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Definite Diagnosis (definite + diagnosis)
Selected AbstractsThe clinical presentation of mitochondrial diseases in children with progressive intellectual and neurological deterioration: a national, prospective, population-based studyDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 5 2010CHRISTOPHER M VERITY Aim, Our aim was to study the clinical presentation, mode of diagnosis, and epidemiology of mitochondrial disorders in children from the UK who have progressive intellectual and neurological deterioration (PIND). Method, Since April 1997, we have identified patients aged 16 years or younger with suspected PIND through the monthly notification card sent to all UK consultant paediatricians by the British Paediatric Surveillance Unit. Clinical details obtained from reporting paediatricians are classified by an Expert Group. Results, By July 2008, 2493 cases of PIND had been reported, among which there were 112 children (69 males, 43 females) with mitochondrial diseases presenting between birth and 14 years 7 months (median 12mo), divided into 13 subgroups. In some instances, clinical features were characteristic of mitochondrial disease, but many children presented non-specifically with combinations of developmental delay, hypotonia, failure to thrive, and seizures; 16 children had multisystem disease at presentation. Mortality was high: 40 children had died. Blood and/or cerebrospinal fluid lactate measurements were abnormal in 87 children, and 47 of 78 brain magnetic resonance images showed increased basal ganglia signal. Definite diagnoses were usually made by muscle enzyme or genetic studies. Interpretation, This is a unique population-based study of the mitochondrial disorders that cause childhood neurodegenerative disease. It provides detailed information about the clinical presentation and investigation of these complex cases. [source] Validity of a Discharge Diagnosis of Heart Failure: Implications of MisdiagnosingCONGESTIVE HEART FAILURE, Issue 4 2008Cāndida Fonseca MD Heart failure (HF) costs are largely due to hospitalization. The validity of a death/discharge diagnosis of HF (DDHF) is largely unknown. The authors assessed the validity of DDHF and the impact of misdiagnosing. The case notes of patients consecutively admitted to a medical department between January and June 2001 were reviewed. Cases with DDHF or cardiovascular diseases, potential precursors of HF (PPHF), were included. The diagnosis of HF (European Society of Cardiology guidelines) was classified as definite, possible, or miscoded. Of the 1038 patients admitted, 234 were enrolled: 157 with DDHF and 77 with PPHF. One hundred eighty patients had a definite diagnosis of HF. Of the 157 diagnoses coded as definite HF, 130 were correct, 21 had possible HF, and 6 were miscoded. Of the 77 patients classified as having PPHF, 38 had definite HF. The accuracy of the DDHF diagnosis was 72.2%: 21.1% were underdiagnosed and 8.3% overdiagnosed. DDHF failed to capture many HF admissions and therefore alone underestimates the prevalence, burden, and costs of the syndrome. [source] Role of fine-needle aspirate immunophenotyping by flow cytometry in rapid diagnosis of lymphoproliferative disordersDIAGNOSTIC CYTOPATHOLOGY, Issue 7 2007Ritu Gupta M.D. Abstract Immunophenotyping is an essential component in the diagnostic work-up of lymphoproliferative disorders (LPD). As compared to immunohistochemistry, flow cytometric immunophenotyping (FCMI) is rapid, quantitative and a more objective technique. This study was designed to evaluate the utility of FCMI on fine needle aspirates (FNA) in rapid diagnosis of LPD in routine clinical practice. FNA from 31 consecutive cases clinically suggestive of LPD were subjected to FCMI. Representative material for FCMI was obtained in 28 (90%) cases and a definite diagnosis established in 27 cases. Histopathogical correlation was available in 22 cases and concordance with FCMI results was observed in 19 (86.4%) cases. FCMI analysis was inconclusive in 4 cases. The results of FCMI were available the same day and were crucial for therapeutic purpose in 3 patients with superior vena cava syndrome. FCMI combined with cytological examination of aspirate smears permits rapid diagnosis with high level of accuracy resulting in efficient treatment planning for critically ill patients and those from far-off rural areas. Diagn. Cytopathol. 