The value of fasting in the diagnosis of medium-chain acyl-CoA dehydrogenase deficiency / O valor do jejum no diagnóstico da deficiência de acil-CoA desidrogenase de cadeia média

ABSTRACT Female patient carrier of medium-chain acyl-CoA dehydrogenase deficiency (MCADD) with recurrent clinical episodes of hypoglycemia and altered level of consciousness, presented changes in blood acylcarnitine profile by tandem mass spectrometry and in the urinary organic acid analysis by gas chromatography/mass spectrometry (GC/MS). This case demonstrates the importance of fasting prior biological sample collection (when possible) when MCADD is suspected, and emphasizes that the time/momentum of biological sample collection is crucial to diagnosis, considering the possibility that MCADD is underdiagnosed in Brazil.

RESUMEN Paciente portadora de deficiencia de acil-CoA deshidrogenasa de cadena media (MCADD) con episodios clínicos recurrentes de hipoglucemia y alteración de consciencia presentó mudanzas en el perfil de acilcarnitinas en la sangre con técnicas de espectrometría de masas en tándem y en el análisis de ácidos orgánicos urinarios mediante cromatografía de gases acoplada a espectrometría de masas. Este caso demuestra la importancia de la toma de muestras biológicas en ayunas (se posible) cuando se sospecha de MCADD y destaca que el tiempo/momento de extracción de la muestra biológica es valioso para el diagnóstico, considerando la posibilidad de que la MCADD es subdiagnosticada en Brasil.

RESUMO Paciente portadora de deficiência de acil-CoA desidrogenase de cadeia média (MCADD), com episódios clínicos recorrentes de hipoglicemia e alteração de consciência, apresentou alterações no perfil de acilcarnitinas em sangue por espectrometria de massas em tandem e na análise de ácidos orgânicos urinários por cromatografia gasosa acoplada à espectrometria de massa. Este caso demonstra a importância da coleta de amostra biológica em jejum (se possível) quando há suspeita de MCADD e ressalta que o tempo/momento de coleta da amostra biológica é importante para o diagnóstico, considerando a possibilidade de a MCADD ser subdiagnosticada no Brasil.

Assessing the Risks Associated with MRI in Patients with a Pacemaker or Defibrillator.

BACKGROUND: The presence of a cardiovascular implantable electronic device has long been a contraindication for the performance of magnetic resonance imaging (MRI). We established a prospective registry to determine the risks associated with MRI at a magnetic field strength of 1.5 tesla for patients who had a pacemaker or implantable cardioverter-defibrillator (ICD) that was "non-MRI-conditional" (i.e., not approved by the Food and Drug Administration for MRI scanning). METHODS: Patients in the registry were referred for clinically indicated nonthoracic MRI at a field strength of 1.5 tesla. Devices were interrogated before and after MRI with the use of a standardized protocol and were appropriately reprogrammed before the scanning. The primary end points were death, generator or lead failure, induced arrhythmia, loss of capture, or electrical reset during the scanning. The secondary end points were changes in device settings. RESULTS: MRI was performed in 1000 cases in which patients had a pacemaker and in 500 cases in which patients had an ICD. No deaths, lead failures, losses of capture, or ventricular arrhythmias occurred during MRI. One ICD generator could not be interrogated after MRI and required immediate replacement; the device had not been appropriately programmed per protocol before the MRI. We observed six cases of self-terminating atrial fibrillation or flutter and six cases of partial electrical reset. Changes in lead impedance, pacing threshold, battery voltage, and P-wave and R-wave amplitude exceeded prespecified thresholds in a small number of cases. Repeat MRI was not associated with an increase in adverse events. CONCLUSIONS: In this study, device or lead failure did not occur in any patient with a non-MRI-conditional pacemaker or ICD who underwent clinically indicated nonthoracic MRI at 1.5 tesla, was appropriately screened, and had the device reprogrammed in accordance with the prespecified protocol. (Funded by St. Jude Medical and others; MagnaSafe ClinicalTrials.gov number, NCT00907361 .).

