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1.
Commun Med (Lond) ; 4(1): 26, 2024 Feb 21.
Article in English | MEDLINE | ID: mdl-38383761

ABSTRACT

BACKGROUND: Geographical variations in mood and psychotic disorders have been found in upper-income countries. We looked for geographic variation in these disorders in Colombia, a middle-income country. We analyzed electronic health records from the Clínica San Juan de Dios Manizales (CSJDM), which provides comprehensive mental healthcare for the one million inhabitants of Caldas. METHODS: We constructed a friction surface map of Caldas and used it to calculate the travel-time to the CSJDM for 16,295 patients who had received an initial diagnosis of mood or psychotic disorder. Using a zero-inflated negative binomial regression model, we determined the relationship between travel-time and incidence, stratified by disease severity. We employed spatial scan statistics to look for patient clusters. RESULTS: We show that travel-times (for driving) to the CSJDM are less than 1 h for ~50% of the population and more than 4 h for ~10%. We find a distance-decay relationship for outpatients, but not for inpatients: for every hour increase in travel-time, the number of expected outpatient cases decreases by 20% (RR = 0.80, 95% confidence interval [0.71, 0.89], p = 5.67E-05). We find nine clusters/hotspots of inpatients. CONCLUSIONS: Our results reveal inequities in access to healthcare: many individuals requiring only outpatient treatment may live too far from the CSJDM to access healthcare. Targeting of resources to comprehensively identify severely ill individuals living in the observed hotspots could further address treatment inequities and enable investigations to determine factors generating these hotspots.


The frequencies of mental disorders vary by geographic region. Investigating such variations may lead to more equitable access to mental healthcare and to scientific discoveries that reveal specific localized factors that contribute to the causes of mental illness. This study examined the frequency of three disorders with a major impact on public health ­ schizophrenia, bipolar disorder, and major depressive disorder ­ by analyzing electronic health records from a hospital providing comprehensive mental health care for a large region in Colombia. We show that individuals receiving outpatient care mainly live relatively near the facility. Those receiving inpatient care live throughout the region, but cluster in a few scattered locations. Future research could lead to strategies for more equitable provision of mental healthcare in Colombia and identify environmental or genetic factors that affect the likelihood that someone will develop one of these disorders.

2.
medRxiv ; 2023 Oct 02.
Article in English | MEDLINE | ID: mdl-37873340

ABSTRACT

Bipolar Disorder (BD) is a severe and chronic disorder characterized by recurrent episodes of depression, mania, and/or hypomania. Most BD patients initially present with depressive symptoms, resulting in a delayed diagnosis of BD and poor clinical outcomes. This study leverages electronic health record (EHR) data from the Clínica San Juan de Dios Manizales in Colombia to identify features predictive of the transition from Major Depressive Disorder (MDD) to BD. Analyzing EHR data from 13,607 patients diagnosed with MDD over 15 years, we identified 1,610 cases of conversion to BD. Using a multivariate Cox regression model, we identified severity of the initial MDD episode, the presence of psychosis and hospitalization at first episode, family history of mood or psychotic disorders, female gender to be predictive of the conversion to BD. Additionally, we observed associations with medication classes (prescriptions of mood stabilizers, antipsychotics, and antidepressants) and clinical features (delusions, suicide attempt, suicidal ideation, use of marijuana and alcohol use/abuse) derived from natural language processing (NLP) of clinical notes. Together, these risk factors predicted BD conversion within five years of the initial MDD diagnosis, with a recall of 72% and a precision of 38%. Our study confirms many previously identified risk factors identified through registry-based studies (such as female gender and psychotic depression at the index MDD episode), and identifies novel ones (specifically, suicidal ideation and suicide attempt extracted from clinical notes). These results simultaneously demonstrate the validity of using EHR data for predicting BD conversion as well as underscore its potential for the identification of novel risk factors and improving early diagnosis.

