Rare genetic disorders may present unique challenges in the treatment of anaesthesia due to their variable clinical presentations and potential for unexpected complications, necessitating a highly customised approach to perioperative management. The 9q13-q21 microdeletion syndrome is an exceptionally rare chromosomal disorder with limited literature documentation. This case report describes the successful perioperative anaesthetic management of a 12-month-old male child with heterozygous microdeletion in chromosome 9q13-q21.33 who presented for orchidopexy. The patient exhibited developmental delay, profound hypotonia, and distinctive craniofacial dysmorphic features including microcephaly, midfacial flattening, hypertelorism, and blepharophimosis, alongside undescended testis, severe congenital ptosis, and suspected congenital myasthenic syndrome. Significant cardiac and thyroid abnormalities were ruled out by a thorough preoperative evaluation, and underlying muscle dysfunction was ruled out by electromyography. The primary anaesthetic challenge involved management of a potentially difficult airway due to syndromic features and developmental status. Given the patient’s age, hypotonia, and the potential of problems from traditional anaesthesia, a carefully planned anaesthetic technique was adopted utilising ProSeal Laryngeal Mask Airway (LMA) and Total Intravenous Anaesthesia (TIVA) with propofol infusion was titrated to maintain spontaneous ventilation, accompanied by caudal block using 0.2% bupivacaine for analgesia. The 90-minute surgery was uneventful with steady haemodynamics and complete recovery of patient’s protective airway reflexes. This case highlights the necessity of rigorous preoperative screening, anticipation of many anaesthetic problems, and tailored perioperative management techniques in attaining optimal outcomes in children with uncommon genetic diseases.
Peripheral Artery Disease (PAD) remains significantly underdiagnosed even among high-risk populations particularly in primary care and underserved settings due to the dependency on Doppler-based Ankle-Brachial Index (ABI) measurements, which is time-consuming, need a trained personnel and specialized equipment. NerveVue is a novel, portable diagnostic system that integrates photoplethysmography (PPG) and piezoelectric sensors to capture arterial pressure wave form signals from all four limbs simultaneously. Designed for use by low-skill operators, NerveVue enables rapid, infrastructure-light PAD screening suitable for decentralized and outreach environments. A prospective, cross-sectional, multicenter clinical study was conducted involving 299 adults across standard middleage to older-age ranges. Ankle-Brachial Index (ABI) values derived from the NerveVue device (ABI_NV) were compared against the reference Handheld Doppler method (ABI_Ref). Diagnostic performance metrics including sensitivity, specificity, and predictive values were computed. Subgroup analyses were performed for participants with diabetes, hypertension, and smoking history. Agreement between ABI_NV and ABI_Ref was assessed using Pearson correlation coefficients and PAD classification concordance. NerveVue demonstrated an overall accuracy of 91.6%, with a sensitivity of 84.6% and specificity of 94.7% compared to Handheld Doppler-based ABI measurements. The correlation between ABI_NV and ABI_Ref was strong, with Pearson’s r = 0.991 (right limb) and r = 0.992 (left limb), both statistically significant (p < 0.00001). Subgroup analysis showed consistent performance, with enhanced sensitivity among diabetic participants (90%) and perfect sensitivity among smokers (100%). The system enabled rapid PAD assessment within five minutes using low-skill operators, making it suitable for decentralized screening environments. NerveVue provides a reliable and accurate alternative to Dopplerbased ABI for the detection of Peripheral Artery Disease (PAD), demonstrating high diagnostic agreement and robust performance across diverse risk groups. Its simultaneous multi-site measurement and ease of use by low-skill operators, position it well for large-scale deployment in community screenings, primary care, diabetic clinics, and preventive health programs. NerveVue has the potential to bridge current diagnostic gaps and enable earlier intervention in vascular disease management.
Abstract Introduction: Perimenopause, a transitional phase in midlife, affects the quality of life (QoL) due to aging, family responsibilities, mid-life crises, and socio-cultural factors, especially in working women balancing workplace and household demands. Engaging in physical activity (PA) has been found to reduce the symptoms and improve QoL. Aim: This study aimed to assess the level of physical evaluation QoL and examine their correlation among perimenopausal women. Materials and Methods: This study included 126 working women 45–55 years old in the perimenopausal stage, screened using the Stages of Reproductive Aging Workshop-10 criteria. Outcome measures were International PA Questionnaire (IPAQ) – Short Form for PA and Utian QoL Questionnaire (UQOL) for QoL. Results: Participants demonstrated the high levels of vigorous PA (median IPAQ score: 2079) alongside a high QoL (median UQOL score: 77). There was a positive correlation between PA and QoL (Spearman’s rho = 0.227). However, the results obtained were not statistically significant ( P = 0.11). Conclusion: Perimenopausal women in this study were highly active and reported a good QoL. Additional studies are needed to investigate the contributing factors and their possible interconnections.
Background: The rising prevalence of type 2 diabetes mellitus (T2DM) in India, driven by obesity and lifestyle factors, necessitates innovative treatments like oral Semaglutide, a GLP-1 receptor agonist (GLP-1RA). Its oral formulation enhances patient adherence by overcoming barriers associated with injectables, offering glycaemic control, weight loss, and cardiorenal benefits. Methods: A comprehensive literature review was conducted using PubMed, EMBASE, and Cochrane Library, focusing on oral Semaglutide and GLP-1 RAs. An expert panel convened on November 24, 2023, in Bengaluru, India, to develop guidelines for its use in T2DM management. Live opinion polls and panel discussions provided clinical insights across diverse patient populations. Results: Oral semaglutide demonstrated significant HbA1c reductions of −1.3% to −1.5% at 7 mg and 14 mg doses, and weight loss of up to 5 kg across diverse T2DM profiles, including drug-naïve individuals with normal BMI, obesity, ASCVD, and CKD. In CKD patients, it reduced nephropathy risk by HR 0.64 (95% CI: 0.46–0.88). Cardiovascular safety was supported by a 21% reduction in MACE in PIONEER 6. Additional benefits included improved blood pressure, lipid profiles, and a low risk of hypoglycemia, with consistent efficacy across special populations. Conclusion: Oral semaglutide offers a comprehensive, patient-centric approach to managing type 2 diabetes, with benefits extending beyond glycemic control to address cardiovascular, renal, and metabolic health. Its oral formulation enhances adherence, making it suitable for diverse patient populations. This expert consensus provides practical guidance for its effective use in routine clinical care.
