OpenMed/multicare-articles huggingface dataset:
Case report: Frontotemporal dementia and amyotrophic lateral sclerosis caused by a missense variant (p.Arg89Trp) in the valosin-containing protein gene
Authors: Shiroh Miura, Shigeyoshi Hiruki, Tomohisa Okada, Satoko Itani Takei, Kensuke Senzaki, Yoko Okada, Masayuki Ochi, Yuki Tanabe, Hirofumi Ochi, Michiya Igase, Yasumasa Ohyagi, Hiroki Shibata
Journal: Front Genet (2023)
Keywords: vcp, amyotrophic lateral sclerosis 14 (als14), cerebellar atrophy, frontotemporal dementia and/or amyotrophic lateral sclerosis-6 (ftdals6), missense variant
MeSH terms: Case Reports

Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, also known as amyotrophic lateral sclerosis 14, is an autosomal dominant, progressive neurodegenerative disorder caused by various mutations in the valosin-containing protein gene. In this report, we examined a 51-year-old female Japanese patient with frontotemporal dementia and amyotrophic lateral sclerosis. The patient began noticing gait disturbances at the age of 45 years. Neurological examination at the age of 46 years met the Awaji criteria for clinically probable amyotrophic lateral sclerosis. At the age of 49 years, she tended to have poor mood and an aversion to activity. Her symptoms gradually worsened. She required a wheelchair for transport and had difficulty communicating with others because of poor comprehension. She then began to frequently exhibit irritability. Eventually, she was admitted to the psychiatric hospital because uncontrollable violent behavior throughout the day. Longitudinal brain magnetic resonance imaging revealed progressive brain atrophy with temporal dominance, non-progressive cerebellar atrophy, and some non-specific white matter intensities. Brain single photon emission computed tomography showed hypoperfusion in the bilateral temporal lobes and cerebellar hemispheres. Clinical exome sequencing revealed the presence of a heterozygous nonsynonymous variant (NM_007126.5, c.265C>T; p.Arg89Trp) in the valosin-containing protein gene, which was absent in the 1000 Genomes Project, the Exome Aggregation Consortium Database, and the Genome Aggregation Database, and was predicted to be "damaging" by PolyPhen-2 and "deleterious" using SIFT with a Combined Annotation Dependent Depletion score of 35. We also confirmed the absence of this variant in 505 Japanese control subjects. Therefore, we concluded that the variant in the valosin-containing protein gene was responsible for the symptoms of this patient.
Retraining and Nutritional Strategy of an Endurance Master Athlete Following Hip Arthroplasty: A Case Study
Authors: Julien Louis, Eve Tiollier, Antonia Lamb, Bastien Bontemps, Jose Areta, Thierry Bernard
Journal: Front Sports Act Living (2020)
Keywords: aging, body composition, energy availability, macronutrients, osteoarthritis, performance, triathlon

Retraining and resuming competition following surgery is challenging for athletes due to the prolonged period of reduced physical activity and subsequent alteration of body composition and physical performance. This is even more challenging for master athletes who endure the additional effect of aging. Within this context, the purpose of this study was to evaluate the feasibility and benefits that evidence-based nutritional and training recommendations could have on the time course of reconditioning and retraining following hip arthroplasty in an endurance master triathlete. During 38 weeks (from 6 weeks prior to surgery through to the return to competition in week 32), the athlete was provided with detailed training and nutritional recommendations. Dietary intake (via the remote food photographic method), body composition (via DXA), peak oxygen uptake (VO2peak), peak power output (PPO), cycling efficiency (GE), and energy availability (EA) were assessed 6 weeks pre- and 8, 12, 18, 21, and 25-weeks post-surgery. Training load was quantified (via TRIMP score and energy expenditure) daily during the retraining. Total body mass increased by 8.2 kg (attributable to a 3.5-4.6 kg increase in fat mass and lean mass, respectively) between week -6 and 8 despite a reduction in carbohydrate (CHO) intake post-surgery (<3.0 g/kg body mass/day). This was accompanied with a decrease in VO2peak, PPO, and GE due to a drop in training load. From week 7, the athlete resumed training and was advised to increase gradually CHO intake according to the demands of training. Eventually the athlete was able to return to competition in week 32 with a higher PPO, improved VO2peak, and GE. Throughout retraining, EA was maintained around 30 kcal/kg Lean Body Mass/day, protein intake was high (~2 g/kg/day) while CHO intake was periodized. Such dietary conditions allowed the athlete to maintain and even increase lean mass, which represents a major challenge with aging. Data reported in this study show, for the first time, the conditions required to recover and return to endurance competition following hip surgery.
Ameloblastic Carcinoma in a 2-Year-Old Child: A Case Report and Review of the Literature
Authors: Ngoc Bao Vu, Ngoc Tuyen Le, Risa Chaisuparat, Pasutha Thunyakitpisal, Ngoc Minh Tran
Journal: Case Rep Dent (2020)
MeSH terms: Case Reports