3.
J Craniofac Surg ; 34(7): 1978-1984, 2023 Oct 01.
Article in English | MEDLINE | ID: mdl-37449578

ABSTRACT

Orofacial clefts (OFC) remain among the most prevalent congenital abnormalities worldwide. In the United States in 2010 to 2014, 16.2 of 10,000 live births are born with OFC compared with 23.6 of 10,000 in Alta Verapaz, Guatemala in 2012. Demographics and cleft severity scores were retrospectively gathered from 514 patients with isolated OFC at the Children's Hospital of Philadelphia scheduled for surgery from 2012 to 2019 and from 115 patients seen during surgical mission trips to Guatemala City from 2017 to 2020. Risk factors were also gathered prospectively from Guatemalan families. The Guatemalan cohort had a significantly lower prevalence of cleft palate only compared with the US cohort, which may be a result of greater cleft severity in the population or poor screening and subsequent increased mortality of untreated cleft palate. Of those with lip involvement, Guatemalan patients were significantly more likely to have complete cleft lip, associated cleft palate, and right-sided and bilateral clefts, demonstrating an increased severity of Guatemalan cleft phenotype. Primary palate and lip repair for the Guatemalan cohort occurred at a significantly older age than that of the US cohort, placing Guatemalan patients at increased risk for long-term complications such as communication difficulties. Potential OFC risk factors identified in the Guatemalan cohort included maternal cooking-fire and agricultural chemical exposure, poor prenatal vitamin intake, poverty, and risk factors related to primarily corn-based diets. OFC patients who primarily rely on surgical missions for cleft care would likely benefit from more comprehensive screening and investigation into risk factors for more severe OFC phenotypes.

7.
Sci Total Environ ; 788: 147721, 2021 Sep 20.
Article in English | MEDLINE | ID: mdl-34134358

ABSTRACT

A pilot-scale expanded target assessment of mixtures of inorganic and organic contaminants in point-of-consumption drinking water (tapwater, TW) was conducted in Puerto Rico (PR) to continue to inform TW exposures and corresponding estimations of cumulative human-health risks across the US. In August 2018, a spatial synoptic pilot assessment of than 524 organic and 37 inorganic chemicals was conducted in 14 locations (7 home; 7 commercial) across PR. A follow-up 3-day temporal assessment of TW variability was conducted in December 2018 at two of the synoptic locations (1 home, 1 commercial) and included daily pre- and post-flush samples. Concentrations of regulated and unregulated TW contaminants were used to calculate cumulative in vitro bioactivity ratios and Hazard Indices (HI) based on existing human-health benchmarks. Synoptic results confirmed that human exposures to inorganic and organic contaminant mixtures, which are rarely monitored together in drinking water at the point of consumption, occurred across PR and consisted of elevated concentrations of inorganic contaminants (e.g., lead, copper), disinfection byproducts (DBP), and to a lesser extent per/polyfluoroalkyl substances (PFAS) and phthalates. Exceedances of human-health benchmarks in every synoptic TW sample support further investigation of the potential cumulative risk to vulnerable populations in PR and emphasize the importance of continued broad characterization of drinking-water exposures at the tap with analytical capabilities that better represent the complexity of both inorganic and organic contaminant mixtures known to occur in ambient source waters. Such health-based monitoring data are essential to support public engagement in source water sustainability and treatment and to inform consumer point-of-use treatment decision making in PR and throughout the US.


