Infantile-onset pompe disease: a case report emphasizing the role of genetic counseling and prenatal testing.

BACKGROUND: Pompe disease, classified as glycogen storage disease type II, arises from a deficiency in the acid alpha-glucosidase (GAA) enzyme, leading to glycogen accumulation in multiple tissues. The unique correlation between genotype and enzyme activity is a key feature. This case highlights an infantile-onset form, emphasizing genetic counseling and prenatal testing importance. CASE PRESENTATION: An 18-week-old infant with respiratory distress, cyanosis, and fever was admitted. Born healthy, her sibling died from Pompe disease. She presented with cardiomegaly, hypotonia, and absent reflexes. Diagnosis was confirmed by significantly reduced GAA activity. Despite treatment initiation, the patient succumbed to cardiac arrest. CONCLUSIONS: The case underscores genetic counseling's role, offering insights into prenatal testing advancements, antenatal diagnosis through echocardiography, and the significance of early intervention, particularly in infantile-onset Pompe disease. SYNOPSIS: Genetic risk assessment and prenatal testing are crucial for families with a history of Pompe disease to improve early diagnosis and management outcomes.

Spontaneous duodenal perforation as a complication of kawasaki disease.

Kawasaki disease is generally known as a systemic vasculitis that often concerns doctors due to its serious cardiac complications; however, other visceral organs may get involved as well. Surgical manifestations of the intestinal tract in Kawasaki disease are rare. In this report, we describe the case of a 2.5-year-old boy with typical Kawasaki disease who presented with GI bleeding and surgical abdomen. The diagnosis of duodenal perforation was confirmed.

Ultrasound guided lumbar puncture in emergency department: Time saving and less complications.

BACKGROUND: Lumbar puncture (LP) is an essential procedure in the diagnosis and treatment of several critical situations. This procedure is routinely performed by palpating external landmarks to find the most appropriate inter-spinous space. In the current study, we compared surface landmark and ultrasound (US) guided LP in different aspects. MATERIALS AND METHODS: This clinical trial study was conducted at the emergency department (ED) of a teaching hospital from March 2009 to March 2010. Eighty patients were allocated randomly in two equal groups. In first group, LP was performed by US-guided method and in the control group by palpation of external landmarks of spinal column. Pain score, number of attempts for successful dural penetration, numbers of traumatic LP, and procedure time were compared between two groups. The performance of US-guided LP was assessed with regard to body mass index (BMI) of patients too. RESULTS: The mean of procedure time and pain scores were markedly higher in land mark group in comparison to US group (6.4 ± 1.2 and 7.4 ± 1.1 vs. 3.3 ± 1.2 and 4.4 ± 1.4 respectively). Number of attempts and number of traumatic LPs were significantly lower in US group too. In patients with different subgroups of BMI, US-guided LP showed better results and less complication when compared with surface landmark guided technique. All of these results were statistically significant. CONCLUSION: This study showed that US was able to find pertinent landmarks to facilitate the LP in patients admitted to ED and resulted in less pain and less time wasting. Moreover, patients who have high BMI may benefit more than others.

Alterations in Circulating Adhesion Molecules in Acute Myocardial Infarction before and after Thrombolysis with Streptokinase.

INTRODUCTION: The role of adhesion molecules in the development and progression of coronary atherosclerosis is inevitable. It is not clear yet whether these molecules increase or decrease in level after thrombolytic therapy. This study was designed to compare concentrations of soluble forms of adhesion molecules in patients with acute myocardial infarction before and after reperfusion by thrombolysis with streptokinase (SK). METHODS: In this study, in 40 patients with acute myocardial infarction who were admitted in our Emergency Department undergoing thrombolysis with SK, plasma concentrations of six adhesion molecules [soluble L-selectin, P-selectin, E-selectin, intercellular adhesion molecule-1 (ICAM-1), vascular cell adhesion molecule-1 (VCAM-1) and platelet endothelial cell adhesion molecule-1 (PECAM-1)] were measured by enzyme linked immunosorbent assay (ELISA), before and 3 hours after intervention. RESULTS: While soluble E-selectin and PECAM-1 concentrations did not differ within the 3 hours after interventions (P> 0.05), the level of P-selectin, L-selectin, ICAM-1, VCAM-1 were significantly reduced after thrombolysis with SK (P< 0.05). CONCLUSION: Adhesion molecules which mediate the interactions in leukocyte endothelium vary in levels after reperfusion with SK. It was shown that 4 out of 6 adhesion molecules significantly reduced after thrombolysis with SK.

Prinzmetal's Angina in a Pregnant Woman: a Case Report.

Acute myocardial infarction (MI) during pregnancy is rare and MI due to Prinzmetal's angina is much rarer. We present a 35-year-old, obese, multigravida, and pre-eclamptic woman, who developed acute anterior wall MI at the 30th week of gestation. On coronary angiography, the second obtuse marginal branch was totally occluded and the right coronary artery (RCA) was normal. Three days later, she had chest pain and ST elevation in the inferior leads. On second angiography, there was narrowing in the RCA, while the obtuse marginal branch was patent. We presume that this discrepancy between the first and second electrocardiograms and angiographic findings was due to Prinzmetal's angina.

