Trivial Andreev Band Mimicking Topological Bulk Gap Reopening in the Nonlocal Conductance of Long Rashba Nanowires.

We consider a one-dimensional Rashba nanowire in which multiple Andreev bound states in the bulk of the nanowire form an Andreev band. We show that, under certain circumstances, this trivial Andreev band can produce an apparent closing and reopening signature of the bulk band gap in the nonlocal conductance of the nanowire. Furthermore, we show that the existence of the trivial bulk reopening signature in nonlocal conductance is essentially unaffected by the additional presence of trivial zero-bias peaks in the local conductance at either end of the nanowire.

Non-Majorana modes in diluted spin chains proximitized to a superconductor.

Spin chains proximitized with superconducting condensates have emerged as one of the most promising platforms for the realization of Majorana modes. Here, we craft diluted spin chains atom by atom following a seminal theoretical proposal suggesting indirect coupling mechanisms as a viable route to trigger topological superconductivity. Starting from single adatoms hosting deep Shiba states, we use the highly anisotropic Fermi surface of the substrate to create spin chains characterized by different magnetic configurations along distinct crystallographic directions.

Hermansky-Pudlak syndrome: Mutation update.

Hermansky-Pudlak syndrome (HPS) is a group of 10 autosomal recessive multisystem disorders, each defined by the deficiency of a specific gene. HPS-associated genes encode components of four ubiquitously expressed protein complexes: Adaptor protein-3 (AP-3) and biogenesis of lysosome-related organelles complex-1 (BLOC-1) through -3. All individuals with HPS exhibit albinism and a bleeding diathesis; additional features occur depending on the defective protein complex.

The hidden identity of faces: a case of lifelong prosopagnosia.

Background: Not being able to recognize a person's face is a highly debilitating condition from which people with developmental prosopagnosia (DP) suffer their entire life. Here we describe the case of J, a 30 year old woman who reports being unable to recognize her parents, her husband, or herself in the mirror.

Case Presentation: We set out to assess the severity of J's prosopagnosia using tests with unfamiliar as well as familiar faces and investigated whether impaired configural processing explains her deficit.

Neurologic involvement in patients with atypical Chediak-Higashi disease.

Objective: To delineate the developmental and progressive neurodegenerative features in 9 young adults with the atypical form of Chediak-Higashi disease (CHD) enrolled in a natural history study.

Methods: Patients with atypical clinical features, but diagnostically confirmed CHD by standard evaluation of blood smears and molecular genotyping, underwent complete neurologic evaluation, MRI of the brain, electrophysiologic examination, and neuropsychological testing. Fibroblasts were collected to investigate the cellular phenotype and correlation with the clinical presentation.

Neurologic involvement in patients with atypical Chediak-Higashi disease.

Objective: To delineate the developmental and progressive neurodegenerative features in 9 young adults with the atypical form of Chediak-Higashi disease (CHD) enrolled in a natural history study.

Methods: Patients with atypical clinical features, but diagnostically confirmed CHD by standard evaluation of blood smears and molecular genotyping, underwent complete neurologic evaluation, MRI of the brain, electrophysiologic examination, and neuropsychological testing. Fibroblasts were collected to investigate the cellular phenotype and correlation with the clinical presentation.

Opportunities and Challenges in the Design and Analysis of Biomass Supply Chains.

The biomass supply chain is one of the most critical elements of large-scale bioenergy production and in many cases a key barrier for procuring initial funding for new developments on specific energy crops. Most productions rely on complex transforming chains linked to feed and food markets. The term 'supply chain' covers various aspects from cultivation and harvesting of the biomass, to treatment, transportation, and storage.

In vitro functional correction of Hermansky-Pudlak Syndrome type-1 by lentiviral-mediated gene transfer.

Hermansky-Pudlak syndrome (HPS) is a genetic disorder characterized by oculocutaneous albinism, bleeding tendency and susceptibility to pulmonary fibrosis. No curative therapy is available. Genetic correction directed to the lungs, bone marrow and/or gastro-intestinal tract might provide alternative forms of treatment for the diseases multi-systemic complications.

Rapid ultrastructural detection of success or failure after bone marrow transplantation in the Chediak-Higashi syndrome.

The present study has used electron microscopic techniques to rapidly detect the success or failure of bone marrow transplantation in three patients with the Chediak-Higashi Syndrome (CHS). The most rapid procedure was the whole mount technique to determine the presence or absence of dense bodies, which are inherently electron-opaque, serotonin-containing storage organelles in platelets. Dense bodies were present in normal numbers in platelets from two patients with successful transplantation and absent in thrombocytes from another patient in whom the transplant had failed.

A BLOC-1 mutation screen reveals a novel BLOC1S3 mutation in Hermansky-Pudlak Syndrome type 8.

Hermansky-Pudlak Syndrome (HPS) is a genetically heterogeneous disorder of lysosome-related organelle biogenesis and is characterized by oculocutaneous albinism and a bleeding diathesis. Over the past decade, we screened 250 patients with HPS-like symptoms for mutations in the genes responsible for HPS subtypes 1-6. We identified 38 individuals with no functional mutations, and therefore, we analyzed all eight genes encoding the biogenesis of lysosome-related organelles complex-1 (BLOC-1) proteins in these individuals.

