Incidental findings on brain MRI in patients with first-episode and chronic psychosis.

Brain incidental findings (IFs) are unexpected brain abnormalities detected by a structural magnetic resonance (MRI) examination. We conducted a study to assess whether brain IFs are associated with first-episode psychosis (FEP) and chronic psychosis (affective vs. non-affective) compared to healthy controls (HC). Chi-squared analyses were run to compare the frequency of several IFs across groups. Logistic regression analyses were run to explore the association between group and IFs, accounting for sex, age, MRI field strength. We observed a higher frequency of most IFs in both FEP and chronic psychosis groups compared to HC, however most of the chi-squared tests did not reach significance. Patients with FEP and chronic psychosis were 3-4 times more likely to show deep white matter hyperintensities (WMH) than HC. Patients with FEP and affective chronic psychosis were 3-4 times more likely to show ventricular asymmetries than HC. All chronic patients were more likely to show periventricular WMH, liquoral spaces enlargements and ventricular system enlargements respectively. Our results suggest that deep WMH and ventricular asymmetries are associated with both the early and the chronic stages of psychosis, thus representing potential vulnerability factors already present before the onset of the symptoms, possibly due to neurodevelopmental insults.

Subcochlear canaliculus patterns in the pediatric and adult population: radiological findings and surgical implications.

INTRODUCTION: The pneumatization of the different regions of the temporal bone is strictly related to the age and the degree of development of the mastoid and the middle ear. Petrous apex pneumatization is the last step of the development of the petrous bone system. The subcochlear canaliculus is an anatomical cavity, originating in the space between the fustis and the finiculus, and connecting the round window area to the petrous apex. The aim of the present article is analyzing the trend of development of the subcochlear canaliculus pneumatization, classified through CT scan examination, in different age subgroups. MATERIALS AND METHODS: We conducted a retrospective review of patients who underwent temporal bone CT scans between 2014 and 2019. Pediatric and adult patients were included and divided into different age subgroups. The subcochlear canaliculus was examined through coronal view scans at the level of the round window niche and classified into 3 different groups (A, B and C) according to the degree of pneumatization. RESULTS: A total of 270 Petrous bone CT scans was analyzed. The percentage of type A subcochlear canaliculus was significantly higher in the pediatric population if compared to the adult population (p = 0.001326). As far as type B subcochlear canaliculus is concerned, the difference between children and adults was not statistically significant (p = 0.2378). On the other hand, type C subcochlear canaliculus was predominant in the adult population (p = 0.000256). CONCLUSIONS: There is a constant increase in pneumatization of the subcochlear canaliculus from 0 to 19 years and then a progressive decrease. This discovery has relevant surgical implications and has to be borne in mind in particular for cholesteatoma surgery and cochlear implantation surgery in the age groups in which the subcochlear canaliculus is highly pneumatized.

Adult Mild Encephalitis With Reversible Splenial Lesion Associated With Delirious Mania: A Case Report.

Mild encephalitis with reversible splenial lesion is a rare clinic-radiological entity presenting with neurological and neuropsychiatric symptoms associated with cerebral lesion/s. Delirious mania is a severe psychiatric syndrome characterized by acute onset of delirium, excitement, and psychosis with a high mortality rate. In this paper, we present a case report of mild encephalitis with reversible splenial lesion clinically presenting as delirious mania and evolving into life-threatening multi-organ failure. The patient was treated with aripiprazole and benzodiazepine with poor effect and, after 4 days, the patient's condition significantly worsened requiring transfer to the intensive care unit where deep sedation with propofol was started. Our findings are in contrast with the traditional literature description of self-resolving and harmless mild encephalitis with reversible splenial lesion. Moreover, rapid clinical recovery and the progressive improvement of psychiatric symptoms after deep sedation with propofol in this case-considering propofol's neuroprotective and anti-inflammatory effects-supports the notion of propofol-mediated deep sedation for the treatment of severe manic symptoms associated with life-threatening conditions. Little is known about neural markers of the manic state, and the corpus callosum has been described to be involved in bipolar disorder. Abnormalities in this structure may represent a marker of vulnerability for this disorder.

