OpenMed/multicare-articles huggingface dataset:
Diagnosing Paget-Schroetter Syndrome Using Point of Care Ultrasound (POCUS)
Authors: Khaled Taha, Tomás Breslin, John M Moriarty, Shammy Ali, Bernhard Louw
Journal: POCUS J (2022)
Keywords: pocus, paget-schroetter syndrome, subclavian vein thrombosis
MeSH terms: Case Reports

Paget-Schroetter Syndrome, or effort thrombosis, is a relatively rare disorder. It refers to axillary-subclavian vein thrombosis (ASVT) that is associated with strenuous and repetitive activity of the upper extremities 1. Anatomical abnormalities at the thoracic outlet and repetitive trauma to the endothelium of the subclavian vein are key factors in its initiation and progression. Doppler ultrasonography is the preferred initial test, but contrast venography is the gold standard for diagnosis 1, 2. Early diagnosis coupled with a multimodal treatment strategy is crucial for optimal outcomes. We present a case of a 21-year-old male in which point of care ultrasound (POCUS) expedited the diagnosis and subsequent early treatment of right subclavian vein thrombosis. He presented to our Emergency Department with acute swelling, pain and erythema of his right upper limb. He was promptly diagnosed to have thrombotic occlusion of the right subclavian vein using POCUS in our Emergency Department.
Cardiac Arrest during Transesophageal Echocardiogram (TEE) due to Acute Right Ventricular Failure
Authors: Cooper B Kersey, Fitsumberhan Medhane, Andrew M Pattock, Linda Liu, Gary Huang, Abhijit V Lele, Younghoon Kwon
Journal: Case Rep Cardiol (2021)
MeSH terms: Case Reports

The case of a patient who suffered cardiac arrest while undergoing transesophageal echocardiography (TEE) is presented here. A 75-year-old man with moderate right ventricular (RV) dysfunction and pulmonary hypertension became bradycardic and hypotensive after receiving propofol for procedural sedation. His profound hypotension ultimately led to a pulseless electrical activity (PEA) cardiac arrest. TEE images captured immediately prior to cardiac arrest show a severely dilated and hypokinetic RV, consistent with acute right ventricular failure. This case highlights the potentially fatal consequences of procedural sedation in patients with RV dysfunction and pulmonary hypertension.
T cell unresponsiveness in a pediatric cystic fibrosis patient: a case report
Authors: Rahul Kushwah, Stéphane Gagnon, Neil B Sweezey
Journal: Allergy Asthma Clin Immunol (2014)
MeSH terms: Case Reports

A girl was diagnosed with cystic fibrosis (CF) at birth, with repeatedly positive sweat tests and homozygous F508del mutations of her CF transmembrane conductance regulator (CFTR) gene. From an early age, her lung disease was more severe than her birth cohort peers despite aggressive treatment. At the age of 16 she was listed for lung transplantation, but prior to transplant was not on systemic corticosteroids or other immunosuppressive agents. In response to ex vivo stimulation, her pre-transplant peripheral blood T cells unexpectedly failed to produce detectable levels of IFN-γ, unlike cells from healthy controls or from another girl with CF and lung disease of comparable severity. Furthermore, naïve T cells freshly isolated from her peripheral blood showed a complete block of T cell differentiation into Th1, Th17 and Treg lineages, even in the presence of cytokines known to promote differentiation into the respective lineages. Her serology has been remarkably devoid of evidence of exposure to viruses that have been associated with T cell exhaustion. However, her freshly isolated naïve T cells showed sustained expression of markers of T cell exhaustion, which were further induced upon ex vivo stimulation, pointing to T cell exhaustion as the cause of the failure of naïve T cells to undergo differentiation in response to cytokine stimulation. Although excessive inflammation in CF lung can be both ineffective at clearing certain pathogens as well as destructive to the lung tissue itself, adequate inflammation is a component of an effective overall immune response to microbial pathogens. Our present findings suggest that intrinsic impairment of T cell differentiation may have contributed to the greater severity and more rapid progression of her CF lung disease than of the lung disease of most of her peers.
High dose Anakinra for treatment of severe neonatal Kawasaki disease: a case report
Authors: Ashley Shafferman, James D Birmingham, Randy Q Cron
Journal: Pediatr Rheumatol Online J (2014)
Keywords: anakinra, interleukin-1 receptor antagonist, kawasaki disease, macrophage activation syndrome, neonate, secondary hemophagocytic lymphohistiocytosis
MeSH terms: Antibodies, Monoclonal / administration & dosage, Glucocorticoids / administration & dosage, Interleukin 1 Receptor Antagonist Protein / administration & dosage, Macrophage Activation Syndrome / drug therapy, Macrophage Activation Syndrome / etiology, Mucocutaneous Lymph Node Syndrome / complications, Mucocutaneous Lymph Node Syndrome / diagnosis, Mucocutaneous Lymph Node Syndrome / drug therapy, Mucocutaneous Lymph Node Syndrome / physiopathology, Case Reports, Antirheumatic Agents / administration & dosage, Dose-Response Relationship, Drug, Drug Monitoring, Drug Therapy, Combination, Early Diagnosis, Early Medical Intervention, Female, Humans, Infant, Infliximab, Patient Acuity, Treatment Outcome, Antibodies, Monoclonal, Antirheumatic Agents, Glucocorticoids, Interleukin 1 Receptor Antagonist Protein, Infliximab