What are Patients' Concerns about Medical Errors in an Emergency Department?

OBJECTIVES: Concerns about medical errors have recently increased. An understanding of how patients conceptualise medical error would help health care providers to allay safety concerns and increase patient satisfaction. The aim of this study was to evaluate patients' worries about medical errors and their relationship with patient characteristics and satisfaction. METHODS: This descriptive cross-sectional study was done in the Emergency Department (ED) of a university hospital over a one week period in October 2008. A questionnaire was used to assess patients' worries about medical errors and their satisfaction levels both at an initial interview and by telephone 7 days after discharge. Data were gathered and analysed by χ2, t-tests and logistic regression. RESULTS: Of 638 patients interviewed, 61.6% declared their satisfaction rate as good to excellent; (93 [14.6%] as poor; 152 [23.8%] as fair; 296 [46.4%] as good; 97 [15.2%] as excellent). A total of 48.3% of patients (44.5-52%, with confidence interval 95%) were concerned about the occurrence of at least one medical error. There was a clear relationship between the general satisfaction rate and having at least one concern about a medical error (Chi-square, P <0.001). CONCLUSION: This study showed that many patients were concerned about medical errors during their emergency care. Due to the stressful situation in EDs, patients' safety and satisfaction could be improved by a better understanding of patient concerns, education of ED staff and an improvement in the patient-doctor relationship.

Effect of sweet almond oil on survival rate and plasma cholinesterase activity of aluminum phosphide-intoxicated rats.

INTRODUCTION: Aluminum phosphide (ALP), as an effective pesticide and a substance used for protecting rice during storage, has become one of the commonest causes of poisoning and even suicide in developing countries including Iran and India. The authors aimed to study the efficacy of sweet almond oil as an antidote in ALP toxicity. METHODS: The present experimental study was conducted over 35 rats. The animals were divided into four groups: one group as the control group and three other groups which received ALP alone or ALP and sweet almond oil with different time intervals. In addition to estimating the survival rate of the animals, plasma cholinesterase activity as a possible factor affected in ALP poisoning was evaluated. RESULTS: Treatment by intragastric irrigation of sweet almond oil resulted in significant reduction of mortality. Moreover, mean plasma cholinesterase levels were inhibited in groups receiving ALP. CONCLUSION: Oral sweet almond oil, if especially used immediately after poisoning with ALP, improves the survival rate.

How do Iranian emergency doctors decide? Clinical decision making processes in practice.

INTRODUCTION: Emergency doctors must make decisions for many patients in a limited time. Various emergency cases are not compatible with routine conditions as described in textbooks, so doctors use clinical decision making (CDM) processes to act in the best possible way. In the present work, these processes and some of the related factors were assessed. METHODS: Decisions made by doctors were studied via patient medical records, doctors' notes and interviews with decision-making doctors from the Emergency Department of Rasul-Akram Hospital, Tehran, Iran. All doctors were unaware of this research, and they had previously studied CDM processes as part of their training curriculum. A total of 10 day and 10 night shifts (240 h) between 1 March 2010 and 30 May 2010 were considered for the study. RESULTS: Rule-based, event-driven, knowledge-based and skill-based decisions, respectively, were the most frequent processes used by doctors in 726 first visits. It was also found that 7% of decisions were not made on a known CDM basis, that all of them were for non-urgent and 'standard' patients, and that most patients who were non-urgent were referred to first-year postgraduates. Skill-based decisions were not applied in very urgent cases; 107 out of 726 decisions on first visits had shifted to knowledge-based process by the time of final treatment decisions. For final treatment decisions, rule-based and knowledge-based processes were more frequently used than other CDM processes. CONCLUSIONS: The rule-based process is the most common CDM process used by emergency doctors, perhaps because of the minimisation of human error in this process. CDM choice may be influenced by triage level, treatment room and doctors' educational levels. Revealing and studying these factors may help shift decisions to the best possible decision making levels, defining a model in future research.

Effects of hyperbaric oxygenation on survival time of aluminum phosphide intoxicated rats.

BACKGROUND: Aluminium phosphide (AlP) is used as a fumigant. It produces phosphine gas which is a mitochondrial poison. Although this poisoning has been repeatedly reported in literature with a high mortality rate, there is no known antidote for AlP intoxication. In the present study, we studied the effects of hyperbaric oxygenation (HBO) on the survival time of AlP intoxicated rats. METHODS: Intoxicated rats with AlP (11.5 mg/kg, oral gavage) were placed in hyperbaric oxygenation with different concentrations of compressed air and oxygen. RESULTS: All the animals exposed to AlP died within 5 days. The mean survival times of rats exposed to AlP without any intervention, treated with hyperbaric condition by compressed air, and treated with hyperbaric condition by pure O2 were 91 ± 1, 262 ± 8, and 276 ± 6 minutes, respectively. In analysis of survival times, there was a significant difference between Group 2 which received AlP and the groups which underwent intervention (Groups 2 and 3, p < 0.001; Groups 2 and 4, p < 0.001). CONCLUSIONS: Hyperbaric oxygenation may probably improve the survival time of the intoxicated rats with aluminium phosphide, but it may not decrease the mortality rate.

