Pediatric Limb Asymmetry: A Unique Presentation of Angioosteohypertrophic Syndrome.

Parks-Weber syndrome (PWS), also known as Klippel-Trenaunay-Weber syndrome, is a rare congenital bone vascular syndrome first described in 1900. It is characterized by arteriovenous malformations in a limb, leading to disproportionate limb growth and potential heart failure. Unlike Klippel-Trenaunay syndrome, PWS manifests arteriovenous malformations with abnormal connections between the arteries and veins of the affected limb. The management of this syndrome, similar to that of Klippel-Trenaunay syndrome, relies mainly on symptomatic treatment. We report the first case of angioosteohypertrophic syndrome diagnosed at CHU Med VI Oujda, in a patient aged seven years and eight months. This syndrome manifested primarily in the right upper limb, characterized by asymmetry in both upper limbs, thermal disparity, a cutaneous nevus, and venous ectasia in the right arm. The diagnosis was further substantiated through arteriography, confirming the presence of an arteriovenous fistula.

Undiagnosed Epileptic Case Since Childhood of Sturge-Weber Syndrome: First Case Report from Somalia.

Sturge-Weber syndrome is a rare, sporadic, progressive neurocutaneous condition that presents with congenital hamartomatous malformations, epilepsy, and a variety of facial symptoms. We discussed a rare case of an eighteen-year-old female child who came to our neurology department with status epilepticus, mental impairment, and a port-wine in the lateral left side of her face. We diagnosed Sturge-Weber syndrome after a thorough neurological and radiological evaluation. The purpose of presenting this case is to illustrate both the characteristic presentation and the complications associated with managing Sturge-Weber syndrome.

Similarities and differences between brain and skin GNAQ p.R183Q driven capillary malformations.

Capillary malformations (CM) are congenital vascular irregularities of capillary and venous blood vessels that appear in the skin, leptomeninges of the brain, and the choroid of the eye in the disorder known as Sturge Weber Syndrome (SWS). More common are non-syndromic CM found only in the skin, without brain or ocular involvement. A somatic activating mutation in GNAQ (p.R183Q) is found in ~90% of syndromic and non-syndromic CM specimens and is present in CD31pos endothelial cells isolated from brain and skin CM specimens. Endothelial expression of the GNAQ p.R183Q variant is sufficient to form CM-like vessels in mice. Given the distinct features and functions of blood vessels in the brain versus the skin, we examined the features of CM vessels in both tissues to gain insights into the pathogenesis of CM. Herein, we present morphologic characteristics of CM observed in specimen from brain and skin. The GNAQ p.R183Q variant allelic frequency in each specimen was determined by droplet digital PCR. Sections were stained for endothelial cells, tight junctions, mural cells, and macrophages to assess the endothelium as well as perivascular constituents. CM blood vessels in brain and skin were enlarged, exhibited fibrin leakage and reduced zona occludin-1, and were surrounded by MRC1pos/LYVE1pos macrophages. In contrast, the CMs from brain and skin differ in endothelial sprouting activity and localization of mural cells. These characteristics might be helpful in the development of targeted and/or tissue specific therapies to prevent or reverse non-syndromic and syndromic CM.

ACR Appropriateness Criteria® Pulmonary Arteriovenous Malformation (PAVM): 2023 Update.

Pulmonary arteriovenous malformations (PAVMs) occur in 30% to 50% of patients with hereditary hemorrhagic telangiectasia. Clinical presentations vary from asymptomatic disease to complications resulting from the right to left shunting of blood through the PAVM such as paradoxical stroke, brain abscesses, hypoxemia, and cardiac failure. Radiology plays an important role both in the diagnosis and treatment of PAVM. Based on different clinical scenarios, the appropriate imaging study has been reviewed and is presented in this document. The American College of Radiology Appropriateness Criteria are evidence-based guidelines for specific clinical conditions that are reviewed annually by a multidisciplinary expert panel. The guideline development and revision process support the systematic analysis of the medical literature from peer reviewed journals. Established methodology principles such as Grading of Recommendations Assessment, Development, and Evaluation or GRADE are adapted to evaluate the evidence. The RAND/UCLA Appropriateness Method User Manual provides the methodology to determine the appropriateness of imaging and treatment procedures for specific clinical scenarios. In those instances where peer reviewed literature is lacking or equivocal, experts may be the primary evidentiary source available to formulate a recommendation.

Cerebrofacial venous metameric syndrome mimicking vein of Galen aneurysmal malformation.

