OpenMed/multicare-articles huggingface dataset:
Genomic insights into Mycobacterium simiae human colonization
Authors: José L Steffani-Vallejo, Marion E Brunck, Erika Y Acosta-Cruz, Rafael Montiel, Francisco Barona-Gómez
Journal: Stand Genomic Sci (2018)
Keywords: mycobacterium simiae, nontuberculous mycobacteria, opportunistic pathogen
MeSH terms: Case Reports

Mycobacterium simiae (Karassova V, Weissfeiler J, Kraszanay E, Acta Microbiol Acad Sci Hung 12:275-82, 1965) is a slow-growing nontuberculous Mycobacterium species found in environmental niches, and recently evidenced as an opportunistic Human pathogen. We report here the genome of a clinical isolate of M. simiae (MsiGto) obtained from a patient in Guanajuato, Mexico. With a size of 6,684,413 bp, the genomic sequence of strain MsiGto is the largest of the three M. simiae genomes reported to date. Gene prediction revealed 6409 CDSs in total, including 6354 protein-coding genes and 52 RNA genes. Comparative genomic analysis identified shared features between strain MsiGto and the other two reported M. simiae genomes, as well as unique genes. Our data reveals that M. simiae MsiGto harbors virulence-related genes, such as arcD, ESAT-6, and those belonging to the antigen 85 complex and mce clusters, which may explain its successful transition to the human host. We expect the genome information of strain MsiGto will provide a better understanding of infective mechanisms and virulence of this emergent pathogen.
Haemophilus influenzae Pyomyositis in a Patient with Diabetic Ketoacidosis: A Unique Case and Review of Literature
Authors: Kamolyut Lapumnuaypol, Sanna Fatima, Pradhum Ram, Gemlyn George, Antoinette Climaco
Journal: Case Rep Infect Dis (2017)
MeSH terms: Case Reports

Haemophilus influenzae is a Gram-negative bacillus commonly known to cause upper respiratory tract infections. Skin and soft tissue infections are very uncommon. Of these, the majority were associated with necrotizing fasciitis requiring emergent debridement. We report a case of pyomyositis caused by Haemophilus influenzae in an adult with diabetes.
Clinical Imaging Findings of Vestibular Aqueduct Trauma in a Patient With Posttraumatic Meniere's Syndrome
Authors: David Bächinger, Madeline M Goosmann, Bernhard Schuknecht, Joseph B Nadol Jr, Joe C Adams, Alexander Huber, Andreas H Eckhard
Journal: Front Neurol (2019)
Keywords: endolymphatic hydrops, endolymphatic sac, gadolinium-enhanced magnetic resonance imaging, otic capsule, temporal bone fracture
MeSH terms: Case Reports

Posttraumatic Meniere's syndrome is a rare clinical entity. The pathomechanism by which temporal bone trauma leads to fluctuating audiovestibular symptoms, in some cases with a delay of onset many years after trauma, remains elusive. Here, a clinical case and the respective temporal bone imaging data were reviewed to investigate the underlying inner ear pathology. A 44-year-old patient presented with left-sided Meniere's syndrome 34 years after he suffered an ipsilateral temporal bone fracture caused by a car accident. Clinical imaging showed left cochleovestibular hydrops (gadolinium-enhanced MRI) and bony obliteration of the left VA (CT imaging), resulting in discontinuity of the ES. Our findings suggest that a temporal bone fracture with a "retrolabyrinthine" course, traversing the VA, caused intraaqueductal callus bone formation and progressive blockage of the VA. As a result, the extraosseous (distal) endolymphatic sac (eES) became separated from the cochleovestibular labyrinth, an event that presumably underlies endolymphatic hydrops formation and that precipitates the onset of clinical Meniere's symptoms in this case.
Keratoacanthoma of the Nasal Septum Secondary to Ranibizumab Use
Authors: Jason E Cohn, Hilary M Caruso Sales, Giang Huong Nguyen, Harvey Spector, Kenneth Briskin
Journal: Case Rep Pathol (2017)
MeSH terms: Case Reports

