WorldWideScience

Sample records for family previously diagnosed

  1. Melanoma diagnosed in lesions previously treated by laser therapy.

    Science.gov (United States)

    Delker, Sarah; Livingstone, Elisabeth; Schimming, Tobias; Schadendorf, Dirk; Griewank, Klaus G

    2017-01-01

    Laser therapy has become a routine procedure in dermatological practice and is frequently also used for pigmented lesions. Few reports exist of melanomas diagnosed in lesions previously treated by laser therapy. Between 2007 and 2014, we identified 11 patients who presented to our department with a melanoma diagnosed in a region previously treated by laser therapy. The course of events until the diagnosis of melanoma was assessed as well as patient outcome including treatment for disease progression. No histological assessment had been performed prior to laser therapy in nine of 11 (82%) cases. Benign melanocytic lesions had been diagnosed by biopsy prior to laser therapy in the other two cases. Time from laser therapy to diagnosis of melanoma ranged from less than 1 to 10 years. Stage of disease at diagnosis varied from stage IA to IIIC. Four patients progressed to stage IV disease, of whom at least one died of melanoma. We conclude that laser treatment of pigmented lesions can complicate the diagnosis of melanoma and lead to diagnosis delay with potentially fatal consequences. Considering this risk, we believe laser therapy for pigmented lesions should either be avoided entirely or at a minimum performed only after prior histological assessment. © 2016 Japanese Dermatological Association.

  2. Mood impairments in adults previously diagnosed with Developmental Coordination Disorder

    OpenAIRE

    2013-01-01

    Background: Developmental coordination disorder (DCD) affects up to 6% of the population and is diagnosed on the basis of poor motor coordination. While we know rather little about its lifetime consequences, clear and significant difficulties remain through the lifespan for the majority. Reduced physical activity and, outside of the motor domain, significant mental health issues exist for many with DCD. Aims: This study provides the first investigation of the presence of mood disorders in ...

  3. Previously diagnosed influenza infections and the risk of developing epilepsy.

    Science.gov (United States)

    Wilson, J C; Toovey, S; Jick, S S; Meier, C R

    2015-08-01

    Several epidemiological studies suggest a possible involvement of viral infection in the development of epilepsy. While recent research from in vitro studies increasingly supports the role of herpes simplex virus type 1 (HSV-1) in the pathogenesis of epilepsy, little is known about the role of other viral infections such as influenza. Using data from the Clinical Practice Research Datalink (CPRD), we conducted a matched case-control analysis to assess the association between GP-diagnosed influenza infections and the risk of developing an incident diagnosis of epilepsy. During the study period 11 244 incident epilepsy cases and 44 976 matched control patients were identified. Prior exposure to influenza was reported in 7·5% of epilepsy cases and 6·7% of controls [adjusted odds ratio (aOR) 1·12, 95% confidence interval (CI) 1·03-1·22]. Prior history of 'complicated influenza', i.e. influenza associated with a possible super-infection, was associated with a slightly increased epilepsy risk (aOR 1·64, 95% CI 1·10-2·46), particularly if recorded within the 2 months preceding the epilepsy diagnosis (aOR 6·03, 95% CI 1·10-33·2). Our findings suggest that prior influenza exposure does not appear to materially alter the risk of developing epilepsy. By contrast, influenza episodes accompanied by complications were associated with a slightly increased epilepsy risk.

  4. 613 cases of splenic rupture without risk factors or previously diagnosed disease: a systematic review

    Directory of Open Access Journals (Sweden)

    Aubrey-Bassler F

    2012-08-01

    Full Text Available Abstract Background Rupture of the spleen in the absence of trauma or previously diagnosed disease is largely ignored in the emergency literature and is often not documented as such in journals from other fields. We have conducted a systematic review of the literature to highlight the surprisingly frequent occurrence of this phenomenon and to document the diversity of diseases that can present in this fashion. Methods Systematic review of English and French language publications catalogued in Pubmed, Embase and CINAHL between 1950 and 2011. Results We found 613 cases of splenic rupture meeting the criteria above, 327 of which occurred as the presenting complaint of an underlying disease and 112 of which occurred following a medical procedure. Rupture appeared to occur spontaneously in histologically normal (but not necessarily normal size spleens in 35 cases and after minor trauma in 23 cases. Medications were implicated in 47 cases, a splenic or adjacent anatomical abnormality in 31 cases and pregnancy or its complications in 38 cases. The most common associated diseases were infectious (n = 143, haematologic (n = 84 and non-haematologic neoplasms (n = 48. Amyloidosis (n = 24, internal trauma such as cough or vomiting (n = 17 and rheumatologic diseases (n = 10 are less frequently reported. Colonoscopy (n = 87 was the procedure reported most frequently as a cause of rupture. The anatomic abnormalities associated with rupture include splenic cysts (n = 6, infarction (n = 6 and hamartomata (n = 5. Medications associated with rupture include anticoagulants (n = 21, thrombolytics (n = 13 and recombinant G-CSF (n = 10. Other causes or associations reported very infrequently include other endoscopy, pulmonary, cardiac or abdominal surgery, hysterectomy, peliosis, empyema, remote pancreato-renal transplant, thrombosed splenic vein, hemangiomata, pancreatic pseudocysts, splenic artery aneurysm

  5. CLINICAL AND FAMILY PROFILE OF PATIENTS DIAGNOSED WITH KERATOCONUS

    Directory of Open Access Journals (Sweden)

    Kalpana

    2015-03-01

    Full Text Available PURPOSE: To screen the first degree relatives of patient diagnosed with keratoconus . MATERIALS AND METHODS : All the patients included in the study, patient details were taken which included - name, age, gender, hospital number, address and family history [pedigree tree] . All the patients underwent refraction, best corrected visual acuity, colour vision , keratometry, intraocular pressure measurement and corneal topography [orbscan]. Family screening was done, which included - refraction, best corrected visual acuity, colour vision, keratometry, intraocular pressure and corneal topography [orbscan]. RESULTS: In this study of 40 eyes, 24 eyes [Right eyes - 12 & Left eyes - 12] i.e. 60% have keratoconus, 3 eyes [2 - Right eyes & 1 - Left eye] i.e.15% have advanced keratoconus, 12 eyes [Right eye - 6 & Left eye - 6] i.e. 30% have VKC & Keratoconus, 1 eye have acute hydrops. Total family members screened 55, out of that 17 members are fathers, 20 members are mothers, 12 members are brothers and 6 are sisters

  6. Association between previously unknown connective tissue disease and subclinical hypothyroidism diagnosed during first trimester of pregnancy.

    Science.gov (United States)

    Beneventi, Fausta; Locatelli, Elena; Alpini, Claudia; Lovati, Elisabetta; Ramoni, Véronique; Simonetta, Margherita; Cavagnoli, Chiara; Spinillo, Arsenio

    2015-11-01

    To investigate the presence of autoimmune rheumatic disorders among women with autoimmune thyroid disorders diagnosed during the first trimester of pregnancy and subsequent pregnancy outcomes. Case-control study. Tertiary obstetric and gynecologic center. Pregnant women in the first trimester of pregnancy. Clinical, laboratory, ultrasonographic evaluations. Thyroid-stimulating hormone (TSH) level; antibodies against thyroperoxidase, thyroid globulin and TSH receptor detection; screening for rheumatic symptoms and antinuclear antibodies (ANA); uterine artery pulsatility index evaluation; pregnancy complication onset. Out of 3,450 women enrolled, 106 (3%) were diagnosed with autoimmune thyroid disorders. ANA were present in 18 (16.9%) of 106 cases and 26 (12.6%) of 206 controls. Of the cases, 28 (26.4%) of 106 reported rheumatic symptoms, 5 of these were diagnosed with Sjögren syndrome or with undefined connective tissue disease. Autoimmune thyroid diseases are statistically significantly associated with a higher risk of preeclampsia, fetal growth restriction, and overall pregnancy complications compared with controls, with a higher uterine artery pulsatility index, suggesting a defective placentation in thyroid disorders. The effect of ANA-positivity on moderate/severe adverse pregnancy outcomes was statistically significant among the patients with thyroid disorders (9 of 18 as compared to 8 of 88, odds ratio 9.65; 95% confidence interval, 2.613-7.81). Connective tissue diseases are frequently associated with autoimmune thyroid disorders diagnosed during the first trimester of pregnancy. Thyroid autoimmunity and ANA positivity independently increased the risk of adverse pregnancy outcomes. Copyright © 2015 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  7. Bulimia nervosa patient diagnosed with previously unsuspected ADHD in adulthood: clinical case report, literature review, and diagnostic challenges.

    Science.gov (United States)

    Ioannidis, Konstantinos; Serfontein, Jaco; Müller, Ulrich

    2014-05-01

    There is increasing literature suggesting a link between attention-deficit hyperactivity disorder (ADHD) and eating disorders (EDs), especially bulimia nervosa. ADHD is under-diagnosed in girls and children of high intelligence are typically missed. We identified a case of a 23-year-old woman suffering from severe bulimia nervosa and previously unsuspected ADHD in adulthood; we diagnosed and treated her with extended-release methylphenidate. We performed a literature review on the ADHD and bulimia nervosa comorbidity. We discuss the reasons why her ADHD remained undiagnosed and the difficulties in diagnosing ADHD in patients with EDs. We suggest that identifying comorbid ADHD is crucial for these patients and argue for the use of a structured interview, collateral history and investigation of onset of symptoms to establish a diagnosis of ADHD in adults with bulimia nervosa. Comorbidities and overlap of symptomatology need to be taken into account. Copyright © 2013 Wiley Periodicals, Inc.

  8. Sun-related behaviors among individuals previously diagnosed with non-melanoma skin cancer.

    Science.gov (United States)

    Nahar, Vinayak K; Ford, M Allison; Jacks, Stephanie K; Thielen, Scott P; Johnson, Andrea K; Brodell, Robert T; Bass, Martha A

    2015-01-01

    Compared to the general population, the risk of developing non-melanoma skin cancer is considerably higher among individuals with a previous history of this condition. Protection from ultraviolet (UV) radiation is the primary evidence-based approach for minimizing this risk. This review was aimed to assess the prevalence of sun-safe behaviors in non-melanoma skin cancer survivors. Searches were conducted in six electronic databases including PubMed, Psyclnfo, CINAHL, EMBASE, ERIC and Science Direct. A narrative approach was adopted to synthesize the data. The findings demonstrated that respondents do not protect themselves optimally from UV radiation exposure. Low levels of perceived skin cancer risk, a lack of knowledge about effective sun protection strategies and the inconvenience associated with sun-safe behaviors appear to explain this finding. A note of caution is required here, as there is a potential for publication bias. Moreover, the results of this study cannot be generalized to all non-melanoma skin cancer patients. Skin cancer survivors must be educated about their increased risk of future skin cancers. Behavioral interventions must be developed to increase the adoption of skin protective behaviors in this high-risk population group.

  9. Sun-related behaviors among individuals previously diagnosed with non-melanoma skin cancer

    Directory of Open Access Journals (Sweden)

    Vinayak K Nahar

    2015-01-01

    Full Text Available Compared to the general population, the risk of developing non-melanoma skin cancer is considerably higher among individuals with a previous history of this condition. Protection from ultraviolet (UV radiation is the primary evidence-based approach for minimizing this risk. This review was aimed to assess the prevalence of sun-safe behaviors in non-melanoma skin cancer survivors. Searches were conducted in six electronic databases including PubMed, Psyclnfo, CINAHL, EMBASE, ERIC and Science Direct. A narrative approach was adopted to synthesize the data. The findings demonstrated that respondents do not protect themselves optimally from UV radiation exposure. Low levels of perceived skin cancer risk, a lack of knowledge about effective sun protection strategies and the inconvenience associated with sun-safe behaviors appear to explain this finding. A note of caution is required here, as there is a potential for publication bias. Moreover, the results of this study cannot be generalized to all non-melanoma skin cancer patients. Skin cancer survivors must be educated about their increased risk of future skin cancers. Behavioral interventions must be developed to increase the adoption of skin protective behaviors in this high-risk population group.

  10. Diagnoses, Relational Processes and Resourceful Dialogs: Tensions for Families and Family Therapy.

    Science.gov (United States)

    Strong, Tom

    2015-09-01

    The Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-5), given its psychiatric focus on mental disorders in individuals, presents families and family therapists with challenges. Despite considerable controversies over its adoption, the DSM-5 extends a process of standardizing a language for human and relational concerns. No longer a diagnostic language of professionals alone, its use is medicalizing how mental health funders and administrators, as well as clients, respond to human concerns. For family therapists who practice systemically, particularly from poststructuralist and strengths-based orientations, many tensions can follow when use of the DSM-5 is expected by mental health administrators and funders, or by clients who present concerns about themselves or a diagnosed family member. In this paper, I explore how such DSM-5 related tensions might be recognized, navigated, and negotiated in the practice of family therapy with clients, and with administrators and funders. © 2015 Family Process Institute.

  11. Beyond diagnoses: family medicine core themes in student reflective writing.

    Science.gov (United States)

    Bradner, Melissa K; Crossman, Steven H; Gary, Judy; Vanderbilt, Allison A; VanderWielen, Lynn

    2015-03-01

    We share qualitative study results of third-year medical student writings during their family medicine clerkship utilizing a reflective writing exercise from 2005 and 2013. For this paper, 50 student writings were randomly selected from the 2005 cohort in addition to 50 student writings completed by the 2013 cohort. Deductive thematic analysis utilizing Atlas.ti software was completed utilizing the Future of Family Medicine core attributes of family physicians as the a priori coding template. Student writings actively reflect key attributes of family physicians as described by the Future of Family Medicine Report: a deep understanding of the dynamics of the whole person, a generative impact on patients' lives, a talent for humanizing the health care experience, and a natural command of complexity and multidimensional access to care. We discuss how to lead the writing exercise and provide suggestions for facilitating the discussion to bring out these important aspects of family medicine care.

  12. The Case of a Mother Who Was Also Diagnosed with Familial Mediterranean Fever Following Her Children s Diagnoses

    Directory of Open Access Journals (Sweden)

    Onur Ozturk

    2016-07-01

    Full Text Available Familial Mediterranean fever (FMF is an autosomal recessive disease that manifests itself with periodic fever, stomach ache, chest pain, and skin lesions such as erythema. Although it can be seen in adults, it is most often a childhood disease with symptoms generally occurring between 5-15 years of age. This study discusses a patient who had repeating fever, stomach ache, and leg pain attacks and was also diagnosed with FMF after her three children had received the same diagnosis.

  13. Types of cancers diagnosed and the preference of families of adult ...

    African Journals Online (AJOL)

    Types of cancers diagnosed and the preference of families of adult patients with cancer ... Journal Home > Vol 27, No 3 (2017) > ... The rate of cancer diagnosis disclosure acceptance and practice by attendants was low. ... from 32 Countries:.

  14. Unbalanced interchromosomal insertion diagnosed prenatally by FISH, with carrier mother, previously misdiagnosed as having a balanced reciprocal translocation

    Energy Technology Data Exchange (ETDEWEB)

    Yu, M.T.; Leiber, E.; Qazi, Q. [and others

    1994-09-01

    Insertion translocations are rare. A carrier with a balanced insertion translocation is most likely to be detected through offspring with an unbalanced translocation. We with to report a case where a correct diagnosis, made prenatally with FISH, corrected the initial misdiagnosis of the mother in another institute. PDL received an amniotic fluid sample from a 28 y.o. woman (G5P2Sab1TOP1) at 19 wks gestation. The indications were a reported balanced translocation, t(6;13), in the mother and a previous daughter with an unbalanced translocation. Chromosome analysis of the amniocytes showed a female karyotype with an abnormal chr. 13. Since the mother was diagnosed as having t(6;13)(q21;q34), the der(13) in the amniocytes was initially assumed to result from an adjacent segregation of the t(6;13). However, the banding patterns of this abnormal chr. 13 did not fit into the above defined translocation. With FISH and a chr. 13 painting probe, this der(13) was painted in the proximal and the distal thirds, but NOT in the middle region. This indicates that the middle section of the der(13) must have originated from 6q. The banding pattern is compatible with a direct insertion of 6q15 to 6q23.3 into 13q21.2. Thus, the fetus has partial trisomy 6q. After counseling, the mother elected to terminate the pregnancy but later changed her mind. An 8 lb 12 oz baby girl was born at 36 wks. (mother diabetic). Chromosome analysis of the newborn blood confirmed the dx. The mother was studied, using multicolor painting probes for chromosomes 13 and 6, a balanced direct insertion of 6q15 to 6q23.3 into chr. 13q21.2 was clearly shown. The previous affected daughter with a 13q+ is now 4 y.o. (a restudy is planned). She has microcephaly, severe developmental delay and other dysmorphic features. This case illustrates the advantage of using FISH to arrive at a definitive diagnosis of an insertion translocation.

  15. Siblings’ Perceptions of Their ADHD-Diagnosed Sibling’s Impact on the Family System

    Directory of Open Access Journals (Sweden)

    Kerry King

    2016-09-01

    Full Text Available This qualitative study explored siblings’ perceptions of the impact a sibling diagnosed with ADHD has within the family system. Specific focus was placed on the different ways these different sibling cohorts were parented. Participants constituted eight adult females with a mean age of 20 years from different cultural and socio-economic backgrounds in the province of Gauteng, South Africa. Data was collected using semi-structured interviews and was analysed thematically. The four themes that emerged from the interviews include differential parental treatment, rejection, discrepancy with discipline, and the parentified child. Specifically, the results of this study revealed feelings of differential parental treatment and discipline that took place in the home and rejection experienced by the non-ADHD sibling. There was also a common theme of a parentified child, who had to carry a burden of caring for their sibling with ADHD. The non-diagnosed siblings perceive themselves to be particularly negatively impacted. The results are discussed in light of the previous empirical studies, and recommendations are made.

  16. [A family history of renal lithiasis in children diagnosed of urinary tract infection by Escherichia coli].

    Science.gov (United States)

    García Nieto, Víctor; Sotoca Fernández, Jorge; O'Hagan, Monica; Arango Sancho, Pedro; Luis Yanes, Maria Isabel

    2017-06-03

    Urinary tract infections (UTI) caused by Escherichia coli (E. coli) are common in patients with idiopathic hypercalciuria. As both UTI and hypercalciuria (prelithiasis) have a genetic basis, we wanted to know whether the family history of urolithiasis is more common in children with UTIs caused by E. coli. Secondarily, we wondered if the renal scars are more common in children with prelithiasis. Ambispective study with collected data from 104 patients (40 male, 64 female) followed after having been diagnosed of UTI by E. coli at least once. These patients were asked about the existence of urolithiasis in relatives. The calcium and citrate urinary elimination was qunatified in 80 children. In the total sample, family history was positive for urolithiasis in a significantly higher frequency in those children (n=71; 68.3%) than in the control population in our area (29.7%; previously published data). Prelithiasis frequency in children with UTI was 47.5% (38/80). An association was observed between the diagnosis of prelithiasis both with family history of urolithiasis (P=.030) and the diagnosis of vesicoureteral reflux (P=.034). Children who developed renal scarring had an increased risk of prelithiasis (OR 5.3; P=.033). The frequency of family history of urolithiasis in children with UTI caused by E. coli is very high. Based on our results we hypothesize that the predisposition to lithiasis can involve a constitutively altered defense to E. coli and, therefore, a greater possibility for renal scars. Copyright © 2017. Publicado por Elsevier España, S.L.U.

  17. Congenital dyserythropoietic anemia type 1 with a novel mutation in the CDAN1 gene previously diagnosed as congenital hemolytic anemia.

    Science.gov (United States)

    Fujino, Hisanori; Doisaki, Sayoko; Park, Young-Dong; Hama, Asahito; Muramatsu, Hideki; Kojima, Seiji; Sumimoto, Shinichi

    2013-05-01

    The congenital dyserythropoietic anemias (CDAs) are a heterogeneous group of genetic disorders of red cell production. They are characterized by ineffective erythropoiesis and dyserythropoiesis. Here, we present the clinical description and mutation analysis of a Japanese female with CDA type 1. She has long been diagnosed with unclassified congenital hemolytic anemia from the neonatal period. However, bone marrow morphology and genetic testing of the CDAN1 gene at the age of 12 years confirmed the afore-mentioned diagnosis. Thus, we should be aware of the possibility of CDA if the etiology of congenital anemia or jaundice cannot be clearly elucidated.

  18. Hydronephrotic Kidney Previously Treated for Tuberculosis: Rare Primary Squamous Cell Carcinoma of Renal Pelvis Diagnosed by Fine-needle Aspiration Cytology

    Directory of Open Access Journals (Sweden)

    Dragica Obad-Kovačević

    2015-09-01

    Full Text Available Primary squamous cell carcinoma (SCC of the renal pelvis is a very rare tumor often associated with renal calculi and chronic infections. There are only a few articles in literature which report renal pelvis SCC in kidneys treated for renal tuberculosis, diagnosed after nephrectomy. We report the case of SCC in a hydronephrotic kidney previously treated for tuberculosis, diagnosed by ultrasound (US-guided fine-needle aspiration cytology (FNAC, prior to core biopsy and nephrectomy. Our report highlights the utility of FNAC and the need for a careful search for renal collecting system tumors, in patients previously treated for renal tuberculosis.

  19. Health and work in the family: Evidence from spouses' cancer diagnoses.

    Science.gov (United States)

    Jeon, Sung-Hee; Pohl, R Vincent

    2017-01-20

    Using Canadian administrative data from multiple sources, we provide the first nationally representative estimates for the effect of spouses' cancer diagnoses on individuals' employment and earnings and on family income. Our identification strategy exploits unexpected health shocks and combines matching with individual fixed effects in a generalized difference-in-differences framework to control for observable and unobservable heterogeneity. While the effect of spousal health shocks on labor supply is theoretically ambiguous, we find strong evidence for a decline in employment and earnings of individuals whose spouses are diagnosed with cancer. We interpret this result as individuals reducing their labor supply to provide care to their sick spouses and to enjoy joint leisure. Family income substantially declines after spouses' cancer diagnoses, suggesting that the financial consequences of such health shocks are considerable.

  20. Do family physicians retrieve synopses of clinical research previously read as email alerts?

    Science.gov (United States)

    Grad, Roland; Pluye, Pierre; Johnson-Lafleur, Janique; Granikov, Vera; Shulha, Michael; Bartlett, Gillian; Marlow, Bernard

    2011-11-30

    A synopsis of new clinical research highlights important aspects of one study in a brief structured format. When delivered as email alerts, synopses enable clinicians to become aware of new developments relevant for practice. Once read, a synopsis can become a known item of clinical information. In time-pressured situations, remembering a known item may facilitate information retrieval by the clinician. However, exactly how synopses first delivered as email alerts influence retrieval at some later time is not known. We examined searches for clinical information in which a synopsis previously read as an email alert was retrieved (defined as a dyad). Our study objectives were to (1) examine whether family physicians retrieved synopses they previously read as email alerts and then to (2) explore whether family physicians purposefully retrieved these synopses. We conducted a mixed-methods study in which a qualitative multiple case study explored the retrieval of email alerts within a prospective longitudinal cohort of practicing family physicians. Reading of research-based synopses was tracked in two contexts: (1) push, meaning to read on email and (2) pull, meaning to read after retrieval from one electronic knowledge resource. Dyads, defined as synopses first read as email alerts and subsequently retrieved in a search of a knowledge resource, were prospectively identified. Participants were interviewed about all of their dyads. Outcomes were the total number of dyads and their type. Over a period of 341 days, 194 unique synopses delivered to 41 participants resulted in 4937 synopsis readings. In all, 1205 synopses were retrieved over an average of 320 days. Of the 1205 retrieved synopses, 21 (1.7%) were dyads made by 17 family physicians. Of the 1205 retrieved synopses, 6 (0.5%) were known item type dyads. However, dyads also occurred serendipitously. In the single knowledge resource we studied, email alerts containing research-based synopses were rarely retrieved

  1. Family Functioning and Maternal Anxiety Among Cases Diagnosed With Adhd: A Comparison Study

    Directory of Open Access Journals (Sweden)

    Gonca OZYURT

    2015-10-01

    Full Text Available Aim: Attention Deficit Hyperactivity Disorder (ADHD is one of the most common childhood neurodevelopmental disorders. Factors related with parents affect family functioning and make changes in ADHD symptoms. We aimed to evaluate maternal anxiety and family functioning in children with ADHD comparing with controls and their mothers. Method: The study group consisted of 62 children (6-12 years old diagnosed with Attention Deficit Hyperactivity Disorder. The control group (62 children comprised patients of other clinics at hospital and was matched for gender and age to the ADHD patients. The Kiddie Schedule for Affective Disorders and Schizophrenia for School Aged Children- Present and Lifetime Version (K-SADS-PL was used to diagnose ADHD and allowed comorbidities. All patients were treatment-naive. DuPaul Attention Deficit and Hyperactivity Disorder-Rating Scale -IV Inventory for ADHD symptoms, Family Assessment Device (FAD for family functioning, State Trait Anxiety Inventory for maternal anxiety were used. Results: There was no significant difference between sociodemographic data of two groups. The families of children with ADHD had more family dysfunction in roles, behavioral control, affective involvement subscales. Mothers of children with ADHD had higher scores than controls in State and Trait Anxiety Inventory forms. Conclusion: ADHD generally continues into adolescence and adulthood, and multiple functional impairments can occur due to ADHD. If the relationship between maternal anxiety; family functioning, and ADHD is understood well, treatment of ADHD will be provided more effectively.

  2. Isochromosome 15q of maternal origin in two Prader-Willi syndrome patients previously diagnosed erroneously as cytogenetic deletions

    Energy Technology Data Exchange (ETDEWEB)

    Saitoh, Shinji; Niikawa, Norio [Nagasaki Univ. School of Medicine (Japan); Mutirangura, A.; Kuwano, A.; Ledbetter, D.H. [Baylor College of Medicine, Houston, TX (United States)

    1994-03-01

    Since a previous report on two Prader-Willi syndrome (PWS) patients with t(15q;15q) was erroneous, the authors report new data and a corrected interpretation. Reexamination of the parental origin of their t(15q;15q) using polymorphic DNA markers that are mapped to various regions of 15q documented no molecular deletions at the 15q11-q13 region in either patient. Both patients were homozygous at all loci examined and their haplotypes on 15q coincided with one of those in their respective mothers. These results indicate that the presumed t(15q;15q) in each patient was actually an isochromosome 15q producing maternal uniparental disomy, consistent with genomic imprinting at the PWS locus. 30 refs., 1 fig., 3 tabs.

  3. Striving to survive: families' lived experiences when a child is diagnosed with cancer.

    Science.gov (United States)

    Björk, Maria; Wiebe, Thomas; Hallström, Inger

    2005-01-01

    When a child is ill with cancer, this affects the whole family for long periods. The aim of this study was to elucidate the family's lived experience when a child in the family was diagnosed with cancer. A descriptive inductive design with a hermeneutic phenomenological approach including interviews with 17 families (parents, children, and siblings) was chosen. The families' lived experience was described as a 2-fold essential theme comprising "a broken life world" and an immediate "striving to survive." The families' secure everyday life disappeared and was replaced by fear, chaos, and loneliness. When striving to make the child and the family survive, family members strove to feel hope and have a positive focus, to gain control, and to feel close to other people. Phenomenological human science research can deepen the understanding of the meaning of being a family with a child who is ill with cancer and can help pediatric oncology staff become increasingly thoughtful, and thus better prepared to take action to diminish the chaos occurring in the family.

  4. Truth disclosure of cancer diagnoses and its influence on bereaved Japanese families.

    Science.gov (United States)

    Mizuno, Michiyo; Onishi, Chiemi; Ouishi, Fumiko

    2002-10-01

    The purpose of this study was to investigate how patients with cancer and their families are informed of the results of the patients' diagnoses. The bereaved families' assessments and satisfaction with the consequences of their decisions were examined after the patients' deaths. Data were collected from the bereaved families of 53 patients who had died of lung cancer at a Japanese university hospital between January 1994 and December 1997. Data were analyzed by employing descriptive statistics for each factor. Fifty-three bereaved families responded to the questionnaire. The true diagnosis-lung cancer-was disclosed to 15.1% of the patients, whereas 26.4% were told that they were suffering from lung tumors. Other less ominous clinical descriptions were given to 58.5% of the participants. Concerning the bereaved families' responses to the manner in which the decisions had been made on truth disclosure, the average degree of satisfaction was expressed as 3.7 cm on a 5.0-cm scale. An ambiguous expression such as "lung tumor" has been arbitrarily interpreted. However, simple truth disclosure to the patient does not necessarily satisfy a bereaved family. If family members can allay a patient's doubt about the diagnosis, the family's satisfaction may improve.

  5. Single Nucleotide Variants Associated With Polygenic Hypercholesterolemia in Families Diagnosed Clinically With Familial Hypercholesterolemia.

    Science.gov (United States)

    Lamiquiz-Moneo, Itziar; Pérez-Ruiz, María Rosario; Jarauta, Estíbaliz; Tejedor, María Teresa; Bea, Ana M; Mateo-Gallego, Rocío; Pérez-Calahorra, Sofía; Baila-Rueda, Lucía; Marco-Benedí, Victoria; de Castro-Orós, Isabel; Cenarro, Ana; Civeira, Fernando

    2017-09-14

    Approximately 20% to 40% of clinically defined familial hypercholesterolemia cases do not show a causative mutation in candidate genes, and some of them may have a polygenic origin. A cholesterol gene risk score for the diagnosis of polygenic hypercholesterolemia has been demonstrated to be valuable to differentiate polygenic and monogenic hypercholesterolemia. The aim of this study was to determine the contribution to low-density lipoprotein cholesterol (LDL-C) of the single nucleotide variants associated with polygenic hypercholesterolemia in probands with genetic hypercholesterolemia without mutations in candidate genes (nonfamilial hypercholesterolemia genetic hypercholesterolemia) and the genetic score in cascade screening in their family members. We recruited 49 nonfamilial hypercholesterolemia genetic hypercholesterolemia families (294 participants) and calculated cholesterol gene scores, derived from single nucleotide variants in SORT1, APOB, ABCG8, APOE and LDLR and lipoprotein(a) plasma concentration. Risk alleles in SORT1, ABCG8, APOE, and LDLR showed a statistically significantly higher frequency in blood relatives than in the 1000 Genomes Project. However, there were no differences between affected and nonaffected members. The contribution of the cholesterol gene score to LDL-C was significantly higher in affected than in nonaffected participants (P = .048). The percentage of the LDL-C variation explained by the score was 3.1%, and this percentage increased to 6.9% in those families with the highest genetic score in the proband. Nonfamilial hypercholesterolemia genetic hypercholesterolemia families concentrate risk alleles for high LDL-C. Their contribution varies greatly among families, indicating the complexity and heterogeneity of these forms of hypercholesterolemias. The gene score explains a small percentage of LDL-C, which limits its use in diagnosis. Copyright © 2017 Sociedad Española de Cardiología. Published by Elsevier España, S.L.U. All

  6. Risk for High Depressive Symptoms in Diagnosed and Previously Undetected Diabetes: 5-Year Follow-Up Results of the Heinz Nixdorf Recall Study

    Science.gov (United States)

    Icks, Andrea; Albers, Bernd; Haastert, Burkhard; Pechlivanis, Sonali; Pundt, Noreen; Slomiany, Uta; Erbel, Raimund; Jöckel, Karl-Heinz; Kruse, Johannes; Kulzer, Bernd; Nowotny, Bettina; Herder, Christian; Giani, Guido; Moebus, Susanne

    2013-01-01

    Objective The objective of this study was to determine the risk for the development of high depressive symptoms in study participants with diagnosed and previously undetected diabetes mellitus compared to those without diabetes in a prospective population-based cohort study in Germany. Methods We estimated the 5-year cumulative incidence of high depressive symptoms in participants without high depressive symptoms at baseline (n = 3,633, 51.4% men, mean age (SD) 59.1 (7.6) years, 7.0% diagnosed diabetes, 5.3% previously undetected diabetes) from the population-based Heinz Nixdorf Recall study. Diabetes was assessed by self-report, medication, and blood glucose. High depressive symptoms were assessed using CES-D. We calculated odds ratios and their corresponding 95% confidence interval, using multiple logistic regression analyses. Result Cumulative 5-year incidences (95% CI) of high depressive symptoms in participants with diagnosed, undetected, and without diabetes were 7.1 (4.2–10.9), 4.1 (1.8–8.0), and 6.5 (5.6–7.4), respectively. The age-sex-adjusted OR for developing high depressive symptoms was 1.22 (0.74–2.03) in participants with diagnosed compared to those without diabetes, and 1.00 (0.59–1.68) after adjustment for BMI, physical activity, education, stroke, and myocardial infarction. The age-sex adjusted OR for developing high depressive symptoms in participants with previously undetected diabetes compared to those without diabetes was 0.72; 0.35–1.48; and fully adjusted 0.62; 0.30–1.30. Conclusion We found no significant associations, maybe due to low power. However, our results are in line with a recent meta-analysis suggesting that risk of developing high depressive symptoms in patients with diagnosed diabetes may be moderately higher than in those without diabetes, and that comorbidity may explain in part this association. In participants with previously undetected diabetes, this first longitudinal study indicates that the risk is not

  7. Risk for high depressive symptoms in diagnosed and previously undetected diabetes: 5-year follow-up results of the Heinz Nixdorf Recall study.