Upper camptocormia in Parkinson's disease: Neurophysiological and imaging findings of both central and peripheral pathophysiological mechanisms.

BACKGROUND: Camptocormia is a disabling complication of Parkinson's disease (PD), but its pathophysiology is poorly elucidated. Depending on the fulcrum of forward trunk flexion, two subtypes have been defined, upper (UCC) and lower camptocormia, the former being much more frequent. The aim of the study was to explore possible pathophysiological mechanisms of PD-related UCC. METHODS: Ten PD patients with UCC (UCC-PD) and ten PD patients without camptocormia (NoUCC-PD) underwent simultaneous electromyography (EMG) of thoracic paraspinal (TPS), obliquus externus abdominis (OEA), rectus abdominis (RA), and iliopsoas (IP) muscles during relaxed standing (both groups) and trunk realignment (UCC-PD group). Quantitative EMG and magnetic resonance imaging (MRI) of TPS muscles were also performed. RESULTS: UCC-PD patients showed hyperactivity of TPS and OEA muscles in quiet stance. During voluntary trunk extension, hyperactivity of OEA muscles persisted, thus revealing a co-contraction of flexor and extensor trunk muscles. Motor unit potentials (MUP) of TPS muscles showed shorter duration (p = 0.005) and lower amplitude (p = 0.004) in UCC-PD than in NoUCC-PD patients. MRI did not detect significant between-group differences in the cross-sectional area and fat fraction of TPS muscles, although the latter was higher in the UCC-PD than in the NoUCC-PD group at all thoracic levels. CONCLUSION: Our findings suggest that hyperactivity of OEA might sustain UCC in PD. Concurrent mild myopathic changes in TPS muscles in PD with UCC may be secondary to muscle disuse but nevertheless may contribute to abnormal trunk posture.

A novel emerin gene mutation in Emery Dreifuss muscular dystrophy patient with spontaneous chordae tendinae rupture.

Emery Dreifuss muscular dystrophy (EDMD) is an inherited myopathy characterized by early contractures, slow progressive muscle weakness and cardiac involvement. To date at least seven genes have been associated to EDMD with different inheritance patterns, being emerin gene responsible for the X-linked form of the disease. We report a 40-year-old man who was referred for severe gait difficulty. At age 6 years the patient presented with a waddling gate, lumbar lordosis and heel contractures. Both electrophysiology and muscle biopsy were consistent with a neurogenic disorder and he received a diagnosis of spinal muscular atrophy type 3. At the age of 30 the patient developed heart involvement with junctional escape rhythm and, eight years later, had a spontaneous chordae tendinae rupture. A new clinical examination showed severe muscular weakness and atrophy in scapulohumeroperoneal pattern with significant involvement of the lower facial and intrinsic hand muscles and on a second muscle biopsy emerin was absent by immunohistochemistry and by immunoblot analysis. Sequence analysis of EMD gene revealed the presence of a novel mutation represented by an out-of-frame deletion spanning from the beginning of exon 1 to the half of intron 2 (p.Asp6Glyfs*27). Our study expands the clinical and molecular spectrum of X-linked EDMD.

A Child with Early-Onset Gorham-Stout Disease Complicated by Chylothorax: Near-Complete Regression of Bone Lesions with Interferon and Bisphosphonate Treatment.

We report a case of Gorham-Stout disease (GSD) complicated by chylothorax and treated with a combination therapy with interferon and bisphosphonates. This treatment may be helpful in improving the usually unfavorable prognosis of GSD beginning with a chylothorax before 1 year of age, and in reducing bone lesions. Moreover, the use of bisphosphonates appears to be useful in treating pain.

Cingulate abnormalities in bipolar disorder relate to gender and outcome: a region-based morphometry study [corrected].

