Theory of mind profile and cerebellar alterations in remitted bipolar disorder 1 and 2: a comparison study

The literature on social cognition abilities in bipolar disorder (BD) is controversial about the occurrence of theory of mind (ToM) alterations. In addition to other cerebral structures, such as the frontal and limbic areas, the processing of socially relevant stimuli has also been attributed to the cerebellum, which has been demonstrated to be involved in the abovementioned disorder. Nevertheless, the cerebellar contribution to ToM deficits in bipolar patients needs to be elucidated further. To this aim, two tests assessing different components of ToM were used to evaluate the ability to appreciate affective and mental states of others in 17 individuals with a diagnosis of BD type 1 (BD1) and 13 with BD type 2 (BD2), both in the euthymic phase, compared to healthy matched controls. Cerebellar grey matter (GM) volumes were extracted and compared between BD1 and controls and BD2 and controls by using voxel-based morphometry. The results showed that BD1 patients were compromised in the cognitive and advanced components of ToM, while the BD2 ToM profile resulted in a more widespread compromise, also involving affective and automatic components. Both overlapping and differing areas of cerebellar GM reduction were found. The two groups of patients presented a pattern of GM reduction in cerebellar portions that are known to be involved in the affective and social domains, such as the vermis and Crus I and Crus II. Interestingly, in both BD1 and BD2, positive correlations were detected between lower ToM scores and decreased volumes in the cerebellum. Overall, BD2 patients showed a more compromised ToM profile and greater cerebellar impairment than BD1 patients. The different pattern of structural abnormalities may account for the different ToM performances evidenced, thus leading to divergent profiles between BD1 and BD2

Comparison of cerebellar grey matter alterations in bipolar and cerebellar patients: evidence from Voxel-based analysis

The aim of this study was to compare the patterns of cerebellar alterations associated with bipolar disease with those induced by the presence of cerebellar neurodegenerative pathologies to clarify the potential cerebellar contribution to bipolar affective disturbance. Twenty-nine patients affected by bipolar disorder, 32 subjects affected by cerebellar neurodegenerative pathologies, and 37 age-matched healthy subjects underwent a 3T MRI protocol. A voxel-based morphometry analysis was used to show similarities and differences in cerebellar grey matter (GM) loss between the groups. We found a pattern of GM cerebellar alterations in both bipolar and cerebellar groups that involved the anterior and posterior cerebellar regions (p = 0.05). The direct comparison between bipolar and cerebellar patients demonstrated a significant difference in GM loss in cerebellar neurodegenerative patients in the bilateral anterior and posterior motor cerebellar regions, such as lobules I-IV, V, VI, VIIIa, VIIIb, IX, VIIb and vermis VI, while a pattern of overlapping GM loss was evident in right lobule V, right crus I and bilateral crus II. Our findings showed, for the first time, common and different alteration patterns of specific cerebellar lobules in bipolar and neurodegenerative cerebellar patients, which allows us to hypothesize a cerebellar role in cognitive and mood dysregulation symptoms that characterize bipolar disorde

Ultrasound-guided diagnostic breast biopsy methodology: retrospective comparison of the 8-gauge vacuum-assisted biopsy approach versus the spring-loaded 14-gauge core biopsy approach

