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1.
Prenat Diagn ; 2024 May 12.
Article in English | MEDLINE | ID: mdl-38735835

ABSTRACT

OBJECTIVE: This study aimed to assess the detection rate of clinically significant results of prenatal exome sequencing (pES) in low-risk pregnancies and apparently normal fetuses in non-consanguineous couples. METHODS: A retrospective analysis of pES conducted at a single center from January 2020 to September 2023 was performed. Genetic counseling was provided, and detailed medical histories were obtained. High-risk pregnancies were excluded due to major ultrasound anomalies, sonographic soft markers, abnormal maternal biochemical screening, or family history suggestive of monogenic diseases as well as cases with pathogenic and likely pathogenic (P/LP) chromosomal microarray results. Exome analysis focused on ∼2100 genes associated with Mendelian genetic disorders. Variant analysis and classification followed the American College of Medical Genetics and Genomics (ACMG) guidelines. RESULTS: Among 1825 pES conducted, 1020 low-risk cases revealed 28 fetuses (2.7%) with potentially clinically significant variants indicating known monogenic diseases, primarily de novo dominant variants (64%). Among these 28 cases, 9 fetuses (0.9%) had the potential for severe phenotypes, including shortened lifespan and intellectual disability, and another 12 had the potential for milder phenotypes. Seven cases were reported with variants of uncertain significance (VUS) that, according to the ACMG criteria, leaned toward LP, constituting 0.7% of the entire cohort. Termination of pregnancy was elected in 13 out of 1020 cases (1.2%) in the cohort, including 7/9 in the severe phenotypes group, 2/12 in the milder phenotype group, and 4/7 in the VUS group. CONCLUSION: The 2.7% detection rate highlights the significant contribution of pES in low-risk pregnancies. However, it necessitates rigorous analysis, and comprehensive genetic counseling before and after testing.

2.
Pediatr Crit Care Med ; 25(3): 250-258, 2024 Mar 01.
Article in English | MEDLINE | ID: mdl-38088760

ABSTRACT

OBJECTIVES: Children who suffer traumatic brain injury (TBI) are at high risk of morbidity and mortality. We hypothesized that in patients with TBI, the abusive head trauma (AHT) mechanism vs. accidental TBI (aTBI) would be associated with higher frequency of new functional impairment between baseline and later follow-up. DESIGN: Retrospective single center cohort study. SETTING AND PATIENTS: Children younger than 3 years old admitted with TBI to the PICU at a level 1 trauma center between 2014 and 2019. INTERVENTIONS: None. MEASUREMENTS AND MAIN RESULTS: Patient characteristics, TBI mechanism, and Functional Status Scale (FSS) scores at baseline, hospital discharge, short-term (median, 10 mo [interquartile range 3-12 mo]), and long-term (median, 4 yr [3-6 yr]) postdischarge were abstracted from the electronic health record. New impairment was defined as an increase in FSS greater than 1 from baseline. Patients who died were assigned the highest score (30). Multivariable logistic regression was performed to determine the association between TBI mechanism with new impairment. Over 6 years, there were 460 TBI children (170 AHT, 290 aTBI), of which 13 with AHT and four with aTBI died. Frequency of new impairment by follow-up interval, in AHT vs. aTBI patients, were as follows: hospital discharge (42/157 [27%] vs. 27/286 [9%]; p < 0.001), short-term (42/153 [27%] vs. 26/259 [10%]; p < 0.001), and long-term (32/114 [28%] vs. 18/178 [10%]; p < 0.001). Sensory, communication, and motor domains were worse in AHT patients at the short- and long-term timepoint. On multivariable analysis, AHT mechanism was associated with greater odds (odds ratio [95% CI]) of poor outcome (death and new impairment) at hospital discharge (4.4 [2.2-8.9]), short-term (2.7 [1.5-4.9]), and long-term timepoints (2.4 [1.2-4.8]; p < 0.05). CONCLUSIONS: In patients younger than 3 years old admitted to the PICU after TBI, the AHT mechanism-vs. aTBI-is associated with greater odds of poor outcome in the follow-up period through to ~5 years postdischarge. New impairment occurred in multiple domains and only AHT patients further declined in FSS over time.