Structural magnetic resonance imaging (MRI) studies reported gray matter (GM) loss in bipolar disorder (BD) in cingulate cortices, key regions subserving emotional regulation and cognitive functions in humans. The aim of this study was to further explore cingulate GM volumes in a sizeable group of BD patients with respect to healthy controls, particularly investigating the impact of gender and clinical variables. 39 BD patients (mean Age = 48.6 ± 9.7, 15 males and 24 females) and 39 demographically matched healthy subjects (mean Age = 47.9 ± 9.1, 15 males and 24 females) underwent a 1.5T MRI scan. GM volumes within the cingulate cortex were manually detected, including anterior and posterior regions. BD patients had decreased left anterior cingulate volumes compared with healthy controls (F = 6.7, p = 0.01). Additionally, a significant gender effect was observed, with male patients showing reduced left anterior cingulate cortex (ACC) volumes compared to healthy controls (F = 5.1, p = 0.03). Furthermore, a significant inverse correlation between right ACC volumes and number of hospitalizations were found in the whole group of BD patients (r = - 0.51, p = 0.04) and in male BD patients (r = - 0.88, p = 0.04). Finally, no statistically significant correlations were observed in female BD patients. Our findings further confirm the putative role of the ACC in the pathophysiology of BD. Interestingly, this study also suggested the presence of gender-specific GM volume reductions in ACC in BD, which may also be associated to poor outcome.

Correction to: Cingulate abnormalities in bipolar disorder relate to gender and outcome: a region-based morphometry study.

In the original publication of the article, the title was incorrect. The correct title should read as given below.

Primary sphenoid lymphoma: Focus on imaging.

Primary lymphoma of the sphenoid is an extremely rare pathology, therefore it is difficult to hypothesize and the imaging characteristics are not well-known. Here we report the imaging features in computed tomography (CT), magnetic resonance imaging (MRI), and positron emission tomography (PET) scan of a 44-year-old patient who presented with severe headache. CT and MRI showed a sphenoid sinus mass that suggested rhinopharyngeal lesion or a chordoma. However, biopsy from the mass histologically proved it to be Diffuse large B-cell lymphoma and PET examinations revealed increased fluorodeoxyglucose uptake around the sphenoid bone and multiple spinal lesions.

Sleep-Disordered Breathing in Children with Rare Skeletal Disorders: A Survey of Clinical Records.

OBJECTIVE: Craniofacial disharmony in skeletal diseases is strongly associated with sleep-disordered breathing. This study was aimed at studying the sleep respiratory patterns in young children with rare skeletal disorders. DESIGN: This retrospective study included children with achondroplasia (ACH), osteogenesis imperfecta (OI) and Ellis van Creveld Syndrome. Our subjects underwent an in-laboratory overnight respiratory polygraph between January 2012 and April 2016. All medical records were reviewed and brain Magnetic Resonance Imaging was conducted on patients with ACH, nasopharynx, oropharynx and laryngopharynx spaces. PATIENTS: Twenty-four children were enrolled, 13 with ACH, 2 with spondyloepiphyseal dysplasia, 1 with odontochondrodysplasia, 6 with OI and 2 with Ellis van Creveld Syndrome. RESULTS: Children with ACH, who had adenotonsillectomy, showed fewer sleep respiratory involvement than untreated children. Among 13 patients with ACH, brain magnetic resonance imaging was available in 10 subjects and significant negative correlation was found between sleep respiratory patterns, nasopharynx and oropharynx space (p < 0.05). In 2 patients with spondyloepiphyseal dysplasia, mild-to-moderate sleep respiratory involvement was found. Both subjects had a history of adenotonsillectomy. Mild sleep respiratory involvement was also observed in 4 out of 6 patients with OI. One patient with Ellis van Creveld syndrome had mild sleep respiratory disturbance. CONCLUSIONS: Sleep respiratory disturbances were detected in children with ACH, and with less severity also in OI and Ellis van Creveld syndrome. Adenotonsillectomy was successful in ACH in reducing symptoms. In light of our findings, multicenter studies are needed to obtain further information on these rare skeletal diseases.