Efficacy and safety of naloxone in the management of postseizure complaints of tramadol intoxicated patients: a self-controlled study.

BACKGROUND AND AIMS: Tramadol has become a major cause of drug-induced seizure recently. Naloxone is reported to attenuate the seizurogenic activity of tramadol. Thus, the authors aimed to study the efficacy and safety of naloxone in the management of postseizure complaints. METHODS: This self-controlled study was conducted from August 2006 to August 2008. 59 tramadol intoxicated patients who did have postseizure complaints entered the study. After initial resuscitation and work-up, they received intravenous naloxone 0.05 mg every 3-5 min, and the presence of symptoms, presence of abnormal waves in cerebral state monitor (CSM), cerebral state index (CSI) and optical density (OD) were assessed. RESULTS: 47 participants completed the study, of whom 43 (91%) had symptom resolution after the intervention, and the presence of symptoms was significantly different before and after the intervention (p<0.001). 47 patients had abnormal waves in the CSM before the intervention, while 15 had abnormal waves in the CSM after intervention (p<0.001). The baseline mean of CSI was 81 (SD: 5.17), which was significantly increased to 92 (SD: 2.35) after naloxone injection (p<0.001). The baseline mean of OD was 7.1 (SD: 0.23), which was significantly increased to 7.7 (SD: 0.29) after naloxone injection (p<0.001). CONCLUSION: Naloxone can be considered in the management of postseizure complaints of tramadol toxicity, but further rigorous studies are needed to provide sufficient evidence to support its routine use.

Severe metabolic acidosis secondary to coadministration of creatine and metformin, a case report.

It is known from studies in young athletes that creatine supplements have beneficial effects on muscular functional capacity, so it is being widely used as a performance-enhancing substance in both professional and amateur sports men and women. They are approved and considered relatively safe, but there have been a few case reports of renal dysfunction associated with their use. We present the case of a patient who developed acute renal failure and lactic acidosis while using creatine and metformin simultaneously.

Prediction of intracranial computed tomography findings in patients with minor head injury by using logistic regression.

OBJECT: The aim of this study was to develop a decision rule for physicians in developing countries to identify patients with minor head injury who will benefit from emergency brain CT scanning. METHODS: Three hundred eighteen patients with a history of blunt head trauma and a Glasgow Coma Scale (GCS) score >or= 13 who had presented within 12 hours of trauma underwent nonenhanced brain CT and were included in this prospective study. Computed tomography findings that necessitated neurosurgical care (either observation or intervention) were considered as positive findings. Logistic regression was used to develop the decision rule. RESULTS: Computed tomography scans were always normal in patients < 65 years old who did not have an obvious head wound, a raccoon sign, vomiting, memory deficit, or a decrease in their GCS score. Patients with 1 major criterion (GCS score < 14, raccoon sign, failure to remember the impact, age > 65 years, or vomiting) or 2 minor criteria (wound at the scalp or GCS score < 15) had an abnormal CT scan in 13% of the cases. CONCLUSIONS: The decision rule developed by the authors appears to be 100% sensitive and 46% specific for positive findings on brain CT and will, in developing countries, help clarify the decision to obtain scans.

Near-infrared laser spectroscopy as a screening tool for detecting hematoma in patients with head trauma.

INTRODUCTION: Among imaging techniques, computed tomography (CT) is a reliable method for detecting intracranial hematomas in patients with head trauma, but it is not generally available in special circumstances like prehospital situations and harsh conditions such as those following an earthquake. OBJECTIVE: The objective of this study is to determine if near-infrared spectroscopy (NIRS) is useful for performing CT scans on patients with closed head trauma that present to medical centers that do not have the ability to perform a CT scan or in prehospital or harsh situations. Near-infrared spectroscopy and CT scan were compared according to sensitivity and specificity. METHODS: This was an observational, prospective study. One hundred forty-eight patients admitted to Rasool Akram General Hospital in Tehran, Iran with head injuries during a one-month period were studied using NIRS and CT. The observational, prospective study was conducted and sensitivity, specificity, positive and negative predictive values of NIRS were calculated. Chi-square and Kappa analysis was performed, and a p-value <0.05 was considered significant. RESULTS: According to the CT scan findings, 54 (36.5%) of the patients developed intracranial hematoma. The NIRS examination showed that 69 patients (46.6%) might have intracranial hematoma. The number of true negatives was 73 and the number of false negatives was six patients. The sensitivity and specificity of NIRS examination was 88.9% and 77.7%, respectively. CONCLUSIONS: This study speculates that NIRS may be a useful screening tool to detect intracranial hematoma. This capability could be useful in special situations like in a deprived area, medical centers without CT scan capabilities, prehospital situations, and in harsh conditions like those after an earthquake or other disasters that causes increased numbers of victims with closed head trauma.

Orbito-cerebral penetrating knife-wound.

An orbit-cerebral knife wound is described. Reasons for variation in outcome art discussed.