    Directory of Open Access Journals (Sweden)

    Andrea Icks

    Full Text Available OBJECTIVE: The objective of this study was to determine the risk for the development of high depressive symptoms in study participants with diagnosed and previously undetected diabetes mellitus compared to those without diabetes in a prospective population-based cohort study in Germany. METHODS: We estimated the 5-year cumulative incidence of high depressive symptoms in participants without high depressive symptoms at baseline (n = 3,633, 51.4% men, mean age (SD 59.1 (7.6 years, 7.0% diagnosed diabetes, 5.3% previously undetected diabetes from the population-based Heinz Nixdorf Recall study. Diabetes was assessed by self-report, medication, and blood glucose. High depressive symptoms were assessed using CES-D. We calculated odds ratios and their corresponding 95% confidence interval, using multiple logistic regression analyses. RESULT: Cumulative 5-year incidences (95% CI of high depressive symptoms in participants with diagnosed, undetected, and without diabetes were 7.1 (4.2-10.9, 4.1 (1.8-8.0, and 6.5 (5.6-7.4, respectively. The age-sex-adjusted OR for developing high depressive symptoms was 1.22 (0.74-2.03 in participants with diagnosed compared to those without diabetes, and 1.00 (0.59-1.68 after adjustment for BMI, physical activity, education, stroke, and myocardial infarction. The age-sex adjusted OR for developing high depressive symptoms in participants with previously undetected diabetes compared to those without diabetes was 0.72; 0.35-1.48; and fully adjusted 0.62; 0.30-1.30. CONCLUSION: We found no significant associations, maybe due to low power. However, our results are in line with a recent meta-analysis suggesting that risk of developing high depressive symptoms in patients with diagnosed diabetes may be moderately higher than in those without diabetes, and that comorbidity may explain in part this association. In participants with previously undetected diabetes, this first longitudinal study indicates that the risk is not

  8. Varenicline precipitating psychosis in a patient with no previous psychiatric history: a case report of a Spanish patient who was later diagnosed with paranoid personality disorder.

    Science.gov (United States)

    Forcen, Fernando Espi; Martinez, Fernando Luis Espi; Moya, Amparo Martinez

    2012-01-01

    Varenicline is gaining popularity for the treatment of nicotine dependence. General treatment guidelines recommend monitoring for behavioral changes in patients with a mental illness. There are very few cases reported on patients developing psychiatric symptoms with no previous history. We are reporting the case of a Spanish patient who had developed a first-psychotic episode after he was started on varenicline. He was ultimately diagnosed with a paranoid personality disorder. Therefore, prior to starting a patient on varenicline, the clinician must identify possible paranoid and other cluster A personality traits. It is essential to monitor for new onset of psychotic symptoms during the treatment with this drug.

  9. Familial Mediterranean Fever: Diagnosing as Early as 3 Months of Age

    Directory of Open Access Journals (Sweden)

    Gonca Keskindemirci

    2014-01-01

    Full Text Available Familial Mediterranean Fever is an autosomal recessive disease. Major symptoms of disease are recurrent fever accompanied by serositis attacks. The disease is usually diagnosed before 20 years of age. Symptoms related to FMF are noted when children become more verbal, usually after 2 years of age. In this case report, the youngest patient with the diagnosis of FMF is presented. She was consulted to pediatric rheumatology for the high acute phase response and fever. It was learned that her mother had recurrent swelling of her ankle joints. Mutation analysis was performed and two homozygous mutations (M694V and R202Q were identified. She was diagnosed as FMF at 3 months of age and colchicine was started. She responded to colchicine. Her uncontrolled acute phase response declined gradually. This case was reported to point out the importance of early remembrance of autoinflammatory diseases even at very early ages especially at endemic countries.

  10. Effects of Family Violence on Psychopathology Symptoms in Children Previously Exposed to Maltreatment

    Science.gov (United States)

    Maikovich, Andrea Kohn; Jaffee, Sara R.; Odgers, Candice L.; Gallop, Robert

    2008-01-01

    Although many studies suggest that family violence is associated with child psychopathology, multiple features of the home environment might account for this association, such as poverty and caregiver psychopathology. Studies are needed examining how change in psychopathology symptoms is affected by home violence, controlling for children's own…

  11. Effects of Family Violence on Psychopathology Symptoms in Children Previously Exposed to Maltreatment

    Science.gov (United States)

    Maikovich, Andrea Kohn; Jaffee, Sara R.; Odgers, Candice L.; Gallop, Robert

    2008-01-01

    Although many studies suggest that family violence is associated with child psychopathology, multiple features of the home environment might account for this association, such as poverty and caregiver psychopathology. Studies are needed examining how change in psychopathology symptoms is affected by home violence, controlling for children's own…

  12. The family roles of siblings of people diagnosed with a mental disorder: heroes and lost children.

    Science.gov (United States)

    Sanders, Avihay; Szymanski, Kate; Fiori, Kate

    2014-08-01

    In order to cope with the diagnosis of mental illness in a family member, siblings may be forced to adjust their roles in the family. Taking into account the crucial role that some siblings play in caregiving for the mentally ill especially when the parents are no longer available, it is imperative to develop awareness of their unique needs and address them. Thirty-three adult siblings of people diagnosed with a mental disorder completed the Role Behaviour Inventory (RBI) and a general questionnaire including open-ended questions regarding the roles they played in their families of origin. Findings from the inventory and general questionnaire suggest that the well siblings score higher on two roles, the Hero and Lost Child, and lower on the Mascot and Scapegoat roles relative to a comparison group (N = 33). Being a sibling caregiver emerged as a risk factor to assume certain dysfunctional roles in the family. Implications for future research and therapy are discussed. © 2013 International Union of Psychological Science.

  13. Effects of Family Violence on Psychopathology Symptoms in Children Previously Exposed to Maltreatment

    OpenAIRE

    Maikovich, Andrea Kohn; Jaffee, Sara R; Odgers, Candice L.; Gallop, Robert

    2008-01-01

    Although many studies suggest that family violence is associated with child psychopathology, multiple features of the home environment might account for this association, such as poverty and caregiver psychopathology. Studies are needed examining how change in psychopathology symptoms is affected by home violence, controlling for children's own developmental symptom histories and other predictors of psychopathology. This study used latent difference score structural equation modeling to test ...

  14. Accuracy of the QuantiFERON-TB Gold in Tube for diagnosing tuberculosis in a young pediatric population previously vaccinated with Bacille Calmette-Guerin

    Directory of Open Access Journals (Sweden)

    Marcelo Genofre Vallada

    2014-03-01

    Full Text Available Objective: To evaluate the accuracy of an interferongamma release assay (QuantiFERON-TB Gold in Tube for diagnosing Mycobacterium tuberculosis infection in a young pediatric population. Methods: 195 children previously vaccinated with BCG were evaluated, being 184 healthy individuals with no clinical or epidemiological evidence of mycobacterial infection, and 11 with Mycobacterium tuberculosis infection, according to clinical, radiological, and laboratory parameters. A blood sample was obtained from each child and processed according to the manufacturer's instructions. The assay performance was evaluated by a Receiver Operating Characteristic (ROC curve. Results: In the group of 184 non-infected children, 130 (70.6% were under the age of four years (mean age of 35 months. In this group, 177 children (96.2% had negative test results, six (3.2% had indeterminate results, and one (0.5% had a positive result. In the group of 11 infected children, the mean age was 58.5 months, and two of them (18% had negative results. The ROC curve had an area under the curve of 0.88 (95%CI 0.82-0.92; p<0.001, disclosing a predictive positive value of 81.8% for the test (95%CI 46.3-97.4. The assay sensitivity was 81.8% (95%CI 48.2-97.2 and the specificity was 98.8% (95%CI 96-99.8. Conclusions: In the present study, the QuantiFERON-TB Gold in Tube performance for diagnosing M. tuberculosis infection was appropriate in a young pediatric population.

  15. Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.

    Science.gov (United States)

    Bourchany, Aurélie; Thauvin-Robinet, Christel; Lehalle, Daphné; Bruel, Ange-Line; Masurel-Paulet, Alice; Jean, Nolwenn; Nambot, Sophie; Willems, Marjorie; Lambert, Laetitia; El Chehadeh-Djebbar, Salima; Schaefer, Elise; Jaquette, Aurélia; St-Onge, Judith; Poe, Charlotte; Jouan, Thibaud; Chevarin, Martin; Callier, Patrick; Mosca-Boidron, Anne-Laure; Laurent, Nicole; Lefebvre, Mathilde; Huet, Frédéric; Houcinat, Nada; Moutton, Sébastien; Philippe, Christophe; Tran-Mau-Them, Frédéric; Vitobello, Antonio; Kuentz, Paul; Duffourd, Yannis; Rivière, Jean-Baptiste; Thevenon, Julien; Faivre, Laurence

    2017-08-12

    Whole-exome sequencing (WES) has now entered medical practice with powerful applications in the diagnosis of rare Mendelian disorders. Although the usefulness and cost-effectiveness of WES have been widely demonstrated, it is essential to reduce the diagnostic turnaround time to make WES a first-line procedure. Since 2011, the automation of laboratory procedures and advances in sequencing chemistry have made it possible to carry out diagnostic whole genome sequencing from the blood sample to molecular diagnosis of suspected genetic disorders within 50 h. Taking advantage of these advances, the main objective of the study was to improve turnaround times for sequencing results. WES was proposed to 29 patients with severe undiagnosed disorders with developmental abnormalities and faced with medical situations requiring rapid diagnosis. Each family gave consent. The extracted DNA was sequenced on a NextSeq500 (Illumina) instrument. Data were analyzed following standard procedures. Variants were interpreted using in-house software. Each rare variant affecting protein sequences with clinical relevance was tested for familial segregation. The diagnostic rate was 45% (13/29), with a mean turnaround time of 40 days from reception of the specimen to delivery of results to the referring physician. Besides permitting genetic counseling, the rapid diagnosis for positive families led to two pre-natal diagnoses and two inclusions in clinical trials. This pilot study demonstrated the feasibility of rapid diagnostic WES in our primary genetics center. It reduced the diagnostic odyssey and helped provide support to families. Copyright © 2017. Published by Elsevier Masson SAS.

  16. Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family.

    Science.gov (United States)

    Brouwers, Nathalie; Nuytemans, Karen; van der Zee, Julie; Gijselinck, Ilse; Engelborghs, Sebastiaan; Theuns, Jessie; Kumar-Singh, Samir; Pickut, Barbara A; Pals, Philippe; Dermaut, Bart; Bogaerts, Veerle; De Pooter, Tim; Serneels, Sally; Van den Broeck, Marleen; Cuijt, Ivy; Mattheijssens, Maria; Peeters, Karin; Sciot, Raf; Martin, Jean-Jacques; Cras, Patrick; Santens, Patrick; Vandenberghe, Rik; De Deyn, Peter P; Cruts, Marc; Van Broeckhoven, Christine; Sleegers, Kristel

    2007-10-01

    Progranulin gene (PGRN) haploinsufficiency was recently associated with ubiquitin-positive frontotemporal lobar degeneration linked to chromosome 17q21 (FTLDU-17). To assess whether PGRN genetic variability contributed to other common neurodegenerative brain diseases, such as Alzheimer disease (AD) or Parkinson disease (PD). Mutation analysis of PGRN. Memory Clinic of the Middelheim General Hospital. Patients We analyzed 666 Belgian patients with AD and 255 with PD. Results of PGRN sequencing, PGRN transcript analysis, short tandem repeat genotyping, and neuropathologic analysis. We identified 2 patients with AD and 1 patient with PD who carried the null mutation IVS0 + 5G>C, which we reported earlier in an extensively characterized Belgian founder family, DR8, segregating FTLDU. Postmortem pathologic diagnosis of the patient with PD revealed both FTLDU and Lewy body pathologic features. In addition, we identified in PGRN only 1 other null mutation, the nonsense mutation p.Arg535X, in 1 patient with probable AD. However, in vitro analysis predicted a PGRN C-truncated protein, although it remains to be elucidated if this shortened transcript leads to haploinsufficiency. Our mutation data indicated that null mutations are rare in patients with AD (3/666 = 0.45%) and PD (1/255 = 0.39%). Also, AD and PD clinical diagnoses in patients who carry PGRN null mutations likely result from etiologic heterogeneity rather than PGRN haploinsufficiency.

  17. [L-2 hydroxyglutaric aciduria: presentation of a family diagnosed in adulthood].

    Science.gov (United States)

    Adeva-Bartolomé, M T; Ribes, A; Zurdo, J M; Salomons, G

    2009-06-01

    Introduction. Organic acidurias are a group of hereditary metabolic disorders characterized by an increase in excretion of organic acids in urine. L-2 hydroxyglutaric aciduria is a neurodegenerative disorder with insidious onset after infancy, which is likely inherited in an autosomal recessive mode, characterized by mental retardation, progressive ataxia, epilepsy, macrocephaly, pyramidalism and extrapyramidal symptoms in variable combinations, with subcortical encephalopathy and cerebral atrophy in neuroimaging studies. Biochemical diagnosis was based on the detection of high levels of L-2 hydroxyglutaric acid in body fluids. Clinical case. We present the case of a 42 year old male patient with psychomotor development delay, generalized tonic epileptic crisis, and ataxia and pyramidal syndrome after the age of 18 months. Neuroimaging study findings revealed subcortical leukoencephalopathy. Diagnosis of the disease was reached after measuring the level of L-2 hydroxyglutaric acid in body fluid (blood, urine and cerebrospinal fluid). This diagnosis was also confirmed in three of the patient's brothers who were affected by a non-filial neurological disease by measurement of this acid level in urine. The genetic study was performed in all the cases. Discussion. As with the majority of patients who reach adulthood without having been diagnosed of this disease during infancy, we believe that this disorder should be considered as a possibility in adults presenting a combination of the symptoms described and subcortical encephalopathy in magnetic resonance imaging, regardless of whether there is a family background of it. Thus, it should be included in the differential diagnosis of leukodystrophy in adult patients.

  18. Familial occurrence of epilepsy in children with newly diagnosed multiple seizures : Dutch study of epilepsy in childhood

    NARCIS (Netherlands)

    Callenbach, PMC; Geerts, AT; Arts, WFM; van Donselaar, CA; Peters, A.C. Boudewyn; Stroink, H; Brouwer, OF

    Purpose: To study the familial occurrence of epilepsy in children with newly diagnosed multiple unprovoked seizures. Methods: Between August 1988 and September 1992, 462 children with two or more unprovoked seizures were included in the prospective Dutch Study of Epilepsy in Childhood. Seizures and

  19. Previously known and newly diagnosed atrial fibrillation: a major risk indicator after a myocardial infarction complicated by heart failure or left ventricular dysfunction

    DEFF Research Database (Denmark)

    Køber, Lars; Swedberg, Karl; McMurray, John J V

    2006-01-01

    AIMS: To characterize the relationship between known and newly diagnosed atrial fibrillation (AF) and the risk of death and major cardiovascular (CV) events in patients with acute myocardial infarction (MI) complicated by heart failure (HF) and/or left ventricular systolic dysfunction (LVSD). MET...

  20. Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: report of a novel mutation of the PCNT gene.

    Science.gov (United States)

    Piane, Maria; Della Monica, Matteo; Piatelli, Gianluca; Lulli, Patrizia; Lonardo, Fortunato; Chessa, Luciana; Scarano, Gioacchino

    2009-11-01

    We report on a 3-year-old boy with prenatal onset of proportionate dwarfism, postnatal severe microcephaly, high forehead with receded hairline, sparse scalp hair, beaked nose, mild retrognathia and hypotonia diagnosed at birth as Seckel syndrome. At age 3 years, he became paralyzed due to a cerebrovascular malformation. Based on the clinical and radiological features showing evidence of skeletal dysplasia, the diagnosis was revised to Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome. Western blot analysis of the patient's lymphoblastoid cell line lysate showed the absence of the protein pericentrin. Subsequent molecular analysis identified a novel homozygous single base insertion (c.1527_1528insA) in exon 10 of the PCNT gene, which leads to a frameshift (Treo510fs) and to premature protein truncation. PCNT mutations must be considered diagnostic of MOPD II syndrome. A possible role of pericentrin in the development of cerebral vessels is suggested. Copyright 2009 Wiley-Liss, Inc.

  1. How Are Arrhythmias Diagnosed?

    Science.gov (United States)

    ... page from the NHLBI on Twitter. How Are Arrhythmias Diagnosed? Arrhythmias can be hard to diagnose, especially the types ... symptoms every once in a while. Doctors diagnose arrhythmias based on medical and family histories, a physical ...

  2. Evaluation of the MEFV gene mutations and clinical symptoms in186 patients diagnosed as familial Mediterranean fever

    Directory of Open Access Journals (Sweden)

    Mahmut Abuhandan

    2015-03-01

    Full Text Available Objective: This retrospective study aimed to evaluate the clinical symptoms and the MEFV mutation ratios of the 186 patients diagnosed as Familial Mediterranean Fever. Methods: Age, sex, admission symptoms, family history, and the MEFV mutation test cases of the 186 patients followed as Familial Mediterranean Fever were evaluated retrospectively. MEFV gene was analyzed with DNA sequence analysis after amplifying the exons 1.-10. using PCR method. Results: There were 84 male and 102 female in the study, and the mean age was 9.45 ± 4.40 years. 26.9% of the patients had close relationship between the parents, and 25.8% had a family history of AAA. The most common symptoms were abdominal pain (92.5%, fever (89.2%, and arthralgia (24.2% respectively. The most common mutations were R202Q (33.3%, M694V (22.6%, E148Q (22%, V726A (7.5%, R761H (4.3%, M680I (3.8%, and the others (6.5% respectively. 21.5% homozygous, 67.7% heterozygous, and 10.8% compound heterozygous mutations of AAA were detected. Conclusion: FMF is a common disease in our country and has difficulties in the differential diagnosis. In recent years molecular genetically methods are considered more commonly for the diagnosis. The results of this study showed that our AAA patients have a wide range of mutations, and supported the heterogeneity of MEFV gene mutations in AAA.

  3. ergm: A Package to Fit, Simulate and Diagnose Exponential-Family Models for Networks

    Directory of Open Access Journals (Sweden)

    David R. Hunter

    2008-12-01

    Full Text Available We describe some of the capabilities of the ergm package and the statistical theory underlying it. This package contains tools for accomplishing three important, and inter-related, tasks involving exponential-family random graph models (ERGMs: estimation, simulation, and goodness of fit. More precisely, ergm has the capability of approximating a maximum likelihood estimator for an ERGM given a network data set; simulating new network data sets from a fitted ERGM using Markov chain Monte Carlo; and assessing how well a fitted ERGM does at capturing characteristics of a particular network data set.

  4. Neighbourhood Deprivation, Individual-Level Familial and Socio-Demographic Factors and Diagnosed Childhood Obesity: A Nationwide Multilevel Study from Sweden

    Directory of Open Access Journals (Sweden)

    Xinjun Li

    2014-08-01

    Full Text Available Objectives: To examine whether there is an association between neighbourhood deprivation and diagnosed childhood obesity, after accounting for family- and individual-level socio-demographic characteristics. Methods: An open cohort of all children aged 0-14 years was followed between January 1, 2000 and December 31, 2010. Childhood residential locations were geocoded and classified according to neighbourhood deprivation. Data were analysed by multilevel logistic regression, with family- and individual-level characteristics at the first level and level of neighbourhood deprivation at the second level. Results: During the study period, among a total of 948,062 children, 10,799 were diagnosed with childhood obesity. Age-adjusted cumulative incidence for diagnosed childhood obesity increased with increasing level of neighbourhood deprivation. Incidence of diagnosed childhood obesity increased with increasing neighbourhood-level deprivation across all family and individual-level socio-demographic categories. The odds ratio (OR for diagnosed childhood obesity for those living in high-deprivation neighbourhoods versus those living in low-deprivation neighbourhoods was 2.44 (95% confidence interval (CI = 2.22-2.68. High neighbourhood deprivation remained significantly associated with higher odds of diagnosed childhood obesity after adjustment for family- and individual-level socio-demographic characteristics (OR = 1.70, 95% CI = 1.55-1.89. Age, middle level family income, maternal marital status, low level education, living in large cities, advanced paternal and maternal age, family history of obesity, parental history of diabetes, chronic obstructive pulmonary disease, alcoholism and personal history of diabetes were all associated with higher odds of diagnosed childhood obesity. Conclusions: Our results suggest that neighbourhood characteristics affect the odds of diagnosed childhood obesity independently of family- and individual-level socio

  5. Parasitological and Molecular Observations on a Little Family Outbreak of Human Fasciolosis Diagnosed in Italy

    Directory of Open Access Journals (Sweden)

    Simona Gabrielli

    2014-01-01

    Full Text Available In the year 2010, three children who were born in a Romanian cattle farmer family went to Italy to join their mother. One of them was admitted to an Italian pediatric hospital for severe anemia that, when she was in her country, had been treated with blood transfusion. Blood tests and an abdominal ultrasound study triggered the suspicion of biliary parasitosis. The child underwent a cholangiopancreatography that caused the release of parasitic material microscopically identified as Fasciola hepatica. All children and their mother were submitted to coproparasitological analyses, which identified F. hepatica eggs only in the patient and in her twin sister. Parasitic materials recovered and flatworm specimens by us ad hoc obtained from Italian and Romanian cattle were genetically (ITS and COI genes analyzed, and their sequences were compared with those deposited in GenBank. Specimens from children clustered with the Romanian strain examined and showed remarkable genetic differences with flatworm specimens from Italy. Anamnesis, parasite biology, and genetic data strongly suggest that twin sisters became infected in Romania; however, human fasciolosis is an emerging sanitary problem, favored by climate changes and global drivers; therefore, it deserves more attention on behalf of physicians working in both developing and developed countries.

  6. The effect of recurrent seizures on cognitive, behavioral, and quality-of-life outcomes after 12 months of monotherapy in adults with newly diagnosed or previously untreated partial epilepsy.

    Science.gov (United States)

    Lee, Sang-Ahm; Kim, Min Ju; Lee, Hyang-Woon; Heo, Kyoung; Shin, Dong-Jin; Song, Hong-Ki; Kim, Ok-Joon; Kim, Seon-Ok; Lee, Byung-In

    2015-12-01

    The purpose of this study was to determine whether seizure recurrence has a negative impact on cognition, psychological function, and health-related quality of life (HRQoL) over a 12-month period of monotherapy in adults with newly diagnosed or previously untreated partial epilepsy. Seizure freedom (SF) was defined as no seizure recurrence during the 40-week maintenance period of medication. Neuropsychological tests, the Symptom Checklist-90 (SCL-90), and the Quality of Life in Epilepsy-31 (QOLIE-31) were administered at baseline and after 48 weeks of carbamazepine or lamotrigine monotherapy. Seventy-three patients successfully continued treatment until the 48-week follow-up time point. Fifty patients (68.5%) had SF, and the remaining 23 were not seizure-free (NSF). A seizure outcome group-by-time interaction was analyzed using a linear mixed model. A group-by-time interaction was identified for the total QOLIE-31 score (pseizure worry: pseizures had a significant effect on HRQoL, a subtle effect on cognitive performance, and no effect on psychological symptoms over one year in newly diagnosed or previously untreated adults with partial epilepsy. Copyright © 2015 Elsevier Inc. All rights reserved.

  7. Complete Heart Block with Diastolic Heart Failure and Pulmonary Edema Secondary to Enlarging Previously Diagnosed Thrombosed Aneurysm of Sinus of Valsalva in a Patient with History of Autosomal Dominant Polycystic Kidney Disease

    Science.gov (United States)

    Eltawansy, Sherif Ali; Thomas, Maria Joana; Daniels, Jeffrey

    2015-01-01

    Autosomal dominant polycystic kidney disease (ADPKD) is associated with vascular aneurysms that can affect any part of the vascular tree, like ascending aorta or coronary arteries. Sinus of Valsalva is known as an anatomical dilation at the root of aorta above the aortic valve and very few cases show aneurysm at that site in patients with ADPKD. Sinus of Valsalva aneurysm (SVA) can present with rupture and acute heart failure and infective endocarditis or could be asymptomatic accidentally discovered during cardiac catheterization. We report a case of a 76-year-old male with a unique constellation of cardiovascular anomalies associated with ADPKD. Patient was previously diagnosed with aneurysms affecting ascending aorta, sinus of Valsalva, and coronary arteries. Several years later, he came with complete heart block which was discovered later to be secondary to enlargement of his previously diagnosed thrombosed SVA. His case was complicated with acute heart failure and pulmonary edema. Conclusion. Patients with ADPKD can present with extrarenal manifestations. In our case, aneurysm at sinus of Valsalva was progressively enlarging and presented with complete heart block. PMID:25861484

  8. Adaptive-filtering of trisomy 21: risk of Down syndrome depends on family size and age of previous child

    Science.gov (United States)

    Neuhäuser, Markus; Krackow, Sven

    2007-02-01

    The neonatal incidence rate of Down syndrome (DS) is well-known to accelerate strongly with maternal age. This non-linearity renders mere accumulation of defects at recombination during prolonged first meiotic prophase implausible as an explanation for DS rate increase with maternal age, but might be anticipated from chromosomal drive (CD) for trisomy 21. Alternatively, as there is selection against genetically disadvantaged embryos, the screening system that eliminates embryos with trisomy 21 might decay with maternal age. In this paper, we provide the first evidence for relaxed filtering stringency (RFS) to represent an adaptive maternal response that could explain accelerating DS rates with maternal age. Using historical data, we show that the proportion of aberrant live births decrease with increased family size in older mothers, that inter-birth intervals are longer before affected neonates than before normal ones, and that primiparae exhibit elevated levels of DS incidence at higher age. These findings are predicted by adaptive RFS but cannot be explained by the currently available alternative non-adaptive hypotheses, including CD. The identification of the relaxation control mechanism and therapeutic restoration of a stringent screen may have considerable medical implications.

  9. ErpC, a member of the complement regulator-acquiring family of surface proteins from Borrelia burgdorferi, possesses an architecture previously unseen in this protein family.

    Science.gov (United States)

    Caesar, Joseph J E; Johnson, Steven; Kraiczy, Peter; Lea, Susan M

    2013-06-01

    Borrelia burgdorferi is a spirochete responsible for Lyme disease, the most commonly occurring vector-borne disease in Europe and North America. The bacterium utilizes a set of proteins, termed complement regulator-acquiring surface proteins (CRASPs), to aid evasion of the human complement system by recruiting and presenting complement regulator factor H on its surface in a manner that mimics host cells. Presented here is the atomic resolution structure of a member of this protein family, ErpC. The structure provides new insights into the mechanism of recruitment of factor H and other factor H-related proteins by acting as a molecular mimic of host glycosaminoglycans. It also describes the architecture of other CRASP proteins belonging to the OspE/F-related paralogous protein family and suggests that they have evolved to bind specific complement proteins, aiding survival of the bacterium in different hosts.

  10. [A family with creatine transporter deficiency diagnosed with urinary creatine/creatinine ratio and the family history: the third Japanese familial case].

    Science.gov (United States)

    Nozaki, Fumihito; Kumada, Tomohiro; Shibata, Minoru; Fujii, Tatsuya; Wada, Takahito; Osaka, Hitoshi

    2015-01-01

    Creatine transporter deficiency (CRTR-D) is an X-linked disorder characterized by hypotonia, developmental delay, and seizures. We report the third Japanese family with CRTR-D. The proband was an 8-year-old boy who presented with hypotonia, severe intellectual disability and two episodes of seizures associated with/without fever. Among 7 siblings (4 males, 3 females), the eldest brother had severe intellectual disability, epilepsy, and sudden death at 17 years of age, while 18-year-old third elder brother had severe intellectual disability, autism, and drug-resistant epilepsy. The proband's urinary creatine/creatinine ratio was increased. A reduced creatine peak on brain magnetic resonance spectroscopy and a known pathogenic mutation in the SLC6A8 gene (c.1661 C > T;p.Pro554Leu) confirmed the diagnosis of CRTR-D. The same mutation was found in the third elder brother. Their mother was a heterozygote. Symptoms of CRTR-D are non-specific. Urinary creatine/creatinine ratio should be measured in patients with hypotonia, developmental delay, seizure and autism whose family history indicates an X-linked inheritance.

  11. Diagnoses That Matter: My Great-Grandmother's Murder as One Deemed 'Unworthy of Living' and Its Impact on Our Family

    Directory of Open Access Journals (Sweden)

    Andreas Hechler

    2017-06-01

    Full Text Available This is an English translation of an article originally published in German on the T4 "euthanasia" program targeting disabled people during the Third Reich. The essay examines the contours of ableism in Germany that have allowed these killings to remain unreported and uncommemorated. The author focuses on the murder of his great-grandmother and its effects on four generations of his family. This essay provides a vital historical record as well as a model for reflecting upon and understanding the legacy of the Holocaust and the persistence of ableism. Translated into English by Elizabeth C. Hamilton and Leo R. Kalkbrenner. The original German essay was previously published in a series called Gegendiagnose. Beiträge zur radikalen Kritik an Psychologie und Psychiatrie. Psycho_Gesundheitspolitik im Kapitalismus. Vol. 1. Münster: edition-assemblage. August 2015.

  12. Persistent High IgG Phase I Antibody Levels against Coxiella burnetii among Veterinarians Compared to Patients Previously Diagnosed with Acute Q Fever after Three Years of Follow-Up

    Science.gov (United States)

    Wielders, Cornelia C. H.; Boerman, Anneroos W.; Schimmer, Barbara; van den Brom, René; Notermans, Daan W.; van der Hoek, Wim; Schneeberger, Peter M.

    2015-01-01

    Background Little is known about the development of chronic Q fever in occupational risk groups. The aim of this study was to perform long-term follow-up of Coxiella burnetii seropositive veterinarians and investigate the course of IgG phase I and phase II antibodies against C. burnetii antigens and to compare this course with that in patients previously diagnosed with acute Q fever. Methods Veterinarians with IgG phase I ≥1:256 (immunofluorescence assay) that participated in a previous seroprevalence study were asked to provide a second blood sample three years later. IgG antibody profiles were compared to a group of acute Q fever patients who had IgG phase I ≥1:256 twelve months after diagnosis. Results IgG phase I was detected in all veterinarians (n = 76) and in 85% of Q fever patients (n = 98) after three years (pveterinarians and 12% of patients (OR 3.95, 95% CI: 1.84–8.49). Conclusions IgG phase I persists among veterinarians presumably because of continuous exposure to C. burnetii during their work. Serological and clinical follow-up of occupationally exposed risk groups should be considered. PMID:25602602

  13. A previously unidentified deletion in G protein-coupled receptor 143 causing X-linked congenital nystagmus in a Chinese family

    Directory of Open Access Journals (Sweden)

    Jing Liu

    2016-01-01

    Full Text Available Background: Congenital nystagmus (CN is characterized by conjugated, spontaneous, and involuntary ocular oscillations. It is an inherited disease and the most common inheritance pattern is X-linked CN. In this study, our aim is to identify the disease-causing mutation in a large sixth-generation Chinese family with X-linked CN. Methods: It has been reported that mutations in four-point-one, ezrin, radixin, moesin domain-containing 7 gene (FRMD7 and G protein-coupled receptor 143 gene (GPR143 account for the majority patients of X-linked nystagmus. We collected 8 ml blood samples from members of a large sixth-generation pedigree with X-linked CN and 100 normal controls. FRMD7 and GPR143 were scanned by polymerase chain reaction (PCR-based DNA sequencing assays, and multiplex PCR assays were applied to detect deletions. Results: We identified a previously unreported deletion covering 7 exons in GPR143 in a Chinese family. The heterozygous deletion from exon 3 to exon 9 of GPR143 was detected in all affected males in the family, while it was not detected in other unaffected relatives or 100 normal controls. Conclusions: This is the first report of molecular characterization in GPR143 gene in the CN family. Our results expand the spectrum of GPR143 mutations causing CN and further confirm the role of GPR143 in the pathogenesis of CN.

  14. How a Stroke Is Diagnosed

    Science.gov (United States)

    ... News About Neurology Image Library Search The Internet Stroke Center Patients & Families About Stroke Stroke Diagnosis Stroke ... Diagnosis » How a Stroke is Diagnosed How a Stroke is Diagnosed How a Stroke is Diagnosed Lab ...

  15. Mis-reporting, previous health status and health status of family may seriously bias the association between food patterns and disease.

    Science.gov (United States)

    Hörnell, Agneta; Winkvist, Anna; Hallmans, Göran; Weinehall, Lars; Johansson, Ingegerd

    2010-10-30

    Food pattern analyses are popular tools in the study of associations between diet and health. However, there is a need for further evaluation of this methodology. The aim of the present cross-sectional study was to evaluate the relationship between food pattern groups (FPG) and existing health, and to identify factors influencing this relationship. The inhabitants of Västerbotten County in northern Sweden are invited to health check-ups when they turn 30, 40, 50, and 60 years of age. The present study includes data collected from almost 60,000 individuals between 1992 and 2005. Associations between FPG (established using K-means cluster analyses) and health were analyzed separately in men and women. The health status of the participants and their close family and reporting accuracy differed significantly between men and women and among FPG. Crude regression analyses, with the high fat FPG as reference, showed increased risks for several health outcomes for all other FPGs in both sexes. However, when limiting analysis to individuals without previous ill-health and with adequate energy intake reports, most of the risks instead showed a trend towards protective effects. Food pattern classifications reflect both eating habits and other own and family health related factors, a finding important to remember and to adjust for before singling out the diet as a primary cause for present and future health problems. Appropriate exclusions are suggested to avoid biases and attenuated associations in nutrition epidemiology.

