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Journal of Healthcare Engineering 2022Horner syndrome is a clinical constellation that presents with miosis, ptosis, and facial anhidrosis. It is important as a warning sign of the damaged oculosympathetic...
Horner syndrome is a clinical constellation that presents with miosis, ptosis, and facial anhidrosis. It is important as a warning sign of the damaged oculosympathetic chain, potentially with serious causes. However, the diagnosis of Horner syndrome is operator dependent and subjective. This study aims to present an objective method that can recognize Horner sign from facial photos and verify its accuracy. A total of 173 images were collected, annotated, and divided into training and testing groups. Two types of classifiers were trained (two-stage classifier and one-stage classifier). The two-stage method utilized the MediaPipe face mesh to estimate the coordinates of landmarks and generate facial geometric features accordingly. Then, ten machine learning classifiers were trained based on this. The one-stage classifier was trained based on one of the latest algorithms, YOLO v5. The performance of the classifier was evaluated by the diagnosis accuracy, sensitivity, and specificity. For the two-stage model, the MediaPipe successfully detected 92.2% of images in the testing group, and the Decision Tree Classifier presented the highest accuracy (0.790). The sensitivity and specificity of this classifier were 0.432 and 0.970, respectively. As for the one-stage classifier, the accuracy, sensitivity, and specificity were 0.65, 0.51, and 0.84, respectively. The results of this study proved the possibility of automatic detection of Horner syndrome from images. This tool could work as a second advisor for neurologists by reducing subjectivity and increasing accuracy in diagnosing Horner syndrome.
Topics: Humans; Horner Syndrome; Algorithms; Machine Learning
PubMed: 36451761
DOI: 10.1155/2022/8670350 -
A Boy Who Knows No Pain: Anaesthetic Management of Congenital Insensitivity to Pain With Anhidrosis.Cureus Oct 2022Congenital insensitivity to pain with anhidrosis (CIPA) is a rare disorder with an absence of pain perception, anhidrosis, heat intolerance, and varying degrees of...
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare disorder with an absence of pain perception, anhidrosis, heat intolerance, and varying degrees of mental retardation. Though cases of CIPA have innate analgesia, they have been known to have tactile hyperesthesia, thus making anesthesia necessary in case of any surgery. Perioperative complications due to abnormal autonomic functions like bradycardia, hypotension, and hyperthermia are major challenges in the anesthetic management of these cases. Here, we report a case on the anesthetic management of CIPA.
PubMed: 36447712
DOI: 10.7759/cureus.30790 -
Indian Journal of Occupational and... 2022Ross syndrome is a rare clinical disorder of sweating associated with tonic pupil and areflexia. There are very few case reports of Ross syndrome in dermatology...
Ross syndrome is a rare clinical disorder of sweating associated with tonic pupil and areflexia. There are very few case reports of Ross syndrome in dermatology literature, most presenting with patchy hyperhidrosis. Here, we report two isolated cases who had presented to the emergency department with heat exhaustion. Multidisciplinary evaluations of the first case revealed focal anhidrosis, patchy hyperhidrosis, postural hypotension, absent deep tendon reflex, and tonic pupil while the second case had similar features except for postural hypotension, prompting the diagnosis of Ross syndrome. Presentation of these two patients highlights the importance of a high index of suspicion of dysautonomic disorder, interdisciplinary workup of a case of patchy anhidrosis, or hyperhidrosis, which may get missed in busy outpatient department (OPD) visit.
PubMed: 36408429
DOI: 10.4103/ijoem.ijoem_107_21 -
Molecular Genetics and Metabolism... Dec 2022Fabry disease is a rare lysosomal storage disorder that primarily affects the heart and kidneys, often presenting with reduced renal function. Polycystic kidney disease...
Fabry disease is a rare lysosomal storage disorder that primarily affects the heart and kidneys, often presenting with reduced renal function. Polycystic kidney disease is a renal condition in which cysts are found, which have a different presentation than the cysts associated with Fabry disease. We report a 60-year-old male patient who was diagnosed with Fabry disease with the classic c.730G > A (p.Asp244Asn) variant of the gene at 34 years of age. Fabry symptoms in this patient include hypohidrosis, hearing loss, corneal whorling, and edema. He also presented with polycystic kidney disease with multiple simple and mildly complex cysts on abdominal ultrasound. Family history of note included Fabry disease in his mother and maternal uncle as well as polycystic kidneys in his mother. Molecular analysis for polycystic kidney disease revealed a variant of uncertain significance (VUS) in the gene. Although the in silico studies of this VUS have inconclusive results, the patient fills clinical criteria of autosomal dominant polycystic kidney disease, therefore, Fabry disease and polycystic kidney disease are considered two co-existing manifestations in this family. This case demonstrates the possibility of two renal comorbidities in the same individual and the risk of one diagnosis being overlooked by the other.
