OpenMed/multicare-articles huggingface dataset:
Metastatic Crohn's disease of the ear
Authors: J H Chuah, D S Kim, C Allen, L Hollis
Journal: Int J Otolaryngol (2009)
MeSH terms: Case Reports

Objective. We reported a very rare case of metastatic Crohn's disease involving the retro-auricular region. Method. A case report and a review of literature concerning metastatic Crohn's disease. Results. Metastatic Crohn's disease is an uncommon extraintestinal cutaneous manifestation of Crohn's disease and a very rare case involving the retro-auricular region is reported here. Given the limited existing literature little is known about this condition. The skin lesions appear to have a predilection for the lower trunk and genitalia regions. There is no clear association with the severity of Crohn's disease and in some cases, the cutaneous lesions predate the onset of gastrointestinal Crohn's disease. Treatment with immune-modulating medications together with the antitumour necrosis factor monoclonal antibody therapy appears to offer the best chance of remission. Conclusion. By reporting this interesting and rare condition we also hope to highlight the importance of considering underlying chronic systemic disorders, such as Crohn's disease, when presented with skin lesions resistant to simple local treatments.
Multiple Electrolyte and Metabolic Emergencies in a Single Patient
Authors: Caprice Cadacio, Phuong-Thu Pham, Ruchika Bhasin, Anita Kamarzarian, Phuong-Chi Pham
Journal: Case Rep Nephrol (2017)
MeSH terms: Case Reports

While some electrolyte disturbances are immediately life-threatening and must be emergently treated, others may be delayed without immediate adverse consequences. We discuss a patient with alcoholism and diabetes mellitus type 2 who presented with volume depletion and multiple life-threatening electrolyte and metabolic derangements including severe hyponatremia (serum sodium concentration [SNa] 107 mEq/L), hypophosphatemia ("undetectable," <1.0 mg/dL), and hypokalemia (2.2 mEq/L), moderate diabetic ketoacidosis ([DKA], pH 7.21, serum anion gap [SAG] 37) and hypocalcemia (ionized calcium 4.0 mg/dL), mild hypomagnesemia (1.6 mg/dL), and electrocardiogram with prolonged QTc. Following two liters of normal saline and associated increase in SNa by 4 mEq/L and serum osmolality by 2.4 mosm/Kg, renal service was consulted. We were challenged with minimizing the correction of SNa (or effective serum osmolality) to avoid the osmotic demyelinating syndrome while replacing volume, potassium, phosphorus, calcium, and magnesium and concurrently treating DKA. Our management plan was further complicated by an episode of significant aquaresis. A stepwise approach was strategized to prioritize and correct all disturbances with considerations that the treatment of one condition could affect or directly worsen another. The current case demonstrates that a thorough understanding of electrolyte physiology is required in managing complex electrolyte disturbances to avoid disastrous outcomes.
Successful coronary stent retrieval from the saphenous vein graft to right coronary artery
Authors: Mustafa Aydin, Muhammet Rasit Sayin
Journal: Case Rep Med (2009)
MeSH terms: Case Reports

Stent dislodgement and migration is a rare but serious complication of stent usage. For extraction of unexpanded stents different techniques have been described previously. We describe a case which used small baloon catheter for retrieval of a stent from the SVG-RCA.
Neurofibromatosis Type 1: A Novel NF1 Mutation Associated with Mitochondrial Complex I Deficiency
Authors: Sara Domingues, Lara Isidoro, Dalila Rocha, Jorge Sales Marques
Journal: Case Rep Genet (2014)

Background. Neurofibromatosis type 1 is a multisystemic, progressive disease, with an estimated incidence of 1/3500-2500. Mitochondrial diseases are generally multisystemic and may be present at any age, and the global prevalence is 1/8500. The diagnosis of these disorders is complex because of its clinical and genetic heterogeneity. Case Report. We present a rare case of the association of these two different genetic diseases, in which a heterozygous missense mutation in the NF1 gene was identified which had not yet been described (p.M1149 V). Additionally, the patient is suspected of carrying an unspecified mutation causing respiratory chain complex I deficiency. Clinical presentation included hypotonia, global development delay, reduced growth rate, progressive microcephaly, and numerous café-au-lait spots. Discussion. To the best of our knowledge this is the first report of complex I deficiency in a patient with neurofibromatosis type 1. It is very important to maintain a high index of suspicion for the diagnosis of mitochondrial disorders. In this patient, both the laboratory screening and muscle histology were normal and only the biochemical study of muscle allowed us to confirm the diagnosis.
Graves' disease and treatment effects on warfarin anticoagulation
Authors: Amanda Howard-Thompson, Alexis Luckey, Christa George, Beth A Choby, Timothy H Self
Journal: Case Rep Med (2014)