A randomized controlled trial of angiography versus intravascular ultrasound-directed bare-metal coronary stent placement (the AVID Trial).

BACKGROUND: AVID (Angiography Versus Intravascular ultrasound-Directed stent placement) is a multicenter, randomized controlled trial designed to assess the effect of intravascular ultrasound (IVUS)-directed stent placement on the 12-month rate of target lesion revascularization (TLR). METHODS AND RESULTS: After elective coronary stent placement and an optimal angiographic result (<10% stenosis), 800 patients were randomized to Angiography- or IVUS-directed therapy. Blinded IVUS was performed in the Angiography group without further therapy. In the IVUS group, IVUS criteria for optimal stent placement (<10% area stenosis, apposition, and absence of dissection) were applied. Final minimum stent area was 6.90+/-2.43 mm(2) in the Angiography group and 7.55+/-2.82 mm(2) in the IVUS group (P=0.001). In the IVUS group, only 37% with inadequate expansion (<90%) received further therapy. The 12-month TLR rate was 12.0% in the Angiography group and 8.1% in the IVUS group (P=0.08, 95% confidence level [CI], [-8.3% to 0.5%]). When vessels with a distal reference diameter <2.5 mm by core laboratory angiography measurement were excluded from analysis, the 12-month TLR rate was 10.1% in the Angiography group and 4.3% in the IVUS group (P=0.01, 95% CI, [-10.6% to -1.2%]). With a pre-stent angiographic stenosis of > or =70%, the TLR rate was lower in the IVUS group compared with the Angiography group (3.1% versus 14.2%; P=0.002; 95% CI, [-18.4% to -4.2%]). CONCLUSIONS: IVUS-directed bare-metal stent placement results in larger acute stent dimensions without an increase in complications and a significantly lower 12-month TLR rate for vessels > or =2.5 mm by angiography and for vessels with high-grade pre-stent stenosis. However, for the entire sample analyzed on an intention-to-treat basis, IVUS-directed bare-metal stent placement does not significantly reduce the 12-month TLR rate when compared with stent placement guided by angiography alone. In addition, IVUS evaluation of adequate stent expansion is underutilized by experienced operators.

Coronary artery overexpansion increases neointimal hyperplasia after stent placement in a porcine model.

OBJECTIVE: To determine if an aggressive approach to coronary revascularisation with oversized balloons is counterproductive, we studied the effect of increasing balloon-to-artery (B:A) ratio on neointimal hyperplasia following primary stent placement using a non-atherosclerotic porcine coronary overstretch model. METHODS: 60 vessels in 33 Yorkshire swine were randomly assigned to one of five B:A ratios between 1.0:1 and 1.4:1. Intravascular ultrasound (IVUS) imaging was performed before bare-metal stent placement to accurately determine vessel size, after stent placement, and at 28 days. RESULTS: The mean prestent vessel diameter was 3.05 (0.31) (SD) mm. In-stent neointimal volume, in-stent volume stenosis and cross-sectional area stenosis at the stent minimum lumen diameter increased significantly with increasing achieved B:A ratio (multilevel regression test for slope, p<0.001, p = 0.002 and p<0.001, respectively) and were independent of vessel size. Even minor vessel overstretch at an achieved B:A ratio of 1.1:1 resulted in significant neointimal hyperplasia. Larger B:A ratios were also associated with more neointima beyond the stent edges (p = 0.008). For vessels from the same animal, neointimal response at a given B:A ratio was dependent upon the animal treated. CONCLUSIONS: In a porcine model of IVUS-guided coronary primary stent placement, vessel overexpansion is counterproductive. Neointimal hyperplasia at 28 days is strongly associated with increasing B:A ratio. In addition, vessels do not respond independently of each other when multiple stents are placed within the same animal using a range of B:A ratios.

Child Protective Services referrals in cases of sudden infant death: a 10-year, population-based analysis in San Diego County, California.

