Spectrum of Neurological Symptoms in Glycosylphosphatidylinositol Biosynthesis Defects: Systematic Review

Background: Mutations of genes involved in the synthesis of glycosylphosphatidylinositol and glycosylphosphatidylinositol-anchored proteins lead to rare syndromes called glycosylphosphatidylinositol-anchored proteins biosynthesis defects. Alterations of their structure and function in these disorders impair often fundamental processes in cells, resulting in severe clinical image. This study aimed to provide a systematic review of GPIBD cases reports published in English-language literature.Methods: The browsing of open-access databases (PubMed, PubMed Central. and Medline) was conducted, followed by statistical analysis of gathered information concerning neurological symptomatology. The inclusion criteria were: studies on humans, age at onset (<18 y.o.), and report of GPIBD cases with adequate data on the genetic background and symptomatology. Exclusion criteria were: publication type (manuscripts, personal communication, review articles); reports of cases of GPI biosynthesis genes mutations in terms of other disorders; reports of GPIBD cases concentrating on non-neurological symptoms; or articles concentrating solely on the genetic issues of GPI biosynthesis. Risk of bias was assessed using Joanna Brigs Institute Critical Appraisal Checklists. Data synthesis was conducted using STATISTICA 13.3.721.1 (StatSoft Polska Sp. z.o.o.). Used tests were chi-square, Fisher's exact test (for differences in phenotype), and Mann-Whitney U test (for differences in onset of developmental delay).Results: Browsing returned a total of 973 articles which, after ruling out the repetitions and assessing the inclusion and exclusion criteria, led to final inclusion of 77 articles (337 GPIBD cases) in the analysis. The main outcomes were prevalence of neurological symptoms, onset and semiology of seizures and their response to treatment, and onset of developmental delay. Based on this data a synthesis of phenotypical differences between the groups of GPIBD cases and the general GPIBD cases population was made.Discussion: A synthetical analysis of neurological components in clinical image of GPIBD patients was presented. It highlights the main features of these disorders, which might be useful in clinical practice for consideration in differential diagnosis with children presenting with early-onset seizures and developmental delay. The limitation of this review is the scarcity of the specific data in some reports, concerning the semiology and onset of two main features of GPIBD.

Comparison of image quality of corneal and retinal optical coherence tomography using sedation and general anesthesia protocols with or without retrobulbar anesthesia in horses

OBJECTIVE To compare image quality and acquisition time of corneal and retinal spectral domain optical coherence tomography (SD-OCT) under 3 different sedation-anesthesia conditions in horses. ANIMALS 6 middle-aged geldings free of ocular disease. PROCEDURES 1 randomly selected eye of each horse was evaluated via SD-OCT under the following 3 conditions: standing sedation without retrobulbar anesthetic block (RB), standing sedation with RB, and general anesthesia with RB. Five regions of interest were evaluated in the cornea (axial and 12, 3, 6, and 9 o’clock positions) and fundus (optic nerve head). Three diagnostic scans of predetermined quality were obtained per anatomical region. Image acquisition times and total scans per site were recorded. Corneal and retinal SD-OCT image quality was graded on a subjective scale from 0 (nondiagnostic) to 4 (excellent). RESULTS Mean values for the standing sedation without RB, standing sedation with RB, and general anesthesia conditions were 24, 23, and 17, respectively, for total cornea scan attempts; 23, 19, and 19 for total retina-scan attempts; 14.6, 13.2, and 9.2 minutes for total cornea scan time; 19.1, 9.2, and 13.0 for total retina scan time; 2.0, 2.3, and 2.5 for cornea grade; and 2.7, 2.9, and 2.5 for retina grade. CONCLUSIONS AND CLINICAL RELEVANCE The RB facilitated globe akinesia and improved the percentage of scans in frame and region of interest accuracy for retinal imaging via OCT in horses. Retrobulbar blocks improved clinical image acquisition while minimizing motion artifact.

