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PubMed1999

Oxidative phosphorylation disease diagnosis.

Although the mitochondrial (mtDNA) encodes only 13 polypeptide subunits of the oxidative phosphorylation (OXPHOS) enzymes, approximately 1,000 proteins are estimated to be necessary for proper OXPHOS function. Over the past ten years, a wide variety of adult and pediatric OXPHOS diseases were found to be caused by or associated with mtDNA mutations and nuclear DNA mutations. These advances enhanced the ability to definitively diagnose patients, develop management plans, and provide genetic counseling. However, in most individuals, diagnosing OXPHOS diseases is difficult and depends on assessing complex data derived from clinical, neuroradiologic, metabolic, biochemical, and pathologic evaluations. As understanding of nuclear OXPHOS genes grows, a more coherent approach to diagnosis, management, and treatment is likely to emerge. This article reviews major classes of OXPHOS diseases, a diagnostic algorithm, and recent advances in this complex field.

Algorithms↗
PubMedDate not supplied

[Value of ultrasound in differential diagnosis of pediatric hip joint effusion (Perthes disease, C. fugax, epiphysiolysis coapitis femoris].

UNLABELLED: Hip pain during infancy is frequently harmless by nature and hardly demands any therapeutic intervention. A careful differential diagnosis is of great importance. AIM: In our study we attempted to evaluate the significance of sonography as a non-radiant and economical aid in the differential diagnosis of hip diseases during infancy. METHODS: The study population consisted of children aged from 2 to 14 years, who visited our clinic with hip complaints and evident capsular distension (more than 2 mm compared to the contralateral hip joint) and without preceeding diagnosis. The study period was from 1988 to 1995. From the 82 children enrolled in this study we diagnosed Coxitis fugax (n = 54), Morbus Perthes (n = 19), Epiphysiolysis capitis femoris (n = 5), rheumatic Arthritis (n = 2), septic Arthritis (n = 1) and femoral Osteoid-Osteoma (n = 1). All patients with Coxitis fugax were scheduled for clinical and sonographic re-examination. RESULTS: Coxitis fugax is the most frequent disease of the hip during infancy. Perthes disease is the most important differential diagnosis up to the age of 10 years. Epiphysiolysis capitis femoris and rheumatic diseases proved to be most common differential diagnosis among elderly children. As a result of our study we were able to establish a diagnostic algorithm of hip diseases during infancy. Sonographic examination proves to be of great value especially in the differential diagnosis of Coxitis fugax and M. Perthes. In many cases the X-ray examinations which were previously mandatory could even be dispensed with. RELEVANCE: Although this concept requires careful supervision of the patients, it spares 60% of the children from undergoing X-ray examinations or MRI.

Adolescent↗
PubMed1993

Possible influence of the prospective payment system on the assignment of discharge diagnoses for coronary heart disease.

BACKGROUND: The prospective payment system, under which diagnosis-related groups (DRGs) are used to reimburse hospitals for the care of Medicare patients, replaced the fee-for-service method of payment in Rhode Island in 1983 and in Massachusetts in 1985. Changes in financial incentives resulting from the use of the DRG system may have influenced the assignment of discharge diagnostic codes away from those with lower reimbursement toward codes with higher reimbursement. METHODS: We collected data from the hospital records of patients 35 through 74 years of age who were discharged with codes 410 through 414 (representing various categories of coronary heart disease) of the International Classification of Diseases, 9th Revision, Clinical Modification (ICD-9-CM). The patients were discharged from seven hospitals in two New England communities (one in Rhode Island and one in Massachusetts) between 1980 and 1988. The rates of diagnosis of various forms of coronary heart disease were determined by studying ICD-9-CM hospital discharge codes (codes 410 and 411 for acute forms of coronary heart disease and codes 412, 413, and 414 for chronic forms) and by using a computerized diagnostic algorithm designed to detect definite myocardial infarction and fatal coronary heart disease. RESULTS: The rates of definite coronary events diagnosed by the algorithm and by the study of ICD-9-CM codes 410 through 414 were constant or increased slightly during the study period. However, the frequency of assignment of codes for the acute forms of coronary heart disease (which entail higher reimbursement) rose from 35.2 percent to 48.4 percent among discharged patients with cardiac disease after the institution of DRGs. The majority of this increase was associated with the code for unstable angina pectoris. The frequency of assignment of codes for the chronic forms of coronary heart disease (which entail lower reimbursement) decreased reciprocally, from 64.8 percent to 51.6 percent (P < 0.001). CONCLUSIONS: Our data are consistent with the hypothesis that the prospective reimbursement system has influenced the assignment of hospital discharge codes in a way that would increase payment to hospitals. However, the data do not permit us to distinguish whether hospitals began to assign more precise diagnoses with the advent of the DRG system, or whether they began to favor diagnoses of acute conditions solely for financial reasons.

