OpenMed/multicare-articles huggingface dataset:
Hyalinizing spindle cell tumor with giant rosettes
Authors: Anikode S Ramaswamy, K Ramakantha Chatura
Journal: Ann Saudi Med (2011)
MeSH terms: Sarcoma / pathology, Case Reports, Adult, Diagnosis, Differential, Female, Humans, Male, S100 Proteins / analysis, S100 Proteins

Low-grade fibromyxoid sarcomas are uncommon deep-seated soft tissue neoplasms that exhibit a deceptively benign appearance microscopically. The finding of a linear or whorled array of spindled cells with few or no mitoses in a characteristic myxoid stroma can pose diagnostic dilemmas. Recurrences are common, and late metastases have been recorded. A closely related tumor, the so-called hyalinizing spindle cell tumor with giant collagen rosettes (HSCTGR), has also been described, with both the neoplasms having a similar cytogenetic abnormality and clinical behavior. Because of the similarities, both lesions are considered to be a single entity within the spectrum of low-grade sarcomas. Two cases of HSCTGR occurring in the lower limb are described in this report.
Management of severe rhinophyma with electrocautery dermabrasion - A case report
Authors: Brinda Chellappan, Jose Castro
Journal: Int J Surg Case Rep (2020)
Keywords: case report, dermabrasion, electrocautery, rhinophyma, rosacea
MeSH terms: Case Reports

Introduction:
Rhinophyma is benign hypertrophic thickening of the skin and edema of the nasal pyramid. The affected tissue enlarges slowly before reaching its permanent size. The lobulated skin surface with hundreds of pores can become cosmetically embarrassing and cause significant psychosocial stress, anxiety, and depression for patients. In addition, extensive alar thickening can obstruct the external nasal valves making treatment necessary to alleviate respiratory issues. No consensus has been reached regarding management of rhinophyma and many surgeons follow the "to each his own technique" mindset. Our objective was to present a case report to support the use of electrocautery and dermabrasion as the mainstay of treatment.
Presentation of case:
Here we describe the case of a 62-year-old Caucasian male with a long-standing history of acne rosacea who developed severe rhinophyma overtime which lead to nasal obstruction and major cosmetic deformity. Electrocautery and dermabrasion in the operating room were utilized to obtain an outstanding cosmetic result and respiratory function improvement. Loop and Colorado cautery tips were used with cutting current to remove the hypertrophic skin and create a smooth contour. The patient tolerated the procedure well without any complications. The patient's skin was scab-free with normal pigmentation by four weeks post-op. He was satisfied with the cosmetic outcome and reported substantial improvement in his breathing.
Discussion:
There have been several case reports published which describe using different surgical methods to treat rhinophyma including lasers, electrocautery dermabrasion, surgical blade, cryosurgery, and radio excision. The main limitations of laser therapy are imprecise tissue removal, risk of scarring, dyspigmentation, and bleeding. Other therapies such as surgical excision and skin grafts may require multiple procedures before obtaining a satisfactory cosmetic outcome.
Conclusion:
This case report supports electrocautery dermabrasion as the mainstay of treatment as it is a management technique which allows for smooth contouring, efficient hemostasis, more control in the operating room, and does not require multiple procedures.
Unrecognized Ebola virus infection in Guinea: complexity of surveillance in a health crisis situation: case report
Authors: Ibrahima Camara, Mamadou Saliou Sow, Abdoulaye Touré, Bakary Oularé, Elhadj Ibrahima Bah, Salifou Talassone Bangoura, Alioune Camara, Alpha Kabinet Keita
Journal: Pan Afr Med J (2020)
Keywords: ebola, guinea, case report
MeSH terms: Ebolavirus / isolation & purification, Hemorrhagic Fever, Ebola / diagnosis, Population Surveillance, Case Reports, Adolescent, Adult, Aged, Female, Guinea / epidemiology, Hemorrhagic Fever, Ebola / epidemiology, Humans, Male, Middle Aged

