OpenMed/multicare-articles huggingface dataset:
Pathology and Advanced Imaging-Characterization of a Congenital Cardiac Defect and Complex Hemodynamics in a Pig: A Case Report
Authors: Alexandra J Malbon, Miriam Weisskopf, Lukas Glaus, Sebastian Neuber, Maximilian Y Emmert, Christian T Stoeck, Nikola Cesarovic
Journal: Front Vet Sci (2021)
Keywords: atrial septal defect, blood flow, cardiovascular imaging, cardiovascular pathology, congenital heart defects, large animal models
MeSH terms: Case Reports

Domestic pigs are widely used in cardiovascular research as the porcine circulatory system bears a remarkable resemblance to that of humans. In order to reduce variability, only clinically healthy animals enter the study as their health status is assessed in entry examination. Like humans, pigs can also suffer from congenital heart disease, such as an atrial septal defect (ASD), which often remains undetected. Due to the malformation of the endocardial cushion during organ development, mitral valve defects (e.g., mitral clefts) are sometimes associated with ASDs, further contributing to hemodynamic instability. In this work, we report an incidental finding of a hemodynamically highly relevant ASD in the presence of incompetent mitral and tricuspid valves, in an asymptomatic, otherwise healthy juvenile pig. In-depth characterization of the cardiac blood flow by four-dimensional (4D) flow magnetic resonance imaging (MRI) revealed a prominent diastolic left-to-right and discrete systolic right-to-left shunt, resulting in a pulmonary-to-systemic flow ratio of 1.8. Severe mitral (15 mL/stroke) and tricuspid (22 mL/stroke) regurgitation further reduced cardiac output. Pathological examination confirmed the presence of an ostium primum ASD and found a serous cyst of lymphatic origin that was filled with clear fluid partially occluding the ASD. A large mitral cleft was identified as the most likely cause of severe regurgitation, and histology showed mild to moderate endocardiosis in the coaptation area of both atrio-ventricular valves. In summary, although not common, congenital heart defects could play a role as a cause of experimental variability or even intra-experimental mortality when working with apparently heathy, juvenile pigs.
Unilateral absence of the pulmonary artery incidentally found in adulthood
Authors: Cenk Aypak, Hülya Yıkılkan, Zekai Uysal, Süleyman Görpelioğlu
Journal: Case Rep Med (2012)
MeSH terms: Case Reports

Unilateral absence of the pulmonary artery (UAPA) or pulmonary artery agenesis is a rare congenital disorder presenting with a wide spectrum of symptoms. UAPA is usually associated with cardiac anomalies and surgically treated in childhood. We report a rare case of a 50-year-old woman who was diagnosed with left pulmonary artery agenesis without any other cardiac anomalies. Clinicians should be aware of the possibility of undiagnosed cases of UAPA in patients through a chest radiograph that suggests the diagnosis. Confirmation of the diagnosis and anatomic details can be discerned by CT scanning.
Gorham-Stout syndrome affecting the left mandible: A case report
Authors: Qingshan Dong, Yafei Zhang, Chuankong Sun, Jiaping Guo
Journal: Exp Ther Med (2013)

Gorham-Stout syndrome is an extremely rare condition in which spontaneous, progressive resorption of bone occurs. Owing to its low incidence and variable clinical presentation, the diagnosis is often missed or delayed, and at present, there are no specific guidelines for its treatment. We present the case of a 20-year-old male diagnosed with Gorham-Stout syndrome with involvement of the left mandible, and discuss its diagnostic and therapeutic features.
Primary Adrenal Failure due to Antiphospholipid Syndrome
Authors: Murat Sahin, Ayten Oguz, Dilek Tuzun, Serife Nur Boysan, Bülent Mese, Hatice Sahin, Kamile Gul
Journal: Case Rep Endocrinol (2015)

Background. Antiphospholipid syndrome (APS) characterized by thrombosis and abortus may rarely cause primary adrenal failure. Case Presentations. A 34-year-old male presented with hypotension, hypoglycemia, hyperpigmentation on his skin and oral mucosa, scars on both legs, and loss of consciousness. In laboratory examinations, hyponatremia (135 mmol/L), hyperpotassemia (6 mmol/L), and thrombocytopenia (83 K/µL) were determined. Cortisol (1.91 µg/dL) and adrenocorticotropic (550 pg/mL) hormone levels were also evaluated. The patient was hospitalized with a diagnosis of acute adrenal crisis due to primary adrenal insufficiency. A Doppler ultrasound revealed venous thrombosis. The patient was diagnosed with antiphospholipid syndrome after the detection of venous thrombosis, thrombocytopenia, elevated aPTT, and anticardiolipin antibody levels. Anticoagulation treatment was started for antiphospholipid syndrome. The patient is now following up with hydrocortisone, fludrocortisone, and warfarin sodium. Conclusion. Antiphospholipid syndrome is a rare reason for adrenal failure. Antiphospholipid syndrome should be suspected if patients have morbidity secondary to venous-arterial thrombosis.
A Case of Secondary Hemophagocytic Lymphohistiocytosis Presenting with Severe Dyserythropoeisis in a Patient with Autoimmune Hemolysis
Authors: Kai J Rogers, Sharathkumar Bhagavathi
Journal: Case Rep Hematol (2022)
MeSH terms: Case Reports