  16. Mis-reporting, previous health status and health status of family may seriously bias the association between food patterns and disease

    Directory of Open Access Journals (Sweden)

    Weinehall Lars

    2010-10-01

    Full Text Available Abstract Background Food pattern analyses are popular tools in the study of associations between diet and health. However, there is a need for further evaluation of this methodology. The aim of the present cross-sectional study was to evaluate the relationship between food pattern groups (FPG and existing health, and to identify factors influencing this relationship. Methods The inhabitants of Västerbotten County in northern Sweden are invited to health check-ups when they turn 30, 40, 50, and 60 years of age. The present study includes data collected from almost 60,000 individuals between 1992 and 2005. Associations between FPG (established using K-means cluster analyses and health were analyzed separately in men and women. Results The health status of the participants and their close family and reporting accuracy differed significantly between men and women and among FPG. Crude regression analyses, with the high fat FPG as reference, showed increased risks for several health outcomes for all other FPGs in both sexes. However, when limiting analysis to individuals without previous ill-health and with adequate energy intake reports, most of the risks instead showed a trend towards protective effects. Conclusions Food pattern classifications reflect both eating habits and other own and family health related factors, a finding important to remember and to adjust for before singling out the diet as a primary cause for present and future health problems. Appropriate exclusions are suggested to avoid biases and attenuated associations in nutrition epidemiology.

  17. EML4-ALK融合基因阳性肺腺癌合并淋巴瘤1例并文献复习%A Case Report:an EML4-ALK Positive Lung Adenocarcinoma Diagnosed with Lymphoma Previously

    Institute of Scientific and Technical Information of China (English)

    刘丽; 衡伟

    2015-01-01

    近年来随着分子生物学研究的不断深入,靶向治疗成为当前肺癌治疗的趋势。目前肺癌个体化的最佳治疗效果日益受到重视,棘皮动物微管相关蛋白4-间变型淋巴瘤激酶(echinoderm microtubule associated protein like 4 anaplastic lymphoma kinase, EML4-ALK)融合基因作为新兴生物标记物是当前肺癌治疗领域研究热点。与此同时,随着抗肿瘤治疗水平的不断提高,生存期明显延长,发生多原发癌(multiple primary carcinomas, MPC)的机会增多。EML4-ALK融合基因阳性的肺腺癌合并淋巴瘤发生于同一患者文献报道罕见。本文报道1例ALK融合基因阳性的非小细胞肺癌(non-small cell lung cancer, NSCLC)合并淋巴瘤病例,同时对异时性肺癌合并淋巴瘤的文献进行复习。%In recent years, with the deepening of the research of molecular biology, targeted therapy has become one of the trend of lung cancer treatment. hTe individualized treatment of lung cancer is attached great importance at present. Echinoderm microtubule associated protein like 4 anaplastic lymphoma kinase (EML4-ALK) as a new biological marker is a hot topic in the ifeld of lung cancer treatment. Meanwhile, with the improvement of anticancer treatment and survival, the inci-dence of multiple primary carcinomas (MPC) has become increasingly. But the report that malignant lymphoma complicated with lung adenocarcinoma harboring EML4-ALK fusion gene in one individual is rare. Here, we report an EML4-ALK positive non-small cell lung cancer (NSCLC) in a patient previously diagnosed with T cell lymphoma and review literature on meta-chronous lung cancer complicating with lymphoma.

  18. Diagnosing MS

    Science.gov (United States)

    ... a Local Support Group Ask an MS Navigator Edward M. Dowd Personal Advocate Program Connect with Peers ... Symptoms & Diagnosis Diagnosing MS Possible MS Clinically Isolated Syndrome (CIS) Newly Diagnosed Diagnosing Tools Other Conditions to ...

  19. Mandibular lesion differential diagnoses in a patient with a previous history of locally advanced head and neck carcinoma; Diagnostics differentiels d'une lesion de la mandibule chez un patient aux antecedents de cancer ORL localement avance

    Energy Technology Data Exchange (ETDEWEB)

    Le Stanc, E.; Vilain, D.; Tainturier, C. [Hopital Foch, Service de Medecine Nucleaire, 92 - Suresnes (France); Baglin, A.C. [Hopital Foch, Service d' Anatomopathologie, 92 - Suresnes (France)

    2008-07-15

    Eighteen months after completion of a radio chemotherapy treatment for a T4 tonsil cancer, a patient presented with a piece of bone coming out through a submandibular fistula and increasing pain. A CT scan, a bone scintigraphy and an 18-fluorodeoxyglucose positron-emission tomography were performed. Both diagnoses of osteoradionecrosis and tumor recurrence were suspected and then confirmed after mandibulectomy. (authors)

  20. Something Old, Something New: Using Family History and Genetic Testing to Diagnose and Manage Athletes with Inherited Cardiovascular Disease.

    Science.gov (United States)

    Thomas, Matthew J; Battle, Robert W

    2015-07-01

    A primary objective of the preparticipation physical examination is to identify athletes at increased risk for sudden cardiac arrest (SCA). Review of an athlete's family history may identify those at risk for SCA. Genetic testing for inherited cardiovascular disease has emerged as a valuable addition to the repertoire of cardiologists facing the decision of clearing athletes with concerning clinical signs and/or family histories. Genetic testing may lead to various outcomes for an athlete including: reassurance, diagnosis in those with borderline clinical features, finding disease predisposition prior to the onset of clinical signs (ie, genotype-positive/phenotype-negative), or continued uncertainty. Copyright © 2015 Elsevier Inc. All rights reserved.

  1. How Is Hemophilia Diagnosed?

    Science.gov (United States)

    ... page from the NHLBI on Twitter. How Is Hemophilia Diagnosed? If you or your child appears to ... have bleeding problems. However, some people who have hemophilia have no recent family history of the disease. ...

  2. Can pediatric bipolar-I disorder be diagnosed in the context of posttraumatic stress disorder? A familial risk analysis.

    Science.gov (United States)

    Biederman, Joseph; Wozniak, Janet; Martelon, Mary Kate; Spencer, Thomas J; Woodworth, Yvonne; Joshi, Gagan; Spencer, Andrea; Uchida, Mai; Kotte, Amelia; Faraone, Stephen V

    2013-08-15

    Despite ongoing concerns that traumatized children with severe symptoms of emotional dysregulation may be inappropriately receiving a diagnosis of pediatric bipolar-I (BP-I) disorder, this issue has not been adequately examined in the literature. Because both pediatric BP-I disorder and posttraumatic stress disorder (PTSD) are familial disorders, if children with both BP-I and PTSD were to be truly affected with BP-I disorder, their relatives would be at high risk for BP-I disorder. To this end, we compared patterns of familial aggregation of BP-I disorder in BP-I children with and without PTSD with age and sex matched controls. Participants were 236 youths with BP-I disorder and 136 controls of both sexes along with their siblings. Participants completed a large battery of measures designed to assess psychiatric disorders, psychosocial, educational, and cognitive parameters. Familial risk analysis revealed that relatives of BP-I probands with and without PTSD had similar elevated rates of BP-I disorder that significantly differed from those of relatives of controls. Pediatric BP-I disorder is similarly highly familial in probands with and without PTSD indicating that their co-occurrence is not due to diagnostic error.

  3. Investigating the cost-effectiveness of videotelephone based support for newly diagnosed paediatric oncology patients and their families: design of a randomised controlled trial

    Directory of Open Access Journals (Sweden)

    Theodoros Deborah

    2007-03-01

    Full Text Available Abstract Background Providing ongoing family centred support is an integral part of childhood cancer care. For families living in regional and remote areas, opportunities to receive specialist support are limited by the availability of health care professionals and accessibility, which is often reduced due to distance, time, cost and transport. The primary aim of this work is to investigate the cost-effectiveness of videotelephony to support regional and remote families returning home for the first time with a child newly diagnosed with cancer Methods/design We will recruit 162 paediatric oncology patients and their families to a single centre randomised controlled trial. Patients from regional and remote areas, classified by Accessibility/Remoteness Index of Australia (ARIA+ greater than 0.2, will be randomised to a videotelephone support intervention or a usual support control group. Metropolitan families (ARIA+ ≤ 0.2 will be recruited as an additional usual support control group. Families allocated to the videotelephone support intervention will have access to usual support plus education, communication, counselling and monitoring with specialist multidisciplinary team members via a videotelephone service for a 12-week period following first discharge home. Families in the usual support control group will receive standard care i.e., specialist multidisciplinary team members provide support either face-to-face during inpatient stays, outpatient clinic visits or home visits, or via telephone for families who live far away from the hospital. The primary outcome measure is parental health related quality of life as measured using the Medical Outcome Survey (MOS Short Form SF-12 measured at baseline, 4 weeks, 8 weeks and 12 weeks. The secondary outcome measures are: parental informational and emotional support; parental perceived stress, parent reported patient quality of life and parent reported sibling quality of life, parental satisfaction

  4. Using highly sensitive C-reactive protein measurement to diagnose MODY in a family with suspected type 2 diabetes.

    Science.gov (United States)

    Besser, Rachel E J; Jones, Jackie; McDonald, Timothy J; Smith, Rebecca; Shepherd, Maggie H; Hattersley, Andrew T

    2012-07-11

    The authors report an adolescent who was found to have diabetes on routine blood testing. The initial diagnosis was type 2 diabetes because she was obese, did not have type 1 diabetes antibodies and both parents had diabetes. Highly sensitive C-reactive protein (hsCRP) was low in the proband and her father (≤0.1 mg/l) indicating that type 2 diabetes was unlikely, and that hepatocyte nuclear factor 1-α-maturity onset diabetes of the young (HNF1A-MODY) was the most likely diagnosis. Following a genetic diagnosis of HNF1A-MODY in the proband and her father, both patients were treated with gliclazide, with improvement in HbA1c. This case highlights the challenges of making a correct diagnosis of MODY in young onset diabetes. The authors report the first case where hsCRP, an easily available biomarker, has been used on an individual level to determine appropriate genetic testing of MODY in a family whose main differential diagnosis was familial type 2 diabetes.

  5. A case of familial Mediterranean fever who complained of periodic fever and abdominal pain diagnosed by MEFV gene analysis.

    Science.gov (United States)

    Ogita, Chie; Matsui, Kiyoshi; Kisida, Dai; Kakudou, Mariko; Yazaki, Masahide; Nakamura, Akinori; Azuma, Kouta; Tsuboi, Kazuyuki; Abe, Takeo; Yokoyama, Yuichi; Furukawa, Tetsuya; Maruoka, Momo; Tamura, Masao; Yoshikawa, Takahiro; Saito, Atsushi; Nishioka, Aki; Sekiguchi, Masahiro; Azuma, Naoto; Kitano, Masayasu; Tsunoda, Shinichiro; Hashimoto-Tamaoki, Tomoko; Sano, Hajime

    2016-01-01

      Familial Mediterranean fever (FMF) is a hereditary autoinflammatory disease caused by Mediterranean FeVergene (MEFV) mutations on Chromosome 16, and characterized by periodic fever of and serositis. FMF is the result of gain-of-function mutations in pyrin that lead to interleukin-1β activation. FMF can be classified as "typical" and "atypical" types based on clinical finding and genetic screening. Although MEFV genotyping has enabled FMF to be confirmed in some cases, the diagnosis remains predominantly clinical since genotyping has shown that the disease is characterized by variable manifestations in Japanese. In 1976, the first report performed on the case of Japanese FMF with periodic fever of and serositis. Since 2002, genetic analyses are performed on Japanese FMF patients by K. Shiozaki et al. and N. Tomiyama et al. In our case, she was a 25-year-old Japanese woman with at periodic fever and abdominal pain. MEFV gene analysis demonstrated a heterozygous mutation of variant M694I, leading to a diagnosis of FMF. After the increase dose (up to 3 mg/day) of colchicine, periodic fever and abdominal pain disappeared. It is the important candidate of FMF for differential diagnosis with unexplained periodic fever and serositis, such as our case.

  6. Genetically diagnosed Birt-Hogg-Dubé syndrome and familial cerebral cavernous malformations in the same individual: a case report.

    Science.gov (United States)

    Whitworth, James; Stausbøl-Grøn, Brian; Skytte, Anne-Bine

    2017-01-01

    When faced with an unusual clinical feature in a patient with a Mendelian disorder, the clinician may entertain the possibilities of either the feature representing a novel manifestation of that disorder or the co-existence of a different inherited condition. Here we describe an individual with a submandibular oncocytoma, pulmonary bullae and renal cysts as well as multiple cerebral cavernous malformations and haemangiomas. Genetic investigations revealed constitutional mutations in FLCN, associated with Birt-Hogg-Dubé syndrome (BHD) and CCM2, associated with familial cerebral cavernous malformation. Intracranial vascular pathologies (but not cerebral cavernous malformation) have recently been described in a number of individuals with BHD (Kapoor et al. in Fam Cancer 14:595-597, 10.1007/s10689-015-9807-y , 2015) but it is not yet clear whether they represent a genuine part of that conditions' phenotypic spectrum. We suggest that in such instances of potentially novel clinical features, more extensive genetic testing to consider co-existing conditions should be considered where available. The increased use of next generation sequencing applications in diagnostic settings is likely to lead more cases such as this being revealed.

  7. Global history of the ancient monocot family Araceae inferred with models accounting for past continental positions and previous ranges based on fossils.

    Science.gov (United States)

    Nauheimer, Lars; Metzler, Dirk; Renner, Susanne S

    2012-09-01

    The family Araceae (3790 species, 117 genera) has one of the oldest fossil records among angiosperms. Ecologically, members of this family range from free-floating aquatics (Pistia and Lemna) to tropical epiphytes. Here, we infer some of the macroevolutionary processes that have led to the worldwide range of this family and test how the inclusion of fossil (formerly occupied) geographical ranges affects biogeographical reconstructions. Using a complete genus-level phylogeny from plastid sequences and outgroups representing the 13 other Alismatales families, we estimate divergence times by applying different clock models and reconstruct range shifts under different models of past continental connectivity, with or without the incorporation of fossil locations. Araceae began to diversify in the Early Cretaceous (when the breakup of Pangea was in its final stages), and all eight subfamilies existed before the K/T boundary. Early lineages persist in Laurasia, with several relatively recent entries into Africa, South America, South-East Asia and Australia. Water-associated habitats appear to be ancestral in the family, and DNA substitution rates are especially high in free-floating Araceae. Past distributions inferred when fossils are included differ in nontrivial ways from those without fossils. Our complete genus-level time-scale for the Araceae may prove to be useful for ecological and physiological studies.

  8. Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood

    DEFF Research Database (Denmark)

    Gregersen, N; Winter, V; Jensen, P K;

    1995-01-01

    Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a potentially fatal inherited disease with a carrier frequency of approximately 1:100 in most Caucasian populations. The disease is implicated in sudden unexpected death in childhood. A prevalent disease-causing point mutation (A985G......--involved in the expression of the disease. Thus, families who have experienced the death of a child from MCAD deficiency might have an increased risk of a seriously affected subsequent child. In such a family we have therefore performed a prenatal diagnosis on a chorionic villus sample by a highly specific and sensitive...... polymerase chain reaction (PCR) assay for the G985 mutation. The analysis was positive and resulted in abortion. We verified the diagnosis by direct analysis on blood spots and other tissue material from the aborted fetus and from family members....

  9. Family Life and the Impact of Previous and Present Residential and Day Care Support for Children with Major Cognitive and Behavioural Challenges: A Dilemma for Services and Policy

    Science.gov (United States)

    Brown, R. I.; Geider, S.; Primrose, A.; Jokinen, N. S.

    2011-01-01

    Introduction: Since the development of inclusion and integration, parents have increasingly become the major, and sometimes the only, carers of their children with disabilities. Many families speak of stress and frustration with service and community support, and some have turned to residential and specialised day care services to overcome…

  10. Prenatal diagnosis of medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in a family with a previous fatal case of sudden unexpected death in childhood

    DEFF Research Database (Denmark)

    Gregersen, N; Winter, V; Jensen, P K;

    1995-01-01

    Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a potentially fatal inherited disease with a carrier frequency of approximately 1:100 in most Caucasian populations. The disease is implicated in sudden unexpected death in childhood. A prevalent disease-causing point mutation (A985G......) in the MCAD gene has been characterized, thus rendering diagnosis easy in the majority of cases. Since the clinical spectrum of MCAD deficiency ranges from death in the first days of life to an asymptomatic life, there are probably other genetic factors--in addition to MCAD mutations......--involved in the expression of the disease. Thus, families who have experienced the death of a child from MCAD deficiency might have an increased risk of a seriously affected subsequent child. In such a family we have therefore performed a prenatal diagnosis on a chorionic villus sample by a highly specific and sensitive...

  11. Maturity-onset diabetes of the young type 5 in a family with diabetes and mild kidney disease diagnosed by whole exome sequencing.

    Science.gov (United States)

    Wentworth, J M; Lukic, V; Bahlo, M; Finlay, M; Nguyen, C; Morahan, G; Harrison, L C

    2014-11-01

    Exome sequencing is being increasingly used to identify disease-associated gene mutations. We used whole exome sequencing to determine the genetic basis of a syndrome of diabetes and renal disease affecting a mother and her son. We identified a mutation in the hepatocyte nuclear factor 1-b (HNF1B) gene that encoded a methionine to valine amino acid change (M160V) in the HNF1B protein. This leads us to the previously unappreciated diagnosis of maturity-onset diabetes of the young type 5 and provided a basis for genetic counselling of other family members. © 2014 The Authors; Internal Medicine Journal © 2014 Royal Australasian College of Physicians.

  12. Frontotemporal dementia linked to chromosome 3 (FTD-3)--current concepts and the detection of a previously unknown branch of the Danish FTD-3 family

    DEFF Research Database (Denmark)

    Lindquist, S.G.; Braedgaard, H.; Svenstrup, K.

    2008-01-01

    entities of FTD have involved identification of several new causative genes. METHODS AND RESULTS: We report the finding of a truncating mutation in the CHMP2B gene (c.532-1G>C) in a patient with early onset dementia. The patient was previously not known to be related to the single Danish pedigree known...

  13. Newly Diagnosed

    Science.gov (United States)

    ... Sites Podcasts QR Codes RSS Feeds Social Bookmarking Social Network Sites Text Messaging Twitter Video Games Video Sharing ... in care is similar to that of HIV-negative individuals. Additional Resources AIDSinfo – Just Diagnosed: Next ...

  14. Relationship between genetic mutation variations and acute-phase reactants in the attack-free period of children diagnosed with familial Mediterranean fever

    Energy Technology Data Exchange (ETDEWEB)

    Kosan, C. [Department of Pediatric Nephrology, Faculty of Medicine, Ataturk University, Erzurum (Turkey); Cayir, A.; Turan, M.I. [Department of Pediatrics, Faculty of Medicine, Ataturk University, Erzurum (Turkey)

    2013-09-18

    Familial Mediterranean fever (FMF) is a periodic autoinflammatory disease characterized by chronic inflammation. This study investigated the relationship between acute-phase reactants and gene mutations in attack-free periods of childhood FMF. Patients diagnosed with FMF were divided into four groups based on genetic features: no mutation, homozygous, heterozygous, and compound heterozygous. These groups were monitored for 2 years, and blood samples were collected every 6 months during attack-free periods. Erythrocyte sedimentation rate, C-reactive protein, fibrinogen, and white blood cell count were measured. A disease severity score was determined for each patient. Mean values for erythrocyte sedimentation rate and fibrinogen were significantly different in the homozygous group. White blood cell count and C-reactive protein were similar between the groups. Disease severity score was higher in patients with the M694V mutation than in individuals without the mutation, as well as in those with other mutation groups. Periodic follow-up of patients with FMF MEFV mutations in subjects with acute-phase reactants may be useful in the prevention of morbidity.

  15. Relationship between genetic mutation variations and acute-phase reactants in the attack-free period of children diagnosed with familial Mediterranean fever

    Science.gov (United States)

    Kosan, C.; Cayir, A.; Turan, M.I.

    2013-01-01

    Familial Mediterranean fever (FMF) is a periodic autoinflammatory disease characterized by chronic inflammation. This study investigated the relationship between acute-phase reactants and gene mutations in attack-free periods of childhood FMF. Patients diagnosed with FMF were divided into four groups based on genetic features: no mutation, homozygous, heterozygous, and compound heterozygous. These groups were monitored for 2 years, and blood samples were collected every 6 months during attack-free periods. Erythrocyte sedimentation rate, C-reactive protein, fibrinogen, and white blood cell count were measured. A disease severity score was determined for each patient. Mean values for erythrocyte sedimentation rate and fibrinogen were significantly different in the homozygous group. White blood cell count and C-reactive protein were similar between the groups. Disease severity score was higher in patients with the M694V mutation than in individuals without the mutation, as well as in those with other mutation groups. Periodic follow-up of patients with FMF MEFV mutations in subjects with acute-phase reactants may be useful in the prevention of morbidity. PMID:24141617

  16. Relationship between genetic mutation variations and acute-phase reactants in the attack-free period of children diagnosed with familial Mediterranean fever

    Directory of Open Access Journals (Sweden)

    C. Kosan

    2013-09-01

    Full Text Available Familial Mediterranean fever (FMF is a periodic autoinflammatory disease characterized by chronic inflammation. This study investigated the relationship between acute-phase reactants and gene mutations in attack-free periods of childhood FMF. Patients diagnosed with FMF were divided into four groups based on genetic features: no mutation, homozygous, heterozygous, and compound heterozygous. These groups were monitored for 2 years, and blood samples were collected every 6 months during attack-free periods. Erythrocyte sedimentation rate, C-reactive protein, fibrinogen, and white blood cell count were measured. A disease severity score was determined for each patient. Mean values for erythrocyte sedimentation rate and fibrinogen were significantly different in the homozygous group. White blood cell count and C-reactive protein were similar between the groups. Disease severity score was higher in patients with the M694V mutation than in individuals without the mutation, as well as in those with other mutation groups. Periodic follow-up of patients with FMF MEFV mutations in subjects with acute-phase reactants may be useful in the prevention of morbidity.

  17. Pheochromocytoma diagnosed pathologically with previous negative serum markers.

    Science.gov (United States)

    Heavner, Matthew G; Krane, Louis S; Winters, Shira M; Mirzazadeh, Majid

    2015-10-01

    Patients presenting with adrenal masses require workup with catecholamine or metabolite measurements to rule out pheochromocytoma. There is a select portion of patients with marker negative pheochromocytoma. The aim of this study is to compare patient characteristics and presentations between marker positive and marker negative tumors. We performed an IRB-approved retrospective chart review of 88 cases of pheochromocytoma excised at our institution from 1995 to 2013. We considered any abnormal elevation in diagnostic test to be marker-positive. Seventy-eight cases had laboratory results available. Among these, seven had no elevations in laboratory testing. There was no difference in age or tumor size, but marker-negative patients had higher BMI than marker-positive patients. Marker negative patients were more likely to present with vertigo/dizziness (P = 0.003). Neither was more likely to have a genetic syndrome associated with risk of pheochromocytoma. Marker-negative pheochromocytoma is uncommon, representing 9% of cases in our series. Of patients with adrenal masses or presentation suggesting catecholamine excess with normal labs, those with vertigo/dizziness may warrant a metaiodobenzylguanidine scan or repeat testing to avoid missing pheochromocytoma. Clinicians may need a high degree of suspicion for pheochromocytoma in patients with negative testing and elevated BMI. © 2015 Wiley Periodicals, Inc.

  18. "Her illness is a project we can work on together": developing a collaborative family-centered intervention model for newly diagnosed multiple sclerosis.

    Science.gov (United States)

    Rintell, David; Melito, Richard

    2013-01-01

    This article presents a model for intervening with families that are addressing a new diagnosis of multiple sclerosis (MS) in one member. The model is collaborative, integrative, and family-centered. It involves both working with the family collaboratively and providing strategies to promote greater collaboration within the family. The model integrates elements of crisis intervention theory, psycho-education, and family-centered approaches. The model was developed with families addressing MS, and was piloted with three families. The intervention was found to improve family members' ability to collaborate with each other. Such increased collaboration may enhance the family's ability to manage long-term illness more effectively, help the family address the impact of the illness on all family members, and generally improve the family's quality of life.

  19. How Is Aplastic Anemia Diagnosed?

    Science.gov (United States)

    ... from the NHLBI on Twitter. How Is Aplastic Anemia Diagnosed? Your doctor will diagnose aplastic anemia based on your medical and family histories, a ... your primary care doctor thinks you have aplastic anemia, he or she may refer you to a ...

  20. FOXL2 gene mutations and blepharophimosis-ptosis-epicanthus inversus syndrome (BPES): a novel mutation detected in a Chinese family and a statistic model for summarizing previous reported records.

    Science.gov (United States)

    Xu, Yan; Lei, Huo; Dong, Hong; Zhang, Liping; Qin, Qionglian; Gao, Jianmei; Zou, Yunlian; Yan, Xinmin

    2009-09-01

    Previous studies found that the forkhead transcription factor 2 (FOXL2) gene mutations are responsible for both types of blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) but have not established any systematic statistic model for the complex and even contradictory results about genotype-phenotype correlations between them. This study is aimed to find possible mutations of FOXL2 gene in a Chinese family with type II BPES by using DNA sequencing and to further clarify genotype-phenotype correlations between FOXL2 mutations and BPES by using a systematic statistical method, namely Multifactor Dimensionality Reduction (MDR). A novel mutation (g.933_965dup) which could result in an expansion of the polyalanine (polyAla) tract was detected in all patients of this family. MDR analysis for intragenic mutations of FOXL2 gene reported in previous BPES studies indicated that the mutations which led to much stronger disturbance of amino acid sequence were responsible for more type I BPES, while other kinds of mutation were responsible for more type II BPES. In conclusion, the present study found a novel FOXL2 gene mutation in a Chinese BPES family and a new general genotype-phenotype correlation tendency between FOXL2 intragenic mutations and BPES, both of which expanded the knowledge about FOXL2 gene and BPES.

  1. The Mental Health Recovery Movement and Family Therapy, Part I: Consumer-Led Reform of Services to Persons Diagnosed with Severe Mental Illness

    Science.gov (United States)

    Gehart, Diane R.

    2012-01-01

    In 2004, the U.S. Department of Health and Human Services issued a consensus statement on mental health recovery based on the New Freedom Commission's recommendation that public mental health organizations adopt a "recovery" approach to severe and persistent mental illness, including services to those dually diagnosed with mental health and…

  2. The Mental Health Recovery Movement and Family Therapy, Part I: Consumer-Led Reform of Services to Persons Diagnosed with Severe Mental Illness

    Science.gov (United States)

    Gehart, Diane R.

    2012-01-01

    In 2004, the U.S. Department of Health and Human Services issued a consensus statement on mental health recovery based on the New Freedom Commission's recommendation that public mental health organizations adopt a "recovery" approach to severe and persistent mental illness, including services to those dually diagnosed with mental health…

  3. Parent-infant interactions in families with women diagnosed with postnatal depression: a longitudinal study on the effects of a psychodynamic treatment

    Directory of Open Access Journals (Sweden)

    Renata eTambelli

    2015-08-01

    Full Text Available Background: Several studies have shown a connection between mothers with post-natal depression (PND and emotional-behavioral problems in their children. Mothers' psychopathology may impair interactional patterns with children and these outcomes can be influenced by father's psychopathological symptoms. The primary aim of the study was to assess over time parent-infant interaction in families where mothers have experienced postnatal depression and have received psychological treatment during the child's first year of life considering the severity of parents' psychopathological symptoms and children's temperament. Methods: Three groups of families were involved: families with mothers with PND wherein both parents followed a psychological treatment (TxMF; families with mothers affected by PND wherein only the mother followed the treatment (TxM and control families wherein the mothers did not have a psychopathological diagnosis and did not receive any treatment (Con. The families were assessed at two time points through Symptom Check-List-90-Revised (SCL-90-R, Questionari Italiani Temperamento (QUIT and the video-recorded procedure observing mealtime Scala di Valutazione Interazioni Alimentari (SVIA. Results: Parents in the TxMF group had significantly lower SVIA scores (i.e . less maladaptive at T2. TxMF group scored lower at T2 at SCL-90-R, whereas TxM showed no significant differences between T1 and T2. Involvement of fathers in the treatment was important to improve the psychopathological symptoms of both parents and the quality of interactions with their children.

  4. Parent-infant interactions in families with women diagnosed with postnatal depression: a longitudinal study on the effects of a psychodynamic treatment.

    Science.gov (United States)

    Tambelli, Renata; Cerniglia, Luca; Cimino, Silvia; Ballarotto, Giulia

    2015-01-01

    Several studies have shown a connection between mothers with postnatal depression (PND) and emotional-behavioral problems in their children. Mothers' psychopathology may impair interactional patterns with children and these outcomes can be influenced by father's psychopathological symptoms. The primary aim of the study was to assess over time parent-infant interaction in families where mothers have experienced PND and have received psychological treatment during the child's first year of life considering the severity of parents' psychopathological symptoms and children's temperament. Three groups of families were involved: families with mothers with PND wherein both parents followed a psychological treatment (TxMF); families with mothers affected by PND wherein only the mother followed the treatment (TxM) and control families wherein the mothers did not have a psychopathological diagnosis and did not receive any treatment (Con). The families were assessed at two time points through Symptom Check-List-90-Revised (SCL-90-R), Questionari Italiani Temperamento (QUIT) and the video-recorded procedure observing mealtime Scala di Valutazione Interazioni Alimentari (SVIA). Parents in the TxMF group had significantly lower SVIA scores (i.e., less maladaptive) at T2. TxMF group scored lower at T2 at SCL-90-R, whereas TxM showed no significant differences between T1 and T2. Involvement of fathers in the treatment was important to improve the psychopathological symptoms of both parents and the quality of interactions with their children.

  5. New and previously known species of Oenonidae (Polychaeta: Annelida) from Lizard Island, Great Barrier Reef, Australia.

    Science.gov (United States)

    Zanol, Joana; Ruta, Christine

    2015-09-18

    The family Oenonidae consists of Eunicida species with prionognath jaws. Its Australian fauna had been reported to comprise six species belonging to Arabella, Drilonereis, and Oenone. This study provides descriptions for four new species, redescriptions for three species (two previously recorded and a new record, Drilonereis cf. logani) and diagnoses for the genera recorded from Australia. Currently, eleven species of oenonids, distributed in three genera, are known for the Australian coast. On Lizard Island, this family shows low abundance (19 specimens collected) and high richness (seven species). Our results suggest that despite the increasing accumulation of information, the biodiversity of the family is still poorly estimated.

  6. Solving a 50 year mystery of a missing OPA1 mutation: more insights from the first family diagnosed with autosomal dominant optic atrophy

    Directory of Open Access Journals (Sweden)

    Zrenner Eberhart

    2010-06-01

    Full Text Available Abstract Background Up to the 1950s, there was an ongoing debate about the diversity of hereditary optic neuropathies, in particular as to whether all inherited optic atrophies can be ascribed to Leber's hereditary optic neuropathy (LHON or represent different disease entities. In 1954 W. Jaeger published a detailed clinical and genealogical investigation of a large family with explicit autosomal dominant segregation of optic atrophy thus proving the existence of a discrete disease different from LHON, which is nowadays known as autosomal dominant optic atrophy (ADOA. Since the year 2000 ADOA is associated with genomic mutations in the OPA1 gene, which codes for a protein that is imported into mitochondria where it is required for mitochondrial fusion. Interestingly enough, the underlying mutation in this family has not been identified since then. Results We have reinvestigated this family with the aim to identify the mutation and to further clarify the underlying pathomechanism. Patients showed a classical non-syndromic ADOA. The long term deterioration in vision in the two teenagers examined 50 years later is of particular note 5/20 to 6/120. Multiplex ligation probe amplification revealed a duplication of the OPA1 exons 7-9 which was confirmed by long distance PCR and cDNA analysis, resulting in an in-frame duplication of 102 amino acids. Segregation was verified in 53 available members of the updated pedigree and a penetrance of 88% was calculated. Fibroblast cultures from skin biopsies were established to assess the mitochondrial network integrity and to qualitatively and quantitatively study the consequences of the mutation on transcript and protein level. Fibroblast cultures demonstrated a fragmented mitochondrial network. Processing of the OPA1 protein was altered. There was no correlation of the OPA1 transcript levels and the OPA1 protein levels in the fibroblasts. Intriguingly an overall decrease of mitochondrial proteins was observed

  7. How Is Fanconi Anemia Diagnosed?

    Science.gov (United States)

    ... from the NHLBI on Twitter. How Is Fanconi Anemia Diagnosed? People who have Fanconi anemia (FA) are born with the disorder. They may ... questions about: Any personal or family history of anemia Any surgeries you’ve had related to the ...

  8. Diagnosing Asthma in Very Young Children

    Science.gov (United States)

    ... Listen Español Text Size Email Print Share Diagnosing Asthma in Babies & Toddlers Page Content Article Body One ... family with recurrent bronchitis or sinus problems. When Asthma is Not the Cause Your pediatrician will listen ...

  9. Sickness absence, social relations, and self-esteem: a qualitative study of the importance of relationships with family, workmates, and friends among persons initially long-term sickness absent due to back diagnoses.

