Clinical and Laboratory Characteristics and Prognostic Analysis of 40 Cases of Extranodal NK/T-cell Lymphoma

SAT0486 Macrophage Activation Syndrome and Familial Hemophagocytic Lymphohistiocytosis: Is Their Clinical Phenotype Really Similar?

Corticosteroid Therapy in the Age of Infliximab: Acute and 1-Year Outcomes in Newly Diagnosed Children With Crohn’s Disease

Clinical features of Systemic Lupus Erythematosus (SLE) worsens when it involves kidneys. Even then in our socioeconomic context the patients who seek admission are usually at later stages. Moreover histological classes may not be previewed by clinical and laboratory features. The aim of the study is to show variation of clinical features and laboratory findings in relation to pathological classes of Lupus nephritis. It was a cross sectional descriptive study enrolling 30 female patients admitted in medicine and nephrology department of Chittagong Medical College. Majority of the patients are of age range 21-40 years (73%); belonging to middle class family (90%) and educated upto level of secondary school certificate (43%). Oedema (93%), normotension (73%) and anaemia (93%) are common clinical features. Though all patients had macroscopic proteinuria only 20 % patients had massive proteinuria (>3gm%). Serologically Nineteen patients are ANA positive (63%) and all patients had Anti-dsDNA positivity. Class III and Class IV comprises 70% of patients. Estimated Glomerular filtration rate (eGFR) is more in class V ( mean 77.77) and class III (mean 76.86) than class II ( mean 52.67) and class IV ( mean 59.95) signifying eGFR cannot estimate severity. In conclusion without renal biopsy Lupus nephritis class cannot be ascertained and so class specific management cannot be given.
 JCMCTA 2012 ; 23 (2): 34-37

ObjectiveThe objective of this study was to investigate the clinical characteristics and analysis of related factors associated with early death in newly diagnosed patients with acute promyelocytic leukemia (APL).MethodsThis retrospective study included patients who visited our hospital between January 2010 and August 2022 and were diagnosed with APL for the first time. We analyzed their clinical and laboratory characteristics and analysis of related factors associated with early death.ResultsA total of 269 patients with a primary diagnosis of APL were collected. The male to female ratio was 6:5, and the median age was 42 years (range 7–80). Among patients with initial APL diagnosis, there were 34 early deaths, resulting in an early mortality rate of 13%. The median time from diagnosis to death was 8.5 days (range 3–24). Comparative analysis of the clinical characteristics between patients who died early and those who did not, using a logistic regression model, revealed that age, white blood cell count (WBC) at initial diagnosis, and prolongation time of prothrombin time (PT) were independent risk factors for early death in patients with primary APL (P < 0.05). Comparing the clinical characteristics during hospitalization between the early death group and the non-early death group, it was observed that the daily mean of WBC during hospitalization was significantly higher in patients who died early than in those who did not (P < 0.001). Conversely, the daily mean of platelet count (PLT) was significantly lower in patients who died early compared to those who did not (P < 0.001). Furthermore, statistically significant differences were found in the mean daily infusion of PLT (P < 0.05), fibrinogen (Fib) (P < 0.05), and fresh frozen plasma (FFP) (P < 0.05) during hospitalization between patients who died early and those who did not. Specifically, the mean daily infusion of PLT and FFP was significantly higher in the early-death group than in the non-early-death group. Cerebral hemorrhage was identified as the immediate cause of death in 25 out of the 34 early-death patients (74%). The remaining causes of death included infection in 5 cases (15%), all of which were severe pulmonary infections, including 2 cases of combined differentiation syndrome, and abandonment of treatment in 4 patients (11%) at initial diagnosis.ConclusionIn patients with primary APL, age, WBC at initial diagnosis, and PT prolongation time were identified as independent risk factors for early death (P < 0.05). Laboratory findings regarding WBC and PLT during hospitalization, as well as the infusion of PLT, Fib, and FFP during hospitalization, were also statistically significant. Cerebral hemorrhage was found to be the main cause of early death in patients with primary APL.