The diagnosis of hemophagocytic lymphohistiocytosis (HLH) requires that several clinical criteria are met, and often relies on the identification of rare hemophagocytic cells in the bone marrow. Given the challenge in making the diagnosis, additional signs of immune dysregulation in the bone marrow would have practical clinical use in cases where overt hemophagocytosis is not seen. We present here a case of secondary HLH in a patient with autoimmune hemolysis ultimately diagnosed as Evans syndrome that initially presented with profound dyserythropoeisis in both the peripheral blood and bone marrow. We also explore an association between dyserythropoeisis and HLH in a series of cases previously seen at our institution.
Facial erythema after the treatment of dupilumab in SLE patient
Authors: Dong Hyek Jang, Jae In Lee, Joo Yoon Bae, Hye Jung Jung, Mi Yeon Park, Jiyoung Ahn
Journal: Allergy Asthma Clin Immunol (2020)
Keywords: atopic dermatitis, dupilumab, facial erythema, sle
MeSH terms: Case Reports

Background:
Dupilumab is a receptor antagonist binding to the alpha subunit of the interleukin-4 receptor. Through binding to it, dupilumab inhibits signaling of both IL-4 and IL-13, the representative Th2 biomarkers. Recently, in addition to the treatment effects for atopic dermatitis (AD), there is an emerging adverse event as facial erythema.
Case presentation:
A twenty-seven-year-old female patient developed erythema and desquamation on the face and neck after dupilumab administration. She had AD on her arms, legs, and trunk before the treatment but there was no atopic clinical feature in her face and neck. With the treatment of dupilumab, her skin lesions of the body have improved from the beginning of the treatment. In the patch test, including dupilumab, there was no specific finding other than the 1+ response to neomycin on day 2. In the intradermal test to dupilumab, a positive result was observed 15 min later, but negative both days 1 and 2. The blood examination showed an elevation of both ANA as 1:80 and anti-phospholipid antibodies (Anti-cardiolipin IgM, IgG, and Anti- beta 2 GPI IgG). She was diagnosed with Systemic lupus erythematosus (SLE) based on diagnostic criteria by a rheumatologist.
Conclusion:
Dupilumab is an emerging therapeutic agent for AD, and treatment cases are increasing in Korea. However, there are several adverse events during the treatment of dupilumab. Herein, we report the unexpected adverse event during the treatment of dupilumab in SLE patients.
Cutaneous manifestations of lightning injury: a case report
Authors: M E Asuquo, I A Ikpeme, I Abang
Journal: Eplasty (2008)

Background:
Lightning injuries are relatively uncommon and have been a subject of awe since primitive times. It most significantly affects the cardiorespiratory, nervous, and integumentary systems. Surprisingly, cutaneous burn injuries caused by lightning are usually superficial.
Objective:
To present the cutaneous manifestations of lightning injuries and the sequelae of improper management.
Case report:
A 22-year-old woman presented with cutaneous manifestations of lightning-induced burns and bilateral upper limb gangrene after 2 months of improper treatment. She refused amputation after counseling and left the hospital.
Conclusion:
This is a rare case of burns with cutaneous manifestations peculiar to lightning injury. These features serve as evidence of lightning injury, when in doubt, especially in societies where superstition is rife. Education concerning the nature of lightning and proper management would improve outcome.
Protein Loss Enteropathy as an Initial Presentation of Gastric Epstein-Barr Virus Lymphoma
Authors: Bilal Niazi, Saad Ali, Sameh Elias, Michael Sciarra
Journal: Case Rep Gastrointest Med (2022)
MeSH terms: Case Reports

