Features Of Syndrome Research Articles

The Association of Serum Ferritin with Disease Severity in Non-alcoholic Fatty Liver Disease

Abstract Background NONALCOHOLIC FATTY LIVER DISEASE is emerging as the most common chronic liver condition in the Western world. It is associated with insulin resistance and frequently occurs with features of the metabolic syndrome. Disease presentation ranges from asymptomatic elevated liver enzyme levels to cirrhosis with complications of liver failure and hepatocellular carcinoma. Current treatment recommendations are limited to weight loss and exercise, although several promising medications are on the horizon. Aim of the Work The aim of this study is to evaluate the association of serum ferritin with non- alcoholic fatty liver disease. Patients and Methods The study was cross sectional study which conducted at Ain Shams University Hospital. This study was conducted on 80 patients both sexes, with age (18years old - 60 years), duration of study will be 6 months. All study patients approved to participate in this study. Patients were divided in to 2 groups as following: Results Our study reveals that patients with non alcoholic steatohepatitis (NASH) have significantly higher median serum ferritin levels, compared to those with non alcohoholic fatty liver disease (NAFLD). Also ROC curve shows that the best cutoff point of serum ferritin to differentiate between normal lipid profile group and elevated lipid profile group was found > 80 with sensitivity of 82.5%, specificity of 60.0% and AUC of 69.5% while the best cutoff point of fatty liver index to differentiate between normal lipid profile group and elevated lipid profile group was found > 89 with sensitivity of 67.5%, specificity of 80.0% and AUC of 76.8%. Conclusion Elevated serum ferritin may reflect increased disease severity in NAFLD either because of increased ongoing hepatic or systemic inflammation or increased body iron stores or a combination of these factors. Our study also reveals that patients with non alcoholic steatohepatitis (NASH) have significantly higher median serum ferritin levels, compared to those with non alcohoholic fatty liver disease (NAFLD).

Abnormal dental phenotypes in GAPO syndrome: A descriptive study with a new ANTXR1 variant & insights on teeth eruption

ObjectiveGAPO syndrome is usually diagnosed clinically owing to its characteristic features of growth retardation, alopecia, pseudoanodontia, and ophthalmic anomalies. Pseudoanodontia describes the failure of eruption of the two sets of teeth in these patients. Thus, the abnormal dental phenotype is the emergence of a set or part of a set of dentitions. PurposeThis study reports the physical, oro-dental, and molecular findings of two new sibs with GAPO syndrome and provides a description of the dental phenotype of one of the patients reported before. Materials & MethodsThe patients were subjected to full medical history taking and three generations-pedigree construction. They were phenotyped according to the elements of morphology: Standard terminology series. After parental consents were acquired, molecular analysis was carried out for the two sibs (Patient 1 & 2). ResultsThese included a new gene variant associated with erupted teeth in GAPO syndrome and new clinical features. A new classification for the terminologies of eruption disturbances was suggested. ConclusionThe study asserts the importance of oro-dental examination and follow-ups as dental updates may occur in these cases.

Successful evaluation of a new image-based parameter for the diagnosis of carpal tunnel syndrome: ultrasound assessment of longitudinal median nerve gliding in patients, healthy volunteers, and cadavers.