Background. Hyperthyroidism causes an increased hypoprothrombinemic response to warfarin anticoagulation. Previous studies have demonstrated that patients with hyperthyroidism require lower dosages of warfarin to achieve a therapeutic effect. As hyperthyroidism is treated and euthyroidism is approached, patients may require increasing warfarin dosages to maintain appropriate anticoagulation. We describe a patient's varying response to warfarin during treatment of Graves' disease. Case Presentation. A 48-year-old African American female presented to the emergency room with tachycardia, new onset bilateral lower extremity edema, gradual weight loss, palpable goiter, and generalized sweating over the prior 4 months. She was admitted with Graves' disease and new onset atrial fibrillation. Primary stroke prophylaxis was started using warfarin; the patient developed a markedly supratherapeutic INR likely due to hyperthyroidism. After starting methimazole, her free thyroxine approached euthyroid levels and the INR became subtherapeutic. She remained subtherapeutic over several months despite steadily increasing dosages of warfarin. Immediately following thyroid radioablation and discontinuation of methimazole, the patient's warfarin dose and INR stabilized. Conclusion. Clinicians should expect an increased response to warfarin in patients with hyperthyroidism and close monitoring of the INR is imperative to prevent adverse effects. As patients approach euthyroidism, insufficient anticoagulation is likely without vigilant follow-up, INR monitoring, and increasing warfarin dosages.
A massive pleural-based desmoid tumour
Authors: Talha Mahmud, Guness Mal, Farhan Ahmed Majeed, Siaw Ming Chai, Y C Gary Lee
Journal: Respirol Case Rep (2016)
Keywords: desmoid, effusion, mesothelial, pleura
MeSH terms: Case Reports

A 49-year-old Pakistani male presented with "heaviness" in his chest. Chest radiograph and computed tomography (CT) confirmed a massive left-sided pleural-based opacity. Three years ago, he was investigated for a left-sided lymphocytic, exudative pleural effusion following an episode of dengue fever. Tube thoracostomy removed 1.3 L of fluid. Pleural biopsy and bronchial washings were non-contributory. He received empirical anti-tuberculosis treatment and remained asymptomatic until this presentation. To investigate the new pleural mass, he underwent a video-assisted thoracoscopic surgery, which revealed a 2.2 kg mass in the pleural cavity involving the anterior mediastinum and chest wall and adhered to the visceral pleura. Following conversion to an open thoracotomy, the mass was completely excised, which involved non-anatomical lung resection. Histopathology and immunohistochemistry of the resected tumour were consistent for a desmoid tumour. He was followed up for 9 months with no evidence of tumour recurrence. Predominantly pleural-based desmoid tumour is rare but should be included in the differential diagnosis of spindle cell tumours.
Eleven Primary Melanomas, Colon Cancer, and Atypical Nevi in the Same Patient: A Case Report and Literature Review
Authors: Lea Juul Nielsen, Lisbet Rosenkrantz Hölmich
Journal: Case Rep Dermatol Med (2016)

Background. As the incidence of cutaneous malignant melanoma increases in the Caucasian population, an increasing population of melanoma survivors is at risk of developing multiple primary melanomas (MPM) as well as secondary primary cancers. Objective. To present a case of a patient with atypical nevi, 11 primary melanomas over 33 years, and colon cancer and to review the literature on multiple primary melanomas, atypical nevi, and correlation of nonmelanoma cancers. Conclusion. The literature indicates that patients with MPM are not uncommon, although 11 primary melanomas are rarely described, that patients with MPM may have a better survival than patients with single primary melanoma, that atypical nevi are a risk marker of not only melanoma in general but also MPM, and that melanoma patients have a significantly increased risk of developing nonmelanoma skin and other cancers, which may be even higher for patients with MPM.
Early-onset basal cell carcinoma; wide case series at a single tertiary center in middle Anatolia
Authors: Ayse Nur Ugur Kilinc, Zeynep Bayramoglu, Yasar Unlu
Journal: North Clin Istanb (2022)
Keywords: basal cell carcinoma, early-onset, young patients

