Significant Differences In Clinical Manifestations Research Articles

Emergency department evaluation of transplanted children with COVID-19

BackgroundChildren usually have an asymptomatic or mild course of SARS-CoV-2 infection, studies in immunocompromised patients have shown a different evolution. The aim of this study was to describe the clinical, laboratory, and radiologic manifestations of pediatric solid organ transplant (SOT) and hematopoietic stem cell transplant (HSCT) patients testing positive for SARS-CoV-2. MethodsA multicenter retrospective, observational descriptive study was conducted in 3 tertiary hospitals in Madrid (Spain) between March 2020 and December 2022. Consecutive patients aged 0–18 attending the corresponding pediatric emergency departments with a positive result in the real-time polymerase chain reaction test or antigenic test to detect SARS-CoV-2 in the nasopharyngeal sample were included. ResultsA total of 31 children were included in the study. Sixteen (51.6%) were patients with HSCT and 15 (48.3) were patients with SOT. The median time from transplantation to COVID-19 was 1.2 years (IQR:0.5–5.1). The SOT cohort included liver (n = 4, 12.9%), kidney (n = 4, 12.9%), heart (n = 3, 9.7%), multivisceral (n = 3, 9.7%), and lung (n = 1, 3.2%). Of the 31 patients, only one was asymptomatic. The most common symptom on presentation was fever (76.7%). Abnormalities were seen on chest X-ray in 8 (66.6%) of the 12 patients. There was no significant difference in clinical manifestations, lymphopenia and radiological findings regardless of the type of transplantation or immunosuppression status. Thirteen patients (41.9%) were hospitalized. There were no patient deaths. ConclusionsIn our study, we found that the clinical course and outcome of SOT and HSCT pediatric patients with COVID-19 were generally favorable.

2661. Characterization of Mpox in Southeast Michigan

Abstract Background More than 30,000 cases of mpox have been identified in the United States. Data suggest that about 40% of affected persons are co-infected with HIV. Although most cases are self-limiting, patients with low CD4 counts are at increased risk of developing severe clinical manifestations and dying. Methods Retrospective case-control study comparing mpox cases among people with HIV (PWH) and HIV-uninfected persons from July to Dec 2022, at Henry Ford Health in Southeast Michigan. Demographic data, clinical characteristics, treatment, and outcomes were evaluated. Results 54 patients were diagnosed with mpox. Overall, 42 (78%) were MSM or bisexual men, 36 (67%) Black, and 34 (63%) PWH; median age was 34.5 years (Table 1). The majority (63%) had prior sexually transmitted infections (STIs), which were more common in PWH (82% vs 30%, p< 0.001). About one-third had multiple sexual partners; more than half engaged in insertive or receptive anal intercourse. 32 (94%) of PWH were on ART, 26 (76%) had CD4 counts >200 and 19 (60%) had undetectable viral load; mean CD4 count was 602 and viral load 7942. Of the HIV-uninfected persons, 5 (25%) were on PrEP. Receipt of mpox vaccine was uncommon in either group. All patients presented with rash that was disseminated in 35%. Fever/chills, lymphadenopathy, headache, proctitis and pharyngitis were the most common manifestations and did not differ among the two groups. Concomitant STIs were present in 22 (48%) of 46 persons tested; syphilis co-infection was more prevalent among PWH (35% vs 25%, p< 0.006). Hospitalization and receipt of tecovirimat were similar between the two groups; no patients died. Demographics, Risk Factors, Clinical Manifestations and Outcomes of Mpox Patients Conclusion Overall, there were no significant differences in clinical manifestations or outcomes between PWH and HIV-uninfected persons with mpox except for syphilis co-infection. Most of our PWH cohort was on ART and virally suppressed with high CD4 count. Hence, efforts should focus on rapid treatment of PWH with effective ART to achieve virological suppression and immunological recovery to minimize clinical complications and severe outcomes associated with opportunistic pathogens. Vaccinating all high-risk individuals, early mpox recognition and testing, and screening for additional STIs should be prioritized. Disclosures Indira Brar, MD, Gilead: Advisor/Consultant|Gilead: Grant/Research Support|Gilead: Honoraria|Janssen: Grant/Research Support|Janssen: Honoraria|ViiV: Advisor/Consultant|ViiV: Grant/Research Support|ViiV: Honoraria

Implications of combined NOD2 and other gene mutations in autoinflammatory diseases.