Ameloblastic carcinoma (AC) is a rare malignant odontogenic tumor in pediatric patients, only 22 cases have been reported in literature since 1932. We present an extremely rare case in which AC occurred in a 2-year-old girl, who had a tumor in the right mandible. Radiographic findings showed a multilocular, poorly defined, and mixed radiolucent-radiopaque lesion in the region of teeth #84 to #85, with bone and tooth root resorption. Computed tomography revealed buccal cortex destruction, tumor infiltration of soft tissue, and enlarged nodes. Incisional biopsy showed histomorphological features of AC. Immunohistochemical analysis exhibited a positive result for Cytokeratin (CK) 19 and overexpression of p53 and Ki67. The patient underwent right hemimandibulectomy and neck dissection. The final pathology was consistent with the initial diagnosis of AC. The patient did not exhibit signs of recurrence or metastasis within 2 years postoperatively. Given the rarity of this disease and the age of the patient, this report constitutes a valuable contribution to the current literature.
Case Report: Primary Diffuse Leptomeningeal Oligodendrogliomatosis in a Young Adult Cat
Authors: Elisa Chludzinski, Christina Puff, Jürgen Weber, Marion Hewicker-Trautwein
Journal: Front Vet Sci (2021)
Keywords: cns, olig2, pdlg, feline, glioneuronal tumor, meninges, oligodendroglioma
MeSH terms: Case Reports

A 2-year-old cat was presented with progressive ataxia. Despite treatment the animal died. Pathomorphological examination revealed a widespread leptomeningeal mass at all levels of the central nervous system accentuated on the cervical spinal cord and the medulla oblongata without presence of a primary intraaxial tumor. The neoplasm was mainly composed of round, uninucleate cells with hyperchromatic nuclei, which were immunopositive for OLIG2, doublecortin, MAP2, synaptophysin, and vimentin, indicating components of both oligodendroglial and neuronal differentiation. Ki-67 immunohistochemistry indicated a high proliferation activity of the neoplasm. Few GFAP positive and Iba-1 positive cells were interpreted as reactive astrocytes and macrophages or microglia, respectively. The tumor was immunonegative for CD3, CD20, PAX5, MUM1, pan-cytokeratin, S100, NSE, p75NTR, NeuN and periaxin. These findings led to the diagnosis of primary diffuse leptomeningeal oligodendrogliomatosis. This is the first reported case of this entity in a young cat, which should be considered as a differential diagnosis for diffuse subarachnoidal round cell infiltrates.
Diffuse Alveolar Hemorrhage Secondary to Acute Mitral Regurgitation
Authors: Fouad Khalil, Jaswanth R Jasti, Mohammad Ali, Huthayfa Ateeli
Journal: Methodist Debakey Cardiovasc J (2022)
Keywords: acute mitral regurgitation, diffuse alveolar hemorrhage, echocardiography, mitral valve surgery
MeSH terms: Mitral Valve Insufficiency / diagnostic imaging, Mitral Valve Insufficiency / etiology, Mitral Valve Insufficiency / surgery, Mitral Valve Prolapse / surgery, Case Reports, Acute Disease, Chordae Tendineae / surgery, Hemorrhage / diagnostic imaging, Hemorrhage / etiology, Hemorrhage / surgery, Humans, Male, Mitral Valve / diagnostic imaging, Mitral Valve / surgery