Acute Disease↗
PubMed1996

Recent trends in acute coronary heart disease--mortality, morbidity, medical care, and risk factors. The Minnesota Heart Survey Investigators.

BACKGROUND: Mortality from coronary heart disease (CHD) has declined in the United States since the late 1960s. To understand the reasons for the decline during the period form 1985 to 1990, we examined trends in mortality and morbidity due to CHD, medical care, and risk factors for CHD in a large metropolitan population. METHODS: We identified all deaths from CHD in residents of the Minneapolis-St. Paul, Minnesota, metropolitan area who were 30 to 74 years old and classified the deaths according to whether they occurred in or out of the hospital. For 1985 and 1990, we obtained lists of patients in this age range who were discharged with a diagnosis of acute CHD from all area hospitals, and we selected the medical records of 50 percent of these patients for abstraction. Definite myocardial infarctions were identified with standardized diagnostic algorithm. The 1985 and 1990 cohorts of patients hospitalized for myocardial infarction were followed for at least three years to identify those who died from any cause. Trends in risk factors for CHD were investigated through surveys of 25-to-74-year-olds that were conducted in 1985 through 1987 and 1990 through 1992. RESULTS: Between 1985 and 1990, mortality from CHD fell by 25 percent for both men and women, and the decline in in-hospital mortality (41 percent) exceeded the decline in out-of-hospital mortality (17 percent) among men. The rates of hospitalization for acute myocardial infarction declined slightly, by 5 to 10 percent, between 1985 and 1990. Survival among patients hospitalized for acute myocardial infarction increased substantially during that period. After adjustment for age and previous myocardial infarction, the relative risk of dying within three years of hospitalization for a myocardial infarction (for the 1990 cohort as compared with the 1985 cohort) was 0.76 for men (95 percent confidence interval, 0.65 to 0.89) and 0.84 for women (95 percent confidence interval, 0.71 to 1.00). Substantial increases in the use of thrombolytic therapy, heparin, aspirin, and coronary angioplasty paralleled the survival trends. In general, the risk-factor profile of the area population with respect to CHD also improved considerably during that time. CONCLUSIONS: The recent decline in mortality due to CHD in the Minneapolis-St. Paul metropolitan area can be explained by both the declining incidence of myocardial infarction in the population and the improved survival of patients with myocardial infarction.

Acute Disease↗
PubMedDate not supplied

Accuracy of exercise testing in the assessment of the severity of myocardial ischemia as determined by means of technetium-99m tetrofosmin SPECT scintigraphy.