We report an 11-week-old female who presented with Kawasaki disease (KD) complicated by macrophage activation syndrome (MAS). The infant presented to the hospital with persistent fever, cough, diarrhea, and emesis, among other symptoms. Her condition quickly began to decompensate, and she developed classic features (conjunctivitis, rash, cracked lips, distal extremity edema) prompting a diagnosis of acute KD. The patient was treated with standard therapy for KD including three doses of intravenous immunoglobulin (IVIG), aspirin, and high dose glucocorticoids with no change in her condition. Due to a high suspicion for MAS, high dose anakinra therapy was initiated resulting in dramatic clinical improvements. She also received one dose of infliximab for concern for coronary artery changes, and over the course of several months, anakinra and high dose glucocorticoids were tapered. Nearly complete reversal of echocardiogram changes were observed after 8 months, and the infant is now off all immunosuppressive therapy. In this case report, we briefly review the importance of early recognition of MAS in pediatric patient populations with rheumatic diseases, and we suggest early initiation of anakinra therapy as a rapid and effective treatment option.
Delayed Therapy of Descending Aortic Coarctation Results in Anterior Cerebral Rupture: A Case Report
Authors: Kele Qin, Jinfu Yang, Mi Tang, Chukwuemeka Daniel Iroegbu, Shijun Hu, Chengming Fan
Journal: Front Pediatr (2021)
Keywords: congenital heart disease, delayed therapy, descending aortic coarctation, rupture, surgery
MeSH terms: Case Reports

Background: Coarctation of the aorta (CoA) is the congenital constriction or narrowing of the aortic lumen. These constrictions are primarily located in the descending aorta causing significant discrepancies in systolic blood pressures of the upper and lower extremities. Thus, a delay in diagnosis and treatment may lead to severe and adverse consequences. Case presentation: Herein, we present a 13-year-old boy with anterior cerebral rupture following a delayed diagnosis for descending CoA. Percutaneous transluminal balloon dilatation and endovascular stent implantation were urgently and successfully performed alongside cerebral clipping of the vascular aneurysm. Conclusion: An early diagnosis is crucial for CoA's successful treatment and management to prevent complications, including anterior cerebral rupture.
Nephropleural Fistula Effectively Managed with Serial Thoracentesis: A Case Report
Authors: Aaron D Baugh, Eslam Youssef, Syed Shafae Hasan, Nauman Saleem Siddiqui, Haitham Elsamoloty, Khaled Shahrour, Toseef Javaid
Journal: J Endourol Case Rep (2016)
Keywords: complications, nephrolithotomy, nephropleural fistula, tube thoracotomy, urinothorax
MeSH terms: Case Reports

Nephropleural fistulae are rare but serious thoracic complications of percutaneous nephrolithotomy (PCNL). Herein, we present the management of a 54-year-old female with a delayed presentation of nephropleural fistula. The role of serial thoracentesis as a safe, less invasive, less painful alternative to tube thoracostomy is highlighted. In select cases, this may represent an attractive management strategy for nephropleural fistula after PCNL.
Case Report and Review of the Literature: A New and a Recurrent Variant in the VARS2 Gene Are Associated With Isolated Lethal Hypertrophic Cardiomyopathy, Hyperlactatemia, and Pulmonary Hypertension in Early Infancy
Authors: Katarína Kušíková, René Günther Feichtinger, Bernhard Csillag, Ognian Kostadinov Kalev, Serge Weis, Hans-Christoph Duba, Johannes Adalbert Mayr, Denisa Weis
Journal: Front Pediatr (2021)
Keywords: vars2 gene, hyperlactatemia, lethal hypertrophic cardiomyopathy, mitochondriopathy, oxidative phosphorylation, pulmonary hypertension
MeSH terms: Case Reports

