR inhibition to be associated with a significantly lower rate of hepatocellular carcinoma (HCC) recurrence versus standard calcineurin inhibitor therapy. One meta-analysis has concluded that patients with nontransplant HCC experience a low but significant survival benefit under everolimus monotherapy, so far unconfirmed in a transplant population. Data are limited in heart transplantation, although observational data and case reports have indicated that introduction of everolimus is helpful in reducing the recurrence of skin cancers. Overall, it can be concluded that, in certain settings, everolimus appears a promising option to lessen the toll of posttransplant malignancy.
Complicated acute haematogenous osteomyelitis with fatal outcome following a closed clavicle fracture-a case report and literature review
Authors: Tina Kocutar, Žiga Snoj, Vladka Salapura
Journal: BJR Case Rep (2016)
MeSH terms: Case Reports

Among adults, post-traumatic osteomyelitis following a closed fracture is a rarely described entity in the literature, with the involvement of the clavicle bone being particularly uncommon. Early diagnosis and treatment of clavicular osteomyelitis is crucial to prevent serious consequences such as sepsis, mediastinitis and haemorrhage from the great vessels. A 54-year-old male patient presented to the emergency department complaining of fatigue and limited mobility after having fallen and hit his head and right shoulder 10 days previously. No major injury was found during the diagnostic procedure, and the patient was discharged. 2 weeks later, the patient returned with clinical signs of right upper arm cellulitis and probable sepsis. Diagnostic ultrasound imaging and MRI of the right upper arm, as well as re-examination of the X-ray image, confirmed acute complex osteomyelitis of the right clavicle following an overlooked clavicle fracture. Microbiological analysis confirmed clavicular osteomyelitis caused by Escherichia coli septicaemia. Despite prompt treatment with i.v. antibiotics and surgery, the patient's condition rapidly deteriorated and he passed away. Our case demonstrates the critical importance of early diagnosis and appropriate treatment of a closed fracture. Late diagnosis may lead to severe complications, such as complicated osteomyelitis and sepsis, and even a fatal outcome. Furthermore, a brief literature review is presented of previously reported acute osteomyelitis following a closed fracture, including evidence of affected bone and isolated pathogens. Although uncommon, osteomyelitis should be considered a possible cause of a deteriorating clinical condition in patients with a history of recent trauma.
A Rare Cause of Hemophagocytic Lymphohistiocytosis: Fusobacterium Infection-A Case Report and Review of the Literature
Authors: Ghulam Rehman Mohyuddin, Heather J Male
Journal: Case Rep Hematol (2016)

Hemophagocytic lymphohistiocytosis (HLH) is a rare syndrome characterized by excessive activation of the immune system. Bacterial infections are very rare precipitants of this disease. A 19-year-old gentleman presented with headache, fatigue, and malaise. He was found to be hypotensive, tachycardic, and febrile. Broad spectrum antibiotics were initiated, and a lumbar puncture ruled out meningitis. Patient progressively developed shock that required use of vasopressors, as well as renal and respiratory failure. Blood cultures grew Fusobacterium necrophorum. Given continued fevers despite appropriate antimicrobials, a bone marrow biopsy was performed revealing increased histiocytes with hemophagocytosis. Dexamethasone was added with dramatic clinical improvement. Our case highlights Fusobacterium as a rare precipitant of HLH and proves that a high index of clinical suspicion is crucial for early diagnosis of HLH, allowing for prompt initiation of HLH-specific immunosuppressive therapy that can be life-saving.
Interdisciplinary Approach for Management of Iatrogenic Internal Root Resorption: A Case Report
Authors: Mohsen Ramazani, Saeed Asgary, Nafiseh Zarenejad, Javad Mehrani
Journal: Iran Endod J (2016)
Keywords: calcium-enriched mixture, interdisciplinary treatment, internal root resorption
MeSH terms: Case Reports

For management of a symptomatic maxillary lateral incisor with dull pain on chewing, suppurative sinus tract, defective metal-ceramic crown and iatrogenic internal root resorption, an interdisciplinary approach was taken. Two-visit nonsurgical treatment with calcium-enriched mixture (CEM) cement, replacement of metal-ceramic crown with all-ceramic crown and corrective periodontal plastic surgery were included in the treatment plan. Six-month and one-year follow-ups revealed complete resolution of signs and symptoms and radiographic healing. This case report highlights the importance of adequate cooling during crown preparation to preserve the pulp vitality and prevent internal resorptive lesions and also the profound sealing ability and biocompatibility of CEM cement.
An Unusual Case of an Acquired Aortopulmonary Fistula after Surgical Replacement of a Bicuspid Aortic Valve
Authors: Y Khalid, N Dasu, M Daneshvar, P Jang, A Patel, K Dasu, A Shah
Journal: Case Rep Cardiol (2021)
MeSH terms: Case Reports

Aortopulmonary fistulas are extremely rare and often occur as a result of long-standing aortic aneurysms. They are most frequently due to the erosion of a false aneurysm of the ascending or descending thoracic aorta into the pulmonary artery. Patients generally present with symptoms of acute decompensated heart failure due to a sudden formation of a left-to-right shunt. Here, we present the case of a 63-year-old male who acquired an aortopulmonary fistula four months after undergoing successful bioprosthetic aortic valve replacement.
Neurobrucellosis: A Case Report from Himachal Pradesh, India, and Review of the Literature
Authors: Sujeet Raina, Ashish Sharma, Rajesh Sharma, Amit Bhardwaj
Journal: Case Rep Infect Dis (2016)

Human brucellosis is a multisystem disease that commonly presents as a febrile illness along with variable spectrum of clinical manifestations. Neurological complications include encephalitis, meningoencephalitis, radiculitis, myelitis, peripheral and cranial neuropathies, subarachnoid hemorrhage, and psychiatric manifestations. We report a case diagnosed as neurobrucellosis who presented with fever and bilateral upper motor neuron symptoms and signs along with bilateral sensorineural deafness. Diagnosis was confirmed by Rose Bengal Test (RBT) and standard tube agglutination test (SAT).
Thrombosed Aneurysm of Superficial Epigastric Vein Simulating Inguinal Hernia: Report of Two Cases
Authors: Eleni Skandalou, Panagiotis Papadopoulos, Marianthi Kavelidou, Stavros Kalfadis, Theodoros Tzigkalidis, Ioannis Skandalos
Journal: Case Rep Vasc Med (2021)
MeSH terms: Case Reports

Aim:
Presentation of two cases of superficial epigastric vein aneurysm simulating inguinal hernia. To our knowledge, only one other case is reported in the literature. Case presentation. The first case was a 34-year-old female with left inguinal pain and swelling which was clinically diagnosed as inguinal hernia. The second case was a 28-year-old female with inguinal pain and swelling, depicted with triplex ultrasonography and computed tomography, and was suspected to have inguinal hernia or enlarged inguinal lymph node. During the surgical exploration, both patients were found to have thrombosed aneurysm of the superficial epigastric vein. During the surgical exploration, both patients were found to have thrombosed aneurysm of the superficial epigastric vein. The superficial epigastric vein was ligated, and the venous aneurysms (6 × 4 × 3 and 2 × 3 × 2.5 cm, respectively) were excised. Histological examination of the thrombosed aneurysm showed complete replacement of the vascular wall by fibrous tissue, thrombosis, and an inflammatory reaction. There were no postoperative complications, and both patients were discharged on the second postoperative day. The 3-month and 1-year follow-up examination, respectively, was uneventful.
Conclusion:
Although venous aneurysms in the inguinal area are rare, they should be included in the differential diagnosis of a groin swelling.