Syndrome Group Research Articles

Limb circumference measurements contributing to the diagnosis of snake venom-induced compartment syndrome

BackgroundThe present study aimed to investigate the relationship between swollen limb circumference and compartment pressure after a snakebite and to evaluate the diagnostic value of the circumference difference between the healthy and affected sides and the circumference growth rate for snake venom-induced compartment syndrome (CS). MethodThe study was based on a prospective cohort study of snakebite patients at the emergency department of West China Hospital from May 2021 to October 2022. The snakebite patients were divided into the CS and non-compartment syndrome (NCS) groups. The diagnostic value of the circumference of the swollen limb for the CS after snakebite was evaluated using a receiver-operating characteristic curve analysis, and the cut-off value of the circumference of the swollen limb for CS after snakebite was calculated with sensitivity and specificity. ResultThe present study enrolled 115 patients with severely swollen limbs after snakebite. The mean age was 59.1 ± 13.6 years, with 58 (50.4 %) female cases and 57 (49.6 %) male cases. There were 33 (28.7 %) cases where the upper limbs were injured and 82 (71.3 %) cases where the lower limbs were injured. These patients were divided into CS (n = 19) and NCS (n = 96) groups. The area under the curve (AUC) for the 15 cm circumference difference and circumferential growth rate of the upper edge of the patella was 0.683 (95 % CI 0.508 to 0.858, P = 0.037), and 0.685 (95 % CI 0.512 to 0.858, P = 0.035). The optimal cut-off values for the 15 cm circumference difference and circumferential growth rate of the upper edge of the patella to distinguish CS and NCS were 2.8 cm (sensitivity = 76.9 %, specificity = 66.7 %) and 7 % (sensitivity = 76.9 %, specificity = 66.7 %), respectively. ConclusionLimb circumference measurement is a non-invasive, convenient, effective, and repeatable bedside test that can assist clinicians in the early detection of suspected snake venom-induced CS in patients exhibiting limb swelling after snake bites.

Life outcomes in adults living with FASD in a rural South African community: A follow-up study.

Even though adults with foetal alcohol spectrum disorder (FASD) are at risk of negative life outcomes, there is no published evidence of this in South Africa, which has the highest estimated FASD prevalence rate globally. The purpose of the study was to describe and compare the life outcomes of adults with FASD and adults without FASD in a South African rural community, 16 years after diagnosis. Participants were examined and interviewed regarding their biographical information, knowledge of FASD, information on their family, relationships, home circumstances, education, work and medical history. Adults with FASD were less likely to be in a relationship and more likely to have poor educational outcomes and to be exposed to violence as victim or perpetrator than their peers who did not have FASD. None of the participants with FASD completed secondary school successfully. No differences were found for independent living, employment, health, substance use and legal outcomes, between the foetal alcohol syndrome (FAS) or partial foetal alcohol syndrome (PFAS) and control group. While significant differences existed in certain aspects, differences are not as stark as one would expect between individuals with FASD and controls. This study highlights the importance of considering the social context in which a FASD diagnosis is made. The comparative negative impact of an FASD diagnosis and the associated challenges on life outcomes may be less pronounced in rural communities where everyone has fewer opportunities and resources. This can also make the unique needs of persons with disabilities less visible.

The correlation between HOMA-IR and cardiometabolic risk index among different metabolic adults: a cross-sectional study.

This study aimed to explore the correlation between homeostasis model assessment of insulin resistance(HOMA-IR)and cardiometabolic risk index(CMRI) among different metabolic adults to evaluate the value of HOMA-IR in predicting cardiometabolic risk. This cross-sectional study was conducted over 18 months (from August 1, 2020 to February 18, 2022) and included 1550 participants divided into non-metabolic syndrome (non-MetS) group (n = 628) and metabolic syndrome (MetS) group (n = 922) in three centers of China. Logistic regression analysis was employed to investigate the correlation between HOMA-IR, body fat percentage, BMI (body mass index), visceral fat index, waist-to-hip ratio, vitamin D, and CMRI. Further analysis was conducted to evaluate the ability of HOMA-IR in diagnosing high CMRI within different metabolic, gender, and age groups to predict the risk of cardiovascular disease (CVD). HOMA-IR was significantly higher in the MetS group compared with the non-MetS group (P < 0.05). CMRI was significantly higher in the MetS group compared to the non-MetS group (P < 0.05). According to ROC curve analysis, HOMA-IR can predict cardiovascular risk (CVR) in the general population, non-MetS individuals, and MetS people. Logistic regression analysis revealed that BMI, visceral fat index, waist-to-hip ratio, and HOMA-IR are independent risk indicators of high CVR, whereas vitamin D may exert a protective role. HOMA-IR was an independent risk factor for increased CVR in MetS patients. Moreover, HOMA-IR elevates the risk of CVD regardless of MetS and thus can be used for screening the general population. The study was registered at the Chinese Clinical Trial Registry (Registration Number: ChiCTR2100054654).

