First Step In Diagnosis Research Articles

Usefulness of ambulatory blood pressure monitoring and head-up tilt test in the evaluation of paediatric syncope

The aim of this study was to investigate the usefulness of ambulatory blood pressure monitoring versus head-up tilt test in the evaluation of children with a history of syncope. We considered 146 consecutive children with more than one episode of syncope. All patients had a normal electrocardiogram at rest and were otherwise considered to be healthy. Forty-six patients,19 male, with a mean age of 13.6 plus or minus 5.6 years, were studied with a head-up tilt test and 100 patients, 41 male with a mean age of 9.4 plus or minus 5.6 years, were studied with ambulatory blood pressure monitoring. Twelve patients underwent both procedures. Hypotension during ambulatory blood pressure monitoring was defined when mean blood pressure values were lower than the 50th centile and the head-up tilt test was positive when syncope occurred. All patients were followed for 10 plus or minus 2 months. Ambulatory blood pressure monitoring showed postural hypotension in 91% children, while head-up tilt test was positive for 54%. In the group of children having both tests, two of them were negative for both, 10 of 12 children had a positive ambulatory blood pressure monitoring while only five of 10 children had a positive response to head-up tilt test. When a child with a normal resting electrocardiogram is referred with a typical history of syncope, the use of ambulatory blood pressure monitoring as a non-invasive first step for diagnosis of postural hypotension may be more sensitive than the head-up tilt test. Behavioural adjustments resolved the continued syncope in most cases. If episodes persist then the head-up tilt test is indicated.

790 Clinical and Laboratory Parameters of Neonatal Cholestasis: A Retrospective Study in Dr. Soetomo Hospital Surabaya

Background: Early diagnosis of neonatal cholestasis is important for proper management. Making the differential diagnosis of extrahepatic from intrahepatic cholestasis as the first step for diagnosis is also crucial for better prognosis. Objective: To find out differences of clinical and laboratory parameters of patients with intrahepatic and extrahepatic neonatal cholestasis. Method: A retrospective study in infants with neonatal cholestasis who admitted to department of pediatric dr. Soetomo Hospital since 1999 to 2009 was done. Clinical findings (age, gender, birth weight, jaundice, acholic, choluria, hepatomegaly) and laboratory findings (bilirubin, AST, ALT, ALP, GGT) were noted and analyzed with chi-square and independent t-test. Results: One hundred and nineteen infants with cholestasis were enrolled. Clinical parameters between intrahepatic and extrahepatic neonatal cholestasis included birth-weight (p=0.34), gender (p=0.33), acholic stool (p=0.07), choluria (p=0.29), first presentation of jaundice (p=0.47), and hepatomegaly (p=0.34) were not differed significantly. Laboratory parameters, AST (p=0.87), ALT (p=0.35), alkaline phosphatase (p=0.57), and Gamma-GT (p=0.08) were not differed significantly. Only Total bilirubin (p=0.001), direct bilirubin (p=0.004) were differed significantly, with higher level in extrahepatic neonatal cholestasis. Conclusion: Bilirubin level in intrahepatic and extrahepatic neonatal cholestasis were significantly different.

Movement Disorders II: Chorea, Dystonia, Myoclonus, and Tremor

1. Jonathan W. Mink, MD, PhD* 2. Samuel H. Zinner, MD† 1. *Professor of Neurology, Neurobiology & Anatomy, Brain & Cognitive Sciences, and Pediatrics; Chief, Child Neurology, University of Rochester School of Medicine and Dentistry and Golisano Children's Hospital at Strong, Rochester, NY. 2. †Associate Professor of Pediatrics, University of Washington School of Medicine and Seattle Children's Hospital, Seattle, Wash. After completing this article, readers should be able to: 1. Identify the important distinguishing features of chorea, dystonia, myoclonus, and tremor. 2. Recognize important causes of chorea, dystonia, myoclonus, and tremor. 3. Describe treatment approaches for chorea, dystonia, myoclonus, and tremor. 4. Discuss common drug-induced movement disorders and their treatments. In a previous article, (1) we considered the two most common movement disorders in children: tics and stereotypies. Although less common, chorea, dystonia, myoclonus, and tremor are not rare in children. Therefore, it is important for the pediatric clinician to be able to recognize and distinguish these movement disorders. The first step in diagnosis and treatment is to identify and classify the disorders. In this article, we review these and drug-induced movement disorders. Drug-induced movement disorders fall into the same phenomenologic categories (chorea, dystonia, myoclonus, and tremor) but often are considered as a separate entity because of their specific causes and treatments. ### Definitions Chorea is characterized by frequent, brief, unpredictable, purposeless movements that tend to flow from body part to body part chaotically and unpredictably. The movements are less sustained than those of dystonia but are more sustained and less “shocklike” than myoclonus. Low-amplitude chorea may cause an individual to appear fidgety. Large-amplitude chorea, sometimes termed “ballismus,” can occur as dramatic flinging limb movements. Choreic movements (ie, characterized by chorea) can be sudden and jerky or can be more continuous and flowing. In the latter case, the term choreoathetosis is used. The term “choreiform” often is used to describe the minimal twitching or “piano playing” movements seen in many otherwise healthy young children when their arms are extended during the neurologic examination. The difference …

