OpenMed/multicare-articles huggingface dataset:
Absence of Left Circumflex Artery: A Rare Congenital Disorder of Coronary Arteries
Authors: Saad Ullah, Muzammil Khan, Noman Ahmed Jang Khan, Hassan Zeb, Roshan Patel
Journal: Case Rep Cardiol (2017)
MeSH terms: Case Reports

Congenital absence of left circumflex artery is a rare occurrence and very few cases have been reported in literature. It is a benign incidental finding; however some patients present with sudden onset chest pain mimicking acute coronary syndrome often resulting in detection of this rare anatomy on coronary angiography. Coronary computed tomography angiography is a relatively new noninvasive imaging modality which can be used to confirm this suspicion and diagnose this unique morphology reliably.
Successful rituximab treatment of TAFRO syndrome with pathological findings of glomerular endothelial damage
Authors: Yuhei Noda, Yosuke Saka, Akihisa Kato, Tetsushi Mimura, Tomohiko Naruse
Journal: Clin Nephrol Case Stud (2018)
Keywords: adamts13, castleman disease, tafro syndrome, rituximab, thrombotic microangiopathy
MeSH terms: Case Reports

Thrombocytopenia, anasarca, fever, renal insufficiency, and organomegaly constitute TAFRO syndrome, a variant of Castleman disease. We describe a patient with TAFRO syndrome who underwent renal biopsy. A 79-year-old woman was referred to us with fever and leg edema. She also had thrombocytopenia, pleural effusion, ascites, and acute kidney injury, and was admitted to our hospital. Her response to initial therapy with corticosteroid and cyclosporine was poor. Therefore, she received 4 doses of rituximab per week, which resulted in clinical improvement, including recovery of thrombocytopenia. A kidney biopsy thereafter showed diffuse, global glomerular endothelial injury indicating thrombotic microangiopathy (TMA). These findings suggested that TMA is associated with the thrombocytopenia and renal insufficiency of TAFRO syndrome.
Endometrial Carcinoma in a 26-Year-Old Patient with Bardet-Biedl Syndrome
Authors: Olga Grechukhina, Gregory M Gressel, William Munday, Serena Wong, Alessandro Santin, Alla Vash-Margita
Journal: Case Rep Obstet Gynecol (2018)
MeSH terms: Case Reports

Background:
Bardet-Biedl Syndrome (BBS) is a rare genetic condition characterized by cognitive impairment, dysmorphism, central obesity, and diabetes mellitus, among other abnormalities. Although some of these characteristics are known independent risk factors for endometrial cancer and its precursors, the association between BBS and endometrial cancer is underreported.
Case:
We present the case of a 26-year-old patient with BBS and clinical signs of hyperestrogenism who presented with abnormal uterine bleeding and was diagnosed with endometrioid adenocarcinoma. She ultimately underwent definitive surgical treatment with hysterectomy and bilateral salpingectomy.
Conclusions:
This is one of only a few reports in the literature describing the association of BBS and endometrioid endometrial adenocarcinoma. Given the association of BBS with risk factors for hyperestrogenism such as truncal obesity, hyperinsulinemia, and ovulatory dysfunction, providers should have increased suspicion for endometrial cancer in young patients with BBS and abnormal uterine bleeding.
Severe leptospirosis with multiple organ failure successfully treated by plasma exchange and high-volume hemofiltration
Authors: Vincent Bourquin, Belén Ponte, Bernard Hirschel, Jérôme Pugin, Pierre-Yves Martin, Patrick Saudan
Journal: Case Rep Nephrol (2011)
MeSH terms: Case Reports

Background. Leptospirosis is a spirochetal zoonosis with complex clinical features including renal and liver failure. Case report. We report the case of a Swiss fisherman presenting with leptospirosis. After initial improvement, refractory septic shock and severe liver and kidney failure developed. The expected mortality was estimated at 90% with clinical scores. The patient underwent plasma exchanges and high-volume hemofiltration (HVHF) with complete recovery of hepatic and kidney functions. Discussion. Plasma exchanges and HVHF may confer survival benefit on patients with severe leptospirosis, refractory septic shock, and multiple-organ failure.
Nanoparticle albumin-bound paclitaxel in a patient with locally advanced breast cancer and taxane-induced skin toxicity: a case report
Authors: Beatriz Cirauqui Cirauqui, Vanesa Quiroga García, Clara Lezcano Rubio, Maria Iciar Pascual Miguel, Laia Capdevila Riera, Nuria Pardo Aranda, Sara Vizcaya Martín, Antonio Mariscal Martínez, Clara Rodríguez Caruncho, Mireia Margelí Vila
Journal: J Med Case Rep (2014)