The ebola epidemic that raged in West Africa between 2013 and 2016 was the largest since the discovery of the virus in 1976. During this epidemic, more than 11,000 cases were notified with a lethality of over 67%. Several means of transmission have been described. The great difficulty noted during the epidemic was the estimation of the number of asymptomatic and pauci symptomatic cases, however there is evidence that this population has been in contact with the virus for some time. Thus, they could be a source for the spread of the epidemic. In this paper, we report in Guinea-Conakry three stories of probable pauci-symptomatic form of ebola disease that would have been the cause of massive infection in a population sorely tried by the epidemic between 2014 and 2015 in Guinea.
A case report of mania with abnormal cerebral blood flow and cognitive impairment 24 years after head trauma
Authors: Hiroki Yoshino, Chieko Aoki, Soichiro Kitamura, Kazuhiko Yamamuro, Shohei Tanaka, Toshifumi Kishimoto
Journal: Ann Gen Psychiatry (2020)
Keywords: brain injuries, traumatic, manic state, orbitofrontal cortex, posterior cingulate cortex
MeSH terms: Case Reports

Background:
Mania usually occurs secondary to organic etiologies such as head trauma within a short time of the primary condition's onset; however, there have been a few cases reported in the literature of long time spans before the manifestation of mania. The orbitofrontal cortex has been reported to be associated with manic states in bipolar disorder and with mania-inducing lesions. Head trauma commonly disrupts various cognitive functions, including attention and information processing. Traumatic brain injury patients have been shown to have greater posterior cingulate cortex and precuneus functional connectivity to the rest of the default mode network. We describe a case of secondary mania after head trauma 24 years ago with low blood flow in the orbitofrontal cortex, high blood flow in the posterior cingulate cortex, and impaired cognitive functioning, including impaired attention and lowered processing speed.
Case presentation:
We describe a 30-year-old Japanese man with secondary mania and a medical history of head trauma 24 years ago. After head trauma at 6 years of age, the patient first showed apathy as a sign of frontal lobe impairment. After recovering, he experienced no psychiatric problems during adolescence, although he did show disinhibited behavior. At the onset of mania, low blood flow in the OFC and high blood flow in the PCC were observed as well as impaired cognitive function, including inattention and lowered processing speed. Abnormal cerebral blood flow was less prominent and cognitive dysfunction was partially recovered following recovery from mania, but his processing speed remained low.
Conclusions:
Although functional recovery from head trauma in childhood is better than that in adulthood, the brain may remain vulnerable for a long time. The risk of psychotic symptoms such as mania should be considered, even if sufficient superficial brain functional recovery is shown.
Shewanella algae, an Emerging Human Pathogen: A Series of Four Cases From a Portuguese Hospital
Authors: Salomão Fernandes, Rita Sérvio, Ana Rita Silva, Raquel Tavares, Paulo Rodrigues
Journal: Cureus (2023)
Keywords: antibiotics, hiv, migrants, shewanella algae, shewanella infection
MeSH terms: Case Reports

Shewanella algae is a rod-shaped, Gram-negative bacterium that is considered an emerging human pathogen. Traditionally associated with warmer climates, S. algae has now been isolated from patients worldwide, and reports of infection are increasing. In a regional hospital on the outskirts of Lisbon, Portugal, four cases have been detected in the past 10 years. Two of the patients were migrants from African countries with daily contact with water; the other two patients were Portuguese, and no epidemiological risk factors were found among them. These are the first cases reported in Portugal. Risk factors associated with S. algae infection in patients discussed in this paper include the following: human immunodeficiency virus (HIV) infection, chronic venous insufficiency, lower limb ulcers, chronic kidney disease, diabetes, arterial hypertension, dilated cardiomyopathy, atrial fibrillation, chronic hepatic disease, and chronic pancreatitis. One patient died in the intensive care unit with septic shock and disseminated intravascular coagulation from a fulminant infection secondary to S. algae bacteraemia. The four clinical cases presented in this case series highlight the clinical features of this infection so that other physicians can successfully identify and treat S. algae infections.
Case Report: Priapism as The Clinical Presenting Feature of Chronic Myeloid Leukemia: Case Report and 20-Year Literature Review
Authors: Siprianus Ugroseno Yudho Bintoro, Pradana Zaky Romadhon, Satriyo Dwi Suryantoro, Rusdi Zakki Aminy, Choirina Windradi, Krisnina Nurul Widiyastuti
Journal: F1000Res (2021)
Keywords: cancer, chronic myeloid leukemia, cytoreduction, penile-aspiration, priapism
MeSH terms: Leukemia, Myelogenous, Chronic, BCR-ABL Positive / complications, Leukemia, Myelogenous, Chronic, BCR-ABL Positive / therapy, Priapism / complications, Priapism / therapy, Case Reports, Adolescent, Humans, Male, Penis