Reluctant hydrocephalus

Reluctant hydrocephalus

Diagnóstico de doença celíaca em adultos

Celiac disease (CD) is found in genetically predisposed individuals, and characterized by an intolerance to ingestion of gluten, contained in cereals such as barley, rye, wheat and malt. Clinical manifestations of CD vary from asymptomatic patients to severe forms of malabsorption syndromes, which may involve multiple systems and increase the risk of some malignancies. Diagnosis of CD requires a high degree of suspicion. There is no single test for the diagnosis, which is reached after a combination of clinical and laboratory data. The first step for diagnosis is a serum test such as tissue antitransglutaminase, antibodies or antiendomisio. If serum result is positive, prompt duodenal biopsy is necessary for diagnostic confirmation. An IgA deficiency, which occurs in 3% of patients with DC, may lead to false-negatives because serology is based on IgA. Another situation of false-negative tests is diet restriction of gluten; therefore diagnostic investigation must be carried out during a diet containing gluten. The screening for CD in asymptomatic individuals is not indicated.

Correlation between results of PCR and specific serological tests in diagnosis of Epstein-Barr virus in patients with mononucleosis syndrome

Routine laboratory diagnosis of infectious mononucleosis is based on EBV serological testing, but due to problems in interpretation of results, molecular methods, especially PCR, are often necessary. The aim of the present study was to investigate correlation between results of PCR and specific serological tests in diagnosis of Epstein-Barr virus in patients with mononucleosis syndrome. The study comprised 68 patients with mononucleosis syndrome. Their blood samples were tested using ELISA for detection of 4 EBV specific antibodies (anti-VCA IgM and IgG, anti-EA-D IgG and anti-EBNA-1 IgG) and PCR for detection of EBV DNA. According to results of serology 42 patients had acute primary infection, 2 reactivation, 1 chronic active infection, 19 past infection, and 4 have been EBV seronegative. EBV DNA was detected in 17 patients (25%) and all of them were serologically defined as acutely infected. PCR was useful for resolving unclear serology results. Specific serology is the first step in diagnosis of IM, but PCR may serve as a useful additional diagnostic tool for clarifying serological dilemmas, reaching final diagnosis and defining status of the infection.

Flowcharts for the management of biliary tract and ampullary carcinomas

No strategies for the diagnosis and treatment of biliary tract carcinoma have been clearly described. We developed flowcharts for the diagnosis and treatment of biliary tract carcinoma on the basis of the best clinical evidence. Risk factors for bile duct carcinoma are a dilated type of pancreaticobiliary maljunction (PBM) and primary sclerosing cholangitis. A nondilated type of PBM is a risk factor for gallbladder carcinoma. Symptoms that may indicate biliary tract carcinoma are jaundice and pain in the upper right area of the abdomen. The first step of diagnosis is to carry out blood biochemistry tests and ultrasonography (US) of the abdomen. The second step of diagnosis is to find the local extension of the carcinoma by means of computed tomography (CT), magnetic resonance imaging (MRI), magnetic resonance cholangiopancreatography (MRCP), percutaneous transhepatic cholangiography (PTC), and endoscopic retrograde cholangiopancreatography (ERCP). Because resection is the only way to completely cure biliary tract carcinoma, the indications for resection are determined first. In patients with resectable disease, the indications for biliary drainage or portal vein embolization (PVE) are checked. In those with nonresectable disease, biliary stenting, chemotherapy, radiotherapy, and/or best supportive care is selected.

