OpenMed/multicare-articles huggingface dataset:
Ophthalmic treatment and vision care of a patient with rare ring chromosome 15: a case report
Authors: Lidia Puchalska-Niedbał, Stanisław Zajączek, Elżbieta Petriczko, Urszula Kulik
Journal: Case Rep Pediatr (2014)

The Aim. Ring chromosome 15 is a very rare genetic abnormality with a wide spectrum of clinical findings. Up to date, about 50 cases have been documented, whereas no reports on ophthalmological treatment of such patients have been published. The aim of this study is not only to describe a new patient, but also, for the first time, to present the results of nonoperative management of divergent strabismus. Material and Methods. We present an amblyopic patient with 46,XX, r(15) karyotype: treated conservatively for exotropia of 60 prism diopters. The management consisted of refractive and prismatic correction, eye occlusion, and orthoptic exercises between the age of 15 months and 8 years. Results. The deviation angle of exotropia was decreased to 10 prism diopters, the visual acuity improved to 1.0 in both eyes (Snellen chart) and the fixation pattern was normal. The prisms enabled permanent symmetrical stimulation of the retina, which lead to a development of normal single binocular vision (Maddox test, filter test, and synoptophore tests). Conclusions. Parental karyotype was normal; the analysis of a three-generation pedigree has shown no genetic abnormalities or pregnancy losses so the child's karyotype anomaly was classified as de novo that is a single occurrence of this type of chromosomal disorder in this family. Strabismus in ring chromosome 15 patients is a difficult condition to manage, although success may be achieved.
A Rapid and Satisfactory Outcome with Combined Immunosuppressive Therapy in Acquired Haemophilia A with Underlying Tuberculosis
Authors: G A C Gamakaranage, C Kulathilake, P G N Nadeeshani, K H B P Fernandopulle, C S Moonesinghe, D Gunawardena, R S Gamage, N Perera, J Indrakumar
Journal: Case Rep Hematol (2022)
MeSH terms: Case Reports

Acquired haemophilia A (AHA) is a rare disorder with an incidence of 1.5 cases per million per year in the United Kingdom. The incidence could be underestimated due to difficulty in diagnosis and also due to the fact that people with low titre inhibitor levels are asymptomatic. It is usually a disease affecting elderly but a disease peak in the younger population is known. The common underlying diseases are autoimmune disorders, malignancies, infections, and drugs. However, approximately 50% of the cases do not have a specific aetiology and about 10% will not have bleeding manifestations. Therefore, an isolated prolongation of APTT should be evaluated, especially prior to any haemostatic challenges. We report a case of a middle-aged man who presented with bleeding due to AHA associated with high inhibitory titres and active pulmonary tuberculosis. He was treated with both antituberculous and combined-aggressive immunosuppressive therapy which resulted in satisfactory disease remission.
Giant epidermal cyst in the posterior neck developing over 40 years: A case report
Authors: Tae Won Park, Jong Kil Kim, Jung Ryul Kim
Journal: Exp Ther Med (2014)
Keywords: cosmetic problem, giant epidermal cyst, posterior neck, psychiatric symptom

Conventional epidermal cysts are generally small, slow-growing, non-tender, dome-shaped lesions. An epidermal cyst is usually asymptomatic until it is infected or enlarged to the extent that it causes damage to adjacent anatomical structures. However, few cases of giant epidermal cysts in the neck have been reported. The present case reports a giant epidermal cyst in the posterior neck, which grew to an extremely large size for >40 years without inflammation or rupture, and was misdiagnosed as a large soft tissue neoplasm. The patient exhibited depression and developed social anxiety due to the negative cosmetic consequences of the large mass. The patient underwent excision of the mass. At the follow-up examination two years postoperatively, there were no local recurrence and the psychiatric symptoms of the patient were completely resolved. To the best of our knowledge, a giant epidermal cyst growing for >40 years has not previously been reported.
Recurrent Transient Ischemic Attacks and Stroke Due to Carotid Dissection During Air Travel: A Case Report
Authors: Maricela Mendes, Ana Cristina Gonçalves, João Tarrio, Eduardo Rodrigues, Tatiana Luis, Dalila Perneta
Journal: Cureus (2023)
Keywords: aerospace medical association, air travel, carotid arterial dissection, stroke, transient ischemic attack
MeSH terms: Case Reports

