Nitrogen sorption as a tool for the characterisation of polysaccharide aerogels

Supercritically dried aerogels of several polysaccharides (chitin, chitosan, alginate, alginic acid, k- carrageenan, and agar) have been characterised by physisorption ofN2. Surface areas as high as 570m2 g−1 have been measured. The nature of the functional groups of the polysaccharide significantly influences the adsorption of N2 on the surface of the aerogel. The net enthalpy of adsorption increases with the polarity of the surface groups of the polymer, in the order chitin < agar≤chitosan < carrageenan < alginic acid∼alginate. The surface area and the mesopore distribution of the aerogels depend both on the dispersion of the parent hydrogel and on the behaviour of each polymer in the drying treatment. Aerogels which retain the dispersion of the parent hydrogel are mainly macroporous (pores larger than 50 nm) while materials liable to shrink upon solvent exchange form mesoporous structures

A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder

Mutations in the kinesin family member 1A (KIF1A) gene have been associated with a wide range of phenotypes including recessive mutations causing hereditary sensory neuropathy and hereditary spastic paraplegia and de novo dominant mutations causing a more complex neurological disorder affecting both the central and peripheral nervous system. We identified by exome sequencing a de novo dominant missense variant, (c.38G>A, p.R13H), within an ATP binding site of the kinesin motor domain in a patient manifesting a complex phenotype characterized by autism spectrum disorder (ASD), spastic paraplegia and axonal neuropathy. The presence of ASD distinguishes this case from previously reported patients with de novo dominant mutations in KIF1A

Magnetic Resonance Imaging of the Hips of Runners Before and After Their First Marathon Run: Effect of Training for and Completing a Marathon

Background: No studies have focused on magnetic resonance imaging (MRI) of the hips of marathoners, despite the popularity and injury risks of marathon running. / Purpose: To understand the effect of preparing for and completing a marathon run (42 km) on runners’ hip joints by comparing MRI findings before and after their first marathon. / Study Design: Case-control study; Level of evidence, 3. / Methods: A total of 28 healthy adults (14 males, 14 females; mean age, 32.4 years) were recruited after registering for their first marathon. They underwent 3-T MRI of both hips at 16 weeks before (time point 1) and 2 weeks after the marathon (time point 2). After the first MRI, 21 runners completed the standardized, 4 month--long training program and the marathon; 7 runners did not complete the training or the marathon. Specialist musculoskeletal radiologists reported and graded the hip joint structures using validated scoring systems. Participants completed the Hip disability and Osteoarthritis Outcome Score (HOOS) at both imaging time points. / Results: At time point 1, MRI abnormalities of the hip joint were seen in 90% of participants and were located in at least 1 of these areas: labrum (29%), articular cartilage (7%), subchondral bone marrow (14%), tendons (17%), ligaments (14%), and muscles (31% had moderate muscle atrophy). At time point 2, only 2 of the 42 hips showed new findings: a small area of mild bone marrow edema appearance (nonweightbearing area of the hip and not attributable to running). There was no significant difference in HOOS between the 2 time points. Only 1 participant did not finish the training because of hip symptoms and thus did not run the marathon; however, symptoms resolved before the MRI at time point 2. Six other participants discontinued their training because of non–hip related issues: a knee injury, skin disease, a family bereavement, Achilles tendon injury, illness unrelated to training, and a foot injury unrelated to training. / Conclusion: Runners who completed a 4-month beginner training program before their first marathon run, plus the race itself, showed no hip damage on 3-T MRI scans

