Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial.

Background: Olipudase alfa is a recombinant human acid sphingomyelinase enzyme replacement therapy for non-central-nervous-system manifestations of acid sphingomyelinase deficiency (ASMD). The ASCEND randomized placebo-controlled trial in adults with ASMD demonstrated reductions in sphingomyelin storage, organomegaly, interstitial lung disease and impaired diffusion capacity of the lung (DL), during the first year of olipudase alfa treatment. In an ongoing open-label extension of the ASCEND trial, individuals in the placebo group crossed over to olipudase alfa, and those in the olipudase alfa group continued treatment.

Effect of Test Interface on Respiratory Muscle Activity and Pulmonary Function During Respiratory Testing in Healthy Adults: A Pilot Study.

Purpose: The mouthpiece is the standard interface for spirometry tests. Although the use of a mouthpiece can be challenging for patients with orofacial weakness, maintaining a proper seal with a facemask can be an issue for healthy individuals during forceful efforts. We compared respiratory muscle activity and tests using a mouthpiece and facemask in healthy adults to investigate whether they can be used interchangeably.

A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results.

Purpose: This trial aimed to assess the efficacy and safety of olipudase alfa enzyme replacement therapy for non-central nervous system manifestations of acid sphingomyelinase deficiency (ASMD) in adults.

Methods: A phase 2/3, 52 week, international, double-blind, placebo-controlled trial (ASCEND; NCT02004691/EudraCT 2015-000371-26) enrolled 36 adults with ASMD randomized 1:1 to receive olipudase alfa or placebo intravenously every 2 weeks with intrapatient dose escalation to 3 mg/kg. Primary efficacy endpoints were percent change from baseline to week 52 in percent predicted diffusing capacity of the lung for carbon monoxide and spleen volume (combined with splenomegaly-related score in the United States).

Prioritizing Harm.

In this study, we examined if a self-report of trait spite, the Spitefulness Scale, retains the same associations with dark personality traits in individuals with severe mental illness. We also examine if reports on the Spitefulness Scale are correlated with observed spiteful behavior in a game developed to offer opportunities for spite. One hundred twenty individuals clinically diagnosed with psychotic spectrum disorders and receiving inpatient treatment at a state hospital participated in this study and completed measures of personality.

Recovery in Schizophrenia: What Consumers Know and Do Not Know.

The recovery model has permeated mental health systems by leading to the development of new psychiatric interventions and services and the reconfiguration of traditional ones. There is growing evidence that these interventions and services confer benefits in clinical and recovery-oriented outcomes. Despite the seeming adoption of recovery by policy makers, the transformation of mental health systems into recovery-oriented systems has been fraught with challenges.

Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases.

Background: Acid sphingomyelinase deficiency (ASMD), [Niemann-Pick Disease Types A and B (NPD A and B)], is an inherited metabolic disorder resulting from deficiency of the lysosomal enzyme acid sphingomyelinase. Accumulation of sphingomyelin in hepatocytes, reticuloendothelial cells, and in some cases neurons, results in a progressive multisystem disease that encompasses a broad clinical spectrum of neurological and visceral involvement, including: infantile neurovisceral ASMD (NPD A) that is uniformly fatal by 3years of age; chronic neurovisceral ASMD (intermediate NPD A/B; NPD B variant) that has later symptom onset and slower neurological and visceral disease progression; and chronic visceral ASMD (NPD B) that lacks neurological symptoms but has significant disease-related morbidities in multiple organ systems. The purpose of this study was to characterize disease-related morbidities and causes of death in patients with the chronic visceral and chronic neurovisceral forms of ASMD.

Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B.

Niemann-Pick disease type B (NPDB) is a rare, inherited lysosomal storage disorder that occurs due to variants in the sphingomyelin phosphodiesterase 1 (SMPD1) gene and the resultant deficiency of acid sphingomyelinase (ASM) activity. While numerous variants causing NPDB have been described, only a small number have been studied in any detail. Herein, we describe the frequency of the p.

Asymmetric radical addition of TEMPO to titanium enolates.

A mild method for α-hydroxylation of N-acyl oxazolidinones by asymmetric radical addition of the 2,2,6,6-tetramethylpiperidine N-oxy (TEMPO) radical to titanium enolates was developed. The high diastereoselectivity and broad scope of the reaction show synthetic utility for the α-hydroxylation of substrates that are not tolerant to strongly basic conditions.

Mucopolysaccharidosis type II: identification of 30 novel mutations among Latin American patients.

In this study, 103 unrelated South-American patients with mucopolysaccharidosis type II (MPS II) were investigated aiming at the identification of iduronate-2-sulfatase (IDS) disease causing mutations and the possibility of some insights on the genotype-phenotype correlation The strategy used for genotyping involved the identification of the previously reported inversion/disruption of the IDS gene by PCR and screening for other mutations by PCR/SSCP. The exons with altered mobility on SSCP were sequenced, as well as all the exons of patients with no SSCP alteration. By using this strategy, we were able to find the pathogenic mutation in all patients.

Lifestyle illicit drug seizures: a routine ESI-LC-MS method for the identification of sildenafil and vardenafil.