Subject(s)
Brain Injuries, Traumatic , Child Abuse , Craniocerebral Trauma , Child , Humans , Infant , Child, Preschool , Retrospective Studies , Patient Discharge , Cohort Studies , Aftercare , Brain Injuries, Traumatic/complications , Hospitals , Intensive Care Units, Pediatric
3.
Neurocrit Care ; 2023 Dec 07.
Article in English | MEDLINE | ID: mdl-38062303

ABSTRACT

BACKGROUND: Abusive head trauma (AHT) is a mechanism of pediatric traumatic brain injury (TBI) with high morbidity and mortality. Multiorgan dysfunction syndrome (MODS), defined as organ dysfunction in two or more organ systems, is also associated with morbidity and mortality in critically ill children. Our objective was to compare the frequency of MODS and evaluate its association with outcome between AHT and accidental TBI (aTBI). METHODS: This was a single center, retrospective cohort study including children under 3 years old admitted to the pediatric intensive care unit with nonpenetrating TBI between 2014 and 2021. Presence or absence of MODS on days 1, 3, and 7 using the Pediatric Logistic Organ Dysfunction-2 score and new impairment status (Functional Status Scale score change > 1 compared with preinjury) at hospital discharge (HD), short-term timepoint, and long-term timepoint were abstracted from the electronic health record. Multiple logistic regression was performed to examine the association between MODS and TBI mechanism with new impairment status. RESULTS: Among 576 children, 215 (37%) had AHT and 361 (63%) had aTBI. More children with AHT had MODS on days 1 (34% vs. 23%, p = 0.003), 3 (28% vs. 6%, p < 0.001), and 7 (17% vs. 3%, p < 0.001) compared with those with aTBI. The most common organ failures were cardiovascular ([AHT] 66% vs. [aTBI] 66%, p = 0.997), neurologic (33% vs. 16%, p < 0.001), and respiratory (34% vs. 15%, p < 0.001). MODS was associated with new impairment in multivariable logistic regression at HD (odds ratio 19.1 [95% confidence interval 9.8-38.6, p < 0.001]), short-term discharge (7.4 [3.7-15.2, p < 0.001]), and long-term discharge (4.3 [2.0-9.4, p < 0.001])]. AHT was also associated with new impairment at HD (3.4 [1.6-7.3, p = 0.001]), short-term discharge (2.5 [1.3-4.7, p = 0.005]), and long-term discharge (2.1 [1.1-4.1, p = 0.036]). CONCLUSIONS: Abusive head trauma as a mechanism was associated with MODS following TBI. Both AHT mechanism and MODS were associated with new impairment at all time points.

4.
J Pediatr ; 243: 181-187.e2, 2022 04.
Article in English | MEDLINE | ID: mdl-34929244

ABSTRACT

OBJECTIVES: To evaluate the impact of layering routine child abuse screening on top of a preexisting electronic health record-embedded Child Abuse Clinical Decision Support System (CA-CDSS) in a pediatric emergency department. STUDY DESIGN: The Pittsburgh Child Abuse Screening Tool (P-CAST) was performed in all children aged <13 years and in nonverbal children aged ≥13 years who presented to a pediatric tertiary care center over a 6-month period. The P-CAST was layered on top of a preexisting CA-CDSS that included passive triggers, alerts, and abuse-specific order sets. RESULTS: Of the 28 797 screens performed, 1.8% were positive in children aged <13 years and 1.6% were positive in nonverbal children aged ≥13 years. One-half of the children with a positive P-CAST also triggered the CA-CDSS; the other one-half triggered only because of the P-CAST. Nineteen percent of the patients with a positive P-CAST were reported to Child Protective Services (CPS). There was no relationship between race and the odds of a positive P-CAST or between race and the likelihood of a report being made to CPS. CONCLUSIONS: Active routine child abuse screening improves identification of suspected child maltreatment in a children's hospital above and beyond what is identified with a CA-CDSS, which depends on passive triggers. The lack of a relationship between race and a positive P-CAST or a report to CPS suggest that systematic child abuse screening may mitigate well-recognized racial disparities in identifying and reporting suspected child maltreatment.