Priapism in chronic myeloid leukemia (CML) appears to be an infrequent manifestation as well as a crucial emergency. Here, we report an 18-year-old male presenting with a persistent erection of the penis for 20 days. We evaluated and compared the reported cases within 20 years discussing the management of priapism in CML. Cytoreductive therapy followed by leukapheresis, the administration of tyrosine kinase inhibitor, and intra-cavernosal blood aspiration may resolve the symptoms of priapism. Early intervention for cytoreduction and aspiration are the pivotal keys to successfully impeding the complications.
Vasoreactive Pulmonary Arterial Hypertension Manifesting With Misleading Epileptic Seizure: Diagnostic and Treatment Pitfalls
Authors: Nesrine Farhat, Bjorn Cools, Marc Gewillig, Marie-Christine Seghaye, Yacine Aggoun, Maurice Beghetti
Journal: Front Pediatr (2019)
Keywords: calcium channel blockers, pediatric, pulmonary arterial hypertension, syncope, vasoreactivity testing
MeSH terms: Case Reports

A 5-year-old girl presented with acute nocturnal episodes of loss of consciousness following abdominal pain and crying. Epilepsy was primarily diagnosed but the course of the disease was suggestive of pulmonary hypertension. An adapted invasive assessment of pulmonary pressure and pharmacological challenge allowed for diagnosing vasoreactive pulmonary arterial hypertension. Initial treatment with sildenafil was not effective. Thus, calcium channel blockers were introduced when positive vasoreactivity was confirmed and permitted to stop the occurrence of the syncope and dramatically improved clinical status. At 2 years follow-up she is well without any complaint and in functional class I. Echocardiography shows a slightly enlarged but not hypertrophied right ventricle with a nearly normalized estimated right ventricular pressure. The last catheterization shows subnormal values of pulmonary arterial pressure (mean pulmonary artery pressure: 24 mmHg) and pulmonary vascular resistance (5, 4 Wood units*m2), normalizing with inhaled Nitric Oxide (mean pulmonary artery pressure of 14 mmHg and pulmonary vascular resistance of 1.5 Wood units*m2). Vasoreactive pulmonary arterial hypertension is a rare entity in children but it should not be misdiagnosed with seizures due to the presence of syncopal episodes. According to current knowledge, this form seems to have a better prognosis than non-reactive pulmonary arterial hypertension and the treatment of choice remains as calcium channel blockers. The management of this case was characterized by successive mishaps and potentially harmful mistakes and underscores the potential risk with pediatric PH evaluation in non-expert centers.
Case report: Fatal outcome of pyridoxine-dependent epilepsy presenting as respiratory distress followed by a circulatory collapse
Authors: Giulia Aquilano, Agnes Linnér, Sofia Ygberg, Tommy Stödberg, Ewa Henckel
Journal: Front Pediatr (2022)
Keywords: pde, lactic acidosis, neonatal encephalopathy, neonatal respiratory distress, pyridoxine-dependent epilepsy
MeSH terms: Case Reports

Pyridoxine-dependent epilepsy is a rare autosomal recessive disease usually associated with neonatal seizures that do not respond to common antiseizure medications but are controlled by pyridoxine administration. Because the symptoms can mimic common neonatal disorders, the diagnosis can be initially missed or delayed. We report a fatal case of a boy who was initially diagnosed with respiratory distress, birth asphyxia, and persistent pulmonary hypertension and whose condition rapidly deteriorated during the first day of life.
A Rare Presentation of Invasive Tuberculosis of the Central Nervous System in an Immunocompetent Patient in a Nonendemic Country
Authors: Rita Martins, Carlos Casimiro, Ana Valverde, Jose Campillo
Journal: Case Rep Neurol Med (2018)
MeSH terms: Case Reports

We herein report a rare case of a 25-year-old immunocompetent male patient with disseminated tuberculosis of central nervous system (CNS), first presenting as multiple cerebral lesions with no meningeal involvement. Subsequent diagnostic workup disclosed extensive peritoneal involvement. A broad differential diagnosis was considered, including neoplastic and infectious diseases. The diagnosis was confirmed with positive PCR result for Mycobacterium tuberculosis in the biopsied mesenteric tissue. The patient was started on tuberculostatic regimen with favorable outcome. No acquired or hereditary immunodeficiency was documented. Disseminated tuberculosis in immunocompetent individuals is extremely rare. Genetic susceptibility factors have been reported in individuals with extensive forms of the disease and a high index of suspicion is required, as observed in our case.
Perioperative Automated Noninvasive Blood Pressure- (NIBP-) Related Peripheral Nerve Injuries: An Anesthetist's Dilemma-A Case Report and Review of the Literature
Authors: Waleed Elmatite, Chanchal Mangla, Surjya Upadhyay, Joel Yarmush
Journal: Case Rep Anesthesiol (2020)
MeSH terms: Case Reports