Keratoacanthoma (KA) is a benign epithelial tumor that typically presents as a firm, cone-shaped, flesh-colored nodule with a central horn-filled crater. KA is considered to be a low-grade variant of squamous cell carcinoma (SCC). We report a rare case of a 72-year-old male who presented with a KA involving the nasal septum, possibly related to ranibizumab use. A flesh-colored lesion on the right anterior nasal septum lesion was visualized on examination. Histologic examination revealed a well-circumscribed, dome-shaped central crater filled with keratin, well-differentiated squamous epithelium with ground-glass cytoplasm with pushing margins, and intraepithelial microabscesses establishing the diagnosis of KA. KA of the nasal septum has only been reported once in the literature. This case is unusual because it normally presents on sun-exposed areas. Additionally, this patient was taking ranibizumab, a vascular endothelial growth factor (VEGF) inhibitor for macular degeneration. Despite ranibizumab not being directly linked to precancerous and cancerous skin lesions, agents in this medication class have been. Although it is difficult to prove associations in this isolated case, the role of ranibizumab causing cutaneous lesions should be further investigated.
A Delayed Diagnosis of Myxedema Coma
Authors: Carla Williams
Journal: Cureus (2023)
Keywords: decompensated, hypothyroidism, myxedema coma, severe, uncontrolled
MeSH terms: Case Reports

A 58-year-old man without any personal or familial cardiac history presented to the emergency department with complaints of worsening left-sided chest pain that began at rest, described as a burning sensation and escalating to a 9/10 severity. He denied any personal or familial cardiac history but admitted that he had not been medically evaluated in approximately five years. His physical examination was notable for obesity, xerosis, macroglossia, and bilateral lower extremity edema. His initial labs demonstrated critical troponin levels that peaked at 11.5 ng/mL and he was diagnosed with a myocardial infarction and underwent cardiac catheterization with percutaneous stenting of the left anterior descending artery. His post-operative period was complicated by prolonged lethargy that was determined to be myxedema coma two days later when his thyroid stimulating hormone level was found to be 78 mIU/mL.
Where COVID-19 testing is challenging: a case series highlighting the role of thoracic imaging in resolving management dilemma posed by unusual presentation
Authors: Ademola Joseph Adekanmi, Lateef Ayodele Baiyewu, Babatunde Ebenezer Osobu, Omolola Mojisola Atalabi
Journal: Pan Afr Med J (2020)
Keywords: covid-19, diagnostic challenges, surge, thoracic imaging, viral pcr testing
MeSH terms: COVID-19 / diagnostic imaging, COVID-19 Testing / methods, Radiography, Thoracic, Tomography, X-Ray Computed, Case Reports, Aged, Aged, 80 and over, Humans, Male, Middle Aged, Nigeria, Retrospective Studies

The COVID-19 pandemic remains an evolving disease posing a challenge of incomplete understanding escalated by random atypical clinical presentations. Numerous challenges still exist with accessibility and availability of standard COVID-19 viral testing using real-time Polymerase Chain Reaction (RT-PCR), in low- and middle-income countries, especially in several hospital settings. The clinical information of three select patients at a major health facility in Southwestern Nigeria with unusual COVID-19 clinical presentation and clinical management dilemma related to challenges with COVID-19 viral laboratory testing, were retrospectively reviewed. The medical history in all three cases closely mimicked that of other medical conditions because of assumptions created by red herrings like an acute exacerbation of an underlying non-communicable disease (diaphragmatic eventration) in case 1, re-activation of a previously treated lung condition (tuberculosis) in case 2 and a sequalae of a previously diagnosed but poorly-managed chronic non-communicable disease (decompensated hypertensive heart disease). Also, viral testing was challenging in all cases due to reasons ranging from late turn-around time to inconsistent results. However, thoracic imaging was employed in all cases to heighten suspicion of COVID-19 infection, resolve management dilemma and limit intra-hospital spread. Thoracic imaging can play a major role within hospital settings in low-and middle-income countries in resolving diagnostic challenges of atypical COVID-19 clinical presentations, raising suspicion for early institution of intra-hospital disease containment measures, limiting exposure among hospital staff and guiding clinical case management of COVID-19; especially where challenges with confirmatory viral testing remain persistent.
Bromelain-based enzymatic debridement as a treatment of choice in high-risk patient with deep facial burns, a case report
Authors: Nikola Ferancikova, Peter Bukovcan, Nina Sarkozyova, Jana Dragunova, Valeria Cucorova, Jan Koller
Journal: Int J Surg Case Rep (2020)
Keywords: case report, deep burns, enzymatic debridement, facial burns, inhalation injury
MeSH terms: Case Reports