Practical guidelines for diagnosis and early management of drug-induced liver injury

The spectrum of drug-induced liver injury (DILI) is both diverse and complex. The first step in diagnosis is a suspicion of DILI based on careful consideration of recent comprehensive reports on the disease. There are some situations in which the suspicion of DILI is particularly strong. Exclusion of other possible etiologies according to the pattern of liver injury is essential for the diagnosis. In patients with suspected DILI, diagnostic scales, such as the Councils for International Organizations of Medical Sciences/Roussel Uclaf Causality Assessment Method (CIOMS/RUCAM) scale, may be helpful for the final diagnosis. Early management of DILI involves prompt withdrawal of the drug suspected of being responsible, according to serum levels of alanine aminotransferase (ALT), alkaline phosphatase (ALP), and total bilirubin (T-Bil). However, as DILI patients may show resolution of liver injury without discontinuation of the drug, it should be carefully evaluated whether the suspected drug should be discontinued immediately with adequate consideration of the importance of the medication.

A NEW ERA IN EPILEPSY CARE Guidelines address first steps in diagnosis and treatment

A NEW ERA IN EPILEPSY CARE Guidelines address first steps in diagnosis and treatment

Emergency department capsule endoscopy for acute gastrointestinal bleeding: A randomized pilot study

Study objectives: For more than 30 years, the first step in diagnosis or treatment of acute gastrointestinal bleeding has been upper endoscopy/enteroscopy (EGD) and colonoscopy. Approximately 80% of patients do not have a source of bleeding detected, possibly because the source of bleeding is outside the range of EGD or colonoscopy or because the bleeding has already stopped by the time the procedure is performed. We conduct a pilot study to obtain preliminary information on whether capsule endoscopy can improve detection of a source of acute gastrointestinal bleeding in the emergency department (ED) setting. Methods: The study was performed in a community teaching hospital with 30,000 ED visits per year. Twenty-four patients were randomized to either early (capsule endoscopy in the ED before conventional investigations) or late (capsule endoscopy after conventional evaluation completed) in a 2:1 ratio. Diagnostic information from the capsule endoscopy was provided to the primary care physician as soon as the physician could be reached. Additional evaluation was performed at the discretion of the primary care physician. Results: Of the 138 patients screened during a 6-month period, 24 met our inclusion criteria (nonhematemesis acute gastrointestinal bleeding) and signed consent. On presentation to the ED, the 2 groups were similar in age, sex, initial blood pressure, hematocrit level, and use of anticoagulants, aspirin, and nonsteroidal anti-inflammatory drugs. Twenty-one (88%) of 24 patients were taking anticoagulants or antiplatelet agents. Within 24 hours of enrollment, 12 (75%) of 16 patients in the early capsule endoscopy group had a presumptive source of bleeding capsule endoscopy (10), EGD (1), or colonoscopy (1) versus 3 (38%) of 8 patients (EGD [3]) in the late capsule endoscopy group ( P =.099). Median time to presumptive diagnosis by any modality was 19 hours in the early capsule endoscopy group versus 35 hours in the late capsule endoscopy group ( P =.06). Overall, active bleeding was detected by capsule endoscopy in 13 (54%) of 24 patients, 2 (11%) of 17 by EGD, and zero (0%) of 13 by colonoscopy. Capsule endoscopy provided minimal or no useful data in 4 (17%) of 24 patients because of failure to swallow the capsule (1) or gastric retention (3). Conclusion: In this pilot study, there was a strong trend to a significant increase in detection and decrease in time to detection of a presumptive source of bleeding when capsule endoscopy was performed in the ED setting.

Intolérance à l’effort et rhabdomyolyses d’effort : étiologies et démarche diagnostique

Exercise intolerance, sometimes complicated by rhabdomyolysis is a frequent complaint of patients consulting in neuromuscular centers. It may be the main clinical manifestation of many metabolic myopathies and muscular dystrophies. The first step of diagnosis relies on the performance of in vivo metabolism investigations: forearm or bicycle ergometer exercise tests, phosphorus nuclear magnetic resonance spectroscopy. A few enzymatic defects may be directly assessed on blood samplings, in particular carnitine palmitoyltransferase deficiency; but muscle biopsy is necessary in most cases in order to precise the etiology. When CK levels are elevated at rest, a muscle CT scan should be performed in order to detect muscles fatty replacement suggestive of a muscular dystrophy; this diagnosis will be confirmed with immunohistochemical and western-blot analysis of muscle proteins. We present a description of the main metabolic myopathies manifesting by exercise intolerance with an overview of clinical and laboratory evaluation leading to diagnosis. Differential diagnosis are also discussed.

