Background
Superior medullary velum cerebral cavernous malformations pose a challenge in terms of appropriate microsurgical approach. Safe access to this deep location as well as preservation of ...surrounding anatomical structures, in particular the superior cerebellar peduncle just lateral to the superior medullary velum and the dentate nuclei, is paramount to achieve a good functional outcome.
Methods
Cadaveric dissections provide useful knowledge of the normal anatomy while tractography allows a better understanding of the individual anatomy in the presence of a lesion. The medial-tonsillar telovelar approach provides a feasible corridor for accessing superior velum cerebral cavernous malformations without compromising the fibres contained in the superior cerebellar peduncle. The major cerebellar efferents—cerebello-rubral, cerebello-thalamic and cerebello-vestibular tracts—and afferents, anterior spinocerebellar, tectocerebellar and trigeminocerebellar tracts, within the superior cerebellar peduncle are preserved, and the dentate nuclei are not affected.
Results and conclusion
A retraction-free exposure through this natural posterior fossa corridor allows the patient with the anatomical and functional subtract to make a good functional recovery by minimizing the risk of a superior cerebellar syndrome, ataxia, tremor and dysmetria; decomposition of movement in the ipsilateral extremities, nystagmus and hypotonia; or akinetic mutism, reduced or absent speech with onset within the first post-operative week.
Arhinia, or congenital absence of the nose, is an exceedingly rare anomaly caused by pathogenic variants in the gene SMCHD1 . Arhinia exhibits unique reconstructive challenges, as the midface is ...deficient in skeletal and soft tissue structures. The authors present 2 related patients with arhinia who harbor a novel SMCHD1 gene variant and illustrate their surgical midface and nasal construction. Targeted sequencing was carried out on DNA samples from the 2 affected patients, 1 anosmic and 1 healthy parent, to identify variants in exons 3 to 13 of SMCHD1 . The affected patients and anosmic parent were found to have a novel SMCHD1 gene variant p.E473V. A staged surgical approach was applied. First, both patients underwent a LeFort II osteotomy and distraction osteogenesis to improve the projection of the midfacial segment, followed by tissue expansion of the forehead, and nasal construction with a forehead flap that was placed over a costochondral framework derived from rib cartilage. The novel gene variant could guide future investigations on genetic pathways and molecular processes that underly the physiological and pathologic development of the nose. Further investigations on the variable expressivity ranging from anosmia to arhinia could improve clinical genetic screens for risk stratification of individuals with anosmia on passing on arhinia to their children. Due to the exceptional rarity and complexity of congenital arhinia, most surgical approaches are developed on a single-case basis. This case series, albeit limited to 2 cases, is the largest pedigree of such cases in the literature. It highlights key principles of a staged approach to nasal construction in arhinia and discusses nuances and improvements learned between both patients. It subsequently offers an optimized guide to this surgical strategy.
Introduction The aim of this study was to report 36-month longitudinal changes using the North Star Ambulatory Assessment (NSAA) in ambulant patients affected by Duchenne muscular dystrophy amenable ...to skip exons 44, 45, 51 or 53. Materials and methods We included 101 patients, 34 had deletions amenable to skip exon 44, 25 exon 45, 19 exon 51, and 28 exon 53, not recruited in any ongoing clinical trials. Five patients were counted to skip exon 51 and 53 since they had a single deletion of exon 52. Results The difference between subgroups (skip 44, 45, 51 and 53) was significant at 12 (p = 0.043), 24 (p = 0.005) and 36 months (pless than or equal to0.001). Discussion Mutations amenable to skip exons 53 and 51 had lower baseline values and more negative changes than the other subgroups while those amenable to skip exon 44 had higher scores both at baseline and at follow up. Conclusion Our results confirm different progression of disease in subgroups of patients with deletions amenable to skip different exons. This information is relevant as current long term clinical trials are using the NSAA in these subgroups of mutations.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
This paper describes an ultralow-power switched opamp-based integrated analog-to-digital converter (ADC) for cardiac pacemakers applications. The ADC consumption, measured on 10 chip samples and ...averaged, is 8.18 /spl mu/W (stand-by value: 1 nW) for the analog part and of 9.71 /spl mu/W (5 nW) for the digital one, using a supply battery of 2.8 V. The converter has a resolution of 10-b, its typical operating clock frequency is 32 KHz (2.9 KS/s sampling rate) and is able to reach the same resolution at 2 V (0.7 KS/s sampling rate), with a dissipation of 1 /spl mu/W and 1.3 /spl mu/W for analog and digital part, respectively.
Heterogeneity in the phenotypic presentation of autism spectrum disorder (ASD) is apparent in the profile and the severity of sensory features. Here, we applied factor mixture modelling (FMM) to test ...a multidimensional factor model of sensory processing in ASD. We aimed to identify homogeneous sensory subgroups in ASD that differ intrinsically in their severity along continuous factor scores. We also investigated sensory subgroups in relation to clinical variables: sex, age, IQ, social-communication symptoms, restricted and repetitive behaviours, adaptive functioning and symptoms of anxiety and attention-deficit/hyperactivity disorder.
Three hundred thirty-two children and adults with ASD between the ages of 6 and 30 years with IQs varying between 40 and 148 were included. First, three different confirmatory factor models were fit to the 38 items of the Short Sensory Profile (SSP). Then, latent class models (with two-to-six subgroups) were evaluated. The best performing factor model, the 7-factor structure, was subsequently used in two FMMs that varied in the number of subgroups: a two-subgroup, seven-factor model and a three-subgroup and seven-factor model.
The 'three-subgroup/seven-factor' FMM was superior to all other models based on different fit criteria. Identified subgroups differed in sensory severity from severe, moderate to low. Accounting for the potential confounding effects of age and IQ, participants in these sensory subgroups had different levels of social-communicative symptoms, restricted and repetitive behaviours, adaptive functioning skills and symptoms of inattention and anxiety.
Results were derived using a single parent-report measure of sensory features, the SSP, which limits the generalisability of findings.
Sensory features can be best described by three homogeneous sensory subgroups that differ in sensory severity gradients along seven continuous factor scores. Identified sensory subgroups were further differentiated by the severity of core and co-occurring symptoms, and level of adaptive functioning, providing novel evidence on the associated clinical correlates of sensory subgroups. These sensory subgroups provide a platform to further interrogate the neurobiological and genetic correlates of altered sensory processing in ASD.
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![[PP.09.15] CHRONIC HEMODIAL...](http://api.summon.serialssolutions.com/2.0.0/image/issn/XR4PS5YY4K/0263-6352/small "[PP.09.15] CHRONIC HEMODIALYSIS CONTRIBUTES TO INCREASED ARTERIAL STIFFNESS AND TO IMPAIRED DIASTOLIC FUNCTION IN PATIENTS WITH END-STAGE RENAL DISEASE AFTER SIXTY MONTHS OF TREATMENT")