Mitochondriopathies represent a wide spectrum of miscellaneous disorders with multisystem involvement, which are caused by various genetic changes. The establishment of the diagnosis of mitochondriopathy is often challenging. Recently, several mutations of the VARS2 gene encoding the mitochondrial valyl-tRNA synthetase were associated with early onset encephalomyopathies or encephalocardiomyopathies with major clinical features such as hypotonia, developmental delay, brain MRI changes, epilepsy, hypertrophic cardiomyopathy, and plasma lactate elevation. However, the correlation between genotype and phenotype still remains unclear. In this paper we present a male Caucasian patient with a recurrent c.1168G>A (p.Ala390Thr) and a new missense biallelic variant c.2758T>C (p.Tyr920His) in the VARS2 gene which were detected by whole exome sequencing (WES). VARS2 protein was reduced in the patient's muscle. A resulting defect of oxidative phosphorylation (OXPHOS) was proven by enzymatic assay, western blotting and immunohistochemistry from a homogenate of skeletal muscle tissue. Clinical signs of our patient included hyperlactatemia, hypertrophic cardiomyopathy (HCM) and pulmonary hypertension, which led to early death at the age of 47 days without any other known accompanying signs. The finding of novel variants in the VARS2 gene expands the spectrum of known mutations and phenotype presentation. Based on our findings we recommend to consider possible mitochondriopathy and to include the analysis of the VARS2 gene in the genetic diagnostic algorithm in cases with early manifesting and rapidly progressing HCM with hyperlactatemia.
Sex cord-gonadal stromal tumor of the rete testis
Authors: Kamran P Sajadi, Rory R Dalton, James A Brown
Journal: Adv Urol (2009)
MeSH terms: Case Reports

A 34-year-old tetraplegic patient with suppurative epididymitis was found on follow-up examination and ultrasonography to have a testicular mass. The radical orchiectomy specimen contained an undifferentiated spindled sex cord-stromal tumor arising in the rete testis. Testicular sex cord-stromal tumors are far less common than germ cell neoplasms and are usually benign. The close relationship between sex cords and ductules of the rete testis during development provides the opportunity for these uncommon tumors to arise anatomically within the rete tesis. This undifferentiated sex cord-stromal tumor, occurring in a previously unreported location, is an example of an unusual lesion mimicking an intratesticular malignant neoplasm.
Pregnancy in dialysis patients: a case series
Authors: Khalid A Al-Saran, Alaa A Sabry
Journal: J Med Case Rep (2008)

Fertility is markedly reduced in patients with chronic renal failure. For women with pre-existing renal disease, pregnancy is associated with an increased rate of fetal complications and a considerable risk of renal disease progression. Due to substantial improvements in antenatal and neonatal care, fetal outcome has improved considerably in the last two decade.A Saudi survey which examined the frequency of pregnancy among women in end stage renal disease (ESRD) and undergoing regular hemodialysis (HD), showed an incidence of 7% over a five year period (1.4 per year). This may reflect the cultural endorsement of having offspring.We hereby report 2 cases of successful pregnancy managed at the Prince Salman Center for Kidney Diseases (PSCKD).
A life-devastating cause of gastroenteritis in an immunocompetent host: was it suspected?
Authors: Ahsan Wahab, Siddique Chaudhary, Ali Ahmad, Vidya Kollu, Susan Smith
Journal: Clin Case Rep (2017)
Keywords: bacteremia, death, gastroenteritis, immunocompetent, listeriosis
MeSH terms: Case Reports

A 44-year-old immunocompetent man with gastroenteritis received supportive care and empiric antibiotics. After an initial response, he developed septic shock. Blood cultures grew Gram-positive bacilli with antibiotic adjustment. However, he succumbed within 36 h. After the patient's death, Listeria monocytogenes was identified on blood culture.
Partial Hydatidiform Mole and Coexistent Live Fetus: A Case Report and Review of the Literature
Authors: Chengying Zeng, Yanbi Chen, Lijuan Zhao, Bo Wan
Journal: Open Med (Wars) (2019)
Keywords: case report, normal viable fetus, partial molar, prenatal diagnosis, pseudomosaicism