Introduction:
Taxanes have demonstrated effectiveness in the treatment of breast cancer, the most common type of cancer in women. The toxicity profile of taxanes (including skin toxicities) induces dose adjustment, delay, or discontinuation, which prevents a sufficient dose intensity to achieve a response. Nanoparticle albumin-bound paclitaxel, a solvent-free form of paclitaxel, prevents toxicities and reduces the pharmacokinetic interferences between paclitaxel and other drugs.
Case presentation:
We describe the case of a 55-year-old Caucasian woman with locally advanced breast cancer treated with neoadjuvant therapy who developed secondary skin toxicity due to delayed hypersensitivity to taxanes. She received Adriamycin® (doxorubicin), cyclophosphamide and docetaxel and developed toxicity that promoted treatment delay and a switch to weekly paclitaxel. After the third and fourth weeks of treatment, paclitaxel toxicities also induced treatment delay and paclitaxel was switched to nanoparticle albumin-bound paclitaxel. She completed the five planned nanoparticle albumin-bound paclitaxel cycles with acceptable tolerability (including persistent grade 2 neuropathy) and without dose delay or adjustments. Clinical response was achieved although pathological response was not good.
Conclusions:
Nanoparticle albumin-bound paclitaxel treatment is a good option for patients with breast cancer with taxanes-related skin toxicity. This drug allows the treatment to be completed with acceptable tolerance in our case.
Perception-based analysis of climate change effect on forest-based livelihood: The case of Vhembe District in South Africa
Authors: Chidiebere Ofoegbu, Paxie W Chirwa, Joseph Francis, Folarannmi D Babalola
Journal: Jamba (2016)

Forests are vulnerable to climate change and are also major sources of livelihood for many rural households in Africa. This study examines rural people's perceptions of climate change impacts on forest-based livelihoods using rural communities of Vhembe District in South Africa as a case study. The study was based on the principles of perceived impact-based assessment, and sustainable livelihoods framework. Using the stratified proportionate random sampling procedure in combination with weighted Enumeration Area for the selected communities, 366 households were chosen and interviewed. Data analysis involved computing frequencies and conducting the Chi-square, binomial tests and binary logistic regression analysis. The respondents identified erratic rainfall, extreme temperature, extreme drought and flooding as key climatic events in their community. But not all identified key climatic events were perceived to constitute risk to forest products and forest-based livelihood. Only extreme drought was indicated to constitute risk to availability of forest products. In addition, the binary logistic regression showed a significant difference (p < 0.05) in the perceived risk of climate change to the availability of essential forest products across the three municipalities. Hence the need for forest development initiatives that target vulnerable forest products per community as a means of enhancing resilience of forest-based livelihood to climate change impacts in rural community development in South Africa.
Rectal Atresia and Congenital Hypothyroidism: An Association or Coincidence?
Authors: Feride Mehmetoğlu
Journal: European J Pediatr Surg Rep (2018)
Keywords: congenital hypothyroidism, posterior sagittal approach, rectal atresia
MeSH terms: Case Reports

Rectal atresia is a rare anorectal malformation, and its association with other anomalies is even more rare. This study presents a unique case of co-twin in which the surviving newborn male underwent surgery due to rectal atresia. Newborn screening tests identified congenital hypothyroidism. The surgical treatment consisted of three stages and thyroid hormones were replaced.
Development of Digital Twins to Optimize Trauma Surgery and Postoperative Management. A Case Study Focusing on Tibial Plateau Fracture
Authors: Kévin Aubert, Arnaud Germaneau, Michel Rochette, Wenfeng Ye, Mathieu Severyns, Maxime Billot, Philippe Rigoard, Tanguy Vendeuvre
Journal: Front Bioeng Biotechnol (2021)
Keywords: digital twin, finite element analysis, minimally invasive surgery, personalized medicine, tibial fracture

