Atypical idiopathic intracranial hypertension presenting as cyclic vomiting syndrome: a case report.

BACKGROUND: Idiopathic intracranial hypertension is a disorder of increased intracranial pressure in the absence of cerebrospinal outflow obstruction, mass lesion, or other underlying cause. It is a rare phenomenon in prepubertal children and is most typically found in women of childbearing age. The classic presentation consists of headaches, nausea, vomiting, and visual changes; however, children present more atypically. We report a case of idiopathic intracranial hypertension in an otherwise healthy, 4-year-old child with atypical symptoms resembling those of cyclic vomiting syndrome. CASE PRESENTATION: A 4-year-old Caucasian, otherwise healthy, male child presented to our emergency department with episodic intermittent early-morning vomiting occurring once every 1-3 weeks without interepisodic symptoms, starting 10 months prior. With outpatient metabolic, autoimmune, endocrine, allergy, and gastroenterology work-up all unremarkable, he was initially diagnosed with cyclic vomiting syndrome. Discovery of mild optic nerve sheath distension on magnetic resonance imaging of the brain 10 months after symptom onset led to inpatient admission and a lumbar puncture notable for an opening pressure of 47 mmHg, with normal cell count and protein levels. He had no changes in visual acuity or optic disc edema on dilated fundoscopic examination. The patient was started on acetazolamide, with resolution of episodic emesis at his last follow-up visit 12 weeks after discharge. CONCLUSIONS: Idiopathic intracranial hypertension presents atypically in prepubescent children, with about one-fourth presenting asymptomatically, and only 13-52% presenting with "classic" symptoms. With a prevalence of only 0.6-0.7 per 100,000, much remains unknown regarding the underlying pathophysiology in this demographic. Cyclic vomiting syndrome, however, has a much higher prevalence in this age group, with a prevalence of 0.4-1.9 per 100. It is thought to be an idiopathic, periodic disorder of childhood, often linked to neurological conditions such as abdominal migraines, epilepsy, mitochondrial disorders, and structural lesions such as chiari malformation and posterior fossa tumors. While cyclic vomiting syndrome is thought to have a benign course, untreated idiopathic intracranial hypertension can have long-term detrimental effects, such as visual loss or even blindness. We present a case of idiopathic intracranial hypertension presenting with symptoms resembling cyclic vomiting syndrome in a 4-year-old child, diagnosed 10 months after initial onset of symptoms. We aim to demonstrate the need for a high level of clinical suspicion and the need for further investigation into underlying pathophysiology in this vulnerable population.

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.

GEMIN5, an RNA-binding protein is essential for assembly of the survival motor neuron (SMN) protein complex and facilitates the formation of small nuclear ribonucleoproteins (snRNPs), the building blocks of spliceosomes. Here, we have identified 30 affected individuals from 22 unrelated families presenting with developmental delay, hypotonia, and cerebellar ataxia harboring biallelic variants in the GEMIN5 gene. Mutations in GEMIN5 perturb the subcellular distribution, stability, and expression of GEMIN5 protein and its interacting partners in patient iPSC-derived neurons, suggesting a potential loss-of-function mechanism. GEMIN5 mutations result in disruption of snRNP complex assembly formation in patient iPSC neurons. Furthermore, knock down of rigor mortis, the fly homolog of human GEMIN5, leads to developmental defects, motor dysfunction, and a reduced lifespan. Interestingly, we observed that GEMIN5 variants disrupt a distinct set of transcripts and pathways as compared to SMA patient neurons, suggesting different molecular pathomechanisms. These findings collectively provide evidence that pathogenic variants in GEMIN5 perturb physiological functions and result in a neurodevelopmental delay and ataxia syndrome.

Post-Trial Sustainability and Scalability of the Benefits of a Medical Home for High-Risk Children with Medical Complexity.

