SEED-AN and a non-specialised, severe mental illness (SMI) community treatment model: perspectives of professionals and patients of a QoL-focussed treatment.

Background: Improving care for SEED-AN patients is urgently needed. Current specialist eating disorder (SEDU) programs have minimal impact, resulting in poor quality of life. Flexible assertive community treatment (FACT) focuses on improving the quality of life of people with severe mental illness.

Clinical, Radiological and Pathological Features of a Large American Cohort of Spinocerebellar Ataxia (SCA27B).

Objectives: Spinocerebellar ataxia 27B due to GAA repeat expansions in the fibroblast growth factor 14 (FGF14) gene has recently been recognized as a common cause of late-onset hereditary cerebellar ataxia. Here we present the first report of this disease in the US population, characterizing its clinical manifestations, disease progression, pathological abnormalities, and response to 4-aminopyridine in a cohort of 102 patients bearing GAA repeat expansions.

Methods: We compiled a series of patients with SCA27B, recruited from 5 academic centers across the United States.

CCG•CGG interruptions in high-penetrance SCA8 families increase RAN translation and protein toxicity.

Spinocerebellar ataxia type 8 (SCA8), a dominantly inherited neurodegenerative disorder caused by a CTG•CAG expansion, is unusual because most individuals that carry the mutation do not develop ataxia. To understand the variable penetrance of SCA8, we studied the molecular differences between highly penetrant families and more common sporadic cases (82%) using a large cohort of SCA8 families (n = 77). We show that repeat expansion mutations from individuals with multiple affected family members have CCG•CGG interruptions at a higher frequency than sporadic SCA8 cases and that the number of CCG•CGG interruptions correlates with age at onset.

Can Clinical Evaluation Predict Return to Sport after Acute Hamstring Injuries? A Systematic Review.

Background: The current literature on the value of clinical evaluation for predicting time to return to sport (RTS) after acute hamstring injuries has not been systematically summarised.

Objectives: The aim of this study was to systematically review the literature on the prognostic value of clinical findings (patient history and physical examination) for time to RTS after acute hamstring injuries in athletes.

Data Sources: The databases PubMed, EMBASE, SPORTDiscus and Cochrane Library were searched between October 2014 and August 2015.

Spectrin mutations cause spinocerebellar ataxia type 5.

We have discovered that beta-III spectrin (SPTBN2) mutations cause spinocerebellar ataxia type 5 (SCA5) in an 11-generation American kindred descended from President Lincoln's grandparents and two additional families. Two families have separate in-frame deletions of 39 and 15 bp, and a third family has a mutation in the actin/ARP1 binding region. Beta-III spectrin is highly expressed in Purkinje cells and has been shown to stabilize the glutamate transporter EAAT4 at the surface of the plasma membrane.

The clinical and genetic spectrum of spinocerebellar ataxia 14.

Spinocerebellar ataxia 14 (SCA14) is associated with missense mutations in the protein kinase C gamma gene (PRKCG), rather than a nucleotide repeat expansion. In this large-scale study of PRKCG in patients with ataxia, two new missense mutations, an in-frame deletion, and a possible splice site mutation were found and can now be added to the four previously described missense mutations. The genotype/phenotype correlations in these families are described.

Spinocerebellar ataxia type 8: clinical features in a large family.

Objective: To compare the clinical and genetic features of the seven-generation family (MN-A) used to define the spinocerebellar ataxia 8 (SCA8) locus.

Background: The authors recently described an untranslated CTG expansion that causes a novel form of SCA (SCA8) characterized by reduced penetrance and complex patterns of repeat instability.

Methods: Clinical and molecular features of 82 members of the MN-A family were evaluated by neurologic examination, quantitative dexterity testing, and, in some individuals, MRI and sperm analyses.

SCA8 CTG repeat: en masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance.

We recently described an untranslated CTG expansion that causes a previously undescribed form of spinocerebellar ataxia (SCA8). The SCA8 CTG repeat is preceded by a polymorphic but stable CTA tract, with the configuration (CTA)(1-21)(CTG)(n). The CTG portion of the repeat is elongated on pathogenic alleles, which nearly always change in size when transmitted from generation to generation.

Extrarenal nephroblastic proliferation in spinal dysraphism. A report of 4 cases.

Four cases of extrarenal nephrogenic proliferation in the sacrococcygeal region with spinal dysraphism are presented. In two of the cases, features of Wilm's or incipient Wilm's tumor were present. The previous literature on sacrococcygeal nephrogenic tissue is reviewed, and the impact of these findings on the histogenesis of extrarenal sacrococcygeal Wilm's tumor is discussed.

Spinal cord arteriovenous fistulas involving the conus medullaris: presentation, management, and embryologic considerations.

Background: Spinal cord arteriovenous fistulas (SCAVF) are uncommon congenital lesions that usually involve the most caudal aspects of the cord. We present three cases of SCAVF that illustrate the clinical manifestations and possible management options. The characteristic involvement of the conus medullaris and an associated tethered spinal cord in one of our patient suggests that a disorder of secondary neurulation may be involved in the formation of these arteriovenous shunt lesions.