Understanding the variant landscape, and genetic epidemiology of Multiple Endocrine Neoplasia in India.

Multiple Endocrine Neoplasia (MEN) is a group of familial cancer syndromes that encompasses several types of endocrine tumors differentiated by genetic mutations in RET, MEN1 and CDKN1B genes. Accurate diagnosis of MEN subtypes can thus be performed through genetic testing. However, MEN variants remain largely understudied in Indian populations. Additionally, few dedicated resources to understand these disorders currently exist. Using the gold-standard ACMG/AMP guidelines, we systematically classified variants reported across the three genes in the IndiGen dataset, and established the genetic epidemiology of MEN in the Indian population. We further classified ClinVar and Mastermind variants and compiled all into a database. Finally, we designed a multiplex primer panel for rapid variant identification. We have established the genetic prevalence of MEN as the following: 1 in 1026 individuals is likely to be afflicted with MEN linked with pathogenic RET mutations. We have further created the MAPVar database containing 3280 ACMG-classified variants freely accessible at: https://clingen.igib.res.in/MAPVar/ . Finally, our NGS primer panel covers 33 exonic regions across two pools through 38 amplicons with a total amplified region of 65 kb. Our work establishes that MEN is a prevalent disorder in India. The rare nature of Indian variants underscores the need of genomic and functional studies to establish a more comprehensive variant landscape. Additionally, our panel offers a means of cost-effective genetic testing, and the MAPVar database a ready reference to aid in a better understanding of variant pathogenicity in clinical as well as research settings.

The Relationship of Physical Activity with Restless Legs Syndrome in Chronic Kidney Disease Patients in the Hemodialysis Room of Subang District Hospital

Restless legs syndrome (RLS) is a sensorimotor disorder that affects a person's desire to move the legs. Physical activity is considered to be one way to reduce RLS symptoms. The purpose of this study was to analyze the relationship of physical activity with RLS in patients with chronic kidney disease (CKD) in the hemodialysis room of RSUD Kab Subang. This research is a type of quantitative research, correlational descriptive research design using cross-sectional. The sample in this study was 62 respondents, with purposive sampling techniques. Data collection using the Global Physical Activity Questionaire (GPAQ) and International Restless Legs Syndrome Group (IRLS) questionnaires, and data analysis using the spearmen rank test. The results showed that most respondents had a low level of physical activity, with a prevalence of 64.5%, and most respondents experienced severe symptoms of RLS, with a prevalence of 40.3%. Statistical tests show that there is a relationship between the physical activity variable and RLS (p-value 0.001), with the coefficient value is -0.741. It can be concluded that there is a solid relationship between physical activity and RLS in CKD patients in the hemodialysis room of RSUD Kab Subang with an antagonistic relationship direction. It is expected that nurses can intervene in chronic kidney disease patients to perform physical activity in accordance with their ability to reduce RLS.

Association of sleep timing, sleep duration, and sleep latency with metabolic syndrome in middle-aged adults in Korea: A cross-sectional and longitudinal study