OBJECTIVE: To assess the sustainability of the benefits relative to usual care of a medical home providing comprehensive care for high-risk children with medical complexity (≥2 hospitalizations or ≥1 pediatric intensive care unit [PICU] admission in the year before enrollment) after we made comprehensive care our standard practice and expanded the program. STUDY DESIGN: We conducted pre-post comparisons of the rate of children with serious illness (death, PICU admission, or >7-day hospitalization) and health-system costs observed after program expansion (March 2014-June 2015) to those during the clinical trial (March 2011-August 2013) for each of the trial's treatment groups (usual care, n = 96, and comprehensive care, n = 105; primary analyses), and among all children given comprehensive care (nPost-trial = 233, including trial usual care children who transitioned to comprehensive care post-trial and newly enrolled medically complex children, and nTrial = 105; secondary analyses). We also analyzed the findings for the trial patients as a 2-phase stepped-wedge study. RESULTS: In intent-to-treat analyses, rates of children with serious illness and costs were reduced or unchanged post-trial vs trial for the trial's usual care group (rate ratio [RR], 0.36; 95% CI, 0.20-0.64; cost ratio [CR], 0.68; 95% CI, 0.28-1.68), the trial's comprehensive care group (RR, 0.74; 95% CI, 0.39-1.41; CR, 0.67; 95% CI, 0.51-0.89), and among all children given comprehensive care (RR, 0.97; 95% CI, 0.61-1.52; CR, 0.75; 95% CI, 0.61-0.93). Conservative stepped-wedge analyses identified overall benefits with comprehensive care across both study periods (RR, 0.46; 95% CI, 0.30-0.72; CR, 0.64; 95% CI, 0.43-0.99). CONCLUSIONS: Major benefits of comprehensive care did not diminish with post-trial program expansion.

Difference in central and peripheral recovery in a patient with severe axonal motor neuropathy and central nervous system involvement and review of literature.

In the literature, the term fulminant Guillain-Barré syndrome is used to refer to patients with Guillain-Barré syndrome with rapidly progressive and severe weakness and/or comatose state mimicking brain death. We present the case of a 53-year-old man with fulminant Guillain-Barré syndrome with discrepancy in central nervous system and peripheral nervous system recovery. Our review of literature confirms that these patients often have good and relatively rapid recovery of central nervous system function, whereas peripheral nervous system function is relatively delayed and often incomplete.

Out-of-hospital cervical spine clearance: agreement between emergency medical technicians and emergency physicians.

OBJECTIVE: Determine the level of agreement between emergency medical technicians (EMTs) and emergency physicians (EPs) when applying an existing emergency medical services/fire department protocol for out-of-hospital clinical cervical spine injury (CSI) clearance in blunt trauma patients. METHODS: Prospective observational study of consecutive blunt trauma patients transported by emergency medical services/fire department during a 3-month study period. The setting was an urban Level I trauma center. Measurement of interrater agreement (kappa) was determined. RESULTS: Mean age of the 190 patients was 34+/-19 years (range, 6 -98 years). Fifty-nine percent of the patients were male. One hundred forty-six patients (77%) were immobilized by EMTs; 17 of these patients were clinically cleared by EPs. Forty-four patients (23%) were clinically cleared by EMTs and presented without CSI precautions; of these, 61% (27 of 44) were immobilized by EPs and 57% (25 of 44) had cervical spine radiographs obtained. Overall, 141 patients (74%) required radiographic clearance. CSI were detected in five patients (2.6%); all five were immobilized in the out-of-hospital setting. Overall disagreement between EMTs and EPs regarding out-of-hospital CSI clearance occurred in 44 patients (23%) (kappa=0.29; 95% confidence interval, 0.15-0.43; p < 0.01). CONCLUSION: Significant disagreement in clinical CSI clearance exists between EMTs and EPs. Further research and education is recommended before widespread implementation of this practice.

Stress levels in EMS personnel: a national survey.

OBJECTIVE: The purpose of this study was to evaluate stress levels in emergency medical services personnel across the United States. DESIGN: Confidential, 20-question survey tool, Medical Personnel Stress Survey--Abbreviated (MPSS-R). A total score of 50 indicates average stress levels. A score of 12.5 on the subset measurements of somatic distress, job dissatisfaction, organizational stress, and negative attitudes towards patients indicates average levels of stress. Data were analyzed using ANOVA and t-test. INTERVENTIONS: None. RESULTS: A total of 658 of 3,000 emergency medical technicians (EMTs) (22%) completed the survey. The mean value of 69.3 +/- 6.3 for the total stress scores was very high. Mean values for the subset scores were: somatic distress = 19.6 +/- 3.3; organizational stress = 17.3 +/- 2.4; job dissatisfaction = 17.0 +/- 2.6; negative attitudes towards patients = 15.5 +/- 2.3. Characteristics predicting higher stress were EMT-basic (A) licensure, basic life support (BLS) only service provider, volunteer status, new employee working in a small EMS organization, and providing service to a small town. CONCLUSION: Stress levels in EMS personnel were very high, were manifested primarily as somatic distress, secondarily as organizational stress and job dissatisfaction, and lastly as negative patient attitudes. Stress levels and subset manifestations of occupational stress among EMS personnel varied depending on gender, marital status, age, level of training and function, on salaried or volunteer status, length of time as an EMT, and size of the organization, city, and population served. Care should be taken to address stresses peculiar to individual EMS system needs.

