Syndrome Categories Research Articles

Editorial Comment

The complex network of etiologic and pathologic factors involving the chronic pelvic pain syndrome makes the diagnosis and treatment of this pathologic condition one of the most difficult challenge in current urologic daily clinical practice. Different conditions such as chronic prostatitis–chronic pelvic pain syndrome category III according the National Institutes of Health classification, interstitial cystitis, and painful bladder syndrome should be included in the list of diseases with multifactorial mechanisms of physiopathology and development, thus exposed to unsuccessful treatments in the absence of multimodal therapies. Nickel and Shoskes 1 Nickel J.C. Shoskes D. Phenotypic approach to the management of the chronic prostatitis/chronic pelvic pain syndrome. BJU Int. 2010; 106: 1252-1263 Crossref PubMed Scopus (47) Google Scholar previously identified multiple different phenotypic aspects among patients with urologic chronic pelvic pain syndromes (UCPPS) and suggested the subsequent need of rational, patient-directed, multimodal, multidisciplinary, therapeutic strategy. On the other hand, patients with pelvic pain have significant disturbances in psychological profiles compared with those of healthy controls and evidence of altered hypothalamic-pituitary-adrenal axis function in response to acute stress. These central nervous system observations may be a consequence of neuropsychological adjustments to chronic pain and modulated by personality. 2 Anderson R.U. Orenberg E.K. Morey A. et al. Stress induced hypothalamus-pituitary-adrenal axis responses and disturbances in psychological profiles in men with chronic prostatitis/chronic pelvic pain syndrome. J.Urol. 2009; 182: 2319-2324 Abstract Full Text Full Text PDF PubMed Scopus (35) Google Scholar The UPOINT (Urinary, Psychosocial, Organ-Specific, Infection, Neurologic/Systemic and Tenderness) classification represents the innovative recommended option to investigate on the different aspects of the diseases and improve patient outcomes. 3 Shoskes D.A. Nickel J.C. Kattan M.W. Phenotypically directed multimodal therapy for chronic prostatitis/chronic pelvic pain syndrome: a prospective study using UPOINT. Urology. 2010; 75: 1249-1253 Abstract Full Text Full Text PDF PubMed Scopus (140) Google Scholar Widespread Psychosocial Difficulties in Men and Women With Urologic Chronic Pelvic Pain Syndromes: Case-control Findings From the Multidisciplinary Approach to the Study of Chronic Pelvic Pain Research NetworkUrologyVol. 85Issue 6PreviewTo determine the extent, severity, and sex differences of psychosocial deficits in men and women with urologic chronic pelvic pain syndromes (UCPPS), which in the past have been considered separate bladder (interstitial cystitis–painful bladder syndrome) and prostate (chronic prostatitis–chronic pelvic pain syndrome) disorders. Evaluations of men and women separately suggest UCPPS is associated with increased anxiety and depression. However, studies directly testing deficits in broader psychosocial domains such as cognitive processes, intimate relationships, and trauma history, or tests of sex differences in the pattern of difficulties associated with UCPPS have not been performed. Full-Text PDF

Effectiveness of Acupuncture on Chronic Prostatitis–Chronic Pelvic Pain Syndrome Category IIIB Patients: A Prospective, Randomized, Nonblinded, Clinical Trial

To compare the acupuncture treatment and the medical treatment with antibiotics and nonsteroidal anti-inflammatory drugs (NSAIDs) on pain control, urinary symptoms, and quality of life of category IIIB chronic prostatitis-chronic pelvic pain syndrome (CP-CPPS). From November 2008 to May 2009, 54 male patients with category IIIB CP-CPPS were randomly divided into 2 groups: the medical treatment group (group 1, n = 28) and the acupuncture treatment group (group 2, n = 26). Group 1 took levofloxacin 500 mg daily and ibuprofen 200 mg twice a day for 6 weeks. In the acupuncture group (group 2), bilateral BL32 (Ciliao) and BL33 (Zhongliao) acupoints were used to stimulate the sacral nerve using an electrical pulse generator, twice a week for 7 weeks. The change in National Institutes of Health Chronic Prostatitis Symptom Index scores from the baseline to the end of the treatment was observed. The mean follow-up was 28 weeks from the baseline (range, 20-43 weeks). In acupuncture group, reduction of pain, urinary symptoms, quality of life, and total National Institutes of Health Chronic Prostatitis Symptom Index score was higher compared with the medical group. However the treatment of CP-CPPS is challenging and difficult for the urologists. This clinical study showed that the acupuncture treatment is a safe and effective treatment of category IIIB CP-CPPS.