The potential diagnostic significance of prior family referral to Child Protective Services (CPS) in cases of sudden infant death is unknown. Therefore, the authors retrospectively searched for CPS data for the 5-year referral history on all 533 families whose infants died suddenly from Sudden Infant Death Syndrome (SIDS), other natural diseases, accidents, or inflicted injuries and underwent postmortem examination by the medical examiner during a 10-year period. No family had more than one infant death. At least 27% of the families in each group had at least one CPS referral. The data suggest that a family's referral to CPS prior to their sudden death of their infant does not increase the likelihood that it was caused by inflicted injuries, and prior referral should not preclude a diagnosis of SIDS. The authors recommend future prospective studies that include refined exposure histories and that are large enough to have sufficient statistical power to compare family CPS referrals and outcomes in groups of infants who died suddenly with a matched group of living infants.

Pulmonary intra-alveolar siderophages in SIDS and suffocation: a San Diego SIDS/SUDC Research Project report.

Pulmonary intra-alveolar siderophages (PS) have been suggested as a marker of previous attempts at imposed suffocation in infants dying suddenly and unexpectedly. The aims of this study were to (1) compare PS counts between cases of sudden infant death syndrome (SIDS) and a control group comprised of infants whose deaths were attributed to accidental or inflicted suffocation, (2) compare clinical variables in SIDS and control suffocation cases, and (3) review individual cases irrespective of the cause and manner of death with an average PS count greater than 200 per 20 high-power fields (hpf) per lung lobe. Retrospective assessment of siderophages in available iron-stained lung sections was undertaken in 91 SIDS cases and 29 cases of death due to suffocation (27 accidents and 2 homicides) from the San Diego SIDS and Sudden Unexplained Death in Childhood (SUDC) Research Project (SDSSRP) database. Neither the means of the log-transformed PS counts nor the medians of the raw PS counts were significantly different between the SIDS and control suffocation groups. The distributions of the PS data were different, however-the range was wider in the SIDS group. Only 6% of each group had a history of prior apparent life-threatening events. Approximately three fourths of the families from both groups had no prior referral to Child Protective Services. The number of PS varies widely in cases of sudden infant death caused by SIDS and accidental or inflicted suffocation and cannot be used as an independent variable to ascertain past attempts at suffocation.

Improved documentation of wound care with a structured encounter form in the pediatric emergency department.

OBJECTIVE: Accurate and complete documentation may enhance reimbursement and compliance with financial intermediary regulations, protect against litigation, and improve patient care. We measured the effect of introduction of a structured encounter form on the completeness of documentation of pediatric wound management in a teaching hospital. METHODS: The Children's Hospital Emergency Department introduced a structured encounter form for use in the documentation of wound care in place of the existing free-text dictation method. Attending physicians and trainees, all unaware of the study, had the option of using the form in place of free-text dictation for patients with lacerations requiring closure. We abstracted 100 consecutive free-text dictations from patients treated before the form's introduction. Following a 3-month run-in period, we abstracted 100 consecutive structured wound records. We compared the 2 chart types for completeness of documentation based on 20 predetermined criteria relevant to pediatric wound care. RESULTS: Overall completeness of documentation improved with structured forms (80% vs 68% for free text, P < .001), with significant improvements in 6 of 20 individual criteria. Trainees demonstrated improvement in documentation with the structured form, with the greatest improvements among senior-level residents. Documentation of the general physical examination worsened with structured charting. DISCUSSION: In an academic pediatric emergency department, the use of a structured complaint-specific form improved overall completeness of wound-care documentation. Structured encounter forms may provide for more standardized documentation for a variety of pediatric chief complaints, thereby facilitating communication and ultimately transition to template-driven systems in anticipation of an electronic medical record.

Loss of consciousness: when to perform computed tomography?