NOD-like receptors (NLRs) are intracellular sensors associated with systemic autoinflammatory diseases (SAIDs). We investigated the largest monocentric cohort of patients with adult-onset SAIDs for coinheritance of low frequency and rare mutations in NOD2 and other autoinflammatory genes. Sixty-three patients underwent molecular testing for SAID gene panels after extensive clinical workups. Whole exome sequencing data from the large Atherosclerosis Risk in Communities (ARIC) study of individuals of European-American ancestry were used as control. Of 63 patients, 44 (69.8%) were found to carry combined gene variants in NOD2 and another gene (Group 1), and 19 (30.2%) were carriers only for NOD2 variants (Group 2). The genetic variant combinations in SAID patients were digenic in 66% (NOD2/MEFV, NOD2/NLRP12, NOD2/NLRP3, and NOD2/TNFRSF1A) and oligogenic in 34% of cases. These variant combinations were either absent or significantly less frequent in the control population. By phenotype-genotype correlation, approximately 40% of patients met diagnostic criteria for a specific SAID, and 60% had mixed diagnoses. There were no statistically significant differences in clinical manifestations between the two patient groups except for chest pain. Due to overlapping phenotypes and mixed genotypes, we have suggested a new term, "Mixed NLR-associated Autoinflammatory Disease ", to describe this disease scenario. Gene variant combinations are significant in patients with SAIDs primarily presenting with mixed clinical phenotypes. Our data support the proposition that immunological disease expression is modified by genetic background and environmental exposure. We provide a preliminary framework in diagnosis, management, and interpretation of the clinical scenario.

Clinical characteristics and outcomes of patients with COVID-19 and tuberculosis coinfection

Background Data on the coincidence of Tuberculosis (TB) and Coronavirus disease 2019 (COVID-19) are limited. We sought to investigate the clinical characteristics and outcomes of coinfected patients in Henan and identify whether TB disease is associated with an increased risk of intensive care unit (ICU) admission and mortality. Method We conducted a retrospective matched cohort study of COVID-19 inpatients involving 41 TB-positive patients with 82 patients without TB. Leveraging data was collected from electronic medical records. Results There were no significant differences in clinical manifestations, the need for mechanical ventilation and vasopressors, ICU admission, or in-hospital mortality between 2 groups. TB-positive patients had a lower lymphocyte counts (1.24 ± 0.54 vs. 1.59 ± 0.58, p = 0.01), B cells (99/µl vs. 201/µl, p < 0.01), CD4+ T cells (382/µl vs. 667/µl, p < 0.01), CD8+ T cells (243/µl vs. 423/µl, p < 0.01), NK cells (145/µl vs. 216/µl, p = 0.01), IL-2 (14.18 ± 11.23 vs. 31.86 ± 34.55, p < 0.01) and TNF-α (3.42 ± 2.93 vs. 5.62 ± 3.69, p < 0.01). Notably, the TB-positive group had a longer duration of SARS-CoV-2 shedding (67 days vs. 22 days, p < 0.01). Conclusions Concomitant TB does not significantly impact clinical outcomes of hospitalised patients with acute COVID-19. However, TB-positive patients had longer duration of SARS-COV-2-RNA positivity.

Clinical Outcomes and Genetic Analyses of Restrictive Cardiomyopathy in Children.

Restrictive cardiomyopathy in children is rare and outcomes are very poor. However, little information is available concerning genotype-outcome correlations. We analyzed the clinical characteristics and genetic testing, including whole exome sequencing, of 28 pediatric restrictive cardiomyopathy patients who were diagnosed from 1998 to 2021 at Osaka University Hospital in Japan. The median age at diagnosis (interquartile range) was 6 (2.25-8.5) years. Eighteen patients received heart transplantations and 5 patients were on the waiting list. One patient died while waiting for transplantation. Pathologic or likely-pathogenic variants were identified in 14 of the 28 (50%) patients, including heterozygous TNNI3 missense variants in 8 patients. TNNT2, MYL2, and FLNC missense variants were also identified. No significant differences in clinical manifestations and hemodynamic parameters between positive and negative pathogenic variants were detected. However, 2- and 5-year survival rates were significantly lower in patients with pathogenic variants (50% and 22%) compared with survival in patients without pathogenic variants (62% and 54%; P=0.0496, log-rank test). No significant differences were detected in the ratio of patients diagnosed at nationwide school heart disease screening program between positive and negative pathogenic variants. Patients diagnosed by school screening showed better transplant-free survival compared with patients diagnosed by heart failure symptoms (P=0.0027 in log-rank test). In this study, 50% of pediatric restrictive cardiomyopathy patients had pathogenic or likely-pathogenic gene variants, and TNNI3 missense variants were the most frequent. Patients with pathogenic variants showed significantly lower transplant-free survival compared with patients without pathogenic variants.