Reduced longitudinal median nerve gliding is a new promising diagnostic feature in carpal tunnel syndrome (CTS). However, the complexity of existing ultrasound analysis protocols undermines the application in routine clinical practice. To provide a simple method for assessing longitudinal gliding with ultrasound, without the need for post-hoc image analysis. 1) Retrospective cohort study, validation by external blinded reviewers; 2) proof of concept in body donors. 1) Outpatient clinic; 2) anatomy department. The population included 48 patients with idiopathic CTS diagnosed by electrodiagnostic testing and ultrasound, as well as 15 healthy controls. Twelve, non-frozen, non-embalmed body donors were enrolled. Longitudinal gliding of the median nerve in the carpal tunnel was visualized in all patients with idiopathic CTS and healthy controls. All ultrasound videos were pseudonymized, equipped with a scale, and randomized. Videos were analyzed by four independent radiologists, all blinded to clinical characteristics. The endpoint was gliding rated as millimeters. Validity of the technique was tested by using speckle tracking software, and in body donors, directly measuring nerve excursion in situ, simultaneously to ultrasound. Gliding differed significantly between controls and patients with CTS, decreasing with incremental CTS severity. A cut-off value of 3.5 mm to identify patients with CTS, yielded 93.8% sensitivity and 93.3% specificity. Intraclass correlation coefficient among senior author and raters was 0.798 (95% CI 0.513 to 0.900, P<0.001), indicating good reliability. Speckle tracking and especially direct validation in body donors correlated well with ultrasound findings. First, longitudinal median nerve gliding can reliably be assessed using this simple technique without the need for complicated procedures. Second, a decrease in gliding was found with progressive severity of CTS. Reproducibility for measured distances is good among raters. An easy to apply sonography parameter would bolster the diagnostic ability of specialists in physical medicine and rehabilitation in daily routine.

Posterior Reversible Encephalopathy Syndrome After Inadvertent Dural Puncture Vs Bupivacaine-Induced Adverse Drug Reaction: A Case Report

A case involving a 29-year-old female patient with a known case of hypothyroidism at 38 weeks gestation. She developed a fronto-occipital, postural type of headache. This ensued on the second postoperative day after undergoing an unintended dural puncture with the introducer needle during spinal anesthesia for an elective cesarean section. It was initially treated as a post-dural puncture headache until she developed generalized tonic–clonic seizures the next day. Magnetic resonance imaging (MRI) of the brain exhibited features of posterior reversible encephalopathy syndrome (PRES). With anticonvulsants and antibiotics, the neurological symptoms subsided, and the patient was discharged home symptom-free. We call attention to the importance of suspecting PRES in obstetric cases with an inadvertent dural puncture in a normotensive patient. Neuroimaging plays a crucial role in making a diagnosis of headaches, especially during the peripartum period. Lastly, keeping in view, the potential medicolegal implications in such cases, further research seems vital, especially in the Asian population.

Clinical Spectrum of Acute Post-streptococcal Glomerulonephritis in Children: A Kashmir Experience.

Background In the pediatric population, acute post-streptococcal glomerulonephritis (PSGN) is a common glomerular etiology of hematuria and acute hypertension leading to hospitalization. We conducted this study to know the clinical profile and occurrence of acute PSGN in patients presenting with features of acute nephritic syndrome. Methods This prospective observational study was conducted on children aged between two and 18 years, presenting with clinical features of acute glomerular nephritis (AGN). After due ethical considerations, all eligible patients were enrolled and underwent detailed clinical assessment, laboratory, and imaging evaluation, followed by protocolized treatment. Relevant data were collected and analyzed to reach valid results. Results Out of 60 patients with AGN, PSGN was found in 83.3% of the patients (50/60). The age group under five years wasthe most commonly involved, with a male/female ratio of 1.6:1. Around half of the studied patients were from the lower middle class, and 40 (80%) were from rural backgrounds. Facial puffiness was the most common clinical presentation, seen in 45 (90%) patients. Hypocomplementemia and proteinuria were seen in all PSGN patients. Pyoderma was the most common preceding infection, seen in 38 (76%) patients, followed by pharyngitis. Acute kidney injury (AKI) was the most common complication, seen in 12 (24%) patients. Complete resolution of the signs and symptoms was seen in 37 (74%) patients at the time of discharge, which increased to 47 (94%) patients at six months post discharge. Conclusion PSGN stands to be the most common cause of pediatric AGN. The population under five years of age, with a past history of pyoderma, is more predisposed to PSGN. The potential for the occurrence of AKI and other life-threatening complications is high, for which early diagnosis and institution of proper treatment would be very beneficial.

Modeling lung endothelial dysfunction in sepsis-associated ARDS using a microphysiological system.