BACKGROUND: The separation of patients with suspected or known coronary artery disease into low- and high-risk subgroups by means of noninvasive testing is highly relevant in the selection of patients who require further diagnostic or therapeutic investigation. We evaluated whether exercise electrocardiographic variables during exercise testing might be a means of predicting the severity of myocardial ischemia as assessed with myocardial scintigraphy. METHODS AND RESULTS: We retrospectively reviewed 816 consecutive patients (mean age, 57+/-10 years) who underwent exercise technetium-99m tetrofosmin single photon emission computed tomography (SPECT) for the assessment of suspected or known coronary artery disease. Eight independent significant predictors of the extent and severity of reversible perfusion defects (ischemic perfusion score), which when integrated in a diagnostic algorithm satisfactorily discriminated patients with no reversible perfusion defects (sensitivity, 75%; specificity, 80%) and patients with severe impaired myocardial perfusion (> or =11 ischemic perfusion score; sensitivity, 77%; specificity, 82%), were identified by means of stepwise discriminant analysis. However, patients with mildly to moderately impaired myocardial perfusion (> or =21 but <11 ischemic perfusion score) were poorly discriminated (sensitivity, 50%; specificity, 78%). The set of variables that were significant (P<.0001) for prediction included sex, myocardial infarction, exercise angina, the maximal amount of ST segment depression, rate-pressure product threshold criteria, slope of ST segment depression, ST/heart rate index, and peak exercise heart rate. CONCLUSIONS: The results of the use of clinical and electrocardiographic exercise variables satisfactorily agrees with the results from scintigraphy only for patients with no reversible perfusion defects and with severely impaired myocardial perfusion. However, it fails as an approach with universal applicability.

Algorithms↗
PubMed2000

Submandibular gland mucocele: diagnosis and management.

Mucoceles originating from the submandibular gland are extremely rare. A review of the English literature resulted in identification of only 5 such cases. We have diagnosed and treated 2 submandibular mucoceles. Both lesions were removed in continuity with the submandibular and sublingual glands. No complications and no recurrences have occurred to date. The diagnosis of these lesions is complicated because of the lack of specific clinical diagnostic criteria and the similarity between submandibular mucoceles and plunging or cervical ranulas. Computerized tomography and specifically the presence of a so-called "tail" sign is pathognomonic for plunging ranula. This sign is absent in mucoceles originating in the submandibular glands. The treatment strategies vary as well. A diagnostic algorithm and a surgical rationale for treatment of submandibular mucoceles are presented.

Adolescent↗
PubMed2002

Bedside diagnostic minilaparoscopy in the intensive care patient.

BACKGROUND: The diagnosis of acute abdominal conditions in the critically ill patient remains difficult. The goal of this study is to demonstrate the use of bedside minilaparoscopy as a diagnostic aid in the intensive care unit (ICU) in patients with possible intra-abdominal catastrophic condition. METHODS: Between February 1998 and May 1999, intensive care patients with abdominal pain, unexplained acidosis or sepsis, or suspected mesenteric ischemia were eligible for bedside diagnostic minilaparoscopy (3.3-mm laparoscope and instruments). The procedure was performed at bedside in the ICU with the patient under local anesthesia and intravenous sedation. Pneumoperitoneum was established with nitrous oxide (N(2)O) to a pressure of 8 to 10 mm Hg. Hemodynamics and ventilatory parameters were monitored before, during, and after the procedure. RESULTS: Nineteen patients underwent bedside diagnostic minilaparoscopy, including 1 patient who underwent 2 diagnostic laparoscopies. Total procedure time was 9 to 68 minutes (mean, 21 minutes). Three patients were found to have extensive mesenteric ischemia and did not undergo laparotomy. One patient found to have questionably viable bowel at laparoscopy underwent a nontherapeutic formal laparotomy. One patient had a gangrenous gallbladder, and another had a small ischemic segment of bowel; each underwent later open laparotomy and resection. The remaining laparoscopic examinations either showed a nonsurgical cause for the patient's condition or were normal. Nontherapeutic laparotomy was avoided in 19 of 20 patients. One gallbladder perforation occurred during laparoscopy in a patient with a necrotic gallbladder. CONCLUSIONS: Bedside minilaparoscopy can be a safe and accurate method to evaluate critically ill patients in whom the possibility of mesenteric ischemia or other intra-abdominal process is entertained. Nontherapeutic laparotomy can be avoided in many critically ill patients. Bedside diagnostic laparoscopy can be a useful replacement for diagnostic laparotomy in the operating room. It should be included in the diagnostic algorithm in the evaluation of the unstable patient in the ICU with a suspected acute intra-abdominal process.

Abdomen, Acute↗
PubMed1988

Pulmonary embolism. Strategy for evaluation and treatment of patients at increased risk.

