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   Articles with "atypical presentation" as a keyword



Atypical presentation of Angelman syndrome with intact expressive language due to low‐level mosaicism

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recommendations! 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
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Internuclear ophthalmoplegia as an atypical presentation of lacunar stroke in CADASIL

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recommendations! 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

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recommendations! 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

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recommendations! 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
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Atypical Presentation of Critical Lower Limb Ischaemia Treated with Aortobifemoral Biosynthetic Prosthesis

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recommendations! 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

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recommendations! 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.

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recommendations! 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 Oguchi disease with severe cystoid macular edema and compound heterozygous SAG pathogenic variants.

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recommendations! Published in 2025 at "Ophthalmic genetics"

DOI: 10.1080/13816810.2025.2565631

Abstract: BACKGROUND Oguchi disease, a rare form of congenital stationary night blindness (CSNB), is an autosomal recessive inherited retinal disorder (IRD) caused by pathogenic variants in the SAG gene, which encodes arrestin-1, a key protein in… read more here.

Keywords: pathogenic variants; atypical presentation; oguchi disease; sag ... See more keywords

Atypical presentation of COVID-19 in a frail older person

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recommendations! 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

Kimura Disease: An Atypical Presentation

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recommendations! Published in 2024 at "American Journal of Clinical Pathology"

DOI: 10.1093/ajcp/aqae129.189

Abstract: Kimura disease is a benign, chronic inflammatory process which presents with enlarged, painless lymphadenopathy. The etiology is currently unknown. It is most commonly seen in young males of Asian descent and is rare in other… read more here.

Keywords: disease; disease atypical; etiology; atypical presentation ... See more keywords

Atypical Presentation of Monkeypox-Virus Infection in a Post-Vaccinated Altered Immunocompetent Patient -A case-report.

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recommendations! 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