Objective:
Although basal cell carcinoma (BCC) is prevalent in the older population, it can be rarely seen in younger people. This study aims to investigate the risk factors and characteristics of BCC in young patients.
Methods:
Pathology reports in a single tertiary care institution between 2010 and 2020 were retrospectively reviewed. Patients under the age of 35 who were diagnosed with BCC were included for the analysis. Data were gathered from medical records and pathology reports. Demographic characteristics, accompanying pathologies, and clinical findings of these patients were analyzed.
Results:
There were a total of 32 patients in our cohort. Out of 32 patients, 20 were female and 12 were male. One male patient and five female patients were younger than 18. An accompanying risk factor (Gorlin syndrome, XP, renal transplantation, etc.) was present in six patients. There were no known additional diseases or risk factors in 26 patients. Metastasis and recurrence were not reported in any of our patients. Contrary to the information in the literature, the patients with BCC at a young age were not found more aggressive in our study.
Conclusion:
Contrary to the information in the literature, the patients with BCC at a young age were not found more aggressive in our study. Understanding the risk factors associated with BCC is essential for designing prevention strategies and favoring early diagnosis. Awareness of early-onset BCC aids in early diagnosis and treatment of the disease. Therefore, BCC should be in the differential diagnosis of skin lesions in the young population. In addition, when we encounter early-onset BCC, we should not forget the accompanying risk factors and syndromes.
Case Report: A novel mutation in WFS1 gene (c.1756G>A p.A586T) is responsible for early clinical features of cognitive impairment and recurrent ischemic stroke
Authors: Yuan Chen, Miao Zhang, Yuying Zhou, Pan Li
Journal: Front Genet (2023)
Keywords: wfs1 gene mutation, cognitive impairment (ci), ischemic cerebral infarction, neurodegeneration, wolframin protein
MeSH terms: Case Reports

Wolfram syndrome 1 (WFS1) gene mutations can be dominantly or recessively inherited, and the onset of the clinical picture is highly heterogeneity in both appearance and degree of severity. Different types of WFS1 mutations have been identified. Autosomal recessive mutations in the WFS1 gene will underlie Wolfram syndrome 1 (WS1), a rare and severe neurodegenerative disease characterized by diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and other neurological, urological and psychiatric abnormalities. Other WFS1-related disorders such as low-frequency sensorineural hearing impairment (LFSNHI) and Wolfram syndrome-like disease with autosomal dominant transmission have been described. It is difficult to establish genotype-phenotype correlations because of the molecular complexity of wolframin protein. In this report, we presented a case of WSF1 gene mutation-related disease with cognitive impairment as the initial symptom and recurrent cerebral infarction in the course of the disease. Brain structural imaging results suggested decreased intracranial volume, dramatically reduced in cerebral cortex and cerebellum regions. Multimodal molecular imaging results suggested Tau protein deposition in the corresponding brain regions without Aβ pathology changes. These pathological changes may indicate a role of WFS1 in neuronal vulnerability to tau pathology associated with neurodegeneration and ischemia-induced damage.
A Method for Evaluating Three-Dimensional Morphological Features: A Case Study Using Marchantia polymorpha
Authors: Tomoyuki Furuya, Yoshitaka Kimori, Hirokazu Tsukaya
Journal: Front Plant Sci (2019)
Keywords: marchantia polymorpha, liverworts, mathematical image processing, micro-computed tomography, three-dimensional imaging