The Role of Executive Function in the Semantic Comprehension Deficits of Stroke Aphasia and Semantic Dementia

The Role of Executive Function in the Semantic Comprehension Deficits of Stroke Aphasia and Semantic Dementia

Enjeux et perspectives psychopathologiques de la phobie scolaire

BackgroundIn our modern society, the number of teenagers and adolescents refusing to go to school is regularly increasing. These difficulties are a common reason for medical consultation. Indeed, school requirements which often interfere with puberty and with adolescent processes can be a source of important psychological conflicts. Despite the intellectual abilities of these young people, these situations of anxious refusal are often incomprehensible for professors and parents alike. MethodsBuilding on an extensive review of historical and clinical literature, the authors recall the interest enjoyed by the generic term “school phobia”. Object of a considerable number of reports and studies in psychiatry and psychopathology, distinguished from other forms of phobias or educational problems (truancy, learning refusal), school phobia was defended by the psychodynamic orientation of European psychiatry. This notion knows nowadays some disaffection. More recently, the promotion of school refusal is currently the peak of the psychologizing of youth and adolescent experiences in school. With undeniable political and economic issues, “school refusal” is expected as an ideological attractor in the field of health. ResultsThe article shows the importance of school phobia at the crossroads of mental pathology. When school refusal includes the most diverse school issues (defection, addiction, avoidance, self-sabotage) and mask the clinical characteristics of these behaviors, school phobia has historically allowed for essential clinical discussions on anxiety, depression and secondly to distinguish phobic symptoms of classic style and those belonging to very diverse defensive formulas (borderline, psychosis). DiscussionsFor many children and adolescents, school phobia is part of a very emergency symptomatology. This subjective solution is certainly very precarious. It may however be the support of a major “work on oneself.” beyond contemporary syndromic categories, the authors point the importance of active listening. The multidisciplinary care of the adolescent must pay significant attention to the dynamics of the family psychic economy.

Validation of Alternative Chronic Myelomonocytic Leukemia (CMML)-Specific Prognostic Scoring (CPSS) System in UT MD Anderson Cancer Center Cohort