Enhancement of optic nerve sheath on MRI in idiopathic intracranial hypertension(IIH)

ObjectiveOptic nerve sheath(ONS) enhancement in idiopathic intracranial hypertension (IIH) patients has been reported in recent years. In this retrospective observation, we analyzed the clinical characteristics of IIH patients with enhancement of ONS. MethodsEighty-two patients with clinically diagnosed IIH from January 2017 to December 2019 were under observation. Then, based on the presence of contrast-enhancement (CE) in ONS on orbital magnetic resonance image (MRI), the IIH patients were divided into CE-ONS group and no-CE(NCE)-ONS group. Six months follow-up information was also included in the observation study. By comparing clinical data of the two groups of IIH patients, we tried to evaluate whether there is clinical heterogeneity in CE-ONS patients. Result12 patients were included in CE-ONS group, 10 females and 2 males. 70 patients were included in NCE-ONS group, 56 women and 14 men. We found that patients with CE-ONS had a longer course of disease (median disease duration before diagnosis, 5 months vs. 3months, P<0.01) and more likely had the sign of distension of the perioptic subarachnoid space (DPSS) (58.33 % vs. 24.29 %, P = 0.034). But no significant differences were found in demographic characteristics, clinical symptoms, degree of visual impairment, papilledema, opening pressure(OP) on lumbar puncture and clinical outcomes. ConclusionAs a rare sign on MRI, ONS enhancement can occur in patients with IIH. IIH patients with CE-ONS may have a longer course of disease and more prone to DPSS, but there is no significant difference in clinical manifestations, OP, and clinical outcomes compared with IIH patients without CE-ONS.

Improved differentiation between stage I-II endometrial carcinoma and endometrial polyp with combination of APTw and IVIM MR imaging

PurposeTo assess the value of amide proton transfer weighted (APTw) combined with intra-voxel incoherent motion (IVIM) imaging in differential diagnosis of stage I-II endometrial carcinoma (EC) and endometrial polyp (EP). MethodsA total of 53 female patients (37 cases with EC and 16 cases with EP) confirmed by surgical resection or biopsy from June 2019 to Jan. 2022 were retrospectively reviewed. All patients underwent 3.0 T magnetic resonance imaging (MRI) examination including diffusion weighted imaging (DWI), APTw and IVIM scans. The pure diffusion coefficient (D), pseudo-diffusion coefficient (D⁎), perfusion fraction (f), apparent diffusion coefficient (ADC) and APT values were independently measured by two observers. Intra-class correlation coefficients (ICC) were used to test the consistency of measurements by the two observers. Mann-Whitney U test was performed to analyze the difference of each parameter between EC and EP groups. Receiver operator characteristic (ROC) analysis was performed, and the Delong test was used for ROC curve comparison. Pearson's correlation analysis was used to assess the correlation between APTw and IVIM parameters. ResultsThere was no significant difference in clinical manifestations between the two groups (P > 0.05). APT and D⁎ values of the EC group were significantly higher than those of the EP group [APT: 2.64 ± 0.50% vs. 2.05 ± 0.58%; and D⁎: (54.06 ± 36.06) × 10−3 mm2/s vs. (30.54 ± 16.67) × 10−3 mm2/s]. D, f and ADC values of EC group were significantly lower than those of EP group [D: 0.62(0.53,0.76) × 10−3 mm2/s vs. (1.45 ± 0.48) × 10−3 mm2/s; f: 22.18 ± 8.08% vs. 30.80 ± 8.92%; and ADC: (0.88 ± 0.16) × 10−3 mm2/s vs. (1.57 ± 0.43) × 10−3 mm2/s]. The area under ROC curves were observed as: AUC (IVIM+APT) > AUC (D) > AUC (ADC) > AUC (APT) > AUC (f) > AUC (D⁎). Delong test suggested statistical significance between AUC by APT and D, D and D⁎, D and f, D⁎ and ADC, APT and com(IVIM+APT), D⁎ and com(IVIM+APT), as well as f and com(IVIM+APT). No significant correlation between the APT and IVIM parameters was observed in either EC or EP group. ConclusionBoth APT and IVIM parameters showed statistical differences between EC and EP. With combination of APT and IVIM parameters, the diagnostic accuracy between EC and EP can be significantly improved.

Genotype-phenotype analysis and prognosis in children with primary distal renal tubular acidosis

