A practical definition of minor stroke

It is generally assumed that minor stroke (MS) is an ischemic stroke with a short-term, good functional outcome. However, no clear definition of MS exists. Modified Rankin Scale (mRS) and National Institute of Health Stroke Scale (NIHSS) are still the most accredited standards, but scores and timing of the assessment are not homogeneous. As suggested by a qualified sample of Italian neurologists, the index parameter chosen in our analysis was mRS at the time of hospital discharge. The database of the SIRIO study (a large observational study of 2,573 patients with stroke admitted in Italian hospitals in 2005) was used to identify an mRS threshold to define MS. Reference was made to outcome markers such as rate of discharge to home, 1-year disability and 1-year mortality. The rate of discharge progressively decreased with increase in mRS, while the rates of 1-year mortality and disability progressively increased. Our proposal is one of defining a stroke “minor” when the rate of discharge to home is above the SIRIO database overall value and the 1-year mortality and disability is below the respective overall values. This definition is consistent with a score ≤2 on the mRS.     

Attentional shifts between audition and vision in Autism Spectrum Disorders

Previous evidence on neurotypical adults shows that the presentation of a stimulus allocates the attention to its modality, resulting in faster responses to a subsequent target presented in the same (vs. different) modality. People with Autism Spectrum Disorders (ASDs) often fail to detect a (visual or auditory) target in a stream of stimuli after shifting attention between modalities, possibly because they do not fully switch their attention from one modality to the other. In this study, the performance of a group of high-functioning patients with ASDs and a group of neurotypical controls was compared. Participants were asked to detect a target, auditory or visual, which was preceded, at different temporal intervals (i.e., 150, 600, 1000 ms), by an uninformative cue, either in the same or a different modality. In controls, when the target was visual, the cue modality did not affect performance. Unlike, when the target was auditory, a visual cue produced longer reaction times as compared to when it was auditory. In the ASD group, irrespectively of the modality of the cue, a slowing-down of responses to the target was observed at increasing temporal intervals. The discrepancy of performance is consistent with the ‘over-focused’ theory of sensory processing.     

The psychological impact of cryptic chromosomal abnormalities diagnosis announcement

This qualitative study aims to describe the psychological impact of the diagnosis announcement of pathogenic Copy Number Variations (pCNVs). We performed semi-structured interviews of 60 parents of 41 affected children and 5 geneticists who announced the diagnoses. The diagnosis of the best characterized microdeletion syndromes, often defined by patronymic names (e.g. Williams syndrome), is generally made on a clinical basis by geneticists and confirmed by fluorescence in situ hybridization analysis. Chromosomal microarray, on the contrary, can allow the disclosure of rare pCNVs named after cytogenetic formulas, with poorly known clinical consequences: this makes doctors feel less confident with these diagnosis announcements. The disclosure of pCNVs named after cytogenetic formulas does not facilitate the parental mental representation of the disease, leading some parents to call into question the genotype-phenotype correlation or the very notion of a diagnosis. The announcement of inherited pCNVs can increase the feeling of parental guilt; the disclosure of de novo pCNVs can induce a feeling of “breakage” in the mental representation of the parent-child vertical transmission. In conclusion, our study shows that the disclosure of pCNVs has a significant psychological impact: a multidisciplinary approach to the diagnosis announcement, including a psychological support, should be systematically warranted.     

Intact parathyroid hormone measurement at 24 hours after thyroid surgery as predictor of parathyroid function at long term

Background

There is no consensus about the usefulness of postoperative intact parathyroid hormone (iPTH) determination to predict permanent hypoparathyroidism (pHPP). We evaluated the value of calcium (Ca²⁺) and iPTH concentration at 24 hours after total thyroidectomy (TT) for predicting pHPP.

Methods

Ca²⁺ and iPTH levels from 70 consecutive patients who underwent TT were measured at 24 hours and 6 months after TT.

Results

Five patients (7.1%) developed pHPP. An iPTH concentration ≤5.8 pg/mL at 24 hours after TT identified patients at risk for pHPP (sensitivity, 100%; specificity, 81.5%), but it was not accurate enough to predict its development (positive predictive value, 30%). Conversely, an iPTH level >5.8 pg/mL predicted normal parathyroid function at 6 months (negative predictive value, 100%). Compared with iPTH, a postoperative Ca²⁺ level ≤1.95 mmol/L was 60% sensitive and 78.5% specific to predict pHPP.

Conclusions

An iPTH concentration >5.8 pg/mL on the first postoperative day rules out pHPP with much better diagnostic accuracy than Ca²⁺. Postoperative iPTH could be helpful in identifying patients at risk for developing pHPP.     

The loss of extension test (LOE test): a new clinical sign for the anterior cruciate ligament insufficient knee

Background

This prospective study was created to evaluate the reliability of a new clinical test, which we termed the “loss of extension test” (LOE test). The LOE test investigates the loss of normal maximum passive extension (MPE) of the knee due to an anterior cruciate ligament tear in comparison to the normal MPE of the healthy knee.

Materials and methods

The study was divided into two consecutive parts. Part 1 was designed to assess the side-to-side difference in normal MPE in a healthy population. In part 1, 100 healthy adults were enrolled. Part 2 was designed to evaluate the LOE test reliability in injured knees. In part 2, we included 196 selected patients.

Results

In part 1, the average side-to-side difference in MPE in the healthy population was not statistically significant. In part 2, the overall average side-to-side difference in MPE of the injured group was 10.1 mm ± 14.1 (min −20; max 60), which was not statistically significant (p = 0.52). An anterior cruciate ligament (ACL) tear was found in 121 knees among 196 patients. The average side-to-side difference in MPE in the ACL-insufficient group was 16.9 mm ± 13.4 (min −20; max 60), which was statistically significant (p < 0.0001). The accuracy of the loss of extension test was 83.7 %, its specificity was 93.3 %, its sensitivity was 77.7 %, its positive predictive value was 95 %, and its negative predictive value was 72.2 %.

Conclusions

The reliability of the LOE test is comparable to those reported in the literature for the Lachman test and dynamic tests, so the LOE test could represent a useful tool for the diagnosis of the anterior cruciate ligament insufficient knee.     

Distinctive clinical and neuroimaging characteristics of longitudinally extensive transverse myelitis associated with aquaporin-4 autoantibodies

Longitudinally extensive transverse myelitis (LETM) is a characteristic feature of Neuromyelitis Optica (NMO), but it can also occur in several other inflammatory diseases of the central nervous system (CNS). An IgG autoantibody that binds to aquaporin-4 (AQP4), the predominant water channel of the CNS, is a reliable biomarker of the NMO spectrum disorders, and if detected predicts the recurrence of the myelitis. In this study, we compared the clinical and neuroimaging characteristics of AQP4-IgG+ and AQP4-IgG? LETM patients. Thirty-seven first-ever LETM patients were retrospectively evaluated and divided into two groups according to the presence of AQP4 autoantibodies. AQP4-IgG was detected in the serum and in the cerebrospinal fluid of sixteen patients. The female to male ratio was higher in AQP4-IgG+ patients. Intractable nausea and vomiting and paroxysmal tonic spasms often accompanied the LETM in AQP4-IgG+ patients. T2-weighted spinal cord MRI revealed that inflammatory lesions extending into the brainstem and involving the central grey matter occurred more frequently in AQP4-IgG+ LETM patients. Hypointense lesions on T1-weighted spinal cord MRI were detected more frequently in the seropositive group, and their presence correlated with attack severity. In conclusion, this study provides clinical and spinal cord neuroimaging clues that can help distinguishing AQP4-IgG+ LETM patients.