Central Sulcus Misfolding: Polarity Reversal of SSEP N20 Potential in "Layered" Polymicrogyria.

Paradoxical cortical potential polarity of the upper extremity somatosensory evoked potential (SSEP) has been reported in cases of polymicrogyria (PMG) syndrome. To date, the pathophysiological basis of this electrophysiological aberration remains under investigation. Here we present a case of mild PMG that showed "layered" microgyri in the left frontoparietal cortices affecting both hand and foot sensorimotor areas.

Site-dependent thenar compound muscle action potential: Comparison between surface and needle recordings.

Background: Within the thenar eminence, the median nerve innervates three muscles: abductor pollicis brevis (APB), flexor pollicis brevis (FPB), and opponens pollicis (OP). Of these muscles, APB was often considered as the sole contributor to the thenar compound muscle action potential (CMAP).

Objective: To evaluate subcomponents of the thenar CMAP from the median nerve innervated muscles.

A Comparison of Interside Asymmetries of Lower Extremity Somatosensory Evoked Potentials in Anesthetized Patients with Unilateral Lumbosacral Radiculopathy.

Study Design: Prospective cohort study.

Purpose: This study was to investigate interside asymmetries of three lower extremity somatosensory evoked potentials (SSEPs) in anesthetized patients with unilateral lumbosacral radiculopathy.

Overview Of Literature: Although interside asymmetry is an established criterion of abnormal SSEP, little is known which of the lower SSEPs is more sensitive in detecting interside asymmetry in anesthetized patients.

Intraoperative Loss of Tibialis Anterior Transcranial Electrical Motor Evoked Potentials Predicted Postoperative Footdrop.

Background: Footdrop secondary to L5 root injury is a rare complication associated with lumbar surgery. It is unclear whether intraoperative neuromonitoring can detect such an injury.

Case Description: A 54-year-old man who had had bilateral chronic L5 radiculopathy underwent L4-S1 lumbosacral decompression and fusion.

URAT1 mutations cause renal hypouricemia type 1 in Iraqi Jews.

Background: Hereditary renal hypouricemia may be complicated by nephrolithiasis or exercise-induced acute renal failure. Most patients described so far are of Japanese origin and carry the truncating mutation W258X in the uric acid transporter URAT1 encoded by SLC22A12. Recently, we described severe renal hypouricemia in Israeli patients with uric acid transporter GLUT9 (SLC2A9) loss-of-function mutations.

Truncating mutations in the chloride/proton ClC-5 antiporter gene in Seven Jewish Israeli families with Dent's 1 disease.

Dent's disease is an X-linked hereditary renal tubular disorder characterized by low-molecular-weight proteinuria (LMWP), hypercalciuria, nephrocalcinosis, nephrolithiasis, rickets and progressive renal failure. About 60% of patients have mutations in the CLCN5 gene (Dent 1), which encodes a kidney-specific chloride/proton antiporter, and 15% of patients have mutations in the OCRL1 gene (Dent 2). The aim of the study was to identify CLCN5 mutations in Jewish Israeli families with Dent's disease and to characterize the associated clinical syndromes.

Haptoglobin phenotype as a predictive factor of mortality in diabetic haemodialysis patients.

Introduction: The mortality rate in diabetic dialysis patients (DDPs) is over 15% per year, with the cause of death most often attributed to cardiovascular disease (CVD) or bacterial infection (sepsis). Identification of genetic markers predictive of early mortality would be useful in the evaluation of therapies for the reduction of mortality rate in this population. Haptoglobin (Hp) is a polymorphic protein which appears to confer differential susceptibility to bacterial infection and CVD.

A novel missense mutation in the sodium bicarbonate cotransporter (NBCe1/SLC4A4) causes proximal tubular acidosis and glaucoma through ion transport defects.

In humans and terrestrial vertebrates, the kidney controls systemic pH in part by absorbing filtered bicarbonate in the proximal tubule via an electrogenic Na+/HCO3- cotransporter (NBCe1/SLC4A4). Recently, human genetics revealed that NBCe1 is the major renal contributor to this process. Homozygous point mutations in NBCe1 cause proximal renal tubular acidosis (pRTA), glaucoma, and cataracts (Igarashi, T.

Role of haptoglobin phenotype in end-stage kidney disease.

Background: We recently reported that haptoglobin (Hp) phenotype 1-1 is protective against the development of nephropathy in normal creatinine diabetics. In the present study, we sought to determine if Hp phenotype also plays a role in renal deterioration by determining Hp phenotypes in a consecutive series of patients with chronic renal failure (CRF) in hemodialysis (HD) and predialysis clinics.

Methods: Three hundred and ninety-two patients on HD for less than 2 years and 182 predialysis patients (creatinine clearance time [CCT] <35 ml/min) were subjected to Hp phenotyping.

Search for peptidic "middle molecules" in uremic sera: isolation and chemical identification of fibrinogen fragments.

According to the "middle molecule" (MM) hypothesis, the uremic solutes ranging from 500 to 5,000 Da are insufficiently eliminated by conventional hemodialysis and may act as uremic toxins. However, because of the methodological difficulties of MM purification, their chemical analysis is complicated and the precise structure of these molecules remains obscure. In the present study, a new micro-preparative procedure including SDS electrophoresis and liquid chromatography was applied for isolation of MM peptides from uremic sera.