Subject(s)
Drinking Water , Water Pollutants, Chemical , Water Purification , Drinking Water/analysis , Environmental Monitoring , Humans , Puerto Rico , Water , Water Pollutants, Chemical/analysis
8.
J Craniofac Surg ; 32(3): 947-951, 2021 May 01.
Article in English | MEDLINE | ID: mdl-33654048

ABSTRACT

ABSTRACT: In the pediatric general surgery literature, it has been shown that prenatal diagnosis of a congenital anomaly is an independent predictor of parental psychological distress. Surgical prenatal counseling can decrease parental anxiety by helping families understand the surgical needs and potential outcomes of their infant. In this retrospective analysis (n = 440), the authors sought to present our care pathway for prenatally diagnosed cleft lip and palate (CL/P) and explore the impact of cleft lip and palate-specific prenatal counseling on patient care by comparing the timing of clinical and surgical care between a cohort of patients who received prenatal CL/P consultation and a cohort of patients only seen postnatally. The authors hypothesize that our multidisciplinary prenatal care intervention is associated with earlier postnatal clinic visits and surgical repair. The care of all patients whose mother's presented for prenatal CL/P consultation (prenatal cohort, n = 118) was compared to all new CL/P patients without prenatal consultation at our institution (postnatal cohort, n = 322) from January 2015 through August 2019. 81.4% (n = 96) of the prenatal cohort returned for care postnatally while 2 pregnancies were interrupted, four neonates died, and 15 patients did not return for care. Prenatal consultation was associated with earlier postnatal clinic appointments (P < 0.001) as well as a shorter time to CL repair in patients with CL only (P = 0.002) and CLP (P = 0.047). Our described pre- and postnatal CL/P pathway is a multidisciplinary model associated with high retention rates from the prenatal period through complete surgical repair.


Subject(s)
Cleft Lip , Cleft Palate , Child , Cleft Lip/surgery , Cleft Palate/surgery , Counseling , Female , Humans , Infant , Infant, Newborn , Pregnancy , Prenatal Care , Retrospective Studies
9.
Ann Plast Surg ; 86(3): 251-256, 2021 03 01.
Article in English | MEDLINE | ID: mdl-33555679

ABSTRACT

BACKGROUND: Linton A. Whitaker is a pioneer of craniofacial surgery. He served as chief of plastic surgery at the Children's Hospital of Philadelphia and University of Pennsylvania and director of the craniofacial training program. Herein, the authors reflect on his legacy by studying the accomplishments of his trainees. METHODS: Dr Whitaker's trainees who completed (a) craniofacial fellowship training while he was director of the program or (b) residency training while he was chief were identified. Curricula vitae were reviewed. Variables analyzed included geographic locations, practice types, academic leadership positions, scholarly work, and bibliometric data. RESULTS: Between 1980 and 2011, 34 surgeons completed craniofacial fellowship training under Dr Whitaker, and 11 completed plastic surgery training under his chairmanship and subsequent craniofacial fellowship. The majority had active craniofacial practices after training (83.3%) and practice in an academic setting (78.0%). Most settled in the northeast (31.1%) and south (31.1%) but across 24 states nationally. Overall, the mean ± SD number of publications was 76 ± 81 (range, 2-339); book chapters, 23 ± 29 (0-135); H-index, 18 ± 12 (1-45); and grants, 13 ± 16 (0-66). Of those who pursued academia, 53.1% were promoted to full professor, 46.9% had a program director role, 75.0% directed a craniofacial program, and 53.1% achieved the rank of chief/chair. CONCLUSIONS: Equally important to Dr Whitaker's clinical contributions in plastic and craniofacial surgery is the development and success of his trainees who will undoubtedly continue the legacy of training the next generation of craniofacial surgeon leaders.


Subject(s)
Internship and Residency , Surgeons , Surgery, Plastic , Child , Fellowships and Scholarships , Humans , Male , Philadelphia , Surgery, Plastic/education
10.
Plast Reconstr Surg Glob Open ; 8(7): e2902, 2020 Jul.
Article in English | MEDLINE | ID: mdl-32802642