    Science.gov (United States)

    Svensson, Tommy; Müssener, Ulrika; Alexanderson, Kristina

    2010-01-01

    The aim of the present study was to explore and analyze accounts of social interactions and relationships with family, workmates, and friends supplied by persons with experience of sickness absence due to back, neck, or shoulder diagnoses. The focus was on experiences that seemed to involve positive and negative self-evaluative aspects, and therefore may be important to the self-conception and self-esteem of the absentee, and possibly to return to work. The interviewees were women and men between 25 to 34 years of age who had been sickness certified due to back, neck, or shoulder diagnosis. A descriptive and explorative method was used to analyze data from five focus-group interviews. The importance of being supported and encouraged by family members, and the importance of feeling needed at work as well as being part of a social context were aspects stressed by the respondents. Our results indicate that these interactions and relations are important to the absentees' self-esteem, and that this should be taken into account when discussing rehabilitation efforts.

  10. Nursing diagnoses in overweight adolescents

    Directory of Open Access Journals (Sweden)

    Raphaela Santos do Nascimento Rodrigues

    2013-05-01

    Full Text Available This study aimed to identify nursing diagnoses in overweight adolescents from public schools, according to the International Classification for Nursing Practice. A population-based cross-sectional study that investigated the socio-demographic, behavioural and psychological characteristics of adolescents aged from 10 to 14 years. 11 nursing diagnoses were identified: "Risk of overweight", "Risk of impaired adolescent development", "Risk of insecurity in parental role performance", "Risk of the family impaired ability to manage diet regime", "Risk of impaired ability to manage diet regime", "Risk of lack of knowledge of dietary regime", "Risk of excess food intake", "Risk of negative self-image", "Risk of low self-esteem", "Risk of impaired social well-being" and "Impaired exercise pattern". These diagnoses reflect the multifactorial nature of obesity, highlighting the need for interdisciplinary and intersectoral articulation of nursing interventions for prevention and control of overweight.

  11. Identification of previously unrecognized FAP in children with Gardner fibroma.

    Science.gov (United States)

    Vieira, Joana; Pinto, Carla; Afonso, Mariana; do Bom Sucesso, Maria; Lopes, Paula; Pinheiro, Manuela; Veiga, Isabel; Henrique, Rui; Teixeira, Manuel R

    2015-05-01

    Fibromatous soft tissue lesions, namely desmoid-type fibromatosis and Gardner fibroma, may occur sporadically or as a result of inherited predisposition (as part of familial adenomatous polyposis, FAP). Whereas desmoid-type fibromatosis often present β-catenin overexpression (by activating CTNNB1 somatic variants or APC biallelic inactivation), the pathogenetic mechanisms in Gardner fibroma are unknown. We characterized in detail Gardner fibromas diagnosed in two infants to evaluate their role as sentinel lesions of previously unrecognized FAP. In the first infant we found a 5q deletion including APC in the tumor and the novel APC variant c.4687dup in constitutional DNA. In the second infant we found the c.5826_5829del and c.1678A>T APC variants in constitutional and tumor DNA, respectively. None of the constitutional APC variants occurred de novo and both tumors showed nuclear staining for β-catenin and no CTNNB1 variants. We present the first comprehensive characterization of the pathogenetic mechanisms of Gardner fibroma, which may be a sentinel lesion of previously unrecognized FAP families.

  12. How Is COPD Diagnosed?

    Science.gov (United States)

    ... page from the NHLBI on Twitter. How Is COPD Diagnosed? Your doctor will diagnose COPD based on ... Rate This Content: NEXT >> Featured Video What is COPD? 05/22/2014 Describes how COPD, or chronic ...

  13. How Is Atherosclerosis Diagnosed?

    Science.gov (United States)

    ... page from the NHLBI on Twitter. How Is Atherosclerosis Diagnosed? Your doctor will diagnose atherosclerosis based on ... Rate This Content: NEXT >> Featured Video What is atherosclerosis? 05/22/2014 Describes how the build-up ...

  14. How Are Thalassemias Diagnosed?

    Science.gov (United States)

    ... page from the NHLBI on Twitter. How Are Thalassemias Diagnosed? Doctors diagnose thalassemias using blood tests , including a complete blood count ( ... in a sample of blood. People who have thalassemias have fewer healthy red blood cells and less ...

  15. How Is Sarcoidosis Diagnosed?

    Science.gov (United States)

    ... page from the NHLBI on Twitter. How Is Sarcoidosis Diagnosed? Your doctor will diagnose sarcoidosis based on ... Content: NEXT >> Featured Video Living With and Managing Sarcoidosis 05/18/2011 This video—presented by the ...

  16. Diagnosing Tic Disorders

    Science.gov (United States)

    ... Other Websites Information For... Media Policy Makers Diagnosing Tic Disorders Language: English Español (Spanish) Recommend on Facebook ... or postviral encephalitis). Persistent (Chronic) Motor or Vocal Tic Disorder For a person to be diagnosed with ...

  17. How Is Vasculitis Diagnosed?

    Science.gov (United States)

    ... page from the NHLBI on Twitter. How Is Vasculitis Diagnosed? Your doctor will diagnose vasculitis based on your signs and symptoms, your medical ... results. Specialists Involved Depending on the type of vasculitis you have and the organs affected, your doctor ...

  18. Characterization of some previously unclassified "Pasteurella" spp. obtained from the oral cavity of dogs and cats and description of a new species tentatively classified with the family Pasteurellaceae Pohl 1981 and provisionally called taxon 16.

    Science.gov (United States)

    Bisgaard, M; Mutters, R

    1986-06-01

    The taxonomic relationship of 23 unclassified canine and feline strains of Pasteurellaceae and five strains received as Pasteurella spp. or Haemophilus influenzae-murium was investigated by phenotypic and genetic characterization. Eleven strains were classified with four recently described species of genus Pasteurella sensu stricto. Fourteen canine and feline strains formed a homogeneous group, tentatively designated taxon 16. Both phenotypic characters and mol% G + C in DNA and genome size indicate classification of taxon 16 with genus Pasteurella. DNA/DNA hybridizations, however, failed to locate taxon 16 on genus level with accepted or proposed species of the family Pasteurellaceae Pohl 1981. Two additional species obtained from rats and mice remained unclassified, in addition to a human isolate obtained from a dog-bite. The necessity of detailed phenotypic characterization within the family Pasteurellaceae Pohl 1981 needs to be stressed.

  19. Differential diagnoses to MS

    DEFF Research Database (Denmark)

    Horwitz, Henrik; Friis, Tina; Modvig, Signe;

    2014-01-01

    of 643 patients were included in the study. Apart from ON, the most frequent diagnoses were tumors (n = 15), ischemic or hypertensive neuropathies (n = 13), and retinal or choroid disorders (n = 9). Six patients were diagnosed with neuromyelitis optica. Rarer causes of visual loss were infections (n = 5...

  20. How Is Raynaud's Diagnosed?

    Science.gov (United States)

    ... diagnose primary Raynaud's (Raynaud's disease) or secondary Raynaud's (Raynaud's phenomenon) based on your medical history, a physical exam, and test results. Specialists Involved Primary care doctors and internists often diagnose and treat Raynaud's. If you have the disorder, you also may ...

  1. Diagnosing Sleep Disorders

    Science.gov (United States)

    ... of this page please turn JavaScript on. Feature: Sleep Disorders Diagnosing Sleep Disorders Past Issues / Summer 2015 Table of Contents Depending ... several possible tests when trying to diagnose a sleep disorder: Sleep history and sleep log If you believe ...

  2. Prevalencia de diagnósticos de enfermería en escolares desplazados v��ctimas de la violencia social e intrafamiliar Prevalence of nursing diagnoses in school displaced victims of social and intra-family violence

    Directory of Open Access Journals (Sweden)

    Elvinia Pinilla Gómez

    2009-08-01

    that it has it has on children's mental health. Objective: To determine the prevalence of nursing diagnosis in school children displaced victims of social and intra-family violence. Materials and methods: prevalence study. The sample comprised 56 children of school age in the primary grades 1 to 5 selected for convenience. We used a form of valuation validated. We calculated the prevalence of nursing diagnoses, with a confidence interval of 95%. Results: The most prevalent diagnosis were Willingness to improve self with a 100% provision to improve communication with 85.7%, Fear with 75% and Risk of post-traumatic syndrome with 60.7%. The lowest prevalence was: ineffective coping had a prevalence of 37.5%, risk of violence directed at others with 16.1%. Discussion: It was found that children presenting post-traumatic syndrome diagnoses also had fear diagnosis. It requires more attention by health staff is handling the rape trauma syndrome which appears with a 7.1%, corresponding to 2 boys and 2 girls with this diagnosis. Conclusion: School children displaced victims of the social and intra-family violence presents a considerable number of psychological diagnoses that require careful assessment and management to enable them to cope with the trauma experienced, that is not done in an appropriate manner could be considered a population at high risk for disorder mental. Salud UIS 2009; 41: 149-156

  3. "Battered Women" and Previous Victimization: Is the Question Relevant?

    Science.gov (United States)

    Gudim, Laurie, Comp.; And Others

    This report discusses battered women and the role of their previous victimization. After a literature review on family violence in general, these topics are discussed: (1) family violence and the patriarchy; (2) the historical background of family violence; (3) intergenerational cycle of violence; and (4) psychological literature's four ways…

  4. "Battered Women" and Previous Victimization: Is the Question Relevant?

    Science.gov (United States)

    Gudim, Laurie, Comp.; And Others

    This report discusses battered women and the role of their previous victimization. After a literature review on family violence in general, these topics are discussed: (1) family violence and the patriarchy; (2) the historical background of family violence; (3) intergenerational cycle of violence; and (4) psychological literature's four ways…

  5. Familial dermographism.

    Science.gov (United States)

    Jedele, K B; Michels, V V

    1991-05-01

    Urticaria in response to various physical stimuli has been reported in sporadic and familial patterns. The most common of these physical urticarias, dermographism, is a localized urticarial response to stroking or scratching of the skin and has not been reported previously to be familial. A four-generation family with dermographism, probably inherited as an autosomal dominant trait, is presented along with a discussion of sporadic dermographism and other types of familial physical urticarias.

  6. Health care experiences among women diagnosed with gestational breast cancer.

    Science.gov (United States)

    Hammarberg, K; Sullivan, E; Javid, N; Duncombe, G; Halliday, L; Boyle, F; Saunders, C; Ives, A; Dickinson, J E; Fisher, J

    2017-03-24

    Gestational breast cancer (GBC) presents many challenges for women and the clinicians who care for them. The aim of this study was to explore the health care experiences of women diagnosed with GBC to inform and improve clinical care of women in this predicament. Semi-structured interviews were conducted with 17 women who had been diagnosed with GBC in the previous 5 years. The overarching themes for perceived quality of care were "communication" and "comprehensive care." "Communication" had two sub themes: "interdisciplinary communication" (the way health professionals from different disciplines communicated with each other about the management of the woman's care) and "patient communication" (how they communicated this to the woman). The "comprehensive care" theme incorporated three sub themes: "the spirit" (psychological care); "the mind" (information provision); and "the body" (management of treatment side effects). Women's own accounts of positive and negative experiences of GBC care provide unique and specific insights which improve understanding of their concerns and needs. The findings can inform advances in quality and efficacy of clinical care; offer guidance for obstetricians, oncologists and allied health professionals about the needs of women diagnosed with GBC and how care can be optimised; and inform the development of resources to assist women and their families.

  7. How Is Testicular Cancer Diagnosed?

    Science.gov (United States)

    ... Cancer Early Detection, Diagnosis, and Staging How Is Testicular Cancer Diagnosed? Testicular cancer is usually found as a ... the tumor might have returned. Surgery to diagnose testicular cancer Most types of cancer are diagnosed by removing ...

  8. Diagnosing ADHD in Adolescence

    Science.gov (United States)

    Sibley, Margaret H.; Pelham, William E., Jr.; Molina, Brooke S. G.; Gnagy, Elizabeth M.; Waschbusch, Daniel A.; Garefino, Allison C.; Kuriyan, Aparajita B.; Babinski, Dara E.; Karch, Kathryn M.

    2012-01-01

    Objective: This study examines adolescent-specific practical problems associated with current practice parameters for diagnosing attention-deficit/hyperactivity disorder (ADHD) to inform recommendations for the diagnosis of ADHD in adolescents. Specifically, issues surrounding the use of self- versus informant ratings, diagnostic threshold, and…

  9. Being publicly diagnosed

    DEFF Research Database (Denmark)

    Konradsen, Hanne; Lillebaek, Troels; Wilcke, Torgny;

    2014-01-01

    . METHOD: A grounded theory design with field studies and qualitative interviews, following the recommendations from Glaser and Strauss. RESULT: A process of being publicly diagnosed was identified, which developed during the patient's trajectory from being on the way to becoming a patient, becoming...

  10. Diagnosing plant problems

    Science.gov (United States)

    Cheryl A. Smith

    2008-01-01

    Diagnosing Christmas tree problems can be a challenge, requiring a basic knowledge of plant culture and physiology, the effect of environmental influences on plant health, and the ability to identify the possible causes of plant problems. Developing a solution or remedy to the problem depends on a proper diagnosis, a process that requires recognition of a problem and...

  11. No Previous Public Services Required

    Science.gov (United States)

    Taylor, Kelley R.

    2009-01-01

    In 2007, the Supreme Court heard a case that involved the question of whether a school district could be required to reimburse parents who unilaterally placed their child in private school when the child had not previously received special education and related services in a public institution ("Board of Education v. Tom F."). The…

  12. Liability for Diagnosing Malingering.

    Science.gov (United States)

    Weiss, Kenneth J; Van Dell, Landon

    2017-09-01

    Malingering is a medical diagnosis, but not a psychiatric disorder. The label imputes that an evaluee has intentionally engaged in false behavior or statements. By diagnosing malingering, psychiatrists pass judgment on truthfulness. Evaluees taking exception to the label may claim that the professional has committed defamation of character (libel or slander) when the diagnosis is wrong and costs the claimant money or benefits. Clinicians may counter by claiming immunity or that the diagnosis was made in good faith. This problem has come into focus in military and veterans' contexts, where diagnoses become thresholds for benefits. Through historical and literary examples, case law, and military/veterans' claims of disability and entitlement, the authors examine the potency of the malingering label and the potential liability for professionals and institutions of making this diagnosis. © 2017 American Academy of Psychiatry and the Law.

  13. Tuberculous abdominal abscess in an HIV-infected man: Neither infection previously diagnosed

    Directory of Open Access Journals (Sweden)

    Kuo-Yao Kao

    2010-11-01

    Full Text Available A 38-year-old man had a 1-week history of right lower quadrant abdominal pain; the initial impression was that he had diverticulitis of the ascending colon with an intra-abdominal abscess. Signs of peritonitis mandated an immediate right hemicolectomy. The unusual location of the abscess and the patient’s unusual postoperative course suggested that he might also have a systemic disease. Testing for HIV infection was positive. After 2 weeks in hospital, he was treated as an outpatient for both tuberculosis and HIV with a favourable outcome. In Taiwan a pre-operative HIV test is not performed routinely, and the HIV seroprevalence in surgical patient populations is unknown. Surgeons should keep the possibility of HIV infection in mind in a patient with an unusual clinical course.

  14. Family matters

    DEFF Research Database (Denmark)

    Kieffer-Kristensen, Rikke; Siersma, Volkert Dirk; Teasdale, Thomas William

    2013-01-01

    OBJECTIVES: To relate illness and family factors to emotional and behavioural problems in school-age children (7–14 years old) of parents with acquired brain injury and their healthy spouses. PARTICIPANTS, MATERIALS/METHODS: Members of 35 families in which a parent had been diagnosed with acquired...... brain injury participated. Family and brain injury characteristics were reported by the ill and healthy parents. Children self-reported post-traumatic stress symptoms (PSS) using the Child Impact of Events revised (CRIES). Emotional and behavioural problems among the children were also identified...... by the parents using the Achenbach’s Child Behaviour Checklist (CBCL). RESULTS: The family stress variables relating to the healthy spouse in all six comparisons were significant (p

  15. Diagnosable structured logic array

    Science.gov (United States)

    Whitaker, Sterling (Inventor); Miles, Lowell (Inventor); Gambles, Jody (Inventor); Maki, Gary K. (Inventor)

    2009-01-01

    A diagnosable structured logic array and associated process is provided. A base cell structure is provided comprising a logic unit comprising a plurality of input nodes, a plurality of selection nodes, and an output node, a plurality of switches coupled to the selection nodes, where the switches comprises a plurality of input lines, a selection line and an output line, a memory cell coupled to the output node, and a test address bus and a program control bus coupled to the plurality of input lines and the selection line of the plurality of switches. A state on each of the plurality of input nodes is verifiably loaded and read from the memory cell. A trusted memory block is provided. The associated process is provided for testing and verifying a plurality of truth table inputs of the logic unit.

  16. How Is Pelvic Pain Diagnosed?

    Science.gov (United States)

    ... Information Clinical Trials Resources and Publications How is pelvic pain diagnosed? Skip sharing on social media links Share ... needed to help diagnose the cause of the pelvic pain. These tests or procedures may include 1 , 2 : ...

  17. How Is Kawasaki Disease Diagnosed?

    Science.gov (United States)

    ... page from the NHLBI on Twitter. How Is Kawasaki Disease Diagnosed? Kawasaki disease is diagnosed based on your child's signs ... are the first to suspect a child has Kawasaki disease. Pediatricians are doctors who specialize in treating ...

  18. How Is Lactose Intolerance Diagnosed?

    Science.gov (United States)

    ... Information Clinical Trials Resources and Publications How is lactose intolerance diagnosed? Skip sharing on social media links ... people think that they or their children are lactose intolerant without being tested or diagnosed. 1 As ...

  19. Diagnosing Dementia--Positive Signs

    Science.gov (United States)

    ... Navigation Bar Home Current Issue Past Issues Diagnosing Dementia—Positive Signs Past Issues / Fall 2007 Table of ... easy, affordable blood test that could accurately diagnose Alzheimer's disease (AD)—even before symptoms began to show? Researchers ...

  20. Diagnósticos de enfermagem presentes em familiares de pacientes vítimas de queimaduras Diagnósticos de enfermería presentes en familiares de pacientes víctimas de quemaduras Nursing diagnoses of burn victims' family members

    Directory of Open Access Journals (Sweden)

    Lídia Aparecida Rossi

    2006-09-01

    Full Text Available O objetivo deste estudo foi investigar os diagnósticos de enfermagem de familiares de pacientes vítimas de queimaduras. Dezessete membros da família de pacientes vítimas de queimaduras foram avaliados por meio de observação e entrevista. Os diagnósticos de enfermagem foram estabelecidos com base na Taxionomia II da NANDA. Foram identificados 18 diferentes diagnósticos de enfermagem. Os diagnósticos: ansiedade, medo e sentimentos de pesar antecipado se caracterizaram pela manifestação de desespero ante a possibilidade da perda de um ente querido. Alguns diagnósticos, possivelmente, já estavam presentes antes do acidente ocorrer, como, por exemplo: desempenho de papéis ineficazes, manutenção do lar prejudicada, paternidade e maternidade prejudicadas.El objetivo en este estudio fue investigar los diagnósticos de enfermería de familiares de pacientes víctimas de quemaduras. Fueron evaluados diecisiete miembros de la familia de pacientes víctimas de quemaduras por medio de observación y entrevista. Los diagnósticos de enfermería fueron establecidos con base en la Taxonomía II de la NANDA. Fueron identificados 18 diferentes diagnósticos de enfermería. Los diagnósticos: ansiedad, miedo y sentimientos de pesar anticipado se caracterizaron por la manifestación de desesperación ante la posibilidad de la pérdida de un ser querido. Algunos diagnósticos, posiblemente, ya estaban presentes antes de que ocurra el accidente, como por ejemplo: desempeño de papeles ineficaces, manutención del hogar perjudicado, paternidad y maternidad perjudicadas.This study is aimed at investigating the nursing diagnoses of family members of burn victims. Seventeen family members were evaluated through observation and interviews. Nursing diagnoses were established on the basis of NANDA Taxonomy II. Eighteen different nursing diagnoses were identified. The diagnoses: anxiety, fear and anticipatory grieving were characterized through the

  1. Familial Mediterranean Fever

    Science.gov (United States)

    ... don't use genetic tests as the sole method of diagnosing familial Mediterranean fever. There's no cure ... may be options, though these treatments are considered experimental. Other medications include rilonacept (Arcalyst) and anakinra (Kineret). ...

  2. Physician Survey Assessing Pelvic Inflammatory Disease Knowledge and Attitudes to Identify Diagnosing and Reporting Barriers.

    Science.gov (United States)

    Pacheco, Misty; Katz, Alan R; Hayes, Donald; Maddock, Jay E

    2016-01-01

    Pelvic inflammatory disease (PID) is a notifiable disease in Hawaii with legal implications for noncompliance. A previous study comparing PID diagnoses in Hawaii's hospitals and state surveillance data confirmed underreporting in Hawaii. Reasons for noncompliance and underreporting are not well understood. All licensed primary care physicians in Hawaii were mailed a survey addressing PID diagnosis and reporting attitudes and practices. Hierarchical logistic regression was used to determine if physician characteristics, PID knowledge, or attitudes related to the diagnosis or reporting of PID, increased the odds of diagnosing and reporting PID. Among survey respondents (486 of 1,062; response rate of 45.8%), 104 (21.4%) had diagnosed PID. The PID reporting rate was 55.8% (58 of 104). The majority of physicians who diagnosed PID reported that PID reporting was time consuming. In hierarchical regression, obstetrician/gynecologists and family practitioners had the highest odds of diagnosing PID and internists had the lowest odds of reporting PID, those 15 years or longer since residency were less likely to report PID than those fewer than 15 years since residency, and increased PID diagnosing and reporting knowledge increased the odds of PID reporting by 1.63 times. Our findings suggest the need for training of all physicians on reportable diagnoses on a regular basis. There is a need to simplify the reporting process, because the time burden of reporting may present a modifiable barrier to reporting. Increased PID-related communication between local health departments and physicians is essential, and physicians should be provided technical assistance with reporting. Copyright © 2016 Jacobs Institute of Women's Health. Published by Elsevier Inc. All rights reserved.

  3. The Role of Family Functioning in Bipolar Disorder in Families

    Science.gov (United States)

    Du Rocher Schudlich, Tina D.; Youngstrom, Eric A.; Calabrese, Joseph R.; Findling, Robert L.

    2008-01-01

    Investigated the association between family functioning and conflict and their links with mood disorder in parents and with children's risk for bipolar disorder. Participants were 272 families with a child between the ages of 5-17 years. Parents' history of psychiatric diagnoses and children's current diagnoses were obtained via semi-structured…

  4. Diagnosing oceanic nutrient deficiency

    Science.gov (United States)

    Moore, C. Mark

    2016-11-01

    The supply of a range of nutrient elements to surface waters is an important driver of oceanic production and the subsequent linked cycling of the nutrients and carbon. Relative deficiencies of different nutrients with respect to biological requirements, within both surface and internal water masses, can be both a key indicator and driver of the potential for these nutrients to become limiting for the production of new organic material in the upper ocean. The availability of high-quality, full-depth and global-scale datasets on the concentrations of a wide range of both macro- and micro-nutrients produced through the international GEOTRACES programme provides the potential for estimation of multi-element deficiencies at unprecedented scales. Resultant coherent large-scale patterns in diagnosed deficiency can be linked to the interacting physical-chemical-biological processes which drive upper ocean nutrient biogeochemistry. Calculations of ranked deficiencies across multiple elements further highlight important remaining uncertainties in the stoichiometric plasticity of nutrient ratios within oceanic microbial systems and caveats with regards to linkages to upper ocean nutrient limitation. This article is part of the themed issue 'Biological and climatic impacts of ocean trace element chemistry'.

  5. Diagnosing mucopolysaccharidosis IVA.

    Science.gov (United States)

    Wood, Timothy C; Harvey, Katie; Beck, Michael; Burin, Maira Graeff; Chien, Yin-Hsiu; Church, Heather J; D'Almeida, Vânia; van Diggelen, Otto P; Fietz, Michael; Giugliani, Roberto; Harmatz, Paul; Hawley, Sara M; Hwu, Wuh-Liang; Ketteridge, David; Lukacs, Zoltan; Miller, Nicole; Pasquali, Marzia; Schenone, Andrea; Thompson, Jerry N; Tylee, Karen; Yu, Chunli; Hendriksz, Christian J

    2013-03-01

    Mucopolysaccharidosis IVA (MPS IVA; Morquio A syndrome) is an autosomal recessive lysosomal storage disorder resulting from a deficiency of N-acetylgalactosamine-6-sulfate sulfatase (GALNS) activity. Diagnosis can be challenging and requires agreement of clinical, radiographic, and laboratory findings. A group of biochemical genetics laboratory directors and clinicians involved in the diagnosis of MPS IVA, convened by BioMarin Pharmaceutical Inc., met to develop recommendations for diagnosis. The following conclusions were reached. Due to the wide variation and subtleties of radiographic findings, imaging of multiple body regions is recommended. Urinary glycosaminoglycan analysis is particularly problematic for MPS IVA and it is strongly recommended to proceed to enzyme activity testing even if urine appears normal when there is clinical suspicion of MPS IVA. Enzyme activity testing of GALNS is essential in diagnosing MPS IVA. Additional analyses to confirm sample integrity and rule out MPS IVB, multiple sulfatase deficiency, and mucolipidoses types II/III are critical as part of enzyme activity testing. Leukocytes or cultured dermal fibroblasts are strongly recommended for enzyme activity testing to confirm screening results. Molecular testing may also be used to confirm the diagnosis in many patients. However, two known or probable causative mutations may not be identified in all cases of MPS IVA. A diagnostic testing algorithm is presented which attempts to streamline this complex testing process.

  6. Risk perception and unrecognized type 2 diabetes in women with previous gestational diabetes mellitus.

    Science.gov (United States)

    Malcolm, Janine; Lawson, Margaret L; Gaboury, Isabelle; Keely, Erin

    2009-09-01

    Women with a history of gestational diabetes mellitus (GDM) have a high chance of developing type 2 diabetes mellitus (T2DM) following the index pregnancy, however, little is known of women's perception of this risk. The objectives were to (1) determine women's perception of risk of future development of T2DM following a GDM pregnancy and (2) describe the prevalence of undetected dysglycaemia in a Canadian population. The study was designed as a 9-11 year follow-up study of women previously enrolled in a randomized controlled trial of tight versus minimal intervention for GDM. Women's perception of future risk of diabetes was determined by questionnaire. Fasting lipid profile, height and weight were performed on all participants. Oral glucose tolerance tests were performed on all women without prior history of diabetes mellitus type 2 (DM2). The study was conducted at Ottawa Hospital General Campus and Children's Hospital of Eastern Ontario, in Ottawa, Canada. Eighty-nine of 299 (30%) of the original cohort were recruited. Eighty-eight women completed the questionnaire and 77 women without known diabetes underwent two hour glucose tolerance testing. Twenty-three (30%) felt their risk was no different than other women or did not know, 27 (35%) felt risk was increased a little and 27 (35%) felt risk was increased a lot. Only 52% (40/77) had normal glucose tolerance. Of all, 25/88 (28%) patients had diabetes (11 previously diagnosed and 14 diagnosed within the study). Of those newly diagnosed with DM2, four (29%) were diagnosed by fasting glucose, six (42%) by two hour glucose tolerance test (GTT) alone and four (29%) by both. Twenty-four of the women (27%) had impaired glucose tolerance (IGT). Of those with IGT, 12 (57%) had a fasting food glucose perception group with newly diagnosed diabetes, two were overweight, seven were obese, four had a family history of DM2, and all had a waist circumference >88 cm. In conclusion the perception of being at high risk for T2DM

  7. Follow-up of prenatally diagnosed unilateral hydronephrosis

    DEFF Research Database (Denmark)

    Thorup, Jørgen Mogens; Lenz, K; Rabol, A

    1996-01-01

    Based on previous experience with prenatally diagnosed unilateral hydronephrosis, we found that the primary indications for surgical intervention should be symptoms or functional impairment of the hydronephrotic kidney. Nonoperative management of neonates without symptoms and with normal function...

  8. Diagnosing Intermittent and Persistent Faults using Static Bayesian Networks

    Science.gov (United States)

    Megshoel, Ole Jakob

    2010-01-01

    Both intermittent and persistent faults may occur in a wide range of systems. We present in this paper the introduction of intermittent fault handling techniques into ProDiagnose, an algorithm that previously only handled persistent faults. We discuss novel algorithmic techniques as well as how our static Bayesian networks help diagnose, in an integrated manner, a range of intermittent and persistent faults. Through experiments with data from the ADAPT electrical power system test bed, generated as part of the Second International Diagnostic Competition (DXC-10), we show that this novel variant of ProDiagnose diagnoses intermittent faults accurately and quickly, while maintaining strong performance on persistent faults.

  9. Diagnosing Mitochondrial Disorder without Sophisticated Means

    Directory of Open Access Journals (Sweden)

    Josef Finsterer

    2015-10-01

    Full Text Available Mitochondrial disorders (MIDs require biochemical or genetic investigations for being diagnosed. In some cases, however, the diagnosis can be suspected upon the syndromic phenotype or upon clinical presentation and family history, as in the following case. The patient was a 74-year-old male admitted for worsening of pre-existing left-sided ptosis and ophthalmoparesis after a birthday party. The history was positive for arterial hypertension, hypertrophic cardiomyopathy with systolic dysfunction, diabetes-type 2, mild renal insufficiency, thyroiditis, and polyneuropathy. Instrumental investigations additionally revealed hepatopathy, hyperlipidemia, hyperuricemia, bifascicular block, white matter lesions, and subacute stroke. Systolic dysfunction resolved upon adequate cardiac treatment. On hospital day 11 the patient suddenly developed asystole. He was successfully resuscitated but died a few hours later from acute myocardial infarction. Surprisingly, a more extensive family history was positive for myopathy (patient, brother, daughter, neuropathy (patient, hypoacusis (patient, Parkinson syndrome (mother, spasticity (son, diabetes (patient, son, renal failure (patient, and generalized atherosclerosis (patient. The individual and family history was strongly suggestive of an MID. In conclusion, individual and family history may strongly suggest MID. Phenotypic variability may be high between family members affected by an MID. MID may be associated with an increasing atherosclerotic risk lastly resulting in coronary heart disease and death.

  10. Descobrindo a Doença de Parkinson: impacto para o parkinsoniano e seu familiar Descubriendo la Enfermedad de Parkinson: impacto para el parkinsoniano y su familiar Diagnosed with Parkinson's Diesease: impact on patients and family members

    Directory of Open Access Journals (Sweden)

    Fabiana Magalhães Navarro Peternella

    2009-02-01

    Full Text Available Estudo de natureza qualitativa, com o objetivo de compreender o impacto do diagnóstico de Parkinson para o individuo e família. Os dados foram coletados no período de Outubro a Dezembro de 2007, junto a 20 indivíduos residentes em Maringá - PR, sendo dez parkinsonianos e seu familiar mais próximo, por meio de entrevista semi-estruturada. Na análise dos dados emergiram dois temas: "Descobrindo-se portador de doença de Parkinson" e "Percalços e sentimentos após o diagnostico", os quais revelam que a falta de conhecimento sobre a doença ainda é muito grande e que a qualidade do primeiro contato com o diagnóstico é crucial na determinação e comportamento dos indivíduos frente à doença.Estudio de naturaleza cualitativa, desarrollado con el objetivo de comprender el impacto del diagnóstico de Parkinson para el individuo y familia. Los datos fueron recogidos en el período de Octubre a Diciembre de 2007, junto a 20 individuos residentes en Maringá - PR, siendo diez parkinsonianos y su familiar más próximo, por medio de entrevista semiestructurada. En el análisis de los datos emergieron dos temas: "Descubriéndose portador de enfermedad de Parkinson: una larga trayectoria" y "Percances y sentimientos después del diagnóstico", los cuales revelan que la falta de conocimiento sobre la enfermedad aún es muy grande en la población en general y que la calidad del primer contacto con el diagnóstico es crucial en la determinación y comportamiento de los individuos frente la enfermedad.This was a qualitative nature, developed with the objective of understanding the impact of a Parkinson's diagnosis on the individual and the family. Data were collected between October and December 2007, from 20 individuals residing in Maringá, PR - 10 Parkinson's patients and their closest family member - using semi-structured interviews. From the analysis of the data, two themes emerged: "Coming to terms as a Parkinson's patient: a long path" and

  11. Personality traits among ADHD adults: implications of late-onset and subthreshold diagnoses.

    Science.gov (United States)

    Faraone, S V; Kunwar, A; Adamson, J; Biederman, J

    2009-04-01

    Diagnosing attention deficit hyperactivity disorder (ADHD) in adults is difficult when diagnosticians cannot establish onset prior to the DSM-IV criterion of age 7 or if the number of symptoms does not achieve the DSM threshold for diagnosis. Previous work has assessed the validity of such diagnoses based on psychiatric co-morbidity, family history and neuropsychological functions but none of these studies have used personality as a validation criterion. We compared four groups of adults: (1) full ADHD subjects who met all DSM-IV criteria for childhood-onset ADHD; (2) late-onset subjects who met all criteria except the age at onset criterion, (3) subthreshold subjects who did not meet full symptom criteria and (4) non-ADHD subjects who did not meet any of the above criteria. Diagnoses were made by using the Structured Clinical Interview for DSM-IV (SCID) and the Temperament and Character Inventory (TCI) was used to assess personality traits. We found that full ADHD and late-onset ADHD showed similar personality profiles with significant deviations on all TCI scales except reward dependence and self-transcendence. By contrast, subthreshold cases only showed deviations on novelty seeking and self-directiveness. These data call into question the stringent age of onset of ADHD symptom criteria for adults when making retrospective diagnoses of ADHD. Subthreshold ADHD seems to be a milder form of the disorder that is consistent with dimensional views of the disorder.