Subject(s)
Child Abuse , Hospitals, Pediatric , Child , Child Abuse/diagnosis , Child Abuse/prevention & control , Child Protective Services , Humans , Mandatory Reporting , Tertiary Healthcare
5.
Am J Med Genet A ; 188(7): 1990-1996, 2022 07.
Article in English | MEDLINE | ID: mdl-35312147

ABSTRACT

Interstitial deletions of 16q24.1-q24.2 are associated with alveolar capillary dysplasia, congenital renal malformations, neurodevelopmental disorders, and congenital abnormalities. Lymphedema-Distichiasis syndrome (LDS; OMIM # 153400) is a dominant condition caused by heterozygous pathogenic variants in FOXC2. Usually, lymphedema and distichiasis occur in puberty or later on, and affected individuals typically achieve normal developmental milestones. Here, we describe a boy with congenital lymphedema, distichiasis, bilateral hydronephrosis, and global developmental delay, with a de novo microdeletion of 894 kb at 16q24.1-q24.2. This report extends the phenotype of both 16q24.1-q24.2 microdeletion syndrome and of LDS. Interestingly, the deletion involves only the 3'-UTR part of FOXC2.


Subject(s)
Eyelashes , Lymphedema , Neurodevelopmental Disorders , Eyelashes/abnormalities , Forkhead Transcription Factors/genetics , Humans , Lymphedema/complications , Lymphedema/diagnosis , Lymphedema/genetics , Neurodevelopmental Disorders/complications , Neurodevelopmental Disorders/diagnosis , Neurodevelopmental Disorders/genetics
6.
Prenat Diagn ; 42(6): 725-735, 2022 05.
Article in English | MEDLINE | ID: mdl-34918830

ABSTRACT

OBJECTIVE: Data on the value of exome sequencing in fetuses with no structural anomalies are limited, especially in the early stages of pregnancy and in low risk pregnancies. We investigated the yield of targeted clinical prenatal trio exome sequencing (pES) in pregnancies with and without fetal structural anomalies. METHODS: We performed pES in 353 pregnancies: Group 1 included 143 pregnancies with high clinical suspicion for a genetic disease: pregnancies with increased nuchal translucency, ultrasound structural defects, intrauterine growth restriction, polyhydramnios, or effusion/nuchal edema. Group 2 included 210 pregnancies with no notable abnormal fetal ultrasound findings. 2a. Low risk pregnancies with minor ultrasound findings, referred to the geneticist due to mildly increased risk for genetic disease (50); and 2b. Normal pregnancy surveillance (160). RESULTS: Overall, 26 (7.36%) fetal analyses had pathogenic (P)/likely pathogenic (LP) variants. In group 1, 20/143 (13.99%) cases had P/LP variants. In group 2, 6/210 (2.86%) cases were found to have P/LP variants [5/50 in (2a) and 1/160 in (2b)]. CONCLUSION: These results show a high rate of abnormal findings on pES even in apparently normal pregnancies.


Subject(s)
Exome , Nuchal Translucency Measurement , Female , Fetus/abnormalities , Fetus/diagnostic imaging , Humans , Nuchal Translucency Measurement/methods , Pregnancy , Pregnancy Trimester, First , Prenatal Diagnosis/methods , Ultrasonography, Prenatal
7.
Pediatr Emerg Care ; 38(2): e488-e492, 2022 Feb 01.
Article in English | MEDLINE | ID: mdl-34009892

ABSTRACT

OBJECTIVES: Skeletal surveys are necessary in the evaluation for physical abuse in children less than 2 years old, but when to obtain a skeletal survey in older children is less clear. METHODS: A retrospective study of patients older than 2 years who underwent skeletal survey over a 3-year period after implementation of an electronic health record physical abuse order set was conducted. Data were analyzed using descriptive statistics and compared with data from a cohort before order set implementation. The radiation dose of a skeletal survey in a 5-year old was calculated using a previously published technique. RESULTS: There were 325 skeletal surveys, a marked increase in the rate of skeletal surveys compared with before order set implementation. Less than 2% (6/325) of skeletal surveys demonstrated an occult fracture. Of the 6 patients with occult fractures, 4 were physically abused; in each case, the diagnosis of abuse was evident before the skeletal survey. The other 2 patients fell from windows. The radiation exposure was 0.34 mSv. CONCLUSIONS: The rate of occult fractures on skeletal survey is significantly lower than previously reported. This is likely because our population included all children who underwent skeletal survey and not the subset referred to a child abuse pediatrician. In addition, our data demonstrate that in children older than 2 years, skeletal surveys are unlikely to assist in making a diagnosis of physical abuse. The radiation exposure in a 5-year-old is 70% greater than in an infant, but still a dose, which represents a negligible health risk.


