Atypical presentation of Angelman syndrome with intact expressive language due to low‐level mosaicism
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.2018
Abstract: Angelman syndrome (AS) occurs due to a lack of expression or function of the maternally inherited UBE3A gene. Individuals with AS typically have significant developmental delay, severe speech impairment with absent to minimal verbal language,… read more here.
Keywords: atypical presentation; syndrome intact; language; presentation angelman ... See more keywords
Internuclear ophthalmoplegia as an atypical presentation of lacunar stroke in CADASIL
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Thrombosis and Thrombolysis"
DOI: 10.1007/s11239-020-02359-2
Abstract: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common genetic vascular disorder of the central nervous system and is characterized by recurrent subcortical ischemic stroke and extensive white matter abnormalities.… read more here.
Keywords: atypical presentation; internuclear ophthalmoplegia; presentation lacunar; lacunar stroke ... See more keywords
ATYPICAL PRESENTATION OF AORTIC DISSECTION DURING COVID-19 PANDEMIC
Sign Up to like & getrecommendations! Published in 2021 at "Chest"
DOI: 10.1016/j.chest.2021.07.148
Abstract: TOPIC: Cardiovascular Disease TYPE: Medical Student/Resident Case Reports INTRODUCTION: Aortic dissection (AoD) is extremely rare, with an annual incidence of 2.5-3.5 per 100,000 persons and a mortality rate between 13% - 50%. AoD commonly presents… read more here.
Keywords: covid pandemic; dissection; atypical presentation; aortic dissection ... See more keywords
Atypical presentation and outcome of cervicogenic headache in patients with cervical degenerative disease: A single-center experience
Sign Up to like & getrecommendations! Published in 2017 at "Clinical Neurology and Neurosurgery"
DOI: 10.1016/j.clineuro.2017.05.016
Abstract: OBJECTIVE Cervicogenic headache affects a significant portion of the entire population. This type of headache especially with atypical presentation is often hard to diagnose and manage since its etiopathophysiology is not been yet well understood.… read more here.
Keywords: atypical presentation; presentation; outcome; type headache ... See more keywords
Atypical Presentation of Critical Lower Limb Ischaemia Treated with Aortobifemoral Biosynthetic Prosthesis
Sign Up to like & getrecommendations! Published in 2019 at "EJVES Short Reports"
DOI: 10.1016/j.ejvssr.2018.11.003
Abstract: The case of a 67-year old man initially presenting with claudication, which soon progressed to rest pain and ulcers in the thighs, groins, scrotum, sacral and gluteal regions, is presented. Computed tomography angiography revealed occlusion… read more here.
Keywords: atypical presentation; presentation critical; lower limb; limb ischaemia ... See more keywords
Pigment dispersion syndrome presenting as endothelial dystrophy: An atypical presentation
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Current Ophthalmology"
DOI: 10.1016/j.joco.2018.11.004
Abstract: Purpose To describe an atypical presentation of pigment dispersion syndrome (PDS) with diffuse, homogeneous pigment deposition on the corneal endothelium and its management. Methods A 44-year-old female was referred to a cornea clinic as a… read more here.
Keywords: atypical presentation; presentation; pigment; dispersion syndrome ... See more keywords
ATYPICAL PRESENTATION OF SEMINOMA IN THE PROSTATE-CASE REPORT.
Sign Up to like & getrecommendations! Published in 2019 at "Urology"
DOI: 10.1016/j.urology.2019.05.011
Abstract: Seminoma is a very common germ cell tumor (GCT) of the testicle. It is a malignant neoplasm and is one of the most treatable and curable cancers, with a survival rate of over 95% if… read more here.
Keywords: prostate; atypical presentation; presentation seminoma; case ... See more keywords
Atypical presentation of COVID-19 in a frail older person
Sign Up to like & getrecommendations! Published in 2020 at "Age and Ageing"
DOI: 10.1093/ageing/afaa068
Abstract: Abstract Common symptoms of pandemic coronavirus disease (COVID-19) include fever and cough. We describe a 94-year-old man with well-controlled schizoaffective disorder, who presented with non-specific and atypical symptoms: delirium, low-grade pyrexia and abdominal pain. He… read more here.
Keywords: atypical presentation; presentation covid; covid frail; frail older ... See more keywords
Atypical Presentation of Monkeypox-Virus Infection in a Post-Vaccinated Altered Immunocompetent Patient -A case-report.
Sign Up to like & getrecommendations! Published in 2022 at "Sexually transmitted diseases"
DOI: 10.1097/olq.0000000000001723
Abstract: ABSTRACT This is the first known case of a patient with atypical monkeypox presentations after being vaccinated with JYNNOES™ vaccine. The initial presentation was of acute bacterial paronychia. This incident suggests the need for individuals… read more here.
Keywords: atypical presentation; presentation monkeypox; infection; case ... See more keywords
An atypical presentation of mpox transmitted between transgender males through oral sex.
Sign Up to like & getrecommendations! Published in 2023 at "Sexually transmitted diseases"
DOI: 10.1097/olq.0000000000001831
Abstract: ABSTRACT The current multi-country outbreak of mpox in 2022 is the first occurrence of widespread transmission in non-endemic countries. Prior cases in the United States involved exposure through foreign travel or direct contact with infected… read more here.
Keywords: mpox; atypical presentation; mpox transmitted; oral sex ... See more keywords
Atypical presentation of Dowling–Degos disease with novel and recurrent mutations in POFUT1
Sign Up to like & getrecommendations! Published in 2018 at "Clinical and Experimental Dermatology"
DOI: 10.1111/ced.13649
Abstract: 1 Kopf AW, Morrill SD, Silberberg I. Broad spectrum of leukoderma acquisitum centrifugum. Arch Dermatol 1965; 92: 14–33; discussion 33–5. 2 Yang Y, Li S, Zhu G et al. A similar local immune and oxidative… read more here.
Keywords: atypical presentation; dermatology; acad dermatol; dermatol 2017 ... See more keywords