Search Results for: syndrome

October 14, 2024October 14, 2024

Cohen syndrome: Can early-onset recurrent infections and hypotonia provide early diagnosis and intervention for intellectual disability?

Autism Literature

Publication date: Oct 13, 2024 Cohen syndrome is a rare disease associated with neurodevelopmental disorders, especially intellectual disability (ID), neutropenia and recurrent infections are consistently reported in cases. Neutropenia is ... Read more

October 13, 2024October 13, 2024

Psychiatric Comorbidities in Women with Complete Androgen Insensitivity Syndrome or Müllerian Aplasia/Agenesis.

Major Depressive Disorder Literature

Publication date: Oct 11, 2024 Understanding mental health issues facing individuals with disorders/differences of sex development (DSD) is crucial for optimizing evidence-based practices in this population. To compare the prevalence ... Read more

October 13, 2024October 13, 2024

Autism Spectrum Disorder Symptom Profiles in Fragile X Syndrome, Angelman Syndrome, Tuberous Sclerosis Complex and Neurofibromatosis Type 1.

Autism Literature

Publication date: Oct 12, 2024 Studying Autism Spectrum Disorder (ASD) heterogeneity in biologically homogeneous samples may increase our knowledge of ASD etiology. Fragile X syndrome (FXS), Angelman syndrome (AS), Tuberous ... Read more

October 13, 2024October 13, 2024

Baseline level of interleukin-6 is associated with the risk of acute coronary syndrome development in SARS-CoV-2 infection.

Coronavirus Literature

Publication date: Oct 12, 2024 Acute coronary syndrome (ACS) is frequently reported in patients with coronavirus disease 2019 (COVID-19). Cytokine storm induced by interleukin-6 (IL-6) has been suggested to potentially ... Read more

October 13, 2024October 13, 2024

Sleep correlates of behavior functioning in Cornelia de Lange syndrome.

Autism Literature

Publication date: Nov 01, 2024 Pathogenic variants in the cohesin genes, NIPBL and SMC1A, both cause Cornelia de Lange syndrome (CdLS), a rare genetic disorder associated with developmental delay and ... Read more

October 13, 2024October 13, 2024

GPC4 truncating variant associated with Keipert syndrome and lacrimal punctal agenesis.

Autism Literature

Publication date: Nov 01, 2024 Lacrimal punctal agenesis is an extremely rare condition with an unclear genetic basis. Here, we report a 3-year-old male patient harboring a hemizygous variant in ... Read more

October 12, 2024October 12, 2024

NK Cell and Monocyte Dysfunction in Multisystem Inflammatory Syndrome in Children.

Coronavirus Literature

Publication date: Oct 11, 2024 Multisystem inflammatory syndrome in children (MIS-C) is a severe complication of SARS-CoV-2 infection characterized by multiorgan involvement and inflammation. Testing of cellular function ex vivo ... Read more

October 12, 2024October 12, 2024

A review of intravenous immunoglobulin in the treatment of neuroimmune conditions, acute COVID-19 infection, and post-acute sequelae of COVID-19 Syndrome.

Coronavirus Literature

Publication date: Oct 08, 2024 Intravenous immunoglobulin (IVIG) is an immunomodulatory therapy that has been studied in several neuroimmune conditions, such as Guillain-BarrcE9 Syndrome, chronic inflammatory demyelinating polyneuropathy, multifocal motor ... Read more

October 12, 2024October 12, 2024

A review of intravenous immunoglobulin in the treatment of neuroimmune conditions, acute COVID-19 infection, and post-acute sequelae of COVID-19 Syndrome.

Coronavirus Literature

October 11, 2024October 12, 2024

Novel Compound Heterozygous Variants in the FAS Gene Lead to Fetal Onset of Autoimmune Lymphoproliferative Syndrome (ALPS).

Coronavirus Literature

Publication date: Oct 10, 2024 FAS gene defects lead to autoimmune lymphoproliferative syndrome (ALPS), which is often inherited in an autosomal dominant and rarely in an autosomal recessive manner. We ... Read more