Protein loss enteropathy (PLE) is a complex disease process that can result in potentially fatal protein losses. Gastrointestinal protein losses usually arise from damage to the gastrointestinal mucosa or from lymphatic obstruction. The goal of management is to identify and treat the underlying causes and maintain normal serum protein levels. Here, we present a patient with diarrhea and generalized edema, with decreased serum albumin and gamma-globulin levels, concerning for protein loss enteropathy. He was ultimately found to be positive for HIV infection, and his stool alpha-1 antitrypsin levels were diagnostic of protein loss enteropathy. His endoscopic and histologic evaluation revealed gastric Epstein-Barr virus-encoded small RNA- (EBER-) positive lymphoma. Though gastrointestinal lymphomas are known to cause PLE, this will be the first documented case of EBER-positive gastric lymphoma presenting with PLE. We hope to bring awareness to this unique presentation to aid in expedient diagnosis and treatment to avoid delays in treatment and potentially fatal outcomes.
Genital Reconstruction After Weight Loss in Adipose Male Patients: A Case report
Authors: Daniel Robert Arno Sattler, Silke Altmann, Manfred Infanger, Nauras Abuagela, Sarah Maj Schneegans, Hans-Georg Damert, Armin Kraus
Journal: Eplasty (2014)
Keywords: abdominoplasty, genital reconstruction, obesity, pendulous abdomen, penis reconstruction
MeSH terms: Case Reports

Objective:
We introduce our surgical technique in two male genital reconstruction cases out of 15 post-bariatric patients.
Methods:
At our Department for Plastic Surgery at the University Hospital Magdeburg, 15 patients, 6 male and 9 female, underwent a surgical abdominoplasty after weight loss in 2009.
Results:
The average weight of the 15 patients was preoperatively 197.2 kg and the average hospital stay was of 14 days. In 2 cases, a second procedure for male genital reconstruction was necessary. After primary dietary measures and weight loss, we performed genital reconstruction in a second step with a sleeve-, Z-, VY-plasty and a "bilobed flap" to restore function and appearance of the male genitalia. In these patients, the average weight was 207.5 kg and hospital stay lasted 32 days.
Conclusion:
The increase of patients with obesity-related genital deformities will be expected in the future. Therefore, more controlled long-term studies should be published to develop guidelines for genital reconstruction techniques in plastic surgery.
Successful Treatment of Holmes Tremor With Deep Brain Stimulation of the Prelemniscal Radiations
Authors: Vicente Martinez, Shu-Ching Hu, Thomas J Foutz, Andew Ko
Journal: Front Surg (2018)
Keywords: dbs, deep brain stimulation, holmes tremor, prelemniscal area, tractography

Holmes tremor (HT) is a rare movement disorder that is typically associated with cerebellar, thalamic or brainstem lesions following a delay. Treatment of HT with deep brain stimulation (DBS) has yielded positive results however; it is unclear which deep brain targets provide optimal therapeutic effects. Here we describe a case report in which a 34 year old man with HT treated successfully with DBS. The ventrointermediate nucleus (VIM) of the thalamus was considered as the initial target. Following electrode placement we determined that the ventral-most electrode contacts were located in the prelemniscal radiations (Raprl). When stimulating from the Raprl contacts, the patient demonstrated robust, stable therapeutic improvements using remarkably low voltages. Our case report corroborates prior evidence suggesting the Raprl as a viable therapeutic target for treating HT with DBS.
Acute Lymphoblastic Leukemia following Lenalidomide Maintenance for Multiple Myeloma: Two Cases with Unexpected Presentation and Good Prognostic Features
Authors: Abdullah M Khan, Jameel Muzaffar, Hermant Murthy, John R Wingard, Jan S Moreb
Journal: Case Rep Hematol (2018)
MeSH terms: Case Reports

Lenalidomide maintenance following autologous stem cell transplant (ASCT) is considered the standard of care for eligible patients with multiple myeloma (MM). A recent meta-analysis has provided additional evidence that lenalidomide maintenance is associated with a higher incidence of second primary malignancies, including both hematologic and solid malignancies. Acute lymphoblastic leukemia (ALL) as a second primary malignancy is rarely described in the literature. Herein, we describe two patients with MM treated with induction therapy, ASCT, and lenalidomide maintenance that experienced cytopenias while on maintenance. ALL was unexpectedly diagnosed on bone marrow biopsy. One patient was diagnosed on routine biopsy performed as part of requirements of the clinical trial. Both patients had B-cell ALL, without known poor risk cytogenetics, and were managed with standard induction therapies resulting in complete remission. We also reviewed the literature for similar cases of secondary ALL (sALL) in MM patients exposed to immunomodulatory drugs (IMiDs). In conclusion, persistent cytopenias in responding MM patients receiving IMiDs maintenance should be an indication for bone marrow biopsy. Patients develop sALL after median of 32.5 months (range, 20-84) from being on lenalidomide or thalidomide maintenance, often presenting with cytopenias, display low tolerance to chemotherapy, but remission can often be achieved.
Apraxia of speech and cerebellar mutism syndrome: a case report
Authors: E De Witte, I Wilssens, D De Surgeloose, G Dua, M Moens, J Verhoeven, M Manto, P Mariën
Journal: Cerebellum Ataxias (2017)
Keywords: apraxia of speech, ataxic dysarthria, case report, cerebellar mutism syndrome, cerebellum, medulloblastoma, posterior fossa
MeSH terms: Case Reports

