Otodental Dysplasia

Last update 01 Nov 2024

Basic Info

Synonyms

CHROMOSOME 11q13 DELETION SYNDROME, Chromosome 11q13 Deletion Syndrome, Globodontia

+ [15]

Introduction

A very rare inherited condition with characteristics of grossly enlarged canine and molar teeth (globodontia) associated with bilateral sensorineural high-frequency hearing deficit with an age of onset that varies from early childhood to middle age. Variable facial dysmorphism has also been reported. Haploinsufficiency in the fibroblast growth factor 3 (FGF3) gene (11q13) has been reported in patients with otodental syndrome and is thought to cause the phenotype. The condition appears to be inherited in an autosomal dominant manner with complete to variable penetrance and variable expressivity.

100 Clinical Results associated with Otodental Dysplasia

100 Translational Medicine associated with Otodental Dysplasia

0 Patents (Medical) associated with Otodental Dysplasia

Literatures (Medical) associated with Otodental Dysplasia

01 Jun 2024·American Journal of Preventive Medicine

Trends in Fatal Opioid-Related Overdose in American Indian and Alaska Native Communities, 1999–2021

Article

Author: Woods, Cedric ; Li, Xiaona ; Hassan, Ghada H ; Cordes, Jack ; Ackerson, Leland K ; Stopka, Thomas J ; Li, Wenjun ; Bernson, Dana ; Larochelle, Marc R ; Bayly, Ric ; Bauer, Cici

INTRODUCTIONOpioid-related overdose mortality rates have increased sharply in the U.S. over the past two decades, and inequities across racial and ethnic groups have been documented. Opioid-related overdose trends among American Indian and Alaska Natives require further quantification and assessment.METHODSObservational, U.S. population-based registry data on opioid-related overdose mortality between 1999 and 2021 were extracted in 2023 using ICD-10 codes from the U.S. Centers for Disease Control and Prevention's Wide-Ranging Online Data for Epidemiologic Research multiple cause of death file by race, Hispanic ethnicity, sex, and age. Segmented time series analyses were conducted to estimate opioid-related overdose mortality growth rates among the American Indian and Alaska Native population between 1999 and 2021. Analyses were performed in 2023.RESULTSTwo distinct time segments revealed significantly different opioid-related overdose mortality growth rates within the overall American Indian and Alaska Native population, from 0.36 per 100,000 (95% CI=0.32, 0.41) between 1999 and 2019 to 6.5 (95% CI=5.7, 7.31) between 2019 and 2021, with the most pronounced increase among those aged 24-44 years. Similar patterns were observed within the American Indian and Alaska Native population with Hispanic ethnicity, but the estimated growth rates were generally steeper across most age groups than across the overall American Indian and Alaska Native population. Patterns of opioid-related overdose mortality growth rates were similar between American Indian and Alaska Native females and males between 2019 and 2021.CONCLUSIONSSharp increases in opioid-related overdose mortality rates among American Indian and Alaska Native communities are evident by age and Hispanic ethnicity, highlighting the need for culturally sensitive fatal opioid-related overdose prevention, opioid use disorder treatment, and harm-reduction efforts. Future research should aim to understand the underlying factors contributing to these high mortality rates and employ interventions that leverage the strengths of American Indian and Alaska Native culture, including the strong sense of community.

01 Jun 2024·Clinical Neurophysiology

Neurophysiological characterization of oropharyngeal dysphagia in older patients

Article

Author: Tomsen, Noemí ; Mundet, Lluís ; Ortega, Omar ; Clavé, Pere ; Guanyabens, Nicolau ; Palomeras, Ernest

