Tag: genetics

1. Cross-generational transmission between bipolar disorder and schizophrenia was predominantly based on genetics, while transmission between bipolar disorder and major depression was equally influenced by genetics and child-rearing practices. Evidence Rating Level: 2 (Good) Cross-generational transmission of bipolar disorder is less well-known, with specific gaps related to whether parental bipolar disorder...

1. Whole exome sequencing (WES) provided diagnosis for a subset of patients with chronic kidney disease (CKD). 2. Identification of certain mutations, via WES, changed the clinical management of CKD patients. Evidence Rating Level: 2 (Good) Study Rundown: Over the past 10 years, we have seen significant advances in genetics technology that...

1. In this prospective analysis, prenatal exposure to environmental pollution was associated with decreased telomere length in newborns. 2. The link between prenatal pollution and telomere length demonstrated a non-linear dose-response relationship, and displayed the greatest effect in the second trimester. Evidence Rating Level: 2 (Good) Study Rundown: Telomeres are short stretches...

1. In a cohort of children under the age of 12 months admitted to the intensive care unit (ICU) without a clear diagnosis, rapid, targeted genetic testing revealed a diagnosis in about one-third of patients. 2. Genetic diagnoses significantly impacted the care of those children identified as having a genetic...

1. Pedigrees of families with infantile hemangioma (IH) were consistent with 2 distinct modes of transmission: autosomal dominant transmission and maternal inheritance, both with incomplete penetrance. 2. Current discomfort from IH lesions was reported to be greater in familial cases compared to that of sporadic cases. Study Rundown: Infantile hemangiomas (IHs),...

1. In a pre-clinical study of post-mortem brains of Alzheimer’s disease (AD) patients, there was an isolated depletion of neuronal Breast Cancer Type 1 Susceptibility Protein (BRCA1), a DNA repair protein, compared to controls. 2. BRCA1-knock out mice models demonstrated memory and spatial learning deficits as well as decreased long-term...

1. This 5-year review of California’s 3-step model for newborn screening for cystic fibrosis (CF) demonstrated that it is highly sensitive and effective. 2. The median age to referral to a CF center for infants that tested positive at step 2 was 18 days, and for infants who were identified...

1. A total of 14.6% of patients with triple negative breast cancers were found to have deleterious mutations in cancer susceptibility genes. 2. Of these patients with mutations, 11.2% were of the BRCA1/2 genes while 3.7% of patients had mutations in 15 other susceptibility genes. Evidence Rating Level: 3 (Average) Study Rundown:...

In this section, we highlight the key high-impact studies, updates, and analyses published in medicine during the past week. An Interferon-free Antiviral Regimen for HCV after Liver Transplantation More than 40% of patients on the liver transplant waiting list are infected with the Hepatitis C Virus (HCV) and as many as...

Image: PD 1. HLA-DRB1*07:01 and HLA-DQA1*02:01 are strongly associated with liver injury among patients with HER2+ primary breast cancer taking lapatinib. Evidence Rating Level: 1 (Excellent) Study Rundown: Lapatinib, a dual HER2/neu and EGFR inhibitor, is used as part of combination therapy for advanced or metastatic HER2-expressing breast cancer. Though previously well-tolerated,...