Publications by authors named "Upadhyay J"

Background: Fibrous dysplasia/McCune-Albright syndrome (FD/MAS) is a genetic disorder, marked by bone lesions, often affecting the craniofacial skeleton. Pain is a prevalent yet heterogeneous symptom reported by patients with craniofacial FD. Effective treatments are currently lacking, posing a significant clinical challenge to patient care.

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Introduction: Promotion of child health during the first thousand days from conception to the child's second birthday is vital for survival, growth and development. Growth monitoring and promotion services are key to the early detection of growth faltering and preventing malnutrition and promoting child health. This study aimed to assess the utilization of Growth Monitoring and Promotion (GMP) services and its associated factors among young children in Gorkha district of Nepal.

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Background: Niemann-Pick Disease Type C (NPC) is an ultra-rare disorder characterized by progressive psychiatric and neurologic manifestations, with late infantile, juvenile, and adolescent/adult presentations. We examined morphological properties of the choroid plexus, a protective blood-cerebrospinal fluid barrier, in NPC, and their relationship with neurodegeneration, clinical status, and circulatory markers. This study also determined whether choroid plexus morphology differentiates between NPC and more prevalent illnesses, schizophrenia (SZ) and bipolar disorder (BD), which have overlapping psychiatric symptoms with adolescent and adult-onset NPC and are associated with misdiagnosis.

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Background: Glucagon like peptide-1 receptor agonists (GLP-1RA) promote weight loss and improve heart failure-related symptoms, quality of life, and functional capacity in patients with obesity and heart failure with preserved ejection fraction (HFpEF). However, their clinical effectiveness in non-obese patients with diabetes and HFpEF is understudied.

Methods: The TriNetX research network was used to identify adult patients (≥18 years) with type 2 diabetes mellitus (T2DM), Heart failure with preserved ejection fraction ((Left ventricular ejection fraction ≥45%), elevated brain natriuretic peptide (≥150pg/mL) or N-terminal pro-B-type natriuretic peptide(≥450pg/mL) and a body mass index (BMI) <30 kg/m2 on or before August 31, 2022.

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  • The first Clinical and Scientific Conference on ADSS1 myopathy took place on June 3, 2024, at NIH in Maryland, focusing on this rare inherited neuromuscular disease.
  • The conference highlighted geographical patient clusters from South Korea, Japan, India, and the USA, along with research on pre-clinical models to better understand the disease.
  • Experts identified biochemical pathways for potential therapies and created an ADSS1 myopathy consortium to guide new treatment development.
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Purpose: Studies have reported associations between prostate cancer, type II diabetes mellitus (T2DM), and cardiovascular disease in the context of treatment with hormone therapy (HT). This study aimed to assess the role of Sodium-Glucose Cotransporter-2 Inhibitors (SGLT2i) in preventing adverse cardiovascular and renal outcomes in diabetics with prostate cancer.

Methods: Patients ≥ 18 years of age with T2DM and prostate cancer who received HT between August 1, 2013, and August 31, 2021, were identified using the TriNetX research network.

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Since its discovery and over the past thirty years, extensive research has significantly expanded our understanding of leptin and its diverse roles in human physiology, pathophysiology and therapeutics. A prototypical adipokine initially identified for its critical function in appetite regulation and energy homeostasis, leptin has been revealed to also exert profound effects on the hypothalamic-pituitary-gonadal, thyroid, adrenal and growth hormone axis, differentially between animals and humans, as well as in regulating immune function. Beyond these roles, leptin plays a pivotal role in significantly affecting bone health by promoting bone formation and regulating bone metabolism both directly and indirectly through its neuroendocrine actions.