2007;35:381,385. © 2007 Wiley-Liss, Inc. [source] Utility of cytomorphologic criteria and p53 immunolocalization in distinguishing benign from malignant cystic squamous-lined lesions of the neck on fine-needle aspirationDIAGNOSTIC CYTOPATHOLOGY, Issue 1 2002Joseph F. Nasuti M.D. Abstract Fine-needle aspiration can effectively distinguish between benign and malignant cystic lesions of the head and neck. However, in some instances it may be difficult to arrive at a definite diagnosis due to limited cellularity, reactive changes, and cellular degeneration. In this study we examined the usefulness of six cytomorphologic features including the presence or prevalence of nuclear atypia, anucleated cells, tissue fragments, necrosis, and background inflammation in distinguishing between benign and malignant cystic lesions of the head and neck. The case cohort comprised 14 benign and 22 malignant cases. P53 immunostain was performed in 19 cases. These features were semiquantitatively measured on a sliding scale of 0,4 in both air-dried Diff-Quik-stained, alcohol-fixed Papanicolaou-stained smears and Millipore filter preparations. Mean and standard errors were calculated and statistical significance was evaluated by unpaired t -test (StatView). Increased number of tissue fragments (P < 0.001), greater degree of nuclear atypia (P < 0.001), and background necrosis (P < 0.001) were more frequent in cystically degenerating squamous carcinoma as compared to benign squamous cystic lesions. No significant differences were noted in the number of single cells, anucleated cells, or in the amount of background inflammation found in aspirates of benign vs. malignant cystic squamous lesions. A higher percentage of the malignant cystic squamous lesions FNA cases demonstrated p53 immunolocalization but this difference was not statistically significant. Application of the above-mentioned cytomorphologic criteria and the use of p53 immunostain could effectively distinguish between benign and malignant cystic lesions of the head and neck. Diagn. Cytopathol. 2002;27:10,14. © 2002 Wiley-Liss, Inc. [source] WHAT KIND OF BENEFIT DO WE EXPECT FOR PERORAL PANCREATOSCOPY IN THE DIAGNOSIS OF INTRADUCTAL PAPILLARY MUCINOUS TUMOR OF THE PANCREAS?DIGESTIVE ENDOSCOPY, Issue 2006Taketo Yamaguchi Intraductal papillary mucinous tumor (IPMT) of the pancreas is characterized by slow growth and a relatively favorable prognosis, however, invasive cancer originating in an IPMT is associated with a poor prognosis. Although various parameters in imaging modalities have been advocated to differentiate between benign IPMN and malignant ones, it is not easy to obtain definite diagnosis based on these parameters. Peroral pancreatoscopy (POPS) allows a clear and direct visualization of the pancreatic duct, providing useful information regarding tumor nature in IPMT. The authors have studied the usefulness of POPS in the diagnosis of IPMT. Nevertheless, its usefulness is not necessarily widely accepted and the significance of POPS is still controversial. In this review, the authors intended to address the diagnostic value of POPS and to clarify its role in the diagnosis of IPMT. The authors think treatment of IPMT can be improved by introducing POPS because the determination of surgical procedure as well as the area of resection based on the preoperative diagnosis of the involvement of the main pancreatic duct and branch duct is inevitable. [source] Primitive neuroectodermal tumor of the adrenal glandINTERNATIONAL JOURNAL OF UROLOGY, Issue 5 2006SHUICHI KOMATSU Abstract, We report a rare case of primitive neuroectodermal tumor arising from adrenal gland in adulthood, diagnosed preoperatively as having non-functional adrenocortical adenoma. Laparoscopic adrenalectomy was performed. Immunohistological examination revealed the definite diagnosis as primitive neuroectodermal tumor of the adrenal gland. Although primitive neuroectodermal tumor is a highly malignant neoplasm, there is no evidence of local recurrence and distant metastasis 16 months after surgery. [source] Chronic expanding hematoma in the psoas muscleINTERNATIONAL JOURNAL OF UROLOGY, Issue 12 2005TOSHINARI YAMASAKI Abstract, We report an unusual case of chronic expanding hematoma in the psoas muscle. A 53-year-old man was admitted for evaluation of a mass shadow in the left lower lung field on chest X-rays. He had also been suffering from dull left