Cerebral Palsy

INTRODUCTION: We hypothesized that magnetic resonance imaging (MRI) can assess fetuses with sonographically (ultrasonography (US))-suspected neural tube defects (NTD) that might influence their diagnoses and management decision. METHODS: Institutional review board approval and informed consents were obtained to perform MRI for 19 fetuses referred with US-suspected NTD. Prenatal imaging findings were correlated with management decision, postnatal clinical, postnatal imaging, and pathology. RESULTS: Prenatal MRI correctly ruled out US diagnosis of cephalocele in a fetus. In the other 18 fetuses, MRI detected detailed topography and contents of NTD sacs in five, added central nervous system (CNS) abnormalities that were not apparent on US in three, and confirmed non-CNS findings in three fetuses. MRI changed diagnosis of 3/19 fetuses (15.8%), caused minor change in diagnosis of 5/19 (26.3%), and did not influence US diagnosis of 11/19 fetuses (57.9%). MRI findings changed/modified management decision in 21% of the fetuses. CONCLUSION: Fetal MRI is an important adjunct to US in assessing NTD. It can identify topography and contents of sacs, add CNS and non-CNS findings, and influence management decision.

Febrile neutropenia (FN) can frequently become a very serious problem. In 2002, Klastersky and colleagues established the Multinational Association for Supportive Care in Cancer (MASCC) score, which consisted of risk factors for conditions that included solid tumors. However, hematopoietic tumors, in comparison to solid tumors, are plagued by such problems as the quantity and quality of abnormalities associated with leukocytes and neutrophils and the requirement for higher dosages of both radio- and chemotherapy. FN is a complication associated with hematological malignancies that can lead to a fatal outcome, but it is avoidable if the appropriate preventive treatment is performed at an early stage. The subjects of the present study consisted of 354 patients with hematopoietic malignancies who were treated at the Japanese Red Cross Medical Center Hospital, Tokyo, between August 2000 and September 2004. They were retrospectively evaluated for the risk factors of FN by applying Wilcoxon’s rank sum test. A scoring index was defined and the patients were classified into high- and low-risk groups before evaluation. The following nine risk factors, which may significantly influence the relationship between the time required for defervescence and the duration of neutropenia – age; hematological diseases; the leukocyte count during the febrile period; the reduction in leukocyte count per day before the onset of FN; the prophylactic administration of antimycotic agents; sterilization of the intestinal tract; and urine albumin content, creatine level, and C-reactive protein (CRP) level – were expressed in points and their sum was termed risk points. The range of risk points was classified as 0-3 and 4-9. The time required for defervescence was 5.1 days when the risk points were in the range of 0-3 and 8.1 days when the points were in the range of 4-9. These figures were distributed normally and there was a significant difference between the two groups (P = 0.0016). FN associated with hematological malignancies is somewhat different from that related to other malignancies; it is therefore associated with unique risk factors. Most of the risk factors used in the present study can be evaluated objectively. At the onset of FN, they were expressed in points for evaluation. Further prospective studies are needed to determine whether these risk factors are suitable for use in actual cases.

The mutual interaction of the two supramolecular compartments, the fibrillar and extrafibrillar matrix is a prerequisite for stability and integrity of the cartilage extracellular matrix. The fibrillar periphery, composed of collagen IX, matrilins and cartilage oligomeric matrix protein (COMP) among other components, constitutes the interface which mediates interactions between the two compartments. Mutations in these peripheral macromolecules cause a broad spectrum of skeletal conditions such as pseudo-achondroplasia (PSACH) and multiple epiphyseal dysplasia (MED), which severely affect the organization and integrity of the cartilage growth matrix in humans. Transgenic and knockout mouse models for collagen IX, matrilin-3 and COMP and combinations thereof display cartilage abnormalities and pathologies of varying severity. Absence of collagen IX appears to cause the most severe growth plate phenotype with a profoundly disturbed morphological organization affecting size and shape of the long bones. Notably, similar growth plate phenotypes, including irregularities in the proteoglycan content, hypocellular central regions, disorganized proliferation columns with atypically shaped and oriented chondrocytes and alterations in the hypertrophic zone are observed in transgenic mice lacking other macromolecules or carrying mutations therein. These include collagens II and XI, integrin subunits, integrin linked kinase (ILK), HIF-1alpha, VEGFalpha and the tumor suppressor PTEN. Notably, mutations in ciliar proteins such as Kif3alpha, polaris or Smo/Gli severely affect the ability of chondrocytes to move and to become arranged in columns. Absence or mutational changes of a variety of different, non-related cartilage macromolecules apparently cause similar pathologies and abnormalities of the growth cartilage, suggesting a limited number of underlying molecular mechanisms.

Children with autism spectrum disorder (ASD) exhibit characteristic cognitive and behavioral differences, but no systematic pattern of neuroanatomical differences has been consistently found. Recent neurodevelopmental models posit an abnormal early surge in subcortical white matter growth in at least some autistic children, perhaps normalizing by adulthood, but other studies report subcortical white matter deficits. To investigate the profile of these alterations in 3D, we mapped brain volumetric differences using a relatively new method, tensor-based morphometry. 3D T1-weighted brain MRIs of 24 male children with ASD (age: 9.5 years +/- 3.2 SD) and 26 age-matched healthy controls (age: 10.3 +/- 2.4 SD) were fluidly registered to match a common anatomical template. Autistic children had significantly enlarged frontal lobes (by 3.6% on the left and 5.1% on the right), and all other lobes of the brain were enlarged significantly, or at trend level. By analyzing the applied deformations statistically point-by-point, we detected significant gray matter volume deficits in bilateral parietal, left temporal and left occipital lobes (P = 0.038, corrected), trend-level cerebral white matter volume excesses, and volume deficits in the cerebellar vermis, adjacent to volume excesses in other cerebellar regions. This profile of excesses and deficits in adjacent regions may (1) indicate impaired neuronal connectivity, resulting from aberrant myelination and/or an inflammatory process, and (2) help to understand inconsistent findings of regional brain tissue excesses and deficits in autism. Hum Brain Mapp, 2009. (c) 2009 Wiley-Liss, Inc.