Pituitary gland shrinkage in bipolar disorder: The role of gender.

BACKGROUND: Hyperactivity of the Hypothalamic-Pituitary-Adrenal Axis (HPAA) has been consistently reported in mood disorders. However, only few studies investigated the Pituitary gland (PG) in Bipolar Disorder (BD) and the results are so far contrasting. Therefore, the aim of this study is to explore the integrity of the PG as well as the role of gender and the impact of clinical measurements on this structure in a sample of BD patients compared to healthy controls (HC). METHODS: 34 BD patients and 41 HC underwent a 1.5 T MRI scan. PG volumes were manually traced for all subjects. Psychiatric symptoms were assessed by means of the Brief Psychiatry Rating Scale, the Hamilton Depression Rating Scale and the Bech Rafaelsen Mania Rating Scale. RESULTS: We found decreased PG volumes in BD patients compared to HC (F = 24.9, p < 0.001). Interestingly, after dividing the sample by gender, a significant PG volume decrease was detected only in female BD patients compared to female HC (F = 9.1, p < 0.001), but not in male BD compared to male HC (F = -0.12, p = 0.074). No significant correlations were observed between PG volumes and clinical variables. CONCLUSIONS: Our findings suggest that BD patients have decreased PG volumes, probably due to the long-term hyperactivity of the HPAA and to the consequent strengthening of the negative feedback control towards the PG volume itself. This alteration was particularly evident in females, suggesting a role of gender in affecting PG volumes in BD. Finally, the absence of significant correlations between PG volumes and clinical variables further supports that PG disruption is a trait feature of BD, being independent of symptoms severity and duration of treatment.

A diffusion weighted imaging study of basal ganglia in schizophrenia.

OBJECTIVES: Several magnetic resonance imaging (MRI) studies provided evidence of selective brain abnormalities in schizophrenia, both in cortical and subcortical structures. Basal ganglia are of particular interest, given not only the high concentration of dopaminergic neurons and receptors, but also for their crucial role in cognitive functions, commonly impaired in schizophrenia. To date, very few studies explored basal ganglia using diffusion imaging, which is sensitive to microstructural organization in brain tissues. The aim of our study is to explore basal ganglia structures with diffusion imaging in a sizeable sample of patients affected by schizophrenia and healthy controls. METHODS: We enrolled 52 subjects affected by schizophrenia according to DMS-IV-R criteria and 46 healthy controls. Diffusion weighted images were obtained using a 1.5 Tesla scanner and apparent diffusion coefficient (ADC) values were determined in axial and coronal sections at the level of basal ganglia. RESULTS: Patients affected by schizophrenia showed a significantly higher ADC compared to healthy controls in the left anterior lenticular nucleus (F = 3.9, p = .05). A significant positive correlation between right anterior lenticular nucleus and psychotropic dosages was found (r = 0.4, p = .01). CONCLUSIONS: Our study provides evidence of lenticular nucleus microstructure alterations in schizophrenia, potentially sustaining cognitive and motor deficits in schizophrenia. Key points The basal ganglia structures was explored with diffusion imaging in a sizeable sample of patients affected by schizophrenia and healthy controls. Patients affected by schizophrenia showed a significantly higher ADC compared to healthy controls in the left anterior lenticular nucleus. Our study provides evidence of lenticular nucleus microstructure alterations in schizophrenia, potentially sustaining cognitive and motor deficits in schizophrenia.

Diffusion imaging study of the Corpus Callosum in bipolar disorder.