back pain. A computed tomography scan showed a cystic lesion with a rim enhancement in the left retroperitoneal space. Mixed signal intensity in a mosaic pattern was seen on a T2-weighted magnetic resonance image. We could not rule out a suspicion of a neoplastic intratumoral hemorrhage. Due to increased pain and the definite diagnosis, surgery was performed. Histopathological examination confirmed the diagnosis of chronic expanding hematoma. The expansion process is thought to be due to the irritant effects of blood and its breakdown products, which cause repeated exudation and bleeding from capillaries in the granulation tissues. [source] Presentation and therapy of myelolipomaINTERNATIONAL JOURNAL OF UROLOGY, Issue 3 2005ANDREAS MEYER Abstract, Background:, Adrenal myelolipoma is a rare and benign, hormonally inactive tumor frequently discovered incidentally. Because of the increasing rate of detection of adrenal myelolipoma, use of the correct diagnostic examination and treatment, with respect to surgical excision or regular controls, is continually gaining importance. We report herein on the largest series of surgically treated patients with adrenal myelolipoma from a single institute. Methods:, The clinical charts of 12 patients who underwent adrenal surgery for myelolipoma were reviewed. Follow up was carried out by means of re-examination or by personal contact with the primary physician. It was possible to perform a re-examination on eight of the 12 patients 6.9 years after the operation: one patient had died 5.2 years after surgery. Results:, Diagnosis of adrenal myelolipoma was made incidentally in seven patients, and during examination for reasons of unspecific abdominal or flank pain in five patients. A transabdominal approach was taken in five patients, a subcostal approach was taken in three patients and a translumbal approach was taken in four patients. At the follow up, all formerly symptomatic patients were free of symptoms. No recurrence could be seen; however, in one patient a contralateral adrenal myelolipoma had developed. Conclusions:, Symptomatic tumors, growing tumors or tumors larger than 10 cm should be excised surgically by means of an endoscopic or conventional approach, depending on the size. Surgical indication should not be liberalized by the introduction of more gentle operative techniques such as the translumbal or the endoscopic approach. A close follow up should be maintained in the case of patients free of symptoms, and for those with a definite diagnosis from imaging procedures. [source] Chronic pancreatitis in Chinese children: Etiology, clinical presentation and imaging diagnosisJOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, Issue 12 2009Wei Wang Abstract Background and Aims:, There is a paucity of literature regarding the clinical profile of chronic pancreatitis (CP) in children. The aims of this retrospective study were to determine the etiology and clinical presentation, and to present our experience in diagnosing CP in children in China. Methods:, Clinical data of children who were treated for CP at Changhai Hospital from January 1997 to August 2006 were reviewed. Results:, A total of 427 CP patients presented to our center. There were 42 (9.8%) children with CP, including 21 males and 21 females, with a mean age of 11.7 years at the first onset. The main etiological factor was idiopathic (73.8%). Of the patients, 78.5% had episodes of mild to moderate abdominal pain and 54.8% had multiple (, 4) episodes. The mean duration of symptoms prior to the diagnosis was 41.6 months and a definite diagnosis was not made until 2 years later in 57.1% of these patients. The positive rates of ultrasound (US), computed tomography (CT) and magnetic resonance cholangiopancreatography (MRCP) (or magnetic resonance imaging [MRI]) for detecting ductal changes and intraductal stones or pancreatic calcification were 51.4% and 45.4%, 71.4% and 87.5%, 80.0% and 61.5%, respectively. Conclusion:, The main etiological factor of Chinese children with CP is idiopathic. The main symptom in these patients is multiple episodes of mild to moderate abdominal pain, which often lead to a delay in the definite diagnosis. CT and MRCP (or MRI) should be used as the first investigation in the evaluation of these cases. [source] A prospective comparative study between hysterosalpingography and hysteroscopy in the detection of intrauterine pathology in