Publications by authors named "J Upadhyay"

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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Article Synopsis
  • 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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