[A new case of Rowell's syndrome].
Sign Up to like & getrecommendations! Published in 2017 at "Annales de dermatologie et de venereologie"
DOI: 10.1016/j.annder.2017.02.005
Abstract: INTRODUCTION This article introduces a new case of Rowell's syndrome, a controversial entity defined by the association of lupus erythematosus and erythema multiforme. OBSERVATION A 43-year-old woman was diagnosed with lupus erythematosus induced by esomeprazole.… read more here.
Keywords: case rowell; new case; rowell syndrome; lupus erythematosus ... See more keywords
Hydrocephalus in pyridoxine-dependent epilepsy: New case and literature review
Sign Up to like & getrecommendations! Published in 2018 at "Brain and Development"
DOI: 10.1016/j.braindev.2017.12.005
Abstract: INTRODUCTION Pyridoxine-dependent epilepsy (PDE) is a rare disorder of the lysine metabolism, characterized by a pharmacoresistant epileptic encephalopathy that usually begins in the neonatal period. However, its phenotypic spectrum is wide and not limited to… read more here.
Keywords: literature; new case; dependent epilepsy; case ... See more keywords
Ciliated cyst of the gallbladder: A new case and literature review
Sign Up to like & getrecommendations! Published in 2018 at "International Journal of Surgery Case Reports"
DOI: 10.1016/j.ijscr.2017.12.024
Abstract: Highlights • New entity that pathologists must differentiate from other cyst lesions.• Study epidemiological and pathological characteristics through a review of literature.• Surgical treatment. read more here.
Keywords: new case; gallbladder new; ciliated cyst; case ... See more keywords
Plasmodium ouropretensis, n. sp., a new case of non-erythrocytic species within lizard malaria parasites
Sign Up to like & getrecommendations! Published in 2021 at "Parasitology"
DOI: 10.1017/s0031182021000895
Abstract: Abstract Delimiting and describing Plasmodium species in reptiles remains a pressing problem in Haemosporida taxonomy. The few morphological characters used can overlap, and the significance of some life-history traits is not fully understood. Morphologically identical… read more here.
Keywords: new case; non erythrocytic; plasmodium ouropretensis; ouropretensis new ... See more keywords
New case of bilateral pheochromocytomas involving the homozygous TMEM127 mutation
Sign Up to like & getrecommendations! Published in 2018 at "Clinical Genetics"
DOI: 10.1111/cge.13361
Abstract: Our patient represents the third case of pheochromocytoma and mental retardation involving a homozygous region in 2p11.2 with a TMEM127 variant. This rare homozygous mutation does not seem to aggravate the clinical picture of the… read more here.
Keywords: new case; pheochromocytomas involving; bilateral pheochromocytomas; case ... See more keywords
A new case of 17p13.3p13.1 microduplication resulted from unbalanced translocation: clinical and molecular cytogenetic characterization
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Cytogenetics"
DOI: 10.1186/s13039-021-00562-1
Abstract: Copy number gain 17 p13.3p13.1 was detected by chromosomal microarray (CMA) in a girl with developmental/speech delay and facial dysmorphism. FISH studies made it possible to establish that the identified genomic imbalance is the unbalanced… read more here.
Keywords: new case; case 17p13; genomic imbalance; translocation ... See more keywords
A New Case With Cortical Malformation Caused by Biallelic Variants in LAMC3
Sign Up to like & getrecommendations! Published in 2022 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000000680
Abstract: Objective In this study, we report the case of a 24-year-old man with intellectual disability and childhood-onset seizures. This patient had newly identified biallelic variants in the laminin subunit gamma 3 (LAMC3) gene with unreported… read more here.
Keywords: malformation; cortical malformation; new case; variants lamc3 ... See more keywords
Leprosy among new child cases in China: Epidemiological and clinical analysis from 2011 to 2020
Sign Up to like & getrecommendations! Published in 2023 at "PLOS Neglected Tropical Diseases"
DOI: 10.1371/journal.pntd.0011092
Abstract: Background Leprosy, caused by Mycobacterium leprae infection, mainly affects skin and peripheral nerves and may further lead to disability and deformity if not treated timely. The new case detection rate of leprosy in children reflects… read more here.
Keywords: leprosy; new case; detection rate; case ... See more keywords
Intramedullary clear cell ependymoma of the lower thoracic spinal cord: report of a new case
Sign Up to like & getrecommendations! Published in 2020 at "Surgical Neurology International"
DOI: 10.25259/sni_215_2020
Abstract: Background: Clear cell ependymomas (CCEs) are a rare variant of tumors of the nervous system, the main location is the intracranial compartment. Special differential diagnosis should be done with oligodendrogliomas, neurocytoma, glioneurocytoma, astrocytoma, or metastatic… read more here.
Keywords: intramedullary clear; new case; clear cell; case ... See more keywords
A New Case of Herlyn–Werner–Wunderlich Syndrome: Uterine Didelphys with Unilateral Cervical Dysgenesis, Vaginal Agenesis, Cervical Distal Ureteral Remnant Fistula, Ureterocele, and Renal Agenesis in a Patient with Contralateral Multicystic Dysplastic Kidney
Sign Up to like & getrecommendations! Published in 2021 at "Diagnostics"
DOI: 10.3390/diagnostics12010083
Abstract: The aim of this study was to present a new case of congenital Herlyn–Werner–Wunderlich syndrome, a rare anomaly of the female reproductive tract, and review the related literature. A 12-year-old girl presented with severe dysmenorrhea… read more here.
Keywords: new case; agenesis; renal agenesis; herlyn werner ... See more keywords
A New Case and Comprehensive Review of the Ophthalmic Manifestations of 172 Individuals With Branchio-Oculo-Facial Syndrome.
Sign Up to like & getrecommendations! Published in 2022 at "Journal of pediatric ophthalmology and strabismus"
DOI: 10.3928/01913913-20220825-01
Abstract: PURPOSE To review the literature on branchio-oculo-facial syndrome and describe a new case. METHODS A girl presented with a de novo pathogenic mutation in the TFAP2A gene consistent with branchiooculo-facial syndrome. A systematic review was… read more here.
Keywords: comprehensive review; review; new case; facial syndrome ... See more keywords