OpenMed/multicare-articles huggingface dataset:
S-shaped wide excision with primary closure for extensive chronic pilonidal sinus disease
Authors: Kerem Karaman, Safak Ozturk, Cem Tugmen, Eyup Kebapcı, Sait Murat Dogan, Mutlu Unver, Mustafa Olmez, Cengiz Aydin
Journal: Case Rep Surg (2014)

Background. The management of complex pilonidal sinus disease (PSD) with multiple pits on and beside the natal cleft is variable, contentious, and problematic. Wide excision of the sinus and reconstruction of the defect using different flap techniques have become more popular in recent years. Case Report. We report a case with a complex chronic PSD to which we applied primary closure after S-shaped wide excision. The patient's postoperative course was uneventful, and at the end of one-year followup he is now disease-free and comes for routine checkups. Conclusion. The simplicity of the technique and the promising results support the applicability of the S-shaped wide excision in chronic bilaterally extended large PSDs. Further studies entailing large patient populations are needed to reach a definite conclusion.
Pertussis Reinfection in an Adult: A Cause of Persistent Cough Not to Be Ignored
Authors: Theocharis Koufakis, Anastasia Paschala, Dimitrios Siapardanis
Journal: Case Rep Infect Dis (2017)
MeSH terms: Case Reports

Pertussis is traditionally considered as a disease of the childhood; however, accumulating evidence suggests a stable increase of its incidence among adults and adolescents, during the last decades. Despite the fact that reinfection after natural disease or vaccination is not uncommon, the index of clinical suspicion of pertussis diagnosis in adults remains low. In this article, we report a case of pertussis reinfection 30 years after natural infection, which was complicated by pneumonia, and we discuss our diagnostic and therapeutic approach, aiming to raise clinicians' degree of suspicion regarding pertussis diagnosis in adults. Prompt recognition and appropriate therapy of adult patients can result in the effective control of the symptoms, prevention of severe complications, and spread of the infection to children; thus, they are of great clinical and public health importance.
A ruptured uterus in a pregnant woman not in labor
Authors: Damien Punguyire, Kenneth Victor Iserson
Journal: Pan Afr Med J (2011)
Keywords: ghana, pregnancy, grand multiparity, nurse education, ruptured uterus, ultrasound diagnosis
MeSH terms: Health Services Accessibility, Pregnancy Complications / physiopathology, Uterine Rupture / physiopathology, Case Reports, Adult, Female, Ghana, Humans, Maternal Mortality, Pregnancy, Pregnancy Complications / prevention & control, Transportation, Uterine Rupture / prevention & control

Reducing maternal mortality constitutes one of the eight Millennium Development Goals. While significant progress has been made, system issues and professional training continue to affect maternal survival, especially when unusual, but deadly, complications arise. This rare case of survival after the rupture of an unscarred uterus in a grand multiparous woman from a remote village in Ghana illustrates how systemic transportation issues and limited access to advanced medical care put women with obstetric complications at risk. The usual clinical presentation of ruptured uteri and methods to prevent this catastrophic event are discussed. This case illustrates the systemic transportation issue that often limits access to prenatal and emergency care throughout much of the developing world and demonstrates how advanced training for emergency nurses and the use of ultrasound diagnosis can expedite difficult diagnoses and lead to maternal survival, even in the most adverse circumstances.
Postradiation Histiocytic Sarcoma in the Setting of Muir-Torre Syndrome
Authors: Erin Baumgartner, David Ullman, Jeffrey Adam Jones, Danielle Fasciano, Daniel S Atherton, Peter Pavlidakey, Deniz Peker
Journal: Case Rep Pathol (2018)
MeSH terms: Case Reports

Hereditary nonpolyposis colorectal carcinoma (HNPCC) is an autosomal dominant genetic disorder characterized by a predisposition towards colorectal carcinoma and other extracolonic neoplasms. Histiocytic sarcoma (HS) is a very rare hematologic neoplasm characterized by a malignant proliferation of cells with histiocytic differentiation. We present the case of a 62-year-old male with previous diagnosis of MTS who presented with metastatic colorectal adenocarcinoma, bilateral papillary renal cell carcinoma, and a new squamous cell carcinoma of the scalp, treated with resection and adjuvant radiation therapy. After reconstructive surgery for his scalp resection, the patient developed a persistent nonhealing skin defect. A punch biopsy of this nonhealing skin defect and subsequent immunohistochemistry revealed neoplastic histiocytic cells restricted to the epidermis and underlying dermis. The diagnosis of cutaneous histiocytic sarcoma was then rendered. Histiocytic sarcoma is an exceptionally rare malignancy. Consequently, there is no universally agreed upon management protocol for this malignancy. The patient was admitted to hospice and treated with palliative radiation. This case demonstrates the need for awareness of the risk of secondary malignancies in cancer patients in order to facilitate early surgical intervention and optimal treatment.
Domestic Horse Bite: An Unusual Etiology of Crush Injury of the Fourth Finger-How to Manage?
Authors: Naoufal Elghoul, Youssef Jalal, Ayoub Bouya, Ali Zine, Abdeloihab Jaafar
Journal: Case Rep Infect Dis (2019)
MeSH terms: Case Reports