Giant Soft Tissue Sarcoma of Scalp with Skull and Cerebral Invasion

Scalp soft tissue sarcomas (STS) are very rare accounting for less than 0.1% of all malignancies. We report a rare clinical image of advanced stage soft tissue sarcoma of the scalp. A 65 year woman had presented to the surgical department with complaints of a rapidly growing swelling over the scalp for three months. On examination there was huge 20 x 20 cm swelling over the scalp in the left temporoparietal region with variegated consistency. Computed tomography of head revealed a large soft tissue mass with necrosis invading the bone and underlying brain parenchyma. Histopathological finding from core needle biopsy revealed pleomorphic sarcoma. STS are highly malignant tumors which should be diagnosed and treated using multimodality approach. Recurrences are common even after complete resection and prognosis is poor.

Symptomatic nucleus of homeopathic remedies: remedies derived from carbon as case-study.

Homeopathic clinical practice requires both accuracy and agility in diagnosis and prescription of treatment during real-time consultations. Several approaches have been attempted to facilitate this process including different criteria to group homeopathic remedies. This study sought to establish whether classification according to the chemical composition of substances used as basis of homeopathic remedies have correspondence in the experimental homeopathic materia medica. Methods: The homeopathic remedies derived from carbon were selected as case-study. The experimental symptoms of these remedies were compared and a nucleus of symptoms common to all could be found. This nucleus was then compared to similarly obtained nuclei of experimental symptoms of homeopathic remedies derived from sulfur and phosphor to test qualitative specificity and finally to the traditionally described clinical picture of the so-called homeopathic carbonic constitution to establish whether the latter has homeopathic experimental grounds. Results: a nucleus of experimental symptoms common to homeopathic remedies derived from carbon was found, qualitatively different from the symptomatic nuclei of homeopathic remedies derived from sulfur and phosphor; no correlation was found, however, with the clinical image of so-called carbonic constitution. Keywords: Homeopathy; Materia Medica; Remedies; Classes; Carbon.  Núcleo sintomático dos medicamentos homeopáticos derivados do Carbono Resumo A prática homeopática exige simultaneamente, rapidez e exatidão no diagnóstico e a prescrição do tratamento nas consultas, em tempo real. Para isso, diversas estratégias tem sido implementadas para facilitar tal processo, incluindo critérios para agrupar os medicamentos homeopáticos. Este estudo se propôs a verificar se classificações baseadas na composição química das substâncias utilizadas nos medicamentos homeopáticos tem correlação com a materia médica homeopática experimental. Métodos: Como estudo de caso, foram selecionados os medicamentos homeopáticos derivados de carbono. Os sintomas experimentais destes medicamentos foram comparados de maneira a definir um núcleo de síntomas comuns ao grupo. Este núcleo foi comparado aos outros núcleos correspondentes a sintomas experimentais de medicamentos homeopáticos derivados de Enxofre e Fósforo, com o propósito de determinar a especificidade qualitativa do núcleo carbônico em estudo. Finalmente, comparamos o núcleo proposto com o quadro tradicional atribuído àchamada constituição carbônica homeopática, com o objetivo de verificar se esta tem alguma fundamentação experimental. Resultados: foi encontrado um núcleo sintomático comum aos medicamentos derivados de carbono, qualitativamente diferente dos núcleos sintomáticos dos medicamentos derivados do Enxofre e Fósforo. No entanto, não foi encontrada correlação entre este núcleo e o quadro clínico do grupo chamado de constituição carbônica. Palavras-chave: Homeopatia; Materia Medica; Remédios; Classes; Carbono.  Nucleo sintomático de los medicamentos homeopaticos derivados de carbono Resumen La praxis homeopática exige simultáneamente rapidez y precisión en el diagnóstico y prescripción del tratamiento en consultas en tiempo real. Por eso, diversas estrategias han sido buscadas para facilitar este proceso, incluyendo criterios para agrupar los medicamentos homeopáticos. El presente estudio se propuso establecer si clasificaciones basadas en la composición química de las sustancias utilizadas como base de los medicamentos homeopáticos tienen correlación con la materia médica homeopática experimental. Métodos: como estudio de caso, fueron seleccionados los medicamentos homeopáticos derivados de carbono; los síntomas experimentales de estos medicamentos fueron comparado de manera a definir un núcleo de síntomas común al grupo; este núcleo fue comparado a los correspondientes a los síntomas experimentales de los medicamentos homeopáticos derivados de azufre y fósforo, con el propósito de determinar la especificidad cualitativa del núcleo carbónico propuesto; finalmente, el núcleo propuesto fue comparado con el cuadro tradicional atribuido a la así llamada constitución carbónica homeopática, con el propósito de establecer si ésta última tiene fundamentos experimentales. Resultados: fue encontrado efectivamente un núcleo sintomático común a los medicamentos homeopáticos derivados de carbono, cualitativamente diferente de los núcleos sintomáticos de los medicamentos homeopáticos derivados de azufre y fósforo; no fue detectada correlación entre este núcleo y el cuadro clínico de la así llamada constitución carbónica. Palabras-clave: Homeopatia; Materia Medica; Remédios; Classes; Carbono.  Correspondence author: Luciana Costa Lima Thomaz, [email protected] How to cite this article: Symptomatic nuclei of homeopathic remedies: remedies derived from carbon as case-study. Int J High Dilution Res. [online]. 2009 [cited YYYY Month dd]; 8 (26): 15-25. Available from: http://journal.giri-society.org/index.php/ijhdr/article/view/330/381. ÂÂÂ