Pulmonary embolism is a common clinical problem, particularly in hospitalized patients. Its recognition is difficult because no single sign, symptom, or laboratory test is diagnostic for its presence. A high index of suspicion must be maintained for predisposed patients. The diagnostic algorithm presented here suggests an approach to definitive assessment. Anticoagulation, the management of choice, is highly effective in reducing thromboembolic deaths and in preventing recurrent pulmonary embolism. Low-dose anticoagulant therapy may also be preventive.

Algorithms↗
PubMed1990

Renal masses in adults. Differentiating benign from neoplastic causes.

Diagnostic evaluation of renal masses in adults has been a perplexing problem. With the advent of new imaging methods over the past 15 to 20 years, the best approach has varied from institution to institution, depending on the equipment available and the preference of the physician. A diagnostic algorithm is presented here to guide the physician in determining the order in which certain techniques should be considered, thus avoiding unnecessary tests and cutting healthcare costs. In general, benign masses, malignant masses, and pseudoneoplasms have characteristic features that distinguish them from each other if the physician knows how to use the various imaging techniques and interpret results.

Adult↗
PubMed2000

Antiendomysium versus antigliadin antibodies in screening the general population for coeliac disease.

BACKGROUND: It has recently been shown that mass screening for coeliac disease, using either the serum antigliadin (AGA) or antiendomysium antibodies (EMA) as screening test, can detect large numbers of cases that had escaped clinical diagnosis. The influence of the diagnostic algorithm on the results of the coeliac screening has not yet been evaluated. Our aim was to compare the validity of the AGA and the EMA protocols in 2096 students living in northwest Sardinia, who took part in a serologic screening for coeliac disease. METHODS: The sample included 2096 of 2345 eligible students (89%) aged 11-15 years who underwent serum IgG AGA, IgA AGA, and IgA EMA determinations. Total serum IgA level was measured in sera showing isolated IgG AGA positivity. Subjects showing at least one of the following: a) EMA positivity, b) IgA AGA positivity, or c) IgG AGA positivity and IgA deficiency (<5 mg/dl) were asked to submit to a small-intestinal biopsy. RESULTS: The prevalence of coeliac disease was 19 (16 showing typical enteropathy, 1 potential case, and 2 known cases) of 2096 (0.91%; 95% confidence interval = 0.50-1.31). Seventeen small-intestinal biopsy specimens were needed to confirm 16 cases of manifest coeliac disease (positive predictive value (PPV) = 94%) by the EMA protocol, whereas the AGA protocol required 21 biopsy specimens for 12 cases of coeliac disease (PPV = 57%). None of six IgA-deficient, IgG AGA-positive cases detected by the AGA protocol also had coeliac disease. CONCLUSIONS: The EMA protocol is superior to the AGA protocol for mass screening of coeliac disease because of higher sensitivity, decreased need for intestinal biopsy, and possibility to detect potential cases of coeliac disease.

Adolescent↗
PubMed2003

Diagnosis of tuberculous lymphadenitis in Butajira, rural Ethiopia.

Tuberculous lymphadenitis (TBLN) is a diagnostic challenge in sub-Saharan Africa, where there is a high rate of human immunodeficiency virus (HIV) infection. This study aimed to find ways to improve the diagnosis in Butajira, rural Ethiopia, where TBLN constitutes 40% of the total tuberculosis (TB) diagnosis. Among 147 clinically suspected cases, 107 (72.8%) were confirmed as TBLN by fine-needle aspiration (FNA) cytology and acid-fast bacillus (AFB) smear examination. Of the remaining 40 cases, denoted non-tuberculous lymphadenitis (NTBLN) after this smear examination, 37 (92.5%) showed a cytological pattern with neutrophil aggregates. The clinical manifestations were similar and cervical lymph nodes were the most affected in these 2 groups. 24 of the 107 TBLN cases (22.4%) and 9 (22.5%) of the other cases were seropositive for HIV infection (p > 0.5). FNA cytology combined with AFB smear examination is a good alternative to histology in rural Ethiopia where the expertise in taking biopsies is very limited. Polymerase chain reaction for Mycobacterium tuberculosis complex DNA was positive in 15 of 23 cases tested with NTBLN cytology, showing that an additional independent criterion for the presence of M. tuberculosis is needed for diagnosis in lymphadenitis cases of this kind. These findings could help to strengthen the diagnostic algorithm suggested by the National TB Control Program.

