A retrospective analysis of clinical manifestations of patients with acute intermittent porphyria: three case reports and literature review

2021 ◽  
Author(s):  
Qingyang Li ◽  
Yi Ren ◽  
Jing Yang
Keyword(s):  
Literature Review ◽  
Retrospective Analysis ◽  
Case Reports ◽  
Clinical Manifestations ◽  
Acute Intermittent Porphyria

scholarly journals Arthritis in children with LRBA deficiency – case report and literature review

2019 ◽  
Vol 17 (1) ◽  
Author(s):  
Rotem Semo Oz ◽  
Melissa S. Tesher
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Rheumatic Disease ◽  
Case Reports ◽  
Clinical Manifestations ◽  
Immune Dysregulation ◽  
Joint Involvement ◽  
Female Ratio ◽  
Minimal Data ◽  
Lrba Deficiency

Abstract Background Lipopolysaccharide (LPS)-responsive and beige like anchor (LRBA) deficiency is categorized as a subtype of common variable immune deficiency (CVID). A growing number of case reports and cohorts reveal a broad spectrum of clinical manifestations and variable phenotype expression, including immune dysregulation, enteropathy and recurrent infections. The association between rheumatic disease and CVID generally has been well established, arthritis has been less frequently reported and minimal data regarding its clinical features and characteristic in LRBA deficiency has been published. This case report and literature review evaluates the characteristics and features of arthritis in LRBA deficiency patients. Case presentation and review results Herein, we describe a unique case of LRBA deficiency first presented with poly articular arthritis. Alongside the report, a literature review focusing on LRBA deficiency, rheumatic disease and arthritis has been conducted. We reviewed 43 publications. Among these, 7 patients were identified with arthritis. Age of first presentation was six weeks to 3 years. Male to female ratio was 4/3. Two patients were diagnosed with polyarticular Juvenile idiopathic arthritis (JIA) and three with oligoarticular JIA. Each patient was found to have different genomic mutation. The treatment was diverse and included corticosteroids, cyclosporine, methotrexate, adalidumab and abatacept. Conclusion Joint involvement is variable in LRBA deficiency, hence it should always be kept in mind as a differential diagnosis for a patient with combination of juvenile arthritis and clinically atypical immune dysregulation and / or immunodeficiency.

scholarly journals Lipoma of the cerebellopontine angle: case reports and literature review

1994 ◽  
Vol 52 (1) ◽  
pp. 58-63 ◽  
Author(s):  
Marcelo P. Ferreira ◽  
Nelson P. Ferreira ◽  
Rene Lenhardt
Keyword(s):  
Surgical Treatment ◽  
Literature Review ◽  
Cerebellopontine Angle ◽  
Case Reports ◽  
Clinical Manifestations ◽  
Treatment Strategies ◽  
Diagnostic Methods ◽  
Surgical Indications ◽  
Complete Excision

Two patients with cerebellopontine angle (CPA) lipoma were studied. They were submitted to surgical treatment. Available literature was reviewed and 29 cases with same lesion were identified which had been treated by surgery. Clinical manifestations, possibility of diagnostic methods, surgical indications and treatment strategies are discussed. Attention is called to the peculiarities of CPA lipomas and the doubtful vality of attempting complete excision in all cases.

scholarly journals Manifestasi Oral Infeksi COVID-19

e-GIGI ◽  
2021 ◽  
Vol 9 (2) ◽  
pp. 256
Author(s):  
Yobel R. Woran ◽  
Lydia E. N. Tendean ◽  
Christy N. Mintjelungan
Keyword(s):  
Literature Review ◽  
Critical Appraisal ◽  
Case Reports ◽  
Nasal Congestion ◽  
Clinical Manifestations ◽  
Google Scholar ◽  
Oral Manifestations ◽  
Runny Nose ◽  
Dental Instruments ◽  
Patients Experience