Twin pregnancy of a hydatidiform mole with a coexistent live fetus is very rare, and complete molar pregnancy is involved in most cases. A partial molar pregnancy almost always ends in miscarriage due to a triploid fetus. Here, we report a case of a 32-year-old Chinese woman with ultrasound diagnosis of a partial molar pregnancy. Amniocentesis suggested mosaicism, but the fetus was morphologically normal. The woman chose to continue the pregnancy after fully understanding the risk. The infant was delivered prematurely, and the presence of a large single placenta with molar changes. The baby's peripheral blood chromosomes were diploid, and the pregnant woman had no serious complications. The diagnosis, management, and monitoring of this condition will remain challenging because of its rarity. Partial hydatidiform mole combined with pregnancy can result in delivering of a normal fetus and live birth under proper management.
Preserved self-awareness following extensive bilateral brain damage to the insula, anterior cingulate, and medial prefrontal cortices
Authors: Carissa L Philippi, Justin S Feinstein, Sahib S Khalsa, Antonio Damasio, Daniel Tranel, Gregory Landini, Kenneth Williford, David Rudrauf
Journal: PLoS One (2012)
MeSH terms: Awareness / physiology, Brain Injuries / physiopathology, Gyrus Cinguli / injuries, Gyrus Cinguli / physiopathology, Prefrontal Cortex / injuries, Prefrontal Cortex / physiopathology, Case Reports, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't, Behavior / physiology, Consciousness / physiology, Face, Functional Neuroimaging, Humans, Magnetic Resonance Imaging, Male, Middle Aged, Recognition, Psychology / physiology, Smell / physiology

It has been proposed that self-awareness (SA), a multifaceted phenomenon central to human consciousness, depends critically on specific brain regions, namely the insular cortex, the anterior cingulate cortex (ACC), and the medial prefrontal cortex (mPFC). Such a proposal predicts that damage to these regions should disrupt or even abolish SA. We tested this prediction in a rare neurological patient with extensive bilateral brain damage encompassing the insula, ACC, mPFC, and the medial temporal lobes. In spite of severe amnesia, which partially affected his "autobiographical self", the patient's SA remained fundamentally intact. His Core SA, including basic self-recognition and sense of self-agency, was preserved. His Extended SA and Introspective SA were also largely intact, as he has a stable self-concept and intact higher-order metacognitive abilities. The results suggest that the insular cortex, ACC and mPFC are not required for most aspects of SA. Our findings are compatible with the hypothesis that SA is likely to emerge from more distributed interactions among brain networks including those in the brainstem, thalamus, and posteromedial cortices.
The Successful Anesthetic Management of a Cesarean Delivery in a Patient with Fanconi-Bickel Syndrome
Authors: Alexander M DeLeon, Rishi D Gaiha, Feyce M Peralta
Journal: Case Rep Anesthesiol (2022)
MeSH terms: Case Reports

Introduction:
Fanconi-Bickel syndrome (FBS) is a rare genetic condition characterized by extremely short stature, renal tubular dysfunction, osteoporosis, and rickets. The literature is scant regarding the successful reproduction of women with FBS. Cesarean delivery is indicated due to the risk of pelvic fracture from vaginal delivery in a patient with FBS and rickets, yet no case describing the anesthetic has been reported. Clinical Findings. We present a 39-inch-tall, 46.47 kg/m2 BMI woman with FBS who was scheduled for cesarean delivery and requesting neuraxial anesthesia. A low-dose, combined spinal-epidural technique (CSE) was employed to account for her extreme short stature yet allow for additional dosing if needed. The cesarean delivery, hospital course, and follow-up were all uneventful.
Conclusion:
A single case of an FBS patient's successful pregnancy was previously reported in the literature without describing the anesthetic technique. Our case is unique in that it is the first case in the literature that we are aware of describing the anesthetic technique. This case may provide a template for clinicians treating FBS patients and patients with extremely short stature.
Systolic compression of intramural coronary arteries in hypertrophic cardiomyopathy
Authors: Muhammet Rasit Sayin, Sait Mesut Dogan, Turgut Karabag, Ibrahim Akpinar, Mustafa Aydin
Journal: Case Rep Cardiol (2012)
MeSH terms: Case Reports

