Free light chains as a reliable biomarker of intrathecal synthesis in the diagnosis of CNS inflammatory diseases.

OBJECTIVE: To address the diagnostic performances of cerebrospinal fluid (CSF) free light chains (FLC) measurements compared to oligoclonal bands (OCB) to support multiple sclerosis (MS) diagnosis. RESULTS: kFLC index showed the highest diagnostic accuracy to detect MS patients with the highest AUC compared to OCB, IgG index, IF kFLC R, kFLC H, λFLC index and IF λFLC. CONCLUSIONS: FLC indices are biomarkers of intrathecal Immunoglobulin synthesis and central nervous system (CNS) inflammation. kFLC index can discriminate between MS and other CNS inflammatory disorders, while λFLC index is less informative for MS but can play a role to support the diagnosis of other inflammatory CNS disorders.

Foot and Ankle Surgery for Chronic Nonhealing Wounds.

Chronic wounds often are the result of bone deformities, compounded by musculotendinous and ligamentous imbalance. Sensory neuropathy places patients at greater risk for acute wounds to develop into chronic wounds. Etiologies of these deforming forces include Charcot neuroarthropathy, trauma, and congenital and acquired neuromuscular disorders. Management of these deformities ranges from simple relief of pressure with soft inserts to bracing for mechanical instability. Correction of more complex deformities requires resection of bone, osteotomies, fusions, and external fixation. Tendon and ligament imbalance must be addressed at all levels of deformity. Postoperatively, patients must be re-evaluated for continuation of orthoses and bracing.

Hb Mozhaisk [ß92(F8)His→Arg; HBB: c.278A>G] as a De Novo Mutation in a Child of Mixed Ethnic Origins.

Approximately 150 variants described in the HbVar database have been found to be unstable and about 80.0% of these are on the ß-globin gene. We describe the case of a 3-year-old child who presented at the emergency room with fever and asthenia. Hematological data suggested severe hemolytic anemia. Sequencing of the ß-globin gene revealed the mutation HBB: c.278A>G at codon 92 in a heterozygous state, reported as Hb Mozhaisk in the HbVar database. Other family members did not have Hb Mozhaisk, thus, this variant is due to a de novo mutation. Because of the rarity of this globin variant, we believe it is important to report similar cases, to have a more complete phenotype description of the pathology and define an adequate reproductive risk for couples, considering the dominant inheritance pattern (hence an inheritance risk of 50.0%).