Background:
Cerebellar mutism syndrome (CMS) or posterior fossa syndrome (PFS) consists of a constellation of neuropsychiatric, neuropsychological and neurogenic speech and language deficits. It is most commonly observed in children after posterior fossa tumor surgery. The most prominent feature of CMS is mutism, which generally starts after a few days after the operation, has a limited duration and is typically followed by motor speech deficits. However, the core speech disorder subserving CMS is still unclear.
Case presentation:
This study investigates the speech and language symptoms following posterior fossa medulloblastoma surgery in a 12-year-old right-handed boy. An extensive battery of formal speech (DIAS = Diagnostic Instrument Apraxia of Speech) and language tests were administered during a follow-up of 6 weeks after surgery. Although the neurological and neuropsychological (affective, cognitive) symptoms of this patient are consistent with Schmahmann's syndrome, the speech and language symptoms were markedly different from what is typically described in the literature. In-depth analyses of speech production revealed features consistent with a diagnosis of apraxia of speech (AoS) while ataxic dysarthria was completely absent. In addition, language assessments showed genuine aphasic deficits as reflected by distorted language production and perception, wordfinding difficulties, grammatical disturbances and verbal fluency deficits.
Conclusion:
To the best of our knowledge this case might be the first example that clearly demonstrates that a higher level motor planning disorder (apraxia) may be the origin of disrupted speech in CMS. In addition, identification of non-motor linguistic disturbances during follow-up add to the view that the cerebellum not only plays a crucial role in the planning and execution of speech but also in linguistic processing. Whether the cerebellum has a direct or indirect role in motor speech planning needs to be further investigated.
Case Report: Ictal Central Apnea as First and Overlooked Symptom in Temporal Lobe Seizures
Authors: Elisa Micalizzi, Anna Elisabetta Vaudano, Giada Giovannini, Giulia Turchi, Leandra Giunta, Stefano Meletti
Journal: Front Neurol (2021)
Keywords: sudep, amygdala, ictal apnea, seizures, temporal lobe epilepsy
MeSH terms: Case Reports

Ictal respiratory changes have been mainly described following generalized tonic-clonic seizures and recently considered to be a biomarker to assess the risk of sudden unexplained death in epilepsy (SUDEP). Nonetheless, modification of respiratory pattern can be related also to focal seizures, especially arising from the temporal lobe. Changes in cardiac function such as tachycardia or bradycardia could be often associated. We report a short case series of four patients with temporal lobe epilepsy admitted to our Epilepsy Monitoring Unit (EMU) presenting with an ictal central apnea as the first clinical manifestation of their seizures. None of these patients was aware of the occurrence of respiratory arrest. Age at onset ranged from 15 to 29 years. One patient had seizures with prolonged central apnea accompanied by a significant decrease in oxygen saturation. Neuroimaging in two patients showed alterations of mesial temporal lobe structures, including the amygdala. Recent neurophysiological studies supported the existence of a cortical network involving the limbic system that modulates downstream brainstem respiratory centers. Monitoring for respiratory changes and oxygen saturation in focal seizures is warranted for their potential value in identifying the epileptogenic zone and for a better understanding of ictal respiratory changes that could potentially define a subgroup of patients with high risk of seizure-related autonomic changes.
Myiasis as a rare complication of male circumcision: a case report and review of literature
Authors: Muhammad Rajib Hossain, Kazi Mazharul Islam, Junaid Nabi
Journal: Case Rep Surg (2012)