ABSTRACT

This study investigates laypersons' perceptions of congenital ear deformities and preferences for treatment, particularly with ear molding therapy-an effective, noninvasive, yet time-sensitive treatment. METHODS: Laypersons were recruited via crowdsourcing to view photographs of normal ears or one of the following ear deformities, pre- and post-molding: constricted, cryptotia, cupped/lopped, helical rim deformity, prominent, and Stahl. Participants answered questions regarding perceptions and treatment preferences for the ear. Statistical analyses included multiple linear and logistic regressions and Wilcoxon signed-rank tests. RESULTS: A total of 983 individuals participated in the study. All deformities were perceived as significantly abnormal, likely to impair hearing, and associated with lower psychosocial quality of life (all P < 0.001). For all deformities, participants were likely to choose ear molding over surgery despite the logistical and financial implications of ear molding (all P < 0.02). Participants were significantly more satisfied with the outcome of ear molding in all deformities compared with control, except constricted ears (all P < 0.002, except Pconstricted = 0.073). Concern for hearing impairment due to ear deformity was associated with increased likelihoods of seeing a physician (P < 0.001) and choosing ear molding despite treatment logistics and costs (all P < 0.001). CONCLUSIONS: Laypersons perceived all ear deformities as abnormal and associated with low psychosocial quality of life. Despite logistical and financial implications, laypersons generally desired molding therapy for ear deformities; treatment outcomes were satisfactory for all deformities except constricted ears. Timely diagnosis of this condition is crucial to reaping the benefits of ear molding therapy.

11.
J Craniofac Surg ; 31(7): 1900-1905, 2020 Oct.
Article in English | MEDLINE | ID: mdl-32604283

ABSTRACT

INTRODUCTION: While the use of virtual surgical planning (VSP) has been well described in the adult craniofacial literature, there has been little written about pediatric uses or trends. The purpose of this study is to evaluate the evolving utilization of VSP for pediatric craniofacial procedures. METHODS: The authors' prospective institutional review board-approved craniofacial registry was queried for index craniofacial procedures from January 2011 through December 2018. Data was collected regarding utilization of traditional surgical planning versus VSP, as well as the extent of VSP's influence on the operative procedure. These data were analyzed for trends over time and compared using appropriate statistics. RESULTS: During the study period, a total of 1131 index craniofacial cases were performed, of which 160 cases (14.1%) utilized VSP. Utilization of VSP collectively increased over time, from 2.0% in 2011 to 18.6% in 2018 (P < 0.001). Utilization rates of VSP varied across procedures from 0% of craniosynostosis cases and fronto-orbital advancement cases to 67% of osteocutaneous free tissue transfers (P < 0.001). The most profound contributor to increase in VSP utilization was orthognathic surgery, utilized in 0% of orthognathic procedures in 2011 to 68.3% of orthognathic procedures in 2018 (P < 0.001). CONCLUSIONS: Utilization of virtual surgical planning for pediatric craniofacial procedures is increasing, especially for complex orthognathic procedures and osteocutaneous free tissue transfers. Utilization patterns of individual components of the VSP system demonstrate unique footprints across the spectrum of craniofacial procedures, which reinforces the specific and variable benefits of this workflow for treating pediatric craniofacial disorders.


Subject(s)
Orthognathic Surgical Procedures , Child , Humans , Prospective Studies , Specialties, Surgical , Surgery, Computer-Assisted/methods , Workflow
12.
J Craniofac Surg ; 31(4): 1010-1014, 2020 Jun.
Article in English | MEDLINE | ID: mdl-32503095