Structural and diffusion imaging studies have provided some evidence of abnormal organization of Corpus Callosum (CC) in Bipolar Disorder (BD). Therefore, by using Diffusion Weighted Imaging (DWI), which allows to build subtle prediction models of fiber integrity for white matter (WM) tracts, this study aims to further explore the microstructure integrity of CC in BD patients compared to matched healthy controls. Twenty-four chronic patients with BD and 35 healthy controls were included in the study. Circular regions of interest were placed, on diffusion images, in the left and right side of callosal regions (i.e. rostrum/genu, anterior body, posterior body, splenium) and the Apparent Diffusion Coefficient (ADC) was then calculated. Significantly increased ADC values were found in right anterior body and in right splenium in BD patients compared to healthy controls (all p < 0.05, Bonferroni corrected). In this study, we found abnormally increased ADC callosal values in BD suggesting microstructural anomalies specifically in the right hemisphere. Interestingly, this finding further supports the presence of an altered inter-hemispheric communication between frontal and temporo-parietal association areas in patients with BD, which may ultimately result in clinical symptoms and cognitive deficits.

Potential Gender-Related Aging Processes Occur Earlier and Faster in the Vermis of Patients with Bipolar Disorder: An MRI Study.

BACKGROUND: In the last decades, there has been increasing interest in investigating the role of the vermis in bipolar disorder (BD), especially because of its involvement in cognitive processes. The main aims of this study were to explore the integrity of the vermis and elucidate the role of demographic and clinical variables on vermis volumes in BD patients, stratified according to gender. METHODS: T1-weighted images were obtained for 38 BD patients and 38 healthy controls using a 1.5-T MRI scanner. Images were analyzed with a PC workstation with BRAINS2 software on a Linux system. Anatomical regions were traced manually from a blinded operator, with respect to subject identity and other clinical variables. RESULTS: The direct comparison between the 2 groups showed no significant gray matter differences in vermis volumes. Interestingly, vermis volumes were significantly inversely associated with chronological age and age of BD onset, particularly in male subjects. CONCLUSIONS: Our study provides evidence of the impact of aging on the vermis in BD, potentially related to earlier and faster gender-related neurodegenerative phenomena occurring during the progression of the disease.

Similar white matter changes in schizophrenia and bipolar disorder: A tract-based spatial statistics study.

Several strands of evidence reported a significant overlapping, in terms of clinical symptoms, epidemiology and treatment response, between the two major psychotic disorders-Schizophrenia (SCZ) and Bipolar Disorder (BD). Nevertheless, the shared neurobiological correlates of these two disorders are far from conclusive. This study aims toward a better understanding of possible common microstructural brain alterations in SCZ and BD. Magnetic Resonance Diffusion data of 33 patients with BD, 19 with SCZ and 35 healthy controls were acquired. Diffusion indexes were calculated, then analyzed using Tract-Based Spatial Statistics (TBSS). We tested correlations with clinical and psychological variables. In both patient groups mean diffusion (MD), volume ratio (VR) and radial diffusivity (RD) showed a significant increase, while fractional anisotropy (FA) and mode (MO) decreased compared to the healthy group. Changes in diffusion were located, for both diseases, in the fronto-temporal and callosal networks. Finally, no significant differences were identified between patient groups, and a significant correlations between length of disease and FA and VR within the corpus callosum, corona radiata and thalamic radiation were observed in bipolar disorder. To our knowledge, this is the first study applying TBSS on all the DTI indexes at the same time in both patient groups showing that they share similar impairments in microstructural connectivity, with particular regards to fronto-temporal and callosal communication, which are likely to worsen over time. Such features may represent neural common underpinnings characterizing major psychoses and confirm the central role of white matter pathology in schizophrenia and bipolar disorder.

Sexual dimorphism of the planum temporale in schizophrenia: A MRI study.