Abstract: The COVID-19 outbreak is caused by SARS-CoV-2 that spread rapidly throughout the world. The most common clinical manifestations of COVID-19 are fever, fatigue, and dry cough. Some patients experience nasal congestion, runny nose, headache, conjunctivitis, sore throat, diarrhea, skin rash, loss of smell and taste. Oral manifestations of COVID-19 infection are also reported. Dentists are prone to cross-infections of several infectious diseases because they are often exposed to saliva and blood. These viruses are transmitted through inhalation of aerosols and droplets containing the viruses or direct contact with mucous membranes, oral fluids, dental instruments, and surfaces contaminated with the virus. This study was aimed to determine the oral manifestations of COVID-19 infection. This was a literature review study searching three databases, namely Pubmed, ClinicalKey and Google Scholar. The keywords used were oral AND manifestations AND COVID-19. Selection based on inclusion and exclusion criteria was carried out by critical appraisal. There were eight literatures in the form of case reports. The results showed that oral manifestations commonly found in patients with clinical COVID-19 were ulcers, petechiae, macules, and plaques with variations in quantity, color appearance, and localization. Lesions were found on the palate, tongue, labial mucosa, gingiva, lips, and oropharynx. In conclusion, oral manifestations could be found in clinical COVID-19 patients, however, it is not certain whether these manifestations are directly caused by SARS-CoV-2 or are as secondary manifestations.Keywords: oral manifestations; COVID-19 Abstrak: Wabah COVID-19 disebabkan oleh SARS-CoV-2 yang menyebar dengan cepat hingga ke seluruh dunia. Infeksi COVID-19 mempunyai manifestasi klinis paling umum seperti demam, rasa lelah, dan batuk kering. Beberapa pasien mengalami hidung tersumbat, pilek, nyeri kepala, konjungtivitis, sakit tenggorokan, diare, ruam kulit, hilang penciuman dan pengecapan. Bahkan terdapat laporan penemuan manifestasi oral pada infeksi COVID-19. Dokter gigi sebagai profesi yang rentan terjadi infeksi silang beberapa penyakit menular karena sering terpapar dengan saliva dan darah. Virus ini memungkinkan terjadinya penularan lewat terhirupnya aerosol dan droplet yang mengandung virus atau kontak langsung dengan membran mukosa, cairan mulut, instrumen kedokteran gigi dan permukaan yang terkontaminasi virus. Penelitian ini bertujuan untuk mengetahui manifestasi oral infeksi COVID-19. Jenis penelitian ialah suatu literature review dengan pencarian menggunakan tiga database yaitu Pubmed, ClinicalKey dan Google Scholar. Kata kunci yang digunakan yaitu oral AND manifestations AND COVID-19. Setelah seleksi berdasarkan kriteria inklusi dan ekslusi dilakukan critical appraisal dan didapatkan delapan literatur yang berupa laporan kasus.Hasil penelitian mendapatkan bahwa manifestasi oral pada pasien klinis COVID-19 yang sering ditemukan, seperti ulkus, petekie, makula, dan plak dengan variasi kuantitas, penampakan warna, dan lokalisasi. Lokasi lesi ditemukan pada palatum, lidah, mukosa labial, gingiva, bibir dan orofaring. Simpulan penelitian ini ialah manifestasi oral dapat ditemukan pada pasien klinis COVID-19 tetapi belum diketahui pasti apakah secara langsung disebabkan oleh SARS-CoV-2 atau merupakan manifestasi sekunder.Kata kunci: manifestasi oral; COVID-19

scholarly journals Phenotypic and Genotypic Characterization of NPRL2-Related Epilepsy: Two Case Reports and Literature Review

2021 ◽  
Vol 12 ◽  
Author(s):  
Yulin Sun ◽  
Lin Wan ◽  
Huimin Yan ◽  
Zhichao Li ◽  
Guang Yang
Keyword(s):  
Literature Review ◽  
Frameshift Mutation ◽  
Focal Epilepsy ◽  
Case Reports ◽  
Clinical Manifestations ◽  
Gene Mutations ◽  
Pathogenic Variants ◽  
Treatment Processes ◽  
Generation Sequencing

