1,721,006 research outputs found
Congenital muscular dystrophy with syringomyelia
No full textWe report a 7-year-old boy with congenital muscular dystrophy with severe spinal deformation and low thoracic syringomyelia, which may represent a novel form of the disease with muscle involvement and spinal cord anomaly. We suggest that patients with congenital muscular dystrophy who manifest skeletal anomalies undergo spinal magnetic resonance imaging to detect potential spinal cord abnormalities, in addition to cranial magnetic resonance imaging to detect potential cerebral malformations
Molecular basis of phenotypic heterogeneity in siblings with spinal muscular atrophy
No full textWe report on a family with childhood-onset spinal muscular atrophy with intrafamilial phenotypic variation. Typical of a large majority of such patients, both the child with spinal muscular atrophy type I and the child with type II were missing both copies of the survival motor neuron telomeric gene (SMN(T)). The more severely affected child, however, showed genotypic evidence consistent with the de novo loss of DNA sequence in addition to that inherited by both affected children. These data suggest that the intrafamilial phenotypic variation in this family results from a new mutation event in the more severely affected child. Examples of intrafamilial phenotypic variability are quite rare, but some reports exist in the spinal muscular atrophy literature. We present evidence that one explanation for this phenomenon is the occurrence of de novo deletion events at the highly unstable disease locus
HyperCKemia as a biomarker for muscular diseases
No full textAn increased level of serum creatine kinase has been considered as an indirect sign of muscular disorders but it may be an indicator of other diseases (malignant hyperthermia, tumors or endocrinopathy). Some patients present with a stationary clinical condition and absence of muscular symptoms, in whom the unique abnormality is hyperCKemia that is not associated with any biological or genetic diagnosis of MD. In others asymptomatic patients, an increase in CK may be a hematological marker that can predict muscular disease. In this article, we review the causes that can lead to transitory or persistent HC
Neonatal onset of hot water reflex seizures in monozygotic twins subsequently manifesting episodes of alternating hemiplegia
Full text linkWe report on monozygotic twins with neonatal onset of daily reflex seizures triggered by hot water. Video record during the hot water bathing showed clinical signs consistent with a reflex seizure. The numbers of episodes were markedly reduced when the mother began bathing the children with reduced temperature bath water. At the age of 20 months, the twins developed episodes of paroxysmal disturbances including alternating hemiplegia. These two patients are the youngest reported cases of reflex hot water seizures, and the only reported cases in which reflex hot water seizures subsequently manifested episodes of alternating hemiplegia
Severe Psychotic Symptoms in Youth with PANS/PANDAS: Case-Series
No full textObjectives: To report a case series of children presenting with episodes of abrupt onset psychotic symptoms presumably linked to pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection (PANDAS) and pediatric acute-onset neuropsychiatric syndrome (PANS). Methods: Children/adolescents were selected among the group of individuals affected by clinical diagnosis of PANDAS/PANS. One group was selected by affected individuals coming from the Center UMDNJ-New Jersey Medical School, New Jersey, USA and the other from the Department of Pediatrics Catania University, Italy. Child health Questionnaire Parent form 50 was given to parents to describe children's quality of life. Results: Among the group of individuals with PANDAS/PANS disorders, eight children/adolescents were selected, six coming from the UMDNJ-New Jersey and two from Catania, University centers showing among the other typical manifestations severe episodes of abrupt onset of psychotic symptoms. Conclusions: Severe psychotic symptoms may be considered one among the other neuropsychiatric clinical manifestations presenting in individuals with PANDAS/PANS syndromes
Long-term survival in a child with arthrogryposis multiplex congenita and spinal muscular atrophy
No full textSpinal muscular atrophy type 0 is a severe form of spinal muscular atrophy that is usually fatal in the first months of life. These children present with arthrogryposis multiplex congenita and respiratory compromise. We describe a child with spinal muscular atrophy and arthrogryposis multiplex congenita who has had a much better course and is alive without ventilator support at age 6 years. This case illustrates that the prognosis for spinal muscular atrophy and arthrogryposis multiplex congenita cannot always be predicted with certainty
A clinical review on megalencephaly: A large brain as a possible sign of cerebral impairment.
Full text linkMegalencephaly and macrocephaly present with a head circumference measurement 2 standard deviations above the age-related mean. However, even if pathologic events resulting in both megalencephaly and macrocephaly may coexist, a distinction between these two entities is appropriate, as they represent clinical expression of different disorders with a different approach in clinical work-up, overall prognosis, and treatment. Megalencephaly defines an increased growth of cerebral structures related to dysfunctional anomalies during the various steps of brain development in the neuronal proliferation and/or migration phases or as a consequence of postnatal abnormal events. The disorders associated with megalencephaly are classically defined into 3 groups: idiopathic or benign, metabolic, and anatomic. In this article, we seek to underline the clinical aspect of megalencephaly, emphasizing the main disorders that manifest with this anomaly in an attempt to properly categorize these disorders within the megalencephaly group
Spine and brain malformations in a patient obligate carrier of MTHFR with autism and mental retardation
No full textNo abstract availabl
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
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