Zinc is a trace element essential to the gastrointestinal, immune, integumentary, reproductive, and central nervous systems. Zinc deficiency is prevalent in many areas of the world and is a ...diagnostically challenging condition. Cutaneous manifestations typically occur in moderate to severe zinc deficiency and present as alopecia and dermatitis in the perioral, acral, and perineal regions. Zinc deficiency is a potentially fatal disease process. The aim of this review is to focus on the cutaneous manifestations, diagnosis, and treatment of zinc deficiency in children, and to propose an etiologic classification system.
To better understand the effects of short-term computer-based cognitive rehabilitation (cCR) on cognitive performances and default mode network (DMN) intrinsic functional connectivity (FC) in ...cognitively impaired relapsing remitting (RR) multiple sclerosis (MS) patients. Eighteen cognitively impaired RRMS patients underwent neuropsychological evaluation by the Rao’s brief repeatable battery and resting-state functional magnetic resonance imaging to evaluate FC of the DMN before and after a short-term (8 weeks, twice a week) cCR. A control group of 14 cognitively impaired RRMS patients was assigned to an aspecific cognitive training (aCT), and underwent the same study protocol. Correlations between DMN and cognitive performances were also tested. After cCR, there was a significant improvement of the following tests: SDMT (
p
< 0.01), PASAT 3″ (
p
< 0.00), PASAT 2″ (
p
< 0.03), SRT-D (
p
< 0.02), and 10/36 SPART-D (
p
< 0.04); as well as a significant increase of the FC of the DMN in the posterior cingulate cortex (PCC) and bilateral inferior parietal cortex (IPC). After cCR, a significant negative correlation between Stroop Color–Word Interference Test and FC in the PCC emerged. After aCT, the control group did not show any significant effect either on FC or neuropsychological tests. No significant differences were found in brain volumes and lesion load in both groups when comparing data acquired at baseline and after cCR or aCT. In cognitively impaired RRMS patients, cCR improves cognitive performances (i.e., processing speed and visual and verbal sustained memory), and increases FC in the PCC and IPC of the DMN. This exploratory study suggests that cCR may induce adaptive cortical reorganization favoring better cognitive performances, thus strengthening the value of cognitive exercise in the general perspective of building either cognitive or brain reserve.
FOG is a troublesome symptom of PD. Despite growing evidence suggesting that FOG in PD may be associated with cognitive dysfunction, the relationship between regional brain atrophy and FOG has been ...poorly investigated.
Optimized VBM was applied to 3T brain MR images of 24 patients with PD and 12 HC. Patients were classified as either FOG- or FOG+ (n = 12) based on their responses to a validated FOG Questionnaire and clinical observation. All patients with PD also underwent a detailed neuropsychological evaluation.
The VBM analysis in patients with FOG+ showed a reduced GM volume in the left cuneus, precuneus, lingual gyrus, and posterior cingulate cortex compared with both patients with FOG- and HC. We did not detect any significant change of GM volume when comparing HC versus all patients with PD (FOG- and FOG+). FOG clinical severity was significantly correlated with GM loss in posterior cortical regions. Finally, patients with FOG+ scored lower on tests of frontal lobe function.
Our findings provide the first evidence that the development of FOG in patients with PD is associated with posterior GM atrophy, which may play a role in the complex pathophysiology of this disabling symptom.
Background and purpose
In multiple sclerosis (MS), depression is a common disorder whose pathophysiology is still debated. To gain insights into the pathophysiology of depression in MS, resting‐state ...(RS) functional connectivity (FC) changes of the default mode network (DMN), salience network (SN) and executive control network (ECN) were assessed in a group of depressed MS (D‐MS) patients and in appropriately matched control groups.
Methods
Sixteen D‐MS patients, 17 non‐depressed MS (ND‐MS) patients, 17 non‐depressed healthy controls and 15 depressed subjects (D‐S), age, sex and education matched, cognitively preserved and non‐fatigued, were enrolled. All participants underwent a neuropsychological evaluation and RS functional magnetic resonance imaging study.
Results
Comparing D‐MS patients with D‐S, within the DMN, a significant RS‐FC suppression was found in the posterior cingulate cortex (PCC); comparing D‐MS with ND‐MS, FC was significantly increased in the anterior cingulate cortex and significantly reduced in the PCC. Within the SN increased FC in the right supramarginal gyrus and right middle frontal gyrus was found in D‐MS patients compared to D‐S and to ND‐MS; within the ECN increased FC in the right inferior parietal cortex was found in D‐MS patients compared to ND‐MS patients.