ObjectiveSleep is a potential risk factor for metabolic syndrome. We investigated the associations of various sleep characteristics with the status and incidence of metabolic syndrome in middle-aged Koreans. MethodsUsing data from a community-based Korean Medicine Daejeon Citizen Cohort study on participants aged 30-50years, cross-sectional (n = 1984) and longitudinal (n = 1216, median follow-up: 2.1years) analyses were performed. To study the association of metabolic syndrome and five components with various sleep characteristics, measured using the Pittsburgh Sleep Quality Index, we used Poisson and logistic regression and Cox proportional hazard regression analyses, adjusting for covariates. ResultsOf 1984 participants, 66%, 19%, and 15% belonged to the non-metabolic syndrome, pre-metabolic syndrome, and metabolic syndrome groups, respectively. After covariate adjustments, the pre-metabolic syndrome group was associated with late mid-sleep time (≥5:00; prevalence ratios 1.61, 95% confidence interval 1.01-2.54) and late bedtime (≥2:00; prevalence ratios 1.55, 95% confidence interval 1.03-2.34), and the metabolic syndrome group was associated with long sleep latency (prevalence ratios 1.33, 95% confidence interval 1.03-1.73), poor sleep quality (prevalence ratios 1.38, 95% confidence interval 1.07-1.78), and early wake time (<6:00; prevalence ratios 1.29, 95% confidence interval 1.01-1.63). Longitudinal analysis of participants without metabolic syndrome at baseline indicated a significant increase in metabolic syndrome risk associated with very short sleep duration (<6 hours; hazard ratio 1.72, 95% confidence interval 1.06-2.79), long sleep latency (>30 minutes; hazard ratio 1.86, 95% confidence interval 1.1-3.12), and early wake time (<6:00 o’clock; hazard ratio 1.73, 95% confidence interval 1.01-2.97). ConclusionSleep characteristics, such as short duration, long latency, and early wake time, were associated with an increased risk of metabolic syndrome in middle-aged adults.

Cyberchondria Levels in Adolescent Patients With Polycystic Ovary Syndrome in the Digital Age

Study objectiveCyberchondria is defined as a form of anxiety characterized by excessive health searches on the Internet. Our aim in this study is to investigate the extent of cyberchondria in adolescents with polycystic ovary syndrome and to compare them with adolescents of the same age. Methods426 adolescents who presented to clinic between April 2023 and September 2023 and agreed to participate in the study were included in the study. Patients were divided into two groups: polycystic ovary syndrome (PCOS) group (135 patients) and control group (291 patients). The Cyberchondria Severity Scale (CSS) was administered to participants face-to-face. The CSS and subscale scores of both patient groups were analyzed and compared. ResultsTotal CSS scores were significantly different between groups (p=.007) with a mean value of 72 (59-83) in the control group and 77 (63-91) in the PCOS group. When cyberchondria subscales were analysed, statistical difference was found between the groups in the subcategories of compulsion (p:0.015), distress (p:0.039), excessiveness (p:0.028) and mistrust of medical professional (p:0.005). ConclusionsAdolescents with PCOS demonstrated higher levels of cyberchondria which could aggravate associated symptoms of anxiety and depression. Health providers should be mindful to evaluate internet use in this patient population and provide anticipatory guidance.

Feasibility and Potential Diagnostic Value of Noncontrast Brain MRI in Nonsedated Children With Sturge-Weber Syndrome and Healthy Siblings.

Postcontrast magnetic resonance imaging (MRI), obtained under anesthesia, is often used to evaluate brain parenchymal and vascular abnormalities in young children, including those with Sturge-Weber syndrome. However, anesthesia and contrast administration may carry risks. We explored the feasibility and potential diagnostic value of a noncontrast, nonsedate MRI acquisition in Sturge-Weber syndrome children and their siblings with a wide range of cognitive and behavioral functioning. Twenty children (10 with Sturge-Weber syndrome and 10 healthy siblings; age: 0.7-13.5 years) underwent nonsedate 3-tesla (T) brain MRI acquisition with noncontrast sequences (including susceptibility-weighted imaging) prospectively along with neuropsychology assessment. All images were evaluated for quality, and MRI abnormalities identified in the Sturge-Weber syndrome group were compared to those identified on previous clinical pre- and postcontrast MRI. Nineteen participants (95%) completed the MRI with good (n = 18) or adequate (n = 1) quality, including all children with Sturge-Weber syndrome and all 5 children ≤5 years of age. The Sturge-Weber syndrome group had lower cognitive functions than the controls, and both groups had several children with behavioral issues, without an apparent effect on the success and quality of the MR images. Susceptibility-weighted imaging detected key venous vascular abnormalities and calcifications and, along with the other noncontrast sequences, provided diagnostic information comparable to previous clinical MRI performed with contrast administration under anesthesia. This study demonstrates the feasibility and the potential diagnostic value of a nonsedate, noncontrast MRI acquisition protocol in young children including those with cognitive impairment and/or behavioral concerns. This approach can facilitate clinical trials in children where safe serial MRI is warranted.