Clinical, molecular, and cellular features of non-Puerto Rican Hermansky-Pudlak syndrome patients of Hispanic descent.

Hermansky-Pudlak syndrome (HPS) is an autosomal recessive condition characterized by a bleeding diathesis and hypopigmentation of the skin, hair, and eyes. Some HPS patients develop other complications such as granulomatous colitis and/or fatal pulmonary fibrosis. Eight genes have been associated with this condition, resulting in subtypes HPS-1 through HPS-8.

A BLOC-1 mutation screen reveals that PLDN is mutated in Hermansky-Pudlak Syndrome type 9.

Hermansky-Pudlak Syndrome (HPS) is an autosomal-recessive condition characterized by oculocutaneous albinism and a bleeding diathesis due to absent platelet delta granules. HPS is a genetically heterogeneous disorder of intracellular vesicle biogenesis. We first screened all our patients with HPS-like symptoms for mutations in the genes responsible for HPS-1 through HPS-6 and found no functional mutations in 38 individuals.

Pirfenidone for the treatment of Hermansky-Pudlak syndrome pulmonary fibrosis.

Hermansky-Pudlak syndrome (HPS) is a rare disorder of oculocutaneous albinism, platelet dysfunction, and in some subtypes, fatal pulmonary fibrosis. There is no effective treatment for the pulmonary fibrosis except lung transplantation, but an initial trial using pirfenidone, an anti-fibrotic agent, showed promising results. The current, randomized, placebo-controlled, prospective, double-blind trial investigated the safety and efficacy of pirfenidone for mild to moderate HPS-1 and 4 pulmonary fibrosis.

Biomass supply logistics and infrastructure.

Feedstock supply system encompasses numerous unit operations necessary to move lignocellulosic feedstock from the place where it is produced (in the field or on the stump) to the start of the conversion process (reactor throat) of the biorefinery. These unit operations, which include collection, storage, preprocessing, handling, and transportation, represent one of the largest technical and logistics challenges to the emerging lignocellulosic biorefining industry. This chapter briefly reviews the methods of estimating the quantities of biomass, followed by harvesting and collection processes based on current practices on handling wet and dry forage materials.

Alveolar macrophage dysregulation in Hermansky-Pudlak syndrome type 1.

Rationale: Individuals with Hermansky-Pudlak syndrome type 1 (HPS-1), an autosomal recessive disorder characterized by defective biogenesis of lysosome-related organelles, develop an accelerated form of progressive fibrotic lung disease. The etiology of pulmonary fibrosis associated with HPS-1 is unknown.

Objectives: To investigate the potential pathogenesis of pulmonary fibrosis in HPS-1, lung cells and proteins from individuals with HPS-1 were studied.

Hermansky-Pudlak syndrome type 1 in patients of Indian descent.

Hermansky-Pudlak syndrome (HPS) develops from defects in the biogenesis and/or function of lysosome-related organelles essential to membrane and protein trafficking. Of the eight known human subtypes, only HPS-1 and HPS-4 develop pulmonary fibrosis in addition to the general clinical manifestations of oculocutaneous albinism and bleeding diathesis. We identified HPS-1 in three unrelated patients from different regions of India, who presented with iris transillumination, pale fundi, hypopigmentation, nystagmus, decreased visual acuity, and a bleeding diathesis.

Hermansky-Pudlak syndrome in two African-American brothers.

Hermansky-Pudlak syndrome (HPS) is an autosomal recessive disorder characterized by oculocutaneous albinism, a bleeding disorder, and, in some patients, granulomatous colitis and/or a fatal pulmonary fibrosis. There are eight different subtypes of HPS, each due to mutations in one of eight different genes, whose functions are thought to involve intracellular vesicle formation and trafficking. HPS has been identified in patients of nearly all ethnic groups, though it has primarily been associated with patients of Puerto Rican, Northern European, Japanese and Israeli descent.

Changing the conversation about prostate cancer among African Americans: results of formative research.

Objectives: To understand obstacles to and opportunities for improving prostate cancer communication to and within African American communities.

Design: Researchers conducted interviews with 19 community leaders and five focus groups with healthy men and survivors. The team also conducted process evaluations of two outreach projects in which survivors spoke to African American men about prostate cancer and screening.

Analysis of ocular hypopigmentation in Rab38cht/cht mice.

Purpose: To characterize the ocular phenotype resulting from mutation of Rab38, a candidate gene for Hermansky-Pudlak syndrome.

Methods: Chocolate mice (cht, Rab38(cht/cht)) and control heterozygous (Rab38(cht/)(+)) and wild-type mice were examined clinically, histologically, ultrastructurally, and electrophysiologically. Mice homozygous for both the Rab38(cht) and the Tyrp1(b) alleles were similarly examined.

Modeling the electrophoresis of peptides and proteins: improvements in the "bead method" to include ion relaxation and "finite size effects".

A bead model methodology developed in our lab (Xin et al. J. Phys.

Structural analysis of wheat stems.

Design and development of improved harvesting, preprocessing, and bulk handling systems for biomass requires knowledge of the biomechanical properties and structural characteristics of crop residue. Structural analysis of wheat stem cross-sections was performed using the theory of composites and finite element analysis techniques. Representative geometries of the stem's structural components including the hypoderm, ground tissue, and vascular bundles were established using microscopy techniques.