  12. Diagnosing bipolar disorder in children and adolescents.

    Science.gov (United States)

    Chang, Kiki D

    2009-11-01

    Pediatric-onset bipolar disorder is common but often difficult to diagnose in younger patients. Clinicians should be sure to establish the presence of a full manic episode to make the diagnosis of bipolar I disorder. Because adult criteria are used for children and adolescents, clinicians also should be aware of developmental norms that can help to make an accurate diagnosis. Bipolar disorder NOS and other disorders in children and adolescents may be prodromal states for bipolar disorder, especially in the presence of a positive family history. Copyright 2009 Physicians Postgraduate Press, Inc.

  13. Sebacinales everywhere: previously overlooked ubiquitous fungal endophytes.

    Science.gov (United States)

    Weiss, Michael; Sýkorová, Zuzana; Garnica, Sigisfredo; Riess, Kai; Martos, Florent; Krause, Cornelia; Oberwinkler, Franz; Bauer, Robert; Redecker, Dirk

    2011-02-15

    Inconspicuous basidiomycetes from the order Sebacinales are known to be involved in a puzzling variety of mutualistic plant-fungal symbioses (mycorrhizae), which presumably involve transport of mineral nutrients. Recently a few members of this fungal order not fitting this definition and commonly referred to as 'endophytes' have raised considerable interest by their ability to enhance plant growth and to increase resistance of their host plants against abiotic stress factors and fungal pathogens. Using DNA-based detection and electron microscopy, we show that Sebacinales are not only extremely versatile in their mycorrhizal associations, but are also almost universally present as symptomless endophytes. They occurred in field specimens of bryophytes, pteridophytes and all families of herbaceous angiosperms we investigated, including liverworts, wheat, maize, and the non-mycorrhizal model plant Arabidopsis thaliana. They were present in all habitats we studied on four continents. We even detected these fungi in herbarium specimens originating from pioneering field trips to North Africa in the 1830s/40s. No geographical or host patterns were detected. Our data suggest that the multitude of mycorrhizal interactions in Sebacinales may have arisen from an ancestral endophytic habit by specialization. Considering their proven beneficial influence on plant growth and their ubiquity, endophytic Sebacinales may be a previously unrecognized universal hidden force in plant ecosystems.

  14. Sebacinales everywhere: previously overlooked ubiquitous fungal endophytes.

    Directory of Open Access Journals (Sweden)

    Michael Weiss

    Full Text Available Inconspicuous basidiomycetes from the order Sebacinales are known to be involved in a puzzling variety of mutualistic plant-fungal symbioses (mycorrhizae, which presumably involve transport of mineral nutrients. Recently a few members of this fungal order not fitting this definition and commonly referred to as 'endophytes' have raised considerable interest by their ability to enhance plant growth and to increase resistance of their host plants against abiotic stress factors and fungal pathogens. Using DNA-based detection and electron microscopy, we show that Sebacinales are not only extremely versatile in their mycorrhizal associations, but are also almost universally present as symptomless endophytes. They occurred in field specimens of bryophytes, pteridophytes and all families of herbaceous angiosperms we investigated, including liverworts, wheat, maize, and the non-mycorrhizal model plant Arabidopsis thaliana. They were present in all habitats we studied on four continents. We even detected these fungi in herbarium specimens originating from pioneering field trips to North Africa in the 1830s/40s. No geographical or host patterns were detected. Our data suggest that the multitude of mycorrhizal interactions in Sebacinales may have arisen from an ancestral endophytic habit by specialization. Considering their proven beneficial influence on plant growth and their ubiquity, endophytic Sebacinales may be a previously unrecognized universal hidden force in plant ecosystems.

  15. A previously undescribed pathway for pyrimidine catabolism.

    Science.gov (United States)

    Loh, Kevin D; Gyaneshwar, Prasad; Markenscoff Papadimitriou, Eirene; Fong, Rebecca; Kim, Kwang-Seo; Parales, Rebecca; Zhou, Zhongrui; Inwood, William; Kustu, Sydney

    2006-03-28

    The b1012 operon of Escherichia coli K-12, which is composed of seven unidentified ORFs, is one of the most highly expressed operons under control of nitrogen regulatory protein C. Examination of strains with lesions in this operon on Biolog Phenotype MicroArray (PM3) plates and subsequent growth tests indicated that they failed to use uridine or uracil as the sole nitrogen source and that the parental strain could use them at room temperature but not at 37 degrees C. A strain carrying an ntrB(Con) mutation, which elevates transcription of genes under nitrogen regulatory protein C control, could also grow on thymidine as the sole nitrogen source, whereas strains with lesions in the b1012 operon could not. Growth-yield experiments indicated that both nitrogens of uridine and thymidine were available. Studies with [(14)C]uridine indicated that a three-carbon waste product from the pyrimidine ring was excreted. After trimethylsilylation and gas chromatography, the waste product was identified by mass spectrometry as 3-hydroxypropionic acid. In agreement with this finding, 2-methyl-3-hydroxypropionic acid was released from thymidine. Both the number of available nitrogens and the waste products distinguished the pathway encoded by the b1012 operon from pyrimidine catabolic pathways described previously. We propose that the genes of this operon be named rutA-G for pyrimidine utilization. The product of the divergently transcribed gene, b1013, is a tetracycline repressor family regulator that controls transcription of the b1012 operon negatively.

  16. The effectiveness of school-based family asthma educational programs on the quality of life and number of asthma exacerbations of children aged five to 18 years diagnosed with asthma: a systematic review protocol.

    Science.gov (United States)

    Walter, Helen; Sadeque-Iqbal, Fatema; Ulysse, Rose; Castillo, Doreen; Fitzpatrick, Aileen; Singleton, Joanne

    2015-10-01

    The objective of this review is to identify the best available quantitative evidence related to the effectiveness of school-based family asthma educational programs on the quality of life and number of asthma exacerbations of children aged five to18 years with a diagnosis of asthma. Asthma is a serious public health issue globally and nationally. The World Health Organization (WHO) Global Asthma Report 2014 estimates that 334 million people worldwide currently suffer from asthma. In the United States, asthma currently affects about 25 million people. Although asthma can occur at any age, it most often begins early in life, and is the most common non-communicable disease among children. Approximately 14% of the world's children have asthma. In the United States, 7.1 million children have asthma. Globally, the burden of asthma, measured by disability and premature death, is greatest in children approaching adolescence (ages 10-14). Asthma is also a serious economic concern in primary health care worldwide. In the United States, the estimated total cost of asthma to society was US$56 billion in 2007, or US$3259 per person. In 2008 asthma caused 10.5 million missed days from school and 14.2 missed days from work for caregivers. The estimated total cost of loss of productivity resulting from missed school or work days is US$3.8 billion per year, and premature death US$2.1 billion per year. Globally, asthma ranks 14 in terms of disability adjusted life years (DALYs), which are the number of years lost to ill health, disability or death attributed to asthma. According to a 2011 European study, the estimated total cost of asthma was €19.3 billion among people aged 15 to 64 years. A study conducted in the Asia-Pacific region reported that the direct and indirect costs of asthma per person ranged from US$184 in Vietnam to US$1189in Hong Kong in 2000. A Canadian study showed that C$184 loss of productivity during one week was attributed to asthma in 2012. In Australia, AU

  17. Vision improvement in a Taiwanese (Han Chinese) family with Leber's hereditary optic neuropathy.

    Science.gov (United States)

    Lin, Hong-Zin; Pang, Cheng-Yoong; Chen, Shee-Ping; Tsai, Rong-Kung

    2012-12-01

    In this report, we describe a Taiwanese (Han Chinese) family with Leber's hereditary optic neuropathy. The family carried a mitochondrial DNA mutation (mtDNA m.14484T>C) associated with spontaneous visual improvement. A 15-year-old boy from this family was diagnosed with Leber's hereditary optic neuropathy 6 months after losing his vision. His vision recovered after 8 months of supportive treatment. His mother, older brother, and two sisters also had the same mutation and had previously experienced vision loss. In this family, there was no male predominance.

  18. Snapshot quiz - recurrent right iliac fossa pain in the patient with a previous history of appendicitis.

    Science.gov (United States)

    Aris Chandran, Johan; Cobb, Will A; Keeler, Barrie D; Soin, Bob

    2015-06-01

    A low threshold for computed tomography (CT) scanning in patients with previous appendicectomy and right iliac fossa pain helps facilitate timely diagnosis and exclusion of other differential diagnoses. Here, we present a rare cause which has significant medicolegal ramifications and is accurately diagnosed with CT.

  19. Intrauterine endometriotic cyst at the site of previous cesarean scar; scar endometriosis.

    Science.gov (United States)

    Isci, H; Gonenc, G; Yigiter, A B; Guducu, N; Dünder, I

    2015-01-01

    Uterine scar endometriosis is an extremely rare entitiy. As the surgical procedures of the uterus increases through time, scar endometriosis may be diagnosed more often in the future. A case of uterine scar endometriosis is presented with complaints of menstruation lasting one day with associated pelvic pain. When a cystic mass in the site of previous surgery is diagnosed, scar endometriosis must be considered.

  20. Hospital-diagnosed dementia and suicide

    DEFF Research Database (Denmark)

    Erlangsen, Annette; Zarit, Steven H; Conwell, Yeates

    2008-01-01

    OBJECTIVE: The current study aims to examine the risk of suicide in persons diagnosed with dementia during a hospitalization and its relationship to mood disorders. DESIGN: Event-history analysis using time-varying covariates. SETTING: Population-based record linkage. PARTICIPANTS: All individuals...... aged 50+ living in Denmark (N=2,474,767) during January 1, 1990 through December 31, 2000. MEASUREMENTS: Outcome of interest is suicide. Relative risks are calculated based on person-days spent in each stratum. RESULTS: A total of 18,648,875 person-years were observed during the 11-year study period....... During this period, 136 persons who previously had been diagnosed with dementia died by suicide. Men and women aged 50-69 years with hospital presentations of dementia have a relative suicide risk of 8.5 (95% confidence interval: 6.3-11.3) and 10.8 (95% confidence interval: 7.4-15.7), respectively. Those...

  1. How to diagnose cardiac tamponade

    NARCIS (Netherlands)

    van Steijn, JHM; Sleijfer, DT; van der Graaf, WTA; van der Sluis, A; Nieboer, P

    2002-01-01

    Malignant pericardial effusion is a potentially fatal complication of malignancy unless recognised and treated promptly. Patients with this condition are often difficult to diagnose. Physical examination, chest radiography and electrocardiography have poor diagnostic values in identification of pati

  2. How Is Stomach Cancer Diagnosed?

    Science.gov (United States)

    ... Cancer Early Detection, Diagnosis, and Staging How Is Stomach Cancer Diagnosed? Stomach cancers are usually found when ... Ask Your Doctor About Stomach Cancer? More In Stomach Cancer About Stomach Cancer Causes, Risk Factors, and ...

  3. How Is Marfan Syndrome Diagnosed?

    Science.gov (United States)

    ... common in many people. Doctors use a scoring system based on the number and type of Ghent criteria present to diagnose Marfan syndrome. Talk ... National Institutes of Health Department of Health and Human Services USA.gov

  4. How Is Thyroid Cancer Diagnosed?

    Science.gov (United States)

    ... Cancer Early Detection, Diagnosis, and Staging Tests for Thyroid Cancer Thyroid cancer may be diagnosed after a person ... Health Care Team About Thyroid Cancer? More In Thyroid Cancer About Thyroid Cancer Causes, Risk Factors, and Prevention ...

  5. How Is Ovarian Cancer Diagnosed?

    Science.gov (United States)

    ... Cancer Early Detection, Diagnosis, and Staging How Is Ovarian Cancer Diagnosed? If you have symptoms of ovarian cancer ... Ask Your Doctor About Ovarian Cancer? More In Ovarian Cancer About Ovarian Cancer Causes, Risk Factors, and Prevention ...

  6. How to diagnose cardiac tamponade

    NARCIS (Netherlands)

    van Steijn, JHM; Sleijfer, DT; van der Graaf, WTA; van der Sluis, A; Nieboer, P

    Malignant pericardial effusion is a potentially fatal complication of malignancy unless recognised and treated promptly. Patients with this condition are often difficult to diagnose. Physical examination, chest radiography and electrocardiography have poor diagnostic values in identification of

  7. A family with two children diagnosed with aspartylglucosaminuria--case report and literature review%天冬氨酰基葡萄糖胺尿症一家系二例报道并文献复习

    Institute of Scientific and Technical Information of China (English)

    刘玉洁; 邹丽萍; 孟岩; 张颖; 石秀玉; 鞠俊; 杨光; 胡琳燕; 陈小桥

    2014-01-01

    目的 探讨天冬氨酰基葡萄糖胺尿症(AGU)的临床特征和基因突变特点.方法 回顾性分析一家系2例AGU同胞患儿的病例资料,并复习相关文献,分析本病的临床特点、影像学特征、酶学特征和基因突变特点.结果 病例1为先证者,男,1岁8个月,因“发热伴肝、脾肿大9d”入院.患儿营养状态中等,发育正常.血常规示血红蛋白78.0 g/L、红细胞3.18×1012/L、白细胞4.06×109/L、中性粒细胞0.236、淋巴细胞0.631、血小板34×109/L、C反应蛋白17 mg/L.血生化示丙氨酸氨基转移酶67.1 U/L、天冬氨酸氨基转移酶74.1 U/L、血清白蛋白32.8g/L、直接胆红素10.5 μmol/L、乳酸脱氢酶301.7 U/L.骨髓细胞学检查示反应性骨髓细胞形态改变;外周血及骨髓涂片中均可见异型淋巴细胞.头颅MRI显示髓鞘发育不良.外周血白细胞天冬氨酰氨基葡萄糖苷酶(AGA)活性5.7 nmol/(g·min)[正常值>26.6 nmol/(g·min)].基因分析显示患儿AGA基因第3外显子存在一个杂合变异位点c.392C> T(p.S131L),为未报道的新突变,来自父亲,未检测到母源基因突变.先证者经抗感染、营养支持及对症治疗无效,1个月后死亡.例2为先证者的哥哥,4岁时因发热,肝、脾肿大就诊,反复呼吸道感染,智力倒退,行为异常,头颅MRI显示双侧大脑、小脑及脑干广泛对称性白质损害,6岁时死亡.总结相关文献发现国内尚未报道,国外报道221例,总结其临床特点,语言发育障碍是多数患儿被父母注意的首个临床症状.结论 AGU缺乏特异性症状,对于不明原因的语言落后伴智力进行性低下的患儿应考虑AGU的可能,争取酶学及基因诊断.c.392C>T(p.S131L)为AGA基因的一种新突变.%Objective The authors sought to investigate the clinical features and characteristics of genetic mutation in patients with aspartylglucosaminuria.Method Clinical data of two pediatric siblings in a family were analyzed

  8. Recurrent APC gene mutations in Polish FAP families

    Directory of Open Access Journals (Sweden)

    Pławski Andrzej

    2007-12-01

    Full Text Available Abstract The molecular diagnostics of genetically conditioned disorders is based on the identification of the mutations in the predisposing genes. Hereditary cancer disorders of the gastrointestinal tracts are caused by mutations of the tumour suppressor genes or the DNA repair genes. Occurrence of recurrent mutation allows improvement of molecular diagnostics. The mutation spectrum in the genes causing hereditary forms of colorectal cancers in the Polish population was previously described. In the present work an estimation of the frequency of the recurrent mutations of the APC gene was performed. Eight types of mutations occurred in 19.4% of our FAP families and these constitute 43% of all Polish diagnosed families.

  9. Accuracy of Veterans Affairs Databases for Diagnoses of Chronic Diseases

    OpenAIRE

    Singh, Jasvinder A.

    2009-01-01

    Introduction Epidemiologic studies usually use database diagnoses or patient self-report to identify disease cohorts, but no previous research has examined the extent to which self-report of chronic disease agrees with database diagnoses in a Veterans Affairs (VA) health care setting. Methods All veterans who had a medical care visit from October 1, 1996, through May 31, 1998, at any of the Veterans Integrated Service Network 13 facilities were surveyed about physician diagnosis of chronic ob...

  10. 77 FR 70176 - Previous Participation Certification

    Science.gov (United States)

    2012-11-23

    ... URBAN DEVELOPMENT Previous Participation Certification AGENCY: Office of the Chief Information Officer... digital submission of all data and certifications is available via HUD's secure Internet systems. However...: Previous Participation Certification. OMB Approval Number: 2502-0118. Form Numbers: HUD-2530 ....

  11. Moyamoya disease in a child with previous acute necrotizing encephalopathy

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Taik-Kun; Cha, Sang Hoon; Chung, Kyoo Byung; Kim, Jung Hyuck; Kim, Baek Hyun; Chung, Hwan Hoon [Department of Diagnostic Radiology, Korea University College of Medicine, Ansan Hospital, 516 Kojan-Dong, Ansan City, Kyungki-Do 425-020 (Korea); Eun, Baik-Lin [Department of Pediatrics, Korea University College of Medicine, Seoul (Korea)

    2003-09-01

    A previously healthy 24-day-old boy presented with a 2-day history of fever and had a convulsion on the day of admission. MRI showed abnormal signal in the thalami, caudate nuclei and central white matter. Acute necrotising encephalopathy was diagnosed, other causes having been excluded after biochemical and haematological analysis of blood, urine and CSF. He recovered, but with spastic quadriparesis. At the age of 28 months, he suffered sudden deterioration of consciousness and motor weakness of his right limbs. MRI was consistent with an acute cerebrovascular accident. Angiography showed bilateral middle cerebral artery stenosis or frank occlusion with numerous lenticulostriate collateral vessels consistent with moyamoya disease. (orig.)

  12. Challenges in diagnosing hepatic encephalopathy.

    Science.gov (United States)

    Weissenborn, K

    2015-02-01

    The term "hepatic encephalopathy" (HE) covers the neuropsychiatric syndrome associated with acute, chronic and acute-on-chronic liver disease (CLD). This paper deals with clinical features and diagnosis of HE in patients with liver cirrhosis and portal hypertension or porto-systemic shunts. The possible impact of concomitant disorders and the cirrhosis underlying liver disease upon brain function is described emphasizing the need of a detailed diagnostic work up of every individual case before diagnosing HE. Currently used methods for diagnosing minimal or covert hepatic encephalopathy are compared with regard to their sensitivity and specificity for diagnosing HE against the background of a multitude of concomitant disorders and diseases that could contribute to brain dysfunction.

  13. Immunological methods for diagnosing neurocysticercosis

    Energy Technology Data Exchange (ETDEWEB)

    Kuhn, R.E.; Estrada, J.J.; Grogl, M.

    1989-01-31

    A method is described for diagnosing active human neurocysticercosis by detecting the presence of at least one Taenia solium larval antigen in cerebrospinal fluid, which comprises: contacting cerebrospinal fluid from a human to be diagnosed with a solid support, wherein the support binds with a Taenia solium larval antigen if present, contacting the support with a first antibody, wherein the first antibody binds with a larval Taenia solium antigen if present in the cerebrospinal fluid, contacting the solid support with a detectable second antibody which will bind with the first antibody, and detecting the second antibody bound to the support.

  14. Relations between the course of illness, family history of schizophrenia and family functioning in persons with schizophrenia.

    Science.gov (United States)

    Dadić-Hero, Elizabeta; Ruzić, Klementina; Palijan, Tija Zarković; Graovac, Mirjana; Siuc-Valković, Dunja; Knez, Rajna; Grahovac, Tanja

    2013-03-01

    The aims of this study were to identify the aspects of family functioning which are associated with the course and remission of schizophrenia and to explore relations between aspects of family functioning and family history of schizophrenia. The subjects were 90 patients, treated at the Clinical hospital centre in Rijeka, Croatia, with diagnosed schizophrenia (F20.0 to F20.5) and without psychiatric comorbidity. The patients were organized into three groups depending on the treatment status during the calendar year that preceded the year in which the survey took place: patients with schizophrenia who received an outpatient care and were maintaining favourable remission, patients who were hospitalized once to twice and patients who were hospitalized at least three times in the precedent calendar year. The treatment status was used as an indicator of the course of the illness. A Family Functioning Scale was applied and the data on the absence/presence of schizophrenia in the family history were collected through the examination of previous medical records. The lowest prevalence of familial schizophrenia was found among the patients who were maintaining favourable remission. Among the three groups statistically significant differences were found regarding the following family functioning variables: expressiveness, family sociability, democratic family style. Also there were observed statistically significant differences in the family functioning depending on the presence/absence of the schizophrenia in the family history that included following domains: family cohesion, external locus of control and democratic family style. Our study gives support to the conclusion that family functioning of persons with schizophrenia differs depending on the course of the illness and presence/absence of schizophrenia in the family history.

  15. A family at risk: congenital prosopagnosia, poor face recognition and visuoperceptual deficits within one family.

    Science.gov (United States)

    Johnen, Andreas; Schmukle, Stefan C; Hüttenbrink, Judith; Kischka, Claudia; Kennerknecht, Ingo; Dobel, Christian

    2014-05-01

    Congenital prosopagnosia (CP) describes a severe face processing impairment despite intact early vision and in the absence of overt brain damage. CP is assumed to be present from birth and often transmitted within families. Previous studies reported conflicting findings regarding associated deficits in nonface visuoperceptual tasks. However, diagnostic criteria for CP significantly differed between studies, impeding conclusions on the heterogeneity of the impairment. Following current suggestions for clinical diagnoses of CP, we administered standardized tests for face processing, a self-report questionnaire and general visual processing tests to an extended family (N=28), in which many members reported difficulties with face recognition. This allowed us to assess the degree of heterogeneity of the deficit within a large sample of suspected CPs of similar genetic and environmental background. (a) We found evidence for a severe face processing deficit but intact nonface visuoperceptual skills in three family members - a father and his two sons - who fulfilled conservative criteria for a CP diagnosis on standardized tests and a self-report questionnaire, thus corroborating findings of familial transmissions of CP. (b) Face processing performance of the remaining family members was also significantly below the mean of the general population, suggesting that face processing impairments are transmitted as a continuous trait rather than in a dichotomous all-or-nothing fashion. (c) Self-rating scores of face recognition showed acceptable correlations with standardized tests, suggesting this method as a viable screening procedure for CP diagnoses. (d) Finally, some family members revealed severe impairments in general visual processing and nonface visual memory tasks either in conjunction with face perception deficits or as an isolated impairment. This finding may indicate an elevated risk for more general visuoperceptual deficits in families with prosopagnosic members.

  16. Diagnosing GORD in respiratory medicine

    Directory of Open Access Journals (Sweden)

    Chris James Timms

    2011-07-01

    Full Text Available Gastroesophageal reflux disease is increasing in prevalence and is associated with several lung diseases such as asthma and COPD. Current diagnostic methods are imperfect, being insensitive, nonspecific, expensive or invasive. An accurate diagnosis of GORD can aid effective treatment with a significant clinical impact. Novel methods such as exhaled breath condensate analysis and electronic nose technology have the potential to improve the accuracy of diagnosing GORD.

  17. Birth after previous cesarean delivery: short-term maternal outcomes.

    Science.gov (United States)

    Lydon-Rochelle, Mona T; Cahill, Alison G; Spong, Catherine Y

    2010-08-01

    An estimated 40% of the 1.3 million cesarean deliveries performed each year in the United States are repeat procedures. The appropriate clinical management approach for women with previous cesarean delivery remains challenging because options are limited. The risks and benefits of clinical management choices in the woman's health need to be quantified. Thus, we discuss the available published scientific data on (1) the short-term maternal outcomes of trial of labor after cesarean and elective repeat cesarean delivery, (2) the differences between outcomes for both, (3) the important factors that influence these outcomes, and (4) successful vs. unsuccessful vaginal birth after cesarean. For women with a previous cesarean delivery, a successful trial of labor offers several distinct, consistently reproducible advantages compared with elective repeat cesarean delivery, including fewer hysterectomies, fewer thromboembolic events, lower blood transfusion rates, and shorter hospital stay. However, when trial of labor after cesarean fails, emergency cesarean is associated with increased uterine rupture, hysterectomy, operative injury, blood transfusion, endometritis, and longer hospital stay. Care of women with a history of previous cesarean delivery involves a confluence of interactions between medical and nonmedical factors; however, the most important determinants of the short-term outcomes among these women are likely individualized counseling, accurate clinical diagnoses, and careful management during a trial of labor. We recommend a randomized controlled trial among women undergoing a TOLAC and a longitudinal cohort study among women with previous cesarean to evaluate adverse outcomes, with focused attention on both mother and the infant.

  18. [Prevalence of performing and prescribing physical exercise in patients diagnosed with anxiety and depression].

    Science.gov (United States)

    Iglesias Martínez, Bibiana; Olaya Velázquez, Inés; Gómez Castro, María José

    2015-01-01

    To estimate the prevalence of physical exercise practice in patients diagnosed with anxiety and/or depression. Cross-sectional, observational study. Sabugo and la Magdalena primary care centers in Avilés. Patients aged 18 to 75 years diagnosed with anxiety and/or depression, consumers of psychoactive drugs in the three months previous to the realization of the study. We selected 376 patients by simple random sampling stratified by health center, making them a telephone survey. Age, sex, physical exercise realization, type and duration of exercise, diagnosis of anxiety and/or depression, exercise prescription, prescriber health personnel and use of psychotropic medication. 294 participants (78.19% of selected) with a mean age of 55.33 years (55.32±12.53 SD) and 78.2% were female. 60.9% were diagnosed with anxiety, 59.5% with depression and 20.4% both diagnoses. 62.9% used antidepressants, benzodiazepines 76.9% and 39.79% both treatments. 58.5% (95%CI: 52.70-64.31) performed exercise of which 44.77% did it 3-5 times/week. The mean duration was 1.24h each time (95%CI: 0.53-1.96). The physical exercise was prescribed to the 59.18% (95%CI: 53.39-64.97); 90.23% by the family physician, 63.22% primary care nurse, 17.24% psychiatrist and 5.17% psychologist. The adherence to the prescription was 59.77% (95%CI: 52.20-67.34). The percentage of anxious and/or depressed patients who practiced exercise is similar to the general population but should be higher. The exercise prescription by health personnel is insufficient. Copyright © 2014 Elsevier España, S.L.U. All rights reserved.

  19. Familial short fifth metacarpals and insulin resistance

    Energy Technology Data Exchange (ETDEWEB)

    Hyari, Muwafag; Hamamy, Hanan; Barham, Muries; Ajlouni, Kamel [National Center for Diabetes, Endocrinology and Genetics, P.O. Box 13165, Amman (Jordan); Al-Hadidy, Azmy [Jordan University Hospital, Department of Radiology, Amman (Jordan)

    2006-09-15

    Very few reports on the phenotype of short fifth metacarpals have been published in the medical literature. We report a Jordanian family in which three sisters aged 15, 13 and 8 years revealed bilateral shortening of the fifth fingers and radiological shortening of the fifth metacarpals. The father had unilateral short fifth metacarpal. The elder two sisters, their father as well as their brother and another sister manifested insulin resistance. Spherocytosis was diagnosed in one of the girls and her father. The parents are non-consanguineous. This constellation of findings has not been previously reported and could point to the presence of two disorders segregating in the family or to a novel syndrome with autosomal dominant inheritance and variable expressivity. (orig.)

  20. Acute parvovirus B19 infection in identical twins unmasking previously unidentified hereditary spherocytosis.

    Science.gov (United States)

    Forde, Donall G; Cope, Alison; Stone, Ben

    2014-07-29

    Identical Caucasian male twins, previously fit, presented 1 week apart with short histories of fever and lethargy. The twins were febrile at presentation with profound pancytopaenia and evidence of haemolysis. There was no rash or arthralgia. Both required multiple red cell transfusions. The twins had positive IgM serology for Epstein-Barr virus (EBV), cytomegalovirus (CMV) and parvovirus B19. EBV viral capsid antigen and Epstein-Barr nuclear antigen IgGs were also positive however, suggesting past EBV exposure. Parvovirus B19 DNA was detected from peripheral blood PCR; CMV and EBV DNA PCRs were negative. Convalescent serology demonstrated no evolution of the CMV serological response, that is no IgG to CMV developed which implies an initial non-specific polyclonal IgM response. The twins recovered fully over 7 days, the first with a course of prednisolone and the second spontaneously. They were diagnosed with hereditary spherocytosis on convalescent blood films. On further questioning, a family history of hereditary spherocytosis was eventually revealed. The twins' maternal grandmother was known to have the condition asymptomatically. Their mother had prior to this never been tested, but later bloods would reveal a compatible biochemical picture.

  1. Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole-exome sequencing.

    Science.gov (United States)

    Pengelly, R J; Upstill-Goddard, R; Arias, L; Martinez, J; Gibson, J; Knut, M; Collins, A L; Ennis, S; Collins, A; Briceno, I

    2015-11-01

    Individuals from three families ascertained in Bogota, Colombia, showing syndromic phenotypes, including cleft lip and/or palate, were exome-sequenced. In each case, sequencing revealed the underlying causal variation confirming or establishing diagnoses. The findings include very rare and novel variants providing insights into genotype and phenotype relationships. These include the molecular diagnosis of an individual with Nager syndrome and a family exhibiting an atypical incontinentia pigmenti phenotype with a missense mutation in IKBKG. IKBKG mutations are typically associated with preterm male death, but this variant is associated with survival for 8-15 days. The third family exhibits unusual phenotypic features and the proband received a provisional diagnosis of Pierre Robin sequence (PRS). Affected individuals share a novel deleterious mutation in IRF6. Mutations in IRF6 cause Van der Woude and popliteal pterygium syndrome and contribute to nonsyndromic cleft lip phenotypes but have not previously been associated with a PRS phenotype. Exome sequencing followed by in silico screening to identify candidate causal variant(s), and functional assay in some cases offers a powerful route to establishing molecular diagnoses. This approach is invaluable for conditions showing phenotypic and/or genetic heterogeneity including cleft lip and/or palate phenotypes where many underlying causal genes have not been identified. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  2. Long-Term Risk for Noncervical Anogenital Cancer in Women with Previously Diagnosed High-Grade Cervical Intraepithelial Neoplasia

    DEFF Research Database (Denmark)

    Sand, Freja Lærke; Munk, Christian; Jensen, Signe Marie

    2016-01-01

    Background: High-risk human papillomavirus (HPV) is essential for developing high-grade cervical intraepithelial neoplasia (CIN2 and CIN3) and has also been associated with noncervical anogenital cancers. However, limited knowledge exists about the long-term risk for anal, vulvar, and vaginal...... risks for subsequent anal, vulvar, and vaginal cancer than women with no such history. The relative risks were higher for CIN3 than CIN2.Noexcess risk was found for rectal cancer. Analyses in which time since first CIN3 was taken into account showed increased relative risks for anal [HR = 4.8; 95......% confidence interval (CI), 3.3-7.0], vulvar (HR = 3.2; 95% CI, 2.0-5.3), and vaginal (HR = 5.5; 95% CI, 2.4-12.3) cancers ≥25 years after CIN3 diagnosis. Conclusion: Women with a history of CIN2 or CIN3 have a long-term increased relative risk for developing anal, vulvar, and vaginal cancer due to an impaired...

  3. Outcome of prenatally diagnosed trisomy 6 mosaicism.

    Science.gov (United States)

    Wallerstein, Robert; Oh, Tracey; Durcan, Judy; Abdelhak, Yaakov; Clachko, Mark; Aviv, Hana

    2002-08-01

    We report the prenatal diagnosis of trisomy 6 mosaicism via amniocentesis, in which trisomy 6 cells were identified in three of five culture vessels with 33% (5/15) of colonies showing trisomic cells. The pregnancy was electively terminated and examination revealed minor abnormalities (shortening of the femurs, micrognathia, posterior malrotation of the ears, and bilateral camptomelia of the second digit of the hands and fifth digits of the feet). Cytogenetic analysis of the placenta showed trisomy 6 in 100% of 20 cells studied. Karyotype was 46,XX in 100 cells examined from fetal skin. There are relatively few prenatally diagnosed cases of mosaic trisomy 6 at amniocentesis. Confined placental mosaicism (CPM) has been postulated in other cases where follow-up cytogenetic studies were not available. The present case differs from those previously reported, as it appears to represent CPM of chromosome 6 with phenotypic effects to the fetus.

  4. Diagnosability issues in multiprocessor systems

    Energy Technology Data Exchange (ETDEWEB)

    Raghavan, V.

