Publications by authors named "Karan Desai"

Article Synopsis
  • Hereditary Neuralgic Amyotrophy (HNA) is an autosomal dominant disorder linked to mutations in the SEPTIN9 gene, causing episodes of severe pain and muscle atrophy, particularly affecting the brachial plexus.
  • * In a study of a large family with HNA, genetic analysis showed a mutation (NM_001113491.2:p.Arg106Trp) in the SEPTIN9 gene present in six affected members, leading to significant changes in the protein's structure and function.
  • * Despite sharing the same genetic mutation, affected family members exhibited a wide range of symptoms, suggesting that factors such as variable penetrance and epigenetic influences may contribute to this variability.
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Article Synopsis
  • - The differential diagnosis for cardiac masses includes various benign and malignant tumors, but metastases from other cancers are significant causes.
  • - This text discusses a unique case involving a fast-growing mass in the right atrium of the heart.
  • - The mass is identified as metastatic hepatocellular carcinoma, a type of liver cancer that has spread to the heart.
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Background: This study investigates whether open distal radius fractures (ODRFs) treated after 24 hours from time of injury have an increased risk of infection or overall complication profile compared with those treated within 24 hours.

Methods: Retrospective review was performed of all patients treated for ODRF over a 6-year period at a single large academic institution. Postoperative complications included surgical site infections, need for revision irrigation and debridement, delayed soft tissue healing, loss of reduction, nonunion, and malunion.

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Background: Maternal stress (MS) is a well-documented risk factor for impaired emotional development in offspring. Rodent models implicate the dentate gyrus (DG) of the hippocampus in the effects of MS on offspring depressive-like behaviors, but mechanisms in humans remain unclear. Here, we tested whether MS was associated with depressive symptoms and DG micro- and macrostructural alterations in offspring across 2 independent cohorts.

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Background: Tendon injuries of the upper extremity remain a common surgical condition requiring prompt intervention. The authors review their initial experience with the PONTiS flexor tendon repair system, a knotless, multifilament, stainless steel crimp system.

Methods: Consecutive patients undergoing repair by plastic and orthopedic surgeons with the PONTiS system were reviewed for the period from 2015 to 2017.

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Diffusion MRI (dMRI) is widely used to investigate neuronal and structural development of brain. dMRI data is often contaminated with various types of artifacts. Hence, artifact type identification in dMRI volumes is an essential pre-processing step prior to carrying out any further analysis.

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Cardiovascular risk has traditionally been defined by modifiable and non-modifiable risk factors, such as tobacco use, hyperlipidemia, and family history. However, chemicals and pollutants may also play a role in cardiovascular disease (CVD) risk. Arsenic is a naturally occurring element that is widely distributed in the Earth's crust.

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Background: SARS-CoV-2 is a rapidly spreading coronavirus responsible for the Covid-19 pandemic, which is characterized by severe respiratory infection. Many factors have been identified as risk factors for SARS-CoV-2, with much early attention being paid to body mass index (BMI), which is a well-known cardiometabolic risk factor.

Objective: This study seeks to examine the impact of additional baseline cardiometabolic risk factors including high density lipoprotein-cholesterol (HDL-C), low density lipoprotein-cholesterol (LDL-C), Apolipoprotein A-I (ApoA-I), Apolipoprotein B (ApoB), triglycerides, hemoglobin A1c (HbA1c) and diabetes on the odds of testing positive for SARS-CoV-2 in UK Biobank (UKB) study participants.

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A diagnosis of idiopathic intracranial hypertension should be considered only after careful exclusion of all possible aetiologies. We report a case of neoplastic meningitis presenting as intracranial hypertension with inconclusive repeated cerebrospinal fluid (CSF) cytology and MRI of brain, emphasising the importance of meticulous CSF analysis and role of early whole-body PET-CT scan for diagnosis of systemic malignancy.

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Cerebrotendinous Xanthomatosis (CTX) is a rare autosomal-recessive inborn disorder of bile acid metabolism due to mutations in the gene. It presents with a diverse range of neurological and non-neurological symptoms. We present a case of CTX with a progressive myoclonic epilepsy (PME) like phenotype and a family history of CTX.

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Background: SARS-CoV-2 is a rapidly spreading coronavirus with a high incidence of severe upper respiratory infection that first presented in Wuhan, China in December 2019. Many factors have been identified as risk factors for SARS-CoV-2, with much attention being paid to body mass index (BMI). Little investigation has been done to investigate dysregulation of lipid profiles and diabetes, which are often comorbid in high BMI patients.

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Isolated hemichorea (HC) in adults has a relatively restricted differential diagnosis including stroke of contralateral basal ganglia nuclei, nonketotic hyperglycemia, and basal ganglia toxoplasmosis in HIV infection. Hypoparathyroidism-related basal ganglia calcification can potentially cause neurological problems, including movement disorders, that are usually bilateral in keeping with bilateral symmetric lesions. We report a patient with video-documented isolated, adult-onset HC due to iatrogenic hypoparathyroidism and bilateral basal ganglia calcification.

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Glut-1 transporter deficiency syndrome (GLUT1-DS) is a rare disorder caused by the mutation in SLC2A1 gene, which results in impaired glucose transport into the brain. It has a broad spectrum of phenotypic presentation ranging from cognitive decline, microcephaly, and refractory seizures to complex movement disorder. Recognition of this disorder is necessary as it is refractory to antiepileptic drugs (AEDs) and responds significantly to ketogenic diet.

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The goal in abdominal wall reconstruction (AWR) is to minimize morbidity and prevent hernia recurrence. Components separation and mesh reconstruction are two options, however, with advantages and disadvantages. The purpose of this review was to investigate outcomes in patients with abdominal wall hernia undergoing primary closure with component separation (CS) versus CS with acellular dermal matrix (ADM) reinforcement (CS + mesh).

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Coronary artery disease is the leading cause of mortality in the United States and can result in significant morbidity. In particular, stable ischemic heart disease (SIHD) is a condition that affects nearly 9 million individuals in the United States alone, with substantial annual health care costs related to recurrent medical visits and chronic disease management. Nitrates form a cornerstone of SIHD management by reducing myocardial oxygen consumption and increasing exercise capacity by several mechanisms, including increasing epicardial blood flow through vasodilation and decreased vascular resistance, blunting coronary steal, and reducing preload.

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Background: The incidence of methicillin-resistant Staphylococcus aureus (MRSA) carriers and infections continues to rise. Some specialties have demonstrated a reduction in infection through appropriate screening and treatment.

Objectives: We sought to investigate the incidence of preoperative colonization, postoperative conversion, and whether this had any impact on outcomes in patients undergoing post-mastectomy breast reconstruction (BR).

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