Endothelial dysfunction is a critical feature of acute respiratory distress syndrome (ARDS) associated with higher disease severity and worse outcomes. Preclinical invivo models of sepsis and ARDS have failed to yield useful therapies in humans, perhaps due to interspecies differences in inflammatory responses and heterogeneity of human host responses. Use of microphysiological systems (MPS) to investigate lung endothelial function may shed light on underlying mechanisms and targeted treatments for ARDS. We assessed the response to plasma from critically ill sepsis patients in our lung endothelial MPS through measurement of endothelial permeability, expression of adhesion molecules, and inflammatory cytokine secretion. Sepsis plasma induced areas of endothelial cell (EC) contraction, loss of cellular coverage, and luminal defects. EC barrier function was significantly worse following incubation with sepsis plasma compared to healthy plasma. EC ICAM-1 expression, IL-6 and soluble ICAM-1 secretion increased significantly more after incubation with sepsis plasma compared with healthy plasma. Plasma from sepsis patients who developed ARDS further increased IL-6 and sICAM-1 compared to plasma from sepsis patients without ARDS and healthy plasma. Our results demonstrate the proof of concept that lung endothelial MPS can enable interrogation of specific mechanisms of endothelial dysfunction that promote ARDS in sepsis patients.

Edward’s syndrome neonate, a management conundrum of an anaesthesiologist

Chromosomal disorders manifest with multiple congenital anomalies, which is associated with high morbidity as well as mortality. Trisomy 18 also known as Edward’s syndrome is a rare chromosomal disorder. We report a case of Edwards’ syndrome in a 15-day-old female neonate, with typical syndromic features. Infant’s clinical condition was superimposed by respiratory distress, necessitating a comprehensive, multidisciplinary management involving neonatologist, anesthesiologists, and orthopedic specialists. Considering the intricacies of Edwards’ syndrome and hence contributing to refining protocol for enhanced care and meticulous support. Furthermore, emphasizes the requirement for further research to advance understanding of the clinical condition and propagate future management.

The Hao-Fountain syndrome protein USP7 regulates neuronal connectivity in the brain via a novel p53-independent ubiquitin signaling pathway.

Precise control of protein ubiquitination is essential for brain development, and hence, disruption of ubiquitin signaling networks can lead to neurological disorders. Mutations of the deubiquitinase USP7 cause the Hao-Fountain syndrome (HAFOUS), characterized by developmental delay, intellectual disability, autism, and aggressive behavior. Here, we report that conditional deletion of USP7 in excitatory neurons in the mouse forebrain triggers diverse phenotypes including sensorimotor deficits, learning and memory impairment, and aggressive behavior, resembling clinical features of HAFOUS. USP7 deletion induces neuronal apoptosis in a manner dependent of the tumor suppressor p53. However, most behavioral abnormalities in USP7 conditional mice persist despite p53 loss. Strikingly, USP7 deletion in the brain perturbs the synaptic proteome and dendritic spine morphogenesis independently of p53. Integrated proteomics analysis reveals that the neuronal USP7 interactome is enriched for proteins implicated in neurodevelopmental disorders and specifically identifies the RNA splicing factor Ppil4 as a novel neuronal substrate of USP7. Knockdown of Ppil4 in cortical neurons impairs dendritic spine morphogenesis, phenocopying the effect of USP7 loss on dendritic spines. These findings reveal a novel USP7-Ppil4 ubiquitin signaling link that regulates neuronal connectivity in the developing brain, with implications for our understanding of the pathogenesis of HAFOUS and other neurodevelopmental disorders.