Objective: The purpose of this study was to investigate the relationship between genotypes and clinical phenotypes of primary distal renal tubular acidosis (dRTA) in children. Methods: Clinical information, genetic testing information and follow-up data (until March 2021) of children with dRTA from Children's Hospital of Chongqing Medical University (from January 2010 to December 2020) were analyzed retrospectively. According to different pathogenic genes, patients were divided into SLC4A1 gene and ATP6V0A4+ATP6V1B1 gene groups. Age at onset, clinical manifestations and laboratory findings were compared. Self-comparisons of height standard deviation score (HtSDS), weight standard deviation score (WtSDS), blood pH and serum potassium before and after treatment were tested. T-test, Fisher's exact test and rank sum test were used to analyze among groups. Results: Among 27 children with dRTA (16 boys and 11 girls), the age of onset was 33.4 (10.0, 36.0) months.There were 22 patients (81%) with SLC4A1 gene variation, 3 patients (11%) with ATP6V1B1 gene variation and 2 patients (8%) with ATP6V0A4 gene variation. Totally 22 patients (81%) with renal calcium deposition, 19 patients (70%) hypokalemia, 18 patients (67%) short stature, 16 patients (59%) malnutrition, 16 patients (59%) rickets, and 15 patients (56%) polydipsia and polyuria. Noteworthily, the genotyping results indicated that the age at onset in SLC4A1 gene group was older than that in ATP6V0A4+ATP6V1B1 gene group, with a statistically significant difference (27.3 (12.0, 36.0) vs. 8.2 (2.5, 15.0) months, H=6.33, P=0.012). However, there were no significant differences in clinical manifestations or laboratory test results (all P>0.05). Furthermore, the course of disease was 3.9 (1.3, 6.0) years and the follow-up period was 3.1 (1.0, 4.5) years in 27 patients. In addition, there were no significant differences in recovery rate of clinical manifestations and last laboratory findings between SLC4A1 gene group and ATP6V0A4+ATP6V1B1 gene group (all P>0.05). HtSDS and WtSDS of those patients significantly increased after treatment (-3.2±1.9 vs. -2.1±1.1, -2.5±1.5 vs. 0±1.9, t=-2.94, -5.44, both P<0.01). Serum K+ and blood pH were restored eventually ((3.2±0.5) vs. (4.0±0.5) mmol/L, 7.27±0.07 vs. 7.37±0.07, t=-4.92, -5.25, both P<0.01). Totally 14 patients had normalized serum potassium, 12 patients had normalized blood pH, but only 4 patients had normalized serum bicarbonate concentration and normal base excess. Conclusions: The age of onset of patients who had SLC4A1 gene mutation was older than that of patients with ATP6V0A4 gene and ATP6V1B1 gene mutations. However, there was no obvious correlation between the condition and prognosis of the dRTA patients and pathogenic genes. Early diagnosis, early treatment, regular follow-up and timely adjustment of the dosage of medication can significantly improve the prognosis of dRTA in children. Serum bicarbonate concentration and actual base excess might not be the necessory indicators to assess clinical recovery.

Longitudinal evaluation of clinical characteristics of Chinese neuromyelitis optica spectrum disorder patients with different AQP4-IgG serostatus

BackgroundAnti-aquaporin-4 antibody (AQP4-IgG) is a diagnostic marker of neuromyelitis optica spectrum disorder (NMOSD), but the relationship of different AQP4-IgG serostatus with clinical manifestations and recurrence of disease is still uncertain. ObjectiveWe attempted to observe the changes of AQP4-IgG serostatus and the differences of corresponding clinical manifestations between AQP4-IgG-positive (AQP4-IgG+) and AQP4-IgG-negative (AQP4-IgG−) patients during 36-month follow-up, and to explore the significance of AQP4-IgG serostatus in the pathogenesis of NMOSD. MethodsThe AQP4-IgG serostatus in eighty-four NMOSD patients during 36 months were re-checked regularly every 6 months in stable phase of the disease, and an additional AQP4-IgG test was performed when the disease relapsed. The clinical data were collected, including gender, age, clinical symptoms and signs, location and length of affected spinal cord segments, expanded disability status scale (EDSS), course of disease, annual recurrence rate (ARR), concomitant connective tissue disease (CTD) and other autoimmune antibodies. According to the change of AQP4-IgG serostatus during 36 months, the enrolled patients were divided into the various groups: with AQP4-IgG+ at the first diagnosis; with AQP4-IgG− at the first diagnosis; with persistent AQP4-IgG+; with persistent AQP4-IgG−; with conversion to AQP4-IgG−. The clinical characteristics of NMOSD patients among different groups were compared. ResultsEighty-four NMOSD patients (12 males and 72 females) were included in this study. For the patients with AQP4-IgG+ at the first diagnosis (60 patients, 71.4%), there were 29 patients (48.3%) continuously positive; 31 cases (51.7%) turned positive to negative while 9 cases (29.0%) turned positive again in which 7 cases (77.8%) coincided with recurrence. The re-positive change of AQP4-IgG was significantly correlated with the recurrence of the disease (P < 0.05); for the patients with AQP4-IgG− at the first diagnosis (24 patients, 28.6%), 19 patients (79.2%) remained negative, and 5 patients (20.8%) turned negative to positive in which 1 patient (20.0%) had a relapse. This conversion of AQP4-IgG serostatus had no significant correlation with the recurrence of the disease (P > 0.05). There was no significant difference in clinical manifestations between the AQP4-IgG+ and AQP4-IgG− group at the diagnosis, or between the persistent AQP4-IgG+ and persistent AQP4-IgG− group during thirty-six months (P > 0.05). The patients with persistent AQP4-IgG+ was more likely to accompany with other antibodies than those with conversion to AQP4-IgG− (P < 0.05), while no significant differences were found in the gross clinical characteristics. (P > 0.05). ConclusionsAQP4-IgG serostatus can fluctuate in the different phase of NMOSD. There is no significant difference in clinical characteristics between AQP4-IgG+ and AQP4-IgG− patients. The conversion of AQP4-IgG+ to AQP4-IgG− may not be an appropriate target for treatment, but patients who are AQP4-IgG+ turn positive again after conversion to negative need to be vigilant for the recurrence of the disease.