Cerebrofacial venous metameric syndrome (CVMS) is a complex low-flow vascular malformation affecting bone and soft tissues, including brain, dura mater, and eye. We show images of CVMS in an 18-month-old boy presenting facial venous malformations, developmental venous anomalies, dural sinus malformations, and dilated great cerebral vein, suggesting a vein of Galen aneurysmal malformation. Although Sturge-Weber syndrome is the most known form of CVMS, its presentations are variable and include several venous malformations. Recognizing the various manifestations of CVMS is necessary for adequate screening, treatment, and follow-up.

A unified framework for perceived magnitude and discriminability of sensory stimuli.

The perception of sensory attributes is often quantified through measurements of sensitivity (the ability to detect small stimulus changes), as well as through direct judgments of appearance or intensity. Despite their ubiquity, the relationship between these two measurements remains controversial and unresolved. Here, we propose a framework in which they arise from different aspects of a common representation. Specifically, we assume that judgments of stimulus intensity (e.g., as measured through rating scales) reflect the mean value of an internal representation, and sensitivity reflects a combination of mean value and noise properties, as quantified by the statistical measure of Fisher information. Unique identification of these internal representation properties can be achieved by combining measurements of sensitivity and judgments of intensity. As a central example, we show that Weber's law of perceptual sensitivity can coexist with Stevens' power-law scaling of intensity ratings (for all exponents), when the noise amplitude increases in proportion to the representational mean. We then extend this result beyond the Weber's law range by incorporating a more general and physiology-inspired form of noise and show that the combination of noise properties and sensitivity measurements accurately predicts intensity ratings across a variety of sensory modalities and attributes. Our framework unifies two primary perceptual measurements-thresholds for sensitivity and rating scales for intensity-and provides a neural interpretation for the underlying representation.

The Processing of Short Time Intervals: Some Critical Issues.

Humans have the capability to make judgments about the relative duration of time intervals with accuracy (correct perceived duration) and precision (low variability). However, this capability has limitations, some of which are discussed in the present chapter. These limitations, either in terms of accuracy or precision, are obvious when there are changes in the physical characteristics of the stimuli used to mark the intervals to be judged. The characteristics are the structure (filled vs. empty) of the intervals and the sensory origin of the stimuli used to mark them. The variability of time estimates also depends on the use of single intervals by opposition to the use of sequences of intervals, and on the duration range under investigation. In addition to the effect caused by the physical characteristics of the stimuli, the perceived duration also relies on the way of presenting successive stimuli and on whether the intervals are marked by a single source or by different sources with distance (spatial effect) between them.

"Value-Conditioned Interest": Secularity, Institutional Support, and the Sociology of Religion in Graduate Departments.

Although religion once played a central role in sociological inquiry, today it has fallen from prominence and now occupies a marginal space in the field. Sociologists of religion suggest that this neglect can be explained by the unusual irreligiosity of academia. However, some are hopeful that changes to graduate training and other institutional interventions can overcome this propensity and encourage more sociological engagement with religion, one of the most influential forces in contemporary society. Drawing on a new dataset of 473 sociology graduate students in the top 25 departments in the United States, we assess how personal secularity and departmental support for religious inquiry predict sociological engagement with religion. Personal secularity is a strong predictor of the decision to study religion and of the overall perception of the relevance of religion in contemporary society. Coming from a department where religion is discussed and faculty pursue research on religion predicts the perception of religion's relevance for the secular majority. Our findings contribute to the understanding of sociological knowledge creation and how individual and institutional proclivities-together-shape what we deem important enough to study.

Surgical Orthodontic Treatment for Skeletal Maxillary Protrusion in Sturge-Weber Syndrome: A Case Report and Review of the Literature.

Sturge-Weber syndrome (SWS) is characterized by hemangiomas, glaucoma, and central nervous system disorders. Here, we report the case of a 15-year-old boy with SWS and upper-lip hypertrophy who underwent surgical orthodontic treatment for correction of a large overjet and deep overbite. In addition to the a large overjet and deep overbite, interdental spacing was observed in both the arches. The mandible was retrognathic and deviated to the right side. No maxillary occlusal canting or temporomandibular joint symptoms were observed. The patient was diagnosed with skeletal maxillary protrusion with spaced dentition and mandibular deviation to the right due to SWS. After presurgical orthodontic treatment using a multibracket appliance, we performed a sagittal split ramus osteotomy (SSRO) alone due to the presence of a hemangioma around the maxilla. No abnormal bleeding or cerebral hemorrhage due to increased blood pressure was observed during the SSRO. Postoperatively, the maxillary and mandibular arches were well-aligned, the deep overbite and excessive overjet improved, and bilateral angle class I molar and canine relationships were established. Furthermore, mandibular deviation improved, and the midlines of both arches approximately coincided with the facial midline. In conclusion, orthognathic surgery is feasible in patients with SWS after carefully evaluating the sites and sizes of the hemangiomas.