Cancer risk in individuals with polydactyly: a Swedish population-based cohort study

BackgroundPolydactyly is a feature of several cancer predisposition syndromes (CPS), however, cancer risk in individuals with polydactyly is largely unknown.MethodsWe performed a matched cohort study using data from Swedish national registers. We included 6694 individuals with polydactyly, born in Sweden between 1970–2017. Polydactyly was categorised as thumb polydactyly, finger polydactyly, polydactyly+ (additional birth defects and/or intellectual disability) or isolated polydactyly. Each exposed individual was matched to 50 comparisons by sex, birth year and birth county. Associations were estimated through Cox proportional hazard models.FindingsAn increased childhood cancer risk was found in males (HR 4.24, 95% CI 2.03–8.84) and females (HR 3.32, 95% CI 1.44–7.63) with polydactyly+. Isolated polydactyly was associated with cancer in childhood (HR 1.87, 95% CI 1.05–3.33) and young adulthood (HR 2.30, 95% CI 1.17–4.50) in males but not in females. The increased cancer risk remained after exclusion of two known CPS: Down syndrome and neurofibromatosis. The highest site-specific cancer risk was observed for kidney cancer and leukaemia.ConclusionsAn increased cancer risk was found in individuals with polydactyly, especially in males and in individuals with polydactyly+. We encourage future research about polydactyly and cancer associations and emphasise the importance of clinical phenotyping.

Association of elevated circulating monocyte-platelet aggregates with hypercoagulability in patients with nephrotic syndrome

BackgroundHypercoagulability emerges as a central pathological feature and clinical complication in nephrotic syndrome. Increased platelet activation and aggregability are closely related to hypercoagulability in nephrotic syndrome. Monocyte-platelet aggregates (MPAs) have been proposed to represent a robust biomarker of platelet activation. The aim of this study was to investigate levels of the circulating MPAs and MPAs with the different monocyte subsets to evaluate the association of MPAs with hypercoagulability in nephrotic syndrome.MethodsThirty-two patients with nephrotic syndrome were enrolled. In addition, thirty-two healthy age and sex matched adult volunteers served as healthy controls. MPAs were identified by CD14 monocytes positive for CD41a platelets. The classical (CD14 + + CD16-, CM), the intermediate (CD14 + + CD16+, IM) and the non-classical (CD14 + CD16++, NCM) monocytes, as well as subset specific MPAs, were measured by flow cytometry.ResultsPatients with nephrotic syndrome showed a higher percentage of circulating MPAs as compared with healthy controls (p < 0.001). The percentages of MPAs with CM, IM, and NCM were higher than those of healthy controls (p = 0.012, p < 0.001 and p < 0.001, respectively). Circulating MPAs showed correlations with hypoalbuminemia (r=-0.85; p < 0.001), hypercholesterolemia (r = 0.54; p < 0.001), fibrinogen (r = 0.70; p < 0.001) and D-dimer (r = 0.37; p = 0.003), but not with hypertriglyceridemia in nephrotic syndrome. The AUC for the prediction of hypercoagulability in nephrotic syndrome using MPAs was 0.79 (95% CI 0.68–0.90, p < 0.001). The sensitivity of MPAs in predicting hypercoagulability was 0.71, and the specificity was 0.78.ConclusionIncreased MPAs were correlated with hypercoagulability in nephrotic syndrome. MPAs may serve as a potential biomarker for thrombophilic or hypercoagulable state and provide novel insight into the mechanisms of anticoagulation in nephrotic syndrome.

Pathogenetic and clinical-neurological features of post-COVID syndrome

Despite the developed methods of treatment and prevention of COVID-19, new strains of the SARS-CoV-2 virus continue to appear. The development of complications from various organs and systems against the background of the coronavirus infection COVID-19 is noted. In patients with three or more chronic diseases, the infection can occur with varying degrees of severity, often leading to the formation of acute vascular accidents. Such patients have an unfavorable rehabilitation prognosis due to the severe course of the disease. The complex of symptoms manifested by various psycho-emotional and functional disorders after the coronavirus infection is called post-COVID syndrome. This syndrome develops 3–4 months after COVID-19 infection. The scientific community has put forward a number of hypotheses describing the pathogenetic features of the post-COVID syndrome. It has been proven that the development of this syndrome is associated with the main pathogenetic mechanisms and course of COVID-19, specifically, a disorder in the hemostasis system and hyperproduction of inflammatory cytokines with the development of a «cytokine storm». Post-COVID syndrome is characterized by a wide range of symptoms, the manifestation of which does not depend on the severity of previous COVID-19. However, there is a more severe manifestation of the post-COVID syndrome, with the risk of developing acute vascular accidents, in patients with chronic pathology of the cardiovascular system. The article presents an analysis of modern literature data on the clinical and neurological features of the development and course of post-COVID syndrome.