    1989-01-01

    In a seminal paper on fault diagnosis, Preparata, Metze, and Chien introduced a graph-theoretical model. Barsi, Grandoni, and Maestrini relaxed some constraints in this model to create a different model for fault diagnosis. Both these models have become the subject of intense research in the past two decades. A major open problem for these models is the question of sequential t-diagnosability-Given an arbitrary system of units and that there are no more than t faulty units in it, can we always identify at least one faulty unit The author shows that this problem is co-NP complete in both models. Recent research has shown that there are polynomial time algorithms to find the maximum number of faulty units a system can withstand and still identify all of them from a single collection of test results. He presents improved algorithms to solve this problem in both models. Using the letters n,m, and {tau} to denote the number of units, the number of tests, and the maximum number of faulty units respectively, our results can be summarized as follows: in the model of Barsi, Grandoni, and Maestrini, the algorithm has a time complexity of O(n{tau}{sup 2}/log{tau}) improving on the currently known O(n{tau}{sup 2}); in the model of Preparata, Metze, and Chien, the algorithm has a complexity of O(n{tau}{sup 2.5}) improving on the currently known O(mn{sup 1.5}). He also presents related results in the latter model, which suggest the possibility of reducing the complexity even further. Finally, he develops a general scheme for characterizing diagnosable systems. Using this scheme, he solves the open problem of characterizing t/s and sequentially t-diagnosable systems. The characterizations are then used to rederive some known results.

  5. How to diagnose acute appendicitis

    DEFF Research Database (Denmark)

    Mostbeck, Gerhard; Adam, E Jane; Nielsen, Michael Bachmann;

    2016-01-01

    Acute appendicitis (AA) is a common abdominal emergency with a lifetime prevalence of about 7 %. As the clinical diagnosis of AA remains a challenge to emergency physicians and surgeons, imaging modalities have gained major importance in the diagnostic work-up of patients with suspected AA in order...... appendicitis (AA). • Primary US for AA diagnosis will decrease ionizing radiation and cost. • Sensitivity of US to diagnose AA is lower than of CT/MRI. • Non-visualization of the appendix should lead to clinical reassessment. • Complementary MRI or CT may be performed if diagnosis remains unclear....

  6. [Family oriented nursing care].

    Science.gov (United States)

    Lima-Rodríguez, Joaquin Salvador; Lima-Serrano, Marta; Sáez-Bueno, Africa

    2009-01-01

    Nursing has experienced an important methodological development, in which it gives priority to the individual, although at a socioeconomic level a marked interest is seen in the health care of the family unit and the NANDA (North American Nursing Diagnosis Association), NIC (Nursing Interventions Classification) and NOC (Nursing Outcomes Classification) nursing guidelines, using diagnoses, criteria of results and interventions orientated towards this aim. We consider to the family as an opened system consisted of human elements, with a common history, which they form a functional unit been ruled by own procedure. In this paper we look at those aspects that must be taken into account in nursing assessment of families from a systemic perspective, including some tools for data collection and analysis of information. In addition, we identify specific areas of intervention. We believe that the family must be studied from a nursing care point of view with its own characteristics as opposed to those possessed individually by each of its members. We also believe that, when assessment is centred on the Henderson unaided activities study or the Gordon functional health patterns, they are not useful in assessing the family unit. This work offers an assessment method centred on the family unit, which helps to identify the nursing diagnoses applicable to it. Our proposal, which has been successfully used by nursing students over the last few years, hopes to contribute to quality clinical practice with a tool orientated towards the family.

  7. Distal DVT: worth diagnosing? Yes.

    Science.gov (United States)

    Schellong, S M

    2007-07-01

    Much of the argument for or against diagnosis of distal deep vain thrombosis (DVT) depends on the extra effort that has to be spent on it. This review presents the data on ultrasound of paired calf veins and calf muscle veins (distal ultrasound) in terms of protocols, feasibility, reliability and expected findings. In summary, provided there is adequate and anatomically sound training of sonographers, distal ultrasound is a valid, 4-minute procedure, which can easily be added to the examination of proximal veins. The second part of the review refers to the pathophysiology of ascending DVT, which is the most common type. Adequate patient care in terms of benefit, harm and cost includes a single non-invasive examination followed by risk adopted treatment allocation. This concept ideally should be valid for any type of DVT. The data extending this concept to distal DVT can only be derived from studies that look closely at this entity (i.e. in fact diagnose distal DVT). Even before these data are available, diagnosing distal DVT at least doubles the number of symptomatic patients in which signs and symptoms can be ascribed to a definitive diagnosis, which in itself is a benefit for patient care.

  8. Subsequent pregnancy outcome after previous foetal death

    NARCIS (Netherlands)

    Nijkamp, J. W.; Korteweg, F. J.; Holm, J. P.; Timmer, A.; Erwich, J. J. H. M.; van Pampus, M. G.

    2013-01-01

    Objective: A history of foetal death is a risk factor for complications and foetal death in subsequent pregnancies as most previous risk factors remain present and an underlying cause of death may recur. The purpose of this study was to evaluate subsequent pregnancy outcome after foetal death and to

  9. Endoscopic Third Ventriculostomy in Previously Shunted Children

    Directory of Open Access Journals (Sweden)

    Eva Brichtova

    2013-01-01

    Full Text Available Endoscopic third ventriculostomy (ETV is a routine and safe procedure for therapy of obstructive hydrocephalus. The aim of our study is to evaluate ETV success rate in therapy of obstructive hydrocephalus in pediatric patients formerly treated by ventriculoperitoneal (V-P shunt implantation. From 2001 till 2011, ETV was performed in 42 patients with former V-P drainage implantation. In all patients, the obstruction in aqueduct or outflow parts of the fourth ventricle was proved by MRI. During the surgery, V-P shunt was clipped and ETV was performed. In case of favourable clinical state and MRI functional stoma, the V-P shunt has been removed 3 months after ETV. These patients with V-P shunt possible removing were evaluated as successful. In our group of 42 patients we were successful in 29 patients (69%. There were two serious complications (4.7%—one patient died 2.5 years and one patient died 1 year after surgery in consequence of delayed ETV failure. ETV is the method of choice in obstructive hydrocephalus even in patients with former V-P shunt implantation. In case of acute or scheduled V-P shunt surgical revision, MRI is feasible, and if ventricular system obstruction is diagnosed, the hydrocephalus may be solved endoscopically.

  10. Work-Home Interference, Perceived Total Workload, and the Risk of Future Sickness Absence Due to Stress-Related Mental Diagnoses Among Women and Men: a Prospective Twin Study.

    Science.gov (United States)

    Svedberg, Pia; Mather, Lisa; Bergström, Gunnar; Lindfors, Petra; Blom, Victoria

    2017-06-21

    Work-home interference has been proposed as an important explanation for sickness absence (SA). Previous studies show mixed results, have not accounted for familial factors (genetics and shared everyday environment), or investigated diagnosis specific SA. The aim was to study whether work-home interference and perceived total workload predict SA due to stress-related mental diagnoses, or SA due to other mental diagnoses, among women and men, when adjusting for various confounders and familial factors. This study included 11,916 twins, 19-47 years (49% women). Data on work-to-home and home-to-work conflicts, perceived total workload, and relevant confounders were derived from a 2005 survey, and national register data on SA spells until 2013 were obtained. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated. Discordant twin pair design was applied to adjust for familial factors. Each one unit increase in work-to-home and home-to-work conflicts, and perceived total workload was associated with higher odds for SA due to stress-related mental diagnoses and to SA due to other mental diagnoses among women, when adjusting for sociodemographic factors (ORs 1.15-1.31). Including health or familial factors, no associations remained. For men, each one unit increase in work-to-home conflicts was associated with higher odds for SA due to stress-related diagnoses (ORs 1.23-1.35), independently of confounders. Work-to-home conflict was independently associated with future SA due to stress-related diagnoses among men only. Health- and work-related factors seem to be important confounders when researching work-home interference, perceived total workload, and SA. Not including such confounders involves risking drawing incorrect conclusions. Further studies are needed to confirm sex differences and whether genetic factors are important for the associations studied.

  11. Induced vaginal birth after previous caesarean section

    OpenAIRE

    Akylbek Tussupkaliyev; Andrey Gayday; Bibigul Karimsakova; Saule Bermagambetova; Lunara Uteniyazova; Guldana Iztleuova; Gulkhanym Kusherbayeva; Meruyert Konakbayeva; Assylzada Merekeyeva; Zamira Imangaliyeva

    2016-01-01

    Introduction The rate of operative birth by Caesarean section is constantly rising. In Kazakhstan, it reaches 27 per cent. Research data confirm that the percentage of successful vaginal births after previous Caesarean section is 50–70 per cent. How safe the induction of vaginal birth after Caesarean (VBAC) remains unclear. Methodology The studied techniques of labour induction were amniotomy of the foetal bladder with the vulsellum ramus, intravaginal administra...

  12. Paraphilic diagnoses in DSM-5.

    Science.gov (United States)

    Krueger, Richard B; Kaplan, Meg S

    2012-01-01

    The DSM-5 has been under revision since 1999 and is scheduled for publication in 2013. This article will review the major proposed modifications of the Paraphilias. The information reviewed was obtained from PubMed, PsychInfo, the DSM-5.org website and other sources and reviewed. Pedohebephilia, Hypersexual Disorder and Paraphilic Coercive Disorder are new proposed diagnoses. Paraphilias have been assigned their own chapter in DSM- 5 and a distinction has been made between Paraphilias and Paraphilic Disorders. Victim numbers have been included in diagnosis of paraphilias that involve victims and remission and severity measures have been added to all paraphilias. Transvestic Disorder can apply to males or females, Fetishistic Disorder now includes partialism, and Sexual Masochism Disorder has Asphyxiophilia as a specifier. This study is based on a literature review and influenced by the knowledge and biases of the authors. The Paraphilic Disorders Section of the DSM-5 represents a significant departure from DSMIV-TR.

  13. Diagnosing young onset dementia can be challenging.

    Science.gov (United States)

    Ahmed, Samrah; Baker, Ian; Butler, Christopher R

    2016-05-01

    Although the risk of developing dementia increases with age, onset can be as early as the third or fourth decade of life. Genetic influences play a more important role in younger than in older people with dementia, so young onset dementia may cluster in families. Diagnosing young onset dementia is challenging. The range of possible presenting features is broad, encompassing behavioural, cognitive, psychiatric and neurological domains, and symptoms are often subtle initially. Frequently the complaints are misattributed to stress or depression, and the patient is falsely reassured that they are too young to have dementia. The most common causes of young onset dementia are early onset forms of adult neurodegenerative conditions and alcohol. Vascular dementia is the second most common cause of young onset dementia after Alzheimer's disease. Conventional vascular risk factors may be absent and diagnosis relies on imaging evidence of cerebrovascular disease. Obtaining a detailed history remains the most important part of the workup and usually requires corroboration by a third party. Undertaking a basic neurological examination is also important. Those with suspected young onset dementia should be referred to a neurology-led cognitive disorders clinic where available as the differenti diagnosis is considerably broader tha in older adults and requires specialist investigation.

  14. Dissolved families

    DEFF Research Database (Denmark)

    Christoffersen, Mogens

    The situation in the family preceding a family separation is studied here, to identify risk factors for family dissolution. Information registers covering prospective statistics about health aspects, demographic variables, family violence, self-destructive behaviour, unemployment, and the spousal...

  15. Dissolved families

    DEFF Research Database (Denmark)

    Christoffersen, Mogens

    The situation in the family preceding a family separation is studied here, to identify risk factors for family dissolution. Information registers covering prospective statistics about health aspects, demographic variables, family violence, self-destructive behaviour, unemployment, and the spousal...

  16. Family Life

    Science.gov (United States)

    ... With Family and Friends > Family Life Request Permissions Family Life Approved by the Cancer.Net Editorial Board , ... your outlook on the future. Friends and adult family members The effects of cancer on your relationships ...

  17. Fabry Disease in Families With Hypertrophic Cardiomyopathy

    DEFF Research Database (Denmark)

    Adalsteinsdottir, Berglind; Palsson, Runolfur; Desnick, Robert J

    2017-01-01

    BACKGROUND: The screening of Icelandic patients clinically diagnosed with hypertrophic cardiomyopathy resulted in identification of 8 individuals from 2 families with X-linked Fabry disease (FD) caused by GLA(α-galactosidase A gene) mutations encoding p.D322E (family A) or p.I232T (family B...

  18. Cataract surgery in previously vitrectomized eyes.

    Science.gov (United States)

    Akinci, A; Batman, C; Zilelioglu, O

    2008-05-01

    To evaluate the results of extracapsular cataract extraction (ECCE) and phacoemulsification (PHACO) performed in previously vitrectomized eyes. In this retrospective study, 56 vitrectomized eyes that had ECCE and 60 vitrectomized eyes that had PHACO were included in the study group while 65 eyes that had PHACO in the control group. The evaluated parameters were the incidence of intra-operative and postoperative complications (IPC) and visual outcomes. Chi-squared, independent samples and paired samples tests were used for comparing the results. Deep anterior chamber (AC) was significantly more common in the PHACO group of vitrectomized eyes (PGVE) and observed in eyes that had undergone extensive vitreous removal (p ECCE group and the PGVE (p > 0.05). Some of the intra-operative conditions such as posterior synechiae, primary posterior capsular opacification (PCO) and postoperative complications such as retinal detachment (RD), PCO were significantly more common in vitrectomized eyes than the controls (p ECCE group and the PGVE (p > 0.05). Deep AC is more common in eyes with extensive vitreous removal during PHACO than ECCE. Decreasing the bottle height is advised in this case. Except for this, the results of ECCE and PHACO are similar in previously vitrectomized eyes. Posterior synechiaes, primary and postoperative PCO and RD are more common in vitrectomized eyes than the controls.

  19. Sigmoid-vaginal fistula during bevacizumab treatment diagnosed by fistulography.

    Science.gov (United States)

    Hayashi, C; Takada, S; Kasuga, A; Shinya, K; Watanabe, M; Kano, H; Takayama, T

    2016-12-01

    There have been several reports describing rectovaginal fistula development after bevacizumab treatment, and these fistulas were diagnosed by CT scan or colonoscopy. We report a case of sigmoid-vaginal fistula diagnosed by fistulography. The case is a 53-year-old woman who was treated for chronic myelogenous leukaemia and gynaecological cancers 8 years previously. At 52 years of age, she was diagnosed with colon cancer and had a partial colectomy performed. One year after surgery, colon cancer recurred, and she was treated with anticancer agents, including bevacizumab. During chemotherapy, she complained of a foul smelling discharge from the vagina. Fistulography revealed a sigmoid-vaginal fistula. This is the first report of vaginal fistulography performed on a patient who was treated with bevacizumab. Fistulography may be useful for detecting sigmoid-vaginal fistula. © 2016 John Wiley & Sons Ltd.

  20. Common Diagnoses in the NICU

    Science.gov (United States)

    ... and is doing well, the doctor usually will let the baby go home and have the parents follow up with the child's doctor. previous continue Apnea What is it? Although it's perfectly normal for everyone to have occasional pauses in breathing, newborns who don't take at least one breath in 20 seconds ...

  1. Books average previous decade of economic misery.

    Directory of Open Access Journals (Sweden)

    R Alexander Bentley

    Full Text Available For the 20(th century since the Depression, we find a strong correlation between a 'literary misery index' derived from English language books and a moving average of the previous decade of the annual U.S. economic misery index, which is the sum of inflation and unemployment rates. We find a peak in the goodness of fit at 11 years for the moving average. The fit between the two misery indices holds when using different techniques to measure the literary misery index, and this fit is significantly better than other possible correlations with different emotion indices. To check the robustness of the results, we also analysed books written in German language and obtained very similar correlations with the German economic misery index. The results suggest that millions of books published every year average the authors' shared economic experiences over the past decade.

  2. Obinutuzumab for previously untreated chronic lymphocytic leukemia.

    Science.gov (United States)

    Abraham, Jame; Stegner, Mark

    2014-04-01

    Obinutuzumab was approved by the Food and Drug Administration in late 2013 for use in combination with chlorambucil for the treatment of patients with previously untreated chronic lymphocytic leukemia (CLL). The approval was based on results of an open-label phase 3 trial that showed improved progression-free survival (PFS) with the combination of obinutuzumab plus chlorambucil compared with chlorambucil alone. Obinutuzumab is a monoclonal antibody that targets CD20 antigen expressed on the surface of pre B- and mature B-lymphocytes. After binding to CD20, obinutuzumab mediates B-cell lysis by engaging immune effector cells, directly activating intracellular death signaling pathways, and activating the complement cascade. Immune effector cell activities include antibody-dependent cellular cytotoxicity and antibody-dependent cellular phagocytosis.

  3. Can previous learning alter future plasticity mechanisms?

    Science.gov (United States)

    Crestani, Ana Paula; Quillfeldt, Jorge Alberto

    2016-02-01

    The dynamic processes related to mnemonic plasticity have been extensively researched in the last decades. More recently, studies have attracted attention because they show an unusual plasticity mechanism that is independent of the receptor most usually related to first-time learning--that is, memory acquisition-the NMDA receptor. An interesting feature of this type of learning is that a previous experience may cause modifications in the plasticity mechanism of a subsequent learning, suggesting that prior experience in a very similar task triggers a memory acquisition process that does not depend on NMDARs. The intracellular molecular cascades necessary to assist the learning process seem to depend on the activation of hippocampal CP-AMPARs. Moreover, most of these studies were performed on hippocampus-dependent tasks, even though other brain areas, such as the basolateral amygdala, also display NMDAR-independent learning.

  4. Books average previous decade of economic misery.

    Science.gov (United States)

    Bentley, R Alexander; Acerbi, Alberto; Ormerod, Paul; Lampos, Vasileios

    2014-01-01

    For the 20(th) century since the Depression, we find a strong correlation between a 'literary misery index' derived from English language books and a moving average of the previous decade of the annual U.S. economic misery index, which is the sum of inflation and unemployment rates. We find a peak in the goodness of fit at 11 years for the moving average. The fit between the two misery indices holds when using different techniques to measure the literary misery index, and this fit is significantly better than other possible correlations with different emotion indices. To check the robustness of the results, we also analysed books written in German language and obtained very similar correlations with the German economic misery index. The results suggest that millions of books published every year average the authors' shared economic experiences over the past decade.

  5. Investigating the Impacts of Previous and Current Learning Experiences on Student Teachers' Teaching Experiences

    Science.gov (United States)

    Ögeyik, Muhlise Cosgun

    2016-01-01

    This study investigated the impacts of the previous and current learning experiences of the student teachers on their microteaching practices. The study pursued threefold research goals: to diagnose the microteaching stance, to treat it, and to explore and evaluate the progress. The participants were 24 undergraduate third year student teachers…

  6. Induced vaginal birth after previous caesarean section

    Directory of Open Access Journals (Sweden)

    Akylbek Tussupkaliyev

    2016-11-01

    Full Text Available Introduction The rate of operative birth by Caesarean section is constantly rising. In Kazakhstan, it reaches 27 per cent. Research data confirm that the percentage of successful vaginal births after previous Caesarean section is 50–70 per cent. How safe the induction of vaginal birth after Caesarean (VBAC remains unclear. Methodology The studied techniques of labour induction were amniotomy of the foetal bladder with the vulsellum ramus, intravaginal administration of E1 prostaglandin (Misoprostol, and intravenous infusion of Oxytocin-Richter. The assessment of rediness of parturient canals was conducted by Bishop’s score; the labour course was assessed by a partogram. The effectiveness of labour induction techniques was assessed by the number of administered doses, the time of onset of regular labour, the course of labour and the postpartum period and the presence of complications, and the course of the early neonatal period, which implied the assessment of the child’s condition, described in the newborn development record. The foetus was assessed by medical ultrasound and antenatal and intranatal cardiotocography (CTG. Obtained results were analysed with SAS statistical processing software. Results The overall percentage of successful births with intravaginal administration of Misoprostol was 93 per cent (83 of cases. This percentage was higher than in the amniotomy group (relative risk (RR 11.7 and was similar to the oxytocin group (RR 0.83. Amniotomy was effective in 54 per cent (39 of cases, when it induced regular labour. Intravenous oxytocin infusion was effective in 94 per cent (89 of cases. This percentage was higher than that with amniotomy (RR 12.5. Conclusions The success of vaginal delivery after previous Caesarean section can be achieved in almost 70 per cent of cases. At that, labour induction does not decrease this indicator and remains within population boundaries.

  7. [Left pulmonary agenesis diagnosed late].

    Science.gov (United States)

    Deleanu, Oana; Pătraşcu, Natalia; Nebunoiu, Ana-Maria; Vintilă, V; Ulmeanu, Ruxandra; Mihălţan, F D

    2010-01-01

    We present the case of a 51 years old female-patient, with severe dextroscoliosis, having like unique symptom progressive dyspnea. The blood samples reveals polycythemia, the radiological exam shows the opacification of 2/3 of the left thorax, the absence of the lung structure in the other 1/3, the deviation of the mediastinum, and dextroscoliosis; the computed tomography reveals the absence of the left lung artery and the left airways, compensatory hyperinflation of the right lung and dilatation of the trunk and right pulmonary artery; the bronchoscopy does not visualize the carina or the left main bronchus, typical for pulmonary agenesis. Echocardiography confirmed the absence of left pulmonary artery and shows mild pulmonary hypertension (systolic pressure in the pulmonary artery of 33 mmHg) with dilatation of the right cavities, but good cinetics. We face a case of pulmonary agenesis lately diagnosed, with modest functional cardiologic implications, limited therapeutic options and good survival, justified by the late appearance of the pulmonary hypertension of low severity and without worsening in time.

  8. Psychiatric diagnoses are not mental processes: Wittgenstein on conceptual confusion.

    Science.gov (United States)

    Rosenman, Stephen; Nasti, Julian

    2012-11-01

    Empirical explanation and treatment repeatedly fail for psychiatric diagnoses. Diagnosis is mired in conceptual confusion that is illuminated by Ludwig Wittgenstein's later critique of philosophy (Philosophical Investigations). This paper examines conceptual confusions in the foundation of psychiatric diagnosis from some of Wittgenstein's important critical viewpoints. Diagnostic terms are words whose meanings are given by usages not definitions. Diagnoses, by Wittgenstein's analogy with 'games', have various and evolving usages that are connected by family relationships, and no essence or core phenomenon connects them. Their usages will change according to the demands and contexts in which they are employed. Diagnoses, like many psychological terms, such as 'reading' or 'understanding', are concepts that refer not to fixed behavioural or mental states but to complex apprehensions of the relationship of a variety of behavioural phenomena with the world. A diagnosis is a sort of concept that cannot be located in or explained by a mental process. A diagnosis is an exercise in language and its usage changes according to the context and the needs it addresses. Diagnoses have important uses but they are irreducibly heterogeneous and cannot be identified with or connected to particular mental processes or even with a unity of phenomena that can be addressed empirically. This makes understandable not only the repeated failure of empirical science to replicate or illuminate genetic, neurophysiologic, psychic or social processes underlying diagnoses but also the emptiness of a succession of explanatory theories and treatment effects that cannot be repeated or stubbornly regress to the mean. Attempts to fix the meanings of diagnoses to allow empirical explanation will and should fail as there is no foundation on which a fixed meaning can be built and it can only be done at the cost of the relevance and usefulness of diagnosis.

  9. X-linked agammaglobulinemia diagnosed late in life: case report and review of the literature

    Directory of Open Access Journals (Sweden)

    Krishnaswamy Guha

    2008-06-01

    Full Text Available Abstract Background Common variable immune deficiency (CVID, one of the most common primary immunodeficiency diseases presents in adults, whereas X-linked agammaglobulinemia (XLA, an inherited humoral immunodeficiency, is usually diagnosed early in life after maternal Igs have waned. However, there have been several reports in the world literature in which individuals have either had a delay in onset of symptoms or have been misdiagnosed with CVID and then later found to have mutations in Bruton's tyrosine kinase (BTK yielding a reclassification as adult-onset variants of XLA. The typical finding of absent B cells should suggest XLA rather than CVID and may be a sensitive test to detect this condition, leading to the more specific test (Btk mutational analysis. Further confirmation may be by mutational analyses. Methods The records of 2 patients were reviewed and appropriate clinical data collected. BTK mutational analysis was carried out to investigate the suspicion of adult-presentation of XLA. A review of the world literature on delayed diagnosis of XLA and mild or "leaky" phenotype was performed. Results 2 patients previously diagnosed with CVID associated with virtual absence of CD19+ B cells were reclassified as having a delayed diagnosis and adult-presentation of XLA. Patient 1, a 64 yr old male with recurrent sinobronchial infections had a low level of serum IgG of 360 mg/dl (normal 736–1900, IgA Patient 2, a 46 yr old male with recurrent sinopulmonary infections had low IgG of 260 mg/dl, low IgA Conclusion These two cases represent an unusual adult-presentation of XLA, a humoral immunodeficiency usually diagnosed in childhood and the need to further investigate a suspicion of XLA in adult males with CVID particularly those associated with low to absent CD19+ B cells. A diagnosis of XLA can have significant implications including family counseling, detecting female carriers, and early intervention and treatment of affected male

  10. Inside the Family Firm

    DEFF Research Database (Denmark)

    Bennedsen, Morten; Nielsen, Kasper; Pérez-González, Francisco

    2005-01-01

    This paper uses a unique dataset from Denmark to investigate (1) the role of family characteristics in corporate decision making, and (2) the consequences of these decisions on firm performance. We focus on the decision to appoint either a family or an external chief executive officer (CEO). We...... show that a departing CEO's family characteristics have a strong predictive power in explaining CEO succession decisions: family CEOs are more frequently selected the larger the size of the family, the higher the ratio of male children and when the departing CEOs had only had one spouse. We...... then analyze the impact of family successions on performance. We overcome endogeneity and omitted variables problems of previous papers in the literature by using the gender of a departing CEO's first-born child as an instrumental variable (IV) for family successions. This is a plausible IV as male first...

  11. Inside the Family Firm

    DEFF Research Database (Denmark)

    Bennedsen, Morten; Nielsen, Kasper; Pérez-González, Francisco

    2005-01-01

    This paper uses a unique dataset from Denmark to investigate (1) the role of family characteristics in corporate decision making, and (2) the consequences of these decisions on firm performance. We focus on the decision to appoint either a family or an external chief executive officer (CEO). We...... show that a departing CEO's family characteristics have a strong predictive power in explaining CEO succession decisions: family CEOs are more frequently selected the larger the size of the family, the higher the ratio of male children and when the departing CEOs had only had one spouse. We...... then analyze the impact of family successions on performance. We overcome endogeneity and omitted variables problems of previous papers in the literature by using the gender of a departing CEO's first-born child as an instrumental variable (IV) for family successions. This is a plausible IV as male first...

  12. Previous gastric bypass surgery complicating total thyroidectomy.

    Science.gov (United States)

    Alfonso, Bianca; Jacobson, Adam S; Alon, Eran E; Via, Michael A

    2015-03-01

    Hypocalcemia is a well-known complication of total thyroidectomy. Patients who have previously undergone gastric bypass surgery may be at increased risk of hypocalcemia due to gastrointestinal malabsorption, secondary hyperparathyroidism, and an underlying vitamin D deficiency. We present the case of a 58-year-old woman who underwent a total thyroidectomy for the follicular variant of papillary thyroid carcinoma. Her history included Roux-en-Y gastric bypass surgery. Following the thyroid surgery, she developed postoperative hypocalcemia that required large doses of oral calcium carbonate (7.5 g/day), oral calcitriol (up to 4 μg/day), intravenous calcium gluconate (2.0 g/day), calcium citrate (2.0 g/day), and ergocalciferol (50,000 IU/day). Her serum calcium levels remained normal on this regimen after hospital discharge despite persistent hypoparathyroidism. Bariatric surgery patients who undergo thyroid surgery require aggressive supplementation to maintain normal serum calcium levels. Preoperative supplementation with calcium and vitamin D is strongly recommended.

  13. Surgery of intracranial aneurysms previously treated endovascularly.

    Science.gov (United States)

    Tirakotai, Wuttipong; Sure, Ulrich; Yin, Yuhua; Benes, Ludwig; Schulte, Dirk Michael; Bien, Siegfried; Bertalanffy, Helmut

    2007-11-01

    To perform a retrospective study on the patients who underwent aneurysmal surgery following endovascular treatment. We performed a retrospective study on eight patients who underwent aneurysmal surgery following endovascular treatment (-attempts) with gugliemi detachable coils (GDCs). The indications for surgery, surgical techniques and clinical outcomes were analyzed. The indications for surgical treatment after GDC coiling of aneurysm were classified into three groups. First group: surgery of incompletely coiled aneurysms (n=4). Second group: surgery of mass effect on the neural structures due to coil compaction or rebleeding (n=2). Third group: surgery of vascular complications after endovascular procedure due to parent artery occlusion or thrombus propagation from aneurysm (n=2). Aneurysm obliterations could be performed in all cases confirmed by postoperative angiography. Six patients had an excellent outcome and returned to their profession. Patient's visual acuity was improved. One individual experienced right hemiparesis (grade IV/V) and hemihypesthesia. Microsurgical clipping is rarely necessary for previously coiled aneurysms. Surgical treatment is uncommonly required when an acute complication arises during endovascular treatment, or when there is a dynamic change of a residual aneurysm configuration over time that is considered to be insecure.

  14. [Electronic cigarettes - effects on health. Previous reports].

    Science.gov (United States)

    Napierała, Marta; Kulza, Maksymilian; Wachowiak, Anna; Jabłecka, Katarzyna; Florek, Ewa

    2014-01-01

    Currently very popular in the market of tobacco products have gained electronic cigarettes (ang. E-cigarettes). These products are considered to be potentially less harmful in compared to traditional tobacco products. However, current reports indicate that the statements of the producers regarding to the composition of the e- liquids not always are sufficient, and consumers often do not have reliable information on the quality of the product used by them. This paper contain a review of previous reports on the composition of e-cigarettes and their impact on health. Most of the observed health effects was related to symptoms of the respiratory tract, mouth, throat, neurological complications and sensory organs. Particularly hazardous effects of the e-cigarettes were: pneumonia, congestive heart failure, confusion, convulsions, hypotension, aspiration pneumonia, face second-degree burns, blindness, chest pain and rapid heartbeat. In the literature there is no information relating to passive exposure by the aerosols released during e-cigarette smoking. Furthermore, the information regarding to the use of these products in the long term are not also available.

  15. Novel approaches in diagnosing tuberculosis

    Science.gov (United States)

    Kolk, Arend H. J.; Dang, Ngoc A.; Kuijper, Sjoukje; Gibson, Tim; Anthony, Richard; Claassens, Mareli M.; Kaal, Erwin; Janssen, Hans-Gerd

    2011-06-01

    The WHO declared tuberculosis (TB) a global emergency. An estimated 8-9 million new cases occur each year with 2-3 million deaths. Currently, TB is diagnosed mostly by chest-X ray and staining of the mycobacteria in sputum with a detection limit of 1x104 bacteria /ml. There is an urgent need for better diagnostic tools for TB especially for developing countries. We have validated the electronic nose from TD Technology for the detection of Mycobacterium tuberculosis by headspace analysis of 284 sputum samples from TB patients. We used linear discriminant function analysis resulting in a sensitivity of 75% a specificity of 67% and an accuracy of 69%. Further research is still required to improve the results by choosing more selective sensors and sampling techniques. We used a fast gas chromatography- mass spectrometry method (GC-MS). The automated procedure is based on the injection of sputum samples which are methylated inside the GC injector using thermally assisted hydrolysis and methylation (THM-GC-MS). Hexacosanoic acid in combination with tuberculostearic acid was found to be specific for the presence of M. tuberculosis. The detection limit was similar to microscopy. We found no false positives, all microscopy and culture positive samples were also found positive with the THM-GC-MS method. The detection of ribosomal RNA from the infecting organism offers great potential since rRNA molecules outnumber chromosomal DNA by a factor 1000. It thus may possible to detect the organism without amplification of the nucleic acids (NA). We used a capture and a tagged detector probe for the direct detection of M. tuberculosis in sputum. So far the detection limit is 1x106 bacteria / ml. Currently we are testing a Lab-On-A-Chip Interferometer detection system.

  16. Are Pediatricians Diagnosing Obese Children?

    Science.gov (United States)

    Thomas, Katharine; Urrego, Fernando

    2017-01-01

    Background: Pediatric obesity is the most prevalent nutritional disorder in American children. The detrimental social, psychological, and physiological effects of obesity call for pediatricians to address this health concern. The literature demonstrates that clinicians are underreporting the diagnosis of obesity in the pediatric setting. The primary purpose of this study was to determine if pediatricians at one pediatrics clinic in the Ochsner Health System are documenting the presence of an overweight or obese body mass index (BMI) as a diagnosis in the medical record. A secondary purpose of this study was to determine the demographics of all pediatric patients in the Ochsner Health System to be used for program development. Methods: A retrospective medical record review was conducted. Records from April 1, 2012 to April 1, 2016, were reviewed for the presence of the diagnosis of BMI classified as obese or overweight. Results: We analyzed a total of 175,066 records in this study. Of these records, 1.32% documented a diagnosis of obesity, and 0.5% documented a BMI score indicating overweight. The percentages of patient visits that met the Centers for Disease Control and Prevention criteria to be classified as obese or overweight were 28.66% and 30.41%, respectively. The majority of our pediatric patients were male (51.76%), white (43.31%), and 5-12 years old (43.80%). Conclusion: This study demonstrates that pediatricians at Ochsner Health Center for Children are not diagnosing patients who have unhealthy BMI scores as overweight or obese. Interventions are needed to increase the identification of children who may benefit from receiving resources that encourage a healthy lifestyle and optimal weight maintenance. PMID:28331453

  17. Diagnósticos de enfermagem do Padrão Mover em idosos de uma comunidade atendida pelo Programa Saúde da Família Diagnósticos de enfermería del Patrón Movimiento en ancianos asistidos por el Programa Salud de la Familia Nursing diagnoses of the Pattern of Mobility in the elderly attended by the Family Health Program

    Directory of Open Access Journals (Sweden)

    Lorena Aparecida de Oliveira Araújo

    2005-03-01

    la edad. Percibimos que existen características específicas de la muestra que sugieren la necesidad de que cada equipo del Programa Salud de la Familia evalúe su respectiva clientela a fin de orientar intervenciones precoces y apropiadas.With aging there is an increase of the occurrence of incapacity and risk of loss of mobility in the elderly. Our objective was to study the occurrence of 22 Nursing Diagnoses of the Moving Pattern in elderly people in relation to frequency, sex and age. It is an exploratory study that involved 75 elders assisted by a team of the Family Health Program in Goiânia, State of Goiás. We found that 97.3% of the sample presented one or more diagnoses. The most frequent diagnoses were Impaired Physical Mobility (90.7%, Pattern of the Disturbed Sleep (89.4% and Inefficient Health Upkeep (75.9%. We did not find statistically significant difference in the frequency of diagnoses among men and women. We identified statistically significant difference between the frequency of diagnoses and age. We noticed that there are specific characteristics of the sample that suggest the need for each team of Health Family Program to evaluate its clientele in order to direct early appropriate interventions.