The description and evaluation of morphological features are essential to many biological studies. Bioimaging and quantification methods have been developed to analyze the morphological features of plants. However, efficient three-dimensional (3D) imaging and its quantification are still under development, particularly for studies of plant morphology, due to complex organ structure with great flexibility among individuals with the same genotype. In this study, we propose a new approach that combines a 3D imaging technique using micro-computed tomography and a mathematical image-processing method to describe 3D morphological features. As an example, we applied this method to Marchantia polymorpha, a new model plant used for the evolutional study of land plants, and we evaluated a mutant individual with an abnormal 3D shape. Using this new method, we quantitatively described the thallus morphology of M. polymorpha and distinguished the wild type from a mutant with different morphological features. Our newly established method can be applied to various tissues or bodies with irregular 3D morphology.
Utility of Iron Staining in Identifying the Cause of Renal Allograft Dysfunction in Patients with Sickle Cell Disease
Authors: Yingchun Wang, Mona Doshi, Salman Khan, Wei Li, Ping L Zhang
Journal: Case Rep Transplant (2015)

Sickle cell nephropathy (SCN) is associated with iron/heme deposition in proximal renal tubules and related acute tubular injury (ATI). Here we report the utility of iron staining in differentiating causes of renal allograft dysfunction in patients with a history of sickle cell disease. Case 1: the patient developed acute allograft dysfunction two years after renal transplant. Her renal biopsy showed ATI, supported by patchy loss of brush border and positive staining of kidney injury molecule-1 in proximal tubular epithelial cells, where diffuse increase in iron staining (2+) was present. This indicated that ATI likely resulted from iron/heme toxicity to proximal tubules. Electron microscope confirmed aggregated sickle RBCs in glomeruli, indicating a recurrent SCN. Case 2: four years after renal transplant, the patient developed acute allograft dysfunction and became positive for serum donor-specific antibody. His renal biopsy revealed thrombotic microangiopathy (TMA) and diffuse positive C4d stain in peritubular capillaries. Iron staining was negative in the renal tubules, implying that TMA was likely associated with acute antibody-mediated rejection (AAMR, type 2) rather than recurrent SCN. These case reports imply that iron staining is an inexpensive but effective method in distinguishing SCN-associated renal injury in allograft kidney from other etiologies.
Less invasive treatment for broad ligament hernia: A case report
Authors: Tetsuo Sugishita, Shunsuke Kato, Aoi Ishikawa, Hidenori Takahashi, Yasuyuki Kawachi
Journal: Int J Surg Case Rep (2020)
Keywords: bowel, laparoscopic surgery, obstruction, uterus
MeSH terms: Case Reports

Introduction:
Among diseases that cause small bowel obstruction, internal hernia may result in severe outcomes. Therefore, emergency laparotomy has been often performed, but it may be invasive. We experienced a case of a broad ligament hernia of the uterus, which is relatively rare among the cases of internal hernia that were treated by less invasive laparoscopic surgery.
Case presentation:
A 71-year-old woman came to our hospital because of abdominal pain and vomiting. Abdominal computed tomography (CT) revealed a broad ligament hernia of the uterus without intestinal ischemia. Intestinal decompression was done by inserting an ileus tube (® Long Intestinal Tube, CLINY), followed by elective laparoscopic surgery.
Discussion:
If intestinal ischemia can be ruled out, a less invasive laparoscopic surgery may be performed after intestinal decompression. Further, by detecting the cause of internal hernia, more safe and smooth surgery can be performed. These findings highlighted the importance of accurate CT diagnosis.
Conclusion:
In order to perform laparoscopic surgery for internal hernia, evaluation of the presence or absence of intestinal ischemia and detection of the cause of obstruction by preoperative abdominal CT are important.
Granulomatous Pneumocystis jiroveci Pneumonia in an HIV-Positive Patient on Antiretroviral Therapy: A Diagnostic Challenge
Authors: Montserrat Diaz-Abad, Kathryn S Robinett, Anayansi Lasso-Pirot, Teklu B Legesse, Mariam Khambaty
Journal: Open Respir Med J (2021)
Keywords: antiretroviral therapy, biopsy, diagnosis, granulomatous, human immunodeficiency virus, lung mass, pneumocystis jiroveci pneumonia
MeSH terms: Case Reports