Subject(s)
Child Abuse , Fractures, Closed , Child , Child Abuse/diagnosis , Child, Preschool , Fractures, Closed/diagnostic imaging , Fractures, Closed/epidemiology , Humans , Infant , Physical Abuse , Radiography , Retrospective Studies
8.
Pediatr Emerg Care ; 38(2): e468-e471, 2022 Feb 01.
Article in English | MEDLINE | ID: mdl-34009893

ABSTRACT

OBJECTIVE: The aim of this study was to compare the demographic characteristics, clinical presentations, medical evaluation, and injuries identified in a cohort of children with and without subconjunctival hemorrhage who were evaluated by a child abuse specialist. METHODS: This was a case-control study that used data from the ExSTRA (Examining Siblings to Recognize Abuse) research network. Subjects with a subconjunctival hemorrhage(s) were designated as cases. Four controls matched for age and participating center were included for each case. Descriptive statistics were used to compare cases and controls. RESULTS: Fifty of the 2890 subjects in the parent study had a subconjunctival hemorrhage(s) and were designated as cases. The cases had a median (interquartile range) age of 5.0 months (2.0-23.6 months). Two hundred controls were matched to the cases. There was no difference in the demographics, clinical characteristics, medical evaluation, or rate of occult injuries identified in cases and controls. Almost one-quarter of children with subconjunctival hemorrhages had no other external sign of trauma but had the same rate of occult injuries as children with bruises. CONCLUSIONS: These data suggest that subconjunctival hemorrhages are relatively rare among children undergoing evaluation by a child abuse specialist, but that they are often an indicator of occult injury. Even in the absence of other external signs of trauma, the presence of subconjunctival hemorrhages should prompt an age-appropriate evaluation for physical abuse.


Subject(s)
Child Abuse , Physical Abuse , Case-Control Studies , Child , Child Abuse/diagnosis , Child, Preschool , Cohort Studies , Hemorrhage , Humans , Infant
9.
Pediatr Emerg Care ; 37(1): e1-e6, 2021 Jan 01.
Article in English | MEDLINE | ID: mdl-29461428

ABSTRACT

OBJECTIVES: The aim of this study was to evaluate cervical magnetic resonance imaging (MRI) and computed tomography (CT) practices and cervical spine injuries among young children with non-motor vehicle crash (MVC)-associated traumatic brain injury (TBI). METHODS: We performed a retrospective study of a stratified, systematic random sample of 328 children younger than 2 years with non-MVC-associated TBI at 4 urban children's hospitals from 2008 to 2012. We defined TBI etiology as accidental, indeterminate, or abuse. We reported the proportion, by etiology, who underwent cervical MRI or CT, and had cervical abnormalities identified. RESULTS: Of children with non-MVC-associated TBI, 39.4% had abusive head trauma (AHT), 52.2% had accidental TBI, and in 8.4% the etiology was indeterminate. Advanced cervical imaging (CT and/or MRI) was obtained in 19.1% of all children with TBI, with 9.3% undergoing MRI and 11.7% undergoing CT. Cervical MRI or CT was performed in 30.9% of children with AHT, in 11.7% of accidental TBI, and in 10.7% of indeterminate-cause TBI. Among children imaged by MRI or CT, abnormal cervical findings were found in 22.1%, including 31.3% of children with AHT, 7.1% of children with accidental TBI, and 0% of children with indeterminate-cause TBI. Children with more severe head injuries who underwent cervical imaging were more likely to have cervical injuries. CONCLUSIONS: Abusive head trauma victims appear to be at increased risk of cervical injuries. Prospective studies are needed to define the risk of cervical injury in children with TBI concerning for AHT and to inform development of imaging guidelines.


Subject(s)
Brain Injuries, Traumatic , Cervical Vertebrae/injuries , Craniocerebral Trauma , Accidents , Brain Injuries, Traumatic/diagnostic imaging , Cervical Vertebrae/diagnostic imaging , Child Abuse , Craniocerebral Trauma/diagnostic imaging , Female , Humans , Infant , Male , Prospective Studies , Retrospective Studies
10.
Nurs Ethics ; 28(5): 687-703, 2021 Aug.
Article in English | MEDLINE | ID: mdl-33509022