Conclusions
In cognitively preserved D‐MS patients, FC derangement occurs in the SN, ECN and DMN. In the latter, changes occurring both in the anterior cingulate cortex and PCC suggest that depression in MS may be linked to MS itself and, in particular, to a peculiar pattern of network abnormalities favored by MS pathology through disconnection mechanisms. Reduced FC in the PCC, similar to MS patients with cognitive impairment, suggests a functional link between depression and cognitive impairment in MS.
Cognitive disorders occur in up to 65 % of multiple sclerosis (MS) patients; they have been correlated with different MRI measures of brain tissue damage, whole and regional brain atrophy. The ...hippocampal involvement has been poorly investigated in cognitively impaired (CI) MS patients. The objective of this study is to analyze and compare brain tissue abnormalities, including hippocampal atrophy, in relapsing–remitting MS (RRMS) patients with and without cognitive deficits, and to investigate their role in determining cognitive impairment in MS. Forty-six RRMS patients 20 CI and 26 cognitively preserved (CP) and 25 age, sex and education-matched healthy controls (HCs) underwent neuropsychological evaluation and 3-Tesla anatomical MRI. T2 lesion load (T2-LL) was computed with a semiautomatic method, gray matter volume and white matter volume were estimated using SIENAX. Hippocampal volume (HV) was obtained by manual segmentation. Brain tissues volumes were compared among groups and correlated with cognitive performances. Compared to HCs, RRMS patients had significant atrophy of WM, GM, left and right Hippocampus (
p
< 0.001). Compared to CP, CI RRMS patients showed higher T2-LL (
p
= 0.02) and WM atrophy (
p
= 0.01). In the whole RRMS group, several cognitive tests correlated with brain tissue abnormalities (T2-LL, WM and GM atrophy); only verbal memory performances correlated with left hippocampal atrophy. Our results emphasize the role of T2-LL and WM atrophy in determining clinically evident cognitive impairment in MS patients and provide evidence that GM and hippocampal atrophy occur in MS patients regardless of cognitive status.
The extensive application of advanced MR imaging techniques has undoubtedly improved our knowledge of the pathophysiology of amyotrophic lateral sclerosis. Nevertheless, the precise extent of ...neurodegeneration throughout the central nervous system is not fully understood. In the present study, we assessed the spatial distribution of cortical damage in amyotrophic lateral sclerosis by using a cortical thickness measurement approach.
Surface-based morphometry was performed on 20 patients with amyotrophic lateral sclerosis and 18 age- and sex-matched healthy control participants. Clinical scores of disability and disease progression were correlated with measures of cortical thickness.
The patients with amyotrophic lateral sclerosis showed a significant cortical thinning in multiple motor and extramotor cortical areas when compared with healthy control participants. Gray matter loss was significantly related to disease disability in the left lateral orbitofrontal cortex (P = .04), to disease duration in the right premotor cortex (P = .007), and to disease progression rate in the left parahippocampal cortex (P = .03).
Cortical thinning of the motor cortex might reflect upper motor neuron impairment, whereas the extramotor involvement seems to be related to disease disability, progression, and duration. The cortical pattern of neurodegeneration depicted resembles what has already been described in frontotemporal dementia, thereby providing further structural evidence of a continuum between amyotrophic lateral sclerosis and frontotemporal dementia.
Diffusion tensor imaging (DTI) has become a useful tool for investigating early white matter (WM) abnormalities in motor neuron disease. Furthermore, fiber tracking packages that apply ...multi-tensorial algorithms, such as q-ball imaging (QBI), have been proposed as alternative approaches to overcome DTI limitations in depicting fiber tracts with different orientations within the same voxel. We explored motor and extra-motor WM tract abnormalities in phenotypically heterogeneous amyotrophic lateral sclerosis (ALS) cases aiming to establish a consistent QBI-based WM signature of disease. We performed a whole-brain, QBI tract-based spatial statistics analysis with deterministic tractography of genu, body and splenium of corpus callosum (CC) and corticospinal tracts (CST) in 20 ALS patients (12 classical and 8 lower motor neuron variants) compared to 20 healthy controls. Mean tract length, fiber volume and density, and generalized fractional anisotropy were extracted and related to clinical indices of pyramidal impairment (upper motor neuron score), disease disability (ALS functional rating scale-revised) and progression. ALS patients showed significantly decreased fiber density and volume, and increased tract length in all regions of CC and left CST (
p
< 0.05, corrected). In CC body, pyramidal impairment was inversely correlated to fiber density (
p
= 0.01), while in CC splenium, clinical disability (
p
= 0.01) and progression (
p
= 0.02) were inversely correlated to tract length. Our findings further suggest that QBI tractography might represent a promising approach for investigating structural alterations in neurodegenerative diseases and confirm that callosal involvement is a consistent feature of most ALS variants, significantly related to both pyramidal dysfunction and disease disability.