Almost 2% of all emergency admissions involve an animal bite. While horses bite humans very rarely, their bites are mostly associated with fatalities. Herein, we report the case of a 23-year old bitten by a domestic horse causing a crush injury to his fourth finger with fracture dislocation of the proximal interphalangeal joint. The patient benefited upon arrival at the emergency department from copious irrigation with saline serum, tetanus toxoid, postexposure rabies vaccination, and prophylactic antibiotic therapy. In the operating room, surgical exploration found the ulnar digital pedicle sectioned, the flexor and extensor tendons sectioned and shredded, and the skin shredded. An excisional debridement of devitalized tissue with copious irrigation was performed, and the finger regularized at the level of traumatic amputation with tendon striping followed by coverage of the bone by the radial digital flap with careful clinical and biological monitoring after the surgery. At the last follow-up, the patient revealed no sign of infection, and he returned to his usual activities and has been discharged from care. This wound management, based on a careful examination, a meticulous debridement, and an efficient cleaning with early and targeted antibiotic therapy, might promote good results and avoid dangerous complications.
Herpes Simplex Virus and Human Papillomavirus Coinfections in Hyperimmunoglobulin E Syndrome Presenting as a Conjunctival Mass Lesion
Authors: Mitra Akbari, Ramin Elmi
Journal: Case Rep Med (2017)
MeSH terms: Case Reports

Hyperimmunoglobulin E syndrome (HIES) or Job's syndrome is a rare immunodeficiency disease with less than 200 cases reported worldwide, among which few cases are reported with lesions due to herpes simplex virus (HSV) or human papillomavirus (HPV). This case study presents a rare case of HIES with coinfection of HSV and HPV. A 12-year-old boy, previously diagnosed with HIES, presented with a large conjunctival mass lesion. The presence of HPV in the lesion was confirmed by biopsy and by using the line-probe assay method to detect the HPV genome. However, the mass lesion did not respond to anti-HPV therapy with topical interferon-α2b (IFN-α2b) and oral cimetidine but improved promptly after intravenous (IV) acyclovir, which is often administered for cutaneous herpetic lesions. This suggested the presence of HSV in the conjunctival mass. Review of pathology and HSV immunohistochemical staining confirmed the presence of HSV as a coinfection. The likelihood that the mass arose from an abnormal host response to HSV and HPV due to HIES was considered, but coexisting infection with these two viruses and HIES has not been reported in the literature; therefore, such cases require further investigation.
Chronic Inflammatory Arthropathy Preceding Acute Systemic Manifestations of Sarcoidosis: A Possible Overlap of Idiopathic Juvenile Arthritis and Sarcoidosis
Authors: Matheus Campello Vieira, Priscilla Gomes Tosta, Fernanda Morello Nicole, Lucas Enock V Roberto, Júlia Guasti P Vianna, Paulo de Coelho Castro, Rafael Burgomeister Lourenço, Erica Vieira Serrano, Valéria Valim, Weverton Machado Luchi
Journal: Case Rep Rheumatol (2019)
MeSH terms: Case Reports

Sarcoidosis is a multisystem disease with unknown etiology, marked by T lymphocytes and macrophages agglomeration, which leads to the formation of noncaseating granulomas in the affected tissues. We describe a case of a 40-year-old black patient referred to our service for evaluation of nephrolithiasis and persistent elevation of plasma creatinine. He reported important weight loss, fever episodes, and abdominal and low back intermittent pain in the past 6 months. The investigation revealed elevated serum calcium level, hepatosplenomegaly, retroperitoneal lymphadenopathy, anemia, thrombocytopenia, and nephrolithiasis. The initial diagnostic hypothesis was lymphoproliferative disease, but the laparoscopic propaedeutic showed multiple white lesions on the liver surface, which biopsy identified as noncaseating granulomas with asteroid corpuscles, suggestive of sarcoidosis. He was treated with corticosteroids with significant improvement in symptoms and in calcium and creatinine levels. Besides, the patient presented a long-term large joints arthropathy, especially on the knees (with bilateral prosthesis), wrists, and ankles, of unknown etiology. We discuss the systemic manifestations of sarcoidosis related to the reported case, as well as the possible overlapping of idiopathic juvenile arthritis with sarcoidosis.
Osteoradionecrosis of the Temporal Bone Leading to Cerebellar Abscess
Authors: Thomas B Layton
Journal: Case Rep Otolaryngol (2017)
MeSH terms: Case Reports

