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Objective Carotid artery stenting for heavily calcified lesions is challenging for interventionists. A calcium burden is associated with suboptimal dilatation, periprocedural complications, high rates of restenosis, and poor outcomes. We describe the first report of 2 cases of successful carotid artery stenting for heavily calcified lesions using a scoring balloon. Case Presentation The patients were both aged 75 years, 1 male and 1 female, who had experienced ipsilateral stroke prior to the procedures. They had dense calcifications at the lesions, stenosis rates of 95% (near occlusion) and 86% according to the North American Symptomatic Carotid Endarterectomy Trial criteria, and calcification arcs of 270° and 360°, respectively. Considering the heavy calcification, predilation with scoring balloons (NSE PTA balloon; Nipro, Osaka, Japan) at the rated burst pressure was performed in both cases. Sufficient dilatation was achieved, followed by carotid stent deployment (Precise Pro RX; Cordis, Miami Lakes, FL, USA). After postdilatation, the stenosis rates decreased to 21% and 23%, respectively. Although 1 patient experienced prolonged bradycardia and hypotension, they were well managed with anticholinergic and vasoconstrictive agents. Both patients remained asymptomatic. Conclusion Carotid artery stenting using a scoring balloon obtained acceptable improvements in severe stenosis with heavily calcified lesions. This method could be a useful option for the revascularization of heavily calcified lesions.

Introduction In carotid artery stenting (CAS), a guiding catheter (GC) placement to the appropriate position is the first step of the successful procedure. In normal settings, GC is navigated along with stable support of guidewire and inner‐catheter which are sent distally to external carotid artery. In cases of low‐positioned common carotid artery (CCA) lesions, however, safe GC placement without touching lesions is often difficult. Herein, we report the technique of safe GC navigation of “no‐touching” to the low‐position CCA plaque using Newton‐shaped stiff inner‐catheter. Methods We reviewed CAS procedures with low‐positioned CCA lesions using “no‐touching” technique: a balloon guiding catheter (BGC) was coaxially advanced in combination with 4‐French Newton‐shaped stiff inner‐catheter (Newton‐T®, Medikit, Tokyo, Japan). With its advantage of shape and stiffness buffering the kickback force with support of lesser curvature of aortic arch, BGCs were navigated to the appropriate position without touching to the plaques. Results The technique were applied in 5 cases (age: 73‐85 years old, 4 males, 4 left‐sided lesions) among the 37 consequent CAS cases. GC fixation by GooseNeck snare was used concurrently in 2 cases. BGCs were successfully navigated without touching plaques in all cases. CAS procedures were subsequently undergone and no complication was observed. Conclusion GC navigation using “no‐touching” technique with Newton‐T catheter was safe and useful in CAS procedures for low‐positioned CCA lesions.

3-Hydroxyisobutyryl-CoA hydrolase (HIBCH) deficiency is an autosomal recessive disorder characterized by episodes of ketoacidosis and a Leigh-like basal ganglia disease, without high concentrations of pyruvate and lactate in the cerebrospinal fluid. Only 4 cases of HIBCH deficiency have been reported. However, clinical–biochemical correlation in HIBCH deficiency by determining the detailed residual enzyme activities has not yet been elucidated. Here, we report a case of two Japanese siblings with HIBCH deficiency carrying a new homozygous missense mutation (c.287C > A, [p.A96D]) at the substrate-binding site. A transfection study using HIBCH expression vectors harboring wild type or 4 reported mutations, including the newly identified mutation (p.A96D, p.Y122C, p.G317E, and p.K74Lfs*13), revealed a correlation between residual HIBCH activities and the severity of the disease. All HIBCH mutants, except p.K74Lfs*13, showed residual enzyme activity and only the patient with p.K74Lfs*13 had congenital anomalies. p.G317E showed only low enzyme activity (~3%) of that of wild-type HIBCH. Although p.A96D had approximately 7 times higher enzyme activity than p.G317E, patients with p.A96D died during childhood. These findings are essential for clinical management, genetic counseling, and specific meal and concomitant drug considerations as part of the treatment for patients with HIBCH deficiency.

Squamous cell carcinoma antigens 1 and 2 (SCCA1 and 2, SERPIN B3 and B4), members of the ovalbumin serpin (ov-serpin)/clade B serpin family, were originally discovered as tumor-specific antigens and are used as tumor markers for various kinds of squamous cell carcinomas. Recently, our understanding of the underlying mechanisms of how SCCA1/2 enhance tumor growth has greatly increased. Moreover, it has been shown that SCCA1/2 are involved in the pathogenesis of several inflammatory diseases: asthma, psoriasis, and atopic dermatitis (AD). IL-22 and IL-17, signature cytokines of type 17 inflammation, as well as IL-4 and IL-13, signature cytokines of type 2 inflammation, both of which are positively correlated with the pathogenesis of psoriasis and allergic diseases, respectively, can induce expression of SCCA1/2 in airway epithelial cells and/or keratinocytes, leading to high expression of SCCA1/2 in these diseases. Based on these findings, several trials have been performed to examine the potential of applying SCCA1/2 to biomarkers for these diseases. The findings show that SCCA2 is useful to aid diagnosis, estimate clinical severity and disease type, and assess responses to treatment in psoriasis and AD. These results suggest that SCCA2 has emerged as a novel biomarker for skin inflammatory diseases. [ABSTRACT FROM AUTHOR]

Background Short-chain enoyl-CoA hydratase—ECHS1—catalyses many metabolic pathways, including mitochondrial short-chain fatty acid β-oxidation and branched-chain amino acid catabolic pathways; however, the metabolic products essential for the diagnosis of ECHS1 deficiency have not yet been determined. The objective of this report is to characterise ECHS1 and a mild form of its deficiency biochemically, and to determine the candidate metabolic product that can be efficiently used for neonatal diagnosis. Methods We conducted a detailed clinical, molecular genetics, biochemical and metabolic analysis of sibling patients with ECHS1 deficiency. Moreover, we purified human ECHS1, and determined the substrate specificity of ECHS1 for five substrates via different metabolic pathways. Results Human ECHS1 catalyses the hydration of five substrates via different metabolic pathways, with the highest specificity for crotonyl-CoA and the lowest specificity for tiglyl-CoA. The patients had relatively high (~7%) residual ECHS1 enzyme activity for crotonyl-CoA and methacrylyl-CoA caused by the compound heterozygous mutations (c.176A>G, ( p.N59S) and c.413C>T, (p.A138V)) with normal mitochondrial complex I-IV activities. Affected patients excrete large amounts of N-acetyl-S-(2-carboxypropyl)cysteine, a metabolite of methacrylyl-CoA. Conclusions Laboratory data and clinical features demonstrated that the patients have a mild form of ECHS1 deficiency harbouring defective valine catabolic and β-oxidation pathways. N-Acetyl-S-(2-carboxypropyl) cysteine level was markedly high in the urine of the patients, and therefore, N-acetyl-S-(2-carboxypropyl) cysteine was regarded as a candidate metabolite for the diagnosis of ECHS1 deficiency. This metabolite is not part of current routine metabolic screening protocols, and its inclusion, therefore, holds immense potential in accurate diagnosis. [ABSTRACT FROM AUTHOR]