ABSTRACT

BACKGROUND: Moral distress is a significant concern for nurses as it can lead to burnout and intentions to leave the profession. Pediatric nurses encounter stressful and ethically challenging situations when they care for suspected victims of child maltreatment. Data on pediatric nurses' moral distress are limited, as most research in this field has been done in adult inpatient and intensive care units. AIM: The purpose of this study was to describe pediatric nurses' moral distress and evaluate the impact of caring for suspected victims of child maltreatment on nurses' moral distress, burnout, and intention to leave. Design and method: This descriptive cross-sectional correlational study was conducted in a mid-Atlantic, urban area Magnet pediatric level I trauma center that cares for over 1800 cases of suspected child maltreatment annually. An anonymous electronic survey was sent to all the nurses working at the hospital. ETHICAL CONSIDERATIONS: Institutional Review Board approval was received from the first author's university and the hospital where the study was conducted. FINDINGS: Overall, nurses (N = 146) reported low levels of moral distress with a mean score of 59.54 (SD = 49.22) and a range of 0-300 on the Moral Distress Scale Neonatal-Pediatric version. Although the frequency of caring for suspected child maltreatment victims did not affect nurses' moral distress, caring for victims with fatal maltreatment contributed to nurses' intention to leave, χ2 (1) = 5.35, p = 0.02. CONCLUSION: The results of this study add to the understanding of moral distress in pediatric nursing. Caring for victims with fatal maltreatment impacts pediatric nurses' intention to leave.


Subject(s)
Burnout, Professional , Nurses, Pediatric , Adult , Child , Cross-Sectional Studies , Humans , Infant, Newborn , Morals , Surveys and Questionnaires
11.
J Pediatr ; 227: 176-183.e3, 2020 12.
Article in English | MEDLINE | ID: mdl-32531314

ABSTRACT

OBJECTIVES: To evaluate the cost-effectiveness of abusive head trauma detection strategies in emergency department settings with and without rapid magnetic resonance imaging (rMRI) availability. STUDY DESIGN: A Markov decision model estimated outcomes in well-appearing infants with high-risk chief complaints. In an emergency department without rMRI, we considered 3 strategies: clinical judgment, universal head computed tomography (CT) scan, or the Pittsburgh Infant Brain Injury Score (PIBIS) with a CT scan. In an emergency department with rMRI for brain availability, we considered additional strategies: universal rMRI, universal rMRI with a CT scan, PIBIS with rMRI, and PIBIS with rMRI followed by a CT scan. Correct diagnosis eliminated future risk; missed abusive head trauma led to reinjury risk with associated poor outcomes. Cohorts were followed for 1 year from a healthcare perspective. One-way and probabilistic sensitivity analyses were performed. The main outcomes evaluated in this study were abusive head trauma correctly identified and incremental cost per quality-adjusted life-year. RESULTS: Without rMRI availability, PIBIS followed by a CT scan was the most cost-effective strategy. Results were sensitive to variation of CT scan-induced cancer parameters and abusive head trauma prevalence. When rMRI was available, universal rMRI followed by a confirmatory CT scan cost $25 791 to gain 1 additional quality-adjusted life-year compared with PIBIS followed by rMRI with a confirmatory CT scan. In both models, clinical judgement was less effective than alternative strategies. CONCLUSIONS: By applying CT scans to a more targeted population, PIBIS decreases radiation exposure and is more effective for the identification of abusive head trauma compared with clinical judgment. When rMRI is available, universal rMRI with a CT scan is more effective than PIBIS and is economically favorable.


Subject(s)
Child Abuse/diagnosis , Cost-Benefit Analysis , Craniocerebral Trauma/diagnosis , Child Abuse/statistics & numerical data , Craniocerebral Trauma/epidemiology , Emergency Service, Hospital , Humans , Infant , Models, Theoretical , Risk Assessment
12.
J Pediatr ; 223: 148-155.e2, 2020 08.
Article in English | MEDLINE | ID: mdl-32532650