An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8).

Myotonic dystrophy (DM) is the only disease reported to be caused by a CTG expansion. We now report that a non-coding CTG expansion causes a novel form of spinocerebellar ataxia (SCA8). This expansion, located on chromosome 13q21, was isolated directly from the genomic DNA of an ataxia patient by RAPID cloning.

Incidence of dominant spinocerebellar and Friedreich triplet repeats among 361 ataxia families.

Objective: To determine the incidence of spinocerebellar ataxia (SCA) types 1, 2, 3, 6, and 7 and Friedreich's ataxia (FA) among a large panel of ataxia families.

Background: The ataxias are a clinically and genetically heterogeneous group of neurodegenerative diseases that variably affect the cerebellum, brainstem, and spinocerebellar tracts. Trinucleotide repeat expansions have been shown to be the mutational mechanism for five dominantly inherited SCAs as well as FA.

Brain glyceraldehyde-3-phosphate dehydrogenase activity in human trinucleotide repeat disorders.

Background: Although the abnormal gene products responsible for several hereditary neurodegenerative disorders caused by repeat CAG trinucleotides have been identified, the mechanism by which the proteins containing the expanded polyglutamine domains cause cell death is unknown. The observation that several of the mutant proteins interact in vitro with the key glycolytic enzyme glyceraldehyde-3-phosphate dehydrogenase (GAPDH) suggests that interaction between the different gene products and GAPDH might damage brain neurons.

Objective: To measure the activity of GAPDH in postmortem brain of patients with CAG repeat disorders.

Motor system changes in the aging brain: what is normal and what is not.

Age-related changes in the nervous system may present with physical signs that are not unlike early manifestations of several clinical disorders. Gait disturbances (immobility), balance difficulties (instability), and certain motor control problems (i.e.

[Chiari malformations and hydrosyringomyelia].

Introduction: The association of hindbrain herniation, better known as Chiari malformation, and cystic cavitation of the spinal cord or hydrosyringomyelia has been well described in the literature although there is little consensus regarding its etiology, pathophysiology or optimal treatment.

Development: Despite a well-accepted and utilized classification system of both Chiari malformation and hydrosyringomyelia, there remains considerable disagreement regarding the proper management of these patients.

Conclusions: This article reviews several popular theories on the etiology and pathophysiology of this disorder, briefly discusses the clinical features and radiologic findings associated with Chiari malformation and hydrosyringomyelia, and reviews basic surgical techniques for decompression of the cranial-cervical junction and treatment of the hydrosyringomyelia.

Imaging studies in a unique familial dysmyelinating disorder.

We report the imaging findings in five patients with a unique dysmyelinating disorder. MR studies of these infants showed obstructive hydrocephalus caused by mass effect produced by an enlarged cerebellum. The white matter of an enlarged cerebrum and cerebellum showed delayed myelination.

Spontaneous thrombosis of a basilar artery traumatic aneurysm in a child.

Traumatic aneurysms are rare and occur most commonly in young adults; however, the relative frequency in the pediatric population is high, owing to the low prevalence of congenital saccular aneurysms in children. Traumatic aneurysms typically involve the anterior circulation, and spontaneous thrombosis is uncommon; hence, surgery is usually necessary. We present a case of a posttraumatic aneurysm in a child that occurred after a fall from a large height and that spontaneously thrombosed.

Visual impairment associated with mutism after posterior fossa surgery in children.

Objective: To report four children with visual impairment associated with mutism after posterior fossa surgery. Mutism after posterior fossa surgery is a well-described phenomena, but to our knowledge, visual impairment has not been reported in association with it.

Methods: Record review of four children (age range, 3-7 yr) who underwent posterior fossa surgery (via suboccipital craniotomies) for removal of a medulloblastoma (three patients) or ependymoma (one patient).

Clinician reliability and accuracy in judging appropriate level of care.

Accurately assigning children to the most appropriate level of care is widely recognized as important. Managed care companies conduct utilization reviews in which they monitor the level of care to which clients are assigned using written placement criteria. However, no research has examined the ability of clinicians to perform this task.

Validating quality indicators. Quality as relationship between structure, process, and outcome.

Theory and research have not kept pace with the growing interest in evaluating quality of mental health care, resulting in the use of unvalidated quality indicators. A framework for validating quality indicators is offered by which quality is viewed as the relationship between service structures, processes, and outcomes. Adoption of this framework will facilitate the measurement of quality using valid indicators and should be useful to agencies in their continuous quality improvement efforts.

Progressive congenital kyphosis: report of five cases and review of the literature.

For over 60 years congenital kyphotic deformities of the spine have been categorized into two distinct groups, depending on the developmental defect. Those arising from a failure of formation of the vertebral bodies were classified as type 1, while those arising from a failure of segmentation were referred to as type 2. Recognition of the progressive and unstable nature of the type 1 defects alerted physicians to the need for early operative stabilization through decompression and stabilization through instrumentation.