INTRODUCTIONChronic myelomonocytic leukemia (CMML) is a myeloid neoplasm that belongs to the category of myelodysplastic syndrome / myeloproliferative neoplasms (MDS / MPN). The International Prognostic Scoring System for Myelodysplastic Syndromes (IPSS) classification and its revised version (IPSS-R) addressed patients with newly diagnosed, untreated MDS and excluded CMML. While numerous investigators have attempted to devise a prognostic risk scoring system for CMML, no system has been generally accepted for this entity. A CMML-specific prognostic scoring (CPSS) system proposed by Such, et al [Blood. 2013; 11;121(15):3005-15] defines 4 different prognostic risk categories for estimating both overall survival (OS) and risk for AML transformation; the alternative version replaces RBC transfusion dependency with hemoglobin levels. AIMThe aim of the study is to validate the alternative CPSS scoring system on the CMML patient cohort at UT MD Anderson Cancer Center (UTMDACC). METHODSThe databases of the Department of Hematopathology at UTMDACC were searched for patients diagnosed with CMML presenting from 2005 to 2012. Cases were classified by WHO 2008 criteria. Inclusion criteria were: confirmed diagnosis of CMML, age > 18 years, persistent absolute monocyte count >1 × 109/L, marrow blasts < 20%, peripheral blood blasts < 20%. The alternative CPSS score was calculated as a function of WHO subtype, FAB subtype, CMML-specific cytogenetic risk classification, and hemoglobin score. Cox proportional hazards regression was used to model overall survival and time to AML progression from date of diagnosis. For time to AML progression, patients who did not experience AML progression were censored at their date of death or last follow-up. Kaplan-Meier curves were used to estimate survival and the log-rank test was used to test for significant differences by CPSS score. All statistical analyses were performed using SAS 9.3 for Windows. RESULTSTwo hundred and three patients with newly diagnosed, untreated CMML were identified in the clinical databases. These included 132 males and 71 females; median age was 70 (range 55-80) years. 149 had CMML-1 and 54 had CMML-2. A total of 107 deaths and 38 progressions were observed. The median (range) follow-up time for all patients was 1.9 (2 days-10.8) years. The variables that compose the alternative CPSS (WHO subtype, FAB subtype, CMML-specific cytogenetic risk classification, hemoglobin) as well as a description of how the score is calculated are given in Tables 1-2. In univariate Cox models, the alternative CPSS score was a significant predictor of both OS and time to AML progression (Type III p-values <.0001 and 0.0037, respectively). Median survival times for OS were 4.07, 3.32, 2.14, and 1.23 years in the low, intermediate-1, intermediate-2, and high risk groups, respectively. Since less than half the patients progressed, the median time to AML progression could not be estimated for all groups but was 6.40 and 1.60 in the intermediate-2 and high risk groups, respectively. Overall, the alternative CPSS score was highly predictive of both OS and progression free survival (PFS) and clearly delineated the patient risk groups in this sample. CONCLUSIONSThese data reinforce the validity of the alternative CPSS and serve as an additional validation cohort.Table 1Alternative CMML-specific prognostic scoring system (CPSS) score criteriaVariableEach level assigned the following value(sum to get the composite CPSS score):012WHO subtypeCMML-1 blasts (including promonocytes) <5% in the PB and <10% in the BMCMML-2 blasts (including promonocytes) from 5% to 19% in the PB and from 10% to 19% in the BM, or when Auer rods are present irrespective of blast count—FAB subtypeCMML-MD (WBC <13 × 109/L)CMML-MP (WBC ≥13 × 109/L)—CMML-specific cytogenetic risk classification*LowIntermediateHighHemoglobin≥10 g/dL<10/dL WBCwhite blood cell* CMML-specific cytogenetic risk classification; low: normal and isolated –Y; intermediate: other abnormalities; and high: trisomy 8, complex karyotype (≥3 abnormalities), chromosome 7 abnormalitiesTable 2Alternative CPSS: scores used for predicting likelihood of survival and leukemic evolution in individual patient with CMMLRisk groupOverall CPSS scoreLow0Intermediate-11Intermediate-22-3High4-5 [Display omitted] [Display omitted] DisclosuresNo relevant conflicts of interest to declare.

Restless legs syndrome in hemodialysis patients: Prevalence and association to daytime functioning

The prevalence of restless legs syndrome and its impact on daytime function were explored in a hemodialysis population, particularly addressing the response consistency of restless legs syndrome symptoms. A two-point internet-based questionnaire survey with a one week interval was administered to 645 subjects of a hemodialysis population. Five hundred and four candidates (332 men and 172 women with mean [SD] age of 59.1 [12.8] years) with hemodialysis who completed the two surveys were selected for analysis. Questionnaire items included personal data, four criteria items for diagnosis of restless legs syndrome, Athens Insomnia Scale, Center for Epidemiologic Studies Depression Scale, Short Form 8-items for health survey, and items of the International Restless Legs Syndrome Severity Scale. Factors associated with deteriorated mental component summary and physical component summary on Short Form 8-items for health survey and depression were assessed. Prevalence of restless legs syndrome was the rate of those meeting the four diagnostic criteria items for this disorder in both surveys: 12.9%. Restless legs syndrome category defined by response consistency to the restless legs syndrome criteria items was significantly associated with the physical component summary score deterioration. This two-point survey indicated reliable prevalence of restless legs syndrome in a hemodialysis population, and revealed that stability of restless legs syndrome symptoms might contribute to the presence of certain daytime dysfunctions in this population.