PubMed: 36406818
DOI: 10.1016/j.ymgmr.2022.100934 -
Pediatrics International : Official... Jan 2023Novel coronavirus disease (COVID-19) outbreaks have dramatically changed lifestyles, with various effects on the physical and mental health of families and children with...
BACKGROUND
Novel coronavirus disease (COVID-19) outbreaks have dramatically changed lifestyles, with various effects on the physical and mental health of families and children with various childhood-onset neurological diseases. A questionnaire survey was conducted to identify family-specific issues and needs of patients with congenital insensitivity to pain with anhidrosis (CIPA) during major changes in their daily lives due to the COVID-19 outbreaks.
METHODS
An anonymous questionnaire was sent to 56 families that were members of the Association of Patients and Families of CIPA in Japan between October and November 2020, the first 2 months of the third outbreak.
RESULTS
Thirty-eight families (67.2% response rate) responded to the questionnaire. The current concerns of the parents were (1) difficulty in predicting the future (19 parents, 50%), (2) household and work concerns (eight parents, 21.1%), and (3) whether they would become infected (25 parents, 65.8%). Fifteen families indicated stress due to increased time together (stress + group), and 10 families had a better understanding of each other due to increased time together. New sleep disturbances and behavioral changes were observed in approximately 20% and 50% of patients with CIPA, respectively. No single factor could explain family stress. There were also free descriptions of the importance of peer support, connections with experts, and prompt responses for resolution.
CONCLUSIONS
Each family has its own way of coping with multiple factors that contribute to the stress of the patient and family. A long-established resilience to the disease proved effective during this pandemic.
Topics: Child; Humans; Hereditary Sensory and Autonomic Neuropathies; Pandemics; Receptor, trkA; COVID-19
PubMed: 36371639
DOI: 10.1111/ped.15415 -
Veterinary Sciences Oct 2022This article aims to present several interesting and less typical courses of infections in foals, collected during the 2019-2021 foaling seasons in some Polish studs....
This article aims to present several interesting and less typical courses of infections in foals, collected during the 2019-2021 foaling seasons in some Polish studs. The study was conducted by the Division of Veterinary Epidemiology and Economics, Warsaw University of Life Sciences-SGGW, and concentrated on ultrasonographic contribution to diagnostics and treatment of the disease. Among many standard cases of rhodococcal pneumonia, some rare ones occurred. The aforementioned issues include the potential contribution of rhodococcal infection to a grave outcome in a prematurely born filly, lost as a yearling, so-called "extrapulmonary disorders" (EPD), a hypothesis of inherited immunodeficiency with grave outcome in a breeding dam line from one stud, and macrolide-induced anhidrosis. The main benefit of this report would be to supplement the general picture of clinical rhodococcosis.
PubMed: 36356082
DOI: 10.3390/vetsci9110605 -
Ophthalmology Apr 2023We aimed to characterize the ocular phenotype of patients with ROSAH (retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache) syndrome and their...
Ophthalmic Manifestations of ROSAH (Retinal Dystrophy, Optic Nerve Edema, Splenomegaly, Anhidrosis, and Headache) Syndrome, an Inherited NF κB-Mediated Autoinflammatory Disease with Retinal Dystrophy.
PURPOSE
We aimed to characterize the ocular phenotype of patients with ROSAH (retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and headache) syndrome and their response to therapy.
DESIGN
Single-center observational case study.
PARTICIPANTS
Eleven patients with a diagnosis of ROSAH syndrome and mutation in ALPK1 were included.
METHODS
Patients with molecularly confirmed ROSAH syndrome underwent ophthalmic evaluation, including visual acuity testing, slit-lamp and dilated examinations, color fundus and autofluorescence imaging, fluorescein angiography, OCT, and electrophysiologic testing.
MAIN OUTCOME MEASURES
Visual acuity, electrophysiology, fluorescein angiography, and OCT findings.
