Publications by authors named "Mannam P"

Background: Rare variants in melanocortin 4 receptor gene (MC4R) result in a severe form of early-onset obesity; however, it is unclear how these variants may affect abdominal fat distribution, intrahepatic fat accumulation, and related metabolic sequelae.

Methods: Eight hundred seventy-seven youth (6-21 years) with overweight/obesity, recruited from the Yale Pediatric Obesity Clinic in New Haven, CT, underwent genetic analysis to screen for functionally damaging, rare variants (MAF < 0.01) in MC4R.

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Objective: The pediatric neurosurgical community has increasingly recognized the importance of healthcare transition, the process of moving a patient from a pediatric to an adult model of care. However, surveys of pediatric neurosurgeons have revealed that few institutions have formal transition programs. Here, the authors share their preliminary experience with the development of a formal transition pilot program for patients with spina bifida and/or hydrocephalus.

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Measures of physical growth, such as weight and height have long been the predominant outcomes for monitoring child health and evaluating interventional outcomes in public health studies, including those that may impact neurodevelopment. While physical growth generally reflects overall health and nutritional status, it lacks sensitivity and specificity to brain growth and developing cognitive skills and abilities. Psychometric tools, e.

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A congenital disseminated malignant rhabdoid tumor (MRT) is an exceedingly rare and aggressive pediatric cancer marked by the presence of malignant rhabdoid cells in various organs, including the brain, kidneys, and soft tissues, at birth. It is often detected prenatally or shortly post-birth. The malignancy's aggressiveness results in a bleak prognosis, offering limited treatment options and low survival rates.

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Purpose: Basal duct-like recess (DR) sign serves as a specific marker of papillary craniopharyngiomas (PCPs) of the strictly third-ventricular (3 V) topography. Origins of this sign are poorly understood with limited validation in external cohorts.

Methods: In this retrospective study, MRIs of pathologically proven PCPs were reviewed and evaluated for tumor topography, DR sign prevalence, and morphological subtypes.

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Article Synopsis
  • Stable visual perception during movement relies on the interaction of various brain regions, as demonstrated in a patient with damage to the right occipital and temporal lobes.
  • This patient experienced "self-motion induced environmental kinetopsia," where roadside buildings appeared to move towards him while riding his motorbike, along with another illusion where objects seemed to pop out from the background.
  • Through lesion mapping, researchers found disrupted connectivity in areas responsible for processing visual flow, suggesting a link between these brain regions and the patient's altered visual experiences.
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WNT morphogens trigger signaling pathways fundamental for embryogenesis, regeneration, and cancer. WNTs are modified with palmitoleate, which is critical for binding Frizzled (FZD) receptors and activating signaling. However, it is unknown how WNTs are released and spread from cells, given their strong lipid-dependent membrane attachment.

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Background: Few treatment options exist for patients with severe central nervous system (CNS) tuberculosis (TB) worsening due to inflammatory lesions, despite optimal antitubercular therapy (ATT) and steroids. Data regarding the efficacy and safety of infliximab in these patients are sparse.

Methods: We performed a matched retrospective cohort study based on Medical Research Council (MRC) grading system and modified Rankin Scale (mRS) scores comparing 2 groups of adults with CNS TB.

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Objectives: The primary source of facial mucormycosis is through inhalation of fungal sporangiospores, resulting in invasive disease in paranasal sinuses. However, dental onset mucormycosis has not been well documented in literature. The aim of this study was to describe the clinical characteristics and outcomes of patients with odontogenic onset mucormycosis.

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Article Synopsis
  • A 53-year-old male with a history of untreated primary syphilis experienced flaccid quadriparesis, sensory loss, and bladder dysfunction, leading to a diagnosis of tract-specific myelopathy associated with neurosyphilis.
  • MRI findings showed unique symmetric hyperintensities in the cervical spinal cord that are distinct from typical presentations of syphilitic meningomyelitis.
  • The patient improved significantly after penicillin treatment, highlighting the importance of early diagnosis and intervention in unique cases of myelopathy related to neurosyphilis.
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Context: Multiple myeloma and extensive lytic skeletal metastases may appear similar on positron-emission tomography and computed tomography (PET-CT) in the absence of an obvious primary site or occult malignancy. Radiomic analysis extracts a large number of quantitative features from medical images with the potential to uncover disease characteristics below the human visual threshold.

Aim: This study aimed to evaluate the diagnostic capability of PET and CT radiomic features to differentiate skeletal metastases from multiple myeloma.

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Background: Most centers in developing countries prefer chelation therapy with D-penicillamine for the management of Wilson's disease (WD) because of its easy availability and affordability. Neurological worsening following treatment with D-penicillamine is not uncommon. However, there is a paucity of Indian data on the incidence of neurological worsening in children and adolescents with WD following chelation therapy.

