Results 31 to 40 of about 714 (155)

Further delineation of phenotype and genotype of Kenny–Caffey syndrome type 2 (phenotype and genotype of KCS type 2)

open access: yesMolecular Genetics &Genomic Medicine, Volume 12, Issue 4, April 2024.
We provided detailed characteristics of eight individuals with genetically confirmed KCS2, which has been the largest cohort of KCS2 so far in China. We present the first genetically confirmed instance of father‐to‐daughter transmission of KCS2, which demonstrates an equal sex ratio of affected individuals.
Xuefei Chen, Chaochun Zou
wiley   +1 more source

A Precocious Cerebellar Ataxia and Frequent Fever Episodes in a 16‐Month‐Old Infant Revealing Ataxia‐Telangiectasia Syndrome

open access: yesCase Reports in Immunology, Volume 2013, Issue 1, 2013., 2013
Ataxia‐telangiectasia (AT) is the most frequent progressive cerebellar ataxia in infancy and childhood. Immunodeficiency which includes both cellular and humoral arms has variable severity. Since the clinical presentation is extremely variable, a high clinical suspicion will allow an early diagnosis.
Luigi Nespoli   +6 more
wiley   +1 more source

Viral diseases affecting the skin

open access: yesDermatological Reviews, Volume 5, Issue 1, February 2024.
Abstract This chapter delves into the complex world of viral exanthems, focusing on their diagnostic challenges and distinctive features, with updated presentations and pearls. From Roseola Infantum's atypical fever‐rash presentation to Rubeola's resurgence, it underscores the importance of prompt diagnosis.
Chelsea M. Gerlicki
wiley   +1 more source

Possible Role of Human Herpesvirus 6 as a Trigger of Autoimmune Disease

open access: yesThe Scientific World Journal, Volume 2013, Issue 1, 2013., 2013
Human herpesvirus 6 (HHV‐6) infection is common and has a worldwide distribution. Recently, HHV‐6A and HHV‐6B have been reclassified into two distinct species based on different biological features (genetic, antigenic, and cell tropism) and disease associations.
Francesco Broccolo   +4 more
wiley   +1 more source

Linfadenitis supurada por BCG: Reporte de un caso Supurative lymphadenitis caused by BCG: A case report

open access: yesRevista Cubana de Hematología, Inmunología y Hemoterapia, 2005
La infección micobacteriana diseminada después de la vacunación por bacilo Calmette-Guerin (BCG) es un trastorno muy raro que ocurre principalmente en pacientes con inmunodeficiencia. Se describe un caso donde se observó una reacción adversa inducida por
Isabel Martínez Grau   +4 more
doaj  

Human herpesvirus-6 pneumonitis in a patient with follicular lymphoma following immunochemotherapy with rituximab

open access: yesInfection and Drug Resistance, 2018
Saeko Kuwahara-Ota, Yoshiaki Chinen, Yoshimi Mizuno, Tomoko Takimoto-Shimomura, Yayoi Matsumura-Kimoto, Kazuna Tanba, Taku Tsukamoto, Shinsuke Mizutani, Yuji Shimura, Tsutomu Kobayashi, Shigeo Horiike, Junya Kuroda Department of Medicine, Division of ...
Kuwahara-Ota S   +11 more
doaj  

Prevalence of infectious diseases in preterm infants: a 2-year follow-up from the Japan Environment and Children's Study. [PDF]

open access: yesSci Rep, 2022
Tamura K   +5 more
europepmc   +1 more source

Family Herpesviridae and neuroinfections: current status and research in progress. [PDF]

open access: yesMem Inst Oswaldo Cruz, 2022
Carneiro VCS, Pereira JG, de Paula VS.
europepmc   +1 more source

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