Publications by authors named "Joseph Napoli"

Introduction: This study compares the long-term aesthetic outcomes of patients with unicoronal synostosis (UCS) who underwent fronto-orbital distraction osteogenesis (FODO) versus traditional fronto-orbital advancement and remodeling (FOAR).

Methods: Patients treated for nonsyndromic UCS from 2009 to 2023 were retrospectively reviewed. Perioperative and complication characteristics were compared between all patients who underwent FOAR, open FODO, and endoscopic-assisted FODO ("endo-FODO").

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  • The study investigates the spheno-occipital synchondrosis (SOS) fusion in patients with Muenke syndrome, a genetic condition associated with less severe facial deformities compared to other syndromes like Apert and Crouzon.
  • Researchers evaluated CT scans from 28 Muenke syndrome patients and compared them to matched controls, focusing on SOS fusion status and facial measurements.
  • The findings suggest that while Muenke syndrome patients exhibit minor retropositioning of the infraorbital rim, their SOS fusion patterns are similar to those of controls, indicating that any fusion timing differences might show up more at the infraorbital rim rather than the maxilla.
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  • - This study examines the relationship between the psychosocial status of patients with cleft lip and/or palate (CL/P) and their self-reported outcomes, using data from a pediatric hospital.
  • - Among 158 patients aged 8 to 29, nearly half (47%) showed significant psychosocial issues, including anxiety and ADHD, which were correlated with poorer patient-reported outcomes on aspects like speech and appearance.
  • - Findings suggest that younger patients and those with siblings who also have CL/P tend to report better outcomes, highlighting the influence of psychosocial factors on perceptions of their condition.
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Despite numerous female contraceptive options, nearly half of all pregnancies are unintended. Family planning choices for men are currently limited to unreliable condoms and invasive vasectomies with questionable reversibility. Here, we report the development of an oral contraceptive approach based on transcriptional disruption of cyclical gene expression patterns during spermatogenesis.

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9-cis-retinoic acid (9cRA) binds retinoic acid receptors (RAR) and retinoid X receptors (RXR) with nanomolar affinities, in contrast to all-trans-retinoic acid (atRA), which binds only RAR with nanomolar affinities. RXR heterodimerize with type II nuclear receptors, including RAR, to regulate a vast gene array. Despite much effort, 9cRA has not been identified as an endogenous retinoid, other than in pancreas.

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  • The study aimed to compare patient-reported outcomes (PROs) between internationally adopted patients with cleft lip and palate and their non-adopted peers, focusing on satisfaction with facial appearance and speech functionality.
  • Sixty-four internationally adopted and 113 non-adopted patients were analyzed, revealing that adopted individuals reported significantly lower satisfaction in areas like facial appearance and speech, though no differences were found in most psychosocial metrics.
  • Findings suggest that while adopted patients express lower satisfaction in specific areas related to appearance and speech, their overall psychosocial functioning is similar to that of non-adopted peers, indicating that adoption status may impact certain PROs but not psychosocial well-being.
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Background: Patients with micrognathia undergoing mandibular distraction osteogenesis (MDO) for functional and aesthetic improvement are at significant risk for dental complications. The authors investigated the association of 2 osteotomy patterns-oblique and inverted-L-with risk to developing dentition.

Methods: A senior orthodontist (H.

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  • * A study involved 356 participants, using advanced DNA sequencing techniques on cells from lymphatic fluid, which revealed genetic variations in a significant percentage of participants with primary complex lymphatic anomalies (pCLAs) and other vascular malformations.
  • * This research resulted in a molecular diagnosis for many participants, enabling new medical therapies for 63% of those affected, highlighting the potential of liquid biopsy techniques in diagnosing and treating vascular anomalies.
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Background: The purpose of this study was to analyze perceptual, acoustic, and aerodynamic changes in speech and velopharyngeal function after bilateral buccal flap revision palatoplasty (BBFRP) in patients with repaired cleft palate.

Methods: Ten consecutive patients ages 4 to 18 years with velopharyngeal dysfunction treated with BBFRP by a single surgeon were evaluated. Using a visual analog scale, nine blinded speech-language pathologists independently rated hypernasality, hyponasality, audible nasal emission, and speech acceptability.

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Considerable evidence confirms the importance of Cyp26a1 to all-trans-retinoic acid (RA) homeostasis during embryogenesis. In contrast, despite its presence in postnatal liver as a potential major RA catabolizing enzyme and its acute sensitivity to induction by RA, some data suggested that Cyp26a1 contributes only marginally to endogenous RA homeostasis postnatally. We report reevaluation of a conditional Cyp26a1 knockdown in the postnatal mouse.

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All-trans-retinoic acid (RA), a metabolite of vitamin A (retinol), exerts profuse actions that enable multiple aspects of reproduction, embryonic development and post-natal regulation of energy metabolism, glucoregulatory control, organ function, and of the skeletal, immune, nervous and cardiovascular systems, as well as cell proliferation vs [...