Systemic abnormalities often occur in patients with liver disease. In particular, cardiopulmonary or renal diseases accompanied by advanced liver disease can be serious and may determine the quality of life and prognosis of patients. Therefore, both hepatologists and non-hepatologists should pay attention to such abnormalities in the management of patients with liver diseases.

BACKGROUND: Malignant melanoma is a rare neoplasm in the pediatric population, but its incidence has risen in recent years. METHODS: The literature was reviewed to define the current clinical and pathologic features of pediatric melanoma, highlighting the similarities and differences between adult and pediatric melanoma. RESULTS: Distinctive features of this disease, including frequency and type of genetic abnormalities, predisposing conditions, clinical presentation, stage at diagnosis, prognostic features, and frequency of sentinel lymph node positivity are emphasized. Treatment strategies, extrapolated from adult melanoma trials, are also discussed. CONCLUSIONS: Despite the differences between pediatric and adult melanoma, survival rates are similar and are improving in both populations. Further studies will help delineate the pathogenesis of both adult and pediatric melanoma, with the goal of contributing to early detection and improved survival.

Alcoholism and antisocial personality disorder (ASPD) often are comorbid conditions. Alcoholics, as well as nonalcoholic individuals with ASPD, exhibit behaviors associated with prefrontal brain dysfunction such as increased impulsivity and emotional dysregulation. These behaviors can influence drinking motives and patterns of consumption. Because few studies have investigated the combined association between ASPD and alcoholism on neuropsychological functioning, this study examined the influence of ASPD symptoms and alcoholism on tests sensitive to frontal brain deficits. The participants were 345 men and women. Of them, 144 were abstinent alcoholics (66 with ASPD symptoms), and 201 were nonalcoholic control participants (24 with ASPD symptoms). Performances among the groups were examined with Trails A and B tests, the Wisconsin Card Sorting Test, the Controlled Oral Word Association Test, the Ruff Figural Fluency Test, and Performance subtests of the Wechsler Adult Intelligence Scale. Measures of affect also were obtained. Multiple regression analyses showed that alcoholism, specific drinking variables (amount and duration of heavy drinking), and ASPD were significant predictors of frontal system and affective abnormalities. These effects were different for men and women. The findings suggested that the combination of alcoholism and ASPD leads to greater deficits than the sum of each.

We report the case of a 73-year-old male patient who was suffered trauma after a syncopal fall onto a railway track in the form of an atlanto-occipital dislocation. The diagnostic revealed a bilateral fracture of the occipital condyles coupled with a ventral atlanto-occipital dislocation (Jeanneret type 4) and also an odontoid fracture (Anderson type 2). The patient underwent dorsal spondylodesis of C0-C2 in combination with Magerl’s C1-C2 screw fixation. Pre-operatively and postoperatively no neurological abnormalities were found. This rarely occurring and survived tramatological situation is described using the present case as an example.

BACKGROUND: Abnormalities of the hemostasis can lead to hemorrhage, and on the other hand to thrombosis. Intracranial neoplasms, complex surgical procedures, and head injury have a specific impact on coagulation and fibrinolysis. Moreover, the number of neurosurgical patients on medication (which interferes with platelet function and/or the coagulation systems) has increased over the past years. METHOD: The objective of this review is to recall common hemostatic disorders in neurosurgical patients on the basis of the “new concept of hemostasis”. Therefore the pertinent literature was searched to provide a structured and up to date manuscript about hemostasis in Neurosurgery. FINDINGS: According to recent scientific publications abnormalities of the coagulation system are discussed. Pathophysiological background and the rational for specific (cost)-effective perioperative hemostatic therapy is provided. CONCLUSIONS: Perturbations of hemostasis can be multifactorial and maybe encountered in the daily practice of neurosurgery. Early diagnosis and specific treatment is the prerequisite for successful treatment and good patients outcome.

We report four new patients with a submicroscopic deletion in 15q24 manifesting developmental delay, short stature, hypotonia, digital abnormalities, joint laxity, genital abnormalities, and characteristic facial features. These clinical features are shared with six recently reported patients with a 15q24 microdeletion, supporting the notion that this is a recognizable syndrome. We describe a case of an ~2.6 Mb microduplication involving a portion of the minimal deletion critical region in a 15-year-old male with short stature, mild mental retardation, attention deficit hyperactivity disorder, Asperger syndrome, decreased joint mobility, digital abnormalities, and characteristic facial features. Some of these features are shared with a recently reported case with a 15q24 microduplication involving the minimal deletion critical region. We also report two siblings and their mother with duplication adjacent and distal to this region exhibiting mild developmental delay, hypotonia, tapering fingers, characteristic facial features, and prominent ears. The deletion and duplication breakpoints were mapped by array comparative genomic hybridization and the genomic structure in 15q24 was analyzed further. Surprisingly, in addition to the previously recognized three low-copy repeat clusters (BP1, BP2, and BP3), we identified two other paralogous low-copy repeat clusters that likely mediated the formation of alternative sized 15q24 genomic rearrangements via non-allelic homologous recombination.