Carotid artery dissection causes 2.5% of ischemic acute strokes and is more common in younger rather than older patients. Extracranial lesions often manifest as transient and reversible neurological deficits until a stroke occurs. In this case, we describe a 60-year-old male patient with no known cardiovascular risk factors who experienced three transient ischemic attacks (TIAs) in four days while traveling in Portugal. At the emergency department, he was treated for an occipital headache associated with nausea and two episodes of decreased left upper-limb muscle strength lasting two to three minutes with spontaneous recovery. He requested discharge against medical advice so that he could travel home. During the return flight, he had a severe right parietal headache followed by decreased muscle strength in the left arm. After an emergency landing in Lisbon, he was referred to the local emergency department, where his neurological examination revealed preferential gaze to the right exceeding the midline, left homonymous hemianopsia, minor left central facial paresis, and spastic left brachial paresis. On the National Institutes of Health Stroke Scale, he scored 7. A head CT was performed, showing no acute vascular lesions (i.e., Alberta Stroke Program Early CT Score of 10). However, an image compatible with dissection was identified on CT angiography of the head and neck and confirmed by digital subtraction angiography. The patient underwent balloon angioplasty and placement of three stents in the right internal carotid artery with vascular permeabilization. This case highlights how prolonged and incorrect cervical posture and microtrauma secondary to aircraft turbulence may be associated with carotid artery dissection in predisposed individuals. The Aerospace Medical Association guidelines advocate that patients with a recent acute neurological event should avoid air travel until clinical stability is assured. As TIA is considered a harbinger of stroke, patients should be properly evaluated and avoid air travel for at least two days after the event.
Oral myiasis caused by Chrysomya bezziana
Authors: Leena S Sankari, K Ramakrishnan
Journal: J Oral Maxillofac Pathol (2010)
Keywords: chrysomya bezziana, fly larvae, myiasis
MeSH terms: Case Reports

Oral myiasis is a rare disease caused by larvae of certain dipteran flies. It is mostly reported in developing countries and in the tropics. Herein, a case of oral myiasis in the maxillary anterior region of a 14-year-old mentally challenged boy is being reported. The myiasis was caused by the larvae of Chrysomya bezziana species. The clinical findings are presented. Etiology and the importance of oral health in special people are also discussed.
Clinical characterization of chromosome 5q21.1-21.3 microduplication: A case report
Authors: Shuang Chen, Yang Yu, Han Zhang, Leilei Li, Yuting Jiang, Ruizhi Liu, Hongguo Zhang
Journal: Open Med (Wars) (2020)
Keywords: chromosome 5, genetic counseling, microduplication, prenatal diagnosis
MeSH terms: Case Reports

Chromosomal microdeletions and microduplications likely represent the main genetic etiologies for children with developmental delay or intellectual disability. Through prenatal chromosomal microarray analysis, some microdeletions or microduplications can be detected before birth to avoid unnecessary abortions or birth defects. Although some microdeletions or microduplications of chromosome 5 have been reported, numerous microduplications remain undescribed. We describe herein a case of a 30-year-old woman carrying a fetus with a chromosome 5q21.1-q21.3 microduplication. Because noninvasive prenatal testing indicated a fetal chromosome 5 abnormality, the patient underwent amniocentesis at 22 weeks 4 days of gestation. Karyotyping and chromosomal microarray analysis were performed on amniotic fluid cells. Fetal behavioral and structural abnormalities were assessed by color and pulsed Doppler ultrasound. Clinical characteristics of the newborn were assessed during the follow-up. The left lateral ventricle appeared widened on ultrasound, but the infant appeared normal at birth. The 5q21.1-q21.3 microduplication in the fetus was inherited from his mother. There are seven genes in this duplication region, but their main functions are unclear. According to this case report, microduplication in this region could represent a benign mutation. Clinicians should pay attention to the breakpoints and the genes involved when counseling patients with microdeletions and microduplications.
Acute Guillain-Barré polyradiculoneuritis indicative of COVID-19 infection: a case report
Authors: Hugues Ghislain Atakla, Mahugnon Maurel Ulrich Dénis Noudohounsi, Hélène Sacca, Nana Rahamatou Aminou Tassiou, Wilfried Cadnel Noudohounsi, Dismand Stephan Houinato
Journal: Pan Afr Med J (2020)
Keywords: covid-19, guillain barré polyradiculoneuritis, guinea, case report
MeSH terms: Betacoronavirus / pathogenicity, Coronavirus Infections / complications, Guillain-Barre Syndrome / etiology, Pneumonia, Viral / complications, Case Reports, Adult, Atrial Fibrillation / complications, Azithromycin / therapeutic use, Betacoronavirus / isolation & purification, COVID-19, COVID-19 Testing, Chloroquine / adverse effects, Chloroquine / therapeutic use, Clinical Laboratory Techniques, Combined Modality Therapy, Contraindications, Drug, Coronavirus Infections / diagnosis, Coronavirus Infections / therapy, Early Diagnosis, Guillain-Barre Syndrome / diagnosis, Guillain-Barre Syndrome / physiopathology, Guillain-Barre Syndrome / therapy, Humans, Male, Muscle Weakness / etiology, Nasopharynx / virology, Olfaction Disorders / etiology, Oxygen Inhalation Therapy, Pandemics, Pneumonia, Viral / diagnosis, Pneumonia, Viral / therapy, Quadriplegia / etiology, Respiration, Artificial, SARS-CoV-2, Urinary Incontinence / etiology, Azithromycin, Chloroquine