Genetic and environmental relationships of metabolic and weight phenotypes to metabolic syndrome and diabetes: the healthy twin study.

We aimed to examine the relationships, including genetic and environmental correlations, between metabolic and weight phenotypes and factors related to diabetes and metabolic syndrome. Participants of the Healthy Twin Study without diabetes (n=2687; 895 monozygotic and 204 dizygotic twins, and 1588 nontwin family members; mean age, 42.5±13.1 years) were stratified according to body mass index (BMI) (<25 vs. ≥25 kg/m(2)) and metabolic syndrome categories at baseline. The metabolic traits, namely diabetes and metabolic syndrome, metabolic syndrome components, glycated hemoglobin (HbA1c) level, and homeostasis model assessment of insulin resistance (HOMA-IR), were assessed after 2.5±2.1 years. In a multivariate-adjusted model, those who had metabolic syndrome or overweight phenotypes at baseline were more likely to have higher HbA1C and HOMA-IR levels and abnormal metabolic syndrome components at follow-up as compared to the metabolically healthy normal weight subgroup. The incidence of diabetes was 4.4-fold higher in the metabolically unhealthy but normal weight individuals and 3.3-fold higher in the metabolically unhealthy and overweight individuals as compared with the metabolically healthy normal weight individuals. The heritability of the metabolic syndrome/weight phenotypes was 0.40±0.03. Significant genetic and environmental correlations were observed between the metabolic syndrome/weight phenotypes at baseline and the metabolic traits at follow-up, except for incident diabetes, which only had a significant common genetic sharing with the baseline phenotypes. The genetic and environmental relationships between the metabolic and weight phenotypes at baseline and the metabolic traits at follow-up suggest pleiotropic genetic mechanisms and the crucial role of lifestyle and behavioral factors.

Emergency Medical Text Classifier: New system improves processing and classification of triage notes.

ObjectiveAutomated syndrome classification aims to aid near real-time syndromic surveillance to serve as an early warning system for disease outbreaks, using Emergency Department (ED) data. We present a system that improves the automatic classification of an ED record with triage note into one or more syndrome categories using the vector space model coupled with a ‘learning’ module that employs a pseudo-relevance feedback mechanism. Materials and Methods: Terms from standard syndrome definitions are used to construct an initial reference dictionary for generating the syndrome and triage note vectors. Based on cosine similarity between the vectors, each record is classified into a syndrome category. We then take terms from the top-ranked records that belong to the syndrome of interest as feedback. These terms are added to the reference dictionary and the process is repeated to determine the final classification. The system was tested on two different datasets for each of three syndromes: Gastro-Intestinal (GI), Respiratory (Resp) and Fever-Rash (FR). Performance was measured in terms of sensitivity (Se) and specificity (Sp). Results: The use of relevance feedback produced high values of sensitivity and specificity for all three syndromes in both test sets: GI: 90% and 71%, Resp: 97% and 73%, FR: 100% and 87%, respectively, in test set 1, and GI: 88% and 69%, Resp: 87% and 61%, FR: 97% and 71%, respectively, in test set 2. Conclusions: The new system for pre-processing and syndromic classification of ED records with triage notes achieved improvements in Se and Sp. Our results also demonstrate that the system can be tuned to achieve different levels of performance based on user requirements.