Introduction:
Deep facial burns are often combined with inhalation injury that could lead to patient destabilization. Accurate timing of surgical debridement of deep burns in a critical patient is the real medical art. Especially in patients with deep burned face and hands, in whom early debridement promises better functional and aesthetic results.
Case presentation:
A fifty-three-year-old woman sustained burns of 16% TBSA including face area. The treatment of the burn injury was complicated by severe inhalation trauma, which led to patient destabilization shortly after admission. Standard surgical debridement was risky at the time. We used a new enzymatic agent for early burn eschar necrolysis instead. All the debrided areas were temporarily covered with porcine xenografts. The facial burns healed spontaneously without the need for a skin transplant. Definitive surgery treatment of full-thickness burns was postponed until the patient´s stabilization.
Discussion:
The new enzymatic debridement is minimally invasive and can be applied bedside without the need for general anesthesia. All advantages of the new enzymatic debridement had led to extend its use at the face area, although it was not tested in this area during pre-registration studies. Especially in facial area high selectivity and significant reduction of skin grafting expect a better aesthetic and functional outcome.
Conclusion:
Bromelain-based enzymatic debridement proved to be safe and effective on the face in a very high-risk patient with unstable circulation and severe inhalation injury as an alternative to tangential excision.
Lymphomatoid granulomatosis with splenomegaly and pancytopenia
Authors: Abolhasan Halvani, Mohammad Bagher Owlia, Ramin Sami
Journal: Zhongguo Fei Ai Za Zhi (2010)
MeSH terms: Lymphomatoid Granulomatosis / diagnosis, Pancytopenia / diagnosis, Splenomegaly / diagnosis, Case Reports, Adolescent, Humans, Lymphomatoid Granulomatosis / diagnostic imaging, Lymphomatoid Granulomatosis / drug therapy, Male, Pancytopenia / diagnostic imaging, Pancytopenia / drug therapy, Radiography, Splenomegaly / diagnostic imaging, Splenomegaly / drug therapy

Lymphomatoid granulomatosis (LG) is an angiocentric lymphoproliferative disease. It usually involves lung, skin, and central nervous system, but splenomegaly and pancytopenia are the rare manifestations of the disease. We report a 15-year-old boy presented with fever, dry cough and dyspnea from two months ago, after admission patient had nodular lesions on the left leg and hepatosplenomegaly. Then he manifested neurologic signs such as seizure, aphasia and right-sided hemiplegia. Chest X-ray and CT scan revealed bilateral pulmonary nodules predominantly in lower lobes and peripheral lung fields. Laboratory exams showed pancytopenia. Skin biopsy was done, and histopathological examination and immunohistochemistry evaluation confirmed lymphomatoid granulomatosis. He was treated with steroid and cyclophosphamide but succumbed by neurologic involvement.
Serum total tryptase level confirms itself as a more reliable marker of mast cells burden in mast cell leukaemia (aleukaemic variant)
Authors: P Savini, M Rondoni, G Poletti, A Lanzi, O Quercia, S Soverini, C De Benedittis, G Musardo, G Martinelli, G F Stefanini
Journal: Case Rep Hematol (2015)

Mast cell leukemia (MCL) is a very rare form of systemic mastocytosis (SM) with a short median survival of 6 months. We describe a case of a 65-year-old woman with aleukaemic variant of MCL with a very high serum total tryptase level of 2255 μg/L at diagnosis, which occurred following an episode of hypotensive shock. She fulfilled the diagnostic criteria of SM, with a bone marrow smear infiltration of 50-60% of atypical mast cells (MCs). She tested negative for the KIT D816V mutation, without any sign of organ damage (no B- or C-findings) and only few mediator-related symptoms. She was treated with antihistamine alone and then with imatinib for the appearance of anemia. She maintained stable tryptase level and a very indolent clinical course for twenty-two months; then, she suddenly progressed to acute MCL with a serum tryptase level up to 12960 μg/L. The patient died due to haemorrhagic diathesis twenty-four months after diagnosis. This clinical case maybe represents an example of the chronic form of mast cell leukemia, described as unpredictable disease, in which the serum total tryptase level has confirmed itself as a reliable marker of mast cells burden regardless of the presence of other signs or symptoms.
Rare Case of a Young Male Presented with Abdominal Pain, Solid Colon Tumors, and Eosinophilia, Followed by Tremendous Thromboembolic Complications and Eventually Diagnosed with Idiopathic Hypereosinophilic Syndrome
Authors: Tomasz Zemleduch, Anna Czapla, Piotr Kimla, Bartosz Kudliński
Journal: Case Rep Med (2022)
MeSH terms: Case Reports