BackgroundHAdV is one of the common pathogens in hospitalized children with acute respiratory infections (ARIs). We aim to describe the clinical and laboratory features, epidemiological characteristics, and HAdV species and/or types of inpatients with HAdV respiratory infections.MethodsRespiratory samples were gathered from inpatients diagnosed ARIs in Children’s Hospital, Zhejiang University School of Medicine, and were detected by using Direct Immunofluorescence Assay from 2018 to 2019. PCR amplification and sequencing of the hypervariable zone of hexon gene were used for genotyping. The clinical and laboratory features, and HAdV genotyping, and epidemiological characteristic analysis were retrospectively performed.ResultsOf 7072 samples collected, 488 were identified as HAdV-positive. The overall detection rate was 6.9%. The peaked detection rate was 14.1% in January 2019. HAdV-positive cases with ARIs mainly appeared in winter. The detection rate was highest among children between 6 months and 2 years (8.7%, 123/1408). Clinical diagnosis included pneumonia (70.3%, 343/488), bronchitis (7.0%, 34/488) and acute upper respiratory tract infection (22.7%, 111/488). The common clinical manifestations were fever (93.4%, 456/488), cough (94.7%, 462/488), wheezing (26.2%, 128/488), and shortness of breath (14.8%, 72/488). 213 (43.6%) cases had co-infection and 138 (28.3%) cases had extrapulmonary symptoms. 96(19.7%) cases had intrapulmonary and intrathoracic complications.78 (16.0%) had an underlying condition, most of which were congenital heart diseases (20.5%, 16/78). The proportions of hyperpyrexia, duration of fever > 10 days, severe pneumonia, and wheezing in the co-infection group were remarkably higher than those in HAdV single-infection group (all p < 0.05). The proportions of duration of hospitalization, duration of fever > 10 days, wheezing, shortness of breath, change in level of consciousness, serosal fluids, extrapulmonary symptoms, co-infections and underlying diseases were significantly higher in severe pneumonia group than those in the mild pneumonia group (all p < 0.05). Four HAdV species were successfully identified in 155 cases and presented by 8 genotypes. HAdV-B3 (56.1%, 87/155) and HAdV -B7 (31.0%, 48/155) were the most predominant detected types and occurred commonly in different severity groups (p = 0.000), while, HAdV-B55 was detected only in the severe group. HAdV-B7’s detection rate in the severe pneumonia group was significantly higher than the non-severe pneumonia group.ConclusionHAdV detection rate is related to age and season. Bronchopneumonia accounts for about 70% HAdV-positive inpatients. The common clinical manifestations include hyperpyrexia, cough, wheezing, and shortness of breath. HAdV-B3 and HAdV-B7 are the most common types in children diagnosed with respiration infections.

To analyze the laboratory and clinical features and prognosis of patients with acute lymphoblastic leukemia (ALL) and 11q23/MLL gene rearrangement. A total of 725 patients with ALL were enrolled. The 11q23/MLL gene rearrangement and its partner genes were detected. The clinical and laboratory features and prognosis of patients with MLL gene rearrangement were analyzed. MLL gene rearrangement was detected in 42 cases (5.8%) of the patients, with the dominant immunophenotype being pro-B-ALL. Among the partner genes, the MLL/AF4 was the most common. Compared with the non-MLL/AF4 group, the MLL/AF4 group had higher white blood cell and immature cell counts. No significant difference was found in complete remission and 1-year overall survival (OS) rates between the two groups (P> 0.05). Compared with the non-MLL/AF4 group, the MLL/AF4 group had a higher recurrence rate (P<0.05) and a lower 3-year OS rate (P<0.05). Compared with the untransplantation group, the transplantation group had higher 2-year OS and progress free survival rates (P<0.05). Multivariate analysis suggested age ≤1 year, MLL/AF4 positive, early recurrence, and allogeneic hematopoietic stem cell transplant (Allo-HSCT) to be independent factors which can influence the survival of ALL patients with 11q23/MLL rearrangement (P<0.05). MLL/AF4 is the most common partner gene for 11q23/MLL gene rearrangement. This type of leukemia is mainly pro-B-ALL. Although conventional chemotherapy can achieve certain rate of remission, it is easy to relapse and the prognosis is very poor. Allo-HSCT may improve the prognosis.