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Introduction: Current diagnostic methods used in Central Nervous System Tuberculosis (CNS TB) are limited by the paucibacillary nature of this form of tuberculosis. Posterior pituitary bright spot (PPBS) refers to an area of T1 hyperintensity in the posterior pituitary in MR imaging of the brain. It is found in 80-90% of healthy children and adults.

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Objective: Intestinal barrier loss is a Crohn's disease (CD) risk factor. This may be related to increased expression and enzymatic activation of myosin light chain kinase 1 (MLCK1), which increases intestinal paracellular permeability and correlates with CD severity. Moreover, preclinical studies have shown that MLCK1 recruitment to cell junctions is required for tumour necrosis factor (TNF)-induced barrier loss as well as experimental inflammatory bowel disease progression.

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Objective: To compare the findings of ultrasonography of the upper airway with flexible fiberoptic laryngoscopy and determine the efficacy of transcutaneous laryngeal ultrasonography for decannulation.

Design: Prospective cross-sectional study.

Setting: Tertiary care referral center in South India.

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Three-dimensional organoid cultures enable the study of stem cell and tissue biology ex vivo, providing improved access to cells for perturbation and live imaging. Typically, organoids are grown in hydrogel domes that are simple to prepare but that lead to non-uniform tissue growth and viability. We recently developed a simple alternative culture method to embed intestinal organoids in multilayered hydrogels, called "triple-decker sandwiches," that align organoids in a common z-plane with uniform access to medium.

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Enteroendocrine (EE) cells are the most abundant hormone-producing cells in humans and are critical regulators of energy homeostasis and gastrointestinal function. Challenges in converting human intestinal stem cells (ISCs) into functional EE cells, ex vivo, have limited progress in elucidating their role in disease pathogenesis and in harnessing their therapeutic potential. To address this, we employed small molecule targeting of the endocannabinoid receptor signaling pathway, JNK, and FOXO1, known to mediate endodermal development and/or hormone production, together with directed differentiation of human ISCs from the duodenum and rectum.

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Background And Purpose: Neuroimaging has an important role in detecting CNS involvement in children with systemic or CNS isolated hemophagocytic lymphohistiocytosis. We characterized a cohort of pediatric patients with CNS hemophagocytic lymphohistiocytosis focusing on neuroradiologic features and assessed whether distinct MR imaging patterns and genotype correlations can be recognized.

Materials And Methods: We retrospectively enrolled consecutive pediatric patients diagnosed with hemophagocytic lymphohistiocytosis with CNS involvement treated at 2 pediatric neurology centers between 2010 and 2018.

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Background: Tuberculous meningitis (TBM) is a global health problem with important complications such as acute infarcts secondary to vasculitis contributing to adverse outcomes. The objective of this study is to assess intracranial vasculitis in patients with TBM, either during their initial diagnosis or during follow-up while on standard antituberculous therapy.

Methods: Ten patients with TBM underwent magnetic resonance (MR) based vessel wall imaging (VWI) to identify intracranial vasculitis (five patients during their initial presentation and the other five patients during their follow-up visit).

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Objectives: Diffuse infiltrative "non-mass-like" parenchymal lesions on MRI brain are a known presentation of an aggressive condition called lymphomatosis cerebri (LC) but are often misdiagnosed due to its non-specific clinical and imaging findings. We aim to identify clues to differentiate lymphomatosis from its less aggressive mimics based on imaging features.

Material And Methods: MRI brain studies showing diffuse infiltrative "non-mass-like" parenchymal lesions between January 2013 and March 2020 were retrospectively identified and read for lesion location, signal characteristics, and enhancement pattern by two radiologists.

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 Infection with , a gram-negative bacterium found in soil and surface water, is termed melioidosis and is commonly reported to occur in Southeast Asia and Northern Australia, where it is endemic. It is being increasingly reported in India, and transmission occurs through inhalation, inoculation, and ingestion. The neuroparenchyma, the adjacent soft tissue, and bone are known to be affected in both the acute and chronic disease forms.

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This report describes two patients with acute-onset ptosis, oculomotor dysfunction, ataxia and drowsiness, referable to the midbrain tegmentum. Both patients had previously suffered severe closed head injuries requiring craniotomy for cerebral decompression. Serial brain scans in both cases revealed a newly developing cleft in the midbrain, with features suggestive of abnormal cerebrospinal fluid (CSF) flow across the aqueduct.

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Recombinant tissue plasminogen activator (rtPA) may be considered in acute ischemic strokes (AIS) occurring in pregnancy. This recommendation is based on case reports which had demonstrated the efficiency and safety of rtPA in early pregnancy. However, most of the pregnancy-related strokes occur in the peripartum period.

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