ABSTRACT

OBJECTIVES: To evaluate the incidence of anemia in patients with abusive head trauma (AHT), noninflicted traumatic brain injury (TBI), and physical abuse without AHT and the effect of anemia on outcome. STUDY DESIGN: In a retrospective, single-center cohort study, we included children under the age of 3 years diagnosed with either AHT (n = 75), noninflicted TBI (n = 77), or physical abuse without AHT (n = 60) between January 1, 2014, and December 31, 2016. Neuroimaging was prospectively analyzed by pediatric neuroradiologists. Primary outcome was anemia at hospital presentation. Secondary outcomes included unfavorable outcome at hospital discharge, defined as a Glasgow Outcome Scale between 1 and 3, and intracranial hemorrhage (ICH) volume. RESULTS: Patients with AHT had a higher rate of anemia on presentation (47.3%) vs noninflicted TBI (15.6%) and physical abuse without AHT (10%) (P < .001). Patients with AHT had larger ICH volumes (33.3 mL [10.1-76.4 mL] vs 1.5 mL [0.6-5.2 mL] ; P < .001) and greater ICH/total brain volume percentages than patients with noninflicted TBI (4.6% [1.4-8.2 %] vs 0.2% [0.1-0.7%]; P < .001). Anemia was associated with AHT (OR, 4.7; 95% CI, 2.2-10.2) and larger ICH/total brain volume percentage (OR, 1.1; 95% CI, 1.1-1.2) in univariate analysis. Unfavorable outcome at hospital discharge was associated with anemia (OR, 4.4; 95% CI, 1.6-12.6) in univariate analysis, but not after controlling for covariates. CONCLUSIONS: Patients with AHT were more likely to present to the hospital with anemia and increased traumatic ICH volume than patients with noninflicted TBI or physical abuse without AHT. Children with anemia and AHT may be at increased risk for an unfavorable outcome.


Subject(s)
Anemia/epidemiology , Craniocerebral Trauma/complications , Intracranial Hemorrhages/complications , Physical Abuse , Risk Assessment/methods , Craniocerebral Trauma/diagnosis , Female , Humans , Incidence , Infant , Intracranial Hemorrhages/diagnosis , Male , Pennsylvania/epidemiology , Retrospective Studies , Risk Factors
13.
Chem Senses ; 45(1): 3-13, 2020 01 01.
Article in English | MEDLINE | ID: mdl-31562506

ABSTRACT

Adult-born neurons produced in the dentate gyrus subgranular zone (SGZ) develop as excitatory hippocampal granule cells (GCs), while those from the subventricular zone (SVZ) migrate to the olfactory bulb (OB), where most develop as GABAergic olfactory GCs. Both types of neurons express TrkB as they mature. Normally ~50% of new olfactory GCs survive, but survival declines if sensory drive is reduced. Increases in endogenous brain-derived neurotrophic factor (BDNF) in hippocampus, particularly with wheel running, enhance dentate GC survival. Whether survival of new olfactory GCs is impacted by augmenting BDNF in the OB, where they mature and integrate, is not known. Here, we determined if increasing OB BDNF expression enhances survival of new GCs, and if it counters their loss under conditions of reduced sensory activity. Neurogenesis was assessed under normal conditions, and following unilateral naris occlusion, in mice overexpressing BDNF in the granule cell layer (GCL). OB BDNF levels were significantly higher in transgenic mice compared to controls, and this was maintained following sensory deprivation. Bromodeoxyuridine (BrdU) cell birth dating showed that at 12-14 days post-BrdU, numbers of new GCs did not differ between genotypes, indicating normal recruitment to the OB. At later intervals, transgenic and control mice showed levels of GC loss in deprived and nondeprived animals that were indistinguishable, as was the incidence of apoptotic cells in the GCL. These results demonstrate that, in contrast to new dentate GCs, elevations in endogenous BDNF do not enhance survival of adult-born olfactory GCs.


Subject(s)
Brain-Derived Neurotrophic Factor/genetics , Hippocampus/metabolism , Animals , Cell Survival , Hippocampus/cytology , Mice , Mice, Inbred C57BL , Mice, Transgenic , Neurons/cytology , Neurons/metabolism
14.
Breast J ; 26(4): 697-701, 2020 04.
Article in English | MEDLINE | ID: mdl-31429159

ABSTRACT

Fibromatosis of the breast is a rare condition that can be locally aggressive. The mainstay of treatment remains wide local excision, with varied adjuvant therapy as needed. The authors describe their experience in the treatment of a series of patients and propose the classification of primary and secondary breast fibromatosis. A single-institution retrospective analysis of patients treated for breast fibromatosis from 2003 to 2017 was completed. Demographic data, pertinent past medical history, and treatment modalities were reviewed. Primary breast fibromatosis was defined as arising in the absence of previous surgery or radiation therapy to the ipsilateral breast. Secondary breast fibromatosis was defined as arising in the setting of previous surgery or radiation therapy to the ipsilateral breast. A total of 16 patients were included with the median age 40 (28-64) years. The average size of the lesion was 6.37 cm (range of 1.5-15 cm). Mean follow-up time was 65 months. Surgical excision was completed in 14 patients, with two recurrences. There were no recurrences in patients with surgical margins >1 cm. Two patients were treated nonsurgically. There were seven patients with primary fibromatosis of the breast and nine patients with secondary fibromatosis of the breast. Fibromatosis of the breast is difficult to diagnose prior to surgical excision. We advocate for the multi-disciplinary treatment of this disease process with an aggressive surgical approach to achieve margins >1 cm.