Relationship Between Orthodontic and Articulatory Impairments in Adolosecents

Različita su istraživanja pokazala da je broj izgovornih poremećaja veći u populaciji s ortodontskim anomalijama nego u osoba bez njih. Odnos između anatomskih struktura u orofacijalnoj regiji i izgovornih kompenzacijskih mehanizama u osoba s ortodontskim anomalijama zanimljiv je i s teoretskoga i s praktičnoga stajališta. U ovom je istraživanju na uzorku od 282 srednjoškolca (203 - 72% djevojaka i 79 - 28% dječaka) u dobi od 15 do 18 godina istražen odnos između ortodontskih i izgovornih poremećaja. Procjenom ortodontskog i izgovornoga statusa , koju je učinilo dvoje specijalista, svaki za svoje područje, dobiveni su sljedeći postotci ortodontskih anomalija: primarna kompresija - 43,6%, otvoreni zagriz - 11,0%, pokrovni zagriz - 8,5% , progenijski kompleks - 5,7%, križni zagriz - 3,5%, diastema medijana - 0,0%. Također je nađeno 41,4% ispitanika s kratkim frenulumom linguae i 25,2% s gotskim nepcem. Izgovorni su poremećaji registrirani u sljedećim postotcima: sigmatizam - 64,9%, rotacizam- 36,5% i lambdacizam - 39,0%. Ukupno 78% ispitanika imalo je ortodontske anomalije, a 72% izgovorne poremećaje, a njih je 52% imalo kombinirane ortodontske i izgovorne poremećaje. Samo je 9% ispitanika bilo s urednim ortodontskim i izgovornim statusom. Također je pokazano da su sve tri kategorije izgovornih poremećaja najviše povezane s primarnom kompresijom (oko 30%), praćeno s kratkim frenulumom linguae (oko 30%) i gotskim nepcem (od 15 do 20%). Također je očito da postoji 19% ispitanika koji imaju ortodontsku anomaliju ali i normalni izgovorni status, što potvrđuje da su oni razvili djelotvorne kompenzacijske izgovorne mehanizme. S druge strane, postoji 13% ortodontski normalnih ispitanika koji imaju izgovorne poremećaje, uzrokovane nekim drugim razlozima a ne ortodontskim statusom. Iako postoji jaka povezanost između ortodontskih i izgovornih poremećaja, moguće je zaključiti da njihov odnos nije neposredan ta da se drugi psiholingvistički, razvojni, neurogeni i ostali parametri moraju uzeti u razmatranje u daljnjem objašnjenju toga odnosa.Various investigations have shows that the number of articulatory impairments is greater in a population with orthodontic anomalies than in eugnathic subjects. The relationship between anatomic structures in the orofacial region and articulatory compensatory mechanisms in persons with orthodontic anomalies is interesing from the theoretical and practical point of view. In the present investigation on a sample of 282 high school adolescents (203 - 72% male and 79 - 28% female) aged from 15 to 18 years the relationship between orthodontic and articulatory impairments was investigated. Assessment of the orthodontic and articulatory status, judged two specialists in the fields, showed the following percentages of orthodontic anomalies : primary compression -43,6%, open bite - 11,0%, closed bite -8,5%, progenia complex -5,7%, cross bite 3,5%, diastema media - 0,0%, short frenulum linguae - 41,5%, gothic palate -25,2% and tthe following percentages of ariculatory impairments: sigmatism - 64,9%, rhotacism - 36,5% and lambdacism - 39,9%. 78% of the subjects had orthodontic anomalies and 72% had articulatory impairments while 52% had combined orthodontic and articulatory impairments and only 9% were eugnathic subjects with normal articulatory status. It was also show that all three categories of articulatory impairments are mostly combined with primary compression (approximately 30%) accompanied by short frenulum linguae (approximately 30%) and gothic palate (approximately 15 to 20%). It is also obvious that there are 19% of subjetcts with orthodontic anomalies who have normal articulatory status, meaning that they developed efficient compensatory mechanisms in articulation and also that there are 13% of eugnathic subjects who have articulatory imapirments, consequently, caused by some other reasons and not by the orthodontic status. Although there is a strong connection between orthodontica and articulatory characteristics it can be concluded that the relationship between them is not straight forward and that other psycholinguistic, developmental, neurogenic and other parameters should be taken into consideration in further explication of that relationship

Electronic and magnetic properties of Fe clusters inside finite zigzag single-wall carbon nanotubes

Density functional calculations of the electronic structure of the Fe12 cluster encapsulated inside finite singlewall zigzag carbon nanotubes of indices (11,0) and (10,0) have been performed. Several Fe12 isomers have been considered, including elongated shape isomers aimed to fit well inside the nanotubes, and the icosahedral minimum energy structure. We analyze the structural and magnetic properties of the combined systems, and how those properties change compared to the isolated systems. A strong ferromagnetic coupling between the Fe atoms occurs both for the free and the encapsulated Fe12 clusters, but there is a small reduction (3–7.4μB) of the spin magnetic moment of the encapsulated clusters with respect to that of the free ones (μ = 38μB). The reduction of the magnetic moment is mostly due to the internal redistribution of the spin charges in the iron cluster. In contrast, the spin magnetic moment of the carbon nanotubes, which is zero for the empty tubes, becomes nonzero (1–3μB) because of the interaction with the encapsulated cluster. We have also studied the encapsulation of atomic Fe and the growth of small Fen clusters (n = 2, 4, 8) encapsulated in a short (10,0) tube. The results suggest that the growth of nanowires formed by distorted tetrahedral Fe4 units will be favorable in (10,0) nanotubes and nanotubes of similar diameter

SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome

OBJECTIVE: To describe the genetic and clinical features of a simplex patient with distal hereditary motor neuropathy (dHMN) and lower limb spasticity (Silver-like syndrome) due to a mutation in the sigma nonopioid intracellular receptor-1 gene (SIGMAR1) and review the phenotypic spectrum of mutations in this gene. METHODS: We used whole-exome sequencing to investigate the proband. The variants of interest were investigated for segregation in the family using Sanger sequencing. Subsequently, a larger cohort of 16 unrelated dHMN patients was specifically screened for SIGMAR1 mutations. RESULTS: In the proband, we identified a homozygous missense variant (c.194T>A, p.Leu65Gln) in exon 2 of SIGMAR1 as the probable causative mutation. Pathogenicity is supported by evolutionary conservation, in silico analyses, and the strong phenotypic similarities with previously reported cases carrying coding sequence mutations in SIGMAR1. No other mutations were identified in 16 additional patients with dHMN. CONCLUSIONS: We suggest that coding sequence mutations in SIGMAR1 present clinically with a combination of dHMN and pyramidal tract signs, with or without spasticity, in the lower limbs. Preferential involvement of extensor muscles of the upper limbs may be a distinctive feature of the disease. These observations should be confirmed in future studies

Producing valid statistics when legislation, culture, and medical practices differ for births at or before the threshold of survival: Report of a European workshop

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β2‑adrenergic receptor functionality and genotype in two different models of chronic inflammatory disease: Liver cirrhosis and osteoarthritis

The present study was designed to investigate the functional status of β2 adrenoceptors (β2AR) in two models of chronic inflammatory disease: liver cirrhosis (LC) and osteoarthritis (OA). The β2AR gene contains three single nucleotide polymorphisms at amino acid positions 16, 27 and 164. The aim of the present study was to investigate the potential influence of lymphocyte β2AR receptor functionality and genotype in LC and OA patients. Blood samples from cirrhotic patients (n=52, hepatic venous pressure gradient 13±4 mmHg, CHILD 7±2 and MELD 11±4 scores), OA patients (n=30, 84% Kellgren‑Lawrence severity 4 grade, 14% knee replacement joint) and healthy volunteers as control group (n=26) were analyzed. Peripheral blood mononuclear cells (PBMC) were isolated from whole blood and basal and isoproterenol induced adenylate cyclase activity (isoproterenol stimulus from 10‑9 to 10‑4 mM), and β2AR allelic variants (rs1042713, rs1042714, rs1800888) were determined. β2AR functionality was decreased in the two different models of chronic inflammatory disease studied, OA (50% vs. control) and LC (85% vs. control). In these patients, the strength of the β2AR response to adrenergic stimulation was very limited. Adrenergic modulation of PBMC function through the β2AR stimulus is decreased in chronic inflammatory processes including LC and OA, suggesting that the adrenergic system may be important in the development of these processes

OPRM1 influence on and effectiveness of an individualized treatment plan for prescription opioid use disorder patients

Screening for opioid use disorder should be considered in chronic non-cancer pain (CNCP) patients with long-term use of opioids. The aim of our study was to assess the effectiveness of an individualized treatment plan (ITP) for prescription opioid dependence that included screening of pharmacogenetic markers. An observational prospective study was performed using prescription opioid-dependent CNCP outpatients (n = 88). Patients were divided into nonresponders, responders, or high responders according to their response to the ITP. Genotyping of OPRM1 (A118G), OPRD1 (T921C), COMT (G472A), ABCB1 (C3435T), and ARRB2 (C8622T) was performed by real-time PCR. Our ITP achieved a significant reduction of the morphine equivalent daily dose (MEDD) in 64% of responders, including 33% of high responders. Nonopioid medication or buprenorphine use was significantly higher at final versus basal visit. 118-AA OPRM1 patients required significantly lower MEDD at basal and final visits. Our ITP showed effectiveness and security in reducing MEDD in opioid-dependent patients, with good conversion to buprenorphine that was more pronounced in 118-AA OPRM1 patients