Radio-pathologic correlation: no pial angioma-subarachnoid varicose network drainage pathway in Sturge-Weber syndrome.

PURPOSE: The traditional imaging findings reported in Sturge-Weber syndrome (SWS) include endpoints of cortical injury-cortical atrophy and cortical calcifications-but also what has been termed a "leptomeningeal angiomatosis," the latter recognized and reported as a leptomeningeal enhancement on magnetic resonance imaging (MRI). The objective of this study is to demonstrate through neuropathological correlation that the "leptomeningeal angiomatosis" in patients with Sturge-Weber syndrome (SWS), represents a re-opened primitive venous network in the subarachnoid space that likely acts as an alternative venous drainage pathway, seen separately to abnormal pial enhancement. MATERIALS AND METHODS: Retrospective review of MR imaging and surgical pathology of patients that underwent surgery for epilepsy at a tertiary, children's hospital. A pediatric radiologist with more than 20 years of experience reviewed the MR imaging. Surgically resected brain specimens that had been sectioned and fixed in 10% paraformaldehyde for histologic processing, following processing and paraffin embedding, were cut into 5-µm unstained slides which were subsequently stained with hematoxylin and eosin (H&E). Slides were re-examined by a board-certified pediatric neuropathologist, and histologic features specifically relating to cerebral surface and vascularity were documented for correlation with MR imaging of the resected region performed prior to resection. RESULTS: Five patients were reviewed (3 boys and 2 girls; the median age at the onset of seizures was 12 months (IQR, 7 to 45 months); the median age at surgery was 33 months (IQR, 23.5 to 56.5 months)). Surgical procedures included the following: 4, hemispherotomy (right: 2, left: 2) and 1, hemispherectomy (right). A subarachnoid space varicose network was present on both MRI and histology in 4 patients. Calcifications were seen on both MRI and histology in 3 patients. Abnormal leptomeningeal enhancement was present in 5 patients and seen separately from the subarachnoid vascular network in 4 patients. CONCLUSION: Histopathology confirmed the MRI findings of a subarachnoid space varicose network seen separately from leptomeningeal enhancement and presumed to represent an alternative venous drainage pathway to compensate for maldevelopment of cortical veins, the primary abnormality in SWS. No pial-based angioma was identified.

Early Infantile Diagnosis of Hereditary Hemorrhagic Telangiectasia Complicated by Child Abuse.

We report a rare case of hereditary hemorrhagic telangiectasia (HHT) in a 4-month-old female infant with findings of child abuse. She presented with poor feeding, vomiting, and irritability after a short fall from the bed. Initial evaluation found subdural hematomas, persistent hypoxia, failure to thrive, a frenulum tear, facial lacerations, and bruising. The patient was admitted, and an extensive workup led to the diagnosis of brain and pulmonary arteriovenous malformations and finally the diagnosis of HHT. The subdural hematomas, cutaneous injuries, and oral injury were highly suspicious for child abuse and were reported to Child Protective Services and law enforcement for investigation simultaneous to the medical work-up. Her hospital course was complicated by progressive hypoxemia with radiographic evidence of several large pulmonary arteriovenous malformations, for which she underwent successful embolization. Her head injury was indeterminate for physical abuse in the setting of a medical condition predisposing to intracranial hemorrhage. A few weeks later, she was readmitted with repeat abusive injuries in the form of femur fractures. This case demonstrates the unique diagnostic dilemma when 2 diagnoses are occurring simultaneously-HHT and child abuse-and showcases the importance of a detailed family history, genetic testing, strong multidisciplinary collaboration with a holistic approach and medically informed Child Protective Services systems to ensure accurate diagnoses and safe disposition.

Adaptive Processing Enabled by Sodium Alginate Based Complementary Memristor for Neuromorphic Sensory System.

Adaptive processing allows sensory systems to autonomically adjust their sensitivity with exposure to a constant sensory stimulus and thus organisms to adapt to environmental variations. Bioinspired electronics with adaptive functions are highly desirable for the development of neuromorphic sensory systems (NSSs). Herein, the functions of desensitization and sensitivity changing with background intensity (i.e., Weber's law), as two fundamental cues of sensory adaptation, are biorealistically demonstrated in an Ag nanowire (NW)-embedded sodium alginate (SA) based complementary memristor. In particular, Weber's law is experimentally emulated in a single complementary memristor. Furthermore, three types of adaptive NSS unit are constructed to realize a multiple perceptual capability that processes the stimuli of illuminance, temperature, and pressure signals. Taking neuromorphic vision as an example, scotopic and photopic adaptation functions are well reproduced for image enhancement against dark and bright backgrounds. Importantly, an NSS system with multisensory integration function is demonstrated by combining light and pressure spikes, where the accuracy of pattern recognition is obviously enhanced relative to that of an individual sense. This work offers a new strategy for developing neuromorphic electronics with adaptive functions and paves the way toward developing a highly efficient NSS.