Clinical Presentation and Treatment outcomes of Benign Renal Tumor: Angiomyolipoma

Background: Angiomyolipoma (AML) is a benign renal neoplasm composed of abnormal blood vessels, smooth muscle cells, and adipose tissue. About 40% of AMLs present with acute severe hemorrhage and is a potentially life-threatening condition. The risk of bleeding is proportional to tumor size and increasing significantly with size above 4 cm. Therefore, the patients with AMLs of 4 cm or more or spontaneous rupture of AMLs need interventional or surgical treatment. Objective: To evaluate the clinical presentation and treatment outcomes of the AMLs. Materials and Methods: The present report was a retrospective analytic study of the medical records and imaging studies in Phramongkutklao Hospital between January 2002 and December 2019. Results: Sixty-three patients, with a female:male ratio of 47:6, and a median age of 54.76 years with a range of 8 to 84 years, were included in the present analysis. Seven (11.1%) had tuberous sclerosis complex (TSC) and 56 (88.9%) had sporadic. Fifty-four had a solitary lesion, whereas nine had bilateral lesions. Asymptomatic AMLs were 50 (79.4%) and symptomatic AMLs were 13 (20.7%). There were 46 (73.0%) AMLs smaller than 4 cm and 17 (27.0%) AMLs of 4 cm or larger. AMLs smaller than 4 cm were incidentally discovered (n=40, 87%) and revealed due to symptoms such as flank pain (n=3, 6.5%) and hematuria (n=3, 6.5%). AMLs of 4 cm or larger were incidentally discovered (n=10, 58.8%) and revealed due to symptoms such as flank pain (n=7, 41.2%) and not presented with hematuria. AMLs smaller than 4 cm were mostly treated by follow up (n=39, 84.78%) or surgery (n=7, 15.22). AMLs of 4 cm or larger were treated by follow-up (n=11, 64.7%) then converted to arterial embolization (n=4, 23.5%) and converted to surgery (n=8, 47.1%). Two AMLs of 4 cm or larger died (11.8%). Conclusion: Significant differences in clinical manifestations and treatment outcomes were noted in respect to tumor characteristics, association with TSC, and treatment modality. Considering the benign nature of AML, size, and association with TSC ought to be considered when deciding upon active surveillance or prophylactic intervention. Keywords: Angiomyolipoma; Tuberous sclerosis complex; Embolization; Nephrectomy

Clinical and molecular epidemiological characterization of rotavirus infections in children under five years old in Shandong province, China.

Rotaviruses are important causative agents of acute gastroenteritis in children. In China, rotavirus infection has a prevalence rate of 30% and is therefore considered a serious public health problem. This study was carried out to investigate the clinical and molecular epidemiological characteristics of rotavirus infections in children under 5 years old with acute diarrhea in Shandong province, China. From July 2017 to June 2018, a total of 1211 fecal specimens were tested, and the prevalence of rotavirus infection was 32.12%. The mean age of the infected children was 12.2 ± 10.9 months, and the highest infection rate was observed in children aged 7-12 months, with a rate of 41.64%. G9P[8] (76.61%) was the most prevalent genotype combination, followed by G2P[4] (7.20%), G3P[8] (3.60%), and G9P[4] (2.06%). In addition to diarrhea, vomiting, fever, and dehydration were the most common clinical signs. In general, there was no significant difference in clinical manifestations among different age groups. However, the clinical manifestations differed significantly between vaccinated and unvaccinated children. Vaccinated children showed lower incidence and frequency of vomiting, lower incidence and degree of dehydration, and lower incidence of severe cases than unvaccinated children. These findings suggest that it is necessary to continuously monitor changes in the characteristics of rotavirus infections. Moreover, the introduction of vaccines into the national immunization program to prevent and control rotavirus infection is needed in China.