ABSTRACT

PURPOSE: How different from "normal" are the cranial base and vault of infants with nonsyndromic, single-suture sagittal synostosis (NSSS)? This study quantitatively addresses this question utilizing computed tomography (CT) analytic technology. METHOD: Head CT scans of infants with NSSS and normocephalic controls were analyzed using Mimics to calculate craniometric angles, distances, and segmented volumes. Craniometric measurements and asymmetry indices were compared between NSSS and control groups using linear regressions controlling for age. Ratios of anterior-, middle-, and posterior-to-total cranial vault volume were compared between groups using beta regressions controlling for age. RESULTS: Seventeen patients with NSSS and 19 controls were identified. Cranial index and interoccipital angle were significantly smaller in NSSS compared with controls (P = 0.003 and <0.001, respectively). Right-but not left-external acoustic meatus angle and internal acoustic meatus-to-midline distance were significantly greater in NSSS than in controls (P = 0.021 and 0.016, respectively). NSSS patients and controls did not significantly differ in any asymmetry indices, except for the articular fossa angle asymmetry index (P = 0.016). Anterior vault volume proportion was greater in NSSS relative to controls (proportion ratio = 1.63, P < 0.001). NSSS trended toward a smaller posterior vault volume proportion (P = 0.068) yet did not differ in middle vault volume proportion compared with controls. CONCLUSION: In this small study, patients with nonsyndromic, single-suture sagittal craniosynostosis had relatively similar cranial base measurements, and larger anterior vault volumes, when compared with controls. Further work is needed to confirm the possibility of rightward asymmetry of the anterior cranial base.


Subject(s)
Cephalometry , Cranial Sutures/surgery , Craniosynostoses/surgery , Skull Base/surgery , Craniosynostoses/diagnostic imaging , Ear Canal/diagnostic imaging , Ear Canal/surgery , Female , Humans , Infant , Male , Skull Base/diagnostic imaging , Tomography, X-Ray Computed/methods
13.
J Craniofac Surg ; 31(6): 1775-1779, 2020 Sep.
Article in English | MEDLINE | ID: mdl-32502111

ABSTRACT

Midface advancement by distraction osteogenesis (DO) is commonly performed in patients with craniosynostosis for indications including midface hypoplasia, exorbitism, obstructive sleep apnea, class III malocclusion, and overall aesthetic facial deficiency. There is evidence to suggest that maxillary LeFort I advancement increases the risk of velopharyngeal dysfunction in the cleft palate population, yet few studies have investigated changes in speech following LeFort III or monobloc midface advancement in patients with syndromic craniosynostosis. The purpose of this study was to examine the effect of midface DO on speech as indicated by the Pittsburgh Weighted Speech Score in patients with Apert, Crouzon, and Pfeiffer Syndrome. Among 73 midface advancement cases performed during the study period, 19 cases met inclusion criteria. Overall, the highest post-advancement Pittsburgh Weighted Speech Score (PWSS) was significantly higher than the pre-advancement PWSS (0.52 versus 2.42, P = 0.01), indicating an acute worsening of VPI post-advancement. Specifically, the PWSS components nasal emission and nasality were significantly higher post-advancement than pre-advancement (nasal emission: 1.16 versus 0.21, P = 0.02) (nasality: 0.68 versus 0.05, P = 0.04). However, there was no significant difference between pre-advancement PWSS and the latest post-advancement PWSS (P = 0.31). Midface distraction is associated with an acute worsening of VPI post-operatively that is followed by improvement, and often resolution over time. Future work with additional patient accrual is needed to determine the effect of different advancement procedures and syndromes on VPI rates and profundity.


Subject(s)
Craniosynostoses/surgery , Speech , Cleft Palate/surgery , Female , Humans , Male , Osteogenesis, Distraction/methods , Postoperative Period , Retrospective Studies , Time Factors
14.
J Craniofac Surg ; 31(6): 1613-1619, 2020 Sep.
Article in English | MEDLINE | ID: mdl-32487828