Hypereosinophilic syndrome (HES) is a rare condition characterized by profound peripheral eosinophilia and various organ dysfunction. Diagnostic criteria and classification of this challenging medical entity changed over time. Elevated absolute eosinophil count with extensive tissue infiltration and signs of organ damage of unknown origin is termed idiopathic HES. Hypereosinophilia is a highly hypercoagulable state; thus, a variety of thromboembolic complications may occur. Only a few reports of idiopathic HES patients with different forms of thrombosis are being published. We document a case of a young male presented with persistent abdominal pain with two eosinophilic colon tumors. The patient suffered from phlegmasia cerulea dolens and portal vein thrombosis, followed by pulmonary embolism and overt disseminated intravascular coagulation (DIC). Corticosteroids successfully reduced and controlled eosinophil level while skilled anticoagulation and supportive management overcome DIC-associated complications.
Case Report: The Role of Molecular Analysis of the MUTYH Gene in Asymptomatic Individuals
Authors: Katarína Fabišíková, Olívia Hamidová, Regína Lohajová Behulová, Katarína Závodná, Petra Priščáková, Vanda Repiská
Journal: Front Genet (2020)
Keywords: mutyh gene, mutyh glycosylase, base excision repair, case report, compound heterozygote, germline mutation, pathogenic variant
MeSH terms: Case Reports

MUTYH-associated polyposis (MAP) is a rare hereditary condition caused by the biallelic mutation in the MUTYH gene encoding MUTYH glycosylase. This enzyme is a key member of the base excision repair (BER) pathway responsible for the repair of DNA lesions formed by reactive oxygen species (ROS). We report two cases of MAP. In case 1, a 67-year-old woman who presented with a personal history of colorectal and endometrial cancer and a family history of cancer syndromes underwent multigene panel testing that revealed a germline homozygous (biallelic) pathogenic variant c.1187G > A (p.Gly396Asp) in the MUTYH gene. Subsequent sequencing analysis performed in the offspring of the proband identified all three asymptomatic offspring as carriers of this pathogenic variant. In case 2, a 40-year-old woman with a strong family history of colorectal cancer [the proband's sister was a carrier of the pathogenic variant c.536A > G (p.Tyr179Cys) of the MUTYH gene] and renal cancer underwent sequencing analysis of the MUTYH gene. The pathogenic heterozygous (monoallelic) variant c.536A > G (p.Tyr179Cys) of the MUTYH gene was identified in the proband. We found another pathogenic variant of the MUTYH gene-heterozygous (monoallelic) mutation c.1187G > A (p.Gly396Asp) in the genome of the proband's husband. Molecular analysis of their offspring revealed that they are compound heterozygotes for MUTYH pathogenic variants c.536A > G (p.Tyr179Cys)/c.1187G > A (p.Gly396Asp). This paper shows the importance of genetic testing of asymptomatic relatives of the proband to ensure an early surveillance and management of individuals positive for pathogenic variant (s) in the MUTYH gene.
Spectrum of pneumothorax/pneumomediastinum in patients with coronavirus disease 2019
Authors: Anirban B Adhikary, Udhyachander R, Nupur B Patel, Vadhan Prasanna S, Priyanka Boruah, Saurabh Chandrakar
Journal: Qatar Med J (2021)
Keywords: covid-19, peep, pneumomediastinum, pneumopericardium, pneumothorax
MeSH terms: Case Reports

Background:
Spontaneous pneumothorax/pneumomediastinum is an uncommon complication of coronavirus disease 2019 (COVID-19). Herein, we describe the clinical spectrum and outcomes of COVID-19-associated pneumothorax/pneumomediastinum in critical care settings.
Materials and methods:
We hereby present a case series of 12 patients who tested positive for COVID-19 and developed air leak injuries in critical care settings in a tertiary care center in Northern India. Infection with severe acute respiratory syndrome coronavirus-2 was confirmed by nasal/oropharyngeal swab testing using real-time reverse-transcription polymerase chain reaction test. The clinical spectrum and outcomes of these patients were assessed. Each case has been presented as a brief synopsis.
Results:
The onset of pneumothorax/pneumomediastinum varied from 11 to 28 days after the occurrence of initial symptoms and caused worsening of respiratory parameters in most patients. Of the 12 patients, eight were males who developed air leak injuries. One patient was a current smoker, and three patients had underlying lung disorders. Two patients with spontaneous breathing were managed conservatively. All intubated patients who developed air leak injuries died (100% mortality rate).
Conclusion:
Pneumothorax/pneumomediastinum is a rare and life-threatening complication in mechanically ventilated patients with COVID-19. Further research is needed to understand the pathophysiology behind the development of air leak injuries in patients with COVID-19.
Case Report: Godoy & Godoy method of cervical lymphatic therapy - indirect evaluation of the effect of the duration of stimulation on ocular edema
Authors: Jose Maria Pereira de Godoy, Henrique Jose Pereira de Godoy, Ana Carolina Pereira de Godoy, Maria de Fatima Guerreiro Godoy
Journal: F1000Res (2022)
Keywords: godoy & godoy method, ophthalmology, glaucoma, lymphatic therapy
MeSH terms: Glaucoma, Lymphatic Vessels, Case Reports, Edema, Female, Humans, Intraocular Pressure, Middle Aged