Subject(s)
Breast Neoplasms , Fibroma , Fibromatosis, Aggressive , Adult , Breast Neoplasms/surgery , Female , Fibroma/diagnostic imaging , Fibroma/surgery , Humans , Neoplasm Recurrence, Local , Retrospective Studies
15.
Pediatr Radiol ; 50(1): 75-82, 2020 01.
Article in English | MEDLINE | ID: mdl-31901990

ABSTRACT

BACKGROUND: Head computed tomography (CT) is the current standard of care for evaluating infants at high risk of abusive head trauma. OBJECTIVE: To both assess the feasibility of using a previously developed magnetic resonance imaging (MRI) brain injury screen (MRBRscreen) in the acute care setting in place of head CT to identify intracranial hemorrhage in high-risk infants and to compare the accuracy of a rapid imaging pulse sequence (single-shot T2 fast spin echo [ssT2FSE]) to a conventional pulse sequence (conventional T2 fast spin echo [conT2FSE]). MATERIALS AND METHODS: This was a quality improvement initiative to evaluate infants <12 months of age who were screened for intracranial hemorrhage using an MRBRscreen as part of clinical care. The MRBRscreen included axial conT2FSE, axial gradient recalled echo, coronal T1-weighted inversion recovery, axial diffusion-weighted image and an axial ssT2FSE. A comparison of ssT2FSE to conT2FSE with respect to lesion detection was also performed. RESULTS: Of 158 subjects, the MRBRscreen was able to be completed in 155 (98%); 9% (14/155) were abnormal. Ninety-four percent (137/145) of subjects underwent only an MRBRscreen and avoided both radiation from head CT and sedation from MRI. The axial ssT2FSE and conT2FSE results were congruent 99% of the time. CONCLUSION: An MRBRscreen in place of a head CT is feasible and potentially could decrease head CT use by more than 90% in this population. Using a rapid ssT2FSE in place of a conT2FSE can reduce total scan time without losing lesion detection. If an MRBRscreen is readily available, physicians' threshold to perform neuroimaging may be lowered and lead to earlier detection of abusive head trauma.


Subject(s)
Brain Injuries/diagnostic imaging , Child Abuse/diagnosis , Craniocerebral Trauma/diagnostic imaging , Magnetic Resonance Imaging/methods , Brain/diagnostic imaging , Feasibility Studies , Female , Humans , Infant , Male , Prospective Studies , Reproducibility of Results , Retrospective Studies , Risk , Sensitivity and Specificity
16.
J Pediatr ; 212: 180-187.e1, 2019 09.
Article in English | MEDLINE | ID: mdl-31255388

ABSTRACT

OBJECTIVE: To compare caregiver features and caregiving arrangements of children with physical abuse vs accidental injuries. STUDY DESIGN: Data came from a prospective, observational, multicenter study investigating bruising and psychosocial characteristics of children younger than 4 years of age. Using logistic regression, we examined how abuse vs accidental injury and severity of injury were associated with caregiver sex, relation to the child, whether caregiving arrangements were different than usual at the time of injury, and length of the main caregiver's relationship with his/her partner. RESULTS: Of 1615 patients, 24% were determined to have been physically abused. Abuse was more likely when a male caregiver was present (OR 3.31, 95% CI 2.38-4.62). When the male was the boyfriend of the mother (or another female caregiver), the odds of abuse were very high (OR 169.2, 95% CI 61.3-614.0). Severe or fatal injuries also were more likely when a male caregiver was present. In contrast, abuse was substantially less likely when a female caregiver was present (OR 0.25, 95% CI 0.17-0.37) with the exception of a female babysitter (OR 3.87, 95% CI 2.15-7.01). Caregiving arrangements that were different than usual and caregiver relationships <1 year were also associated with an increased risk of abuse. CONCLUSIONS: We identified caregiver features associated with physical abuse. In clinical practice, questions regarding caregiver features may improve recognition of the abused child. This information may also inform future abuse prevention strategies.