ABSTRACT

BACKGROUND: Uncertain clinical evidence for treating positional plagiocephaly, especially with helmet therapy, creates difficulties in counseling parents of patients. This study investigates layperson perceptions and treatment preferences for positional plagiocephaly to provide patient-oriented evidence for management. METHODS: Adult laypersons were recruited through crowdsourcing to view digitally-modified images of normal, mildly, moderately, or severely plagiocephalic infant heads. Participants provided demographic information and rated the infant's head shape and potential related social difficulties, likelihood of consulting a physician for treatment options, and likelihood of seeking helmeting treatment for the infant. RESULTS: Nine hundred forty-five individuals participated in the study. Perception of head shape, prediction of future embarrassment and social difficulties, likelihood of seeking physician evaluation, likelihood of choosing helmet therapy, and willingness-to-pay for helmet therapy were pairwise-different between 4 plagiocephaly severities (corrected-P < 0.001 for all), except between normocephaly (n = 194) and mild (n = 334) plagiocephaly or between moderate (n = 203) and severe (n = 214) plagiocephaly. Younger respondents were more likely to consult a physician (uncorrected-P = 0.016) and choose helmet therapy (uncorrected-P = 0.004) for infants with normocephaly or mild plagiocephaly. Parents of children with physical disabilities were 6 times as likely as other participants to choose helmet therapy for mild plagiocephaly (corrected-P = 0.036). CONCLUSIONS: Laypersons perceived moderate and severe plagiocephaly as equally abnormal and mild plagiocephaly as normal, consistent with their treatment preferences. Parents of physically disabled children were significantly more likely than other participants to choose helmet therapy. Our findings provide medical professionals with lay perspectives on positional plagiocephaly that may facilitate effective counseling of parents.


Subject(s)
Plagiocephaly, Nonsynostotic/therapy , Adult , Child , Female , Head Protective Devices , Humans , Male , Parents/psychology , Perception , Plagiocephaly , Plagiocephaly, Nonsynostotic/diagnostic imaging , Treatment Outcome
16.
Lancet Psychiatry ; 7(5): 411-419, 2020 05.
Article in English | MEDLINE | ID: mdl-32353276

ABSTRACT

BACKGROUND: Severe mental illness diagnoses have overlapping symptomatology and shared genetic risk, motivating cross-diagnostic investigations of disease-relevant quantitative measures. We analysed relationships between neurocognitive performance, symptom domains, and diagnoses in a large sample of people with severe mental illness not ascertained for a specific diagnosis (cases), and people without mental illness (controls) from a single, homogeneous population. METHODS: In this case-control study, cases with severe mental illness were ascertained through electronic medical records at Clínica San Juan de Dios de Manizales (Manizales, Caldas, Colombia) and the Hospital Universitario San Vicente Fundación (Medellín, Antioquía, Colombia). Participants were assessed for speed and accuracy using the Penn Computerized Neurocognitive Battery (CNB). Cases had structured interview-based diagnoses of schizophrenia, bipolar 1, bipolar 2, or major depressive disorder. Linear mixed models, using CNB tests as repeated measures, modelled neurocognition as a function of diagnosis, sex, and all interactions. Follow-up analyses in cases included symptom factor scores obtained from exploratory factor analysis of symptom data as main effects. FINDINGS: Between Oct 1, 2017, and Nov 1, 2019, 2406 participants (1689 cases [schizophrenia n=160; bipolar 1 disorder n=519; bipolar 2 disorder n=204; and major depressive disorder n=806] and 717 controls; mean age 39 years (SD 14); and 1533 female) were assessed. Participants with bipolar 1 disorder and schizophrenia had similar impairments in accuracy and speed across cognitive domains. Participants with bipolar 2 disorder and major depressive disorder performed similarly to controls, with subtle deficits in executive and social cognition. A three-factor model (psychosis, mania, and depression) best represented symptom data. Controlling for diagnosis, premorbid IQ, and disease severity, high lifetime psychosis scores were associated with reduced accuracy and speed across cognitive domains, whereas high depression scores were associated with increased social cognition accuracy. INTERPRETATION: Cross-diagnostic investigations showed that neurocognitive function in severe mental illness is characterised by two distinct profiles (bipolar 1 disorder and schizophrenia, and bipolar 2 disorder and major depressive disorder), and is associated with specific symptom domains. These results suggest the utility of this design for elucidating severe mental illness causes and trajectories. FUNDING: US National Institute of Mental Health.


