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Global developmental delay and intellectual disability are relatively common pediatric conditions. This report describes the recommended clinical genetics diagnostic approach. The report is based on a review of published reports, most consisting of medium to large case series of diagnostic tests used, and the proportion of those that led to a diagnosis in such patients. Chromosome microarray is designated as a first-line test and replaces the standard karyotype and fluorescent in situ hybridization subtelomere tests for the child with intellectual disability of unknown etiology...

No abstract text is available yet for this article.

No abstract text is available yet for this article.

After completing this article, readers should be able to: 1. Characterize the epidemiology of herpes simplex virus (HSV) infection, including mode of transmission, incubation period, and period of communicability. 2. Recognize the difference in clinical manifestations of HSV1 and HSV2 infection. 3. Diagnose various manifestations of HSV infection. 4. Describe the difference in the clinical manifestations and outcome of HSV infection in newborns and older infants and children. 5. Discuss the management of HSV infection...

On the basis of strong research evidence, asthma is a leading cause of emergency department visits and hospital admissions for children. On the basis of research evidence, implementation of asthma guidelines by medical professionals in not optimal. On the basis of research evidence, the Asthma Predictive Index supports a diagnosis of chronic asthma in children younger than 3 years. On the basis of strong research evidence, premedication with a short-acting β2-agonist is the preferred initial therapy for exercise-induced asthma...

BACKGROUND AND OBJECTIVE: Computed tomography (CT) is still used for neuroimaging of infants with known or suspected neurologic disorders. Alternative neuroimaging options that do not expose the immature brain to radiation include MRI and cranial ultrasound. We aim to characterize and compare the use and findings of neuroimaging modalities, especially CT, in infants with neonatal encephalopathy. METHODS: The Vermont Oxford Network Neonatal Encephalopathy Registry enrolled 4171 infants (≥36 weeks' gestation or treated with therapeutic hypothermia) between 2006 and 2010 who were diagnosed with encephalopathy in the first 3 days of life...

BACKGROUND AND OBJECTIVE: Children with community-acquired lower respiratory tract infection (CA-LRTI) commonly receive antibiotics for Mycoplasma pneumoniae. The objective was to evaluate the effect of treating M. pneumoniae in children with CA-LRTI. METHODS: PubMed, Cochrane Central Register of Controlled Trials, and bibliography review. A search was conducted by using Medical Subject Headings terms related to CA-LRTI and M. pneumoniae and was not restricted by language...

No abstract text is available yet for this article.

Remodelling is a response of the myocardium and vasculature to a range of potentially noxious haemodynamic, metabolic, and inflammatory stimuli. Remodelling is initially functional, compensatory, and adaptive but, when sustained, progresses to structural changes that become self-perpetuating and pathogenic. Remodelling involves responses not only of the cardiomyocytes, endothelium, and vascular smooth muscle cells, but also of interstitial cells and matrix. In this Review we characterise the remodelling processes in atherosclerosis, vascular and myocardial ischaemia-reperfusion injury, and heart failure, and we draw attention to potential avenues for innovative therapeutic approaches, including conditioning and metabolic strategies...

Many emergency departments have implemented sepsis protocols since the 2001 publication of results from the early goal-directed therapy trial, which showed early targeted resuscitation lowers mortality. As part of an attempt to improve clinical and operational outcomes for emergency departments across British Columbia, we reviewed sepsis management literature and considered sepsis protocol implementation in the province’s emergency departments. During the literature review we found that many observational studies confirmed an association between implementation of emergency sepsis protocols and decreased mortality...

Children with immunocompromising conditions represent a unique group for the acquisition of antimicrobial resistant infections due to their frequent encounters with the health care system, need for empiric antimicrobials, and immune dysfunction. These infections are further complicated in that there is a relative paucity of literature on the clinical features and management of Staphylococcus aureus infections in immunocompromised children. The available literature on the clinical features, antimicrobial susceptibility, and management of S...