OBJECTIVE: Anatomical alterations in the superior temporal gyrus have been consistently reported in patients with schizophrenia, and they have mostly been linked to positive symptoms, including hallucinations and thought disorders. The superior temporal gyrus is considered one of the most asymmetric and lateralized structure of the human brain, and the process of lateralization seems to vary according to gender in the normal population. However, although it has been consistently suggested that patients with schizophrenia did not show normal brain lateralization in several regions, only few studies investigated it in the superior temporal gyrus and its sub-regions considering the effects of gender. In this context, the aim of this study was to evaluate sexual dimorphism in superior temporal gyrus volumes in a sample of patients with schizophrenia compared to age- and gender-matched healthy controls. METHODS: A total of 72 right/left-handed males (40 schizophrenia patients and 32 healthy controls) and 45 right/left-handed females (18 schizophrenia patients and 27 healthy controls) underwent clinical evaluation and a 1.5T magnetic resonance imaging scan. Gray and white matter volumes of regions of interest within the superior temporal gyrus were manually detected, including the Heschl's gyrus and the planum temporale. RESULTS: Female patients with schizophrenia presented a reduction in left planum temporale gray matter volumes ( F = 4.58, p = 0.03) and a lack of the normal planum temporale asymmetry index ( t = 0.27; p = 0.79) compared to female controls ( t = 5.47; p = 0.001). No differences were found between males for any volumes or laterality indices. Finally, in female patients with schizophrenia, Heschl's gyrus gray and white matter volumes negatively correlated with positive symptoms ( r = -0.56, p = 0.01). CONCLUSION: Our results showed that sexual dimorphism plays a key role on planum temporale in schizophrenia, underlining the importance of gender as a modulator of brain morphology and lateralization of schizophrenia.

Brain anatomy of symptom stratification in schizophrenia: a voxel-based morphometry study.

BACKGROUND: Although some Magnetic Resonance Imaging (MRI) studies have investigated the relationship between clinical severity and neuroanatomical alterations in patients with schizophrenia (SCZ), the biological signature associated with illness severity in schizophrenia is still uncertain. Therefore, this study aims to investigate structural brain abnormalities in SCZ, with particular regards to the identification of potential deficits associated with the severity of illness. METHODS: In total, 1.5T MRI data were acquired for 61 subjects with SCZ and 59 matched healthy controls (HC). The patient group was divided in two sub-groups based on clinical severity, one composed of 34 mild-to-moderately ill patients, and the other of 27 severely ill patients, and compared with matched HC. RESULTS: The whole group of patients with SCZ had significantly reduced grey matter (GM) volumes in the left inferior and middle temporal gyrus compared to HC (p < 0.05, pFWE corrected). Furthermore, compared to HC, patients with mild-to-moderate illness showed decreased GM volumes in the inferior and middle temporal gyrus, whereas those with severe illness had reduced GM volumes in the middle temporal gyrus and cerebellum bilaterally (all p < 0.001 uncorrected). No differences were observed between the two sub-groups of patients. CONCLUSION: The results showed significant GM volume reductions in temporal regions in patients with SCZ compared to matched HC, confirming the role of these regions in the pathophysiology of SCZ. Furthermore, specific cerebellar grey matter volume reductions were identified in patients with severe illness, which may contribute to stratifying patients with SCZ according to their clinical phenotype expression, ultimately helping in guiding targeted therapeutic/rehabilitation interventions.

Hyaluronic acid: in vitro and in vivo analysis, biochemical properties and histological and morphological evaluation of injected filler.

BACKGROUND: No human model has emerged as an accepted standard to evaluate tissue filler longevity. OBJECTIVES: To validate a human model adequate to compare soft tissue filler degradation and tissue reaction. MATERIALS AND METHODS: We evaluated in 18 patients the persistence of hyaluronic acid (HA) filler injected into labial tissue analyzing hyaluronidase (HYAL) activity by means of in vitro and in vivo tests, MRI and histological and ultra-structural examination at 3 and 6 months postop. RESULTS: MRI examination revealed the presence of HA filler in a clear hyperintense area. Histology demonstrated fibroblast activation. The amount and the degradation rate of HYAL and HA did not show a linear correlation. CONCLUSION: MRI demonstrated the presence of HA in lip tissue even after 6 months. Biopsies at 3 months revealed tissue maturation and at 6 months confirmed the ability of HA to reorganize and integrate the extracellular matrix. The absence of linear correlation between HYAL and HA revealed that the result clinically is probably dependent on systemic factors which can determine HYAL activity and therefore HA longevity.