Chemical Composition, Antimicrobial, Nitric Oxide Inhibition and Cytotoxic Activity of Essential Oils from Zanthoxylum acanthopodium DC. Leaves and Stems from Vietnam.

This study was aimed to investigate the chemical composition and biological activities of leaf and stem essential oils of Zanthoxylum acanthopodium DC. from Vietnam. Their chemical composition was analyzed by GC/MS.

ROHHAD syndrome without rapid-onset obesity: A diagnosis challenge.

Background: ROHHAD syndrome (Rapid-onset Obesity with Hypothalamic dysfunction, Hypoventilation and Autonomic Dysregulation) is rare. Rapid-onset morbid obesity is usually the first recognizable sign of this syndrome, however a subset of patients develop ROHHAD syndrome without obesity. The prevalence of this entity is currently unknown.

Alkaloids from with inhibitory effect on nitric oxide production lipopolysaccharide-stimulated in RAW264.7 macrophages.

The chemical study of the acidic extract of leaves led to the isolation of one new alkaloid, vietnamine A () and eight known alkaloids (,)-2N-norberbamunine (), grisabine (), -dimethylgrisabine (), dauricine (), neothalibrine (), vietnamine (), xylopine (), and argentinine () by NMR and MS and comparing with the data reported in the literature. Compounds - were evaluated for inhibitory NO production in RAW 264.7 macrophages, LPS-stimulated.

Neurocognition in Congenital Central Hypoventilation Syndrome: influence of genotype and ventilation method.

Background: Congenital Central Hypoventilation Syndrome (CCHS) is characterized by central hypoventilation due to abnormal autonomic control of breathing and global dysautonomia. Patients harbour heterozygous PHOX-2B gene mutations which are polyalanine repeats of various lengths in most of the cases. A few previous studies have reported learning difficulties and neuropsychological disorders in patients with CCHS.

Guidelines for diagnosis and management of congenital central hypoventilation syndrome.

Background: Congenital Central Hypoventilation Syndrome (CCHS) is a rare condition characterized by an alveolar hypoventilation due to a deficient autonomic central control of ventilation and a global autonomic dysfunction. Paired-like homeobox 2B (PHOX2B) mutations are found in most of the patients with CCHS. In recent years, the condition has evolved from a life-threatening neonatal onset disorder to include broader and milder clinical presentations, affecting children, adults and families.

ERS statement on obstructive sleep disordered breathing in 1- to 23-month-old children.

The present statement was produced by a European Respiratory Society Task Force to summarise the evidence and current practice on the diagnosis and management of obstructive sleep disordered breathing (SDB) in children aged 1-23 months. A systematic literature search was completed and 159 articles were summarised to answer clinically relevant questions. SDB is suspected when symptoms or abnormalities related to upper airway obstruction are identified.

[Spanish patients with central hypoventilation syndrome included in the European Registry. The 2015 data].

Introduction: Congenital Central Hypoventilation Syndrome (CCHS) is a very rare genetic disease. In 2012 the European Central Hypoventilation Syndrome (EuCHS) Consortium created an online patient registry in order to improve care.

Aim: To determine the characteristics and outcomes of Spanish patients with CCHS, and detect clinical areas for improvement.

Obstructive sleep disordered breathing in 2- to 18-year-old children: diagnosis and management.

This document summarises the conclusions of a European Respiratory Society Task Force on the diagnosis and management of obstructive sleep disordered breathing (SDB) in childhood and refers to children aged 2-18 years. Prospective cohort studies describing the natural history of SDB or randomised, double-blind, placebo-controlled trials regarding its management are scarce. Selected evidence (362 articles) can be consolidated into seven management steps.

Introducing a core curriculum for respiratory sleep practitioners.

The background and purpose of the HERMES (Harmonising Education in Respiratory Medicine for European Specialists) initiative has been discussed at length in previous articles [1-3]. This article aims to provide more detailed and specific insight into the process and methodology of the Sleep HERMES Task Force in developing a core curriculum in respiratory sleep medicine.

Abnormal auditory pathways in PHOX2B mutation positive congenital central hypoventilation syndrome.

Background: Congenital central hypoventilation syndrome (CCHS) is a rare disease characterized by severe central hypoventilation due to abnormal autonomic control of breathing. The PHOX2B gene, mutations of which define the disease, is expressed in a group of nuclei located in brainstem areas. Pathways controlling breathing and auditory pathways traverse very similar anatomic structures.

Proceedings of the fourth international conference on central hypoventilation.

Central hypoventilation syndromes (CHS) are rare diseases of central autonomic respiratory control associated with autonomous nervous dysfunction. Severe central hypoventilation is the hallmark and the most life-threatening feature. CHS is a group of not-fully defined disorders.

