Search results for "Adolescent"
showing 10 items of 6718 documents
New syndrome: Autosomal dominant microcephaly and radio-ulnar synostosis
1994
To date, the combination of microcephaly and radio-ulnar synostosis has not been recognized as a distinct clinical and genetic entity. We report on 4 familial cases with this previously undescribed combination of defects, showing autosomal dominant inheritance (Fig. 1). © 1994 Wiley-Liss, Inc.
Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A.
2015
The dual-specificity tyrosine-phosphorylation-regulated kinase 1A (DYRK1A) gene, located on chromosome 21q22.13 within the Down syndrome critical region, has been implicated in syndromic intellectual disability associated with Down syndrome and autism. DYRK1A has a critical role in brain growth and development primarily by regulating cell proliferation, neurogenesis, neuronal plasticity and survival. Several patients have been reported with chromosome 21 aberrations such as partial monosomy, involving multiple genes including DYRK1A. In addition, seven other individuals have been described with chromosomal rearrangements, intragenic deletions or truncating mutations that disrupt specificall…
Collagen ultrastructure in ruptured cruciate ligaments
1992
The ultrastructure of collagen fibrils was investigated in normal (n 39) and ruptured (n 23) human anterior cruciate ligaments. The normal ligament had a complex three-dimensional structure. Collagen fibrils predominantly had a unidirectional course with parallel arrangement and a mean diameter of 75 (20-185) nm. Four days after anterior cruciate ligament rupture, the mean fibril diameter was increased; it later decreased, probably due to synthesis of young, thin 30-40 nm fibrils. Interfibrillar dysplastic collagen fibrils were detected in the extracellular matrix of ruptured ligaments. They were more frequently found later than 3 days after rupture and were seen also at a distance of 2-3 c…
Endoscopic Neurosurgery and Endoscope-assisted Microneurosurgery for the Treatment of Intracranial Cysts
1998
Objective Different endoscopic techniques have been introduced into neurosurgery, but accepted terminology and definitions are still missing. We propose a terminology based on whether the endoscope is used alone or in conjunction with an operating microscope and on whether the route of surgical manipulations is through or outside the endoscope. Accordingly, procedures are categorized into endoscopic neurosurgery (EN), endoscope-assisted microneurosurgery (EAM), and endoscope-controlled microneurosurgery (ECM). Methods We treated 36 patients with intracranial arachnoid cysts (ACs) and intraventricular cysts endoscopically. The patients ranged in age from 4 months to 69 years (mean age, 31 yr…
Endoscope-assisted Brain Surgery: Part 2—Analysis of 380 Procedures
1998
Objectives Microsurgical techniques and instruments that help to reduce intraoperative retraction of normal intracranial neuronal and vascular structures contribute to improved postoperative results. To achieve sufficient control of the operating field without retraction of neurovascular components, the resection of dura and bone edges is frequently required, which, on the other hand, increases operating time and operation-related trauma. The use of endoscopes may help to reduce retraction and, at the same time, may help to avoid additional dura and bone resection. The aim of this study is to describe the principles on which the technique of endoscope-assisted brain surgery is based, to giv…
The influence of surgical experience on the rate of intraoperative aneurysm repture and its impact on aneurysm treatment outcome.
2001
Abstract BACKGROUND The influence of surgical experience on the result of aneurysm surgery remains unclear. To determine the impact of surgical experience we considered the occurrence of intraoperative aneurysm rupture (IAR) during microneurosurgery for intracranial aneurysms as an objective factor that could be evaluated. METHODS A retrospective study was performed on 379 consecutive patients with 490 cerebral aneurysms operated upon from 1989 to 1995. RESULTS IAR occurred in 6.7% of aneurysms and 8.7% of patients. There was a direct inverse relationship between the annual caseload of the surgeon and the risk of IAR. New neurological deficits (NND) occurred in 21% of patients with IAR, whi…
Development and external validation of a clinical prediction model for functional impairment after intracranial tumor surgery
2021
OBJECTIVE Decision-making for intracranial tumor surgery requires balancing the oncological benefit against the risk for resection-related impairment. Risk estimates are commonly based on subjective experience and generalized numbers from the literature, but even experienced surgeons overestimate functional outcome after surgery. Today, there is no reliable and objective way to preoperatively predict an individual patient’s risk of experiencing any functional impairment. METHODS The authors developed a prediction model for functional impairment at 3 to 6 months after microsurgical resection, defined as a decrease in Karnofsky Performance Status of ≥ 10 points. Two prospective registries in…
Migraine headaches in adolescents: a five-year follow-up study
2002
Background and Objectives.—Longitudinal studies of juvenile migraine are very few. We investigated the prevalence and evolution over 5 years of migraine without aura (MWOA) and migraineous disorder (MD) in an adolescent population. Methods.—Sixty-four subjects (34 girls and 30 boys, mean age 17.3±1.1 years) out of 80 selected in our 1989 epidemiological survey were included in the study. The diagnostic criteria of the International Headache Society were used in both studies. Results.—Thirty-two of 64 subjects (50%) had MWAO, 18 (28.1%) had MD, and 14 (21.9%) had headache not classifiable (HnC). Our results show that MWOA persisted in 56.2%, converted to MD or HnC in 9.4% and 3.1% of cases, …
How mindfulness shapes the situational use of emotion regulation strategies in daily life.
2020
Mindfulness is associated with a wide range of beneficial outcomes such as well-being. However, less is known about the mechanisms underlying these benefits. Some researchers suggest that the benefits could be driven by emotion regulation, either by improving the effectiveness of emotion regulation or by lessening the need for effortful emotion regulation. By using two longitudinal Ambulatory Assessment data sets (
The link between mitochondrial DNA hypervariable segment I heteroplasmy and ageing among genetically unrelated Latvians
2011
International audience; Various studies have demonstrated that mitochondrial DNA (mtDNA) heteroplasmy tends to increase with age and that the observed frequency of heteroplasmy among populations mostly depends on the way it is measured. Therefore, we investigated age-related association on the presence of mtDNA heteroplasmy within the hypervariable segment 1 (HVS-I) in a selected study group. The study group consisted of 300 maternally unrelated Latvians ranging in age from 18 to over 90years. To determine the optimal method for mtDNA heteroplasmy detection, three approaches were used: (i) SURVEYORTM Mutation Detection Kit, (ii) sequencing and (iii) denaturing gradient-gel electrophoresis (…