Suppression of eEF2 phosphorylation alleviates synaptic failure and cognitive deficits in mouse models of Down syndrome.

Cognitive impairment is a core feature of Down syndrome (DS), and the underlying neurobiological mechanisms remain unclear. Translation dysregulation is linked to multiple neurological disorders characterized by cognitive impairments. Phosphorylation of the translational factor eukaryotic elongation factor 2 (eEF2) by its kinase eEF2K results in inhibition of general protein synthesis. We used genetic and pharmacological methods to suppress eEF2K in two lines of DS mouse models. We further applied multiple approaches to evaluate the effects of eEF2K inhibition on DS pathophysiology. We found that eEF2K signaling was overactive in the brain of patients with DS and DS mouse models. Inhibition of eEF2 phosphorylation through suppression of eEF2K in DS model mice improved multiple aspects of DS-associated pathophysiology including de novo protein synthesis deficiency, synaptic morphological defects, long-term synaptic plasticity failure, and cognitive impairments. Our data suggested that eEF2K signaling dysregulation mediates DS-associated synaptic and cognitive impairments. Phosphorylation of the translational factor eukaryotic elongation factor 2 (eEF2) is increased in the Down syndrome (DS) brain. Suppression of the eEF2 kinase (eEF2K) alleviates cognitive deficits in DS models. Suppression of eEF2K improves synaptic dysregulation in DS models. Cognitive and synaptic impairments in DS models are rescued by eEF2K inhibitors.

Jaffe-Campanacci syndrome; a case series and review of the literature

BackgroundJaffe-Campanacci syndrome is a rare syndrome, characterized by multiple non-ossifying fibromas (NOF) and cafe-au-lait patches. The name was coined in 1982 by Mirra after Jaffe who first described the case in 1958. Although it’s suggested there is a relation with Neurofibromatosis type 1, there is still no consensus on whether Jaffe-Campanacci syndrome is a subtype or variant of neurofibromatosis-1(NF-1).Case presentationIn this article, we present a case series of 2 patients. The first case is a 13-year-old male with Jaffe-Campanacci syndrome who presented with a distal femur fracture. His father had positive features of both Jaffe-Campanacci syndrome and NF-1, while his sister only had features of NF-1, so we presented both.ConclusionJaffe-Campanacci has a clear relationship with type 1 neurofibromatosis, which still has to be genetically established. Due to the presence of several large non-ossifying fibromas of the long bones, it is linked to a significant risk of pathological fractures. We concur with previous authors, that an osseous screening program should be performed for all patients with newly diagnosed type 1 neurofibromatosis, to identify non-ossifying fibromas and assess the potential for pathological fracture. Moreover, siblings of patients with NF-1 should be screened for multiple NOFs that may carry a high risk of pathological fractures.

Neurodevelopmental Outcomes of Preschoolers with Antenatal Zika Virus Exposure Born in the United States.

Neurodevelopmental outcomes for preschool-age children in the United States with in utero Zika virus (ZIKV) exposure have not yet been reported. We performed a case-control study to assess whether children exposed in utero to ZIKV have abnormal neurodevelopment at age 4-5 years compared to unexposed controls. Thirteen ZIKV-exposed cases that did not have microcephaly or other specific features of congenital Zika syndrome and 12 controls were evaluated between ages 4-5 years. Child neurodevelopment was assessed using the Pediatric Evaluation of Disability Inventory, Behavior Rating Inventory of Executive Function, Peabody Picture Vocabulary Test, Bracken School Readiness Assessment (BSRA), and Movement Assessment Battery for Children (MABC). Caregivers answered questions on the child's medical history and family demographics. Cases and controls were evaluated at mean (SD) ages 4.9 (0.3) and 4.8 (0.4) years, respectively. Caregivers reported more behavior and mood problems in cases than controls. MABC scores showed more gross and fine motor coordination difficulties among cases than controls. Controls trended towards higher performance on concepts underlying school readiness on BSRA. Three cases had a diagnosis of autism spectrum disorder or global developmental delay. Continued follow-up through school age for children with prenatal ZIKV exposure is needed to understand the impact of in utero ZIKV exposure on motor coordination, cognition, executive function, and academic achievement.