Subject(s)
Bipolar Disorder/psychology , Cognition Disorders/psychology , Cognition , Depressive Disorder, Major/psychology , Schizophrenic Psychology , Adult , Case-Control Studies , Colombia , Female , Humans , Linear Models , Male , Middle Aged , Young Adult
17.
J Pediatr ; 217: 172-176.e1, 2020 02.
Article in English | MEDLINE | ID: mdl-31761430

ABSTRACT

OBJECTIVE: To evaluate adherence to annual transcranial Doppler ultrasound (TCD) screening to prevent stroke among patients with sickle cell anemia (SCA) seen in the emergency department (ED). STUDY DESIGN: This retrospective chart review included patients with SCA seen at a large pediatric ED over 64 weeks. Patients who did not need a TCD (age <2 or ≥16 years, on chronic transfusions, history of an inadequate TCD) or were not followed at the study institution were excluded. Patients who had received a TCD in the last 12 months (TCD adherent) were compared with patients who had not (TCD nonadherent). RESULTS: During the study period, 257 patients with SCA in need of an annual TCD were identified and 63 patients (25%) had not received an annual TCD, including 19 patients (7%) who had never had a TCD. All TCD adherent patients had a clinic visit in the last year compared with 75% of TCD nonadherent patients, P < .0001. The mean interval time since the last hematology clinic appointment from the ED encounter was greater for the TCD nonadherent group: 70 vs 270 days, P < .0001. Demographics including markers of socioeconomic status were not significantly different between the 2 groups. CONCLUSIONS: Patients with SCA who present to the ED and are nonadherent to TCD screening guidelines are less likely to have had a recent hematology clinic visit. Future interventions to improve screening for stroke in SCA should target this patient population seen in the ED but not clinic.


Subject(s)
Anemia, Sickle Cell/complications , Cerebrovascular Circulation/physiology , Emergency Service, Hospital , Mass Screening/methods , Patient Compliance , Stroke/diagnosis , Ultrasonography, Doppler, Transcranial/methods , Adolescent , Anemia, Sickle Cell/diagnosis , Child , Child, Preschool , District of Columbia/epidemiology , Female , Follow-Up Studies , Humans , Incidence , Male , Retrospective Studies , Stroke/epidemiology , Stroke/etiology
18.
J Pediatr ; 198: 53-59, 2018 07.
Article in English | MEDLINE | ID: mdl-29628414

ABSTRACT

OBJECTIVE: To describe the incidence and characteristics of central venous catheter (CVC)-related thrombosis in hospitalized pediatric patients with active inflammatory bowel disease (IBD) and report the potential usefulness of anticoagulant thromboprophylaxis (AT). STUDY DESIGN: We conducted a retrospective study of patients who were admitted to our children's hospital in the last 2 years with active IBD and required a CVC and identified all patients with an objectively confirmed symptomatic CVC-related thrombosis. To assess the usefulness of a recently implemented institutional AT protocol, we compared the frequency of CVC-related thrombosis, nadir hemoglobin, and red blood cell transfusion requirements in patients who received AT with those who did not during the study period. RESULTS: A total of 40 patients with IBD who required 47 consecutive hospitalizations were included. AT was administered during 24 of 47 hospitalizations (51%). Patients who received AT were similar to those who did not receive AT with regard to demographics, IBD phenotypes, extent of colonic involvement, and thrombotic risk factors. CVC-related thrombosis occurred in 5 of 23 hospitalizations (22%) in which AT was withheld compared with 0 of 24 hospitalizations (0%) in which patients received AT (P = .02). The red blood cell transfusion requirements and nadir hemoglobin were not significantly different between the 2 groups. CONCLUSIONS: We observed a high incidence of CVC-related thrombosis in hospitalized children with IBD. Administration of AT in our population was associated with significant reduction in CVC-related thrombosis without evidence of increased bleeding.


