[Syndrome of transient headache and neurologic deficits with cerebrospinal fluid lymphocytosis – two cases and review].

Here we describe two cases of HaNDL (Headache with Neurological Deficits and cerebrospinal fluid Lymphocytosis). A thirty year old man with episodes of headache with lateralizing symptoms and confusion and a 41 year old man with headache, aphasia and right hemiparesis. Symptoms resolved completely in both patients.

Multi-nucleotide de novo Mutations in Humans.

Mutation of the DNA molecule is one of the most fundamental processes in biology. In this study, we use 283 parent-offspring trios to estimate the rate of mutation for both single nucleotide variants (SNVs) and short length variants (indels) in humans and examine the mutation process. We found 17812 SNVs, corresponding to a mutation rate of 1.

Variants with large effects on blood lipids and the role of cholesterol and triglycerides in coronary disease.

Sequence variants affecting blood lipids and coronary artery disease (CAD) may enhance understanding of the atherogenicity of lipid fractions. Using a large resource of whole-genome sequence data, we examined rare and low-frequency variants for association with non-HDL cholesterol, HDL cholesterol, LDL cholesterol, and triglycerides in up to 119,146 Icelanders. We discovered 13 variants with large effects (within ANGPTL3, APOB, ABCA1, NR1H3, APOA1, LIPC, CETP, LDLR, and APOC1) and replicated 14 variants.

HLA class II sequence variants influence tuberculosis risk in populations of European ancestry.

Mycobacterium tuberculosis infections cause 9 million new tuberculosis cases and 1.5 million deaths annually. To identify variants conferring risk of tuberculosis, we tested 28.