Human Immunodeficiency Virus (HIV)-related Opportunistic Infections (OI), including Pneumocystis jiroveci pneumonia (PCP), have become much less commonplace with anti-retroviral therapy (ART). Despite this, OIs are still common and it is important to remain vigilant for their presence and be aware of how ART and OI chemoprophylaxis may lead to atypical disease presentations. We present the case of a 51-year-old woman with HIV and CD4+ T helper lymphocytes cell count > 200 cells/ul on both ART and trimethoprim/sulfamethoxazole prophylaxis who presented with cavitating lung masses, mediastinal lymphadenopathy and pleural effusions. Negative bronchoalveolar lavage (BAL) and transbronchial biopsy (TBBx) prompted a second diagnostic procedure with a transthoracic core needle biopsy; the final diagnosis was granulomatous PCP. This case showcases a very rare presentation of PCP, with both large cavitating lung masses on imaging and granulomatous reaction on pathology, as well as the challenge of a potentially missed diagnosis with negative BAL and TBBx requiring transthoracic core needle biopsy for a final diagnosis.
Enhanced Working Memory Binding by Direct Electrical Stimulation of the Parietal Cortex
Authors: Agustina Birba, Eugenia Hesse, Lucas Sedeño, Ezequiel P Mikulan, María Del C García, Juan Ávalos, Federico Adolfi, Agustina Legaz, Tristán A Bekinschtein, Máximo Zimerman, Mario Parra, Adolfo M García, Agustín Ibáñez
Journal: Front Aging Neurosci (2017)
Keywords: alzhimer’s disease, direct electrical stimulation, short term memory, single case study, working memory binding

Recent works evince the critical role of visual short-term memory (STM) binding deficits as a clinical and preclinical marker of Alzheimer's disease (AD). These studies suggest a potential role of posterior brain regions in both the neurocognitive deficits of Alzheimer's patients and STM binding in general. Thereupon, we surmised that stimulation of the posterior parietal cortex (PPC) might be a successful approach to tackle working memory deficits in this condition, especially at early stages. To date, no causal evidence exists of the role of the parietal cortex in STM binding. A unique approach to assess this issue is afforded by single-subject direct intracranial electrical stimulation of specific brain regions during a relevant cognitive task. Electrical stimulation has been used both for clinical purposes and to causally probe brain mechanisms. Previous evidence of electrical currents spreading through white matter along well defined functional circuits indicates that visual working memory mechanisms are subserved by a specific widely distributed network. Here, we stimulated the parietal cortex of a subject with intracranial electrodes as he performed the visual STM task. We compared the ensuing results to those from a non-stimulated condition and to the performance of a matched control group. In brief, direct stimulation of the parietal cortex induced a selective improvement in STM. These results, together with previous studies, provide very preliminary but promising ground to examine behavioral changes upon parietal stimulation in AD. We discuss our results regarding: (a) the usefulness of the task to target prodromal stages of AD; (b) the role of a posterior network in STM binding and in AD; and
Two Unusual Presentations of Presacral Schwannoma; A Case Series
Authors: Dana Kalagi, Mohammed Bakir, Mohammad Alfarra, Alaa Aborayya, Ihab Anwar
Journal: Int J Surg Case Rep (2019)
Keywords: case series, laparoscopic, presacral schwannoma, retroperitoneal

Introduction:
Schwannomas are benign tumors that arise from the Schwann cells of nerve fibers. They commonly occur in the head and neck, mediastinum and extremities. However, they are extremely rare to be found in the pelvis.
Case presentation:
We report two cases of pelvic presacral schwannomas found in our hospital. The first case is a 50 years old lady who was seen in the outpatient clinic complaining of pelvic heaviness. Investigations were done including Computed Tomography (CT) and Magnetic Resonance Imaging (MRI) which showed a solid mass in the presacral area. Biopsy was taken, and results came back as schwannoma. The patient underwent exploratory laparotomy and total tumor resection. The second case is a 19 years old gentleman who was referred from a local hospital to our hospital for further evaluation of an asymptomatic left retroperitoneal pelvic mass. The mass was found incidentally after a Road Traffic Accident. The patient underwent exploratory laparotomy and total tumor resection. In the two cases, specimen histopathology report came back positive for schwannoma and patients were doing fine in the post-operative period with no signs of recurrence till this date.
Conclusion:
Due to the few cases in the literature, the diagnosis of presacral schwannoma is challenging. Some patients presented with vague symptoms like pelvic heaviness as seen with the patient in the first case, and some presented completely asymptomatic as seen with the patient in the second case. In symptomatic and asymptomatic cases, surgical excision is the mainstay of treatment of these tumors.