patients with infertilityJOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH (ELECTRONIC), Issue 1 2003Sangchai Preutthipan Abstract Aim: ,To investigate the accuracy of hysterosalpingography (HSG) in comparison to hysteroscopy in the detection of intrauterine pathology in patients with infertility, where hysteroscopy is the gold standard. Methods: ,A prospective, comparative study included 336 patients undergoing both HSG and diagnostic hysteroscopy. Main outcome measures were sensitivity, specificity, positive and negative predictive value, and accuracy rate of HSG. Results: ,Intrauterine abnormalities were shown on HSG in 286 patients and confirmed in 200 at hysteroscopy. Contrarily intrauterine lesions were detected by hysteroscopy in 4 out of 50 patients in whom HSG were normal. The most common intrauterine finding of 336 patients on hysteroscopy were intrauterine adhesions (IUA) (74), followed by endometrial polyps (56), and submucous myoma, 26 patients. Statistical analysis revealed that HSG in the detection of intrauterine pathology had a sensitivity of 98.0%, specificity of 34.9%, positive predictive value of 69.9%, negative predictive value of 92.0%, and accuracy rate of 73.2% with false-positive and false-negative rates of 30.1% and 8.0%, respectively. The common incorrect diagnoses of HSG were misdiagnosing a condition of cervical stenosis as severe IUA in 24 patients, endometrial polyps as submucous myoma in 22 out of 50 patients, and submucous myoma as endometrial polyps in 12 out of 72 patients. Conclusions: ,Hysterosalpingography is still a useful screening test for the evaluation of the uterine cavity. If a hysterogram demonstrates intrauterine abnormalities, hysteroscopy should be considered to make a definite diagnosis and treatment. Both procedures should be complementary to each other. [source] Crow,Fukase (POEMS) syndrome: a study of peripheral nerve biopsy in five new casesJOURNAL OF THE PERIPHERAL NERVOUS SYSTEM, Issue 3 2003Claude Vital Abstract, The pathogenesis of Crow,Fukase (POEMS) syndrome is not well known, and in some cases, a definite diagnosis is difficult to establish. Nerve fibers have been studied in about 120 peripheral nerve biopsies (PNBs), and a mixture of axonal and demyelinating lesions were found in most of them. We report five new cases of Crow,Fukase (POEMS) syndrome with ultrastructural examination of their PNBs. In every case, there were features of axonal degeneration and primary demyelination. Interestingly, uncompacted myelin lamellae (UMLs) were present in every case at a percentage of 1,7. The association of UML and Crow,Fukase (POEMS) syndrome was described 20 years ago but was only reported in a few studies and found in 31 of 41 cases. In fact, this association is very significant because apart from Crow,Fukase (POEMS) syndrome, UMLs can only be found with such a frequency in rare cases of Charcot,Marie,Tooth disease type 1B. UML was also reported in acute and chronic inflammatory demyelinating polyneuropathies but at a much lower percentage. Moreover, in our five cases, UML was frequently associated with a decrease in the number of intra-axonal filaments, and this finding raises the problem of relationships between myelin formation and neurofilaments. So far, glomeruloid hemangiomas present in the dermis of some patients are considered as the only specific criteria of Crow,Fukase (POEMS) syndrome, but we think UML can also be regarded as highly suggestive of this entity on condition that a thorough ultrastructural examination of a PNB is performed. [source] Clinical features of Japanese male patients with type 1 autoimmune hepatitisALIMENTARY PHARMACOLOGY & THERAPEUTICS, Issue 3 2006Y. MIYAKE Summary Background Recently, unusual patients with autoimmune hepatitis, such as male patients, have increased. Aim To assess clinical feature of Japanese males with type 1 autoimmune hepatitis compared with females. Methods We investigated consecutive 160 patients with type 1 autoimmune hepatitis, who consisted of 20 males and 140 females, with a median age of 55 (16,79) years. Results Compared with females, males had a lower frequency of definite diagnosis according to the revised scoring system proposed by the International Autoimmune Hepatitis Group (40% vs. 85%) and lower serum levels of immunoglobulin G [1932 (1085,3850) mg/dL vs. 2624 (1354,6562) mg/dL]. However, they were similar in age, form of clinical