Characteristics of after-discharges following compound muscle action potential or F-wave in primary peripheral nerve hyperexcitability syndrome.

F-wave testing frequently reveals after-discharges of varied morphologies in patients with primary peripheral nerve hyperexcitability syndrome (PNHS), although reports are scant. This study aimed to explore the morphological characteristics of the after-discharges during F-wave tests in PNHS, and to assess the association between after-discharges and the disease classification. We conducted a retrospective analysis of patients diagnosed with PNHS between 2014 and 2022. The morphological characteristic and duration of after-discharges during F-wave tests were analyzed. After-discharges in the Morvan syndrome group were compared with those in non-Morvan group, and between groups with positive or negative voltage-gated potassium channel (VGKC) complex antibodies. Twenty-nine patients were included in the study, of which 25 exhibited after-discharges. All after-discharges in Morvan patients occurred following compound muscle action potential (CMAP). In non-Morvan patients, after-discharges occurred following F-wave (32%) and CMAP (47%). The durations of after-discharges following CMAP were significantly prolonged in Morvan (54.2 ± 18.8 ms) compared to non-Morvan patients (34.5 ± 15.0 ms). The majority of antibody-positive patients (18/20) exhibited after-discharges following CMAP, whereas 67% of antibody-negative patients (6/9) showed after-discharges following F-wave. The varying presentations of after-discharges, including their location (after CMAP or F-wave) and the duration of after-discharge can assist in clinically classifying PNHS.

Impact of mechanical barrier damage and interleukin-17 on symptoms in patients with post-infectious irritable bowel syndrome.

Aims/Background The pathogenesis of irritable bowel syndrome encompasses various factors, including abnormal gastrointestinal motility, heightened visceral sensitivity, dysfunction in the brain-gut axis, psychological influences, and disturbances in the intestinal flora. These factors manifest primarily as persistent or intermittent abdominal pain, diarrhoea, alterations in bowel habits, or changes in stool characteristics. In our investigation, we delve into the repercussions of mechanical barrier damage and immune dysfunction on symptoms among patients with post-infectious irritable bowel syndrome. Methods This study recruited a total of 20 healthy controls and 49 patients diagnosed with irritable bowel syndrome. Among the irritable bowel syndrome patients, we categorised them into two groups based on the ROME IV diagnostic criteria: the post-infectious irritable bowel syndrome group (n=23) and the non-post-infectious irritable bowel syndrome group (n=26). To compare clinical features, we utilised the Gastrointestinal Symptom Rating Scale, Self-Rating Depression Scale, and Self-Rating Anxiety Scale. Furthermore, we employed various techniques including haematoxylin and eosin (HE) staining, electron microscopy, Enzyme-linked Immunosorbent Assay, and flow cytometry to assess changes in immune cells, immune factors, inflammatory biomarkers, and intestinal barrier function. Results Under haematoxylin and eosin staining, post-infectious irritable bowel syndrome patients demonstrated increased neutrophils and plasma cells compared to the control group. Additionally, electron microscopy revealed ultrastructural changes such as the widening of the epithelial cell gap in the intestinal mucosa among post-infectious irritable bowel syndrome patients. Comparatively, the Gastrointestinal Symptom Rating Scale, Self-Rating Anxiety Scale, and Self-Rating Depression Scale scores were significantly elevated in the post-infectious irritable bowel syndrome group in contrast to both the control group and the non- post-infectious irritable bowel syndrome group (p < 0.05). Moreover, post-infectious irritable bowel syndrome patients exhibited a notably higher neutrophil-to-lymphocyte ratio compared to the control group (p < 0.05). Furthermore, the levels of interleukin-17 (IL-17) were elevated in post-infectious irritable bowel syndrome patients compared to the control group (p < 0.05). Additionally, the post-infectious irritable bowel syndrome group displayed a higher percentage of T helper 17 (Th17) cells compared to both the control and non-post-infectious irritable bowel syndrome groups (p < 0.05). Conclusion Acute gastrointestinal infection can disrupt the balance of intestinal flora, leading to dysbiosis. This dysbiosis can trigger the release of pro-inflammatory factors, including interleukin-17, which contributes to the impairment of the intestinal mucosal barrier. Consequently, this sets the stage for the development of long-lasting, mild chronic intestinal inflammation, ultimately culminating in the onset of post-infectious irritable bowel syndrome. Furthermore, within the framework of the gut-brain axis interaction, anxiety and depression may exacerbate intestinal inflammation in post-infectious irritable bowel syndrome patients. This interaction can perpetuate and prolong clinical symptoms in individuals with post-infectious irritable bowel syndrome, further complicating the management of the condition.