Mercury, APOE, and child behavior

Methylmercury (MeHg) is a neurotoxicant and may have an adverse impact on child behavior. However, this impact was found to be inconsistent in fish-eating populations. Although the positive effects of the nutrients provided by a fish diet may overcome the effect of MeHg, the possibility of genetic variants influencing an individual’s response to MeHg has also been discussed. The role of the Apolipoprotein E (APOE) epsilon 4 allele (ε4) on MeHg related neurotoxicity is still unclear. In the present study, we investigated the role of APOE variants in the relationship between cord blood mercury (Hg) and child behavior.A total of 166 subjects were recruited at delivery, and their cord blood was collected for laboratory analyses of Hg and the APOE genotype. The Child Behavior Checklist (CBCL) was administered to the subjects when they reached the age of two years.An increase in cord blood Hg concentrations in APOE ε4 carriers was consistently associated with an increased score for all CBCL syndromes. After controlling for potential confounding factors, the group of ε4 carriers with an elevated cord blood Hg concentration had significantly higher scores in the syndrome categories of general internalizing, emotionally reactive, and anxiety/depression as well as CBCL total scores. Furthermore, general externalizing and aggressive syndromes were borderline significantly higher in this group. In conclusion, we suggest that APOE may modify the toxicity of MeHg. APOE ε4 carriers may be more vulnerable to the effects of MeHg on child behavior at the age of two years.

Predisposition to pediatric and hematologic cancers: a moving target.

Our understanding of hereditary cancer syndromes in children, adolescents, and young adults continues to grow. In addition, we now recognize the wide variation in tumor spectrum found within each specific cancer predisposition syndrome including the risk for hematologic malignancies. An increased understanding of the genetic mutations, biologic consequences, tumor risk, and clinical management of these syndromes will improve patient outcome. In this article, we illustrate the diversity of molecular mechanisms by which these disorders develop in both children and adults with a focus on Li-Fraumeni syndrome, hereditary paraganglioma syndrome, DICER1 syndrome, and multiple endocrine neoplasia syndrome. This is followed by a detailed discussion of adult-onset tumors that can occur in the pediatric population including basal cell carcinoma, colorectal cancer, medullary thyroid cancer, and adrenal cortical carcinoma, and the underlying hereditary cancer syndromes that these tumors could indicate. Finally, the topic of leukemia predisposition syndromes is explored with a specific focus on the different categories of syndromes associated with leukemia risk (genetic instability/DNA repair syndromes, cell cycle/differentiation, bone marrow failure syndromes, telomere maintenance, immunodeficiency syndromes, and transcription factors/pure familial leukemia syndromes). Throughout this article, special attention is made to clinical recognition of these syndromes, genetic testing, and management with early tumor surveillance and screening.

A Dictionary-based Method for Detecting Anomalous Chief Complaint Text in Individual Records

The success of syndromic surveillance depends on the ability of the surveillance community to quickly and accurately recognize anomalous data. Current methods of anomaly detection focus on sets of syndromic categories and rely on a priori knowledge to map chief complaints to these general syndromic categories. As a result, the mapping scheme may miss key terms and phrases that have not previously been used. Furthermore, analysts do not have a good way of being alerted to these new terms in order to determine if they should be added to the syndromic mapping schema. We use a dynamic dictionary of terms to side-step the downfalls of a priori knowledge in this rapidly evolving field by alerting the analyst to rare and brand new words used in the chief complaint field.

A case of sudden hearing loss during treatment with decitabine for chronic myelomonocytic leukemia.

Chronic myelomonocytic leukemia (CMML) was initially classified in the category of myelodysplastic syndrome (MDS), but it is now categorized by the 2001 World Health Organization (WHO) classification in a separate nosological group of MDS. Unlike chronic myeloid leukemia (CML), the bone marrow morphology in CMML demonstrates prominent dysplastic changes in at least two of the three myeloid lineages. A 73-year-old male patient was brought to division of hematology for evaluation of leukocytosis. He was diagnosed with CMML and treated with decitabine. The hearing impairment had arisen during the third cycle of decitabine. To our knowledge, this is the first case that idiopathic sudden hearing loss (SHL) occured in CMML patients during treatment with decitabine.

The Functional Difference of Dendritic Cells in HBeAg Negative Chronic Hepatitis B Patients with Three Different Spleen Deficiency Syndromes and the Therapeutic Evaluation of Chinese Medicine Intervention Based on Syndrome Differentiation.

