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- A Standardized Classification for Subdural Hematomas- IPublication . Alves, JL; Santiago, JG; Costa, G; Mota-Pinto, ASubdural hematomas are a frequent and highly heterogeneous traumatic disorder, with significant clinical and socioeconomic consequences. In clinical and medicolegal practice, subdural hematomas are classified according to its apparent age, which significantly influences its intrinsic pathogenic behavior, forensic implications, clinical management, and outcome. Although practical, this empirical classification is somewhat arbitrary and scarcely informative, considering the remarkable heterogeneity of this entity. The current research project aims at implementing a comprehensive multifactorial classification of subdural hematomas, allowing a more standardized and coherent assessment and management of this condition. This new method of classification of subdural hematomas takes into account its intrinsic and extrinsic features, using imaging data and histopathological elements, to provide an easily apprehensible and intuitive nomenclature. The proposed classification unifies and organizes all relevant details concerning subdural hematomas, hopefully improving surgical care and forensic systematization.
- Phenotyping GABA transaminase deficiency: a case description and literature reviewPublication . Louro, P; Ramos, L; Robalo, C; Cancelinha, C; Dinis, A; Veiga, R; Pina, R; Rebelo, O; Pop, A; Diogo, L; Salomons, GS; Garcia, PGamma-aminobutyric acid transaminase (GABA-T) deficiency is an autosomal recessive disorder reported in only three unrelated families. It is caused by mutations in the ABAT gene, which encodes 4-aminobutyrate transaminase, an enzyme of GABA catabolism and mitochondrial nucleoside salvage. We report the case of a boy, deceased at 12 months of age, with early-onset epileptic encephalopathy, severe psychomotor retardation, hypotonia, lower-limb hyporeflexia, central hypoventilation, and rapid increase in weight and, to a lesser rate, length and head circumference. He presented signs of premature pubarche, thermal instability, and water-electrolyte imbalance. Serum total testosterone was elevated (43.3 ng/dl; normal range <16), as well as serum growth hormone (7.7 ng/ml; normal range <1). Brain magnetic resonance imaging (MRI) showed decreased myelination and generalized brain atrophy, later confirmed by post-mortem examination. ABAT gene sequencing was performed post-mortem, identifying a homozygous variant c.888G > T (p.Gln296His),not previously described. In vitro analysis concluded that this variant is pathogenic. The clinical features of this patient are similar to those reported so far in GABA-T deficiency. However, distinct mutations may have a different effect on enzymatic activity, which potentially could lead to a variable clinical outcome. Clinical investigation aiming for a diagnosis should not end with the patient's death, as it may allow a more precise genetic counselling for the family.