Performance of a system to determine EMS dispatch priorities.

Inappropriate use of emergency medical services (EMS) for nonemergencies strains EMS resources and limits efficiency. Protocol-driven dispatch systems attempt to correct the imbalance that exists between demand and available resources by prioritizing 911 calls. This study compared dispatch priority decisions with apparent patient need, based on emergency department (ED) presentation, by matching 320 ED charts with corresponding EMS dispatch and run information. The priorities assigned by the system based on dispatch information were compared with those assigned by a three-member panel of physicians based on ED presentation. The physicians and dispatchers agreed on the need for advanced life support (ALS) versus basic life support (BLS) transport 74% of the time. There was only 43% agreement on the more detailed 4-level classification system. The system assigned the highest level of dispatch utilizing combined ALS and first responders to a significantly greater degree than did the physicians. It was concluded that protocol systems for setting dispatch priorities utilize EMS resources to a higher degree than actually required based on ED presentation.

Stress levels in EMS personnel: a longitudinal study with work-schedule modification.

OBJECTIVE: To determine if stress levels of emergency medical services (EMS) personnel can be reduced by adjusting work schedules to personnel preferences. METHODS: A prospective, longitudinal, cohort study with a work-schedule modification intervention was performed. All EMS personnel employed by the City of Cleveland EMS were eligible for participation. EMS employees voluntarily completed an abbreviated medical personnel stress survey (MPSS-R), a 20- question validated stress-assessment tool, in September 1989, February 1991, and September 1991. A new scheduling pattern was introduced March 1991. At that time, 27 EMS employees volunteered to work the new schedule (12 hours/ shift: 3 days on/2 days off/2 days on/3 days off). The remaining 109 EMS employees remained on the old schedule (8 hours/shift: 6 days on/2 days off). RESULTS: Mean MPSS-R stress scores increased significantly from September 1990 (61.9 +/- 7.87) to September 1991 (65.08 +/- 7.23) (p < 0.05). In September 1991, mean stress scores of EMS personnel working the new schedule (64.39 +/- 7.82) were not significantly lower than stress scores of EMS personnel working the old schedule (65.25 +/- 7.10). CONCLUSION: Stress in EMS personnel increased despite a new schedule pattern designed to accommodate the preferences of EMS personnel.

Comparative performance of the Baxt Trauma Triage Rule.

New methods of deciding which patients require trauma center transport continue to be devised. Baxt recently published a Trauma Triage Rule (TTR) using anatomic injury, blood pressure, and elements of the Glascow Coma scale which can be used to identify adult major trauma patients. The purpose of this study was to compare the TTR against three previously published trauma triage instruments; the Triage-Revised Trauma Score, the Prehospital Index, and the CRAMS scale. We applied these rules to a data base of trauma patients transported by the Cleveland, Ohio Emergency Medical Services System. All four instruments identified adult trauma patients who either died or required emergent operations with sensitivities of at least .85. The specificity of the TTR exceeded that of the CRAMS. We conclude that the TTR is an effective means of identifying patients who either die or require emergent operation.

Prehospital pulse oximetry: useful or misused?