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Giant cell tumors are uncommonly found within the craniofacial skeleton, and of those within the head and neck, are exceedingly rare in the maxilla. Here the authors present 2 cases of large, maxillary giant cell tumors: one presenting with mass-effect symptoms and another presenting from incidental findings on routine orthodontic care. Both patients were treated surgically with transoral and endoscopic transnasal excision and demonstrated favorable surgical results.

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Objectives: Craniosynostosis may be a rare but severe complication of Fanconi-Bickel syndrome (FBS). Both conditions can be associated with feeding intolerance in young children. Prompt recognition and correction of increased intracranial pressure may lead to improved dietary tolerance in FBS patients and decrease morbidity.

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Retinoic acid (RA) counters insulin's metabolic actions. Insulin reduces liver RA biosynthesis by exporting FoxO1 from nuclei. RA induces its catabolism, catalyzed by CYP26A1.

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This review addresses the fasting vs. re-feeding effects of retinoic acid (RA) biosynthesis and functions, and sexually dimorphic RA actions. It also discusses other understudied topics essential for understanding RA activities-especially interactions with energy-balance-regulating hormones, including insulin and glucagon, and sex hormones.

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The retinol dehydrogenase Rdh10 catalyzes the rate-limiting reaction that converts retinol into retinoic acid (RA), an autacoid that regulates energy balance and reduces adiposity. Skeletal muscle contributes to preventing adiposity, by consuming nearly half the energy of a typical human. We report sexually dimorphic differences in energy metabolism and muscle function in Rdh10+/- mice.

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Noonan syndrome is a genetic disorder caused by mutations in the RAS/MAPK pathway. Multiple giant cell lesions are a rare sequelae of disruptions in this pathway, termed Noonan-like multiple giant cell lesions (NL/MGCLs). Medical management of these tumors rather than surgical intervention is preferential as the lesions are benign but locally destructive and recurring.

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Retinoids regulate a wide spectrum of cellular functions from the embryo throughout adulthood, including cell differentiation, metabolic regulation, and inflammation. These traits make retinoids very attractive molecules for medical purposes. In light of some of the physicochemical limitations of retinoids, the development of drug delivery systems offers several advantages for clinical translation of retinoid-based therapies, including improved solubilization, prolonged circulation, reduced toxicity, sustained release, and improved efficacy.

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Imidazole is a promising anhydrous proton conductor with a high conductivity comparable to that of water at a similar temperature relative to its melting point. Previous theoretical studies of the mechanism of proton transport in imidazole have relied either on empirical models or on trajectories that have been too short to draw significant conclusions. Here, we present the results of multiple time-step molecular dynamics simulations of an excess proton in liquid imidazole reaching 1 ns in total simulation time.

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Rate theories have found great utility across the chemical sciences by providing a physically transparent way to analyze dynamical processes. Here we demonstrate the benefits of using transition state theory and Marcus theory to study the rate of proton transfer in HCl solutions. By using long molecular dynamics simulations, we show that good agreement is obtained between these two different formulations of rate theory and how they can be used to study the pathways and lifetime of proton transfer in aqueous solution.

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Cellular retinoid-binding proteins (BP) chaperone retinol through esterification, conversion of retinol into retinal, reduction of retinal, conversion of retinal into all-trans-retinoic acid (ATRA), and ATRA to catabolism. They also deliver ATRA to nuclear receptors and mediate non-genomic ATRA actions. These retinoid-specific binding-proteins include: cellular retinol binding-protein, type 1 (Crbp1), cellular retinol binding-protein type 2 (Crbp2), cellular retinol binding-protein type 3 (Crbp3), cellular retinoic acid binding-protein type 1 (Crabp1); cellular retinoic acid binding-protein type 2 (Crabp2).

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Generation of the autacoid all-trans-retinoic acid (ATRA) from retinol (vitamin A) relies on a complex metabolon that includes retinol binding-proteins and enzymes from the short-chain dehydrogenase/reductase and aldehyde dehydrogenase gene families. Serum retinol binding-protein delivers all-trans-retinol (vitamin A) from blood to cells through two membrane receptors, Stra6 and Rbpr2. Stra6 and Rbpr2 convey retinol to cellular retinol binding-protein type 1 (Crbp1).

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We report a high-performance, liquid chromatography/tandem mass spectrometry (HPLC-MS/MS) assay to quantify without derivatizaton dehyroepiandrosterone (DHEA), 17β-estradiol (E2), testosterone (T), and their sulfates in serum and tissues. This assay functions well with multiple adipose depots, a previously unattained analysis. To delipidate and facilitate recovery, tissues were homogenized in acetonitrile, and the homogenate was frozen.

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Simulating optical spectra in the condensed phase remains a challenge for theory due to the need to capture spectral signatures arising from anharmonicity and dynamical effects, such as vibronic progressions and asymmetry. As such, numerous simulation methods have been developed that invoke different approximations and vary in their ability to capture different physical regimes. Here, we use several models of chromophores in the condensed phase and ab initio molecular dynamics simulations to rigorously assess the applicability of methods to simulate optical absorption spectra.

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