RESULTS
Eleven individuals (6 female and 5 male patients) from 7 families ranging in age from 7.3 to 60.2 years at the time of the initial evaluation were included in this study. Seven patients were followed up for a mean of 2.6 years (range, 0.33-5.0 years). Best-corrected visual acuity at baseline ranged from 20/16 to no light perception. Variable signs or sequelae of intraocular inflammation were observed in 9 patients, including keratic precipitates, band keratopathy, trace to 2+ anterior chamber cells, cystoid macular edema, and retinal vasculitis on fluorescein angiography. Ten patients were observed to show optic disc elevation and demonstrated peripapillary thickening on OCT. Seven patients showed retinal degeneration consistent with a cone-rod dystrophy, with atrophy tending to involve the posterior pole and extending peripherally. One patient with normal electroretinography findings and visual evoked potential was found to have decreased Arden ratio on electro-oculography.
CONCLUSIONS
Leveraging insights from the largest single-center ROSAH cohort described to date, this study identified 3 main factors as contributing to changes in visual function of patients with ROSAH syndrome: optic nerve involvement; intraocular inflammation, including cystoid macular edema; and retinal degeneration. More work is needed to determine how to arrest the progressive vision loss associated with ROSAH syndrome.
FINANCIAL DISCLOSURE(S)
Proprietary or commercial disclosure may be found after the references.
Topics: Male; Female; Humans; Macular Edema; NF-kappa B; Electroretinography; Splenomegaly; Hypohidrosis; Evoked Potentials, Visual; Retinal Dystrophies; Optic Nerve; Edema; Hereditary Autoinflammatory Diseases; Inflammation; Headache; Fluorescein Angiography; Tomography, Optical Coherence
PubMed: 36332842
DOI: 10.1016/j.ophtha.2022.10.026 -
Scientific Reports Oct 2022Cholinergic urticaria (CholU) is classified into several subtypes: (1) conventional sweat allergy-type CholU (conventional SAT-CholU), (2) CholU with palpebral...
Cholinergic urticaria (CholU) is classified into several subtypes: (1) conventional sweat allergy-type CholU (conventional SAT-CholU), (2) CholU with palpebral angioedema (CholU-PA), 3) CholU with acquired anhidrosis and/or hypohidrosis (CholU-Anhd); 1) and 2) include SAT based on pathogenesis. There have been no studies on differences in the prevalence of bronchial asthma among the subtypes. We analyzed bronchial responsiveness using the methacholine dose indicator D, respiratory symptoms, and exhaled nitric oxide (FeNO). Median log10 D (interquartile range) of patients with conventional SAT-CholU (n = 11), CholU-PA (n = 11), and CholU-Anhd (n = 11) was 0.381 (- 0.829, 1.079), 0.717 (0.249, 0.787), and 1.318 (0.121, 1.699), respectively (p = 0.516). Respiratory symptoms were less frequently observed in CholU-Anhd than in conventional SAT-CholU or CholU-PA. FeNO of patients with conventional SAT-CholU, CholU-PA, and CholU-Anhd was 23 (18.5, 65.0), 39 (32.0, 59.5), and 25 (19.0, 33.0) ppb, respectively (p = 0.237). Nine% of conventional SAT-CholU patients and more than half of CholU-PA patients required treatment for asthma. Log D tended to be lower in patients with SAT-CholU than in those with CholU-Anhd. CholU-PA might be associated with asthma.
Topics: Humans; Cross-Sectional Studies; Bronchial Hyperreactivity; Methacholine Chloride; Urticaria; Asthma; Nitric Oxide; Cholinergic Agents
PubMed: 36302805
DOI: 10.1038/s41598-022-22655-6 -
Cureus Sep 2022Cannulation of the internal jugular vein is often necessary for the management of critically ill patients. Despite being a very common procedure and performed more and...
Cannulation of the internal jugular vein is often necessary for the management of critically ill patients. Despite being a very common procedure and performed more and more safely, several complications still occur. Horner's Syndrome (HS) is one of those complications described before the use of ultrasound as a method of guidance. HS is caused by functional interruption of sympathetic nerve supply to the eye, leading to a classic triad of ipsilateral ptosis, miosis, and anhidrosis. We present the case of a patient, in need of emergent surgery to control the hemorrhagic focus after delivery, with a transient HS secondary to internal jugular vein cannulation under real-time ultrasound guidance.
PubMed: 36204040
DOI: 10.7759/cureus.28700