STUDY OBJECTIVE: This study evaluated the ability of emergency medical technicians (EMT-As) and emergency medical technicians-paramedics (EMT-Ps) to use pulse oximetry measurements in determining patient oxygen requirements. DESIGN: Prospective case series. SETTING: Cleveland emergency medical services (EMS) system. TYPE OF PARTICIPANTS: Five hundred thirty-two consecutive patients transported to Cleveland area hospitals by the Cleveland EMS system; no exclusions. INTERVENTIONS: EMT-Ps and EMT-As predicted patients' supplemental oxygen requirements based on clinical assessment. Pulse oximetry was performed while patients were breathing room air (RA SpO2). Treatment intervention, including oxygen supplementation and medication given, oxygen saturation after intervention, and oxygen saturation on arrival at the hospital, was also recorded. Therapy guided by the patient's initial RA SpO2 was reviewed to determine the appropriateness of oxygen therapy. RESULTS: Data were analyzed using the chi 2 test and correlation analysis. Eleven percent (59) of patients transported by Cleveland EMS had an initial RA SpO2 of less than 91%. Advanced life support units increased oxygen supplementation on all desaturated patients, whereas basic life support units failed to make appropriate increases in FIO2 in 20% (two) of desaturated patients (P less than .0001). Sixty percent (164) of patients transported by EMT-Ps and 62% (162) of patients transported by EMT-As had an initial RA SpO2 of 97% or greater. EMT-Ps gave supplemental oxygen therapy to all but 7% (11) of these already well-saturated patients, and EMT-As gave supplemental oxygen to all but 6% (nine) of these patients. EMT-Ps administered a higher FIO2 than they had predicted clinically necessary to 2% (four) of patients with an initial RA SpO2 of 97% of greater, whereas EMT-As gave a higher FIO2 than initially predicted to 16% (25) of such patients (P less than .0001). CONCLUSION: EMT-Ps were more likely to appropriately base oxygen therapy on oximetry measurements than were EMT-As. Both groups failed to decrease supplemental oxygen in patients with high explicit protocols for EMS systems contemplating the use of oximetry to guide oxygen therapy. Our results further suggest that pulse oximetry could be used to avoid unnecessary oxygen therapy on a significant number of patients transported by EMS systems because they are already well saturated on room air.

A comparison of EMT judgment and prehospital trauma triage instruments.

A number of instruments have been devised to aid in the triage of trauma patients. Little work, however, has been done to demonstrate that these triage instruments offer an advantage over the judgment of an emergency medical technician (EMT) in determining which patients require transportation to a trauma center. The purpose of this study was to compare EMT judgment against three scoring systems; the triage-revised Trauma Score, the Prehospital Index, and the CRAMS scale. Data were gathered on trauma victims transported by the City of Cleveland EMS system. The EMTs rated the patient's overall severity on a 4-point scale and estimated the probability of patient mortality. We found that the EMT prediction of mortality was as accurate as the various scores. In a subset of patients, we also found that the EMT assessment performed as well as the scoring systems in identifying patients who either died or required emergent operative intervention. We conclude that EMT judgment is as accurate as these three scoring systems in identifying patients at high risk for death or the need for immediate operative intervention.

A controlled trial of nebulized isoetharine in the prehospital treatment of acute asthma.

Acute asthma is a potentially life-threatening disorder, recognizable to the prehospital care provider. While therapies are available to the prehospital care provider for treating acute asthma, no previous controlled studies have been performed demonstrating the treatment in the field is efficacious and safe. The authors conducted a controlled trial of the prehospital use of nebulized isoetharine in an urban emergency medical services system. Fifty-two patients with acute asthma were studied. Patients were initially evaluated with a peak flow meter. Half of the patients received isoetharine, while the control group received basic life support only. There was no difference in baseline values. Peak expiratory flow increased from 138 L/min to 148 L/min in the control group, while it increased from 149 L/min to 218 L/min in the treatment group (P less than .001). The authors conclude that paramedic treatment of acute asthma with nebulized isoetharine is effective in improving pulmonary function and clinical status during transport.

Field dependency: cognitive style or perceptual skill?

This study was designed to determine which information-processing elements are embodied in the Group Embedded Figures Tests as well as other representative measures of cognitive style. An alpha factoring method indicated the presence of two major factors. It was concluded that field-dependency primarily represents individual variation in perceptual preference patterns rather than the traditionally defined behavioral styles.

The modal personality of urban black middle-class elementary school children.

This study attemped to identify traits that might be described as "typical" of black elementary school children. With use of the Early School Personality Questionnaire, the mean and modal scores for 13 traits were determined for 59 girls and 61 boys selected from two urban areas in two sections of the country. All were children of black middle-class families and were six and eight years old. When compared to the expected scores for children of this age range, the group as a whole differed from the average expected scores on only four factors. Analysis of the traits by sex found that black middle-class boys differed from the standardization sample boys on four of the 13 factors, and girls on eight of the 13. It was concluded that black middle-class girls, although not very different from the boys, were quite different in personality from girls of other groups, while the boys differed very little. The black sample was significantly more aloof and shrewd than the standardization group. It might be that these are traits developed by parents in black middle-class children to help them cope with a color-discriminating environment.