Using resting-state (RS) fMRI, we investigated the functional integrity of the default-mode network (DMN) in cognitively unimpaired patients with Parkinson disease (PD).
RS fMRI at 3 T was collected ...in 16 cognitively unimpaired patients with PD and 16 age- and gender-matched healthy controls. Single-subject and group-level independent component analysis was used to investigate differences in functional connectivity within the DMN in patients with PD and healthy controls. Statistical analysis was performed using BrainVoyager QX. In addition, we used voxel-based morphometry to test whether between-group differences in RS functional connectivity were related to structural abnormalities.
Patients with PD compared with controls showed a decreased functional connectivity of the right medial temporal lobe and bilateral inferior parietal cortex within the DMN. Although patients with PD were cognitively unimpaired, the decreased DMN connectivity significantly correlated with cognitive parameters but not with disease duration, motor impairment, or levodopa therapy. The analysis of regional volume differences did not reveal any differences in local gray matter between patients and controls.
Our findings revealed a functional disruption of the DMN in cognitively unimpaired patients with PD, in the absence of significant structural differences between patients and controls. We hypothesize that a dysfunction of the DMN connectivity may have a role in the development of cognitive decline in PD.
Camptodactyly is a condition characterized by a nontraumatic, fixed flexion contracture at the proximal interphalangeal joint, typically involving the fifth finger. Most occurrences are sporadic, but ...autosomal dominant transmission and syndromic associations have been described in the literature. We describe the case of an adolescent boy who presented to our clinic with a 2‐year history of bilateral, nonsyndromic camptodactyly and knuckle pads.
Background:
The incidence of melanoma continues to rise in the developed world. It is therefore essential for primary care practitioners (PCPs) to be able to discriminate between malignant and benign ...cutaneous findings, as most patients present to PCPs first for examination of suspicious lesions.
Objective:
To compare dermatologists and PCPs in the diagnosis of malignant melanoma.
Methods:
Prospective studies published from January 1950 to August 2010 in MEDLINE, EMBASE, CINAHL, and CancerLit databases were examined. Relevant medical search terms, discussed amongst the authors, were entered into the databases. Only articles comparing dermatologists and PCPs in the diagnosis of malignant melanoma were selected.
Results:
Dermatologists were reported as having sensitivities, specificities, and diagnostic accuracies ranging from 0.74 to 1.00, 0.56 to 0.95, and 0.85 to 0.89, respectively. PCPs had sensitivities, specificities, and diagnostic accuracies ranging from 0.25 to 0.88, 0.26 to 0.71, and 0.49 to 0.80, respectively.
Conclusions:
PCPs should receive more training to improve their ability in the diagnosis of malignant melanoma.
Contexte:
La fréquence du mélanome est en hausse continue dans les pays développés. Dans ce contexte, il est essentiel que les médecins de premier recours (MPR) puissent distinguer les lésions cutanées malignes des lésions cutanées bénignes, étant donné que la plupart des patients consultent d'abord un MPR pour l'examen des lésions douteuses.
Objectif:
L'étude visait à comparer les dermatologues et les MPR dans le diagnostic du mélanome malin.
Méthode:
Nous avons procédé à un examen d'études prospectives, publiées de janvier 1950 à août 2010, dans les bases de données MEDLINE, EMBASE, CINAHL, et CancerLit. Les termes d'interrogation médicaux pertinents, ayant fait l'objet de discussion parmi les auteurs, ont été inscrits dans les bases de données. Seuls les articles dans lesquels il y avait une comparaison entre dermatologues et MPR dans le diagnostic du mélanome malin ont été sélectionnés.
Résultats:
La sensibilité, la spécificité, et la précision du diagnostic parmi les dermatologues variaient de 0.74 à 1.00, de 0.56 à 0.95, et de 0.85 à 0.89, respectivement, tandis que la sensibilité, la spécificité, et la précision du diagnostic parmi les MPR variaient 0.25 à 0.88, de 0.26 à 0.71, et de 0.49 à 0.80, respectivement.
Conclusion:
Les MPR devraient recevoir plus de formation afin d'améliorer leur capacité de diagnostic du mélanome malin.
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