PURPOSE: Our study tried to find a relationship between baseline FEF25-75% and airway hyperresponsiveness (AHR) and whether a greater FEF25-75% impairment may be a marker of a more severe hyperresponsiveness in subjects with normal FEV1 and FEV1/FVC and suggestive asthma symptoms. Besides, we tried to asses a FEF25-75% cut-off value to identify hyper-reactive subjects. METHODS: 4,172 subjects (2,042 M; mean age: 38.3±14.9; mean FEV1 % predicted: 100.5±12.7 and FEV1/FVC: 85...

The United Kingdom Prospective Diabetes Study, and Diabetes Control and Complications Trial have shown that aggressive glucose control, especially early in the natural history of the disease, might result in a significant reduction of microvascular as well as macrovascular complications. However, more recent trials have increased the level of complexity of the relationship between 'tight glucose control/chronic complications', with several factors influencing the risk-to-benefit ratio to be considered, such as age, presence of established complications and diabetes duration...

IMPORTANCE: Glaucoma is a worldwide leading cause of irreversible vision loss. Because it may be asymptomatic until a relatively late stage, diagnosis is frequently delayed. A general understanding of the disease pathophysiology, diagnosis, and treatment may assist primary care physicians in referring high-risk patients for comprehensive ophthalmologic examination and in more actively participating in the care of patients affected by this condition. OBJECTIVE: To describe current evidence regarding the pathophysiology and treatment of open-angle glaucoma and angle-closure glaucoma...

Although a diagnosis of acute myocardial infarction (AMI) that mandates emergency reperfusion therapy requires ST-segment elevation greater than 1 mm in at least 2 contiguous leads, some of the early electrocardiogram (ECG) changes of AMI can be subtle. Any ST-segment depression or T-wave inversion in lead aVL may be implicated in left anterior descending artery lesion or early reciprocal changes of inferior wall myocardial infarction, particularly when the clinical context suggests ischemia. Early recognition of reciprocal changes and serial ECG help initiate early appropriate intervention...

Cirrhosis is an increasing cause of morbidity and mortality in more developed countries, being the 14th most common cause of death worldwide but fourth in central Europe. Increasingly, cirrhosis has been seen to be not a single disease entity, but one that can be subclassified into distinct clinical prognostic stages, with 1-year mortality ranging from 1% to 57% depending on the stage. We review the current understanding of cirrhosis as a dynamic process and outline current therapeutic options for prevention and treatment of complications of cirrhosis, on the basis of the subclassification in clinical stages...

Recent advances in medical knowledge and technology have markedly improved the survival rates of very low birth weight infants. Optimizing the neuro-developmental outcomes of these survivors has become an important priority in neonatal care, which includes appropriate management for achieving fluid and electrolyte balance. This review focuses on the principles of providing maintenance fluid to these infants, including careful assessment to avoid excessive fluid administration that may increase the risk of such neonatal morbidities as necrotizing enterocolitis, patent ductus arteriosus, and bronchopulmonary dysplasia (BPD)...

Hepatorenal syndrome (HRS) is defined as the occurrence of renal dysfunction in a patient with end-stage liver cirrhosis in the absence of another identifiable cause of renal failure. The prognosis of HRS remains poor, with a median survival without liver transplantation of <6 months. However, understanding the pathogenesis of HRS has led to the introduction of treatments designed to increase renal perfusion and mean arterial blood pressure using vasopressors and albumin, which has led to improvement in renal function in ∼50% of patients...

Skin and soft-tissue infections (SSTIs) are a common presenting problem in both inpatients and outpatients. SSTIs have been broadly classified as complicated or uncomplicated, but specific disease processes and patient characteristics are important in guiding clinical management. Early recognition of the extent of infection, close follow-up, and familiarity with local antibiotic susceptibility data are critical to successful treatment.

Chronic diarrhea, defined as a decrease in stool consistency for more than four weeks, is a common but challenging clinical scenario. It can be divided into three basic categories: watery, fatty (malabsorption), and inflammatory. Watery diarrhea may be subdivided into osmotic, secretory, and functional types. Watery diarrhea includes irritable bowel syndrome, which is the most common cause of functional diarrhea. Another example of watery diarrhea is microscopic colitis, which is a secretory diarrhea affecting older persons...