We describe acute mitral valve regurgitation in a young, previously healthy male patient presenting with diffuse alveolar hemorrhage. The patient initially presented with acute respiratory failure with refractory arterial hypoxemia despite mechanical ventilation. Bronchoscopy showed diffuse alveolar hemorrhage. The patient quickly developed cardiogenic shock, which required vasopressor infusion. Echocardiography showed severe mitral regurgitation and myxomatous mitral valve with anterior leaflet prolapse along with chordal rupture involving the anterior leaflet, which was flail. An Impella device was emergently placed, and the patient underwent mitral valve replacement with subsequent quick resolution of all symptoms.
Affective Switch Associated With Oral, Low Dose Ketamine Treatment in a Patient With Treatment Resistant Bipolar I Depression. Case Report and Literature Review
Authors: Alina Wilkowska, Łukasz Szałach, Jakub Słupski, Aleksandra Wielewicka, Małgorzata Czarnota, Maria Gałuszko-Węgielnik, Mariusz S Wiglusz, Wiesław J Cubała
Journal: Front Psychiatry (2020)
Keywords: affective switch, bipolar i depression, ketamine, oral and subanaesthetic, treatment resistance
MeSH terms: Case Reports

There is a growing evidence for the rapid and robust antidepressive effect of ketamine in unipolar and bipolar treatment resistant depression although evidence for the risk of affective switch is still limited. This case presents bipolar I disorder patient with treatment resistant depressive episode experiencing a switch to manic episode with mixed features shortly after receiving eight subanaesthetic doses of oral ketamine as an add-on treatment preceded by 2-day period of manic symptoms.
Case Report: Two Cases of Abdominal Aggressive Fibromatosis That Mimicked Abdominal Wall Endometriosis and Review of Literature
Authors: Xin Chen, Yuan Wang, Haiyuan Liu, Honghui Shi, Qingbo Fan, Jinghe Lang
Journal: Front Med (Lausanne) (2021)
Keywords: abdominal wall mass, aggressive fibromatosis, differential diagnosis, endometriosis, periodic symptoms
MeSH terms: Case Reports

Background: Abdominal aggressive fibromatosis (AF) can be confounded with abdominal wall endomentriosis (AWE) because they share considerable similarity. Because of the different patient prognoses and treatment strategies available, accurate pre-operative diagnosis is important. Case Presentation: We here report two cases of abdominal masses presenting as periodic changes in tumor sizes, which occurred in correlation with the menstrual cycle. The clinical findings were highly suggestive of AWE. However, the final pathological findings revealed AF. The estrogen receptor and progesterone receptor expressions were negative in the two cases. The differences between the two diseases have been discussed in detail. Conclusion: A diagnosis of AWE should be scrutinized closely if the patient does not complain of cyclic pain. Fine-needle aspiration cytology is a suitable tool for pre-operative evaluation.
Synchronous invasive ductal carcinoma of the breast and clear cell renal carcinoma with rare presentation and behaviour: a case report with a literature review
Authors: Mona Ali Hassan, Najla Fakhrudiin, Fadi Farhat
Journal: Ecancermedicalscience (2020)
Keywords: clear cell renal cell carcinoma (rcc), invasive ductal carcinoma, synchronous tumours, syncytial-type giant cells
MeSH terms: Case Reports

The presence of two or more primary tumours is a relatively uncommon phenomenon. Recently with the improvement of diagnostic modalities, such cases are increasingly reported in the literature. This paper presents a rare case of synchronous breast and renal tumour with unusual features including RCC metastasis to the duodenum and stomach, rapid recurrence of the tumour at the nephrectomy site, rapid renal cell carcinoma growth rate and the rare presence of syncytial-type giant cells in the renal cell tumour.
Unusual case of spontaneous hemopneumothorax in a Tunisian pulmonology department: a case report
Authors: Rahma Ben Jazia, Jihene Ayachi, Farouk Chatbouri, Ameni Kacem, Amira Faidi, Dhouha Ben Braiek, Anis Maatallah
Journal: Pan Afr Med J (2021)
Keywords: spontaneous hemopneumothorax, case report, thoracic drainage, thoracoscopic surgery
MeSH terms: Hemopneumothorax / therapy, Shock, Hemorrhagic / therapy, Thoracic Surgery, Video-Assisted / methods, Case Reports, Adult, Drainage / methods, Electrocoagulation / methods, Hemopneumothorax / diagnosis, Humans, Male, Shock, Hemorrhagic / diagnosis, Tunisia