Squamous cell carcinoma of the temporal bone is a rare and destructive malignancy and represents both diagnostic and therapeutic challenge. The complex regional anatomy of the temporal bone requires equally intricate surgical techniques to adequately resect the tumour mass during surgical excision. Adjuvant radiotherapy is offered to patients with advanced disease and has been showed to confer a survival benefit in carefully selected patients. One feared complication of radiotherapy is osteoradionecrosis and is a major obstacle faced in the treatment of head and neck cancers. The case presented here is a rare example of a patient who was successfully treated for SCC of the temporal with both surgical resection and adjuvant radiotherapy who subsequently developed two major complications: first, osteoradionecrosis of the temporal bone that leads to penetrating osteomyelitis; second, the formation of a large cerebellar abscess that required surgical drainage. This case is a rare example of the complications that are possible following radiotherapy to the head and the close follow-up that is required in patients.
Recovery from Cogwheel Rigidity and Akinesia and Improvement in Vibration Sense and Olfactory Perception following Removal of an Epoxy-Oleic Acid DNA Adduct
Authors: Jean A Monro, John McLaren-Howard, Mussadiq Shah, Peter O O Julu, Basant K Puri
Journal: Case Rep Med (2017)
MeSH terms: Case Reports

The epoxy fatty acid cis-12,13-epoxy-oleic acid, which acts as a DNA adduct, may be generated during long-term storage of many seed oils, including those used in cooking, with frying oils and fried foods being a major source in the modern human diet. Removal of this epoxy fatty acid from the locus of the N-formyl peptide receptors was associated with recovery from cogwheel rigidity and akinesia as well as with improvement in vibration sense and olfactory perception.
A Large Left Ventricle Myxoma: Presenting with Epigastric Pain and Weight Loss
Authors: Solmaz Fakhari, Eissa Bilehjani
Journal: Case Rep Cardiol (2016)
MeSH terms: Case Reports

Cardiac myxomas are the most common benign tumors found in the heart. They usually appear in the left atrium. Those originating from the left ventricle (LV) are rare. Although clinical presentation may vary, dyspnea and embolism are the most commonly reported symptoms. In the present case study, a 27-year-old woman with a large myxoma originating from the left ventricular free wall is studied. She had atypical complaints, mainly epigastric discomfort, nausea, vomiting, and anorexia. She was hospitalized for acute abdomen, but subsequent investigations revealed a large myxoma that fully filled the LV and severely compromised the flow of the aortic and mitral valves. After successful emergency tumor resection, all symptoms disappeared. The uncommon presentation caused by these tumors is discussed in this study.
Lymphomatoid Granulomatosis in a Patient with Chronic Lymphocytic Leukemia and Rapidly Progressing Peribronchovascular Pulmonary Infiltrates
Authors: Shahab Rezvani, Marie Tominna, Sayf Al-Katib, Marc D Smith, Craig Cousineau, Ayad Al-Katib
Journal: Case Rep Pulmonol (2019)
MeSH terms: Case Reports

Lymphomatoid granulomatosis (LG) is an EBV-associated angiodestructive lymphoproliferative disease with multiorgan involvement that predominantly affects the lungs. We present a case of a 72-year-old man with a history of chronic lymphocytic leukemia who presented with upper respiratory symptoms and multiple erythematous skin papules. Chest CT showed ill-defined, irregular solid pulmonary nodules with peripheral ground-glass opacities in a peribronchovascular distribution. The differential for this pattern of lung disease is vast which includes but is not limited to infection, vasculitis, sarcoidosis, lymphoma, and Kaposi sarcoma. Subsequent PET/CT showed rapid progression of lung opacities and marked FDG uptake of pulmonary opacities and skin nodules, which raised the question of Richter syndrome. Wedge biopsy under video-assisted thoracoscopic surgery was performed. Pathology showed an extensive lymphoid infiltrate involving lymphatic and bronchovascular bundles and consisting of a mixture of large lymphocytes and inflammatory cells. Special stains showed that the large lymphocytes expressed B-cell markers and EBV virus. Overall, the findings were consistent with LG.
Porcelain atrium: a case report with literature review
Authors: Krystle Leacock, Andre J Duerinckx, Bonnie Davis
Journal: Case Rep Radiol (2011)
MeSH terms: Case Reports

