B4GALT1-congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature

A congenital disorder of glycosylation due to biallelic mutations in B4GALT1 has been previously reported in only three patients with two different mutations. Through homozygosity mapping followed by segregation analysis in an extended pedigree, we identified three additional patients homozygous for a novel mutation in B4GALT1, expanding the phenotypic spectrum of the disease. The patients showed a uniform clinical presentation with intellectual disability, marked pancytopenia requiring chronic management, and novel features including pulmonary hypertension and nephrotic syndrome. Notably, affected individuals exhibited a moderate elevation of Man3GlcNAc4Fuc1 on serum N-glycan analysis, yet two of the patients had a normal pattern of transferrin glycosylation in repeated analysis. The novel mutation is the third disease-causing variant described in B4GALT1, and the first one within its transmembrane domain.     

cIMPACT‐NOW update 6: new entity and diagnostic principle recommendations of the cIMPACT‐Utrecht meeting on future CNS tumor classification and grading

cIMPACT‐NOW (the Consortium to Inform Molecular and Practical Approaches to CNS Tumor Taxonomy) was established to evaluate and make practical recommendations on recent advances in the field of CNS tumor classification, particularly in light of the rapid progress in molecular insights into these neoplasms. For Round 2 of its deliberations, cIMPACT‐NOW Working Committee 3 was reconstituted and convened in Utrecht, The Netherlands, for a meeting designed to review putative new CNS tumor types in advance of any future World Health Organization meeting on CNS tumor classification. In preparatory activities for the meeting and at the actual meeting, a list of possible entities was assembled and each type and subtype debated. Working Committee 3 recommended that a substantial number of newly recognized types and subtypes should be considered for inclusion in future CNS tumor classifications. In addition, the group endorsed a number of principles—relating to classification categories, approaches to classification, nomenclature, and grading—that the group hopes will also inform the future classification of CNS neoplasms.     

Prevalence and characteristics of positional obstructive sleep apnea (POSA) in patients with severe OSA

Sleep and Breathing - We assessed the prevalence of positional patients (PPs) and the main predictors of positional dependency in severe obstructive sleep apnea (OSA). A simulated effect of...     

Portal vein arterialization: a salvage procedure for a totally de-arterialized liver. The Paul Brousse Hospital experience

Background

Portal vein arterialization (PVA) has been used as a salvage inflow technique when hepatic artery (HA) reconstruction is deemed impossible in liver transplantation (LT) or hepatopancreatobiliary (HPB) surgery. Outcomes and the management of possible complications have not been well described.

Methods

The present study analysed outcomes in 16 patients who underwent PVA during the period from February 2005 to January 2011 for HA thrombosis post-LT (n = 7) or after liver resection (n = 1), during curative resection for locally advanced HPB cancers (requiring HA interruption) (n = 7) and for HA resection without reconstruction (n = 1). In addition, a literature review was conducted.

Results

Nine patients were women. The median age of the patients was 58 years (range: 30–72 years). Recovery of intrahepatic arterial signals and PVA shunt patency were documented using Doppler ultrasound until the last follow-up (or until shunt thrombosis in some cases). Of five postoperative deaths, two occurred as a result of haemorrhagic shock, one as a result of liver ischaemia and one as a result of sepsis. The fifth patient died at home of unknown cause. Three patients (19%) had major bleeding related to portal hypertension (PHT). Of these, two underwent re-exploration and one underwent successful shunt embolization to control the bleeding. Four patients (25%) had early shunt thrombosis, two of whom underwent a second PVA. After a median follow-up of 13 months (range: 1–60 months), 10 patients (63%) remained alive with normal liver function and one submitted to retransplantation.

Conclusions

Portal vein arterialization results in acceptable rates of survival in relation to spontaneous outcomes in patients with completely de-arterialized livers. The management of complications (especially PHT) after the procedure is challenging. Portal vein arterialization may represent a salvage option or a bridge to liver retransplantation and thus may make curative resection in locally advanced HPB cancers with vascular involvement feasible.     

Wrist flexible heart pulse sensor integrated with a soft pump and a pneumatic balloon membrane

To monitor health and diagnose disease in the early stage, future healthcare standards will likely include the continuous monitoring of various vital data. One approach to collect such information is a wearable and flexible device, which detects information from the skin surface. An important dataset is heart pulse information. Herein a method to monitor the detailed pulse signal from a wrist stably and reliably is proposed. Specifically, a soft pneumatic balloon operated by a soft pump applies the appropriate pressure over a tactile sensor onto the radial artery of the wrist to detect detailed heart pulse waves. The soft pump, pneumatic balloon, and flexible tactile pressure sensor are characterized as a fundamental study. Additionally, a proof-of-concept of this integrated device platform is demonstrated by monitoring the heart pulse from a wrist with and without the soft pump functions.

Wearable and flexible heart pulse sensor is proposed to monitor the detailed pulse signal from a wrist stably and reliably by integrating a tactile pressure sensor and a soft pneumatic balloon operated by a soft pump.