OBJECTIVE: To determine the diagnostic value of physical examination (including neurologic exam) for positive computed tomography scan findings in children with closed head injury, Glasgow Coma Scale score 13-15 in the emergency department, and loss of consciousness or amnesia. DESIGN: Prospective descriptive study. SETTING: A large, tertiary, pediatric trauma center in San Diego County. PATIENTS: Children ages 2-16 with an isolated closed head injury, history of loss of consciousness or amnesia, and Glasgow Coma Scale 13-15 who were referred for pediatric trauma evaluation and received a head computed tomography as part of this evaluation. INTERVENTIONS: A standardized physical examination including skull/scalp exam, pupils, tympanic membrane, and brief neurologic exam was documented on each patient. MEASUREMENTS AND MAIN RESULTS: Subjects age 2-16 being evaluated by the pediatric trauma team for closed head injury with loss of consciousness or amnesia and Glasgow Coma Scale 13-15 received a standardized physical exam, noncontrast head computed tomography scan, and follow-up telephone call at 4-6 wks. Outcome variables include intracranial injury visualized on computed tomography scan and need for neurosurgical intervention. Ninety-eight subjects were enrolled in the study over a 1-yr period. Computed tomography scans revealed evidence of intracranial injury in 13 of 98 subjects (13%). Normal examination increased the probability of a normal computed tomography scan from.87 pretest to.90 posttest. Four of 38 subjects with normal examination were noted to have evidence of intracranial injury on computed tomography. These four subjects did not require neurosurgical intervention. Two of 98 subjects underwent neurosurgical procedures. One intracranial pressure monitor was placed for decreasing level of consciousness. One subject underwent surgical elevation of a depressed skull fracture. CONCLUSIONS: Detailed clinical examination is of no diagnostic value in detecting intracranial injuries found on head computed tomography scan. Patients with observed loss of consciousness or amnesia and Glasgow Coma Scale 13-15 should have a head computed tomography scan as part of their evaluation to avoid missing an intracranial injury.

The self-inflating bulb as an esophageal detector device in children weighing more than twenty kilograms: a comparison of two techniques.

STUDY OBJECTIVES: We confirm the ability of the self-inflating bulb to indicate endotracheal tube position in children and determine which method of bulb compression is more accurate. METHODS: This single-blind, prospective, single cohort, repeated measures comparison of the on-deflate and the off-deflate methods of bulb compression was conducted in the operating room of a children's hospital. Seventy-five patients weighing more than 20 kg were enrolled. All patients had an endotracheal tube placed in both the trachea and the esophagus, 5 mL/kg of air was insufflated into the stomach, and 4 measurements were obtained on each patient. The bulb was either applied to the endotracheal tube and then compressed (on-deflate method), or compressed before its attachment to the endotracheal tube (off-deflate method). The order in which the methods were utilized was determined by a computer-generated permuted block randomization scheme. The blinded assessor told the anesthesiologist when to start and stop the clock after each intervention. Five seconds was used as the cut-off time for which the clock was stopped. If the bulb reexpanded within 5 seconds, then the tube was considered to be in the trachea; if it did not reexpand, then this was considered to be an esophageal intubation. RESULTS: The mean patient age was 11 years. The on-deflate method had a sensitivity of 99% and a specificity of 92% for detecting tracheal intubations. The off-deflate method had a sensitivity of 99% and a specificity of 100% (95% confidence interval [CI] for the difference between methods: sensitivity -6 to 6, specificity -14 to 0.4). The inaccuracy rate for the off-deflate method was 1%, whereas the inaccuracy rate for the on-deflate method was 5% (Delta4; 95% CI 0.2 to 9). CONCLUSION: The self-inflating bulb is a reliable method of detecting endotracheal tube position in children. Furthermore, the off-deflate method may be more reliable and accurate than the on-deflate method when used in children weighing more than 20 kg.

A comparison of respiratory symptoms and inflammation in sudden infant death syndrome and in accidental or inflicted infant death.