Massive left atrial wall calcification, or porcelain atrium, is very rare. We describe a case of an unusual pattern of cardiac calcification demonstrated on routine preoperative chest X-ray for cataract surgery in a 71-year-old Nigerian woman. Past medical history was significant for mitral stenosis and atrial fibrillation. Radiographic imaging revealed curvilinear high density areas of calcification outlining the left atrium on the chest X-ray. Noncontrast CT scan of the thorax confirmed the left atrial distribution of calcification and, thus, the diagnosis of porcelain left atrium.
Case Report: First longitudinal study of a patient with CALR positive clonal hematopoiesis of indeterminate potential developing into pre-fibrotic myelofibrosis
Authors: Lasse Kjær, Vibe Skov, Morten Kranker Larsen, Tobias Idor Boklund, Morten Andersen, Maria Kefala, Trine A Knudsen, Christina Schjellerup Eickhardt-Dalbøge, Thomas Stiehl, Johanne Gudmand-Høyer, Jordan Snyder, Morten Holmström, Mads H Andersen, Johnny T Ottesen, Christina Ellervik, Hans C Hasselbalch
Journal: Front Oncol (2023)
Keywords: calr, mpn, case report, clonal hematopoiesis, myelofibrosis
MeSH terms: Case Reports

Initial diagnosis of overt myeloproliferative neoplasms (MPNs) represents the juncture during clonal evolution when symptoms or complications prompt an afflicted individual to seek medical attention. In 30-40% of the MPN subgroups essential thrombocythemia (ET) and myelofibrosis (MF), somatic mutations in the calreticulin gene (CALR) are drivers of the disease resulting in constitutive activation of the thrombopoietin receptor (MPL). In the current study, we describe a healthy CALR mutated individual during a 12 year follow-up from initial identification of CALR clonal hematopoiesis of indeterminate potential (CHIP) to the diagnosis of pre-MF. The pre-diagnostic exponential development dynamics of the malignant clone demonstrated close correlation with the platelet counts, neutrophil-to-lymphocyte (NLR) ratio, and inversely correlated to hemoglobin and erythrocyte counts. Backward extrapolation of the growth rate indicated the potential for discovery of the malignant clone many years prior to presentation of overt disease, opening a window of opportunity for early treatment intervention. We did not find any additional mutations associated with MPNs and the current case report provides novel information regarding the development of a driver mutation and the association with blood cell counts prior to clinical manifestation of symptoms suggesting that pre-diagnostic dynamics may supplement future diagnostic criteria for early diagnosis and intervention in MPN patients.
A novel PITX2 mutation in a Chinese family with Axenfeld-Rieger syndrome
Authors: Dandan Li, Qingguo Zhu, Hui Lin, Nan Zhou, Yanhua Qi
Journal: Mol Vis (2008)
MeSH terms: Asian People / genetics, Eye Abnormalities / genetics, Homeodomain Proteins / genetics, Mutation / genetics, Transcription Factors / genetics, Case Reports, Adult, Amino Acid Sequence, Base Sequence, China, DNA Mutational Analysis, Eye Abnormalities / pathology, Family, Female, Homeodomain Proteins / chemistry, Humans, Male, Molecular Sequence Data, Pedigree, Sequence Alignment, Syndrome, Transcription Factors / chemistry, Homeodomain Proteins, Transcription Factors, homeobox protein PITX2

Purpose:
Axenfeld-Rieger syndrome (ARS) is an autosomal dominant disorder characterized by extraocular anomalies and developmental defects of the anterior segment. PITX2 (paired-like homeodomain transcription factor 2) is considered the major causative gene. In this study, we characterized the molecular defect in PITX2 in a Chinese family with ARS.
Methods:
Two generations of the family with ARS were enrolled in the present study. In addition to ophthalmologic examinations, polymerase chain reaction (PCR) amplification and nucleotide sequencing of all coding exons of PITX2 were performed. Exon 5 (region 1) was also sequenced in 100 healthy controls unrelated to the family for comparison.
Results:
A novel PITX2 mutation, c.840G>T, was identified in all affected members of the family with ARS that causes an amino acid substitution from tryptophan to cysteine at codon 86.
Conclusions:
We found a novel p.W86C mutation in PITX2 in a Chinese family with ARS. The tryptophan residue at position 86 is strictly conserved in PITX2a proteins from several species and in homeodomain proteins. We suggest that this mutation in PITX2 is the cause of typical ARS in patients. Our results may be useful for better understanding of the spectrum of PITX2 mutations and the role of PITX2 in the development and progression of ARS.
Response after treatment with pembrolizumab in a patient with myelophthisis due to melanoma: the role of checkpoint inhibition in the bone
Authors: Samuel Rosner, Filiz Sen, Michael Postow
Journal: J Immunother Cancer (2017)
Keywords: bone marrow, immune checkpoint inhibition, melanoma, myelophthisis, pd-1 inhibitor, pembrolizumab
MeSH terms: Anemia, Myelophthisic / etiology, Antibodies, Monoclonal, Humanized / therapeutic use, Bone and Bones / pathology, Melanoma / drug therapy, Case Reports, Anemia, Myelophthisic / drug therapy, Antibodies, Monoclonal, Humanized / administration & dosage, Antibodies, Monoclonal, Humanized / pharmacology, Humans, Male, Melanoma / pathology, Middle Aged, Antibodies, Monoclonal, Humanized, pembrolizumab