AB1065 Diagnosing gout without joint fluid aspiration: A systematic literature review using monosodium urate crystals as a reference standard

Autoimmune hepatitis (AIH) is a chronic disease of unknown etiology, which usually progresses to cirrhosis if not diagnosed and treated promptly. Data on long-term follow up in children with AIH are scant. The aim of this study is to assess the long-term outcome of autoimmune hepatitis in children with respect to clinical and laboratory features at presentation. Data were extracted from the medical records of patients presenting over a 28-year period (1972-2000) to the Royal Children's Hospital, Melbourne, Australia. Additional information was obtained by interviewing patients, and their current physicians. Of the 30 patients (22 females, mean age 9 years) identified, 18 had type I, three had type II, four had autoimmune-polyendocrinopathy syndrome type 1, one had infantile giant-cell hepatitis associated with Coomb's-positive hemolytic anemia, and four were seronegative (antinuclear antibody (ANA), smooth muscle antibody (SMA) and liver-kidney microsomal antibody (LKM)). Clinical features at presentation included hepatomegaly (86%), jaundice (66%) and splenomegaly (50%). Initial investigations revealed a median serum bilirubin level of 55 micromol/L (range 6-425), median aspartate aminotransferase level of 678 IU (range 70-2548), and abnormal clotting in 33% of patients. Liver biopsies were performed on all patients at presentation and 11 showed cirrhosis (36%). The mean follow-up period was 10.0 +/- 7.8 years with 43% being followed for > 10 years. Only two patients died and one required transplantation. Fourteen (50%) patients continue to be on low dose prednisolone with azathioprine, two (7%) are on prednisolone alone, and six (21%) are on no therapy. When the cirrhotic and non-cirrhotic patients were compared, the albumin level at presentation was significantly lower in the cirrhotic group (P=0.01). Of the patients who were cirrhotic at presentation, six (54%) remain compensated with a mean follow-up period of 8 years. All 24 patients currently under follow up are engaged in age-appropriate activities including school, part- or full-time work. Autoimmune hepatitis has a favorable long-term outcome with a transplant-free survival rate of 90% over a mean period of 10.0 +/- 7.8 years (range: 0.5-23), and a normal or near-normal lifestyle irrespective of presenting clinical, laboratory or histological features.