Objective. To investigate the dendritic cells (DCs) maturity differences of HBeAg negative chronic hepatitis B (CHB) patients with different spleen deficiency (SD) syndromes and explore the role of syndrome differentiation in the therapeutic evaluation of Chinese medicine. Methods. 120 participants were recruited including three treatment groups in different SD syndrome categories as spleen deficiency with liver depression (SDLD), spleen deficiency with damp heat (SDDH), and spleen deficiency with kidney deficiency (SDKD) and one healthy control group; each group had 30 participants. Corresponding drugs were applied. The outcome measures included DC phenotype, liver function, IL-10, IL-12, and HBV-DNA levels. Results. The surface markers of mature DCs and cytokines levels were different in each group; the positive rate of CD80, CD1a, HLA-DR, and CD1a was the lowest in SDKD group. After 3-month intervention, the expression of CD80, CD86, CD1a, HLA-DR, and IL-12 significantly increased, while ALT, AST, and IL-10 significantly decreased (P < 0.05) in treatment groups. HBV-DNA level also significantly reduced in both SDKD and SDLD groups (P < 0.05). Conclusions. HBeAg negative patients had DCs dysmaturity, and there were differences between different SD syndromes. Chinese medicine intervention according to syndrome differentiation could advance the maturity and function of DCs and improve the therapeutic effect.

Giant Renal Angiomyolipoma: Unusual Cause of Huge Abdominal Mass

We present the imaging and histopathological characteristics of a giant renal angiomyolipoma (AML) in a 49-year-old female patient, who presented with bloating sensation in the abdomen and a steadily increasing abdominal girth for about 3 years. Contrast enhanced computed tomography (CECT) scan films of abdomen revealed that a large fat containing tumor had replaced the left kidney while displacing the rest of the abdominal contents toward the other side of the midline. Intraoperatively the left kidney was completely replaced by a fat containing tumor. The recovered surgical specimen measured 39 cm × 25 cm × 9 cm and weighed 7500 g. Histopathological investigation with immuno-histochemical staining of the specimen with hydroxy beta-methylbutyric acid-45 confirmed this lesion as AML. CECT scan of the head did not show any lesion suggestive of tuberous sclerosis. The giant tumor of the present case is the heaviest AML in both syndromic and sporadic categories and largest by dimensions as sporadic AML ever reported in the literature.

Adapting the psychiatric assessment for primary care

The traditional form of psychiatric assessment needs to be shortened to facilitate its use at the primary care level. This can be done if there is a good understanding of the aims and purposes of a mental health assessment and its nature as a work in progress. Because many people with mental illness struggle to identify the preceding, it is important to know when to suspect it and what questions to ask. Developing and maintaining rapport is vital for a successful assessment, but doing so simply requires attention to skills that should be basic for any practitioner. Collateral information is vital in many instances. It is seldom possible or desirable to reach a definitive diagnosis and treatment plan at the first assessment, so this should be seen as the beginning of a collaborative process of investigation that, in and of itself, has therapeutic value. It is vital to identify what steps must be taken urgently at the first assessment, so a careful risk assessment is crucial. This requires a clear understanding of the hierarchy of risks that may be present. A diagnostic framework of broad syndromal categories will then provide a basis to direct further enquiry.

Diversity and use of ethno-medicinal plants in the region of Swat, North Pakistan