The new coronavirus 2019 epidemic declared in China on December 31, 2019 soon spread to the rest of the world, becoming the subject of an unprecedented health pandemic according to the World Health Organization's declaration of March 11, 2020. It is a disease that has the potential to cause multiple systemic infections. We report here the case of an acute polyradiculoneuritis of the Guillain-Barré type (GBS) indicative of a COVID-19 infection. This is a 41 year old patient seen for ascending, symmetrical and bilateral, progressive and acute tetraparesis with in a context of influenza syndrome and digestive infections treated 2 weeks earlier. During a COVID-19 infection, certain inflammatory cells stimulated by the virus produce inflammatory cytokines creating immune-mediated processes. The same mechanism is observed in GBS being also an immune-mediated disorder. The management of this disease in COVID-19 positive patients does not differ from that of patients who do not carry the virus. The risk of respiratory distress in COVID-19 positive patients becomes twice as great in patients with GBS who test positive for COVID-19 at the same time. Monitoring for hemodynamic disorders and respiratory distress in a neuro-intensive care unit may be fruitful.
Decompensated cirrhosis after renal transplantation: a case report
Authors: Vinay Patel, Luis Marsano, Mary Eng
Journal: Case Rep Transplant (2011)
MeSH terms: Case Reports

Patients with end-stage liver disease with renal failure can be considered for simultaneous liver kidney transplantation. There are, however, no clear guidelines as to the management of the well-compensated cirrhotic patient with end-stage renal disease. We present the case of a patient with cirrhosis who decompensated after renal transplantation. With no indication for liver transplantation, can these patients safely undergo renal transplantation?
Hyperplastic Polyps and Gastroduodenal Pseudomelanosis
Authors: Akanksha Agrawal, Deepanshu Jain, Vivian Arguello, Daniel Sher
Journal: Case Rep Gastrointest Med (2017)
MeSH terms: Case Reports

Pseudomelanosis is a rare endoscopic finding of the upper gastrointestinal tract characterized by hemosiderin deposits in histiocytes of lamina propria. We report a case of 72-year-old lady on chronic oral iron supplementation diagnosed with gastric hyperplastic polyps with background pseudomelanosis of stomach and duodenum. Concomitant occurrence of gastric pseudomelanosis, duodenal pseudomelanosis, and gastric hyperplastic polyps has never been reported. Its presence in the absence of gastritis raises question if pseudomelanosis could be associated with hyperplastic polyp. With limited literature on its etiology and prognosis, these patients should be prospectively followed and reported to study the natural history of the disease.
Clinical particularities in an atypical case of retinitis pigmentosa
Authors: Stanca T Horia, Tabacaru Bogdana, Elena Suvac
Journal: Rom J Ophthalmol (2016)
MeSH terms: Macular Edema / diagnosis, Optic Disk Drusen / diagnosis, Retinitis Pigmentosa / diagnosis, Case Reports, Adult, Antioxidants / therapeutic use, Carbonic Anhydrase Inhibitors / therapeutic use, Diagnosis, Differential, Disease Progression, Drug Therapy, Combination, Electroretinography / methods, Female, Humans, Macular Edema / complications, Macular Edema / drug therapy, Optic Disk Drusen / complications, Optic Disk Drusen / drug therapy, Retinitis Pigmentosa / complications, Retinitis Pigmentosa / drug therapy, Severity of Illness Index, Tomography, Optical Coherence, Treatment Outcome, Ultrasonography, Visual Field Tests, Antioxidants, Carbonic Anhydrase Inhibitors