Adolescent↗
PubMed2006

True hermaphroditism: clinical profile and management of six patients from North India.

True hermaphroditism (TH) is an uncommon cause of genital ambiguity. This is a retrospective compilation of six cases of true hermaphroditism seen at our institute over the last one and a half decades. Clinical presentation was wide-ranging, with age at presentation varying from 2 months to 41 years and symptoms ranging from ambiguous genitalia to a lower abdominal mass. All patients had perineoscrotal hypospadias with varying degrees of labioscrotal fusion. Clinically, gonads were not palpable in four cases and internally an ovotestis was observed in half of them. Karyotyping was 46, XX in all except one. The majority of the patients were reared as males. True hermaphroditism (TH) forms an important differential in the diagnostic algorithm of ambiguous genitalia especially if gonads are not palpable and congenital adrenal hyperplasia has been ruled out.

Adult↗
PubMedDate not supplied

The use of electron microscopy to refine diagnoses in the daily practice of cytopathology.

Conceived as a screening tool, cytology is a field that since the 1980s has become more diagnostic in its scope. The advent of the fine-needle aspiration biopsy (FNAB) is responsible for cytology's new place in pathology. In the everyday practice of cytopathology, about 85-90% of the nongynecologic cases can be diagnosed with the use of routine stains (i.e., Papanicolaou and Diff Quik). The other 10-15% of the cases require the use of ancillary diagnostic techniques for a precise diagnosis. Immunohistochemistry helps solve approximately 50% of these cases, and the other half of these challenging cases are best approached and diagnosed by using electron microscopy (EM). In their practice, the authors obtain cytologic samples for EM routinely in difficult cases. Unfortunately, a percentage of these cases collected for ultrastructural evaluation do not have enough cells after processing, and others only have a few diagnostic cells available. In the cases in which at least a handful of cells are available, EM is almost invariably helpful in one way or another, either making a definitive diagnosis or refining the diagnosis. A sampling of FNAB cases from the authors' everyday practice is prevented to illustrate the use of EM in the practice of cytopathology. The cases have been selected from among the most common diagnostic challenges to highlight the important role that ultrastructural evaluation plays in a busy cytology practice. In our practice ultrastructural evaluation is a piece of the puzzle, which, along with the clinical history, clinical impression, light microscopic/cytologic features, and other ancillary techniques (IHC, flow cytometry, and molecular pathology), help compile an accurate diagnosis. Many times EM is the most important component of the diagnostic algorithm.

Adolescent↗
PubMed2026

Integrated bioinformatics analysis reveals cross-talking hub genes and therapeutic agents between sepsis and acute myocardial infarction.

BACKGROUND: Sepsis and acute myocardial infarction (AMI) are two significant diseases that may share overlapping etiological mechanisms. This study aims to systematically identify core genes common to both conditions and to explore their potential as therapeutic targets and drug candidates through an integrative analysis of clinical data and bioinformatics. METHODS: The AMI dataset was obtained from the GEO database, and RNA sequencing data were collected from blood samples of patients with sepsis at our hospital. Common genes were identified using differential expression gene analysis (DEG) and weighted gene co-expression network analysis (WGCNA). Functional enrichment analyses, including Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway analysis, were performed. A protein-protein interaction (PPI) network was constructed, and hub genes were identified using the MCC/Degree algorithm. Diagnostic value was assessed via receiver operating characteristic curve analysis. Immune infiltration patterns, single-cell sequencing data, and molecular docking simulations were employed to evaluate immune relevance and identify potential therapeutic compounds. RESULTS: A total of 417 genes were identified between sepsis and AMI, with enrichment analysis revealing significant involvement in inflammatory responses. Three hub genes-JAK2, MYD88, and TIMP1-were selected for further investigation. ROC curves confirmed their strong diagnostic performance for both diseases. Immune infiltration analysis showed that these core genes were significantly correlated with the infiltration levels of various immune cell types. Molecular docking indicated that quercetin exhibited stable binding affinity with the proteins encoded by these genes. qPCR validation further confirmed the upregulation of these three genes, supporting the anti-inflammatory effects of quercetin as a potential targeted therapy. CONCLUSION: JAK2, MYD88, and TIMP1 were identified as shared core genes in sepsis and AMI. These genes not only serve as potential diagnostic biomarkers but also offer novel targets for developing common therapeutic strategies for both conditions. Furthermore, quercetin emerges as a promising candidate for targeted treatment.