BackgroundDue to its diverse geographical and habitat conditions, northern Pakistan harbors a wealth of medicinal plants. The plants and their traditional use are part of the natural and cultural heritage of the region. This study was carried out to document which medicinal plant species and which plant parts are used in the region of Swat, which syndrome categories are particularly concerned, and which habitat spectrum is frequented by collectors. Finally, we assessed to which extent medicinal plants are vulnerable due to collection and habitat destruction.MethodsAn ethnobotanical survey was undertaken in the Miandam area of Swat, North Pakistan. Data were collected through field assessment as well as from traditional healers and locals by means of personal interviews and semi-structured questionnaires.ResultsA total of 106 ethno-medicinal plant species belonging to 54 plant families were recorded. The most common growth forms were perennial (43%) and short-lived herbs (23%), shrubs (16%), and trees (15%). Most frequently used plant parts were leaves (24%), fruits (18%) and subterranean parts (15%). A considerable proportion of the ethno-medicinal plant species and remedies concerns gastro-intestinal disorders. The remedies were mostly prepared in the form of decoction or powder and were mainly taken orally. Eighty out of 106 ethno-medicinal plants were indigenous. Almost 50% of the plants occurred in synanthropic vegetation while slightly more than 50% were found in semi-natural, though extensively grazed, woodland and grassland vegetation. Three species (Aconitum violaceum, Colchicum luteum, Jasminum humile) must be considered vulnerable due to excessive collection. Woodlands are the main source for non-synanthropic indigenous medicinal plants. The latter include many range-restricted taxa and plants of which rhizomes and other subterranean parts are dug out for further processing as medicine.ConclusionMedicinal plants are still widely used for treatment in the area of Swat. Some species of woodlands seem to be adapted to wood-pasture, but vulnerable to overcollecting, and in particular to deforestation. It is suggested to implement local small-scaled agroforestry systems to cultivate vulnerable and commercially valuable ethno-medicinal woodland plants under local self-government responsibility.

Aortic atresia: A case report

A 1 day-old male newborn with the diagnosis of pulmonary atresia revealed with fetal echocardiography was admitted because of tachypnea. He was acyanotic, and he had intercostal retractions. Physical examination revealed a systolic murmur (grade 2/6) best heard at the 4th left intercostal space. Peripheral pulses were palpable and oxygen saturation was 92%. No significant changes were detected on standard 12-lead-electrocardiogram. Postnatal transthoracic echocardiography revealed absence of left ventricular outflow with large perimembranous ventricular septal defect and normal size of right and left ventricles. There was retrograde filling of the ascending aorta via patent ductus arteriosus. Prostaglandin E1 infusion was initiated to maintain patent ductus arteriosus. Cardiac catheterization was performed to demonstrate aortic morphology. Aortography depicted a hypoplastic ascending aorta without any communication between aorta, and left ventricle. Coronary arteries had normal branching and originated from the atretic end of the ascending aorta. Hypoplastic ascending aorta seemed to be a main coronary artery trunk (Video-1, Figure 1). The patient was considered as unavailable for corrective surgery and died 3 days after his birth while under prostaglandin E1 infusion and appropriate supportive treatment. Most cases with aortic atresia with left ventricular hypoplasia are grouped in the category of hypoplastic left heart syndrome (1,2). Few cases with a normal left ventricular configuration have been published (3). Aortic atresia or severe aortic stenosis and left ventricular outflow tract obstruction with two functionally adequate ventricles are sometimes treated by Norwood palliation followed by late biventricular repair (4). Actually this anomaly is not compatible with life and most of the fetuses are expected to die in utero or during the neonatal period (3,4).

Diagnostic Complexities of Eosinophilia

The advent of molecular tools capable of subclassifying eosinophilia has changed the diagnostic and clinical approach to what was classically called hypereosinophilic syndrome. To review the etiologies of eosinophilia and to describe the current diagnostic approach to this abnormality. Literature review. Eosinophilia is a common, hematologic abnormality with diverse etiologies. The underlying causes can be broadly divided into reactive, clonal, and idiopathic. Classically, many cases of eosinophilia were grouped together into the umbrella category of hypereosinophilic syndrome, a clinical diagnosis of exclusion. In recent years, an improved mechanistic understanding of many eosinophilias has revolutionized the way these disorders are understood, diagnosed, and treated. As a result, specific diagnoses can now be assigned in many cases that were previously defined as hypereosinophilic syndrome. Most notably, chromosomal rearrangements, such as FIP1L1-PDGFRA fusions caused by internal deletions in chromosome 4, are now known to be associated with many chronic eosinophilic leukemias. When present, these specific molecular abnormalities predict response to directed therapies. Although an improved molecular understanding is revolutionizing the treatment of patients with rare causes of eosinophilia, it has also complicated the approach to evaluating and treating eosinophilia. Here, we review causes of eosinophilia and present a framework by which the practicing pathologist may approach this diagnostic dilemma. Finally, we consider recent cases as clinical examples of eosinophilia from a single institution, demonstrating the diversity of etiologies that must be considered.