Epidemiological characteristics of respiratory syncytial virus in hospitalized children with acute lower respiratory tract infection in Chongqing, China, from 2013 to 2018: an analysis of 2 066 cases

OBJECTIVE To study the detection rate, epidemic pattern, and clinical features of respiratory syncytial virus (RSV) in hospitalized children with acute lower respiratory infection (ALRI). METHODS Nasopharyngeal aspirates were collected from children with ALRI, aged < 2 years, who were hospitalized in Children's Hospital of Chongqing Medical University from June 2013 to May 2018. Multiplex PCR was used to detect 16 common respiratory viruses. The epidemiological characteristics of RSV were analyzed. RESULTS A total of 2 066 hospitalized children with ALRI were enrolled. Among the children, 1 595 (77.20%) tested positive for virus and 826 (39.98%) tested positive for RSV [410(49.6%) positive for RSV-A, 414 (50.1%) positive for RSV-B, and 2 (0.2%) positive for both RSV-A and RSV-B]. RSV-B was the main subtype detected in 2013-2014 and 2016-2017, while RSV-A was the main subtype in 2014-2015 and 2017-2018, and these two subtypes were prevalent in 2015-2016. The highest detection rate of RSV was noted in winter. RSV + human rhinovirus was the most common combination of viruses and was detected in 123 children. These children were more likely to develop wheezing than those with single RSV detected (P=0.030). A total of 298 samples were detected with single RSV, 148 were detected with RSV mixed with other viruses, 389 were detected with other viruses, and 241 were detected negative for viruses. Compared with the other viruses and negative virus groups, the single RSV group had a significantly younger age and significantly higher incidence rates of dyspnea, respiratory failure, and severe lower respiratory tract infection (P < 0.0083). The RSV-A positive group had a significantly higher proportion of boys than the RSV-B positive group (P=0.004), but there were no significant differences in clinical manifestations between the two groups. CONCLUSIONS In Chongqing in 2013-2018, RSV-A and RSV-B not only can predominate alternately, but also can co-circulate during a season. RSV is the major viral pathogen of hospitalized children with ALRI and can cause severe lower respiratory tract infection. There are no differences in clinical manifestations between children with RSV-A infection and those with RSV-B infection, but boys are more susceptible to RSV-A infection.

Features of Sitosterolemia in Children

Sitosterolemia is a rare lipid metabolism disease with heterogeneous manifestations. Atherosclerosis can occur in children, and therefore, early detection, diagnosis, and treatment of this disease are important. We studied 18 pediatric patients with sitosterolemia who showed a significant increase in plasma lipid levels and analyzed their clinical, biochemical, and genetic characteristics. We recorded the initial serum lipid results and clinical manifestations of the patients. Lipid and plant sterol levels were measured after homozygous or compound heterozygous mutations of ABCG5 or ABCG8 were identified by genetic testing. Plasma plant sterol levels were analyzed by gas chromatography. Fourteen cases of sitosterolemia were examined by ultrasound and echocardiography. The initial total cholesterol and low-density lipoprotein levels of the children were significantly increased, but then markedly decreased after diet control or drug treatment, and even reached normal levels. Carotid atherosclerosis and aortic valve regurgitation were present in three of 14 patients. Serum lipid levels of children with sitosterolemia and xanthomas were notably higher than those without xanthomas. There were no significant differences in clinical manifestations between patients with different genotypes. In conclusion, sitosterolemia should be considered in children with hyperlipidemia who do not present with xanthomas, especially with a significant increase in total cholesterol and low-density lipoprotein levels. There does not appear to be a correlation between clinical phenotype and genotype.

Diagnostic and treatment algorithm for different phenotypes of chronic rhinosinusitis with nasal polyps

Chronic rhinosinusitis with nasal polyps (CRSwNP) may vary in clinical manifestations and can often be associated with a number of comorbid diseases. For a practitioner it is important to forecast the development of the disease, evaluate the risk of relapse and select the most efficient method of treatment in each clinical case. At present, there are no standardized and validated diagnostic biomarkers that could be used as predictors of CRSwNP clinical course. Purpose of the study: to develop diagnostic and treatment algorithm for varies CRSwNP phenotypes based on clinical and laboratory parameters. Materials and methods, CRSwNP patients were split into 3 groups: group 1 - CRSwNP without allergy and asthma; group 2 - CRSwNP with allergic rhinitis and/or allergic asthma; group 3 - CRSwNP with non-allergic asthma. All patients were subjected to nasal cavity endoscopy and nasal polyps biopsy, allergological examination, histological analysis of polyp stroma to detect the leukocytes infiltration and eosinophil-neutrophil index (ENI). Results, CRSwNP phenotypes show significant difference in clinical manifestations of rhinosinusitis (p

Clinical characteristics and cerebro-spinal fluid cytokine changes in patients with acquired immunodeficiency syndrome and central nervous system infection.