Introduction. Circumcision is a common procedure carried out around the world. Due to religious reasons, it is routinely done in Bangladesh, by both traditional as well as medically trained circumcisers. Complications include excessive bleeding, loss of foreskin, infection, and injury to the glans penis. Myiasis complicating male circumcision appears to be very rare. Case Presentation. In 2010, a 10-year-old boy presented to the OPD of Dhaka Medical College Hospital with severe pain in his penile region following circumcision 7-days after. The procedure was carried out by a traditional circumciser using unsterilized instruments and dressing material. After examination, unhealthy granulation tissue was seen and maggots started coming out from the site of infestation, indicating presence of more maggots underneath the skin. An emergency operation was carried out to remove the maggots and reconstruction was carried out at the plastic surgery department. Conclusion. There is scarcity of literature regarding complications following circumcision in developing countries. Most dangerous complications are a result of procedure carried out by traditional circumcisers who are inadequately trained. Incidence of such complications can be prevented by establishing a link between the formal and informal sections of healthcare to improve the safety of the procedure.
Chronic Atypical Depression as an Early Feature of Pituitary Adenoma: A Case Report and Literature Review
Authors: Filipa Cardoso, Heela Azizi, Alexander Kilpatrick, Olaniyi Olayinka, Tasmia Khan, Alexa Kahn, Cecilia Canale, Chiedozie Ojimba, Olusegun Popoola, Deepa Nuthalapati, Maleeha Ahmad, Mirna Iskander, Ali Chohan, Sara Parisi, Ulunma Umesi, Hashem Kalbouneh, Arka Bhattacharya, Kodjovi Kodjo, Oluwole Jegede, Ayodeji Jolayemi
Journal: Case Rep Psychiatry (2019)
MeSH terms: Case Reports

Pituitary adenomas are often diagnosed as incidental findings on brain imaging. We present the case of a 52-year-old African American female patient with long standing depressed mood prior to the incidental finding of a pituitary adenoma. We explore the possibility of certain mood symptoms prompting an early diagnosis of pituitary adenoma.
Rhodotorula Endogenous Endophthalmitis: A Novel Harbinger of the Injection Drug Epidemic in the United States
Authors: Preston M Luong, Basilio Kalpakian, Lawrence J Jaeger, Timothy Lahey, Christopher B Chapman, Michael E Zegans
Journal: Case Rep Infect Dis (2017)
MeSH terms: Case Reports

Endogenous endophthalmitis is a rare but feared infectious ocular complication of injection drug use (IDU). The recent opioid epidemic in the United States threatens to increase the incidence of this disease. We report the first case of endogenous endophthalmitis in the United States caused by the emerging fungal pathogen Rhodotorula in an injection drug user which led to no light perception vision (NLP). Worldwide experience with Rhodotorula endogenous endophthalmitis is limited, but existing cases suggest infection by this particular fungal genus has a grim prognosis.
Metagenomic next-generation sequencing in a diagnosis of Pneumocystis pneumonia in an X-linked immunodeficient child: a case report
Authors: Lu Qing, Yufei Zhao, Ye Zhang, Yuanlin Guan, Guoyan Lu
Journal: Front Pediatr (2023)
Keywords: pneumocystis jirovecii pneumonia, x-linked immunodeficiency, child, diagnosis, metagenomic next-generation sequencing
MeSH terms: Case Reports

Background:
The diagnosis of Pneumocystis pneumonia (PCP) remains challenging in certain specific clinical situations. Metagenomic next-generation sequencing (mNGS), as a novel diagnostic method, may help in the diagnosis of PCP.
Case presentation:
A 6-month-old male child developed acute pneumonia and sepsis. This child had previously suffered from Escherichia coli septicemia and was cured. However, the fever and dyspnea relapsed. Blood tests revealed a low lymphocyte count (0.69 × 109/L) and acute inflammatory markers such as high-level procalcitonin (8.0 ng/ml) and C-reactive protein (19 mg/dl). Chest imaging showed inflammation and decreased translucency in both lungs but no thymus shadow. Various serology tests, the 1,3-beta-D-glucan test, culture, as well as sputum smear failed to detect any pathogens. mNGS with blood helped identify 133 specific nucleic acid sequences of Pneumocystis jirovecii, suggesting an infection with this pathogen. After treatment with trimethoprim-sulfamethoxazole for 5 days, the patient's condition improved, but the child still needed ventilator support. Unfortunately, the child died soon after because of respiratory failure after his parents decided to abandon treatment. The family declined an autopsy on the child, and therefore, an anatomical diagnosis could not be obtained. Whole-exome sequencing suggested X-linked immunodeficiency. A hemizygous mutation of c.865c > t (p.r289*) was detected in the IL2RG gene, which was inherited from the mother (heterozygous state).
Conclusion:
This case report highlights the value of mNGS in diagnosing PCP when conventional diagnostic methods fail to identify the agent. Early onset of recurrent infectious diseases may indicate the presence of an immunodeficiency disease, for which timely genetic analysis and diagnosis are crucial.