Diagnosis of Acute Basophilic Leukemia

De novo acute basophilic leukemia (ABL) is a rare form of acute leukemia. Most frequently, the blast cells are morphologically undifferentiated, and the recognition of the presence of coarse basophilic granules may be the first step in diagnosis of this rare disorder. These granules are metachromatic and MPO negative. Immunophenotyping shows myeloid markers and some more specifically associated antigens such as CD9 or CD25 which are strongly expressed. Lymphoid, erythroid or megakaryocytic markers are not significantly expressed. In the absence of basophilic granules, some cases are classified as AML MO if they express myeloid markers, or undifferentiated leukemia if no markers are present. If specific immature basophilic or theta granules are present, only an electron microscopic study will enable the diagnosis of a basophilic lineage assignment. Some cases may be misdiagnosed if all these steps are not followed. After all these investigations, two types of ABL may be defined: 1 - A pure ABL, monophenotypic with basophilic lineage involvement alone, which should be classified as AML M8. Genetic studies in these cases are very important for understanding the leukemic process and in a few cases, we can suspect c-MYB oncogene involvement but further investigations are still necessary. 2- More frequently, acute leukemia can be a mixture of blasts from different lineages with an important but variable participation of mature or immature basophilic cells. These cases must be classified as AML/Baso or multiphenotypic acute leukemias and often present Phl -chromosomal abnormality.

Higher-Order Diagnosis of Two-Way Tables, Illustrated on Two Sets of Demographic Empirical Distributions

Two-way tables of all kinds often require diagnosis, usually of the residuals after some simple fit such as row-PLUS-column or row-TIMES-column. The first step in diagnosis is likely to be either one-degree-of-freedom-for-non-additivity or a diagnositic plot (for which the former is the linear regression term). Not all diagnoses can be made at the first step. Some diagnostic plots appear like a diagonal cross, or, when such an appearance is not quite clear, become converted to oppositely tilted pictures when we look only at points with high fitted values and, separately, at those with low fitted values. Such behavior diagnoses a need for a more subtle re-expression than powers and logs, in our examples a need for a re-expression like plamda -(1 - p)lamda. The appearance and treatment of such diagnoses, in two examples, lead into the use of letter-value displays and the associated plots to study the character of non-normality, instances of the effect of the method of fitting on the shape of the distribution of residuals, and convenient algorithms for the iterative, recursive fitting of a variety of additive, multiplicative, and mixed additive-multiplicative models to any kind of two-way table, APL programs for which are appended.

Tuberculin Testing In Ontario Mental Hospitals: A 15-YEAR REVIEW OF STAFF

The value of tuberculin testing for case finding in children and contacts has been stressed in recent years by Myers,6 Heaf7 and Hsu.8 This 15-year review shows the value of serial tuberculin testing in an adult group who are not known contacts and are in apparent good health in the following ways: Reactors are declining steadily. The rate of tuberculin conversions is declining. About 33 per 1,000 converted during the 15 years. Men converted more often than women. All age groups converted at about the same rate. Of convertors about 31 per 1,000 progressed to active tuberculosis, approximately equally for men and women. Convertors in age groups up to 39 years yielded the majority of active cases. The majority of convertors becoming active did so within four or five months. Cases of active tuberculosis where the tuberculin test was the first step in diagnosis showed an excellent prognosis. The rate of staff members with arrested tuberculosis has steadily declined.

Detection, recognition and management of anemia.

Anemia is invariably detected by a reliable hemoglobin determination. Recognition of the general mechanism (increased red cell loss or destruction or decreased red cell or hemoglobin production) is the first step in diagnosis. Then the particular cause may be defined directly or by exclusion. Special diagnostic studies may be necessary, and a systematic conception of the causes will enable application of appropriate tests and, subsequently, intelligent management.