Complex psychological evaluation and correction methods of disorders in the emotional and personal sphere in children with post-COVID syndrome, considering structural and functional features of the brain

Complex psychological evaluation and correction methods of disorders in the emotional and personal sphere in children with post-COVID syndrome, considering structural and functional features of the brain

The association between female sexual function and metabolic features of the polycystic ovary syndrome in Turkish women of reproductive age

Objective To investigate the association between female sexual function and metabolic features among women with polycystic ovary syndrome (PCOS) during reproductive age. Method This was a cross-sectional study in which 288 women with PCOS and 180 women without PCOS between the ages of 20 and 40 years were evaluated. All women had serum total testosterone, androstenedione, DHEA-S, fasting glucose, total cholesterol, HDL-C, LDL-C, and triglyceride levels analyzed. The McCoy Female Sexual Questionnaire (MFSQ) was applied to all studied women. Exploratory factor analysis and reliability analysis were done after data collection. The factor loadings of MFSQ domains were compared between women with PCOS and controls. Results Average factor loadings of the MFSQ sexuality domain and MFSQ sexual partner domain were significantly lower in the PCOS group when compared to controls. There was no correlation between the two sexual function domains of the MFSQ and the PCOS features either in the PCOS group or the controls. Conclusion PCOS is a heterogeneous disease with different metabolic components, such as insulin resistance, obesity, and hyperandrogenism. Although sexual function among women with PCOS was lower than controls, no differences were found in metabolic features of the PCOS and non-PCOS groups with relation to sexual function determined by the MFSQ.

A novel SALL1 C757T mutation in a Chinese family causes a rare disease --Townes-Brocks syndrome

BackgroundTownes-Brocks syndrome (TBS) is a rare genetic disorder characterized by imperforate anus, dysplastic ears, thumb malformations, and other abnormalities. Previous studies have revealed that mutations in the SALL1 gene can disrupt normal development, resulting in the characteristic features of Townes-Brocks syndrome. Spalt-like transcription factors (SALLs) are highly conserved proteins that play important roles in various cellular processes, including embryonic development, cell differentiation, and cell survival. Over 400 different variants or mutations have been reported in the SALL1 gene in individuals with TBS. Most of these variants lead to the formation of premature termination codons (PTCs), also known as nonsense mutations. The majority of these PTCs occur in a specific region of the SALL1 gene called the “hotspot region”, which is particularly susceptible to mutation.MethodsIn this study, we conducted whole-exome sequencing on a three-generation Chinese family with anorectal malformations.ResultsWe identified a novel heterozygous mutation (chr16:51175376:c.757 C > T p.Gln253*) in the SALL1 gene. Molecular analysis revealed a heterozygous C to T transition at nucleotide position 757 in exon 2 of the SALL1 (NM_002968) gene. This mutation is predicted to result in the substitution of the Gln253 codon with a premature stop codon (p.Gln253*). The glutamine-rich domain forms a long alpha helix, enabling the mutant protein to interact with the wild-type SALL1 protein. This interaction may result in steric hindrance effects on the wild-type SALL1 protein.ConclusionsOur findings have expanded the mutation database of the SALL1 gene, which is significant for genetic counseling and clinical surveillance in the affected family. Furthermore, our study enhances the understanding of Townes-Brocks syndrome and has the potential to improve its diagnosis and treatment.