  18. New Sensing Application to Diagnose Power Semiconductor Aging in Actuator Power Drive Systems

    Data.gov (United States)

    National Aeronautics and Space Administration — This paper presents a new sensing application to diagnose power semiconductor aging in power drive systems. It has been shown previously that device parasitic...

  19. Primary amebic meningoencephalitis diagnosed in the emergency department.

    Science.gov (United States)

    McCool, J A; Spudis, E V; McLean, W; White, J; Visvesvara, G S

    1983-01-01

    Reported is a case of primary amebic meningoencephalitis diagnosed in the emergency department. The patient, a previously healthy teenager, developed Naegleria meningoencephalitis after swimming in a freshwater public pool. The Naegleria caused acute fulminating infection culminating in the death of the patient 36 hours after admission. Results of a spinal tap, together with the history of swimming in warm fresh water, led to the emergency department diagnosis.

  20. PREANALITIC AND INTERPRETATION BLOOD GLUCOSE FOR DIAGNOSE DIABETIC MELITUS

    Directory of Open Access Journals (Sweden)

    Ida Bagus Wayan Kardika

    2013-10-01

    Full Text Available Normal 0 false false false EN-US X-NONE X-NONE Diabetes mellitus (DM is a metabolic disorder disease which has been characterised by chronic hyperglycemia as well as abnormalities in the metabolism of carbohydrates, fats and proteins caused by abnormalities of insulin secretion, insulin resistance or both. The Diagnoses of diabetes mellitus in addition based on the clinical aspects of which include anamnesis, physical examination and diagnoses is required in the form of investigations the laboratory examination. The simplest laboratory examination is the examination of blood sugar. The stages of preanalitic and the interpretation of results examination of the blood sugar is worth noting in order to obtain meaningful results so that a diagnosis of diabetes mellitus can be enforced and for monitoring treatment outcomes. /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Table Normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-priority:99; mso-style-qformat:yes; mso-style-parent:""; mso-padding-alt:0in 5.4pt 0in 5.4pt; mso-para-margin:0in; mso-para-margin-bottom:.0001pt; mso-pagination:widow-orphan; font-size:11.0pt; font-family:"Calibri","sans-serif"; mso-ascii-font-family:Calibri; mso-ascii-theme-font:minor-latin; mso-fareast-font-family:"Times New Roman"; mso-fareast-theme-font:minor-fareast; mso-hansi-font-family:Calibri; mso-hansi-theme-font:minor-latin; mso-bidi-font-family:"Times New Roman"; mso-bidi-theme-font:minor-bidi;}

  1. High-Grade Leiomyosarcoma Arising in a Previously Replanted Limb

    Directory of Open Access Journals (Sweden)

    Tiffany J. Pan

    2015-01-01

    Full Text Available Sarcoma development has been associated with genetics, irradiation, viral infections, and immunodeficiency. Reports of sarcomas arising in the setting of prior trauma, as in burn scars or fracture sites, are rare. We report a case of a leiomyosarcoma arising in an arm that had previously been replanted at the level of the elbow joint following traumatic amputation when the patient was eight years old. He presented twenty-four years later with a 10.8 cm mass in the replanted arm located on the volar forearm. The tumor was completely resected and pathology examination showed a high-grade, subfascial spindle cell sarcoma diagnosed as a grade 3 leiomyosarcoma with stage pT2bNxMx. The patient underwent treatment with brachytherapy, reconstruction with a free flap, and subsequently chemotherapy. To the best of our knowledge, this is the first case report of leiomyosarcoma developing in a replanted extremity. Development of leiomyosarcoma in this case could be related to revascularization, scar formation, or chronic injury after replantation. The patient remains healthy without signs of recurrence at three-year follow-up.

  2. Family Therapy

    Science.gov (United States)

    ... may be credentialed by the American Association for Marriage and Family Therapy (AAMFT). Family therapy is often short term. ... challenging situations in a more effective way. References Marriage and family therapists: The friendly mental health professionals. American Association ...

  3. Familial hypertriglyceridemia

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/000397.htm Familial hypertriglyceridemia To use the sharing features on this page, please enable JavaScript. Familial hypertriglyceridemia is a common disorder passed down through families. ...

  4. Family Meals

    Science.gov (United States)

    ... Teaching Kids to Be Smart About Social Media Family Meals KidsHealth > For Parents > Family Meals Print A ... even more important as kids get older. Making Family Meals Happen It can be a big challenge ...

  5. Family Arguments

    Science.gov (United States)

    ... Spread the Word Shop AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care ... Life Listen Español Text Size Email Print Share Family Arguments Page Content Article Body We seem to ...

  6. Family History

    Science.gov (United States)

    Your family history includes health information about you and your close relatives. Families have many factors in common, including their genes, ... as heart disease, stroke, and cancer. Having a family member with a disease raises your risk, but ...

  7. Understanding family member suicide narratives by investigating family history.

    Science.gov (United States)

    Ratnarajah, Dorothy; Maple, Myfanwy; Minichiello, Victor

    2014-01-01

    The complex family environments in which a suicide death had previously occurred were explored in a qualitative study of narratives of suicide-bereaved participants. The participants searched for reasons why the suicide occurred in their family. Family patterning stories and the context of the environment in which the suicide death occurred provided an additional depth of meaning into the relational aspects of the family. Fractured families emerged as an important theme. Shared in the narratives were stories of conditions within the family that may have contributed to vulnerability towards persistent negative feelings about their lives, their family, and their future. The study also identifies the strengths of family culture that led to resilience in the suicide bereaved. These stories highlight the importance of support for those bereaved by the suicide of a close family member and the issues that places people in vulnerable situations that perhaps may explain the increased risk of suicide for those bereaved family members.

  8. Recurrence of Hyperparathyroid Hypercalcemia in a Patient With the HRPT-2 Mutation and a Previous Parathyroid Carcinoma in Hyperparathyroidism-Jaw Tumor Syndrome

    Directory of Open Access Journals (Sweden)

    Mele

    2016-04-01

    Full Text Available Introduction Cancer in the parathyroid gland is rare, but parathyroid cancer is occasionally seen in relation to genetic abnormalities. Due to a limited amount of evidence, the optimal handling of these cases is not clear. Furthermore, the presence of a malignant parathyroid tumor is rarely known at the time of the initial operation; therefore, re-operations are often necessary. The aim of this study was to present the case of a patient with a previously diagnosed jaw tumor and parathyroid carcinoma that presents as a recurrence of hyperparathyroid hypercalcemia. Case Presentation A 41-year-old patient who was already diagnosed with a parathyroid carcinoma and a jaw tumor caused by a CDC73 mutation, presented with biochemical evidence of increasing parathyroid hormone (PTH and calcium levels after a previous total parathyroidectomy. The patient’s ionized calcium increased to 1.55 mmol/L and PTH increased to 16.0 pmol/L. A previous genetic analysis revealed a mutation in the CDC73 gene. There was no family history of hyperparathyroidism. We performed a sestamibi scintigraphy and an 11-C methionine (MET positron emission tomography (PET scan that showed a recurrence on the left side of the trachea. The patient underwent a third neck operation for the removal of a tumor on the left side of the trachea. The pathology report revealed that the tumor was a lymph node metastasis from the previous parathyroid carcinoma. The patient is currently enrolled in our follow-up regime. Hyperparathyroidism-jaw tumor (HPT-JT syndrome is a rare autosomal dominant disorder characterized by a parathyroid adenoma or carcinoma, fibro-osseous lesions (ossifying fibroma of the mandible and maxilla, and renal cysts and tumors. This autosomal dominant familial cancer syndrome has been reported with a variable and incomplete penetrance, and up to 10% of gene carriers do not show any clinical manifestations. Here we present a patient’s case and discuss the literature

  9. From experience: applying the risk diagnosing methodology

    NARCIS (Netherlands)

    Keizer, Jimme A.; Halman, Johannes I.M.; Song, Michael

    2002-01-01

    No risk, no reward. Companies must take risks to launch new products speedily and successfully. The ability to diagnose and manage risks is increasingly considered of vital importance in high-risk innovation. This article presents the Risk Diagnosing Methodology (RDM), which aims to identify and

  10. De dokter en de diagnose-verzamelaar

    NARCIS (Netherlands)

    Geersing, Geert-Jan

    2015-01-01

    In the course of the medical curriculum, medical students are trained to recognise diagnoses. They classify these in their minds, together with detailed information on laboratory and imaging tests, as collections of diagnoses. The downside of this could be overdiagnosis. This paper describes some of

  11. From experience: applying the risk diagnosing methodology

    NARCIS (Netherlands)

    Keizer, Jimme A.; Halman, Johannes I.M.; Song, Michael

    2002-01-01

    No risk, no reward. Companies must take risks to launch new products speedily and successfully. The ability to diagnose and manage risks is increasingly considered of vital importance in high-risk innovation. This article presents the Risk Diagnosing Methodology (RDM), which aims to identify and eva

  12. Reliability of clinical ICD-10 schizophrenia diagnoses

    DEFF Research Database (Denmark)

    Jakobsen, Klaus D; Frederiksen, Julie N; Hansen, Thomas;

    2005-01-01

    value (87%) of ICD-10 schizophrenia and an overall good agreement between clinical and OPCRIT-derived diagnoses (kappa=0.60). An even higher positive predictive value was obtained when diagnoses were amalgamated into a diagnostic entity of schizophrenia-spectrum disorders (98%). Near perfect agreement...

  13. Benefits and limitations of a multidisciplinary approach to individualized management of Cornelia de Lange syndrome and related diagnoses.

    Science.gov (United States)

    January, Kathleen; Conway, Laura J; Deardorff, Matthew; Harrington, Ann; Krantz, Ian D; Loomes, Kathleen; Pipan, Mary; Noon, Sarah E

    2016-06-01

    Given the clinical complexities of Cornelia de Lange Syndrome (CdLS), the Center for CdLS and Related Diagnoses at The Children's Hospital of Philadelphia (CHOP) and The Multidisciplinary Clinic for Adolescents and Adults at Greater Baltimore Medical Center (GBMC) were established to develop a comprehensive approach to clinical management and research issues relevant to CdLS. Little work has been done to evaluate the general utility of a multispecialty approach to patient care. Previous research demonstrates several advantages and disadvantages of multispecialty care. This research aims to better understand the benefits and limitations of a multidisciplinary clinic setting for individuals with CdLS and related diagnoses. Parents of children with CdLS and related diagnoses who have visited a multidisciplinary clinic (N = 52) and who have not visited a multidisciplinary clinic (N = 69) were surveyed to investigate their attitudes. About 90.0% of multispecialty clinic attendees indicated a preference for multidisciplinary care. However, some respondents cited a need for additional clinic services including more opportunity to meet with other specialists (N = 20), such as behavioral health, and increased information about research studies (N = 15). Travel distance and expenses often prevented families' multidisciplinary clinic attendance (N = 41 and N = 35, respectively). Despite identified limitations, these findings contribute to the evidence demonstrating the utility of a multispecialty approach to patient care. This approach ultimately has the potential to not just improve healthcare for individuals with CdLS but for those with medically complex diagnoses in general. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  14. Instrumentation System Diagnoses a Thermocouple

    Science.gov (United States)

    Perotti, Jose; Santiago, Josephine; Mata, Carlos; Vokrot, Peter; Zavala, Carlos; Burns, Bradley

    2008-01-01

    An improved self-validating thermocouple (SVT) instrumentation system not only acquires readings from a thermocouple but is also capable of detecting deterioration and a variety of discrete faults in the thermocouple and its lead wires. Prime examples of detectable discrete faults and deterioration include open- and short-circuit conditions and debonding of the thermocouple junction from the object, the temperature of which one seeks to measure. Debonding is the most common cause of errors in thermocouple measurements, but most prior SVT instrumentation systems have not been capable of detecting debonding. The improved SVT instrumentation system includes power circuitry, a cold-junction compensator, signal-conditioning circuitry, pulse-width-modulation (PWM) thermocouple-excitation circuitry, an analog-to-digital converter (ADC), a digital data processor, and a universal serial bus (USB) interface. The system can operate in any of the following three modes: temperature measurement, thermocouple validation, and bonding/debonding detection. The software running in the processor includes components that implement statistical algorithms to evaluate the state of the thermocouple and the instrumentation system. When the power is first turned on, the user can elect to start a diagnosis/ monitoring sequence, in which the PWM is used to estimate the characteristic times corresponding to the correct configuration. The user also has the option of using previous diagnostic values, which are stored in an electrically erasable, programmable read-only memory so that they are available every time the power is turned on.

  15. Sustainability of Rural Family Enterprises

    Directory of Open Access Journals (Sweden)

    Maret Kirsipuu

    2012-12-01

    Full Text Available Family enterprises have been researched in traditional, stable market economies, to a lesser extent also in former socialist economies. A special focus has been on family enterprises’ sustainability and it has been discovered that one of the main pain spots is the change of generation related problems. Family enterprises can be sustainable only when they are prepared for a generation change. Family business culture and family traditions in Estonia have been broken. After Estonia regained independence in 1991, entrepreneurs started to restore previous farms and wished to continue family traditions of their ancestors; entrepreneurship started to develop and many people, especially in rural areas, started a family business. In 2012, these family entrepreneurs have a choice to make how to ensure that their family business will stay sustainable, how to pass family business over to their descendants so that the family business traditions won’t cease. This paper seeks to analyse factors that inhibit sustainability of family enterprises. The data sources are special scientific literature and the questionnaire surveys and interviews with family entrepreneurs conducted by the author over 2007−2011. It is possible to ensure that a family enterprise is sustainable only when the family entrepreneurs are prepared for the generation change. The present and future family entrepreneurs in Estonia can get information from this paper about the problems that may arise in connection with the generation change and knowledge to ensure sustainability of their family business.

  16. Rates of induced abortion in Denmark according to age, previous births and previous abortions

    Directory of Open Access Journals (Sweden)

    Marie-Louise H. Hansen

    2009-11-01

    Full Text Available Background: Whereas the effects of various socio-demographic determinants on a woman's risk of having an abortion are relatively well-documented, less attention has been given to the effect of previous abortions and births. Objective: To study the effect of previous abortions and births on Danish women's risk of an abortion, in addition to a number of demographic and personal characteristics. Data and methods: From the Fertility of Women and Couples Dataset we obtained data on the number of live births and induced abortions by year (1981-2001, age (16-39, county of residence and marital status. Logistic regression analysis was used to estimate the influence of the explanatory variables on the probability of having an abortion in a relevant year. Main findings and conclusion: A woman's risk of having an abortion increases with the number of previous births and previous abortions. Some interactions were was found in the way a woman's risk of abortion varies with calendar year, age and parity. The risk of an abortion for women with no children decreases while the risk of an abortion for women with children increases over time. Furthermore, the risk of an abortion decreases with age, but relatively more so for women with children compared to childless women. Trends for teenagers are discussed in a separate section.

  17. Sitosterolemia Presenting as Pseudohomozygous Familial Hypercholesterolemia.

    Science.gov (United States)

    Renner, Christian; Connor, William E; Steiner, Robert D

    2016-06-01

    A young girl, age 8.5 years, presented with profound hypercholesterolemia and early xanthomatosis, suggesting homozygous familial (or type II) hypercholesterolemia. The patient's low density lipoprotein (LDL) receptor function and parental lipoprotein profiles were determined to be normal, prompting revision of the initial diagnosis to pseudohomozygous familial hypercholesterolemia. When she subsequently presented with giant platelets, the case was presented to colleagues on an electronic mailing list. It was recommended that plasma and sterol analysis be performed, which led to a diagnosis of sitosterolemia. The presentation of profound hypercholesterolomia in childhood that ultimately is not attributed as due to homozygous or compound heterozygous defects in the LDL receptor gene has been termed pseudohomozygous familial (or type II) hypercholesterolemia (PHT2HC). Patients diagnosed with PHT2HC subsequently confirmed to have sitosterolemia have been previously reported only rarely. The challenge of achieving accurate specific diagnosis and appropriate workup for these conditions in children is discussed in the context of this rare case and review of the historical literature concerning these conditions. © 2016 Marshfield Clinic.

  18. A 23 years follow-up study identifies GLUT1 deficiency syndrome initially diagnosed as complicated hereditary spastic paraplegia.

    Science.gov (United States)

    Diomedi, Marina; Gan-Or, Ziv; Placidi, Fabio; Dion, Patrick A; Szuto, Anna; Bengala, Mario; Rouleau, Guy A; Gigli, Gian Luigi

    2016-11-01

    Glucose transporter 1 (GLUT1) deficiency syndrome (GLUT1DS) was initially described in the early 90s as a sporadic clinical condition, characterized by seizures, motor and intellectual impairment with variable clinical presentation, and without a known genetic cause. Although causative mutations in SLC2A1 were later identified and much more is known about the disease, it still remains largely underdiagnosed. In the current study, a previously described Italian family was re-analyzed using whole exome sequencing and clinically re-evaluated. Affected individuals presented with spastic paraplegia as a predominant symptom, with epilepsy and intellectual disability, inherited as an autosomal dominant trait with variable clinical presentation. While a novel variant of hereditary spastic paraplegia (HSP) was initially hypothesized in this family, previous linkage studies of known HSP genes did not identify the genetic cause. Exome-sequencing study identified a p.Arg126Cys mutation in the SLC2A1 gene, encoding GLUT1, which segregated with the affected members of the family. The diagnosis of GLUT1DS was further confirmed by cerebrospinal fluid analysis, and treatment was started with good initial response. The description of this large family provides further clinical information on this rare disease. It also offers an example of how GLUT1DS can be challenging to diagnose, and emphasizes the importance of lumbar puncture in the workflow of similar syndromes. Finally, it suggests that analysis of SLC2A1 should be considered in the diagnostic work up of HSP, especially if it is associated with epilepsy. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  19. Family Privilege

    Science.gov (United States)

    Seita, John R.

    2014-01-01

    Family privilege is defined as "strengths and supports gained through primary caring relationships." A generation ago, the typical family included two parents and a bevy of kids living under one roof. Now, every variation of blended caregiving qualifies as family. But over the long arc of human history, a real family was a…

  20. Family Privilege

    Science.gov (United States)

    Seita, John R.

    2014-01-01

    Family privilege is defined as "strengths and supports gained through primary caring relationships." A generation ago, the typical family included two parents and a bevy of kids living under one roof. Now, every variation of blended caregiving qualifies as family. But over the long arc of human history, a real family was a…

  1. Dysembryoplastic neuroepithelial tumor originally diagnosed as astrocytoma and oligodendroglioma

    Directory of Open Access Journals (Sweden)

    Diego Cassol Dozza

    2012-09-01

    Full Text Available Dysembryoplastic neuroepithelial tumor (DNT, described in 1988 and introduced in the WHO classification in 1993, affects predominantly children or young adults causing intractable complex partial seizures. Since it is benign and treated with surgical resection, its recognition is important. It has similarities with low-grade gliomas and gangliogliomas, which may recur and become malignant. OBJECTIVES: To investigate whether DNT was previously diagnosed as astrocytoma, oligodendroglioma, or ganglioglioma and to determine its frequency in a series of low-grade glial/glio-neuronal tumors. METHODS: Clinical, radiological, and histological aspects of 58 tumors operated from 1978 to 2008, classified as astrocytomas (32, including 8 pilocytic, oligodendrogliomas (12, gangliogliomas (7, and DNT (7, were reviewed. RESULTS: Four new DNT, one operated before 1993, previously classified as astrocytoma (3 and oligodendroglioma (1, were identified. One DNT diagnosed in 2002 was classified once more as angiocentric glioma. Therefore, 10 DNT (17.2% were identified. CONCLUSIONS: Clinical-radiological and histopathological correlations have contributed to diagnose the DNT.

  2. Anatomical Findings in Patients with Infective Endocarditis Diagnosed at Autopsy

    Directory of Open Access Journals (Sweden)

    Miguel Angel Serra Valdés

    2013-12-01

    Full Text Available Background: Infective endocarditis continues to challenge modern medicine despite its rare occurrence in the general population. Its incidence depends on risk groups. Correlation of anatomical and pathological findings with clinical and epidemiological elements may explain the current features of this condition. Objective: to describe the anatomical features of patients with infective endocarditis diagnosed at autopsy. Methods: A descriptive study including cases of infective endocarditis diagnosed at autopsy between 1986 and 2008 was conducted in the Provincial Clinical-Surgical Hospital Celia Sanchez, Granma. The variables analyzed were: age, sex, previous anatomical lesions, location of vegetations, multi-organ embolic infarcts and embolic abscesses, complications, culture of lesions and direct causes of death. Results: frequency of infective endocarditis diagnosed at necropsy ranged annually from 0.4 to 1.5%. Native valve endocarditis without previous damage was the most frequent. The anatomical findings were more common in the left side of the heart. Right-sided nosocomial endocarditis accounted for almost a third of the deceased patients and risk factors were identified. Embolic lesions affecting various organs, systemic complications and direct causes of death showed acute infectious endocarditis. The most common pathogen was Staphylococcus aureus. Conclusion: knowing the anatomical findings may contribute to the understanding of the clinical and epidemiological aspects of this condition. Correlation between anatomical and clinical findings was low; therefore difficulties in establishing the diagnosis during life are inferred.

  3. Cornelia de Lange syndrome: To diagnose or not to diagnose in utero?

    Science.gov (United States)

    Avagliano, Laura; Bulfamante, Gaetano Pietro; Massa, Valentina

    2017-06-01

    Cornelia de Lange syndrome (CdLS) is an inherited condition with a wide spectrum of phenotypic anomalies, consisting mainly of growth impairment, multi-organ abnormalities, and neurocognitive delay. Clinical diagnostic criteria after birth are well defined, whereas when to suspect the syndrome during intrauterine life still remains undefined. This review summarizes the main possible prenatal findings in CdLS, suggesting that a skilled ultrasound scan in cases of intrauterine growth restriction associated with other fetal abnormalities may improve the chance of prenatal diagnosis of CdLS, especially in families known to be at high risk. We propose that, following a sequence of detailed scans and examinations, CdLS affected fetuses could be diagnosed in utero, when one or more conditions (among them, intrauterine growth restriction, limb defects, facial abnormalities, diaphragmatic hernia, and heart diseases) are detected, and possibly confirmed by specific molecular testing. Birth Defects Research 109:771-777, 2017. © 2017 The Authors. Birth Defects Research Published by Wiley Periodicals, Inc. © 2017 The Authors. Birth Defects Research Published by Wiley Periodicals, Inc.

  4. Pars planitis in a family.

    Science.gov (United States)

    Tejada, P; Sanz, A; Criado, D

    1994-01-01

    The familial occurrence of pars planitis is rare. We have found ten cases reported previously. We describe a new case of pars planitis in a family. The affected members included a mother and two of her four children. The family was tested for HLA antigens in order to establish a comparison with others HLA types by different authors. We have not identified any cause for the familial occurrence of this disease. We discuss the role of genetic and ambiental factors.

  5. Hope as experienced in women newly diagnosed with gynaecological cancer

    DEFF Research Database (Denmark)

    Hammer, Kristianna; Mogensen, Ole; Hall, Elisabeth O C

    2009-01-01

    AIM: This article presents findings from a hermeneutic-phenomenological study with the aim to investigate the meaning of the lived experience of hope in women newly diagnosed with gynaecological cancer. METHOD: Fifteen women were interviewed the day they were receiving the diagnosis at a gynaecol......AIM: This article presents findings from a hermeneutic-phenomenological study with the aim to investigate the meaning of the lived experience of hope in women newly diagnosed with gynaecological cancer. METHOD: Fifteen women were interviewed the day they were receiving the diagnosis...... at a gynaecological department of a Danish university hospital. The women, aged 24-87 (median 52yrs), were diagnosed with ovarian, endometrial, cervical and vulvar cancer. RESULTS: Hope was found to be connected to both diagnosis, cure, family life and life itself and closely tied to hopelessness. The newly received...... cancer diagnosis made the women oscillate between hope and hopelessness, between positive expectations of getting cured and frightening feelings of the disease taking over. Five major interrelated themes of hope were identified: hope of being cured, cared for and getting back to normal, hope as being...

  6. Hope as experienced in women newly diagnosed with gynaecological cancer.

    Science.gov (United States)

    Hammer, Kristianna; Mogensen, Ole; Hall, Elisabeth O C

    2009-09-01

    This article presents findings from a hermeneutic-phenomenological study with the aim to investigate the meaning of the lived experience of hope in women newly diagnosed with gynaecological cancer. Fifteen women were interviewed the day they were receiving the diagnosis at a gynaecological department of a Danish university hospital. The women, aged 24-87 (median 52 yrs), were diagnosed with ovarian, endometrial, cervical and vulvar cancer. Hope was found to be connected to both diagnosis, cure, family life and life itself and closely tied to hopelessness. The newly received cancer diagnosis made the women oscillate between hope and hopelessness, between positive expectations of getting cured and frightening feelings of the disease taking over. Five major interrelated themes of hope were identified: hope of being cured, cared for and getting back to normal, hope as being active and feeling well, hope as an internal power to maintain integration, hope as significant relationships and hope as fighting against hopelessness. Thus, hope was woven together with hopelessness in a mysterious way; it took command through inner strength and courage based on a trust in being cured and of being in relationship with significant others. The findings of the close relationship between the shades of hope and hopelessness support the need for nurses to continue to practice hope-inspiring nursing. Nurses need to understand the complexity of hope and its close connection to hopelessness when newly diagnosed with a threatening disease as cancer; and the findings might help nurses assist patients in fighting hopelessness.

  7. Depression diagnoses following the identification of bipolar disorder: costly incongruent diagnoses

    Directory of Open Access Journals (Sweden)

    Schultz Jennifer F

    2010-06-01

    Full Text Available Abstract Background Previous research has documented that the symptoms of bipolar disorder are often mistaken for unipolar depression prior to a patient's first bipolar diagnosis. The assumption has been that once a patient receives a bipolar diagnosis they will no longer be given a misdiagnosis of depression. The objectives of this study were 1 to assess the rate of subsequent unipolar depression diagnosis in individuals with a history of bipolar disorder and 2 to assess the increased cost associated with this potential misdiagnosis. Methods This study utilized a retrospective cohort design using administrative claims data from 2002 and 2003. Patient inclusion criteria for the study were 1 at least 2 bipolar diagnoses in 2002, 2 continuous enrollment during 2002 and 2003, 3 a pharmacy benefit, and 4 age 18 to 64. Patients with at least 2 unipolar depression diagnoses in 2003 were categorized as having an incongruent diagnosis of unipolar depression. We used propensity scoring to control for selection bias. Utilization was evaluated using negative binomial models. We evaluated cost differences between patient cohorts using generalized linear models. Results Of the 7981 patients who met all inclusion criteria for the analysis, 17.5% (1400 had an incongruent depression diagnosis (IDD. After controlling for background differences, individuals who received an IDD had higher rates of inpatient and outpatient psychiatric utilization and cost, on average, an additional $1641 per year compared to individuals without an IDD. Conclusions A strikingly high proportion of bipolar patients are given the differential diagnosis of unipolar depression after being identified as having bipolar disorder. Individuals with an IDD had increased acute psychiatric care services, suggesting higher levels of relapses, and were at risk for inappropriate treatment, as antidepressant therapy without a concomitant mood-stabilizing medication is contraindicated in bipolar

  8. Diastematomyelia: A Case with Familial Aggregation of Neural Tube Defects

    Directory of Open Access Journals (Sweden)

    Nuray Öksüz Kanbur

    2004-01-01

    Full Text Available Intrauterine neural tube defects, meningomyelocele, and diastematomyelia are developmental errors at different stages of the closure of the neural tube. The familial aggregation of these neural tube defects is not previously reported in the literature and should make one think about a common embryogenesis and a possible common mechanism of etiopathogenesis leading to anomalies at different stages of this embryogenesis. This paper presents a 12-year-old Turkish boy with diastematomyelia who was suspected with a demonstrative dermatologic finding without any neurologic sign and diagnosed with magnetic resonance imaging (MRI. He has a positive family history of a stillbirth with neural tube defect, an exitus with meningomyelocele, and an epileptic child in his female siblings.

  9. Is parental competitive ability in winter negatively affected by previous springs' family size?

    NARCIS (Netherlands)

    Fokkema, Rienk W; Ubels, Richard; Tinbergen, Joost M

    2017-01-01

    Reproductive behavior cannot be understood without taking the local level of competition into account. Experimental work in great tits (Parus major) showed that (1) a survival cost of reproduction was paid in environments with high levels of competition during the winter period and (2) experimentall

  10. Is parental competitive ability in winter negatively affected by previous springs' family size?

    NARCIS (Netherlands)

    Fokkema, Rienk W; Ubels, Richard; Tinbergen, Joost M

    2017-01-01

    Reproductive behavior cannot be understood without taking the local level of competition into account. Experimental work in great tits (Parus major) showed that (1) a survival cost of reproduction was paid in environments with high levels of competition during the winter period and (2)

  11. Tuberous sclerosis presenting with spontaneous pneumothorax secondary to lymphangioleiomyomatosis; previously mistaken for asthma

    OpenAIRE

    Gosein, Maria Angela; Ameeral, Anthony; Konduru, Siva Krishna Prasad; Dola, Venkata Naga Srinivas

    2013-01-01

    A middle-aged female patient, previously diagnosed with asthma, presented with a large spontaneous left pneumothorax. She had a history of nephrectomy for a ruptured renal angiomyolipoma (AML) with a postoperative spontaneous pneumothorax when she was an adolescent. High-resolution CT chest revealed multiple scattered thin-walled lung parenchyma cysts consistent with lymphangioleiomyomatosis (LAM). Hepatic AMLs and adenoma sebaceum skin lesions were also noted, consistent with an overall diag...

  12. Pulmonary Aspergillosis in a Previously Healthy 13-Year-Old Boy

    Directory of Open Access Journals (Sweden)

    Jonathan H. Rayment

    2016-01-01

    Full Text Available Chronic granulomatous disease (CGD is a rare, polygenic primary immunodeficiency. In this case report, we describe a previously healthy 13-year-old boy who presented with multifocal pulmonary aspergillosis and was subsequently diagnosed with an autosomal recessive form of chronic granulomatous disease. CGD has a variable natural history and age of presentation and should be considered when investigating a patient with recurrent or severe infections with catalase-positive organisms.

  13. How Are Pelvic Floor Disorders Diagnosed?

    Science.gov (United States)

    ... Information Clinical Trials Resources and Publications How are pelvic floor disorders diagnosed? Skip sharing on social media links ... fee ). This test is used to evaluate the pelvic floor and rectum while the patient is having a ...

  14. How Are Overweight and Obesity Diagnosed?

    Science.gov (United States)

    ... body mass index (BMI) and possibly a high waist circumference, and tests to rule out other medical conditions. ... diagnosed as obese if you have a large waist circumference that suggests increased amounts of fat in your ...

  15. How Are Soft Tissue Sarcomas Diagnosed?

    Science.gov (United States)

    ... type of cancer or a benign disease. Several types of biopsies are used to diagnose sarcomas. Doctors experienced with ... But if FNA results suggest a sarcoma, another type of biopsy will usually be done to remove enough tissue ...

  16. How Are Obesity and Overweight Diagnosed?

    Science.gov (United States)

    ... Clinical Trials Resources and Publications How are obesity & overweight diagnosed? Skip sharing on social media links Share ... common way to determine if a person is overweight or obese is to calculate body mass index ( ...

  17. Twelve previously unknown phage genera are ubiquitous in global oceans.

    Science.gov (United States)

    Holmfeldt, Karin; Solonenko, Natalie; Shah, Manesh; Corrier, Kristen; Riemann, Lasse; Verberkmoes, Nathan C; Sullivan, Matthew B

    2013-07-30

    Viruses are fundamental to ecosystems ranging from oceans to humans, yet our ability to study them is bottlenecked by the lack of ecologically relevant isolates, resulting in "unknowns" dominating culture-independent surveys. Here we present genomes from 31 phages infecting multiple strains of the aquatic bacterium Cellulophaga baltica (Bacteroidetes) to provide data for an underrepresented and environmentally abundant bacterial lineage. Comparative genomics delineated 12 phage groups that (i) each represent a new genus, and (ii) represent one novel and four well-known viral families. This diversity contrasts the few well-studied marine phage systems, but parallels the diversity of phages infecting human-associated bacteria. Although all 12 Cellulophaga phages represent new genera, the podoviruses and icosahedral, nontailed ssDNA phages were exceptional, with genomes up to twice as large as those previously observed for each phage type. Structural novelty was also substantial, requiring experimental phage proteomics to identify 83% of the structural proteins. The presence of uncommon nucleotide metabolism genes in four genera likely underscores the importance of scavenging nutrient-rich molecules as previously seen for phages in marine environments. Metagenomic recruitment analyses suggest that these particular Cellulophaga phages are rare and may represent a first glimpse into the phage side of the rare biosphere. However, these analyses also revealed that these phage genera are widespread, occurring in 94% of 137 investigated metagenomes. Together, this diverse and novel collection of phages identifies a small but ubiquitous fraction of unknown marine viral diversity and provides numerous environmentally relevant phage-host systems for experimental hypothesis testing.