The phenotype of nitrogen permease regulator-like 2 (NPRL2) gene-related epilepsy clinically manifests as a range of epilepsy syndromes, including familial focal epilepsy with variable foci (FFEVF), sleep-related hypermotor epilepsy (SHE), temporal lobe epilepsy (TLE), frontal lobe epilepsy (FLE), and infantile spasms (IS). The association between phenotype and genotype of NPRL2 variants has not been widely explored. This study aimed to explore the phenotype and genotype spectrum of NPRL2-related epilepsy. Here, we presented two clinical cases with NPRL2-related epilepsy, and discussed the characteristics, diagnosis, and treatment processes in the context of existing literature. Two novel NPRL2 likely pathogenic variants were identified by next-generation sequencing, including one splicing mutation (c.933-1G>A), and one frameshift mutation (c.257delG). The results of literature review showed that there were a total of 20 patients with NPRL2-related epilepsy whose mutations were mostly missense and hereditary. These findings indicate that the possibility of NPRL2 gene mutations in focal epilepsy should be considered for patients with family history, and that patients carrying different NPRL2 variants have different clinical manifestations. Our study expanded the genotype spectrum of NPRL2 and suggested that the type of NPRL2 variants might provide important information for the prognosis evaluation.

scholarly journals Spontaneous giant rectus sheath hematoma in patients with COVID-19: two case reports and literature review

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Behzad Nematihonar ◽  
Shohra Qaderi ◽  
Jaffer Shah ◽  
Javad zebarjadi Bagherpour
Keyword(s):  
Literature Review ◽  
Physical Examination ◽  
Case Reports ◽  
Anticoagulation Therapy ◽  
Clinical Manifestations ◽  
Rectus Sheath ◽  
Global Public Health ◽  
Abdomen Ct ◽  
Tender Mass ◽  
Rectus Sheath Hematoma

Abstract Introduction Coronavirus disease 2019, COVID-19, as a global public health emergency, has come with a broad spectrum of clinical manifestations and complications. In this study, we present a unique complication of this disease. Presentation of cases (A) A 65-year-old woman with a known case of COVID-19; on the second day of admission, the patient presented sudden tachycardia and hypogastric pain; on abdomen physical examination, a huge lower abdominal tender mass was noticed. (B) A 50-year-old woman with COVID-19, 4 days after admission, started complaining of tachycardia, pain, and mass in the lower abdomen. On abdomen physical examination, a huge lower abdominal tender mass was noticed. Both of the patients underwent an abdomen CT scan which confirmed a huge rectus sheath hematoma (RSH). Both of the patients underwent angioembolization of the inferior epigastric artery. The patient recovered completely and no evidence of further expansion was seen after 2 weeks of follow-up. Discussion Hemorrhagic issues in COVID-19 patients remain poorly understood. Physicians should discuss risks of RSH in patients where continuous anticoagulation therapy will be reinstated. With increased clinician awareness of the need for RSH screening in COVID-19 patients with acute abdominal pain, the interprofessional team of healthcare providers can maximize patient safety and reduce hospitalization time, especially in high-risk patients at risk for unnecessary surgery. Conclusions These two reports and literature review demonstrate the need of active surveillance for possible hemorrhagic complications in patients with COVID-19 infection.

scholarly journals Case Report: Ischemic Enterocolitis Associated with Coronavirus Disease 2019: Two Case Reports and a Review of the Literature

2021 ◽  
Author(s):  
Takeshi Kinjo ◽  
Akira Hokama ◽  
Hideta Nakamura ◽  
Kazuya Miyagi ◽  
Yuri Higure ◽  
...  
Keyword(s):  
Computed Tomography ◽  
Case Report ◽  
Literature Review ◽  
Ischemic Colitis ◽  
Case Reports ◽  
Clinical Manifestations ◽  
Review Of The Literature ◽  
Primary Target ◽  
Social Concerns ◽  
D Dimer

The COVID-19 pandemic has caused serious health and social concerns worldwide. Although the primary target of SARS-CoV-2 is the respiratory tract, SARS-CoV-2 infection also causes extrapulmonary symptoms. Previous articles have reported ischemic colitis in COVID-19 patients; however, information regarding its clinical manifestations and pathophysiology is limited. In this case report, we present two cases of ischemic enterocolitis in COVID-19 patients and review past case reports. Our literature review has shown that computed tomography rather than endoscopy was used for the diagnosis, and any region of the intestine was affected. Because the elevation of the D-dimer, which suggested a hypercoagulable state, was reported in most cases, we assumed that thrombosis at any level in the artery and vein was involved in the pathophysiology of COVID-19–associated enterocolitis. SARS-CoV-2–induced endotheliitis can cause both coarctation of the vessels and thrombosis; therefore, both patterns of ischemic colitis, occlusive and nonocclusive, may be involved in COVID-19–associated enterocolitis.