The aim of the present study is to report the indirect evaluation of cervical stimulation considering the effect of the duration of the stimulus on the control of intraocular pressure in a patient with bilateral glaucoma with important ocular edema. A 47-year-old woman reported the onset of pain and bilateral tearing in the eyes at 35 years of age and was diagnosed with glaucoma. The patient began clinical treatment, but intraocular pressure remained 35 to 40 mmHg even with the use of four eye medications in the form of drops. The patient reported that her vision was always blurred despite the use of the eyedrops. The patient was submitted to the Godoy & Godoy method of cervical lymphatic therapy to reduce the edema. The ophthalmologist measured her intraocular pressure every two and three days. We found that the pressure was maintained below 20 mmHg when lymphatic therapy was performed every two days, but intraocular pressure increased and the vision became blurred when therapy was performed every three days. The Godoy & Godoy method of cervical lymphatic therapy constitutes a novel lymphatic system stimulation strategy that maintains its effect on intraocular pressure for approximately 48 hours, as demonstrated through an indirect evaluation.
Hereditary Hypercalcemia Caused by a Homozygous Pathogenic Variant in the CYP24A1 Gene: A Case Report and Review of the Literature
Authors: Daniele Cappellani, Alessandro Brancatella, Martin Kaufmann, Angelo Minucci, Edda Vignali, Domenico Canale, Elisa De Paolis, Ettore Capoluongo, Filomena Cetani, Glenville Jones, Claudio Marcocci
Journal: Case Rep Endocrinol (2019)
MeSH terms: Case Reports

Introduction:
Loss of function mutations of CYP24A1 gene, which is involved in vitamin D catabolism, cause vitamin D-mediated PTH-independent hypercalcemia. The phenotype varies from life-threatening forms in the infancy to milder forms in the adulthood.
Case presentation:
We report a case of a 17-year-old woman with a history of nephrolithiasis, mild PTH-independent hypercalcemia (10,5mg/dL), and high serum 1,25(OH)2D concentrations (107pg/mL). Other causes of hypercalcemia associated with the above biochemical signature were excluded. Family history revealed nephrolithiasis in the sister. Blood testing in first-degree relatives showed serum PTH in the low-normal range and 1,25(OH)2D at the upper normal limit or slightly elevated. The CYP24A1 gene analysis revealed a known homozygous loss-of-function pathogenic variant (c.428_430delAAG, rs777676129, p.Glu143del). The panel of vitamin D metabolites evaluated by liquid chromatography showed the typical profile of CYP24A1 mutations, namely, low 24,25(OH)2D3, elevated 25(OH)D3:24,25(OH)2D3 ratio, and undetectable 1,24,25(OH)3D3. The parents and both the siblings harbored the same variant in heterozygosis. We decided for a watchful waiting approach and the patient remained clinically and biochemically stable over a 24-month followup.
Conclusion:

CYP24A1 gene mutations should be considered in cases of PTH-independent hypercalcemia, once that more common causes (hypercalcemia of malignancy, granulomatous diseases, and vitamin D intoxication) have been ruled out.
Normotensive, Oversized Pheochromocytoma in Twin-Pregnancy: Analysis of Therapeutic Challenges in a Rare Case
Authors: Bora Özveren, Halim Ulugöl, Levent Türkeri
Journal: Case Rep Urol (2019)
MeSH terms: Case Reports

An asymptomatic, normotensive 36-year-old woman in the second trimester of a twin-gestation was diagnosed with a 11 cm adrenal pheochromocytoma. Considering the hemodynamic stability of the patient, tumor size, and gestational age, the therapeutic decision of a multidisciplinary team ensued open surgical excision without any preoperative antihypertensive preparation. Following successful removal of pheochromocytoma, the patient had a normal subsequent course of pregnancy and cesarean section delivery of healthy twins at term. This unique case of a normotensive, incidental, large-sized pheochromocytoma in a twin-pregnancy illustrates that the decisions of management in such a rare occurrence should be based on individual features of the patient. Our experience supports that α-adrenergic blockade may not be essential in normotensive pheochromocytoma in pregnancy and open-surgery remains as a safe approach in the management of large adrenal tumors in twin-pregnant patients following a multidisciplinary consultation.