Left ventricular subclinical systolic myocardial dysfunction assessed by speckle-tracking in patients with Cushing's syndrome.

Two-dimensional speckle tracking echocardiography is a novel ultrasound technique, which can detect early subclinical myocardial dysfunction with high sensitivity. The purpose of this study was to explore the value of speckle tracking echocardiography in the evaluation of subclinical myocardial injury in patients with Cushing's syndrome. 35 patients with Cushing's syndrome and 29 healthy controls matched for age, sex, BMI, and systolic blood pressure were included in the study. All subjects were assessed using both conventional Doppler echocardiography and speckle tracking echocardiography. Among patients, they were further divided into inactive group (n = 7) and active group (n = 28) based on cortisol levels. Trend analysis was used among patients in different disease activity. Correlation analysis and linear regression analysis were used to explore influence factors related to subclinical myocardial dysfunction. Left ventricular ejection fraction value showed no statistical difference between patients Cushing's syndrome and control group. However, GLS and LVSD, show significant differences in Cushing's syndrome group. Also, among active Cushing's syndrome group, inactive Cushing's syndrome group and control group, GLS (-15.4 ± 3.0 vs -18.1 ± 3.1 vs-19.4 ± 2.4, P < 0001) and LVSD (48.9 ± 21.5 vs 43.5 ± 17.9 vs 28.5 ± 8.3, P < 0001) changed significantly with the disease activity status. In addition, GLS and LVSD were both linearly corrected with 24-hour urinary cortisol level. GLS and LVSD are sensitive parameters in detecting and monitoring subclinical myocardial systolic dysfunction in patients with Cushing's syndrome. Myocardial injury is linearly correlated with cortisol level, which can be partially reversed after the biochemical control of cortisol.

Early outcomes of minimal invasive surgery via the axillary approach for complex congenital heart disease at the Cardiovascular Center - E hospital

Objective: This study aims to outline the initial outcomes of implementing minimally invasive surgery via the right axillary approach to completely repair complex congenital heart diseases. Summary: Minimally invasive surgical techniques have gained widespread adoption in managing simple congenital heart diseases such as atrial septal defect, ventricular septal defect, partial atrioventricular septal defect, cor triatriatum, and partial anomalous pulmonary venous return. Postoperative results have demonstrated equivalence, if not superiority, to traditional sternotomy procedures while offering enhanced cosmetic benefits. However, for more intricate congenital heart conditions such as tetralogy of Fallot (TOF), complete atrioventricular septal defect (CAVSD), and Ebstein syndrome, this study evaluates the early outcomes of employing minimally invasive surgery via the right axillary approach, a technique that remains relatively uncommon globally. Our study seeks to assess the initial outcomes of this approach in managing complex congenital heart diseases. Subjects and methods: descriptive method based on a series of cases. From April 2023 to December 2023, 45 patients diagnosed with complex congenital heart disease underwent minimally invasive surgery utilizing the axillary approach. This cohort comprised 40 patients with tetralogy of Fallot, 3 patients with complete atrioventricular septal defect, and 2 patients with Ebstein syndrome. Results: All procedures were technically successful, without requiring sternotomy. The cardiopulmonary bypass times for the TOF, complete AVSD, and Ebstein syndrome groups were 81 minutes, 91 minutes, 96 minutes, respectively. Corresponding aortic cross - clamp times were 70 minutes, 72 minutes, and 74 minutes. There were no postoperative fatalities or significant complications. Postoperative echocardiographic evaluations demonstrated favorable outcomes. Conclusion: Minimally invasive surgery via the axillary approach for managing complex congenital heart diseases yields promising early results and offers notable cosmetic advantages.

Autism Among Adults with Down Syndrome: Prevalence, Medicaid Usage, and Co-Occurring Conditions.