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  • A survey investigated the knowledge, attitudes, and practices of physicians regarding pain management in neonates, revealing that 87% understood neonatal pain perception but only 57.3% had a formal pain management policy.
  • While 66% were aware of pain assessment tools, none utilized them, and only 44.3% were satisfied with their pain management despite using analgesics like midazolam and fentanyl.
  • There is a notable hesitance towards opioid use, with 55% believing they should not be used in neonates, yet 86% administered fentanyl, indicating a need for improved pain management strategies in neonatal intensive care.
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Background: Early onset psychosis (EOP) frequently presents with a severe clinical phenotype and poor long-term prognosis. Clinical experience suggests that individuals with EOP have abnormal pain and somatosensory processing, yet relative to adult-onset psychosis, pain and somatic sensory processing in EOP have rarely been studied.

Methods: The history of two characteristic patients is described to illustrate clinical presentations of pain in EOP patients.

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  • Fibrous dysplasia/McCune-Albright Syndrome (FD/MAS) often affects the craniofacial skeleton, requiring diverse imaging techniques (like X-rays, CT, MRI, and F-NaF PET) to assess the lesions.
  • A study involving 15 patients with 35 lesions used a k-means clustering algorithm to classify these based on their imaging features.
  • The findings indicate three distinct types of lesions, providing a basis for future research into their progression, treatment options, and associated symptoms, ultimately improving patient management.
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Background: Studies have reported associations between prostate cancer, type II diabetes mellitus (T2DM) and cardiovascular disease in the context of treatment with hormone therapy (HT). This study aimed to assess the role of Sodium-Glucose Cotransporter-2 Inhibitors (SGLT2i) in preventing adverse cardiovascular and renal outcomes in diabetics with prostate cancer.

Methods: Patients ≥ 18 years of age with T2DM and prostate cancer who received HT between August 1, 2013, and August 31, 2021, were identified using the TriNetX research network.

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Background: NCDs prevalence and associated risk factors impacts on the burden of disease and premature mortality. Effective NCD service delivery requires well equipped facilities with trained providers and resources. Evaluating readiness and its determinant is crucial for enhancing NCD management.

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  • * Traditional delivery methods for gene therapy face challenges due to the blood-brain barrier, but focused ultrasound (FUS) offers a non-invasive alternative to enhance gene delivery.
  • * In studies with AAV9 vectors in both wild-type and HD mouse models, FUS successfully improved delivery efficacy, although there were concerns regarding decreased gene expression in older HD mice without increasing astrocytosis.
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Context: Breast cancer stem cells (BCSCs) are a small subset of cells within breast tumors with characteristics similar to normal stem cells. Despite advancements in chemotherapy and targeted therapy for breast cancer, the prognosis for breast cancer patients has remained poor due to drug resistance, reoccurrence, and metastasis. Growing evidence suggests that deregulation of the self-renewal pathways, like the Wnt signaling pathway mediated by β-catenin, plays a crucial role in the survival of breast cancer stem cells.

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Background: Digital health, data science and health informatics are increasingly important in health and healthcare, but largely ignored in undergraduate medical training.

Methods: In a large UK medical school, with staff and students, we co-designed a new, 'spiral' module (with iterative revisiting of content), covering data science, digital health and evidence-based medicine, implementing in September 2019 in all year groups with continuous evaluation and improvement until 2022.

Results: In 2018/19, a new module, 'Doctor as Data Scientist', was co-designed by academic staff (n = 14), students (n = 23), and doctors (n = 7).

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Anemia is a severe health issue that affects around one-third of the global population. Therefore, the present study aims to conduct a bibliometric analysis to investigate the research trends regarding advancements on iron formulations in treating iron deficiency anemia via oral or parenteral route. This study adopts thematic and bibliometric methods on existing research on novel iron formulations.

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The relationship between pain and alcohol use disorder (AUD) is complex and bidirectional. The current study examines risk factors for pain in a large comprehensively phenotyped sample including individuals from across the spectrum of alcohol use and misuse. Participants (n = 1101) were drawn from the National Institute on Alcohol Abuse and Alcoholism Natural History Protocol and included treatment-seeking AUD inpatients (AUD+Tx, n = 369), individuals with AUD not seeking treatment (AUD+, n = 161), and individuals without AUD (AUD-, n = 571).