onset, symptomatic concurrent autoimmune disease, human leucocyte antigen DR status and frequency of cirrhosis at the time of diagnosis. The normalization of serum alanine aminotransferase levels within 6 months after the introduction of corticosteroid treatment was lower in males compared with females (73% vs. 93%). Conclusions In male patients, a diagnosis of autoimmune hepatitis should be made carefully. In Japanese patients with a dominant frequency of human leucocyte antigen DR4, gender may affect the response to corticosteroid treatment. [source] Solitary pulmonary nodule in the liver transplant candidate: Importance of diagnosis and treatmentLIVER TRANSPLANTATION, Issue 6 2010Allan M. Concejero Our objectives were to define the incidence and etiology of solitary pulmonary nodules (SPNs) in patients undergoing living donor liver transplantation (LDLT), describe a diagnostic approach to the management of SPNs in LDLT, and define the impact of SPNs on the overall survival of adult LDLT recipients. Nine patients (9/152, 5.9%) were diagnosed with an SPN on the basis of chest radiography findings during the pretransplant survey. All were male. The mean age was 52 years. All the patients had hepatitis B virus,related cirrhosis with hepatocellular carcinoma. All were asymptomatic for the lung lesion. All underwent contrast-enhanced chest computed tomography (CT) to verify the presence and possible etiology of the SPNs. In 3 cases, CT was used to definitely determine that there was no pulmonary nodule; in 2, CT led to a definite diagnosis of pulmonary tuberculosis. In 4, CT led to a definite identification of an SPN but not to an etiological diagnosis. Two patients underwent outright thoracoscopy and biopsy of their SPNs. Biopsy showed cryptococcosis in both patients. One received a therapeutic trial of an antituberculosis treatment, and repeat CT after 1 month showed a regression in the size of the SPN. A diagnosis of tuberculosis was made. One patient had an inconclusive whole body positron emission tomography scan and subsequently underwent thoracoscopy where biopsy showed tuberculosis. A concomitant malignancy, either primary lung cancer or metastasis from the liver tumor, was not identified. All patients were surviving with their original grafts and were lung infection,free. The overall mean posttransplant follow-up was 54 months (range = 33-96 months). Liver Transpl 16:760-766, 2010. © 2010 AASLD. [source] Concurrent de novo autoimmune hepatitis and recurrence of primary biliary cirrhosis post,liver transplantationLIVER TRANSPLANTATION, Issue 5 2001Chee Kiat Tan FRCP (Edin) Primary biliary cirrhosis (PBC) is well known to recur after liver transplantation (LT). The recurrence is usually subclinical and evident only on histological examination. Recently, a new entity of de novo autoimmune hepatitis (AIH) has emerged that occurs after LT in patients who underwent transplantation for diseases other than AIH. This new condition occurs more often in children; however, there was a recent report of the first 2 cases in adults who originally underwent LT for PBC. We report the first case of concurrent de novo AIH and recurrence of PBC documented on the liver biopsy of an adult patient who underwent LT for end-stage PBC. Unlike the earlier report of 2 adults, our patient manifested an antinuclear antibody titer of more than 1/800 from a previously negative titer pre-LT, as well as fulfilled the International AIH Group criteria for a definite diagnosis of AIH. PBC recurrence was evidenced by typical florid duct lesion, antimitochondrial antibody titer increasing from 1/40 to greater than 1/800, and an elevated serum immunoglobulin M level. After the addition of azathioprine to baseline immunosuppression of tacrolimus and prednisolone, the patient responded rapidly, with complete normalization of liver test results. [source] Analysis of clinical and molecular characteristics of Wiskott,Aldrich syndrome in 24 patients from 23 unrelated Chinese familiesPEDIATRIC ALLERGY AND IMMUNOLOGY, Issue 3 2010Zhi-Yong Zhang Zhang Z-Y, Xiao H-Q, Jiang L-P, Zhou Y, Zhao Q, Yu J, Liu W, Yang X-Q, Zhao X-D. Analysis of clinical and molecular characteristics of Wiskott,Aldrich syndrome in 24 patients from 23 unrelated Chinese families. Pediatr Allergy Immunol 2010: 21: 522,532. © 2010 John Wiley & Sons A/S The clinical data of 24 children with Wiskott,Aldrich syndrome (WAS) from 23 unrelated