Background:
Myelophthisis due to melanoma is a rare phenomenon. Treatment strategies for patients with this serious complication of malignancy have not been well documented, and none have previously reported efficacy of immune checkpoint inhibition. Since bone metastases are not measurable lesions per standard response criteria, the efficacy of immune checkpoint inhibition in the bones is also not well described.
Case presentation:
We describe a patient with widespread melanoma metastases involving the bone marrow causing myelophthisis and pancytopenia who responded to immune checkpoint inhibition with the anti-programmed cell death-1 (PD-1) inhibitor pembrolizumab.
Conclusions:
This is the first report to our knowledge of disease response to immune checkpoint inhibition in a patient with myelophthisis. Clinical trials have recently emerged describing the efficacy of PD-1 inhibition for disorders regularly involving the bone marrow, such as hematologic malignancies, suggesting the importance of better understanding the bone marrow as an immunologically active compartment. Clinicians should be aware that immune checkpoint inhibition alone may be effective in treating malignancy involving the bone marrow, even in cases of extensive involvement resulting in pancytopenia due to myelophthisis from a solid tumor as our case suggests.
Diagnostic, Treatment, and System Challenges in the Management of Recurrent Neuroleptic Malignant Syndrome on a General Medical Service
Authors: Karan Verma, Vivek Jayadeva, Raymond Serrano, Karthik Sivashanker
Journal: Case Rep Psychiatry (2018)
MeSH terms: Case Reports

Neuroleptic malignant syndrome (NMS), an iatrogenic form of malignant catatonia, carries high morbidity and mortality rates especially in the context of delayed recognition and standard intervention protocol of lorazepam trial. However, there is limited guidance available through literature for further management if benzodiazepine treatment is ineffective and electroconvulsive therapy (ECT) is not readily accessible. This case report describes a multimodal approach to address the diagnostic, treatment, and logistical system challenges in an acute medical hospital through the case of a 69-year-old man with schizophrenia who represented from a psychiatric ward with neuroleptic malignant syndrome. We educated our inpatient colleagues for timely recognition of hyperexcited subtype of catatonia to avoid iatrogenic progression to neuroleptic malignant syndrome and our medical colleagues on the clinical course of catatonic symptoms to avoid any further disagreements and delays in treatment. We advocated for timely electroconvulsive therapy in the setting of limited access and utilized creative pharmacologic strategies such as N-methyl-D-aspartate (NMDA) receptor antagonists and longer acting benzodiazepines while managing medical complications.
Subjective visual vertical and horizontal abnormalities in a patient with lateral medullary syndrome-a case report
Authors: Amit Kumar Tyagi, Gaurav Ashish, Anjali Lepcha, Achamma Balraj
Journal: Iran J Otorhinolaryngol (2015)
Keywords: caloric tests, cerebrovascular accident (cva), lateral medullary syndrome, vestibular function tests
MeSH terms: Case Reports

Introduction:
Evaluation of persistent vertigo in post infarct patients is very important as the management depends on whether the cause is purely of central origin or due to associated vestibular affliction.
Case report:
A patient with left sided dorsolateral medullary syndrome and persistent vestibular symptoms was evaluated. Vestibular test battery showed abnormal smooth pursuit, bilateral hyperactive caloric responses, and abnormal dynamic subjective visual vertical and dynamic subjective visual horizontal tests.
Conclusion:
Dorsolateral medullary infarctions (Wallenberg's syndrome) typically cause a central vestibular tonus imbalance in the roll plane with ipsilateral deviations of perceived vertical orientation. The SVV and SVH tests may have a role in localizing the pathology in a patient with lateral medullary syndrome.