Clinical characteristics and the cerebro-spinal fluid (CSF) cytokine changes in acquired immunodeficiency syndrome (AIDS) patients with tuberculous meningitis and cryptococcal meningitis in central nervous system (CNS) infections before and after treatment were investigated. The clinical records of 80 AIDS patients with CNS infections and 40 non-CNS infection patients hospitalized in the Infection Department of the First Hospital of Changsha from February 2013 to March 2016 were retrospectively analyzed. Forty-one cases of AIDS complicated with tuberculous meningitis were enrolled as group A, 39 cases of AIDS complicated with cryptococcal meningitis as group B, and 40 cases of non-CNS infection with lumbar puncture indication as group C. The general data, clinical symptoms, CSF examination and prognosis of the three groups of patients were collected. Of the 80 patients, 56 patients were discharged from hospital (improvement group) and 24 died (death group) after treatment. The concentrations of interferon-γ (IFN-γ), interleukin-6 (IL-6), interleukin-10 (IL-10) and tumor necrosis factor-α (TNF-α) in CSF were detected by enzyme-linked immunosorbent assay. There were significant differences in clinical manifestations, CSF pressure, CSF leucocyte count, CSF glucose, CSF chloride and CSF protein between group A, group B and group C (P<0.05). The concentrations of IFN-γ, IL-6, IL-10 and TNF-α in CSF of group A and group B increased significantly compared with group C (P<0.001). The IL-6, IL-10 and TNF-α levels in CSF in the improvement group were significantly lower than those in the death group (P<0.001), while the concentration of IFN-γ increased significantly (P<0.001). CSF biochemistry is characterized by increased pressure, leucocyte count and protein, and decreased chloride and glucose. IFN-γ, IL-6, IL-10 and TNF-α in CSF have certain predictive value for poor prognosis of AIDS patients with CNS infection.

Clinical features and mid‐term follow‐up in infants younger than 3 months with Kawasaki disease in a Chinese population

To explore the clinical features and mid-term follow-up of Kawasaki disease (KD) in infants younger than 3 months of age in a Chinese population. We performed a retrospective analysis of clinical signs, laboratory data, echocardiography results and outcomes for patients with KD diagnosed at our hospital from January 2009 to December 2013. A total of 1150 children were diagnosed with KD, and 200 KD patients were enrolled in this study. Group 1 included 40 children younger than 3 months of age. We randomly selected a control group as Group 2 included 160 children older than 3 months of age who fulfilled diagnostic criteria for KD and maintained follow-up for more than 1 year. There was a significant difference in clinical manifestations between the two groups, except respiratory infection. Group 1 was more likely to have incomplete presentation (P < 0.001). There were no significant differences in laboratory data except for white blood cell counts between the two groups. Coronary artery abnormalities were significantly different between the two groups (P < 0.001). At a mean follow-up of 18 months (range 12-48 months), all patients with coronary artery abnormalities, except for giant coronary aneurysms, returned to normal in terms of diameter as assessed by echocardiography. Infants younger than 3 months of age with KD often present with incomplete criteria, and diagnosis may be delayed. In addition, there may be a higher risk of developing coronary artery abnormalities. All patients except those with giant coronary aneurysms recovered well without complications at mid-term follow-up.

Surgical Interventions for Organ and Limb Ischemia Associated With Primary and Secondary Antiphospholipid Antibody Syndrome With Arterial Involvement.

The association of antiphospholipid antibody syndrome (APS) and hypercoagulability is well known. Arterial compromise leading to ischemia of organs and/or limbs in patients with APS is uncommon, frequently unrecognized, and rarely described. We evaluated our institutional experience. Retrospective review was conducted. From August 2007 to September 2016, 807 patients with diagnosis of APS were managed in our Institution. Patients with primary and secondary APS who required interventions were examined. Demographics, comorbidities, manifestations, procedures, complications, and other factors affecting outcomes were recorded. Fourteen patients (mean age 35 years old, standard deviation ±14) were evaluated and treated by our service. Six (43%) of them had primary APS and 8 (57%) had secondary APS; 11 (79%) were female. Two (14%) experienced distal aorta and iliac arteries involvement, 3 (21%) visceral vessels disease, 2 (14%) in upper and 7 (50%) in the lower extremity vasculatures. Thirteen (93%) patients underwent direct open revascularization and 1 with hand ischemia (Raynaud disease) underwent sympathectomy. During the mean follow-up period of 48 months, reinterventions included a revision of the proximal anastomosis of an aortobifemoral bypass graft, 1 (7%) abdominal exploration for bleeding, 1 (7%) graft thrombectomy, and 4 (29%) amputations (2 below the knee, 1 above the knee, and 1 transmetatarsal). One (7%) death occurred secondary to sepsis in a patient who had acute mesenteric ischemia. Significant differences in clinical manifestations and outcomes were not observed among patients with primary and secondary APS. All patients remained on systemic anticoagulation. APS is a prothrombotic disorder that may lead to arterial involvement with less frequency than the venous circulation but has significant morbidity and limb loss rate. Arterial reconstruction seems feasible in an attempt to salvage organs and limbs; however, research is necessary to establish the optimal anticoagulation regime and long-term management following surgical interventions.