Chinese families were reviewed in the present study. WAS protein (WASP) expression in peripheral blood mononuclear cells was examined by flow cytometry (FCM); WASP gene was amplified by PCR and directly sequenced to analyze mutations in the WASP gene in patients and their female relatives. FCM analysis of 21 patients showed that 18 cases were WASP-negative, and three had partially WASP expression. WASP gene analysis revealed mutations in 23 patients, including five missense mutations, four nonsense mutations, four deletion mutations, three insertion mutations, six splice site mutations, and one complex mutation, among which, 20 unique mutations were detected, including seven novel mutations (168 C>A, 747,748del T, 793,797del C, 1185 ins C, Dup 1251,1267, 1277 insA and 1266 C>G; 1267,1269del C). Five WAS children underwent stem cell transplantation. After 2 months of transplantation, WASP expression was restored to normal in all five patients whereas one patient died of cytomegalovirus-induced interstitial lung disease. WASP gene analysis can make a definite diagnosis of WAS and identify mutation carriers, beneficial for timely treatment and genetic counseling for children with WAS. [source] Serum biomarkers of hepatitis B virus infected liver inflammation: A proteomic studyPROTEINS: STRUCTURE, FUNCTION AND BIOINFORMATICS, Issue 5 2003Qing-Yu He Abstract Hepatitis B virus (HBV), a serious infectious and widespread human pathogen, represents a major health problem worldwide. Chronic HBV infection has a very high risk of evolving into hepatocellular carcinoma. Although considerable progress was made during the recent past, the pathogenesis of HBV infection is still elusive and a definite diagnosis of HBV infected liver information still relies on biopsy histological test. In this report, we used proteomics technology to globally examine HBV infected serum samples aiming at searching for disease-associated proteins that can be used as serological biomarkers for diagnosis and/or target proteins for pathogenetic study. By comparing with normal and HBV negative serum samples, we found that at least seven proteins were significantly changed in HBV infected sera. These greatly altered proteins were identified to be haptoglobin , and ,2 chain, apolipoprotein A-I and A-IV, ,1-antitrypsin, transthyretin and DNA topoisomerase II,. The alteration of these proteins is displayed not only in quantity but also in patterns (or specificity), which can be correlated with necroinflammatory scores. In particular, apolipoprotein A-I presents heterogeneous change in expression level with different isoforms and ,1-antitrypsin produces evidently different fragments implying diverse cleavage pathways. These unique phenomena appear specific to HBV infection. A combination simultaneously considering the quantities and isoforms of these proteins could be a useful serum biomarker (or index) for HBV diagnosis and therapy. [source] Peripheral T-cell lymphoma with diffuse pulmonary infiltration and an increase in serum KL-6 levelRESPIROLOGY, Issue 3 2007Tomoyuki FUJISAWA Abstract: Peripheral T-cell lymphoma is a subtype of non-Hodgkin's lymphoma. A case of peripheral T-cell lymphoma showing diffuse pulmonary involvement together with a marked increase in the level of serum KL-6 is presented. CXR and CT revealed reticular and ground-glass opacities, which mimicked interstitial pneumonia. Immunopathological findings and an analysis of T-cell receptor gene rearrangements of the lung biopsy specimen led to a definite diagnosis of peripheral T-cell lymphoma. In addition, the extensive proliferation of type II pneumocytes, which stained strongly positive for anti-KL-6 antibody suggested that the pneumocytes were the source of serum KL-6. [source] Acute leukemia: Diagnosis improved by flow cytometry in addition to morphologyASIA-PACIFIC JOURNAL OF CLINICAL ONCOLOGY, Issue 1 2009Manju SENGAR Abstract Aims: Immunophenotyping using flow cytometry (FCM) has become an essential component of acute leukemia (AL) diagnosis. This study evaluated the judicious application of FCM as an adjunct to well-informed morpho-cytochemical assessment in patients with acute leukemia. Methods: 100 untreated patients with AL were studied using morpho-cytochemistry and immunophenotyping through FCM. Results: There were 29 patients with acute myeloid leukemia (AML), 47 with B-acute lymphoblastic leukemia (ALL), 20 with T-acute