Peripheral nerve injury following regional or general anesthesia is a relatively uncommon entity but, potentially, a serious complication of anesthesia. Most nerve injuries are related to either regional anesthesia or position-related complications, and they are rarely seen in association with the use of automated blood pressure monitoring. We describe a patient who developed neurological dysfunction of all the three major nerves, median, ulnar, and radial, after general anesthesia. The distribution of sensory motor deficit along with the nerve conduction study demonstrated the location of the anatomical nerve lesions coinciding with the automatic noninvasive blood pressure (NIBP) cuff. No other cause of nerve injury was identified except for the use of the NIBP cuff. In the absence of another identifiable cause, we strongly suspected the NIBP cuff compression as a possible cause for the nerve injuries. In this article, we will discuss the possible risk factors, mechanisms, diagnosis, and prevention of perioperative nerve injury.
Complete pathological response and negative postoperative ctDNA were not predictive of discontinuation of adjuvant crizotinib therapy in a patient with locally advanced MET ex14 skipping mutation-positive non-small cell lung cancer: a case report
Authors: Jiantao Wang, Wenqing Yao, Weiya Wang, Mingyu Fan, Kaili Huang, Zhenkun Liu, Daxing Zhu
Journal: Front Oncol (2023)
Keywords: met exon 14 skipping mutation, nsclc, case report, crizotinib rechallenge, neoadjuvant targeted therapy
MeSH terms: Case Reports

Neoadjuvant targeted therapy is an alternative treatment for locally advanced non-small cell lung cancer (NSCLC) patients with driver gene mutation. MET ex14 mutation is considered a driver gene, and crizotinib is the first oral tyrosine kinase inhibitor (TKI) for metastatic MET ex14 mutation-positive NSCLC patients. Here, we reported a case of a locally advanced NSCLC patient harboring MET ex14 mutation who achieved pathological complete response following neoadjuvant crizotinib therapy but developed rapid metastasis due to discontinuation of short-term postoperative adjuvant crizotinib therapy. Although no driver gene mutation was found via next-generation sequencing (NGS) with blood samples before discontinuation of adjuvant crizotinib, the patient was given crizotinib rechallenge. Fortunately, the patient achieved durable complete response. This suggested that neither pathological complete response nor negative circulating tumor DNA (ctDNA) could be an effective predictor for discontinuation of adjuvant targeted therapy. This case report demonstrated the potential of crizotinib as neoadjuvant therapy in MET ex14 mutation-positive NSCLC patients as well as the importance of long-term postoperative therapy even with negative ctDNA in blood.
Varicella-Zoster Meningitis in an Immunocompetent Male without Fever or Rash
Authors: Raju Raghunathan, Qasim Khalil, Mohamad Mooty
Journal: Case Rep Infect Dis (2021)
MeSH terms: Case Reports

Varicella-Zoster virus (VZV) is a human herpesvirus that primarily causes chickenpox and can reactivate later in life. Chickenpox occurs mostly in children and is characterized by a typical generalized vesicular rash. Following the primary infection, VZV can remain latent and can reactivate decades later to produce Zoster, being more common in the elderly as well as immunosuppressed individuals. The diagnosis of both the primary and reactivation is mostly clinical from the typical rash. However, when presentations are atypical, it leads to diagnostic challenges. We report an unusual case of VZ reactivation in an immunocompetent young adult presenting without fever, zoster rash, or neuralgia. The diagnosis was established by a positive polymerase chain reaction (PCR) performed on cerebrospinal fluid samples. The patient was treated with acyclovir and responded very well. The diagnosis of VZ meningitis is challenging in the absence of typical features of Zoster rash and requires a high index of suspicion.
Pulmonary Type B Niemann-Pick Disease Successfully Treated with Lung Transplantation
Authors: R S O'Neill, N Belousova, M A Malouf
Journal: Case Rep Transplant (2019)
MeSH terms: Case Reports