Dermato-Radiological Evaluation of Congenital Limb Overgrowth Vascular Syndromes.

International Society for the Study of Vascular Anomalies classification defines Congenital Limb Overgrowth Vascular Syndromes (CLOS) as a subset of vascular syndromes with other abnormalities that present with unilateral limb overgrowth. It includes Klippel-Trenaunay Syndrome, Parkes-Weber Syndrome, CLOVES (Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, Spinal/Skeletal Anomalies/Scoliosis) Syndrome, Proteus Syndrome, PTEN Hamartomatous Syndrome, and Fibroadipose Vascular Anomaly. Due to their rare and complex nature, a multidisciplinary approach to diagnosis and treatment is required. A thorough clinical and radiological workup can go miles in reflecting on the patient's outcome. Here we report five cases of CLOS with their detailed dermato-radiological profiles.

Comparison of operatively and nonoperatively treated isolated Weber B ankle fractures: a systematic review and meta-analysis.

BACKGROUND: Despite fractures of Isolated Weber B being prevalent, there is a lack of clarity regarding the relative effectiveness of surgical versus conservative treatment. This systematic review and meta-analysis aimed to investigate the clinical effects and complications of surgical versus conservative treatment of the Isolated Weber B ankle fractures. METHODS: This study involved thorough searches across multiple electronic databases, including PubMed, Cochrane, Embase, and Web of Science, to identify all relevant publications on Isolated Weber B ankle fractures repaired through surgical versus conservative treatment. Through a comprehensive meta-analysis, several outcomes were evaluated, including post-operative function, complications and reoperation rate. RESULT: Six articles involving 818 patients who met the inclusion criteria. Among these participants, 350 were male and 636 were female. 651 patients received conservative treatment, while 396 underwent surgical intervention. The findings indicate no significant differences in OMAS, FAOQ, PCS, MCS scores, and return to work between surgical and non-surgical treatments for isolated Weber B ankle fractures. However, compared with surgical treatment, non-surgical treatment has a higher AOFAS score(MD = -5.31, 95% CI = [-9.06, -1.55], P = 0.20, I2 = 39%), lower VAS score(MD = 0.72, 95% CI = [0.33, 1.10], P = 0.69, I2 = 0%), lower complication rate (RR = 3.06, 95% CI = [1.58, 6.01], P = 0.05, I2 = 54%), and lower reoperation rate(RR = 8.40, 95% CI = [1.57, 45.06], P = 0.05, I2 = 67%).

Unmasking Sturge-Weber syndrome in adulthood: a case with extrafacial port-wine stain and delayed neurological symptoms.

Background: Sturge-Weber syndrome (SWS) is a rare neurocutaneous disorder characterized by a facial port-wine birthmark, leptomeningeal angiomatosis, and glaucoma. This case report highlights the challenges of diagnosing SWS when presenting with atypical features. Here, the authors present a 55-year-old man with an extrafacial port-wine stain and delayed-onset seizures, deviating from the classic triad. Case presentation: A 55-year-old man presented with a recent seizure and a characteristic port-wine birthmark extending beyond the typical facial region. Neurological examination revealed no weakness, speech difficulties, or coordination problems. Ophthalmological examination didn't reveal glaucoma. Limited resources restricted access to advanced imaging like MRI scans. However, based on the constellation of clinical findings, including the facial birthmark with angiomatosis and the new-onset seizure, the patient received a diagnosis of SWS. Treatment with Levetiracetam was initiated to prevent future seizures, and patient education on managing diabetes and hypertension was provided. Clinical discussion: This case underscores the importance of considering SWS in diagnosing adult-onset seizures, especially with a characteristic facial birthmark. The delayed presentation and isolated seizure suggest potentially less severe brain involvement. Resource limitations necessitated a clinical diagnosis and treatment with readily available medications. Conclusion: This case highlights the challenges of diagnosing atypical SWS presentations. Early diagnosis is crucial for prompt management and improved patient outcomes. Future research should focus on developing robust diagnostic tools and exploring novel treatment options for atypical SWS presentations.