We present a case of Retinitis Pigmentosa with atypical aspect of fundus (Punctata Albescens), associated with Cystoid Macular Oedema and Optic Disc Drusen.
Posttraumatic cholesteatoma complicated by a facial paralysis: a case report
Authors: M Chihani, A Aljalil, M Touati, B Bouaity, H Ammar
Journal: Case Rep Otolaryngol (2012)
MeSH terms: Case Reports

The posttraumatic cholesteatoma is a rare complication of different types of the temporal bone damage. Its diagnosis is often done after several years of evolution, sometimes even at the stage of complications. A case of posttraumatic cholesteatoma is presented that was revealed by a facial nerve paralysis 23 years after a crash of the external auditory canal underlining the importance of the otoscopic and radiological regular monitoring of the patients with a traumatism of the temporal bone.
De novo acute lymphoblastic leukemia-like disease of high grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements: a case report and literature review
Authors: Akiko Uchida, Yasushi Isobe, Yu Uemura, Yuji Nishio, Hirotaka Sakai, Masayuki Kato, Kaori Otsubo, Masahiro Hoshikawa, Masayuki Takagi, Ikuo Miura
Journal: BMC Clin Pathol (2017)
Keywords: acute lymphoblastic leukemia-like disease, bcl2, high grade b-cell lymphoma with myc and bcl2 and/or bcl6 rearrangements, myc, t(14, 18)(q32, q21)
MeSH terms: Case Reports

Background:
B-cell lymphomas harboring the 8q24/MYC plus 18q21/BCL2 translocations are now referred to as high grade B-cell lymphoma with MYC and BCL2 and/or BCL6 rearrangements (HGBL-MBR). Although HGBL-MBR is frequently found in cases with diffuse large B-cell lymphoma or Burkitt lymphoma-like B-cell lymphoma, acute lymphoblastic leukemia (ALL)-like disease of HGBL-MBR (AL-HGBL-MBR) has been reported incidentally.
Case presentation:
A 69-year-old Japanese woman developed remittent fever and increasing systemic bone pain. The bone marrow examination revealed that more than 90% of nuclear cells were blastoid cells, which were positive for CD10, CD19, CD20, and surface IgMκ and negative for terminal deoxynucleotidyl transferase (TdT). Cytogenetic studies confirmed that the patient had de novo AL-HGBL-MBR with the extra copies of MYC and loss of chromosome 17p. She showed resistance to chemoimmunotherapy and died seven months after the diagnosis. The literature review identified further 47 de novo AL-HGBL-MBR cases within the last 32 years. The median age was 61 years (range, 27 - 86); the male/female ratio was 2.0. Thirty-eight cases (79%) presented a clinical picture of ALL at diagnosis; 14 (36%) of 39 available cases showed central nervous system involvement. Loss of 17p and translocations at 2p12-13, 3q27, 9p13 were frequently observed as additional cytogenetic abnormalities. Although the median survival of 46 available cases was only five months (range, 0.1-18), rituximab use significantly improved the survival of AL-HGBL-MBR (log-rank test, P = 0.0294).
Conclusion:
Our patient and most reported de novo AL-HGBL-MBR cases showed resistance to conventional chemoimmunotherapy and disastrous consequences. AL-HGBL-MBL is a rare, but should be considered a distinct clinical condition in HGBL-MBR. Other therapeutic strategies, such as using inhibitors of MYC and BCL2, are needed to overcome the chemoresistance of AL-HGBL-MBR.
Doença cística adventicial da artéria poplítea: relato de caso
Authors: Julio Cesar Peclat de Oliveira, Fernando Tebet Ramos Barreto, Diogo Di Battista de Abreu E Souza, João Marcos Fonseca E Fonseca, Bernardo de Castro Abi Ramia Chimelli, Ana Paula Rolim Maia Peclat, Marcos Arêas Marques, Stenio Karlos Alvim Fiorelli
Journal: J Vasc Bras (2018)
MeSH terms: Case Reports