Background and context: Surgical procedures are evolving toward less invasive and more tailored approaches to consider the specific pathology, morphology, and life habits of a patient. However, these new surgical methods require thorough preoperative planning and an advanced understanding of biomechanical behaviors. In this sense, patient-specific modeling is developing in the form of digital twins to help personalized clinical decision-making. Purpose: This study presents a patient-specific finite element model approach, focusing on tibial plateau fractures, to enhance biomechanical knowledge to optimize surgical trauma procedures and improve decision-making in postoperative management. Study design: This is a level 5 study. Methods: We used a postoperative 3D X-ray image of a patient who suffered from depression and separation of the lateral tibial plateau. The surgeon stabilized the fracture with polymethyl methacrylate cement injection and bi-cortical screw osteosynthesis. A digital twin of the patient's fracture was created by segmentation. From the digital twin, four stabilization methods were modeled including two screw lengths, whether or not, to inject PMMA cement. The four stabilization methods were associated with three bone healing conditions resulting in twelve scenarios. Mechanical strength, stress distribution, interfragmentary strains, and fragment kinematics were assessed by applying the maximum load during gait. Repeated fracture risks were evaluated regarding to the volume of bone with stress above the local yield strength and regarding to the interfragmentary strains. Results: Stress distribution analysis highlighted the mechanical contribution of cement injection and the favorable mechanical response of uni-cortical screw compared to bi-cortical screw. Evaluation of repeated fracture risks for this clinical case showed fracture instability for two of the twelve simulated scenarios. Conclusion: This study presents a patient-specific finite element modeling workflow to assess the biomechanical behaviors associated with different stabilization methods of tibial plateau fractures. Strength and interfragmentary strains were evaluated to quantify the mechanical effects of surgical procedures. We evaluate repeated fracture risks and provide data for postoperative management.
The first case of Mycobacterium vaccae sepsis in a non-Hodgkin lymphoma patient: biological understandings and clinical consequencies
Authors: Pierluigi Congedo, Angelo Gardellini, Lucia Corich, Angela Papa, Mauro Turrini
Journal: Access Microbiol (2020)
Keywords: crbsi, lymphoma, maldi-tof, mycobaterium vaccae, sepsis
MeSH terms: Case Reports

Mycobacterium vaccae is a rapidly growing nonpathogenic species of the Mycobacteriaceae family of bacteria that can cause pulmonary and disseminated disease in particular in immunocompromised individuals. Here we describe a first case of matrix-assisted laser desorption/ionization-time of flight (MALDI-TOF) mass-spectrometry (MS) identification of this pathogen in a patient with non-Hodgkin's lymphoma during chemoimmunotherapy salvage treatment, and its impact on clinical decision making.
Giant composite pheochromocytoma and gastrointestinal stromal tumor in a patient with neurofibromatosis: A case report
Authors: Soykan Arikan, Cihad Tatar, Ali Emre Nayci, Feyzullah Ersoz, Mehmet Baki Dogan, Feray Gunver
Journal: North Clin Istanb (2021)
Keywords: gastrointestinal stromal tumor, neurofibromatosis, pheochromocytoma
MeSH terms: Case Reports

A 54-year-old male was admitted to our department with neurofibromatosis and hypertension. During his examination, a mass was detected in the abdomen, and he was transferred to a surgical clinic. At the first examination of the patient, extensive café-au-lait spots and granulomas were detected on the body and the mass occupying right abdomen quadrant was palpable. The patient's medical history indicated that he had hypertension for almost a decade. The patient also stated that nodules on the body existed from his earliest recollection and he had relatives with neurofibromatosis. The patient was taken to a surgical operation. A mass with 30×23 cm in size was removed. The area of the nodular structure, with 0.5 cm in diameter, in the stomach serosa was also removed. The tumor was composed of phaeochromocytoma in the larger spaces and ganglioneuromas in the relatively narrow spaces. The nodular area removed in gastric serosa was reported as a very low-risk gastrointestinal stromal tumor. Apart from this rare combination, adrenal mass removed from the patient was considerably larger than the masses in the literature until now. Therefore, we aimed to present this rare case with a literature background.
Soft-Tissue Sarcoma following Traumatic Injury: Case Report and Review of the Literature
Authors: Yael Bar, Ofer Merimsky
Journal: Front Oncol (2017)
Keywords: inflammation, injury, metal fragments, radiation, rhabdomyosarcoma, soft-tissue sarcoma, wound
MeSH terms: Case Reports