lymphoblastic leukemia (ALL) and four with biphenotypic acute leukemia (BAL). Morpho-cytochemistry without FCM could provide definite diagnosis only in the AML cases. It failed to provide definite diagnosis in ALL patients. Over half (55%) of ALL patients were given the noncommittal label, AL. The remaining 45% patients were labeled a more definite, probable ALL. Conclusion: FCM thus had a role to play in ALL patients to confirm a definite and a probable diagnosis, to define therapeutically and prognostically groups such as B and T lineage ALL and to distinguish AML , M0 from ALL. FCM helps in diagnosing AML cases as well, but is a less essential mode of investigation in this group purely from the perspective of the therapy regime. But its role in defining different subgroups in AML is its major use. While morpho-cytochemistry provides a first-line investigation of great therapeutic value, and more so in AML, it needs to be supplemented by flow cytometry, particularly in ALL. [source] The diagnostic protocol in children and adolescents with syncope: a multi-centre prospective studyACTA PAEDIATRICA, Issue 5 2009Qingyou Zhang Abstract Aim: The appropriate diagnostic protocol for children with syncope has not been well established. A diagnostic protocol was developed and prospectively implemented to improve the diagnostic performance of paediatricians. Methods: The study population included 474 consecutive patients (range 6,17 years) presenting with a syncopal spell in one of the five participating hospitals of China. In step 1, all patients underwent initial evaluation for history, physical examination, standing test and standard electrocardiography (ECG). In step 2, priority was given to cardiographic tests for possibly cardiogenic syncope, or electroencephalographic examination and brain imaging for suspected neurological syncope, or psychiatric tests for suspected psychiatric syncope. Patients with unexplained syncope underwent head-up tilt testing (HUT). Results: The initial evaluation gave a definite diagnosis in 59 (12.4%) and possible diagnosis in 54 of the 474 patients. Further testing gave a definite diagnosis for 326 patients (69.7%). After the entire diagnostic protocol, definite diagnosis was established in 385 patients (81.1%). Autonomic-mediated reflex syncope (AMS) accounted for 73.0% of cases. The average cost of diagnostic results per patient was RMB 1030.24 ± 150.09 ($118.42 ± 17.25). Conclusion: The use of a simplified diagnostic protocol for children and adolescents with syncope improves diagnostic yield. [source] Mortality among persons with a history of Kawasaki disease in Japan: Can paediatricians safely discontinue follow-up of children with a history of the disease but without cardiac sequelae?ACTA PAEDIATRICA, Issue 4 2005Yosikazu Nakamura Abstract Aim: To clarify the question of whether patients with Kawasaki disease suffer a higher mortality rate after the incidence of the disease in comparison with age-matched healthy individuals. Methods: Between July 1982 and December 1992, 52 collaborating hospitals collected data on all patients having a new, definite diagnosis of Kawasaki disease. Patients were followed up until 31 December 2001 or their death. The expected number of deaths was calculated from Japanese vital statistics data and compared with the observed number. Results: Of 6576 patients enrolled, 29 (20 males and 9 females) died. The standardized mortality ratio (SMR: the observed number of deaths divided by the expected number of deaths based on the vital statistics in Japan) was 1.15 (95% CI: 0.77,1.66). In spite of the high SMRs during the acute phase, the mortality rate was not high after the acute phase for the entire group of patients. Although the SMR after the acute phase was 0.75 for those without cardiac sequelae, six males (but none of the females) with cardiac sequelae died during this period; and the SMR for the male group with cardiac sequelae was 1.95 (95% CI: 0.71,4.25). The mortality from congenital anomalies of the circulatory system was elevated, but no increase in cancer deaths was observed. Conclusion: Although it was not statistically significant, the mortality rate among males with cardiac sequelae due to Kawasaki disease appeared to be higher than in the general population. On the other hand, the mortality rates for females with the sequelae and both males and females without sequelae were not elevated. [source] |