Spontaneous hemopneumothorax is a rare encountered entity in clinical practice. It can be life threatening, so a prompt diagnosis and therapeutic intervention are required. We report a case of a right spontaneous hemopneumothorax in a 31-year-old man, complicated with hemorrhagic shock. Conservative therapy with only thoracic drainage with close monitoring of outflow and hemodynamic parameters was performed. In front of hemodynamic instability, an emergency video-assisted thoracoscopic surgery was performed. An apical bulla adhering to the parietal pleura has been identified as the source of the bleeding. The resection of the bullae and electrocauterization of the bleeding adhesion were effectuated. The hemostasis was easily achieved. The actual experience suggests that video-assisted thoracoscopic surgery should be performed as soon as possible after the diagnosis of spontaneous hemopneumothorax. Indeed, conservative therapy with chest drainage should only be performed as bridge to recovery for the stabilization before the video-assisted thoracoscopic surgery.
Case report: An unusual case of multisite embolism in a patient with adenovirus pneumoniae
Authors: Jia-Yu Mao, Hua Zhao, Na Cui
Journal: Front Med (Lausanne) (2022)
Keywords: adenovirus, cerebral embolism, left ventricular thrombus, multisite embolism, pneumonia
MeSH terms: Case Reports

A 36-year-old previous healthy man presented with fever, cough, and dyspnea associated with adenovirus pneumonia. The patient developed left ventricular thrombus, pulmonary embolism and multisite embolism of undetermined etiology. Adenovirus is a rare cause of thrombotic events in immunocompetent individuals, calling for further studies for early diagnosis and management.
The challenges of urgent radical sigmoid colorectal cancer resection in a COVID-19 patient: A case report
Authors: Zhengbin Huang, Jijun Yan, Tian Jin, Xiufang Huang, Guoxiang Zeng, Michael L Adashek, Xinhai Wang, Jieping Li, Dan Zhou, Zhengqi Wu
Journal: Int J Surg Case Rep (2020)
Keywords: covid-19, colorectal cancer resection, negative pressure, surgical risk, viral transmission
MeSH terms: Case Reports

Introduction:
The COVID-19 pandemic presents a unique global health challenge further complicating surgical management of COVID-19 positive patients due to a lack of published literature.
Case:
Within we discuss a 48-year-old Chinese man, presenting with acute gastrointestinal obstruction due to sigmoid colonic mass. The patient was screened and tested positive for COVID 19 due to his employment in Wuhan, China at the COVID-19 pandemic epicenter. The patient was subsequently taken for open sigmoid colonic resection, however the case presented multiple challenges due to the patient's COVID-19 positive status.
Discussion:
The challenges of surgical management of COVID-19 positive patients exist are four-fold. First the unknown efficacy of pre-surgical risk stratification in COVID-19 positive patients, second the risk of aerosolized COVID-19 transmission during intubation for surgery, third the risk of fecal COVID-19 transmission to surgical staff during large bowel resection, and fourth the post-operative challenges of caring for COVID-19 positive patients.
Conclusion:
Further research is needed into these topics, as well as the medical management of COVID-19 surgical patients.
Aspergillus niger otomycosis in a child with chronic otitis externa
Authors: Christoffel J Opperman, Julie Copelyn
Journal: S Afr J Infect Dis (2020)
Keywords: aspergillus niger, antifungal, chronic otitis externa, otomycosis, otorrhea

Aspergillus niger is commonly associated with otomycosis. Currently, local guidelines lack appropriate guidance on the definitive treatment and management when the fungus is identified. The repeated use of antibiotics in children with refractory episodes of otitis externa is concerning and may contribute towards otomycosis. This case report highlights the importance of a well-collected pus swab from the ear and suggests a topical antifungal to use in paediatric patients with Aspergillus niger otomycosis.
COVID-19 presenting as an exanthematic disease: a case report
Authors: Matheus Todt Aragão, Eusébio Lino Dos Santos Júnior, Tainah Dantas Ataide, José Seabra Alves Neto, Nathalia Vasconcelos Barroso Todt Aragão
Journal: Rev Soc Bras Med Trop (2020)
MeSH terms: Coronavirus Infections / diagnosis, Exanthema / virology, Pneumonia, Viral / diagnosis, Case Reports, COVID-19, Child, Preschool, Coronavirus Infections / complications, Female, Humans, Pandemics, Pneumonia, Viral / complications