Co-Existence of Dry Mouth, Xerostomia, and Focal Lymphocytic Sialadenitis in Patients with Sjögren’s Syndrome

Background: Some patients with Sjögren’s syndrome (SS) do not develop xerostomia despite advanced involvement of the salivary glands and the presence of focal lymphocytic sialadenitis (FLS). The aim of the study is to determine possible correlations between xerostomia, symptoms of sicca syndrome, FLS, and other features in SS patients. Methods: The study group comprised 50 patients with SS. The comprehensive assessment of patients included clinical, laboratory, and serological examinations. All patients underwent labial salivary gland biopsies. Dry mouth and dry eyes were assessed by unstimulated whole salivary flow rate (USWSF) and Schirmer’s test, respectively. Results: Xerostomia and xerophthalmia are closely related components of sicca syndrome. Xerostomia did not correlate with any serological or laboratory values, including ANA titers, SSA, SSB, Ro52 antibodies, rheumatoid factor, C-reactive protein, and Erythrocyte Sedimentation Rate. There were no correlations between xerostomia and FLS or Focus score. USWSF results correlated with xerostomia reported by patients, contrary to Schirmer’s test, which did not correlate with xerophthalmia. Conclusions: Dry mouth in SS is independent of any serological or inflammatory parameters. The occurrence of FLS does not determine xerostomia and its severity. Dry mouth in SS is influenced by other undetermined factors and mechanisms independent of salivary gland involvement.

The Graded Incomplete Letters Test (GILT): a rapid test to detect cortical visual loss, with UK Biobank implementation

Impairments of object recognition are core features of neurodegenerative syndromes, in particular posterior cortical atrophy (PCA; the ‘visual-variant Alzheimer’s disease’). These impairments arise from damage to higher-level cortical visual regions and are often missed or misattributed to common ophthalmological conditions. Consequently, diagnosis can be delayed for years with considerable implications for patients. We report a new test for the rapid measurement of cortical visual loss – the Graded Incomplete Letters Test (GILT). The GILT is an optimised psychophysical variation of a test used to diagnose cortical visual impairment, which measures thresholds for recognising letters under levels of increasing visual degradation (decreasing "completeness") in a similar fashion to ophthalmic tests. The GILT was administered to UK Biobank participants (total n=2,359) and participants with neurodegenerative conditions characterised by initial cortical visual (PCA, n=18) or memory loss (typical Alzheimer’s disease, n=9). UK Biobank participants, including both typical adults and those with ophthalmological conditions, were able to recognise letters under low levels of completeness. In contrast, participants with PCA consistently made errors with only modest decreases in completeness. GILT sensitivity to PCA was 83.3% for participants reaching the 80% accuracy cut-off, increasing to 88.9% using alternative cut-offs (60% or 100% accuracy). Specificity values were consistently over 94% when compared to UK Biobank participants without or with documented visual conditions, regardless of accuracy cut-off. These first-release UK Biobank and clinical verification data suggest the GILT has utility in both rapidly detecting visual perceptual losses following posterior cortical damage and differentiating perceptual losses from common eye-related conditions.

Clinical experience of JIAO Lin in treatment of knee osteoarthritis with manual mobilization of meridian muscle regions

The paper introduces JIAO Lin's clinical experience in treatment of knee osteoarthritis (KOA) by manual mobilization of meridian muscle regions. Professor JIAO Lin believes that the key to the occurrence and development of KOA lies in the disorder of meridian muscle regions (sinews/fascia). In pathology, four stages are divided, i.e. the acute stage, the blockage stage, the contraction stage and the atrophy stage of muscle regions, characterized as multi-layer, multi-dimensional and multi-morphological distribution. In treatment, based on the principle, "taking pain sites as stimulating points", the sites, with reduced pain threshold and distributed along the meridian muscle regions, are regarded as "acupoints" for intervention. Manual mobilization of meridian muscle regions is the dominant approach, combined with routine acupuncture, heat-sensitive moxibustion, cupping and bloodletting corresponding to the features of syndromes and meridian manifestation at different stages. The comprehensive treatment may restore and reconstruct the physiological functions of the meridian muscle regions around knee joints by "nourishing tendons, strengthening bones and benefiting joints".