Allergen sensitization and clinical characteristics in young children with atopic dermatitis

Purpose: Few studies have demonstrated the effects of aeroallergen sensitization on the development of atopic dermatitis (AD) in young children. This study aimed to investigate the sensitization rate of food and aeroallergens in AD patients under 2 years of age and to compare clinical characteristics between IgE- and non-IgE-mediated AD patients. Methods: Children aged less than 2 years who had visited CHA Bundang Medical Center from 2013 through 2016 were enrolled. Al lergen sensitization was measured by specific IgE levels for common allergens. Detailed information was obtained using an atopy questionnaire. Results: A total of 173 patients were examined, 118 (68.2%) were male patients. The prevalence of aeroallergen sensitization under 1 year of age was 4.8% and increased to 19.5% for children aged 2 years (P=0.005). The mean age (13.6±6.3 months vs. 9.0±5.1 months, P=0.003) and the proportion of children born prematurel (15.4% vs. 2.3%, P=0.013) were higher in the aeroallergen-sensi tized group than in nonsensitized group. Sensitization to food allergens between children aged less than 1 year and 2 years ap peared to be similar (61.1% vs. 57.1%, P=0.651). There were no significant differences in clinical characteristics between food aller gen IgE-mediated and non-IgE-mediated AD children. Conclusion: Aeroallergen sensitization increased markedly in AD patients aged 2 years which is about 4 times that of the general population. However, there were no significant differences in clinical manifestations between allergen IgE-mediated and non-IgE-mediated AD children in both food and aeroallergens. (Allergy Asthma Respir Dis 2017:5:128-134)

A Retrospective Study of Chinese Patients With Giant Cell Arteritis (GCA): Clinical Features and Factors Associated With Severe Ischemic Manifestations.

A retrospective study was performed on 70 giant cell arteritis (GCA) patients in Peking Union Medical College Hospital (PUMCH). The aim of this study was to describe the clinical features of these Chinese GCA patients and explore the possible associated factors for severe ischemic manifestations. Medical charts of all patients were reviewed, and the demographic, clinical, and laboratory data were analyzed. The mean age at disease onset was 65.2 years old, and the ratio of male to female was 1:1. Fever and headache were most prominent symptoms at onset, which occurred in 51.4% and 30.0% of patients, respectively. Common manifestations at diagnosis were constitutional symptoms (85.7%), headache (68.8%), visual impairment (38.6%), jaw claudication (30%), scalp tenderness (30%), and concurrent polymyalgia rheumatic (27.1%). No significant difference in clinical manifestations between genders was observed. Comparisons between patients with and without severe ischemic manifestations including jaw claudication, permanent visual loss, or cerebrovascular accident had shown that fever and asthenia were significantly less frequent in patients with severe ischemic manifestations (P = 0.006 and 0.023, respectively), and the mean value of erythrocyte sedimentation rate (ESR) was significantly lower in patients with severe ischemic manifestations than patients without (P = 0.001). History of smoking was more frequent in patients with severe ischemic manifestations (P = 0.038).This is the largest group of GCA patients from China so far. When compared our data with patients reported in the literature, this series of GCA patients were younger and without female predominance. The clinical manifestations of patients in this report were similar to other studies except for a higher prevalence of constitutional symptoms. The results of this study indicated that lower systemic inflammatory response and the history of smoking might be associated with severe ischemic damages.

MEFV mutations in Iranian Azari Turkish patients with Henoch-Schönlein purpura.

The aim of the current study was to screen the rate of MEFV mutations in Henoch-Schönlein purpura (HSP) and to investigate the association of these mutations plus clinical symptoms with HSP disease in the Iranian Azari Turkish ethnic group. The study groups included 40 unrelated HSP patients and 200 apparently healthy people without any kind of inflammatory diseases as a control group. Molecular screening was performed for eight main mutations, namely M694V, M694I, M680I, V726A, E148Q, R761H, P396S, and R408Q, using polymerase chain reaction (PCR), restriction fragment length polymorphism (RFLP), and sequencing. Out of the 40 studied patients, 27 subjects (67.5%) did not show any mutation, whereas 10 patients (25%) were heterozygotes for one of the following mutations: M694V, M680I, V726A, E148Q. Moreover, three patients (7.5%) were compound heterozygotes for P369S and R408Q. The significant differences between the patient and control groups for M680I, V726A, E148Q, P396S, and R408Q were P = 0.0043, P = 0.0324, P = 0.0145, P = 0.0043, and P = 0.0043, respectively. Furthermore, no significant difference in clinical manifestations was observed between the two groups of patients with and without mutations. Based on the results, MEFV mutations could be considered effective genetic factors for development of HSP in the Iranian Azari Turkish ethnic group.