Our objective was to examine occurrence of both conditions in Medicaid; and compare Medicaid service use and cost, and chronic conditions among adults with Down syndrome and autism to those with Down syndrome alone and those with autism alone. We used ICD9 and ICD10 codes in Medicaid claims and encounters from 2011 to 2019 to identify autism and Down syndrome in adults > 18 years. We then calculated costs, claims, hospitalizations, long term care days, and chronic conditions, and compared by group- autism alone, Down syndrome alone, Down syndrome + autism. Between 2011 and 2019, there were 519,450 adult Medicaid enrollees who met our criteria for autism (N = 396,426), Down syndrome (N = 116,422), or both Down syndrome and autism (N = 6,602). In 2011, 4.1% of enrollees with Down syndrome had co-occurring autism; by 2011 it was 6.6%. The autism group had the fewest claims and inpatient hospitalizations, followed by the Down syndrome group, then the Down syndrome + autism group. After age adjustment, those with Down syndrome alone and Down syndrome + autism had elevated prevalence of atrial fibrillation, dementia, heart failure, kidney disease, and obesity compared to the autism alone group. Both groups also had decreased occurrence of depression and hypertension compared to the autism alone group. Prevalence of autism is higher among people with Down syndrome than in peers. The increased costs and service use for those with both conditions highlight the extent to which this population need health care and signal the need for more effective preventative care and therapies.

Epigenetics in rare neurological diseases.

Rare neurological diseases include a vast group of heterogenous syndromes with primary impairment(s) in the peripheral and/or central nervous systems. Such rare disorders may have overlapping phenotypes, despite their distinct genetic etiology. One unique aspect of rare neurological diseases is their potential common association with altered epigenetic mechanisms. Epigenetic mechanisms include regulatory processes that control gene expression and cellular phenotype without changing the composition of the corresponding DNA sequences. Epigenetic factors include three types of proteins, the "readers, writers, and erasers" of DNA and DNA-bound proteins. Thus, epigenetic impairments of many neurological diseases may contribute to their pathology and manifested phenotypes. Here, we aim to provide a comprehensive review on the general etiology of selected rare neurological diseases, that include Rett Syndrome, Prader-Willi Syndrome, Rubinstein-Taybi Syndrome, Huntington's disease, and Angelman syndrome, with respect to their associated aberrant epigenetic mechanisms.

Comparison of the symptom networks of long-COVID and chronic fatigue syndrome: From modularity to connectionism.

The objective was to compare the symptom networks of long-COVID and chronic fatigue syndrome (CFS) in conjunction with other theoretically relevant diagnoses in order to provide insight into the etiology of medically unexplained symptoms (MUS). This was a cross-sectional comparison of questionnaire items between six groups identified by clinical diagnosis. All participants completed a 65-item psychological and somatic symptom questionnaire (GSQ065). Diagnostically labelled groups were long-COVID (N = 107), CFS (N = 254), irritable bowel syndrome (IBS, N = 369), fibromyalgia (N = 1,127), severe asthma (N = 100) and healthy group (N = 207). The 22 symptoms that best discriminated between the six groups were selected for network analysis. Connectivity, fragmentation and number of symptom clusters (statistically related symptoms) were assessed. Compared to long-COVID, the symptom networks of CFS, IBS and fibromyalgia had significantly lower connectivity, greater fragmentation and more symptom clusters. The number of clusters varied between 9 for CFS and 3 for severe asthma, and the content of clusters varied across all groups. Of the 33 symptom clusters identified over the six groups 30 clusters were unique. Although the symptom networks of long-COVID and CFS differ, the variation of cluster content across the six groups is inconsistent with a modular causal structure but consistent with a connectionist (network, parallel distributed processing) biological basis of MUS. A connectionist structure would explain why symptoms overlap and merge between different functional somatic syndromes, the failure to discover a biological diagnostic test and how psychological and behavioral interventions are therapeutic.

Diagnosis of suprascapular nerve entrapment syndrome based on the infraspinatus muscle cross-sectional area on shoulder MRI.