Coronavirus disease (COVID-19) is caused by SARS-CoV-2 and has spread rapidly and caused a global pandemic. Knowledge about clinical and laboratory manifestations in the pediatric population is necessary to guide and monitor such patients. A 3-year-old female patient diagnosed with COVID-19 presented with high fever. After defervescence, she experienced a maculopapular rash that worsened by the sixth day of the disease with self-limited evolution without relevant laboratory changes. The identification of rashes in children with COVID-19 is an unusual and important condition that must be recognized in view of the high transmissibility shown.
Designing mobile health to align with the social determinants of health
Authors: Courtney C Rogers, Sophia S Jang, Whitney Tidwell, Sarah Shaughnessy, Juliane Milburn, Fern R Hauck, Ishan C Williams, Rupa S Valdez
Journal: Front Digit Health (2023)
Keywords: health inequities, health informatics, maternal health, patient ergonomics, social determinants of health

The maternal health crisis in the United States is becoming increasingly worse, with disparities continuing to escalate among marginalized populations. mHealth can contribute to addressing the Social Determinants of Health (SDOH) that produce inequities in maternal morbidity and mortality. Reducing inequities through mHealth can be achieved by designing these technologies to align with SDOH. As mHealth developed to support maternal health has primarily supported the extension of clinical care, there is an opportunity to integrate frameworks and methods from human factors/ergonomics and public health to produce thorough comprehension of SDOH through intentional partnerships with marginalized populations. Potential for this opportunity is presented through a case study derived from a community-based participatory research process focused on transportation access to maternal health services. Through multi-faceted, interdisciplinary, and community-based approaches to designing mHealth that attends to the systemic factors that generate and escalate inequities, improvements in the maternal health crisis could be realized.
Network Analysis of Outpatients to Identify Predictive Symptoms and Combinations of Symptoms Associated With Positive/Negative SARS-CoV-2 Nasopharyngeal Swabs
Authors: Hervé Spechbach, Frédérique Jacquerioz, Virginie Prendki, Laurent Kaiser, Mikaela Smit, Alexandra Calmy, François Chappuis, Idris Guessous, Julien Salamun, Stéphanie Baggio
Journal: Front Med (Lausanne) (2021)
Keywords: covid-19, sars-cov-2, clinical features, combination of symptoms, diagnosis, outpatient, predictive symptoms

Background: Limited data exist on early predictive clinical symptoms or combinations of symptoms that could be included in the case definition of coronavirus disease 2019 (COVID-19), particularly for mild-to-moderate disease in an outpatient setting. Methods: A cohort study of individuals presenting with clinical symptoms to one of the largest dedicated networks of COVID-19 test centers in Geneva, Switzerland, between March 2 and April 23, 2020. Individuals completed a symptom questionnaire, received a nurse-led check-up, and nasopharyngeal swabs were obtained. An analysis of clinical features predicting the positivity and negativity of the SARS-CoV-2 RT-PCR test was performed to determine the relationship between symptoms and their combinations. Results: Of 3,248 patients included (mean age, 42.2 years; 1,504 [46.3%] male), 713 (22%) had a positive RT-PCR; 1,351 (41.6%) consulted within 3 days of symptom onset. The strongest predictor of a positive SARS-CoV-2 RT-PCR was anosmia, particularly in early disease, followed by fever, myalgia, and cough. Symptoms predictive of a negative test were breathing difficulties, abdominal symptoms, thoracic pain and runny nose. Three distinct networks of symptoms were identified, but did not occur together: respiratory symptoms; systemic symptoms related to fever; and other systemic symptoms related to anosmia. Conclusions: Symptoms and networks of symptoms associated with a positive/negative SARS-CoV-2 RT-PCR are emerging and may help to guide targeted testing. Identification of early COVID-19-related symptoms alone or in combination can contribute to establish a clinical case definition and provide a basis for clinicians and public health authorities to distinguish it from other respiratory viruses early in the course of the disease, particularly in the outpatient setting.
A Rare Cause of Medial Thigh Pain: Does Point-of-Care Ultrasound Scan Have a Role in the Diagnosis of Obturator Hernia in the Emergency Room?
Authors: Yakub W Ibrahim, Philip Tabi, Abdurrahman Yusuf
Journal: Cureus (2023)
Keywords: accident and emergency, emergency room (er), medial thigh pain, obturator hernia, point-of-care ultrasound (pocus), thigh pain
MeSH terms: Case Reports

Obturator hernia describes the protrusion of the intra-abdominal viscus through the obturator foramen. It accounts for 0.05-1.4% of all hernias. We present a case of a 72-year-old female, with right-sided inner thigh pain of sudden onset who was subsequently diagnosed with an obturator hernia in the emergency room with point-of-care ultrasound (POCUS). She subsequently had laparoscopic surgery and improved without complications.