Intermittent hyperglycemia due to autonomic nervous system dysfunction: a new feature in patients with congenital central hypoventilation syndrome.

Objective: To analyze glycemic profile in children with congenital central hypoventilation syndrome, which is characterized by autonomic nervous system dysfunction.

Study Design: We carried out a university hospital-based observational study. Participants included 14 patients assessed from 2007 to 2009 with a median age of 7.

Chemosensitivity recovery in Ondine's curse syndrome under treatment with desogestrel.

Congenital central hypoventilation syndrome (CCHS), or Ondine's curse syndrome, is a rare genetic disorder associated with mutations of the PHOX2B gene. It is characterized by sleep-related life-threatening hypoventilation that requires mechanical ventilation. The ventilatory response to hypercapnia and hypoxia is absent or dramatically reduced.

An official ATS clinical policy statement: Congenital central hypoventilation syndrome: genetic basis, diagnosis, and management.

Background: Congenital central hypoventilation syndrome (CCHS) is characterized by alveolar hypoventilation and autonomic dysregulation.

Purpose: (1) To demonstrate the importance of PHOX2B testing in diagnosing and treating patients with CCHS, (2) to summarize recent advances in understanding how mutations in the PHOX2B gene lead to the CCHS phenotype, and (3) to provide an update on recommendations for diagnosis and treatment of patients with CCHS.

Methods: Committee members were invited on the basis of their expertise in CCHS and asked to review the current state of the science by independently completing literature searches.

Chiari type I malformation causing central apnoeas in a 4-month-old boy.

Apnoea is a rare but well-known clinical presentation of the Chiari type I malformation. It may be either obstructive or central in nature, and has been described in children, adolescents and adults. Here, we report a 4-month-old infant who presented with frequent central sleep apnoeas leading to the diagnosis of a Chiari type I malformation.

Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndrome.

Late Onset Central Hypoventilation Syndrome associated with Hypothalamic Dysfunction (LO-CHS/HD) is a distinct entity among the clinical and genetic heterogeneous group of patients with late onset central hypoventilation. Here we report a series of 13 patients with LO-CHS/HD. Rapid onset obesity is the first symptom of HD followed by hypoventilation with a mean delay of 18 mos.

PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome.

Rationale: Late-onset central hypoventilation syndrome (LO-CHS) is a rare disorder that may manifest as early as infancy or as late as during adulthood. The potential overlap of LO-CHS with congenital CHS is under debate, even though both disorders can result from heterozygous PHOX2B gene mutations.

Objectives: To characterize the PHOX2B status in a series of 25 patients with LO-CHS referred from 3 months of age to adulthood.

[Ondine syndrome or central congenital hypoventilation syndrome].

Congenital central hypoventilation syndrome (CCHS) is a rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200,000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients.

Pediatric disorders with autonomic dysfunction: what role for PHOX2B?

Hirschsprung disease, neuroblastomas, and congenital central hypoventilation syndrome can occur in combination, and familial cases have been reported in all three conditions. This suggests variable expression of a single genetic abnormality as the common cause to these neural crest disorders. Because the PHOX2B gene is pivotal in the development of most relays of the autonomic nervous system, including all autonomic neural crest derivatives, it was considered a candidate gene for the above conditions.

PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome.

The Phox2b gene is necessary for autonomic nervous-system development. Phox2b-/- mice die in utero with absent autonomic nervous system circuits, since autonomic nervous system neurons either fail to form or degenerate. We first identified the Phox2b human ortholog, PHOX2B, as the gene underlying congenital central hypoventilation syndrome (CCHS, or Ondine curse), with an autosomal dominant mode of inheritance and de novo mutation at the first generation.

The French Congenital Central Hypoventilation Syndrome Registry: general data, phenotype, and genotype.

Objective: To analyze the main clinical features, genetic mutations, and outcomes of patients of the French Congenital Central Hypoventilation Syndrome (CCHS) Registry.

Design: A country-wide cohort established throughout a long-term multicenter effort.

Patients: Seventy French patients with CCHS (29 male patients and 41 female patients).

Relevance of a portable spirometer for detection of small airways obstruction.

While portable spirometers are increasingly used, little attention has been paid to test their validity for measurement of flows in small airways. The aim of this study was to compare the Spirotel portable spirometer to a laboratory spirometer (Jeager PFT), with regard to accuracy in measuring forced expiratory flows, and more specifically those influenced by small airways (FEF(25-75)). Fifty-nine children (mean age, 12 years; range, 7-17), were studied at baseline and after a bronchodilator inhalation.