OBJECTIVETo characterize swallowing biomechanics and neurophysiology in older patients with oropharyngeal dysphagia (OD).METHODSObservational study in 12 young healthy volunteers (HV), 9 older HV (OHV) and 12 older patients with OD with no previous diseases causing OD (OOD). Swallowing biomechanics were measured by videofluoroscopy, neurophysiology with pharyngeal sensory (pSEP) and motor evoked-potentials (pMEP) to intrapharyngeal electrical and transcranial magnetic stimulation (TMS), respectively, and salivary neuropeptides with enzyme-linked immunosorbent assay (ELISA).RESULTS83.3% of OOD patients had unsafe swallows (Penetration-Aspiration scale = 4.3 ± 2.1; p < 0.0001) with delayed time to laryngeal vestibule closure (362.5 ± 73.3 ms; p < 0.0001) compared to both HV groups. OOD patients had: (a) higher pharyngeal sensory threshold (p = 0.009) and delayed pSEP P1 and N2 latencies (p < 0.05 vs HV) to electrical stimulus; and (b) higher pharyngeal motor thresholds to TMS in both hemispheres (p < 0.05) and delayed pMEPs latencies (right, p < 0.0001 HV vs OHV/OOD; left, p < 0.0001 HV vs OHV/OOD).CONCLUSIONSOOD patients have unsafe swallow and delayed swallowing biomechanics, pharyngeal hypoesthesia with disrupted conduction of pharyngeal sensory inputs, and reduced excitability and delayed cortical motor response.SIGNIFICANCEThese findings suggest new elements in the pathophysiology of aging-associated OD and herald new and more specific neurorehabilitation treatments for these patients.

01 Sep 2023·The Lancet Regional Health - Americas

Associations between opioid overdose deaths and drugs confiscated by law enforcement and submitted to crime laboratories for analysis, United States, 2014–2019: an observational study

Article

Author: Pressley, DeMia ; McDonald, Hope Smiley ; Clarke, Sarah Duhart ; Zibbell, Jon E ; Grabenauer, Megan ; Heller, David ; Aldridge, Arnie

BackgroundThe overdose epidemic in the United States (US) continues to generate unprecedented levels of mortality. There is urgent need for a national data system capable of yielding high-quality, timely, and actionable information on existing and emerging drugs. Public health researchers have started using law enforcement forensic laboratory data to obtain surveillance information on illicit drugs. This study is the first to use drug reports from the entire US to examine correlations between a changing drug supply and increasing opioid-involved overdose deaths (OOD) on a national scale.MethodsThis study is observational and investigates associations between law enforcement drug reports and OOD for the US from 2014 to 2019. OOD data are from the Centers for Disease Control and Prevention's National Vital Statistics System restricted-use multiple cause of death files. The US Drug Enforcement Administration's National Forensic Laboratory Information System (NFLIS) contains forensic laboratory-tested drug exhibit information for the entire US (NFLIS-Drug). Counts of forensic laboratory reports and OOD were aggregated for each state by month, quarter, and year. A difference-in-differences framework was used to estimate contemporaneous and lagged associations.FindingsBetween 2014 and 2019 in the US, 249,522 OOD were reported, with the annual number nearly doubling from 28,723 to 50,179. OOD involving illicitly manufactured fentanyls (IMF) also increased substantially during this period, from 19.4% to 72.9%. In addition, 3,817,438 forensic laboratory reports in the US that were reported to NFLIS-Drug contained an opioid, stimulant, or benzodiazepine. Reports of fentanyl and fentanyl-related compounds (FFRC) had the strongest association with OOD. Each additional FFRC exhibit was associated with a 2.97% (95% CI: 1.7%, 4.1%) increase in OOD per 100,000 persons per quarter.InterpretationAdding to the emerging consensus, protracted growth in IMF supply was more strongly associated with OOD than all other illicit drugs reported to NFLIS-Drug over the study time period. Findings demonstrate NFLIS-Drug data usefulness for research that require proxy indicators for the illicit drugs supply. A concerted effort between public health and public safety to make NFLIS-Drug more timely could strengthen its utility as a national, public health, drug surveillance system.FundingSangeetha Arctic Slope Mission Services, LLC, ASMS Contract No. ASM5-00017.

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