A cross-scanner and cross-tracer deep learning method for the recovery of standard-dose imaging quality from low-dose PET

Purpose A critical bottleneck for the credibility of artificial intelligence (AI) is replicating the results in the diversity of clinical practice. We aimed to develop an AI that can be independently applied to recover high-quality imaging from low-dose scans on different scanners and tracers. Methods Brain [18F]FDG PET imaging of 237 patients scanned with one scanner was used for the development of AI technology. The developed algorithm was then tested on [18F]FDG PET images of 45 patients scanned with three different scanners, [18F]FET PET images of 18 patients scanned with two different scanners, as well as [18F]Florbetapir images of 10 patients. A conditional generative adversarial network (GAN) was customized for cross-scanner and cross-tracer optimization. Three nuclear medicine physicians independently assessed the utility of the results in a clinical setting. Results The improvement achieved by AI recovery significantly correlated with the baseline image quality indicated by structural similarity index measurement (SSIM) (r = −0.71, p < 0.05) and normalized dose acquisition (r = −0.60, p < 0.05). Our cross-scanner and cross-tracer AI methodology showed utility based on both physical and clinical image assessment (p < 0.05). Conclusion The deep learning development for extensible application on unknown scanners and tracers may improve the trustworthiness and clinical acceptability of AI-based dose reduction.