We report a case of hypertrophic cardiomyopathy due to systolic total narrowing of side branches of all major coronary arteries.
Kawasaki disease complicated with shock syndrome, macrophage activation syndrome, and acute abdomen in children: Two case reports
Authors: Cong Yi, Xiang She, Jia Chen
Journal: Front Pediatr (2023)
Keywords: acute abdomen, case report, kawasaki disease, kawasaki disease shock syndrome, macrophage activation syndrome
MeSH terms: Case Reports

Background:
Kawasaki disease (KD) is an acute systemic vasculitis that can involve multiple organs. Few reports have been published about KD patients presenting with multiple complications such as acute abdomen, KD shock syndrome (KDSS), and macrophage activation syndrome (MAS).
Case description:
We present the cases of two males (9 and 12 years old) diagnosed with KD accompanied by rare manifestations. Case 1 is a 9-year-old male treated for acute appendicitis, KDSS, and MAS. Case 2 is a 12-year-old male who presented with KDSS, MAS, and an ileal perforation. They were treated with intravenous immunoglobulin, aspirin, high-dose corticosteroids, vasoactive drugs, and symptomatic treatment, with good outcomes.
Conclusions:
Clinicians should be aware of the possibility of KD in the presence of fever and unusual manifestations, such as severe inflammatory indicators and acute abdomen that is nonresponsive to antibiotic therapy. Meanwhile, KD-related unusual complications should be recognized, such as KDSS and MAS.
Etanercept and venous thromboembolism: a case series
Authors: Ashima Makol, Madhusudan Grover, Carla Guggenheim, Houria Hassouna
Journal: J Med Case Rep (2010)

Introduction:
The treatment with antitumor necrosis factor agents has often been associated with the induction of autoantibodies (antinuclear antibodies, anti-double stranded DNA antibodies and antiphospholipid antibodies). The clinical significance of these antibodies remains unclear, but they may predispose to antiphospholipid syndrome with thromboembolic complications. The association of etanercept with thromboembolic events has not been reported previously in the literature.
Case presentation:
We describe the cases of three patients with rheumatoid arthritis, psoriatic arthritis and seronegative inflammatory arthritis who were treated with etanercept. They developed deep vein thrombosis and/or pulmonary embolism one to three years after the initiation of etanercept therapy. All three patients had a prolonged activated partial thromboplastin time with a positive lupus anticoagulant that persisted even after 12 weeks.
Conclusion:
Although the clinical significance of antiphospholipid antibodies during treatment with antitumor necrosis factor agents remains unclear, they may predispose patients to develop antiphospholipid syndrome when associated with prolonged activated partial thromboplastin time, lupus anticoagulant positivity, or the presence of anti-beta2 glycoprotein I. Clinicians must keep this in mind during therapy with antitumor necrosis factor agents in order to prevent, detect and treat potential consequences such as deep vein thrombosis and pulmonary embolism.
Endoscopic Resection of Skull Base Teratoma in Klippel-Feil Syndrome through Use of Combined Ultrasonic and Bipolar Diathermy Platforms
Authors: Justin A Edward, Alkis J Psaltis, Ryan A Williams, Gregory W Charville, Robert L Dodd, Jayakar V Nayak
Journal: Case Rep Otolaryngol (2017)
MeSH terms: Case Reports

Klippel-Feil syndrome (KFS) is associated with numerous craniofacial abnormalities but rarely with skull base tumor formation. We report an unusual and dramatic case of a symptomatic, mature skull base teratoma in an adult patient with KFS, with extension through the basisphenoid to obstruct the nasopharynx. This benign lesion was associated with midline palatal and cerebral defects, most notably pituitary and vertebrobasilar arteriolar duplications. A multidisciplinary workup and a complete endoscopic, transnasal surgical approach between otolaryngology and neurosurgery were undertaken. Out of concern for vascular control of the fibrofatty dense tumor stalk at the skull base and need for complete teratoma resection, we successfully employed a tissue resection tool with combined ultrasonic and bipolar diathermy to the tumor pedicle at the sphenoid/clivus junction. No CSF leak or major hemorrhage was noted using this endonasal approach, and no concerning postoperative sequelae were encountered. The patient continues to do well now 3 years after tumor extirpation, with resolution of all preoperative symptoms and absence of teratoma recurrence. KFS, teratoma biology, endocrine gland duplication, and the complex considerations required for successfully addressing this type of advanced skull base pathology are all reviewed herein.