Soft-tissue sarcomas (STSs) are a heterogeneous group of tumors, which accounts for 1-2% of adult cancers worldwide. Despite quite a few reports on traumatic events followed by STS formation, the link between the two events remains a point of controversy. In this paper, we present the case of a young patient who had a rhabdomyosarcoma in the lower extremity, which had developed in the same location where the patient was wounded by a gunshot 9 years earlier. X-ray and CT scans clearly showed metal fragments in the area of sarcoma formation. The patient underwent neoadjuvant chemotherapy treatment, to which the tumor was, unfortunately, unresponsive. Therefore, the patient was referred to below-knee amputation of the injured leg. There are several possible etiological factors for sarcoma development in this patient, including tissue damage and inflammation, as well as the presence of metal fragments in the tissue and the limb's exposure to radiation during multiple imaging tests. Here, we will discuss the potential influence wielded by the injury itself, as well as its complications and its medical management on the formation of the sarcoma, in light of the current literature.
Case report: Diabetic muscle infarction with diabetic ketoacidosis: A rare complication of diabetes
Authors: Jun Tang, Li Sun, Qi Huang, Yu-Wen Wu, Xin Li, Hao-Hua Deng, Jia-Zhong Sun, Zhe Dai, Yan-Cheng Xu
Journal: Front Endocrinol (Lausanne) (2023)
Keywords: complication, diabetic ketoacidosis, diabetic muscle infarction, pathogenesis, treatment
MeSH terms: Diabetes Mellitus, Type 1 / complications, Diabetes Mellitus, Type 1 / pathology, Diabetic Ketoacidosis / complications, Case Reports, Research Support, Non-U.S. Gov't, Adult, Female, Humans, Infarction / diagnosis, Infarction / etiology, Infarction / pathology, Leg, Muscle, Skeletal / pathology, Young Adult

Background:
Diabetic muscle infarction (DMI), which is also referred to as diabetic myonecrosis, is a rare and long-term complication of poorly controlled diabetes mellitus, while we found that acute diabetes decompensation, such as diabetic ketoacidosis (DKA), could also stimulate the occurrence and development of DMI.
Case presentation:
A 23-year-old woman with type 1 diabetes presented with a 10-day history of nausea, vomiting, pain, and swelling of her left leg. Her urine ketone test was positive. The 3-beta-hydroxybutyrate and leukocyte counts and creatine kinase levels were elevated. Magnetic resonance imaging of the left thigh revealed extensive deep tissue oedema and an increase in the T2 signal in the involved muscles. Once the diagnosis of DMI was made, she was managed with rest, celecoxib, clopidogrel and aggressive insulin therapy. Three months after treatment, the patient reported complete resolution of symptoms.
Conclusion:
DMI is a rare DM complication with a high recurrence rate, commonly presenting with chronic complications, while our case report shows that acute diabetes decompensation, such as DKA, can stimulate the occurrence and development of DMI. Timely diagnosis and appropriate treatment could shorten the recovery time.
Autosomal dominant optic neuropathy and sensorineual hearing loss associated with a novel mutation of WFS1
Authors: Barend F T Hogewind, Ronald J E Pennings, Frans A Hol, Henricus P M Kunst, Elisabeth H Hoefsloot, Johannes R M Cruysberg, Cor W R J Cremers
Journal: Mol Vis (2010)
MeSH terms: Genes, Dominant / genetics, Hearing Loss, Sensorineural / complications, Hearing Loss, Sensorineural / genetics, Membrane Proteins / genetics, Mutation / genetics, Optic Nerve Diseases / complications, Optic Nerve Diseases / genetics, Adult, Aged, 80 and over, Amino Acid Sequence, Base Sequence, Conserved Sequence, DNA Mutational Analysis, Diabetes Mellitus / genetics, Evolution, Molecular, Family, Female, Genetic Association Studies, Genetic Predisposition to Disease, Hearing Loss, Sensorineural / physiopathology, Hearing Tests, Humans, Male, Membrane Proteins / chemistry, Middle Aged, Molecular Sequence Data, Ocular Physiological Phenomena, Optic Nerve Diseases / physiopathology, Pedigree, Phenotype, Young Adult, Membrane Proteins, wolframin protein

Purpose:
To describe the phenotype of a novel Wolframin (WFS1) mutation in a family with autosomal dominant optic neuropathy and deafness. The study is designed as a retrospective observational case series.
Methods:
Seven members of a Dutch family underwent ophthalmological, otological, and genetical examinations in one institution. Fasting serum glucose was assessed in the affected family members.
Results:
All affected individuals showed loss of neuroretinal rim of the optic nerve at fundoscopy with enlarged blind spots at perimetry. They showed a red-green color vision defect at color vision tests and deviations at visually evoked response tests. The audiograms of the affected individuals showed hearing loss and were relatively flat. The unaffected individuals showed no visual deviations or hearing impairment. The affected family members had no glucose intolerance. Leber hereditary optic neuropathy (LHON) mitochondrial mutations and mutations in the Optic atrophy-1 gene (OPA1) were excluded. In the affected individuals, a novel missense mutation c.2508G>C (p.Lys836Asn) in exon 8 of WFS1 was identified.
Conclusions:
This study describes the phenotype of a family with autosomal dominant optic neuropathy and hearing impairment associated with a novel missense mutation in WFS1.
Vertebral Tongue-Like Deformity in Mucopolysaccharidosis VI
Authors: Michiel Landen, François Eyskens, Filip Vanhoenacker
Journal: J Belg Soc Radiol (2021)
Keywords: bullet-shaped vertebrae, gibbus, mucopolysaccharidosis, thoracolumbar hyperkyphosis, tongue-like vertebrae
MeSH terms: Case Reports

