Hospital de Santa Maria
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Autism Spectrum Disorder: FRAXE Mutation, a Rare Etiology
No full textAutism spectrum disorder (ASD) is characterized by impaired social interaction and communication, restricted interests and repetitive behaviors. Fragile X E is associated with X-linked non-specific mild intellectual disability (ID) and with behavioral problems. Most of the known genetic causes of ASD are also causes of ID, implying that these two identities share common genetic bases. We present a child with an ASD with a normal range of intelligence quotient, that later evolved to compulsive behavior. FRAXE locus analysis by polymerase chain reaction revealed a complete mutation of the FMR 2 gene. This report stresses the importance of clinicians being aware of the association between a full mutation of FMR2 and ASD associated with compulsive behavior despite normal intellectual level
Patients’ Functionality And Satisfaction Following One-Sided, Primary, Non-Complicated Hallux Valgus Surgery
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Usefulness of Liver and Spleen Acoustic Radiation Force Impulse (ARFI) for the evaluation of cirrhotic patients
No full textObjective: To evaluate the correlation between ARFI and Child-Pugh classification. Secondary
Aims: 1) To compare ARFI values (hepatic, splenic and spleno-hepatic index) from cirrhotic to
normal population; 2) To correlate biochemical parameters of liver function and ARFI. Materials
and Methods: 58 cirrhotic patients (referenced to US for surveillance or to clarify any hepatic decompensation)
were included in this prospective study, as well as 38 healthy subjects who underwent
ultrasonography for other reasons than hepatic evaluation. All had ARFI liver and spleen
evaluation on ACUSON S2000 ARFI equipment. The best cut-off liver and spleen values for the diagnosis
of cirrhosis in comparison to the normal subjects were determined using SPSS® v20. Results:
Mean liver ARFI values in controls and cirrhotic patients were respectively 1.18 ± 0.22 m/s
and 2.93 ± 0.50 m/s. The ROC curve demonstrated an AUC 0.998 and the best cut-off was 1.89.
Mean spleen ARFI values in controls and cirrhotic patients were respectively 2.60 ± 0.42 m/s and
3.03 ± 0.71. The ROC curve demonstrated an AUC 0.766 and the best cut-off was 2.73 m/s. The
splenohepatic index showed a worse AUC than ARFI liver. A weak correlation was found between
the ARFI liver and Child-Pugh. We found no statistically significant differences for spleen ARFI
values and Child-Pugh. We found a statistically significant correlation between liver ARFI and bilirubin,
ALKP, GGT, AST and AST/ALT ratio; and with spleen ARFI and ALKP and AST/ALT ratio.
Conclusion: We showed that there is a tendency of higher levels of liver ARFI values for higher
Child-Pugh classification suggesting a definite trend for higher values with more severe disease
Giant colonic diverticulum presenting with painless rectal bleeding and diagnosed at angiography.
Get PDFBilateral Distal Femoral Nailing in a Rare Symmetrical Periprosthetic Knee Fracture
Get PDFThe authors report a case of a 78-year-old polytrauma patient, with severe thoracic trauma and bilateral symmetrical periprosthetic
femoral fractures after a violent car accident. After the primary survey, with the thoracic trauma stabilized, neurovascular lesions
excluded, and provisional immobilization applied, both fractures were classified as OTA: 33-A3, Rorabeck Type II, and closed
reduction and internal fixation with distal femoral nails were performed. At 5 months of follow-up, the patient was able to walk
with crutches and clear radiologic signs of fracture consolidation could be seen. At 24 months, the patient walked without any
walking aid and had recovered her previous functional status. This surgical option allowed the authors to achieve relative stability
using an intramedullary technique, preserving fracture hematoma in an osteopenic patient, and was found to be successful in
recovering the patient’s previous functional status and satisfaction after major trauma