The classification of early onset (< 30 years old) patients with diabetes mellitus (DM) as either type 1 diabetes (T1D) or type 2 diabetes (T2D) can be a challenge due to their similar overlapping phenotypes. In this study, we attempted to utilize various clinical and laboratory characteristics in combination with immunological factors in the blood to determine whether it would be possible to distinguish and more accurately characterize our patients as T2D. Electronic medical records were evaluated to obtain information categorized as either early onset patients with DM (n = 102) and patients with T1D (n = 89). Using the stored serum from these patients, autoantibodies of anti-insulinoma associated 2 (IA2), anti-zinc transporter 8 (ZnT8) and anti-glutamic acid decarboxylase antibody (GAD) were measured. In the clinical characteristics, early onset patients with DM (n = 102) were younger (31.7 ± 7.0 years old, P < 0.01), more overweight (28.1 ± 5.5 kg/m², P < 0.05), shorter duration of diabetes (10.4 ± 7.3 years, P < 0.01) and a more prevalent family history of diabetes (81%, P < 0.01) than patients with T1D. The laboratory values from early onset patients with DM exhibited lower glycated hemoglobin A1c (8.0 ± 2.1%, P < 0.01) and glucose levels (165 ± 73 mg/dL, P < 0.01) with conversely higher C-peptide levels (2.2 ± 1.2 ng/mL, P < 0.01). Measurements of immunological factors, demonstrated that the prevalence of anti-ZnT8 (2%) and anti-GAD antibody (2%) in early onset patients with DM was significantly lower (P < 0.01) compared to patients with T1D (13% for anti-ZnT8 and 38% for anti-GAD). The prevalence of anti-IA2 was not significantly different between early onset patients with DM (13%) versus patients with T1D (11%). In the multivariate logistic regression analysis, C-peptide level (B, 4.453; standard error [SE], 0.844; Wald, 27.808; P < 0.001) was the strongest independent factor to distinguish early onset patients with DM as T2D. After adjusting C-peptide level, family history of diabetes (B, 0.830; SE, 0.420; Wald, 3.909; P = 0.048), body mass index (BMI) (B, 0.111; SE, 0.039; Wald, 8.167; P = 0.004) and the relative negative status of anti-GAD (B, -2.041; SE, 0.597; Wald, 11.670; P < 0.001) were determining factors in our analyses. In this study, our findings suggested that early onset patients with DM may be more accurately diagnosed as T2D if they have a compilation of elevated C-peptide levels, higher BMI, more prevalent history of familial diabetes and the absence of detecting anti-GAD antibodies.

THU0337 Nonbacterial thrombotic endocarditis (NBTE) in sle: prevalence, clinical characteristics and serological profile

The aim of this study was to assess correlations between demographic, clinical and laboratory characteristics and the risk of serious bacterial infection (SBI) in febrile <90-day-old infants. Medical records of all infants younger than 90 days old hospitalized at Dana-Dwek Children's Hospital (2006-2008) for evaluation of fever were retrospectively reviewed. Data on clinical, laboratory and demographic characteristics were retrieved and evaluated. Forty-eight of the 401 study infants (12%) had SBI: most of them had urinary tract infection (43 infants; 90% of all SBI), three infants had bacteremia, one had bacterial pneumonia and one had bacterial meningitis. Significant independent clinical predictors for the diagnosis of SBI included duration of fever, absence of rhinitis and the absence of lung and skin manifestations. Significant independent laboratory predictors were absolute neutrophil count (ANC), platelets, blood urea nitrogen and C-reactive protein (CRP) level. On receiver operating characteristic curve analysis, the CRP area under the curve (0.819) was significantly superior to ANC and leukocyte count. Of the clinical and laboratory variables selected for evaluation, qualitative CRP was the strongest independent predictor for diagnosing SBI and a significantly better diagnostic marker than clinical characteristics, ANC and white blood cell count.

To evaluate the association between severity of hepatic steatosis/fibrosis with clinical, laboratory, and echocardiographic characteristics, including visceral obesity and type 2 diabetes mellitus (T2DM)-related micro- and macrovascular complications in diabetic patients with non-alcoholic fatty liver disease (NAFLD). We studied 60 consecutive NAFLD outpatients with T2DM, recording several demographic and clinical characteristics, trunk and visceral fat, cardiac ultrasound, and micro- and macrovascular complications of diabetes mellitus including microalbuminuria, diabetic peripheral neuropathy, peripheral vascular disease, and cardiac autonomic function. Severity of steatosis and fibrosis was evaluated with abdominal ultrasound and liver stiffness measurements, respectively. Twenty-three (41%) of the patients had grade 1 steatosis and mean liver stiffness was 7.5 ± 3kPa. After applying Bonferroni correction for multiple comparisons, ferritin concentration was the only factor significantly different between patients with mild (grade 1) compared to those with moderate/severe (grade 2/3) steatosis and showed good discriminative ability for the presence of moderate/severe steatosis (AUC: 0.74, sensitivity 88%, specificity 48%, PPV 74%, and NPV 72%). In addition, waist circumference was the only factor associated with the presence of significant fibrosis (≥ F2) with very good discriminative ability (AUC: 0.77, sensitivity 89%, specificity 45%, PPV 75%, and NPV 70%). Specific clinical and laboratory characteristics, which may be determined via widely accessible and noninvasivetechniques, were associated withseverity of diabetics NAFLD, taking into account echocardiographic characteristics, visceral obesity, and T2DM-related systemic complications.