Explainability of Convolutional Neural Networks for Dermatological Diagnosis

Background Convolutional neural networks (CNNs) are regarded as state-of-the-art artificial intelligence (AI) tools for dermatological diagnosis, and they have been shown to achieve expert-level performance when trained on a representative dataset. CNN explainability is a key factor to adopting such techniques in practice and can be achieved using attention maps of the network. However, evaluation of CNN explainability has been limited to visual assessment and remains qualitative, subjective, and time consuming. Objective This study aimed to provide a framework for an objective quantitative assessment of the explainability of CNNs for dermatological diagnosis benchmarks. Methods We sourced 566 images available under the Creative Commons license from two public datasets—DermNet NZ and SD-260, with reference diagnoses of acne, actinic keratosis, psoriasis, seborrheic dermatitis, viral warts, and vitiligo. Eight dermatologists with teledermatology expertise annotated each clinical image with a diagnosis, as well as diagnosis-supporting characteristics and their localization. A total of 16 supporting visual characteristics were selected, including basic terms such as macule, nodule, papule, patch, plaque, pustule, and scale, and additional terms such as closed comedo, cyst, dermatoglyphic disruption, leukotrichia, open comedo, scar, sun damage, telangiectasia, and thrombosed capillary. The resulting dataset consisted of 525 images with three rater annotations for each. Explainability of two fine-tuned CNN models, ResNet-50 and EfficientNet-B4, was analyzed with respect to the reference explanations provided by the dermatologists. Both models were pretrained on the ImageNet natural image recognition dataset and fine-tuned using 3214 images of the six target skin conditions obtained from an internal clinical dataset. CNN explanations were obtained as activation maps of the models through gradient-weighted class-activation maps. We computed the fuzzy sensitivity and specificity of each characteristic attention map with regard to both the fuzzy gold standard characteristic attention fusion masks and the fuzzy union of all characteristics. Results On average, explainability of EfficientNet-B4 was higher than that of ResNet-50 in terms of sensitivity for 13 of 16 supporting characteristics, with mean values of 0.24 (SD 0.07) and 0.16 (SD 0.05), respectively. However, explainability was lower in terms of specificity, with mean values of 0.82 (SD 0.03) and 0.90 (SD 0.00) for EfficientNet-B4 and ResNet-50, respectively. All measures were within the range of corresponding interrater metrics. Conclusions We objectively benchmarked the explainability power of dermatological diagnosis models through the use of expert-defined supporting characteristics for diagnosis. Acknowledgments This work was supported in part by the Danish Innovation Fund under Grant 0153-00154A. Conflict of Interest None declared.

Retinal Optical Quality of Multifocal Refractive and Monofocal Intraocular Lenses

(1) Background: This study aimed to evaluate and compare the clinical optical image quality following implantation with different premium IOLs by the analysis of the point spread function (PSF) Strehl ratio using a Pyramidal WaveFront-based sensor (PWS) aberrometer at two different pupil sizes. (2) Methods: This study included 96 eyes of 70 patients implanted with: (1) 19 AcrySof SA60AT (control group); (2) 24 LENTIS Mplus LS-313 MF30; (3) 33 LENTIS Mplus LS-313 MF15; and (4) 20 Precizon Presbyopic. Main outcome measures were PSF Strehl ratio, PSF Strehl ratio excluding second-order aberrations (PSFw2), total root-mean-square (RMS), and low- and high-order aberrations’ RMS measured by PWS aberrometer. Results: SA60AT had the highest significant PSFw2 Strehl ratio at both 3- and 4-mm pupil size (0.41 ± 0.11 and 0.28 ± 0.07) followed by LENTIS Mplus 15 (group C, 0.35 ± 0.1 and 0.21 ± 0.06) and a near tie between LENTIS MPLUS 30 (group B, 0.27 ± 0.08 and 0.18 ± 0.06) and Precizon Presbyopic (group D, 0.27 ± 0.07 and 0.17 ± 0.04). MPlus MF15 was found to be significantly better than MPlus MF30 at both 3.00 mm (p < 0.0001) and 4.00 mm (p = 0.002). (4) Conclusions: The PSFw2 represents a new tool to objectively evaluate the far distance retinal image quality of multifocal IOLs, and the far distance clinical image quality parameters measured by PWS aberrometer differed significantly according to the technology of the implanted lens.

Prolonged mannerism as an isolated, interesting, and old symptom in a schizophrenic patient with poor response to clozapine: a clinical image

The concept of catatonia was first described by a German psychiatrist, Kahlbaum, in 1874. Catatonia is a serious neurological disorder associated with a wide range of psychiatric, neurological, medical conditions, and drug-induced disorders. Nevertheless, there is no absolute guideline for treating catatonia patients in whom the cause of the disorder is unknown. Clozapine is the first atypical antipsychotic used for the treatment of catatonia. Our case was a 51-year-old single, right-handed man with schizophrenia and a specific symptom of catatonia. Despite previous studies findings revealing the efficacy of clozapine in relieving catatonia symptoms, our patient did not show a definite response to this medication. Hence, follow-up of these patients to evaluate other treatments and possible incidence or manifest of other catatonic features like waxy flexibility, echo phenomenon, and negativism are suggested.

Skin reactions after injection of COVID-19 vaccine: four clinical image

The article's abstract is not available.