For street samples suspected of containing the phosphodiesterase-5 inhibitors sildenafil (Viagra(®)) and/or vardenafil (Levitra(®)), including powders or adulterated herbal supplements, a chemical analysis is needed to provide confirmatory identification of these illegally procured substances. Sildenafil and vardenafil are structurally similar and it is difficult to differentiate between them, as previous mass spectrometric studies have shown the two drugs to produce similar fragmentation patterns. The use of tandem mass spectrometry can produce confirmatory data, but the technique requires a high level of technical expertise.

RECOVERY: International efforts at implementing and advancing the recovery model.

For almost a century the medical model has been the overarching framework for mental healthcare but since the 1980s it has been challenged by a consumer/survivor movement. Central to this revolution is the recovery model, which suggests that mental illness is only one of many facets of the life of an individual with mental illness, and that a full, meaningful life is possible despite illness (Anthony, 1993). The medical model emphasises the role of symptomatic improvements and functional status, and considers recovery as an 'outcome' or 'end state', at which point symptoms are remitted and community functioning is restored.

Latent structure of psychotic experiences in the general population.

Objective: There have been increasing pressures to adopt or incorporate dimensional representations in various sections of DSM-5 including the psychotic disorders section. Thus far, findings offered as evidence of a continuous distribution of psychosis are limited given their exclusive focus on the manifest rather than latent structure of psychotic experiences. The current study sought to determine whether or not psychotic experiences possess a taxonic or dimensional latent structure.

Immersing practitioners in the recovery model: an educational program evaluation.

The ascendance of the recovery movement in mental health care has led to the development and implementation of educational curricula for mental health providers to assist in mental health care system transformation efforts. The Medical College of Georgia (MCG) partnered with the Georgia State Department of Human Resources (DHR) to develop, implement, and evaluate such an educational curriculum for providers within an academic medical institution. This effort, entitled Project GREAT, led to the creation of a curriculum based on the SAMHSA-defined (2006) critical components of recovery.

Parenting stress in pediatric oncology populations.

The experience of childhood cancer can be one of the most severe stressors that parents endure. Studies using illness-specific measures of parental stress indicate that moderate-to-severe parenting stress is quite common in the first year of childhood cancer treatment, and as many as 5% to 10% of these parents go on to develop posttraumatic stress disorder. This review of the literature suggested that although parenting stress symptoms may be relatively transitory for most parents dealing with childhood cancer, the impact of these stress symptoms on parent and child functioning is substantive and worthy of therapeutic attention.

Recovery and systems transformation for schizophrenia.

The Recovery Movement, initiated in the 1990s by mental health consumer groups and leaders, has emerged as a major force in the mental health field. This movement has been gaining strength and promises to impact mental health service delivery through innovations in care that other models of care have not offered. Recent efforts to conceptualize and study recovery empirically have bolstered the movement from a scientific standpoint.

A clinical study of 77 patients with mucopolysaccharidosis type II.

Aim: This study aims to assess the clinical features of 77 South American patients (73 Brazilian) with mucopolysaccharidosis type II (MPS II).

Methods: Details of the patients and their disease manifestations were obtained from a review of medical records, interviews with the patients and/or their families, and physical examination of the patients.

Results: Mean birth weight was 3360 g, median age at onset of symptoms was 18 months and median age at diagnosis was 6 years.

Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI.

This paper presents data collected by a Brazilian center in a multinational multicenter observational study of patients with mucopolysaccharidosis type VI (MPS VI), aiming at determining the epidemiological, clinical, and biochemical profile of these patients. Twenty-eight south-American patients with MPS VI were evaluated through medical interview, physical exam, echocardiogram, electrocardiogram, ophthalmologic evaluation, quantification of glycosaminoglycans (GAGs) in urine, and measurement of the activity of N-acetylgalactosamine-4-sulfatase (ARSB) in leukocytes. 92.

Evaluation of reliability for urine mucopolysaccharidosis screening by dimethylmethylene blue and Berry spot tests.

Background: The mucopolysaccharidosis (MPS) are a group of inherited metabolic disorders resulting from the deficiency of the enzyme responsible for intralysosomal catabolism of glycosaminoglycans (GAGs). GAGs are progressively accumulated in multiple tissues and released into the corporal fluids. The first laboratory approximation to MPS diagnosis is the identification of an increased urinary GAG excretion.

[Phenylketonuria diagnosed during the neonatal period and breast feeding].

Background: Phenylketonuria (PKU) is due to of a defect in the phenylalanine hydroxylase gene (12q22-24.1) leading to hyperphenylalaninemia. Treatment consists in a low phenylalanine (Phe) diet.

Child and adolescent psychopathology: spiritual and religious perspectives.

This article addresses the relationship between children's religious beliefs and spiritual practices and the presence of psychopathology. Study of this subject represents a formidable task due to the complexity and diversity of the constructs involved, heterogeneity in religious beliefs and practices, and the difficulty in discriminating between the independent effects of religion and culture. Nevertheless, broad links between child psychopathology and spiritual/religious beliefs and practices are proposed.

Child and adolescent psychiatric emergencies: family psychodynamic issues.

Given the impact of the family on the etiology, identification, and treatment of child mental health problems, this article addresses the role of the family in psychiatric emergencies. This article covers relevant aspects of family evaluation in an emergency context, factors that determine the family's role in disposition, and planning of family considerations in several specific clinical emergencies. Improved understanding of the family's contribution leads to a more accurate diagnostic consideration and more appropriate disposition recommendations.