Suprascapular nerve entrapment (SNE) syndrome is a commonly overlooked cause of shoulder weakness and pain. It frequently causes weakness over the posterior and lateral and posterior aspects of the shoulder, as well as pain of infraspinatus muscles. Therefore, we considered that the infraspinatus muscle cross-sectional area (IMCSA) might be a new morphological parameter to analyze SNE syndrome. We assumed that the IMCSA is an important morphologic parameter in SNE syndrome diagnosis. We acquired infraspinatus muscle data from 10 patients with SNE syndrome and from 10 healthy subjects who had undergone magnetic resonance imaging of the shoulder and who revealed no evidence of SNE syndrome. We analyzed the infraspinatus muscle thickness (IMT) and IMCSA at the shoulder on the imaging of the shoulder using our image analysis program. The IMCSA was measured as the whole infraspinatus muscle cross-sectional area that was most atrophied in the sagittal S-MR images. The IMT was measured as the thickest level of infraspinatus muscle. The mean IMT was 29.17 ± 2.81 mm in the healthy subjects and 25.22 ± 3.19 mm in the SNE syndrome group. The mean IMCSA was 1321.95 ± 175.91 mm2 in the healthy group and 1048.38 ± 259.94 mm2 in the SNE syndrome group. SNE syndrome patients had significantly lower IMT (P < .001) and IMCSA (P < .001) than the healthy group. The ROC curve shows that the optimal cutoff point of the IMT was 26.74 mm, with 70.0% sensitivity, 70.0% specificity, and an AUC of 0.83 (95% CI, 0.65-1.00). The best cutoff value of the IMCSA was 1151.02 mm2, with 80.0% sensitivity, 80.0% specificity, and AUC of 0.87 (95% CI, 0.69-1.00). The IMT and IMCSA were both significantly associated with SNE syndrome. And the IMCSA was a highly sensitive diagnostic tool.

Cockayne Syndrome Linked to Elevated R-Loops Induced by Stalled RNA Polymerase II during Transcription Elongation

Mutations in the Cockayne Syndrome group B (CSB) gene cause cancer in mice, but premature aging and severe neurodevelopmental defects in humans. CSB, a member of the SWI/SNF family of chromatin remodelers, plays diverse roles in regulating gene expression and transcription-coupled nucleotide excision repair (TC-NER); however, these functions do not explain the distinct phenotypic differences observed between CSB-deficient mice and humans. During investigating Cockayne Syndrome-associated genome instability, we uncover an intrinsic mechanism that involves elongating RNA polymerase II (RNAPII) undergoing transient pauses at internal T-runs where CSB is required to propel RNAPII forward. Consequently, CSB deficiency retards RNAPII elongation in these regions, and when coupled with G-rich sequences upstream, exacerbates genome instability by promoting R-loop formation. These R-loop prone motifs are notably abundant in relatively long genes related to neuronal functions in the human genome, but less prevalent in the mouse genome. These findings provide mechanistic insights into differential impacts of CSB deficiency on mice versus humans and suggest that the manifestation of the Cockayne Syndrome phenotype in humans results from the progressive evolution of mammalian genomes.

Progeroid Cockayne Syndrome

Cockayne syndrome is a rare genetic disease from the group of premature aging syndromes associated with impaired DNA repair. The syndrome is autosomal recessive, and it is caused by pathogenic variants in ERCC8, ERCC6, XPB (ERCC3), XPD (ERCC2), and XPG (ERCC5) genes. Its prevalence is 1 case per 2.5 million people. The clinical signs include nervous, cardiovascular and musculoskeletal systems impairments, severe growth retardation, and body weight deficiency. The average life expectancy of these patients varies from 5 to 30 years and depends on the disease type and severity. There is no pathogenetic treatment. This article presents the results of the latest research on the disease diagnosis and management.

Clinical Study of HELLP Syndrome and It's Outcome at Pravara Rural Hospital, Loni