Abstract:
Adventitial cystic disease of the popliteal artery is an uncommon pathology that should be considered in differential diagnostic of younger patients with intermittent claudication and without risk factors for peripheral atherosclerotic arterial disease. We report the case of a 51 year-old male patient presenting with lower-limb intermittent claudication in whom this pathology was diagnosed and who was treated with segmental arterial resection and autologous saphenous vein interposition. We also discuss diagnostic and therapeutic alternatives.
Case Report: Tocilizumab Treatment for VEXAS Syndrome With Relapsing Polychondritis: A Single-Center, 1-Year Longitudinal Observational Study In Japan
Authors: Yosuke Kunishita, Yohei Kirino, Naomi Tsuchida, Ayaka Maeda, Yuichiro Sato, Kaoru Takase-Minegishi, Ryusuke Yoshimi, Hideaki Nakajima
Journal: Front Immunol (2022)
Keywords: 1-year follow-up, vexas syndrome, autoinflammatory diseases, relapsing polychondritis, tocilizumab (tcz)
MeSH terms: Polychondritis, Relapsing / complications, Polychondritis, Relapsing / diagnosis, Polychondritis, Relapsing / drug therapy, Case Reports, Observational Study, Research Support, Non-U.S. Gov't, Antibodies, Monoclonal, Humanized, Glucocorticoids, Humans, Japan, Antibodies, Monoclonal, Humanized, Glucocorticoids, tocilizumab

Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is an autoinflammatory disease caused by somatic variants in the UBA1 gene that lead to severe systemic inflammation and myelodysplastic syndrome. Although no standard therapy has been established yet, azacitidine and bone marrow transplantation have been reported to be promising possibilities; however, the indications for these treatments are problematic and not necessarily applicable to all patients. We previously reported the results of short-term treatment with tocilizumab (TCZ) and glucocorticoids in three patients with VEXAS syndrome. In this paper, we report that the combination of TCZ and glucocorticoids allowed the patients to continue treatment for at least one year without significant disease progression. Glucocorticoids were able to be reduced from the start of TCZ. Adverse events were herpes zoster, skin ulceration after cellulitis, and decreased blood counts. The results suggest the significance of this treatment as a bridge therapy for the development of future therapies.
Orthotopic Liver Transplantation: Is There a Risk for Listeria monocytogenes Infection?
Authors: Urs Ehehalt, Stefan Schmiedel, Ansgar W Lohse
Journal: Case Rep Med (2010)
MeSH terms: Case Reports

Immunosuppression of any kind is a known risk factor for infection with Listeria monocytogenes (L. monocytogenes). Particularly, patients with impaired liver function are at increased risk of developing an aggravated course of infection with this bacterial pathogen (see Nolla-Salas et al.; 2002 and Cabellos et al.; 2008). It is a well-known pathogen in immunocompromised patients, but has only seldom been reported following orthotopic liver transplantation. Invasion of the central nervous system presenting as meningitis or meningoencephalitis and bacteremia are the principal clinical manifestations of listerial infections (see Brouwer et al.; 2006). We present an account of a case of a patient who developed L. monocytogenes meningitis during the early period after liver transplantation.
Anterior Ischemic Optic Neuropathy in a Child Receiving Chronic Hemodialysis
Authors: Joyce Moore, Jennifer Klowak, Gloria Isaza, Steven Arora, Vladimir Belostotsky, Nina Stein, Rahul Chanchlani
Journal: Case Rep Nephrol (2020)
MeSH terms: Case Reports

Anterior ischemic optic neuropathy (AION) occurs due to hypoperfusion of the optic nerve and is a rare complication in patients receiving maintenance dialysis. To date, AION has only been reported in 22 children, all of whom were receiving peritoneal dialysis. We report the first case of AION in a 2-year 11-month-old child receiving chronic hemodialysis secondary to polycystic kidney disease from a phosphomannomutase 2 gene mutation. This case highlights the consideration for frequent blood pressure monitoring and ophthalmic screening in a certain cohort of children receiving chronic dialysis.
Mass-Like Ground-Glass Opacities in Sarcoidosis: A Rare Presentation Not Previously Described
Authors: Marie Tominna, Sayf Al-Katib
Journal: Case Rep Radiol (2018)
MeSH terms: Case Reports

Various typical and atypical imaging findings for pulmonary sarcoidosis have been described in the literature. Ground-glass opacities are one of the atypical manifestations, reported as diffuse or patchy ill-defined opacities frequently associated with additional findings and interstitial nodules. We performed a literature review to determine if our case had previously been described. The literature describes cases of mass-like consolidations, but there are no reports of mass-like ground-glass opacities. The appearance of the ground-glass opacities in our case is unique, appearing as discrete well-defined mass-like ground-glass opacities in a peribronchovascular distribution without additional parenchymal findings typically seen in sarcoidosis.