Basal cell nevus syndrome: clinical and molecular review and case report

Basal cell nevus syndrome (BCNS), also referred to as nevoid basal cell carcinoma syndrome or Gorlin–Goltz syndrome, was first described by Gorlin and Goltz in 1960 as an autosomal dominant disorder characterized by the early appearance of multiple basal cell carcinomas (BCCs), keratocysts of the jaw, ectopic calcifications, palmar and plantar pits, and anomalies of the ocular, skeletal, and reproductive systems. The genesis of this cancer's etiology in relation to BCNS was unclear until a few years ago when molecular analysis studies suggested a relationship between BCC and the loss‐of‐function mutations of the patched gene (PTCH) found on chromosome arm 9q. PTCH inhibits signaling by the membrane protein Smoothened (Smo), and this inhibition is relieved by binding sonic hedgehog (SHH) to PTCH. We describe a patient with multiple BCCs associated with x‐ray anomalies of BCNS and review the basis of the SHH signaling pathway and clinical aspects of BCNS.     

Alien limb phenomenon following posterior cerebral artery stroke: a distinct clinical entity

Journal of Neurology - Alien limb syndrome following stroke within the territory of the posterior cerebral artery is exceedingly rare. A right-handed female experienced left homonymous hemianopia,...     

Identification of the chromosome 14 origin of a C-negative marker associated with a 14q32 deletion by chromosome painting

A constitutional chromosome 14 rearrangement was observed in a female with a psychodevelopmental disorder. Karyotype analysis using a variety of chromosome techniques, QFQ, GTG, CBG, Ag-NOR and DA-DAPI, showed a deletion of chromosome 14q32.1-qter region in association with a supernumerary marker chromosome. The marker, resembling a submetacentric, approximately half the size of a G group chromosome is C band and Ag-NOR negative. The heteromorphism of the satellites showed that the deleted chromosome 14 is paternal in origin. Chromosome painting using an Alu-PCR probe specific for the human chromosome 14 and fluorescent in situ hybridization (FISH) showed that the marker contains chromosome 14q32 sequences. It is likely that the marker was generated from the deleted chromosome 14 region through a complex rearrangement.     

Probing the face-space of individuals with prosopagnosia

A useful framework for understanding the mental representation of facial identity is face-space (Valentine, 1991), a multi-dimensional cognitive map in which individual faces are coded relative to the average of previously encountered faces, and in which the distance among faces represents their perceived similarity. We examined whether individuals with prosopagnosia, a disorder characterized by an inability to recognize familiar faces despite normal visual acuity and intellectual abilities, evince behavior consistent with this underlying representational schema. To do so, we compared the performance of 6 individuals with congenital prosopagnosia (CP), with a group of age- and gender-matched control participants in a series of experiments involving judgments of facial identity. We used digital images of male and female faces and morphed them to varying degrees relative to an average face, to create caricatures, anti-caricatures, and anti-faces (i.e. faces of the opposite identity). Across 5 behavioral tasks, CP individuals’ performance was similar to that of the control group and consistent with the face-space framework. As a test of the sensitivity of our measures in revealing face processing abnormalities, we also tested a single acquired prosopagnosic (AP) individual, whose performance on the same tasks deviated significantly from the control and CP groups. The findings suggest that, despite an inability to recognize individual identities, CPs perceive faces in a manner consistent with norm-based coding of facial identity, although their representation is likely supported by a feature-based strategy. We suggest that the apparently normal posterior cortical regions, including the fusiform face area, serve as the neural substrate for at least a coarse, feature-based face-space map in CP and that their face recognition impairment arises from the disconnection between these regions and more anterior cortical sites.     

Double-blind,proof-of-concept (POC) trial of Low-Field Magnetic Stimulation (LFMS) augmentation of antidepressant therapy in treatment-resistant depression (TRD)

Background

Low-Field Magnetic Stimulation (LFMS) is a novel, non-invasive, sub-threshold neuromodulation technique, shown in preliminary studies to have immediate mood elevating effects in both unipolar and bipolar depressed patients.

The effect of pelvic floor muscle training and intravaginal electrical stimulation on urinary incontinence in women with incomplete spinal cord injury: an investigator-blinded parallel randomized clinical trial

Introduction and hypothesis

Urinary incontinence is a prevalent problem in women with spinal cord injury. The aim of this study was to examine the effect of pelvic floor muscle training (PFMT) alone and combined with intravaginal electrical stimulation (IVES) on urinary incontinence in women with incomplete spinal cord injury.

Methods

In this investigator-blinded randomized clinical trial, we recruited women aged 18–75 with incomplete spinal cord injury and urinary incontinence from a single spinal cord injury clinic in Denmark. Women were randomly assigned to either PFMT or PFMT combined with IVES daily at home for 12 weeks. All women were trained by a physiotherapist using vaginal palpation and electromyography biofeedback. Outcome measures were recorded at baseline (week 0), post-intervention (week 12) and follow-up (week 24) and included change in the total score on the International Consultation on Incontinence Questionnaire urinary incontinence short form (ICIQ-UI-SF) and daily episodes of urinary incontinence.