Teaching point: Defective development of the anterior portion of the vertebral body at the thoracolumbar junction may be an important imaging clue in the diagnosis of mucopolysaccharidosis.
Reversible Myocardial Injury and Intraventricular Thrombus Associated with Aluminium Phosphide Poisoning
Authors: Abdelkader Jalil El Hangouche, Hala Fennich, Oumaima Alaika, Taoufiq Dakka, Zaineb Raissouni, Latifa Oukerraj, Nawal Doghmi, Mohamed Cherti
Journal: Case Rep Cardiol (2017)
MeSH terms: Case Reports

Aluminium phosphide (ALP) is widely used as a fumigant pesticide. In case of ALP poisoning, it is responsible for myocardial dysfunction, related to toxic myocarditis, and hemodynamic disorders. We report a case of a 28-year-old female who had intentionally ingested ALP and was admitted with cardiogenic shock. The transthoracic echocardiography (TTE) at the time of admission showed severe global myocardial hypokinesia with the presence of a giant left ventricular thrombus. Cardiovascular magnetic resonance (CMR) revealed extensive toxic myocarditis with a left ventricular systolic dysfunction. All cardiac lesions were reversible after symptomatic treatment, within 6 months. We aim, by reporting this case, to evidence the complete reversibility of cardiac injury due to aluminium phosphide poisoning documented by transthoracic echocardiography and cardiovascular magnetic resonance.
Efficacy of Cyclosporine in the Induction and Maintenance of Remission in a Systemic Lupus Erythematosus Patient Presenting with Macrophage-Activating Syndrome
Authors: Franchesca Cruz-Pérez, Salvador Vilá, Grissel Ríos, Luis M Vilá
Journal: Case Rep Rheumatol (2018)
MeSH terms: Case Reports

Macrophage-activating syndrome (MAS) is a rare condition characterized by dysfunctional macrophage activation leading to overproduction of cytokines and phagocytosis of erythrocytes, leukocytes, and platelets. MAS is associated with infectious diseases, malignancies, and autoimmune rheumatic disorders. Herein, we present a 22-year-old Hispanic woman with SLE who was hospitalized because of a three-week history of fever, fatigue, polyarthralgia, nausea, and abdominal pain. Initial laboratories showed severe pancytopenia with marked elevation of liver enzymes and ferritin levels. Bone marrow biopsy revealed macrophages with engulfed erythrocytes consistent with MAS. The patient was treated with high-dose corticosteroids, intravenous immunoglobulins, and cyclosporine 3 mg/kg/day. She had a remarkable clinical response to this therapy. She was continued on cyclosporine, and prednisone dose was gradually decreased to 7.5 mg daily without experiencing recurrent disease. She remained in full clinical remission for 12 months. Our case, together with other reports, suggests that combination therapy with corticosteroids, immunoglobulins, and cyclosporine appears to be effective for patients with SLE-associated MAS. Furthermore, cyclosporine seems to be a good drug for maintenance of remission.
Two-dimensional power Doppler-three-dimensional ultrasound imaging of a cesarean section dehiscence with utero-peritoneal fistula: a case report
Authors: Pedro Royo, Manuel García Manero, Begoña Olartecoechea, Juan Luis Alcázar
Journal: J Med Case Rep (2009)

Introduction:
An imaging diagnosis after an iterative cesarean delivery is reviewed demonstrating a fine ultrasound-pathologic correlation.
Case presentation:
A 33-year-old woman (G3, P3) presented referring intense dysmenorrhea and intermenstrual spotting since her third cesarean delivery, 1 year before. A cesarean section dehiscence with utero-peritoneal fistula was diagnosed by transvaginal ultrasound.
Conclusion:
We can conclude that transvaginal two-dimensional power Doppler and three-dimensional ultrasound are highly accurate in detecting cesarean section dehiscence and uterine fistula.