<p>Abstract</p> <p>Background</p> <p>Ultrasound-guided diagnostic breast biopsy technology represents the current standard of care for the evaluation of indeterminate and suspicious lesions seen on diagnostic breast ultrasound. Yet, there remains much debate as to which particular method of ultrasound-guided diagnostic breast biopsy provides the most accurate and optimal diagnostic information. The aim of the current study was to compare and contrast the 8-gauge vacuum-assisted biopsy approach and the spring-loaded 14-gauge core biopsy approach.</p> <p>Methods</p> <p>A retrospective analysis was done of all ultrasound-guided diagnostic breast biopsy procedures performed by either the 8-gauge vacuum-assisted biopsy approach or the spring-loaded 14-gauge core biopsy approach by a single surgeon from July 2001 through June 2009.</p> <p>Results</p> <p>Among 1443 ultrasound-guided diagnostic breast biopsy procedures performed, 724 (50.2%) were by the 8-gauge vacuum-assisted biopsy technique and 719 (49.8%) were by the spring-loaded 14-gauge core biopsy technique. The total number of false negative cases (i.e., benign findings instead of invasive breast carcinoma) was significantly greater (P = 0.008) in the spring-loaded 14-gauge core biopsy group (8/681, 1.2%) as compared to in the 8-gauge vacuum-assisted biopsy group (0/652, 0%), with an overall false negative rate of 2.1% (8/386) for the spring-loaded 14-gauge core biopsy group as compared to 0% (0/148) for the 8-gauge vacuum-assisted biopsy group. Significantly more (P < 0.001) patients in the spring-loaded 14-gauge core biopsy group (81/719, 11.3%) than in the 8-gauge vacuum-assisted biopsy group (18/724, 2.5%) were recommended for further diagnostic surgical removal of additional tissue from the same anatomical site of the affected breast in an immediate fashion for indeterminate/inconclusive findings seen on the original ultrasound-guided diagnostic breast biopsy procedure. Significantly more (P < 0.001) patients in the spring-loaded 14-gauge core biopsy group (54/719, 7.5%) than in the 8-gauge vacuum-assisted biopsy group (9/724, 1.2%) personally requested further diagnostic surgical removal of additional tissue from the same anatomical site of the affected breast in an immediate fashion for a benign finding seen on the original ultrasound-guided diagnostic breast biopsy procedure.</p> <p>Conclusions</p> <p>In appropriately selected cases, the 8-gauge vacuum-assisted biopsy approach appears to be advantageous to the spring-loaded 14-gauge core biopsy approach for providing the most accurate and optimal diagnostic information.</p

Redefining the MED13L syndrome

Congenital cardiac and neurodevelopmental deficits have been recently linked to the mediator complex subunit 13-like protein MED13L, a subunit of the CDK8-associated mediator complex that functions in transcriptional regulation through DNA-binding transcription factors and RNA polymerase II. Heterozygous MED13L variants cause transposition of the great arteries and intellectual disability (ID). Here, we report eight patients with predominantly novel MED13L variants who lack such complex congenital heart malformations. Rather, they depict a syndromic form of ID characterized by facial dysmorphism, ID, speech impairment, motor developmental delay with muscular hypotonia and behavioral difficulties. We thereby define a novel syndrome and significantly broaden the clinical spectrum associated with MED13L variants. A prominent feature of the MED13L neurocognitive presentation is profound language impairment, often in combination with articulatory deficits

Depressione e malattie cardiovascolari: implicazioni per i trattamenti psicofarmacologici. II

La depressione maggiore è un disturbo che si presenta con elevata frequenza in comorbidità con le patologie cardiovascolari. Questo fenomeno sembrerebbe legato a specifi che interazioni tra i meccanismi fi siopatologici alla base dei due distrubi. Nei casi in cui sia presente questo tipo di comorbidità la scelta del farmaco per la cura della sintomatologia depressiva andrebbe effettuata tenendo in considerazione le possibili interazioni tra i farmaci usati per il trattamento dell’affezione somatica e gli antidepressivi stessi. Inoltre i farmaci antidepressivi andrebbero sempre scelti sulla base del loro profi lo di sicurezza cardiovascolare. Lo scopo di questa rassegna è quello di poter valutare, facendo riferimento ai dati pubblicati in letteratura fi no ad oggi, la tollerabilità, sicurezza ed effi cacia dei vari farmaci attualmente disponibili per la cura dei sintomi depressivi, affi nchè sia possibile comprendere quali siano i composti psicotropi da preferire nel trattamento dei pazienti depressi affetti da patologie cardiovascolari. Gli antidepressivi triciclici sono responsabili di vari effetti avversi, tra i quali ipotensione ortostatica, aritmie, rallentamento della conduzione elettrica e della frequenza cardiaca. Gli SSRI invece sono risultati dotati di un migliore profi lo di sicurezza, infatti sono attualmente considerati i farmaci di prima scelta per il trattamento di questi pazienti. Nei casi di depressione psicotica potrebbe risultare necessario far ricorso all’uso di antipsicotici. Tra questi, l’amisulpiride è risultato essere il neurolettico dotato di minori effetti avversi a carico del sistema cardiovascolare. Allo stato attuale vi sono pochi studi di valutazione del profi lo di sicurezza, tollerabilità ed effi cacia dei farmaci antidepressivi realizzati su campioni composti da pazienti depressi affetti da patologie cardiovascolari. Inoltre non sono ancora disponibili risultati di studi clinici che permettano di defi nire con chiarezza i rischi e i benefi ci a medio e lungo termine delle terapie farmacologiche antidepressive in questi pazienti. È dunque auspicabile che vengano realizzati ulteriori studi