scholarly journals Kikuchi-Fujimoto Disease With Encephalopathy in Children: Case Reports and Literature Review

2021 ◽  
Vol 9 ◽  
Author(s):  
Yu-Ting Pan ◽  
Li-Ming Cao ◽  
Yan Xu ◽  
Zhi-Dan Fan ◽  
Hai-Guo Yu
Keyword(s):  
Literature Review ◽  
Case Reports ◽  
Brain Mri ◽  
Clinical Manifestations ◽  
Brain Magnetic Resonance Imaging ◽  
Low Grade ◽  
Mri Findings ◽  
Laboratory Findings ◽  
Protein Levels ◽  
Csf Analysis

Background: Kikuchi-Fujimoto disease (KFD) is a benign and self-limiting disease characterized by regional lymphadenitis and low-grade fever. Encephalopathy may present in children with KFD. We present three cases of KFD with encephalopathy in children and a literature review.Methods: Literature published between 2010 and 2020 was reviewed to understand the clinical features, laboratory findings, and treatments for encephalopathy occurring in children with KFD.Results: The interval between KFD and onset of neurological symptoms was 10 days to 3 months. Laboratory results were normal, except for high protein levels in cerebrospinal fluid findings. Brain magnetic resonance imaging (MRI) findings include hyperintense T2 and FLAIR signal in the supratentorial white matter, deep gray matter, brain stem, cerebellum, temporal lobes, pons, and basal ganglia. Glucocorticoids and immunoglobulin could be effective for treating KFD with encephalopathy.Conclusion: The early clinical manifestations of KFD with encephalopathy in children lack specificity, and the diagnosis is mainly based on CSF analysis and brain MRI findings. Early and timely immunomodulatory therapy is effective and can improve the prognosis of patients with KFD with encephalopathy.

Investigating Diseases and Chemicals in COVID-19 Literature with Text Mining (Preprint)

2020 ◽  
Author(s):  
Amir Karami ◽  
Brandon Bookstaver ◽  
Melissa Nolan
Keyword(s):  
Text Mining ◽  
Literature Review ◽  
Topic Modeling ◽  
Large Scale ◽  
Clinical Manifestations ◽  
International Health ◽  
Research Papers ◽  
Strategic Plans ◽  
Funding Agencies ◽  
The Relationship

BACKGROUND The COVID-19 pandemic has impacted nearly all aspects of life and has posed significant threats to international health and the economy. Given the rapidly unfolding nature of the current pandemic, there is an urgent need to streamline literature synthesis of the growing scientific research to elucidate targeted solutions. While traditional systematic literature review studies provide valuable insights, these studies have restrictions, including analyzing a limited number of papers, having various biases, being time-consuming and labor-intensive, focusing on a few topics, incapable of trend analysis, and lack of data-driven tools. OBJECTIVE This study fills the mentioned restrictions in the literature and practice by analyzing two biomedical concepts, clinical manifestations of disease and therapeutic chemical compounds, with text mining methods in a corpus containing COVID-19 research papers and find associations between the two biomedical concepts. METHODS This research has collected papers representing COVID-19 pre-prints and peer-reviewed research published in 2020. We used frequency analysis to find highly frequent manifestations and therapeutic chemicals, representing the importance of the two biomedical concepts. This study also applied topic modeling to find the relationship between the two biomedical concepts. RESULTS We analyzed 9,298 research papers published through May 5, 2020 and found 3,645 disease-related and 2,434 chemical-related articles. The most frequent clinical manifestations of disease terminology included COVID-19, SARS, cancer, pneumonia, fever, and cough. The most frequent chemical-related terminology included Lopinavir, Ritonavir, Oxygen, Chloroquine, Remdesivir, and water. Topic modeling provided 25 categories showing relationships between our two overarching categories. These categories represent statistically significant associations between multiple aspects of each category, some connections of which were novel and not previously identified by the scientific community. CONCLUSIONS Appreciation of this context is vital due to the lack of a systematic large-scale literature review survey and the importance of fast literature review during the current COVID-19 pandemic for developing treatments. This study is beneficial to researchers for obtaining a macro-level picture of literature, to educators for knowing the scope of literature, to journals for exploring most discussed disease symptoms and pharmaceutical targets, and to policymakers and funding agencies for creating scientific strategic plans regarding COVID-19.

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