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Background: COVID-19 infection has an impact on the mental state of patients and requires attention to mental health care.

Objective: The aim of this study is to assess the effect of Yoga-based breathing practices on the mental state of patients with COVID-19.

Material And Methods: A randomized controlled trial was conducted with63 patients (male=46) who were RT-PCR positive for COVID-19 and hospitalized with asymptomatic (RT-PCR positive but no symptoms), mild (febrile, body ache, pharyngitis, nonproductive cough), and moderate (SpO2< 92%) symptoms assigned in the yoga (n=32) and control group (n=31).

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Graphene-based nanomaterials, renowned for their outstanding electrical conductivity, have been extensively studied as electroconductive biomaterials (ECBs) for electrically stimulated tissue regeneration. However, using eco-friendly reducing agents like l-ascorbic acid (l-Aa) can result in lower conductive properties in these ECBs, limiting their full potential for smooth charge transfer in living tissues. Moreover, creating a flexible biomaterial scaffold using these materials that accurately mimics a specific tissue microarchitecture, such as nerves, poses additional challenges.

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Background: The application of splints is one of the most used methods to prolong the life span of peripheral intravenous cannulation (PIVC).

Objective: To assess the effect of splint application on the functional duration of PIVC in neonates.

Methods: This systematic review and meta-analysis identified, appraised, and synthesized available evidence from randomized and quasi-randomized controlled trials (RCT) related to the effects of splint application compared to no splinting on the functional duration of PIVC and its associated complications in term and preterm neonates.

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Article Synopsis
  • Niemann-Pick disease type C (NPC) is a rare genetic disorder causing neurodegeneration and impairments in speech and cognitive functions.
  • The study assessed 8 adults with NPC and healthy controls, using various tests including brain imaging, to identify issues in motor skills, speech production, and cognitive abilities.
  • Findings showed significant brain volume and structural changes in NPC patients, linking these to their motor and cognitive deficits, and suggesting potential biomarkers for understanding the disease better.*
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The current study aims to characterize brain morphology of pain as reported by small fiber neuropathy (SFN) patients with or without a gain-of-function variant involving the SCN9A gene and compare these with findings in healthy controls without pain. The Neuropathic Pain Scale was used in patients with idiopathic SFN (N = 20) and SCN9A-associated SFN (N = 12) to capture pain phenotype. T1-weighted, structural magnetic resonance imaging (MRI) data were collected in patients and healthy controls (N = 21) to 1) compare cortical thickness and subcortical volumes and 2) quantify the association between severity, quality, and duration of pain with morphological properties.

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Sleep Apnea (SA) can cause health complications including heart stroke and neurological disorders. The Polysomnography (PSG) test can detect the severity of sleep disturbance. However, it is expensive and requires a dedicated sleep laboratory and expertise to examine the patients.

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Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that is increasingly affecting pediatric and adult populations. Neuropsychiatric manifestations (ie, cognitive dysfunction and mood disorders) appear to occur with greater severity and poorer prognosis in childhood-onset SLE (cSLE) versus adult-onset SLE, negatively impacting school function, self-management, and psychosocial health, as well as lifelong health-related quality of life. In this review, we describe pathogenic mechanisms active in cSLE, such as maladaptive inflammatory processes and ischemia, which are hypothesized to underpin central phenotypes in patients with cSLE, and the role of alterations in protective central nervous system (CNS) barriers (ie, the blood-brain barrier) are also discussed.

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  • Pompe disease is a rare genetic disorder caused by a deficiency in acid alpha-glucosidase, leading to muscle weakness and other symptoms, often neglecting pain and psychological aspects.
  • A case study discusses a child with late-onset Pompe disease who experiences chronic pain, diagnosed at 9 years old after various initial misattributions.
  • Treatment includes enzyme replacement therapy and a multidisciplinary approach focusing on physical and psychosocial therapies to manage pain and improve the child's overall well-being.
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