Background: HELLP syndrome, a severe pregnancy complication characterized by hemolysis, elevated liver enzymes, and low platelet count, occurs in 0.5 to 0.9% of all pregnancies and in 10–20% of severe preeclampsia cases. It poses significant risks to both mother and fetus, presenting diagnostic and therapeutic challenges. Patients often experience epigastric or right upper quadrant pain, hypertension, proteinuria, fatigue, nausea, vomiting, sudden weight gain, and headaches. HELLP syndrome typically occurs in the second and third trimesters (27-37 weeks) and 15–30% of cases present postpartum. The exact causes remain unclear but may involve placental origins, autoimmune factors, gene mutations, or fatty acid oxidation disorders. Aims and Objectives: To analyze the clinical profile of HELLP syndrome cases and to assess maternal and perinatal outcomes, including morbidity and mortality. Material and Methods: This prospective cross-sectional study was conducted in the Obstetrics and Gynecology department at Pravara Rural Hospital, Loni, involving 45 patients with severe preeclampsia and eclampsia above 28 weeks of gestation diagnosed with HELLP syndrome. Patients were admitted to the ICU, and detailed histories and examinations were recorded. Patients were divided into two groups: those with HELLP syndrome (Group A) and those without (Group B). Results: Group A had a higher representation in the 20-22 age bracket, while Group B had more members aged 22-24. Cesarean sections were more common in Group A, whereas vaginal deliveries were more frequent in Group B. Blood pressure readings were higher in Group A. Maternal complications, such as abruption placentae, DIC, hepatic infarction, acute renal failure, and ascites, were more frequent in Group A, as were neonatal complications like IUGR, preterm delivery, neonatal thrombocytopenia, and RDS. Conclusion: The study reveals significant differences between patients with and without HELLP syndrome. Group A included younger patients, more first-time mothers, and a higher incidence of complications and mortality. These findings highlight the need for tailored management strategies for severe preeclampsia/eclampsia, especially in those with HELLP syndrome, to improve maternal and neonatal outcomes.

Metabolic Consequences of Polycystic Ovary Syndrome on Hepatic Function in High Fat Diet-Fed Rats: Potential Role of Exercise

Abstract Context Polycystic ovarian syndrome (PCOS) is the most common endocrine-metabolic disorder in reproductive-aged women. Since, The current study was designed to elucidate the metabolic comorbidities of polycystic ovarian syndrome, especially the hepatic effect, with or without high fat diet feeding, and to emphases the crucial role of exercise in managing such complications. Materials and Methods This study was carried out on 55 adult female albino Wistar rats, the study duration was 8 weeks. Rats included in the present study were randomly allocated into five equal groups, eleven rats each: Group I: Control group, Group II: Polycystic ovary syndrome (PCO) group, Group III: High fat diet fed polycystic ovary syndrome (HF-PCO) group, Group IV: Exercise-treated polycystic ovary syndrome (PCO-EX) group, Group V: High fat diet fed exercise-treated polycystic ovary syndrome (HF-PCO-EX) group. PCOS was induced in female wistar rats by oral administration of Letrozole (1mg/kg daily by oral gavage for 21 days in groups II, III, IV, V, high fat diet was supplemented to groups III and V. Rats of groups IV and V were subjected to 30 minutes swimming protocol 5 days/ week for 5 weeks after the period of induction. Results All measured values of the OGTT as well as area under the curve, serum fasting glucose (FG), insulin levels and HOMA-IR were all significantly increased in the PCO, HF-PCO when compared to control group. Compared to their corresponding non exercised groups, both PCO-EX and HFPCO-EX groups showed significant reductions in all parameters except for T90 in PCO-EX group. For the lipid profile, the serum level of TG, TC, LDL-C and AI were all significantly increased while HDL-C was significantly decreased in PCO and HF-PCO compared to control group as well as in HF-PCO group compared to PCO group. PCO-EX and HF-PCO-EX groups showed significant reductions in TG, TC, LDL-C and AI and a significant elevation in HDL-C when compared to their corresponding non- exercised groups. For liver enzymes serum level of ALT, AST and GGT were significantly increased in PCO and HF-PCO groups when compared with control group. Compared to their corresponding non exercised groups, both PCO-EX and HF-PCO-EX showed significant reductions in liver enzymes. As regard the hormonal profile, the serum level of estradiol, adiponectin and adiponectin/resistin ratio (A/R) were significantly decreased while serum level of testosterone, LH and resistin were significantly increased in PCO and HF-PCO groups compared to control group. PCO-EX and HF-PCO-EX groups induced significant increases in serum estradiol, adiponectin and A/R as well as significant decreases in serum testosterone, LH and resistin compared to their corresponding non exercised groups. Conclusion We could conclude that both moderate intensity exercise and avoiding high fat diet have beneficial therapeutic potentials in ameliorating the metabolic effects of PCO syndrome in rats especially the hepatic effects and the development of NAFLD.