BackgroundThe diagnosis of meningitis in nonsurgical hospitalised patients is often difficult and diagnostic accuracy of clinical, laboratory, and radiological characteristics is unknown. MethodsIn a prospective multi-centre cohort study in the Netherlands with adults suspected of central nervous system (CNS) infections, we included consecutive patients who underwent a lumbar puncture for the suspicion of a nonsurgical nosocomial CNS infection. All episodes were categorized into five final clinical diagnosis categories, as reference standard: CNS infection, CNS inflammatory disease, systemic infection, other neurological disease, or non-systemic, non-neurological disease. Diagnostic accuracy of clinical characteristics, the index test, was assessed by determining sensitivity, specificity, and positive and negative predictive values (PPV; NPV). ResultsBetween 2012-2022, 114 of 1275 (9%) patients included in the cohort had suspected nonsurgical nosocomial CNS infection. Sixteen (14%) patients had a confirmed diagnosis of nonsurgical nosocomial CNS infection, including 4 (25%) with bacterial meningitis, 9 (56%) with viral CNS infections, 2 (13%) fungal meningitis and 1 (6%) parasitic meningitis. Diagnostic accuracy of individual clinical characteristics was generally low. Elevated CSF leukocyte count had the highest sensitivity (81%; 95% CI 54-96) and NPV (96%; 95% CI 90-99). When combining the presence of abnormalities in neurological or CSF examination, sensitivity for diagnosing a CNS infection was 100% (95% CI 79-100) and NPV 100% (95% CI 78-100). CSF examination changed clinical management in 47% of patients. ConclusionOf patients suspected of nonsurgical nosocomial CNS infections, 14% were diagnosed with such infections. Diagnostic accuracy for individual clinical characteristics was low, with elevated CSF leukocyte count having the highest sensitivity and NPV.

Objective To explore the clinical and laboratory features, and gene diagnosis method of Menkes disease(MD). Methods The clinical and laboratory features and gene diagnosis method of 2 infants with MD were reviewed. Results (1)Clinical features: both infants mentioned in this article were male.Their clinical manifestations were both began at 3-4 months age, including peculiar kinky hair, pale skin, pudgy cheeks, inguinal hernia, vessel abnormality, epilepsy and mental retardation.(2)Laboratory features: the ceruloplasmin concentrations significantly reduced to be T.The pathogenicity of this mutation had not been reported previously at home and abroad.The sequencing of the gene panel without pathogenic mutation was detected in case 2.But the multiplex ligation-dependent probe amplification test showed a gross deletion of ATP7A gene containing 8-12 exons.This mutation had been documented as a pathogenic mutation of MD.Both mothers of 2 patients were heterozygous mutation car-riers of normal phenotype. Conclusions MD is a multisystemic disease caused by ATP7A gene mutation resulting in copper metabolism disorder.MD is inherited as an X-linked recessive trait.MD is characterized by kinky hair, connective tissue abnormalities and progressive neurodegeneration.Clinical diagnosis can be made on the basis of clinical features, findings of blood biochemical examination, and radiological findings.Gene sequencing and multiplex ligation-dependent probe amplification test are the main technique widely used for genetic diagnosis. Key words: Menkes disease; Ceruloplasmin; ATP7A; Multiplex ligation-dependent probe amplification

FRI0403 Heart Valvular Involvement in the Antiphospholipid Syndrome. An Echocardiographic Descriptive Study