Upper respiratory infection and pulmonary inflammation are common in sudden infant death syndrome, but their role in the cause of death remains controversial. Controlled studies comparing clinical upper respiratory infection and inflammation in sudden infant death syndrome with sudden infant deaths caused by accidents and inflicted injuries (controls) are unavailable. Our aim was to compare respiratory inflammation and upper respiratory infection within 48 hours of death and postmortem culture results in these two groups. A retrospective analysis of upper respiratory infection and pathologic variables in the trachea and lung of 155 infants dying of sudden infant death syndrome and 33 control infants was undertaken. Upper respiratory infection was present in 39% of sudden infant death syndrome cases and 40% of control cases. Upper respiratory infection was more likely to have occurred in association with more severe lymphocytic interstitial pneumonitis when sudden infant death syndrome cases and control cases were combined ( P=.04). Proximal and distal tracheal lymphocytic infiltration was more severe in control cases than in sudden infant death syndrome cases ( P=.01 and.01, respectively). Lymphocytic infiltrations of the bronchi, bronchioles, and pulmonary interstitium were similar between groups. Bronchial associated lymphoid tissue was more prominent in control cases ( P=.04). Cultures were positive in 80% of sudden infant death syndrome cases, 78% of which were polymicrobial. Among control cases, 89% were positive, with 94% being polymicrobial. This study confirms that microscopic inflammatory infiltrates in sudden infant death syndrome are not lethal.

Infanticide: is its incidence among postneonatal infant deaths increasing?: an 18-year population-based analysis in California.

The decline in the incidence of sudden infant death syndrome (SIDS) and recent recommendations regarding the differentiation of SIDS and child abuse has generated speculation that some cases of infanticide were misdiagnosed as SIDS. The aims of this study were to determine the change in incidences and proportions of postneonatal deaths from all causes, SIDS, and infanticide in California over an 18-year interval encompassing years before and after the Back to Sleep campaign. Selected postneonatal mortality data from 1981 through 1998 obtained from the California Department of Health Services were analyzed and graphically displayed. The total postneonatal mortality and incidence of SIDS deaths per 100,000 live births decreased 45% and 66%, respectively, during the study interval; the incidence of infanticide remained low. The ratio of infanticide to SIDS increased from 4.3 per 100 in 1981 to 10.2 per 100 in 1998. Infanticide deaths, as a percentage of the total number of postneonatal deaths, increased slightly from the first to the second half of the study interval but never rose above 3.2%. It is concluded that this increased percentage is due to a decrease in SIDS deaths and not to an actual increase in infanticide deaths.

Medial smooth muscle thickness in small pulmonary arteries in sudden infant death syndrome revisited.

Increased relative medial thickness (RMT) of smooth muscle in small pulmonary arteries, peripheral extension of smooth muscle into the alveolar wall arteries, and right ventricular hypertrophy (RVH), in response to purported prolonged hypoxia, have been reported in sudden infant death syndrome (SIDS). Prone sleep position, an important risk factor for SIDS, predisposes infants to hypoxia from airway obstruction or rebreathing. Since publication of the earlier pulmonary artery studies, the SIDS definition has been expanded, and sudden infant death investigational protocols have been implemented. Our aims in this study were to (1) compare RMT in preacinar arteries (PA), intra-acinar arteries accompanying small airways (SIA), and alveolar wall arteries (AW) in SIDS infants and controls; (2) correlate RMT with postmortem variables; (3) determine if peripheral extension occurred more often in SIDS infants than in controls; and (4) determine if RVH occurred in SIDS. Movat-stained sections from standardized tissue blocks taken prospectively from the apex of the right upper lobe from 88 SIDS cases and 17 controls were evaluated using a computer-assisted digitizing system with images obtained from a microscope with an attached video camera. When adjusted for age, the RMT values for the SIA arteries were significantly greater in controls, while the PA and AW arteries were not statistically different between the SIDS cases and controls. Peripheral medial smooth muscle extension did not differ between the groups, and RVH was not seen in SIDS cases. Given the recent identification of brain stem abnormalities interfering with protective cardiorespiratory responses against acute life-threatening hypoxia perhaps precipitated by prone sleeping, our data suggest that SIDS is an acute event not preceded by recurrent or prolonged apnea and hypoxia.