Background:
Niemann-Pick Disease (NPD) type B is a rare autosomal recessive disease characterised by hepatosplenomegaly and pulmonary disease, highlighted by preserved volumes and diminished diffusion capacity of the lung for carbon monoxide (DLCO) on pulmonary function tests (PFTs). There is no current accepted treatment for the disease. We present a case of a successful bilateral lung transplant in a patient with a DLCO of 14%, and significant pulmonary changes attributable to NPD type B on computed tomography (CT) chest, and both microscopic and macroscopic assessment of the lung explant. To the author's knowledge this is only the third case of lung transplantation in a patient with NPD type B and is one of two current living patients post lung transplantation for NPD type B.
Case report:
A 64-year-old male patient underwent bilateral lung transplantation for NPD type B. Preoperative PFTs demonstrated preserved volumes with significantly decreased DLCO, with imaging showing a diffuse reticular interstitial pattern, typical of chronic fibrotic lung disease. The patient suffered from primary graft dysfunction type 3 in the postoperative period as well as rejection managed with methylprednisolone and intravenous immunoglobulin. The patient improved steadily and was discharged 80 days post-transplantation.
Conclusions:
This case is only the third reported case of lung transplantation in a patient with NPD type B and the second case of a patient with NPD type B currently living post-transplantation, being at postoperative day (POD) 267 at the time of manuscript drafting. It demonstrates that lung transplantation, although hazardous, is a viable strategy for treatment in patients with NPD type B who have significant pulmonary involvement.
A rare brainstem anaplastic astrocytoma
Authors: Rongjiao You, Xiangfa Liu, Songfa Chen, Lixi Tan, Aiqun Liu, Mingfan Hong, Zhongxing Peng
Journal: Transl Neurosci (2022)
Keywords: anaplastic astrocytoma, brainstem, misdiagnosis
MeSH terms: Case Reports

Background:
Anaplastic astrocytoma (AA) is rarely observed in the brainstem and the clinical symptoms and imaging manifestations vary, which present a great challenge to accurate clinical diagnosis.
Case description:
A 56-year-old woman, with a month-long history of nausea and vomiting, was first diagnosed with acute cerebral infarction and demyelinating disease. The patient showed negative results on enhanced magnetic resonance and 18F-fluorodeoxyglucose positron emission tomography-computed tomography, and the clinical symptoms were not typical, leading to early misdiagnosis.
Conclusion:
Finally, the patient was diagnosed with AA by pathological biopsy.
Run-on mutation in the PAX6 gene and chorioretinal degeneration in autosomal dominant aniridia
Authors: Shagun Aggarwal, Worapoj Jinda, Chanin Limwongse, La-ongsri Atchaneeyasakul, Shubha R Phadke
Journal: Mol Vis (2011)
MeSH terms: Aniridia / genetics, Choroid Diseases / genetics, Eye Proteins / genetics, Genes, Dominant, Homeodomain Proteins / genetics, Mutation, Paired Box Transcription Factors / genetics, Repressor Proteins / genetics, Retinal Degeneration / genetics, Case Reports, Research Support, Non-U.S. Gov't, Adolescent, Heterozygote, Humans, Introns, Male, Middle Aged, PAX6 Transcription Factor, Pedigree, Polymorphism, Single-Stranded Conformational, Sequence Analysis, DNA, Young Adult, Eye Proteins, Homeodomain Proteins, PAX6 Transcription Factor, PAX6 protein, human, Paired Box Transcription Factors, Repressor Proteins

Purpose:
To identify the causative paired box 6 (PAX6) mutation in a family with autosomal dominant aniridia.
Methods:
A family with autosomal dominant aniridia with three affected individuals in two generations was investigated for the causative PAX6 mutation by single strand conformation polymorphism (SSCP) followed by sequencing of genomic DNA from peripheral blood.
Results:
A novel PAX6 mutation in the donor splice site of intron 12 was identified in all three affected individuals from the family. The automated splice site analysis web interface indicated a disturbance of splicing and it was predicted that this mutation could lead to an elimination of the normal stop codon and an abnormal 3' elongation of the mRNA.
Conclusions:
We report a novel PAX6 mutation in autosomal dominant aniridia that presumably affects splicing. The presence of chorioretinal degeneration in one of the affected individual raises the possibility that run-on mutations are associated with chorioretinal involvement in aniridia.