Subject(s)
Accidental Injuries/epidemiology , Caregivers , Child Abuse/statistics & numerical data , Child Care , Caregivers/standards , Child Care/standards , Child, Preschool , Female , Humans , Infant , Male , Prospective Studies
17.
Curr Opin Pediatr ; 31(1): 61-68, 2019 02.
Article in English | MEDLINE | ID: mdl-30531225

ABSTRACT

PURPOSE OF REVIEW: Provide a comprehensive overview of lumbar spondylolysis, a frequent cause of lower back pain in children and adolescents, from evaluation to management. RECENT FINDINGS: With the surge of structured sports participation in the pediatric population, spondylolysis is a common ailment that afflicts many young athletes due to rigorous competition that taxes the growing spine with repetitive extension and rotation. SUMMARY: Spondylolysis is a fracture through the pars interarticularis. When a child presents with lower back pain, spondylolysis should be at the top of the differential. A thorough history and physical examination are essential. In addition, radiographs of the lumbar spine, anterior posterior and lateral views, MRI and, selectively, computed tomography are useful adjuncts to uncover a pars injury. Timely diagnosis facilitates early treatment which includes rest, optimizing bone health, brace treatment, and physical therapy. If delayed or untreated, spondylolysis may result in nonunion or pars defect. If symptomatic, patients may need surgery to fuse the lumbar facet joints or repair the par interarticularis.


Subject(s)
Lumbar Vertebrae , Spondylolysis/diagnosis , Spondylolysis/therapy , Adolescent , Child , Humans , Low Back Pain/etiology , Spondylolysis/complications
18.
Technol Cult ; 60(4): 1004-1026, 2019.
Article in English | MEDLINE | ID: mdl-31761791

ABSTRACT

This article explores genealogies of food, taste, nutrition and questions of governance through attempts to regulate the production and sale of vanaspati ghee in interwar India. It explores the "ghee wars" of 1927-29, when Punjab Province pushed to regulate the production of ghee alternatives so as to ensure the quality of the products on offer and regulate the trade in mass-produced food commodities. The possibility of a regulatory system brought to the fore a series of questions about the role of the Raj and the power of provincial legislatures as interwar structures of governance in India took hold: what was the responsibility of the provincial government to its citizens? Could taste and desire be gauged in rational terms? Could authenticity and fraudulence be measured? Finally, could food be governed? This article uses these questions to examine the unusual debates about clarified butter, its forgeries, and the context of interwar citizenship.

20.
J Pediatr ; 198: 144-150.e4, 2018 07.
Article in English | MEDLINE | ID: mdl-29550228

ABSTRACT

OBJECTIVE: To assess interrater reliability and accuracy of an expert panel in classifying injuries of patients as abusive or accidental based on comprehensive case information. STUDY DESIGN: Data came from a prospective, observational, multicenter study investigating bruising characteristics of children younger than 4 years. We enrolled 2166 patients with broad ranges of illnesses and injuries presenting to one of 5 pediatric emergency departments in whom bruises were identified during examination. We collected comprehensive data regarding current and past injuries and illnesses, and provided deidentified, standardized case information to a 9-member multidisciplinary panel of experts with extensive experience in pediatric injury. Each panelist classified cases using a 5-level ordinal scale ranging from definite abuse to definite accident. Panelists also assessed whether report to child protective services (CPS) was warranted. We calculated reliability coefficients for likelihood of abuse and decision to report to CPS. RESULTS: The interrater reliability of the panelists was high. The Kendall coefficient (95% CI) for the likelihood of abuse was 0.89 (0.87, 0.91) and the kappa coefficient for the decision to report to CPS was 0.91 (0.87, 0.94). Reliability of pairs and subgroups of panelists were similarly high. A panel composite classification was nearly perfectly accurate in a subset of cases having definitive, corroborated injury status. CONCLUSIONS: A panel of experts with different backgrounds but common expertise in pediatric injury is a reliable and accurate criterion standard for classifying pediatric injuries as abusive or accidental in a sample of children presenting to a pediatric emergency department.


Subject(s)
Accidents , Child Abuse/classification , Child Abuse/diagnosis , Wounds and Injuries/classification , Wounds and Injuries/etiology , Child, Preschool , Emergency Service, Hospital , Female , Humans , Infant , Male , Prospective Studies , Reproducibility of Results , Wounds and Injuries/diagnosis
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