OpenMed/multicare-articles huggingface dataset:
Genetics of Paroxysmal Dyskinesia: Novel Variants Corroborate the Role of KCNA1 in Paroxysmal Dyskinesia and Highlight the Diverse Phenotypic Spectrum of KCNA1- and SLC2A1-Related Disorders
Authors: Josua Kegele, Johanna Krüger, Mahmoud Koko, Lara Lange, Ana Victoria Marco Hernandez, Francisco Martinez, Alexander Münchau, Holger Lerche, Stephan Lauxmann
Journal: Front Neurol (2021)
Keywords: kcna1, slc2a1, paroxysmal dyskinesia, paroxysmal exercise induced dyskinesia, paroxysmal kinesiogenic dyskinesia

Paroxysmal dyskinesias (PxD) are rare movement disorders with characteristic episodes of involuntary mixed hyperkinetic movements. Scientific efforts and technical advances in molecular genetics have led to the discovery of a variety of genes associated with PxD; however, clinical and genetic information of rarely affected genes or infrequent variants is often limited. In our case series, we present two individuals with PxD including one with classical paroxysmal kinesigenic dyskinesia, who carry new likely pathogenic de novo variants in KCNA1 (p.Gly396Val and p.Gly396Arg). The gene has only recently been discovered to be causative for familial paroxysmal kinesigenic dyskinesia. We also provide genetic evidence for pathogenicity of two newly identified disease-causing variants in SLC2A1 (p.Met96Thr and p.Leu231Pro) leading to paroxysmal exercise-induced dyskinesia. Since clinical information of carriers of variants in known disease-causing genes is often scarce, we encourage to share clinical data of individuals with rare or novel (likely) pathogenic variants to improve disease understanding.
Recurrence of mitotically active cellular fibroma of the ovary
Authors: Dario Bucella, Jean-Frédéric Limbosch, Frédéric Buxant, Philippe Simon, Isabelle Fayt, Vincent Anaf, Jean-Christophe Noël
Journal: Obstet Gynecol Int (2009)
MeSH terms: Case Reports

Background. 10% of ovarian fibromatous tumours typically exhibit increased cellularity, mitotic activity, and less frequently nuclear atypia. Therefore, the classification within the group of fibromatous tumours may represent some difficulties, thus, one or several of these features should appear. Case. We introduce the clinical and pathologic features based on one case of recurrence of a mitotically active cellular ovarian fibroma (MACF) in the pararectal fossa. This recurrence took place six years after primary surgery. Macroscopically, the tumour was firm, fibrous, well delimited, yellow-white without gross necrosis. On microscopic examination, it was composed of a densely cellular proliferation of fibrolastic-like cells with bland nuclear features and arranged in a fascicular pattern. There was no sign of significant atypia or necrosis. Conclusion. Recently, this case is the first report of a recurrence of MACF, following primary surgery with no tumoral rupture or surgical difficulty. The clinical outcome of ovarian cellular fibromas (CFs) and MACFs is typically uneventful. This case, however, strongly suggests maintaining a long-term clinical follow-up even though the principal tumour was surgically treated without tumour rupture or in the absence of adherence or any surgical difficulty.
Double Morphology: Tertiary Syphilis and Acquired Immunodeficiency Syndrome-A Rare Association
Authors: R M Ngwanya, B Kakande, N P Khumalo
Journal: Case Rep Dermatol Med (2017)
MeSH terms: Case Reports

Background:
Human immunodeficiency virus (HIV) and Treponema pallidum coinfection is relatively common and accounts for about 25% of primary and secondary syphilis. Tertiary syphilis in HIV-uninfected and HIV-infected patients is vanishingly rare. This is most likely due to early treatment of cases of primary and secondary syphilis. There is rapid progression to tertiary syphilis in HIV-infected patients.
Case presentation:
A 49-year-old woman diagnosed with HIV Type 1 infection and cluster of differentiation 4 (CD4) count of 482 presented with a four-week history of multiple crusted plaques, nodules, and ulcers on her face, arms, and abdomen. Her past history revealed red painful eyes six months prior to this presentation. She had generalized lymphadenopathy, no alopecia, and no palmar-plantar or mucosal lesions. There were no features suggestive of secondary syphilis. Neurological examination was normal. Her rapid plasma reagin test was positive to a titer of 64. She was treated with Penicillin G 20 mu IVI daily for 2 weeks.
Conclusion:
Penicillin remains the treatment of choice in syphilitic infected HIV negative and HIV-infected individuals. In neurosyphilis, the dose of Penicillin GIVI is 18-24 mu daily for 10-14 days. This case report demonstrates the importance of excluding syphilis in any HIV-infected patient.