Humans↗
PubMed2000

Pyelectasis and hydronephrosis in the newborn and infant.

UNLABELLED: The aim of this review is to describe the present status of prenatally diagnosed pyelectasis and hydronephrosis. Ultrasonographic definitions are presented, along with guidelines for the management of urinary tract dilatations. Isolated pyelectasis without caliceal involvement rarely constitutes a pathological situation and does not require any particular diagnostic or therapeutic measures. Obstructive dilatation is characterized by an obstacle to normal urinary flow situated at any level in the urinary tract, with consequent stagnation of urine and dilatation upstream of the obstruction. If the obstruction is not correctly treated it can cause a progressive deterioration of renal function. The presence of ureterectasia plays a crucial role in the diagnostic algorithm and a micturitional cystourethrography is necessary to look for a vesicoureteric reflux (VUR). The significance of urinary tract dilatation is discussed in detail. CONCLUSION: In newborns with pyelectasis or hydronephrosis the paediatrician's goal should be to strike the right balance between excessive medical intervention and sufficient intervention for the diagnosis of potentially dangerous conditions.

Dilatation, Pathologic↗
PubMed2001

Hepatic technetium-99m-mebrofenin iminodiacetate scans and serum gamma-glutamyl transpeptidase levels interpreted in series to differentiate between extrahepatic biliary atresia and neonatal hepatitis.

UNLABELLED: Hepatic technetium-99m-mebrofenin iminodiacetate (99mTc-mebrofenin IDA) scans and serum gamma-glutamyl transpeptidase (GGTP) have high sensitivity for extrahepatic biliary atresia (EHBA). This study was based on the hypothesis that the interpretation of results of 99mTc-mebrofenin IDA scans and serum GGTP levels in series would result in a reduction of the false positivity observed with these tests individually. The aetiology of neonatal cholestasis in 132 study patients was: 25% (33/132) EHBA, 45.5% (60/132) neonatal hepatitis (NH) with an identifiable cause and 19.7% (26/132) idiopathic NH. Of the various clinical, biochemical and imaging parameters that were significantly different between patient groups, sensitivity for EHBA was: serum GGTP > or = 150 IU l(-1) (100%), 99mTc-mebrofenin IDA scans (100%), pale stools (82.8%) and total serum bilirubin > or = 12 mg dl(-1) (66%). However, specificity ranged from 48.5 to 79%. Of the 63 patients who had non-excreting IDA scans, operative cholangiograms could be avoided on the basis of a specific aetiological diagnosis of NH, made concurrently, in only 9 infants. The rest (54) underwent operative cholangiograms; 21 (39%) of these had patent biliary trees and therefore underwent the procedure unnecessarily. If serum GGTP (< 150 IU l(-1)) had been used as a screen after IDA scanning in these 54 patients, operative cholangiograms could have been avoided in another 12 patients and thereafter only 9/42 (21%) of the operative cholangiograms would have been considered unnecessary. CONCLUSION: A diagnostic algorithm is proposed wherein serum GGTP level (at a cut-off level that maintains 100% sensitivity for EHBA) is used in series with non-excreting 99mTc-mebrofenin IDA scans (for patients with no specific aetiological label). This strategy reduces the false positivity of individual tests.

Algorithms↗
PubMed2006

Ultrasonographic evaluation of fatty meal stimulated gallbladder contraction in the diagnosis of biliary dyskinesia in children.