Subject(s)
Anticoagulants/therapeutic use , Catheterization, Central Venous/adverse effects , Central Venous Catheters/adverse effects , Enoxaparin/therapeutic use , Inflammatory Bowel Diseases/therapy , Venous Thrombosis/epidemiology , Adolescent , Child , Female , Hospitalization , Humans , Incidence , Male , Retrospective Studies , Venous Thrombosis/prevention & control
19.
PLoS Genet ; 12(5): e1006046, 2016 05.
Article in English | MEDLINE | ID: mdl-27176483

ABSTRACT

The observation that variants regulating gene expression (expression quantitative trait loci, eQTL) are at a high frequency among SNPs associated with complex traits has made the genome-wide characterization of gene expression an important tool in genetic mapping studies of such traits. As part of a study to identify genetic loci contributing to bipolar disorder and other quantitative traits in members of 26 pedigrees from Costa Rica and Colombia, we measured gene expression in lymphoblastoid cell lines derived from 786 pedigree members. The study design enabled us to comprehensively reconstruct the genetic regulatory network in these families, provide estimates of heritability, identify eQTL, evaluate missing heritability for the eQTL, and quantify the number of different alleles contributing to any given locus. In the eQTL analysis, we utilize a recently proposed hierarchical multiple testing strategy which controls error rates regarding the discovery of functional variants. Our results elucidate the heritability and regulation of gene expression in this unique Latin American study population and identify a set of regulatory SNPs which may be relevant in future investigations of complex disease in this population. Since our subjects belong to extended families, we are able to compare traditional kinship-based estimates with those from more recent methods that depend only on genotype information.


Subject(s)
Bipolar Disorder/genetics , Genetic Predisposition to Disease , Genome-Wide Association Study , Quantitative Trait Loci/genetics , Alleles , Bipolar Disorder/pathology , Chromosome Mapping , Colombia , Costa Rica , Female , Gene Expression , Gene Regulatory Networks , Humans , Male , Polymorphism, Single Nucleotide/genetics
20.
J AAPOS ; 19(5): 441-4, 2015 Oct.
Article in English | MEDLINE | ID: mdl-26486026

ABSTRACT

BACKGROUND: The Spot Vision Screener has demonstrated good sensitivity and specificity in the pediatric ophthalmology clinic setting. We sought to evaluate the updated Spot (version 2.0.16) in a general pediatric population through a collaboration of the Storm Eye Institute of the Medical University of South Carolina, the Clinica Dr Clorito Picado, and National Children's Hospital of Costa Rica. We compared results of screening with the Spot and pediatric ophthalmologic examination and determined sensitivity and specificity of the Spot in detecting amblyogenic risk factors (ARFs) according to the 2013 AAPOS Vision Screening Committee guidelines for automated vision screeners. METHODS: Children were screened with the Spot followed by a pediatric ophthalmologic examination. Cycloplegic refraction and motility findings were analyzed by age group to determine ARFs. RESULTS: A total of 219 subjects, averaging 60 months of age (range, 20-119 mo) were included. The prevalence of ARFs in our population was 12.3% (27/219). The most common risk factor was astigmatism, with a prevalence of 8.7% (19/219). The Spot referred 43 children (19.6%). Sensitivity of the Spot was 92.6%; specificity, 90.6%. The positive predictive value was 58.1%; the negative predictive value, 98.9%. CONCLUSIONS: The Spot demonstrated good sensitivity and specificity in detecting amblyopia risk factors in this general pediatric population.


Subject(s)
Amblyopia/diagnosis , Vision Screening/instrumentation , Amblyopia/epidemiology , Child , Child, Preschool , Costa Rica/epidemiology , False Positive Reactions , Female , Humans , Infant , Male , Predictive Value of Tests , Prevalence , Prospective Studies , Retinoscopy , Risk Factors , Sensitivity and Specificity
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