The precision of signals encoding active self-movement.

Everyday actions like moving the head, walking around and grasping objects are typically self-controlled. This presents a problem when studying the signals encoding such actions because active self-movement is difficult to control experimentally. Available techniques demand repeatable trials, but each action is unique, making it difficult to measure fundamental properties like psychophysical thresholds. We present a novel paradigm that recovers both precision and bias of self-movement signals with minimal constraint on the participant. The paradigm relies on linking image motion to previous self-movement, and two experimental phases to extract the signal encoding the latter. The paradigm takes care of a hidden source of external noise not previously accounted for in techniques that link display motion to self-movement in real time (e.g. virtual reality). We use head rotations as an example of self-movement, and show that the precision of the signals encoding head movement depends on whether they are being used to judge visual motion or auditory motion. We find that perceived motion is slowed during head movement in both cases. The 'non-image' signals encoding active head rotation (motor commands, proprioception and vestibular cues) are therefore biased towards lower speeds and/or displacements. In a second experiment, we trained participants to rotate their heads at different rates and found that the imprecision of the head rotation signal rises proportionally with head speed (Weber's Law). We discuss the findings in terms of the different motion cues used by vision and hearing, and the implications they have for Bayesian models of motion perception.

Epileptic seizures as an initial symptom for Sturge­Weber syndrome type III: A report of two cases.

Sturge-Weber syndrome (SWS) type III, a rare neurocutaneous disorder, presents diagnostic challenges due to its variable clinical manifestations. The present study focuses on enhancing the understanding of this syndrome by conducting a detailed analysis of two pediatric cases and providing a comprehensive review of the existing literature. The cases, managed at the Children's Hospital Affiliated to Shandong University (Jinan, China), highlight the diverse clinical presentations and successful management strategies for SWS type III. In the first case, a 4-year-old male patient exhibited paroxysmal hemiplegia, epileptic seizures and cerebral angiographic findings indicative of left pia mater and venous malformation. The second case involved a 2.5-year-old male patient presenting with recurrent seizures and angiographic findings on the right side. Both cases underscore the importance of considering epileptic seizures, acquired and transient hemiplegia and cognitive impairments in the diagnosis of SWS type III. The present study provides insights into the effective use of both pharmacological and surgical interventions, drawing from the positive outcomes observed in these cases. The findings emphasize the need for heightened awareness and a meticulous approach in diagnosing and treating SWS type III, contributing to the better management and prognosis of this condition.

Spontaneous haemothorax caused by a ruptured pulmonary arterio-venous malformation: A manifestation of hereditary haemorrhagic telangiectasia in pregnancy.

We report our experience of managing a massive haemothorax caused by a ruptured, previously unknown, pulmonary arteriovenous malformation (pAVM) at 34 + 5 weeks of gestation, which proved to be a manifestation of hereditary haemorrhagic telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome. The patient underwent an emergency caesarean section under general anaesthesia after placement of a chest tube and gave birth to a healthy infant. A postoperative thoracic computed tomography angiography highlighted the presence of the large pAVM. Transcatheter embolization was performed right after the delivery. Subsequent patient's anamnesis, family history and genetic analysis finally revealed the presence of the syndrome. The aim of our report is to create awareness of this serious condition with potential life-threatening complications, especially in pregnancy. Simple criteria have been published and allow to easily consider HHT and the presence of potential AVM during anamnesis, ideally even before pregnancy.

Psychiatry as a vocation: Moral injury, COVID-19, and the phenomenology of clinical practice.

In this article, we focus on a particular kind of emotional impact of the pandemic, namely the phenomenology of the experience of moral injury in healthcare professionals. Drawing on Weber's reflections in his lecture Politics as a Vocation and data from the Experiences of Social Distancing during the COVID-19 Pandemic Survey, we analyse responses from healthcare professionals which show the experiences of burnout, sense of frustration and impotence, and how these affect clinicians' emotional state. We argue that this may relate to the ethical conflicts they experience when they are forced to make clinical decisions where there are no optimal outcomes, and how in turn that impacts on their own emotional state. We then further examine the notion of 'burnout' and the phenomenology of 'moral injury'. Our argument is that these experiences of moral injury across a range of clinicians during the pandemic may be more prevalent and long-standing in psychiatry and mental health than in other areas of healthcare, where ethically difficult decisions and resource constraints are common outside times of crisis. Hence, in these clinical arenas, moral injury and the phenomenology of emotional changes may be independent of the pandemic. The insights gained during the pandemic may provide wider insights into the challenges of developing services and training the workforce to provide appropriate mental health care.