AIM: Biliary dyskinesia (BD) is characterized by symptoms of biliary disease, no evidence of gallstones on ultrasonography (USG), and diminished gallbladder ejection fraction. The diagnosis is based on findings of abnormal gallbladder ejection fraction diagnosed by hepatobiliary scintigraphy before and after stimulation of gallbladder contraction with cholecystokinin (CCK). We used an easier diagnostic technique defined as ultrasonographic evaluation of fatty meal stimulated gallbladder contraction, employing USG with the diagnosis of biliary dyskinesia in children. The study was conducted by USG to investigate the volume and contractility of the gallbladder (GB) in fasting conditions and 45 min after a standardized fatty meal (SFM) in normal children and in a group of BD patients, and to compare the diagnostic value of this test with scintigraphy and to evaluate its use as a new method in the diagnostic algorithm of BD. METHODS: We assessed the volume changes and contractility of the GB in response to SFM by USG in 14 patients with BD diagnosed by cholecystokinin stimulated hepatobiliary scintigraphy (CCKs-HBS); and compared them with 14 control patients matched for age and gender before cholecystectomy. After an overnight fasting, GB volume was measured by USG then the GB volume was again measured after the SFM ingestion. Using USG, length, width and height of GB were measured, and volume of the GB was calculated using the 'Dodds' formula. These volume measurements were used to calculate the percentage of gallbladder emptying (ejection fraction). Fasting, after SFM and EF values comparisons between groups were done with student's t-test. RESULTS: No statistically significant difference of fasting GB volumes were demonstrated between BD and control groups (14.1+/-6.7 cm3 and 13.4+/-4.0 cm3 respectively). GB volumes of the BD group after SFM were significantly greater than in healthy controls (13.1+/-1.8 cm3 and 3.4+/-0.9 cm3 respectively, P<0.0005). The calculated percentage of gallbladder contraction (ejection fraction) was found to be lower in BD patients than in healthy controls (7.1%+/-1.8% and 73.8%+/-6.4%, respectively, P<0.0005). CONCLUSION: Ultrasonographic evaluation of fatty meal stimulated gallbladder contraction provides relatively reliable and reproducible results. Thus it can be used for scanning in patients with biliary symptoms as a prior modality to CCK-HBS since it is a relatively easier, safer and available method with which to make a definitive diagnosis of BD. The patients with symptoms of biliary disease and no evidence of gallstones on USG should be evaluated by the method proposed in this study before the routine laboratory and radiologic tests.

Adolescent↗
PubMed2006

JAK2 V617F in myeloid disorders: what do we know now, and where are we headed?

Activating tyrosine kinase (TK) mutations disrupt cellular proliferation and survival pathways and are increasingly recognized as a fundamental cause of human cancers. Until very recently, the only TK mutations widely observed in myeloid neoplasia were the BCR/ABL1 fusions characteristic of chronic myeloid leukemia and some acute leukemias, and FLT3 activating mutations in a minority of acute myeloid leukemias. Several rare TK mutations are found in various atypical myeloproliferative disorders, but big pieces of the pathobiological puzzle were glaringly missing. In the first half of 2005, one gap was filled in: 7 studies identified the same acquired amino acid substitution (V617F) in the Janus kinase 2 (JAK2) TK in large numbers of patients with diverse clonal myeloid disorders. Most affected patients suffer from the classic BCR/ABL1-negative myeloproliferative disorders (MPD), especially polycythemia vera (74% of n = 506), but a subset of people with essential thrombocythemia (36% of n = 339) or myelofibrosis with myeloid metaplasia (44% of n = 127) bear the identical mutation, as do a few individuals with myelodysplastic syndromes or an atypical myeloid disorder (7% of n = 556). This long-sought common mutation in BCR/ABL1-negative MPD raises many provocative biological and clinical questions, and demands re-evaluation of prevailing diagnostic algorithms for erythrocytosis and thrombocytosis. JAK2 V617F may provide novel molecular targets for drug therapy, and suggests other places to seek cooperating mutations or mutations associated with similar phenotypes. The story of this exciting finding will unfold rapidly in the years ahead, and ongoing developments will be important for all hematologists to understand.

Animals↗