Results

From 27 April 2015?9 September 2016, we randomly assigned 36 women (17 in the PFMT group and 19 in the PFMT+IVES group); 27 completed the interventions (13 in the PFMT group and 14 in the PFMT+IVES group). The results showed no difference between the groups on ICIQ-UI-SF or episodes of urinary incontinence at 12 and 24 weeks. Only the PFMT group had a significant change from baseline on ICIQ-UI-SF [?2.4 (95% CI -4.3??0.5), p?=?0.018] and daily episodes of urinary incontinence [?0.4 (95% CI -0.8??0.1), p?=?0.026] at 12 weeks.

Conclusions

PFMT+IVES is not superior to PFMT alone in reducing urinary incontinence in women with incomplete spinal cord injury.

     

Clinically inapparent status epilepticus as a cause of coma in the critically ill

Three adult patients presenting to the intensive care unit (ICU) with metabolic encephalopathy are described. Despite the absence of clinical signs of status epilepticus, this diagnosis was made on the basis of electroencephalographic recording and when effectively treated with anticonvulsant therapy, associated stupor or coma resolved. Duration of mechanical ventilation, intubation, and ICU stay were substantially shortened by this recognition and subsequent therapy. The inclusion of status epilepticus in the differential diagnosis of coma and stupor in the critically ill adult patient is emphasized.     

Coronary artery stenosis: direct comparison of four-section multi-detector row CT and 3D navigator MR imaging for detection--initial results

PURPOSE: To prospectively compare the diagnostic accuracy of multi-detector row computed tomography (CT) and of three-dimensional (3D) navigator magnetic resonance (MR) imaging in patients referred for conventional coronary angiography for detection of coronary artery stenosis. MATERIALS AND METHODS: All patients gave written informed consent for the study, which was approved by the local ethics committee. Twenty-seven patients underwent multi-detector row CT and 3D navigator free-breathing MR imaging a mean of 5 days before undergoing invasive coronary angiography. The acquired multi-detector row CT and MR images were graded for the presence of greater than 50% stenosis in vessels larger than 1.5 mm in diameter. The diagnostic accuracies of the two examinations were compared with that of quantitative coronary angiography (QCA) by using the McNemar test. RESULTS: Owing to claustrophobia, MR images were not acquired in one patient; thus, 26 patients were included for analysis. According to QCA findings, 21 of the 26 patients had significant coronary artery disease and 58 (20%) of a total of 294 coronary artery segments larger than 1.5 mm in diameter had significant (>50%) stenosis. Multi-detector row CT had significantly higher sensitivity (46 [79%] of 58 segments) than MR imaging (36 [62%] segments, P < .05) for detection of segments with significant stenosis. Conversely, MR imaging had significantly higher specificity (198 [84%] of 236 segments) than did CT (168 [71%] segments, P < .001) for exclusion of segmental coronary artery stenosis. Both examinations had high negative predictive value for exclusion of segmental stenosis: 93% (168 of 180 segments) for CT and 90% (198 of 220 segments) for MR imaging. The overall diagnostic accuracy of MR imaging (80% [234 of 294 segments]) was significantly higher than that of CT (73% [214 segments], P < .05). CONCLUSION: MR imaging had significantly higher diagnostic accuracy than multi-detector row CT in the evaluation of coronary artery stenosis. Both techniques have high negative predictive value, making them particularly useful for ruling out coronary artery disease in symptomatic patients.     

Usefulness of 40-slice multidetector row computed tomography to detect coronary disease in patients prior to cardiac valve surgery

Preoperative identification of significant coronary artery disease (CAD) in patients prior to valve surgery requires systematic invasive coronary angiography. The purpose of this current prospective study was to evaluate whether exclusion of CAD by multi-detector CT (MDCT) might potentially avoid systematic cardiac catheterization in these patients. Eighty-two patients (53 males, 62 ± 13 years) scheduled to undergo valve surgery underwent 40-slice MDCT before invasive quantitative coronary angiography (QCA). According to QCA, 15 patients had CAD (5 one-vessel, 6 two-vessel and 4 three-vessel disease). The remaining 67 patients had no CAD. On a per-vessel basis, MDCT correctly identified 27/29 (sensitivity 93%) vessels with and excluded 277/299 vessels (specificity 93%) without CAD. On a per-patient basis, MDCT correctly identified 14/15 patients with (sensitivity 93%) and 60/67 patients without CAD (specificity 90%). Positive and negative predictive values of MDCT were 67% and 98%. Performing invasive angiography only in patients with abnormal MDCT might have avoided QCA in 60/82 (73%). MDCT could be potentially useful in the preoperative evaluation of patients with valve disease. By selecting only those patients with coronary lesions to undergo invasive coronary angiography, it could avoid cardiac catheterization in a large number of patients without CAD. This work was supported by a grant of the Fondation Nationale de la Recherche Scientifique of the Belgian Government (FRSM 3.4557.02). Dr. Pouleur is supported by a personal grant of the Fondation Nationale de la Recherche Scientifique of the Belgian Government.