Primary Immunodeficiency Diseases in Different Age Groups: A Report on 1,008 Cases from a Single Brazilian Reference Center

Primary immunodeficiencies (PIDs) represent a large group of diseases that affect all age groups. Although PIDs have been recognized as rare diseases, there is epidemiological evidence suggesting that their real prevalence has been underestimated. We performed an evaluation of a series of 1,008 infants, children, adolescents and adults with well-defined PIDs from a single Brazilian center, regarding age at diagnosis, gender and PID category according to the International Union of Immunological Societies classification. Antibody deficiencies were the most common category in the whole series (61 %) for all age groups, with the exception of <2-year-old patients (only 15 %). In the >30-year-old group, antibody deficiencies comprised 84 % of the diagnoses, mostly consisting of common variable immunodeficiency, IgA deficiency and IgM deficiency. Combined immunodeficiencies represented the most frequent category in <2-years-old patients. Most congenital defects of phagocytes were identified in patients <5 -years of age, as were the diseases of immune dysregulation, with the exception of APECED. DiGeorge syndrome and ataxia-telangiectasia were the most frequent entities in the category of well-defined syndromes, which were mostly identified in patients <10-years of age. Males represented three-quarters and two-thirds of <2 -years-old and 2-5-years -old patients, respectively, whereas females predominated among the >30-year-old patients. Our data indicated that some PIDs were only detected at early ages, likely because affected patients do not survive long. In addition, our data pointed out that different strategies should be used to search for PIDs in infants and young children as compared to older patients.

Using n-Grams for Syndromic Surveillance in a Turkish Emergency Department Without English Translation: A Feasibility Study.

IntroductionSyndromic surveillance is designed for early detection of disease outbreaks. An important data source for syndromic surveillance is free-text chief complaints (CCs), which are generally recorded in the local language. For automated syndromic surveillance, CCs must be classified into predefined syndromic categories. The n-gram classifier is created by using text fragments to measure associations between chief complaints (CC) and a syndromic grouping of ICD codes.ObjectivesThe objective was to create a Turkish n-gram CC classifier for the respiratory syndrome and then compare daily volumes between the n-gram CC classifier and a respiratory ICD-10 code grouping on a test set of data.MethodsThe design was a feasibility study based on retrospective cohort data. The setting was a university hospital emergency department (ED) in Turkey. Included were all ED visits in the 2002 database of this hospital. Two of the authors created a respiratory grouping of International Classification of Diseases, 10th Revision ICD-10-CM codes by consensus, chosen to be similar to a standard respiratory (RESP) grouping of ICD codes created by the Electronic Surveillance System for Early Notification of Community-based Epidemics (ESSENCE), a project of the Centers for Disease Control and Prevention. An n-gram method adapted from AT&T Labs’ technologies was applied to the first 10 months of data as a training set to create a Turkish CC RESP classifier. The classifier was then tested on the subsequent 2 months of visits to generate a time series graph and determine the correlation with daily volumes measured by the CC classifier versus the RESP ICD-10 grouping.ResultsThe Turkish ED database contained 30,157 visits. The correlation (R2) of n-gram versus ICD-10 for the test set was 0.78.ConclusionThe n-gram method automatically created a CC RESP classifier of the Turkish CCs that performed similarly to the ICD-10 RESP grouping. The n-gram technique has the advantage of systematic, consistent, and rapid deployment as well as language independence.