  18. Challenges in diagnosing tuberculosis in children

    DEFF Research Database (Denmark)

    Rahman, Nadia; Pedersen, Karin Kæreby; Nielsen, Vibeke Rosenfeldt

    2012-01-01

    Clinical investigations of childhood tuberculosis (TB) are challenged by the paucibacillary nature of the disease and the difficulties in obtaining specimens. We investigated the challenges in diagnosing TB in children in a low-incidence country.......Clinical investigations of childhood tuberculosis (TB) are challenged by the paucibacillary nature of the disease and the difficulties in obtaining specimens. We investigated the challenges in diagnosing TB in children in a low-incidence country....

  19. Exploring the genetic counselor's role in facilitating meaning-making: rare disease diagnoses.

    Science.gov (United States)

    Helm, Benjamin M

    2015-04-01

    The main goal of the constructivist meaning-making framework is to encourage grief adaptation through the search for meaning in loss. Strategies to help patients construct meaning from their experiences may lead to positive adaptation. This strategy has been used in contemporary grief counseling, but it may also be beneficial in the genetic counseling scenario. The diagnosis of a rare genetic disorder often has considerable psychosocial impact as patients and families describe feelings of isolation and hopelessness. Negative experiences with healthcare providers often reinforce these feelings. Genetic counselors continue to provide education and psychosocial support to patients and families with rare genetic disorders, and meaning-making strategies may provide a framework for which to help patients and families adapt to these challenging diagnoses. In this paper I explore the background of meaning-making counseling strategy and describe an experience in which it was used for counseling a family with a child with Mowat-Wilson syndrome. I show how a meaning-making framework can help families explore and construct meaning from their experiences and encourage positive adaptation. I also address the possible limitations of this strategy and the need to share additional experiences with this counseling framework. Meaning-making can be another tool for genetic counselors to help guide families in their grief and adaptation to rare disease diagnoses. I also describe qualities and aspects of counseling through the lens of meaning-making and stress the importance of addressing psychosocial dimensions of rare disease diagnoses.

  20. Quality of life in children newly diagnosed with cancer and their mothers

    Directory of Open Access Journals (Sweden)

    Stride Christopher B

    2005-04-01

    Full Text Available Abstract Background With current treatments, approximately 75% of children diagnosed with cancer can expect to achieve disease-free survival. However, treatments are complex and aggressive, potentially compromising QOL for children and their parents. Although previous work has shown increased anxiety and depression among parents after diagnosis, the recent development of standardised measures of QOL enables us to look more directly at the impact of diagnosis on mothers' and children's QOL. The aims of this study are to i describe QOL for children and their mothers after diagnosis by comparing their scores with population norms, ii explore the relationship between mothers' worries about the illness and their QOL, and iii determine the relationship between mothers ratings of their own QOL and their child. Method A total of 87 families took part, constituting 60% of those eligible. The children included 58 males and 29 females aged between 2 years 6 months to 16 years 3 months (mean = 7 years, median = 5 years 8 months. Diagnoses were acute lymphoblastic leukaemia (ALL, n = 57, brain tumours (n = 11, bone tumours (n = 17 and 2 rare cancers. Mothers completed questionnaires about their own and the child's QOL. Results Mothers' reported their own and the child's QOL to be significantly lower than population norms. There were significant correlations between mothers' worries and their own and their ratings of the child's QOL and mothers' ratings of their own QOL correlated with their ratings of the child's QOL. Conclusion Both children and their mothers experience significantly compromised QOL in the months following diagnosis. Mothers who rated their own QOL to be poor also rate their child's QOL to be low. These results suggest caution is required where mothers rate their child's QOL. Efforts must continue to be made to improve QOL of children especially in the period immediately following diagnosis.

  1. Measles Outbreak among Previously Immunized Adult Healthcare Workers, China, 2015

    Directory of Open Access Journals (Sweden)

    Zhengyi Zhang

    2016-01-01

    Full Text Available Measles is caused by measles virus belonging to genus Morbillivirus of the family Paramyxoviridae. Vaccination has played a critical role in controlling measles infection worldwide. However, in the recent years, outbreaks of measles infection still occur in many developing countries. Here, we report an outbreak of measles among healthcare workers and among the 60 measles infected patients 50 were healthcare workers including doctors, nurses, staff, and medics. Fifty-one patients (85% tested positive for IgM antibodies against the measles virus and 50 patients (83.3% tested positive for measles virus RNA. Surprisingly, 73.3% of the infected individuals had been previously immunized against measles. Since there is no infection division in our hospital, the fever clinics are located in the Emergency Division. In addition, the fever and rash were not recognized as measles symptoms at the beginning of the outbreak. These factors result in delay in isolation and early confirmation of the suspected patients and eventually a measles outbreak in the hospital. Our report highlights the importance of following a two-dose measles vaccine program in people including the healthcare workers. In addition, vigilant attention should be paid to medical staff with clinical fever and rash symptoms to avoid a possible nosocomial transmission of measles infection.

  2. Recurrent arthralgias in a patient with previous Mayaro fever infection.

    Science.gov (United States)

    Taylor, Shawn F; Patel, Paresh R; Herold, Thomas J S

    2005-04-01

    Mayaro fever is an acute, self-limited, febrile, mosquito-borne viral disease manifested by fever, chills, headache, myalgias, and arthralgias. The virus belongs to the family Togaviridae and the genus Alphavirus. Five other mosquito-borne viruses have been described as causing a similar dengue-like illness. The virus was first isolated in 1954, and the first epidemics were described in 1955 in Brazil and Bolivia. Other cases have been reported in Suriname, Brazil, Peru, French Guiana, and Trinidad. Up to 10 to 15% of febrile illnesses in endemic areas have been attributed to Mayaro virus. The exact pathogenesis and pathophysiology among humans is unknown. Animal models have demonstrated necrosis of skeletal muscle, periosteum, perichondrial tissues, and evidence of meningitis and encephalitis. All previous cases of Mayaro fever describe a self-limited illness. No reports of recurrent symptoms exist in the literature. This report describes a case of recurrent arthralgias in a military service member presenting to the emergency department.

  3. Measles Outbreak among Previously Immunized Adult Healthcare Workers, China, 2015

    Science.gov (United States)

    Zhang, Zhengyi; Zhao, Yuan; Yang, Lili; Lu, Changhong; Meng, Ying; Guan, Xiaoli; An, Hongjin; Zhang, Meizhong; Guo, Wenqin; Shang, Bo; Yu, Jing

    2016-01-01

    Measles is caused by measles virus belonging to genus Morbillivirus of the family Paramyxoviridae. Vaccination has played a critical role in controlling measles infection worldwide. However, in the recent years, outbreaks of measles infection still occur in many developing countries. Here, we report an outbreak of measles among healthcare workers and among the 60 measles infected patients 50 were healthcare workers including doctors, nurses, staff, and medics. Fifty-one patients (85%) tested positive for IgM antibodies against the measles virus and 50 patients (83.3%) tested positive for measles virus RNA. Surprisingly, 73.3% of the infected individuals had been previously immunized against measles. Since there is no infection division in our hospital, the fever clinics are located in the Emergency Division. In addition, the fever and rash were not recognized as measles symptoms at the beginning of the outbreak. These factors result in delay in isolation and early confirmation of the suspected patients and eventually a measles outbreak in the hospital. Our report highlights the importance of following a two-dose measles vaccine program in people including the healthcare workers. In addition, vigilant attention should be paid to medical staff with clinical fever and rash symptoms to avoid a possible nosocomial transmission of measles infection. PMID:27366157

  4. Unusual coexistence between lupus nephritis and neurofibromatosis 1: a case report and review of previous cases

    Directory of Open Access Journals (Sweden)

    Manoj Kumar Roy

    2015-05-01

    Full Text Available The association of Neurofibromatosis 1 (NF 1, an autosomal dominant genetic disease with autoimmune diseases like systemic lupus erythematosus is rare, five case reports are there in medical literature showing such association. Here we have documented a case of Lupus nephritis associated with Neurofibromatosis 1 diagnosed in the same setting, in a 24 years old female patient presented with oliguria, hypertension, anasarca, cafe-au-lait spots, palmer freckling, subcutaneous nodules, alopecia areata and positive family history for NF 1. [Int J Res Med Sci 2015; 3(5.000: 1277-1280

  5. Familial gigantism

    NARCIS (Netherlands)

    W.W. de Herder (Wouter)

    2012-01-01

    textabstractFamilial GH-secreting tumors are seen in association with three separate hereditary clinical syndromes: multiple endocrine neoplasia type 1, Carney complex, and familial isolated pituitary adenomas.

  6. Familial gigantism

    Directory of Open Access Journals (Sweden)

    Wouter W. de Herder

    2012-01-01

    Full Text Available Familial GH-secreting tumors are seen in association with three separate hereditary clinical syndromes: multiple endocrine neoplasia type 1, Carney complex, and familial isolated pituitary adenomas.

  7. Use of Complementary and Alternative Medicine among Children Diagnosed with Autism Spectrum Disorder

    Science.gov (United States)

    Hanson, Ellen; Kalish, Leslie A.; Bunce, Emily; Curtis, Christine; McDaniel, Samuel; Ware, Janice; Petry, Judith

    2007-01-01

    This study examined the prevalence of the use of different types of conventional, complementary and alternative therapies by children diagnosed with an autism spectrum disorder (ASD). Of 112 families surveyed, 74% were using complementary and alternative medicine (CAM) for their child with ASD. CAM use was most strongly associated with parent…

  8. Peri-articular histiocytic sarcoma and previous joint disease in Bernese Mountain Dogs.

    Science.gov (United States)

    van Kuijk, L; van Ginkel, K; de Vos, J P; Brearley, M J; Butinar, J; Gielen, I; van Garderen, E; Chiers, K; Verhoeven, P S

    2013-01-01

    Peri-articular histiocytic sarcoma (PAHS) occurs in dogs, including Bernese Mountain Dogs (BMD). An etiologic relationship with previous joint disease has not been documented. Peri-articular histiocytic sarcoma in BMD will be more frequently encountered around previously diseased joints compared with normal joints. 920 European BMD. A retrospective study, in which data were obtained through an Internet questionnaire and from 2 veterinary pathology laboratories. Archived samples of hematoxylin-eosin (H&E) staining diagnosed PAHS and synovial cell sarcoma (SCS) were immunolabeled with CD18 and pancytokeratin. Descriptive, comparative, and actuarial statistics comprise the data analysis. All primary synovial tumors were identified as PAHS based on their morphology, positive CD18, and negative pancytokeratin labeling. Joint disease was diagnosed in 226 BMD, of which 15 developed PAHS in a previously diseased joint and 3 in a nondiseased joint. Of the remaining 694 BMD without joint disease, 9 developed PAHS. The odds ratio for a dog with previous joint disease developing PAHS is calculated as 5.4 (95% CI: 2.3-12.5; P < .0001) compared with no previous joint problem. A significant association between previous joint disease and PAHS in the same joint was demonstrated for the left elbow (P = .016), right elbow (P = .006), right shoulder (P = .047), left and right stifle (P < .001), and left carpal joint (P = .010). The results of this study suggest a relation between previous joint disease and the development of PAHS in the same joint of European BMD. Owners of BMD should monitor dogs for peri-articular swellings, particularly around previously diseased joints. Copyright © 2013 by the American College of Veterinary Internal Medicine.

  9. Diagnosing Coronary Heart Disease using Ensemble Machine Learning

    Directory of Open Access Journals (Sweden)

    Kathleen H. Miao

    2016-10-01

    Full Text Available Globally, heart disease is the leading cause of death for both men and women. One in every four people is afflicted with and dies of heart disease. Early and accurate diagnoses of heart disease thus are crucial in improving the chances of long-term survival for patients and saving millions of lives. In this research, an advanced ensemble machine learning technology, utilizing an adaptive Boosting algorithm, is developed for accurate coronary heart disease diagnosis and outcome predictions. The developed ensemble learning classification and prediction models were applied to 4 different data sets for coronary heart disease diagnosis, including patients diagnosed with heart disease from Cleveland Clinic Foundation (CCF, Hungarian Institute of Cardiology (HIC, Long Beach Medical Center (LBMC, and Switzerland University Hospital (SUH. The testing results showed that the developed ensemble learning classification and prediction models achieved model accuracies of 80.14% for CCF, 89.12% for HIC, 77.78% for LBMC, and 96.72% for SUH, exceeding the accuracies of previously published research. Therefore, coronary heart disease diagnoses derived from the developed ensemble learning classification and prediction models are reliable and clinically useful, and can aid patients globally, especially those from developing countries and areas where there are few heart disease diagnostic specialists.

  10. Diagnosing Traffic Anomalies Using a Two-Phase Model

    Institute of Scientific and Technical Information of China (English)

    Bin Zhang; Jia-Hai Yang; Jian-Ping Wu; Ying-Wu Zhu

    2012-01-01

    Network traffic anomalies are unusual changes in a network,so diagnosing anomalies is important for network management.Feature-based anomaly detection models (ab)normal network traffic behavior by analyzing packet header features. PCA-subspace method (Principal Component Analysis) has been verified as an efficient feature-based way in network-wide anomaly detection.Despite the powerful ability of PCA-subspace method for network-wide traffic detection,it cannot be effectively used for detection on a single link.In this paper,different from most works focusing on detection on flow-level traffic,based on observations of six traffc features for packet-level traffic,we propose a new approach B6SVM to detect anomalies for packet-level traffic on a single link.The basic idea of B6-SVM is to diagnose anomalies in a multi-dimensional view of traffic features using Support Vector Machine (SVM).Through two-phase classification,B6-SVM can detect anomalies with high detection rate and low false alarm rate.The test results demonstrate the effectiveness and potential of our technique in diagnosing anomalies.Further,compared to previous feature-based anomaly detection approaches,B6-SVM provides a framework to automatically identify possible anomalous types.The framework of B6-SVM is generic and therefore,we expect the derived insights will be helpful for similar future research efforts.

  11. Delayed Diagnoses: Nonspecific Findings and Diagnostic Challenges in Eating Disorders

    Directory of Open Access Journals (Sweden)

    Dan Schwarz

    2009-01-01

    Full Text Available Objective. Eating disorders commonly present with nonspecific findings, masquerading as other, more common etiologies of malnutrition and wasting. In low-prevalence populations, these ambiguities can complicate clinicians’ diagnostic reasoning, resulting in delayed or missed diagnoses. Method. We report the atypical case of a 51-year-old male with a five-year history of unexplained weight loss despite extensive past medical evaluation. Previous documentation of profound lymphopenia and bone marrow atrophy had not been linked to a known association with eating disorders. Results. Evaluation for medical etiologies of wasting was negative. Following psychiatric evaluation, the patient was diagnosed with an eating disorder, not otherwise specified, and admitted to a specialized nutritional rehabilitation program. Conclusion. The nonspecific clinical history, physical exam, and laboratory abnormalities of eating disorders can make these diagnoses challenging and delay appropriate treatment. Clinicians should consider eating disorders in patients with malnutrition, severe lymphopenias, and gelatinous marrow transformation early in their workup, so as to avoid potentially negative outcomes.

  12. Clinical expression of developmental coordination disorder in a large Canadian family.

    Science.gov (United States)

    Gaines, Robin; Collins, David; Boycott, Kym; Missiuna, Cheryl; Delaat, Denise; Soucie, Helen

    2008-11-01

    Previous studies of the phenotype of developmental coordination disorder (DCD) have largely concentrated on population-based samples. The present study reports on an in-depth examination of a large Canadian family with eight children, after three children who were suspected to have DCD were referred for evaluation. Subsequently, five of the six children whose motor impairments could be measured, and the mother, met the diagnostic criteria for DCD as per the American Psychiatric Association's Diagnostic and Statistical Manual of Mental Disorders - fourth edition. The family members diagnosed with DCD showed remarkably similar profiles of motor difficulties. Additionally, the five children diagnosed with DCD had current speech articulation difficulties, with four of them having visited speech/language pathologists; the mother had a lateral lisp. More in-depth testing for three children revealed intact intellectual, academic and language comprehension skills. Three of the children diagnosed with DCD were obese. The present report highlights familial clustering of DCD and the presence of comorbid conditions in the affected children.

  13. The Sexual Victimization of Male Children: A Review of Previous Research.

    Science.gov (United States)

    Vander Mey, Brenda J.

    1988-01-01

    Research indicates that male children are more likely to be abused by nonfamily than by family members. Residing in a neglectful home or a mother-headed household and having previous homosexual contact tend to heighten risk for sexual abuse by nonfamily members. Effects appear to be serious and long-lasting. (Author/JW)

  14. "A remarkable experience of god, shaping us as a family": parents' use of faith following child's rare disease diagnosis.

    Science.gov (United States)

    Purcell, Hillary N; Whisenhunt, Allison; Cheng, Joy; Dimitriou, Sophia; Young, Lisa R; Grossoehme, Daniel H

    2015-01-01

    A child's chronic illness can lead parents to utilize different types of coping, including religious beliefs and practices. Previous studies have generally focused on life-shortening diagnoses. The present study explored parental use of faith when the diagnosis was not life-shortening, using grounded-theory qualitative methodology. Data were collected using semi-structured telephone interviews with N = 12 parents of children diagnosed with Neuroendocrine Hyperplasia of Infancy (NEHI); approximately 50% of the diagnosed population in the United States at the time of the interview. Participants used faith to cope and make meaning in five ways: parents believed NEHI happened for a reason; beliefs provided resilience; parents were sustained by faith communities; beliefs affected parents' behavior; and beliefs developed over time. The results suggest that chaplains develop means for universal screening for spiritual struggle; educating congregational clergy how to support families in which a child has a chronic illness; and assisting parents construct meaning of their experience.

  15. Positive affect in infant siblings of children diagnosed with autism spectrum disorder.

    Science.gov (United States)

    Filliter, Jillian H; Longard, Julie; Lawrence, Michael A; Zwaigenbaum, Lonnie; Brian, Jessica; Garon, Nancy; Smith, Isabel M; Roncadin, Caroline; Roberts, Wendy; Bryson, Susan E

    2015-04-01

    Research on the expression of positive affect in young children with Autism Spectrum Disorder (ASD) suggests that differences in this domain emerge late in the first year or early in the second year. However, many previous studies in this area employed retrospective research methods and global rating schemes. In the current study, the expression of positive affect was examined prospectively at ages 6, 12, and 18 months in three groups: infant siblings with ASD, infant siblings without ASD, and low-risk comparison infants. Infant siblings were the younger brothers or sisters of children diagnosed with ASD and, therefore, had a higher familial risk of ASD. The frequency and duration of smiles were coded from video excerpts from the Autism Observation Scale for Infants (Bryson, Zwaigenbaum, McDermott, Rombough, and Brian 2008), a standardized, play-based assessment of early signs of ASD. Results indicated that at 12 months, infant siblings with ASD had a lower rate of smiling than the other two groups. At 18 months, infant siblings with ASD continued to display a lower rate of smiling than infant siblings without ASD, but not comparison infants. Overall, these results indicate that infant siblings with ASD demonstrate less positive affect than infant siblings without ASD and low-risk comparison infants at 12 months. This suggests that reduced smiling may be an informative behavioural risk marker for ASD by children's first birthdays and may have implications for our understanding of atypical social development in children with ASD.

  16. Cardiomyopathy, familial dilated

    Directory of Open Access Journals (Sweden)

    Mestroni Luisa

    2006-07-01

    Full Text Available Abstract Dilated cardiomyopathy (DCM is a heart muscle disease characterized by ventricular dilatation and impaired systolic function. Patients with DCM suffer from heart failure, arrhythmia, and are at risk of premature death. DCM has a prevalence of one case out of 2500 individuals with an incidence of 7/100,000/year (but may be under diagnosed. In many cases the disease is inherited and is termed familial DCM (FDC. FDC may account for 20–48% of DCM. FDC is principally caused by genetic mutations in FDC genes that encode for cytoskeletal and sarcomeric proteins in the cardiac myocyte. Family history analysis is an important tool for identifying families affected by FDC. Standard criteria for evaluating FDC families have been published and the use of such criteria is increasing. Clinical genetic testing has been developed for some FDC genes and will be increasingly utilized for evaluating FDC families. Through the use of family screening by pedigree analysis and/or genetic testing, it is possible to identify patients at earlier, or even presymptomatic stages of their disease. This presents an opportunity to invoke lifestyle changes and to provide pharmacological therapy earlier in the course of disease. Genetic counseling is used to identify additional asymptomatic family members who are at risk of developing symptoms, allowing for regular screening of these individuals. The management of FDC focuses on limiting the progression of heart failure and controlling arrhythmia, and is based on currently accepted treatment guidelines for DCM. It includes general measures (salt and fluid restriction, treatment of hypertension, limitation of alcohol intake, control of body weight, moderate exercise and pharmacotherapy. Cardiac resynchronization, implantable cardioverter defibrillators and left ventricular assist devices have progressively expanding usage. Patients with severe heart failure, severe reduction of the functional capacity and depressed

  17. Families classification including multiopposition asteroids

    Science.gov (United States)

    Milani, Andrea; Spoto, Federica; Knežević, Zoran; Novaković, Bojan; Tsirvoulis, Georgios

    2016-01-01

    In this paper we present the results of our new classification of asteroid families, upgraded by using catalog with > 500,000 asteroids. We discuss the outcome of the most recent update of the family list and of their membership. We found enough evidence to perform 9 mergers of the previously independent families. By introducing an improved method of estimation of the expected family growth in the less populous regions (e.g. at high inclination) we were able to reliably decide on rejection of one tiny group as a probable statistical fluke. Thus we reduced our current list to 115 families. We also present newly determined ages for 6 families, including complex 135 and 221, improving also our understanding of the dynamical vs. collisional families relationship. We conclude with some recommendations for the future work and for the family name problem.

  18. Transition-Aged Youths With Dual Diagnoses.

    Science.gov (United States)

    Kalinyak, Christopher M; Gary, Faye A; Killion, Cheryl M; Suresky, M Jane

    2016-03-01

    The current study provides an overview of the research knowledge about unique problems encountered by transition-aged youths with dual diagnoses. A description of the considerable physical and emotional changes experienced by transition-aged youths provides a foundation for exploring the pressures and challenges compounded by mental health issues and substance abuse. Programs that provide intensive support throughout the transition years pay valuable dividends. However, transition-aged youths with dual diagnoses of mental disorders and substance abuse find themselves faced with limited or nonexistent options. There is a confusing lack of continuity and consistency of supports and services, which complicates the already perplexing circumstances that beleaguer the lives of young adults with dual diagnoses. Copyright 2016, SLACK Incorporated.

  19. Pulmonary embolus diagnosed by endobronchial ultrasound

    Directory of Open Access Journals (Sweden)

    Justin M. Segraves

    2015-01-01

    Full Text Available Endobronchial ultrasound (EBUS imaging is commonly used to evaluate and aid in biopsy of mediastinal lymph nodes. Pulmonary arteries are readily viewable with this type of imaging modality. We present a case report of a pulmonary embolism (PE diagnosed by EBUS. Our patient had no smoking history and presented with respiratory and constitutional symptoms, urinary retention, and leg weakness suspicious for malignancy with metastasis to spine. Chest computed tomography (CT was suggestive of lung carcinoma and specifically showed no PE. EBUS with TBNA was requested for tissue diagnosis. A mobile filling defect consistent with a PE was observed and reported to primary team. Follow-up chest CT showed an acute PE which confirmed the diagnosis originally made by EBUS. Bronchoscopists should be aware of potential to diagnose a PE while performing EBUS. Additionally, there may be a role in using EBUS specifically to diagnose a PE in the right patient population.

  20. Anterior diffuse scleritis diagnosed as conjunctivitis

    Directory of Open Access Journals (Sweden)

    K. P. Mashige

    2012-12-01

    Full Text Available This article presents a case of anterior diffuse scleritis that initially was diagnosed as conjunctivitis. Anterior diffuse scleritis (ADS is a potentially vision-threatening inflammation of the sclera whose etiology may include autoimmune and systemic conditions such as rheumatoid arthritis and tuberculosis. The signs and symptoms of ADS include pain, tearing, tenderness, redness, painful sensitivity to light and decreased visual acuity. Ocular and physical examinations including blood tests to rule out underlying causes are important. Medications such as corticosteroids, non-steroidal anti-inflam-matory drugs and possibly immune-suppressants are used in the management of ADS. If care is not taken, ADS can be mis-diagnosed as conjunctivitis because the redness is similar in both conditions. Such mis-diagnosis can be sight-threatening and therefore it is essential that primary eye care practitioners are cautious in all diagnoses of red eye conditions. (S Afr Optom 2012 71(1 51-54

  1. Reliability of clinical ICD-10 schizophrenia diagnoses

    DEFF Research Database (Denmark)

    Jakobsen, Klaus D; Frederiksen, Julie N; Hansen, Thomas

    2005-01-01

    Concern has been expressed as to the reliability of clinical ICD-10 diagnosis of schizophrenia. This study was designed to assess the diagnostic reliability of the clinical ICD-10 diagnosis of schizophrenia in a random sample of Danish in- and outpatients with a history of psychosis. A sample...... value (87%) of ICD-10 schizophrenia and an overall good agreement between clinical and OPCRIT-derived diagnoses (kappa=0.60). An even higher positive predictive value was obtained when diagnoses were amalgamated into a diagnostic entity of schizophrenia-spectrum disorders (98%). Near perfect agreement...... was seen between OPCRIT-derived ICD-10 and DSM-IV diagnoses (kappa=0.87). Thus, this study demonstrates high reliability of the clinical diagnosis of schizophrenia and even more so of the diagnosis of schizophrenia-spectrum disorder....

  2. Familial hypophosphatemic rickets

    Directory of Open Access Journals (Sweden)

    Sattur A

    2010-01-01

    Full Text Available Rickets is the failure of mineralization of osteoid and newly formed bones in a child skeleton. It is commonly associated with vitamin D deficiency; however, it can be because of a decrease in the serum phosphate levels leading to inadequate mineralization of cartilage and bone, consequent skeletal deformities, and growth retardation. The hypophosphatemic conditions that interfere in bone mineralization comprise many hereditary or acquired diseases. One of the hereditary types of hypophosphatemic rickets is the familial hypophosphatemic rickets. This rare variety was diagnosed in a 9-year-old patient who had come with a chief complaint of a missing tooth. In the present case, radiographic aspects of oral and systemic manifestations of familial hypophosphatemic rickets are highlighted.

  3. Sacrococcygeal pilonidal disease: analysis of previously proposed risk factors

    Directory of Open Access Journals (Sweden)

    Ali Harlak

    2010-01-01

    Full Text Available PURPOSE: Sacrococcygeal pilonidal disease is a source of one of the most common surgical problems among young adults. While male gender, obesity, occupations requiring sitting, deep natal clefts, excessive body hair, poor body hygiene and excessive sweating are described as the main risk factors for this disease, most of these need to be verified with a clinical trial. The present study aimed to evaluate the value and effect of these factors on pilonidal disease. METHOD: Previously proposed main risk factors were evaluated in a prospective case control study that included 587 patients with pilonidal disease and 2,780 healthy control patients. RESULTS: Stiffness of body hair, number of baths and time spent seated per day were the three most predictive risk factors. Adjusted odds ratios were 9.23, 6.33 and 4.03, respectively (p<0.001. With an adjusted odds ratio of 1.3 (p<.001, body mass index was another risk factor. Family history was not statistically different between the groups and there was no specific occupation associated with the disease. CONCLUSIONS: Hairy people who sit down for more than six hours a day and those who take a bath two or less times per week are at a 219-fold increased risk for sacrococcygeal pilonidal disease than those without these risk factors. For people with a great deal of hair, there is a greater need for them to clean their intergluteal sulcus. People who engage in work that requires sitting in a seat for long periods of time should choose more comfortable seats and should also try to stand whenever possible.

  4. Sacrococcygeal pilonidal disease: analysis of previously proposed risk factors

    Science.gov (United States)

    Harlak, Ali; Mentes, Oner; Kilic, Selim; Coskun, Kagan; Duman, Kazim; Yilmaz, Fahri

    2010-01-01

    PURPOSE Sacrococcygeal pilonidal disease is a source of one of the most common surgical problems among young adults. While male gender, obesity, occupations requiring sitting, deep natal clefts, excessive body hair, poor body hygiene and excessive sweating are described as the main risk factors for this disease, most of these need to be verified with a clinical trial. The present study aimed to evaluate the value and effect of these factors on pilonidal disease. METHOD Previously proposed main risk factors were evaluated in a prospective case control study that included 587 patients with pilonidal disease and 2,780 healthy control patients. RESULTS Stiffness of body hair, number of baths and time spent seated per day were the three most predictive risk factors. Adjusted odds ratios were 9.23, 6.33 and 4.03, respectively (p<0.001). With an adjusted odds ratio of 1.3 (p<.001), body mass index was another risk factor. Family history was not statistically different between the groups and there was no specific occupation associated with the disease. CONCLUSIONS Hairy people who sit down for more than six hours a day and those who take a bath two or less times per week are at a 219-fold increased risk for sacrococcygeal pilonidal disease than those without these risk factors. For people with a great deal of hair, there is a greater need for them to clean their intergluteal sulcus. People who engage in work that requires sitting in a seat for long periods of time should choose more comfortable seats and should also try to stand whenever possible. PMID:20186294

  5. The roles of familial alcoholism and adolescent family harmony in young adults' substance dependence disorders: mediated and moderated relations.

    Science.gov (United States)

    Zhou, Qing; King, Kevin M; Chassin, Laurie

    2006-05-01

    This study examined the prospective relations among family history density of alcoholism (FHD), adolescent family harmony, and young adults' alcohol and drug dependence. Family harmony was rated by mothers and fathers in adolescence, and young adults' substance dependence diagnoses were obtained through structured interviews. Higher FHD predicted lower adolescent family harmony, which in turn increased young adults' odds of being diagnosed with drug dependence (with and without alcohol dependence) compared to no diagnoses or to alcohol dependence only. Family harmony also interacted with FHD such that the protective effect of family harmony on young adults' drug dependence with or without alcohol dependence decreased as FHD rose, and was nonsignificant at high levels of FHD. The findings suggest the importance of distinguishing among alcohol and drug dependence disorders and examining their differential etiological pathways, and also suggest that the protective effects of harmonious family environments on substance dependence may be limited at high levels of FHD.

  6. Perceived Family Resources Based on Number of Members with ADHD

    Science.gov (United States)

    Corwin, Melinda; Mulsow, Miriam; Feng, Du

    2012-01-01

    Objective: This study examines how the number of family members with ADHD affects other family members' perceived resources. Method: A total of 40 adolescents diagnosed with ADHD and their mothers, fathers, and adolescent siblings living in the household participated. Hierarchical linear modeling was used to analyze family-level data from a total…

  7. Social Perception and WAIS-IV Performance in Adolescents and Adults Diagnosed with Asperger's Syndrome and Autism

    Science.gov (United States)

    Holdnack, James; Goldstein, Gerald; Drozdick, Lisa

    2011-01-01

    Previous research using the Wechsler scales has identified areas of cognitive weaknesses in children, adolescents, and adults diagnosed with Autism or Asperger's syndrome. The current study evaluates cognitive functioning in adolescents and adults diagnosed with Autism or Asperger's syndrome using the Wechsler Adult Intelligence Scale-Fourth…

  8. Social Perception and WAIS-IV Performance in Adolescents and Adults Diagnosed with Asperger's Syndrome and Autism

    Science.gov (United States)

    Holdnack, James; Goldstein, Gerald; Drozdick, Lisa

    2011-01-01

    Previous research using the Wechsler scales has identified areas of cognitive weaknesses in children, adolescents, and adults diagnosed with Autism or Asperger's syndrome. The current study evaluates cognitive functioning in adolescents and adults diagnosed with Autism or Asperger's syndrome using the Wechsler Adult Intelligence Scale-Fourth…

  9. Remembering and diagnosing clients: Does experience matter?

    NARCIS (Netherlands)

    Witteman, C.L.M.; Tollenaar, M.S.

    2012-01-01

    Experienced mental health clinicians often do not outperform novices in diagnostic decision making. In this paper we look for an explanation of this phenomenon by testing differences in memory processes. In two studies we aimed to look at differences in accuracy of diagnoses in relation to free reca

  10. Fighting to be heard: contested diagnoses

    NARCIS (Netherlands)

    C. Trundle; I. Singh; C. Bröer

    2014-01-01

    This chapter explores how diagnoses can become sites of contest, rather than of agreement. Conflict can arise when illness refuses to yield the level of proof that epidemiology, clinical medicine, and toxicology require, or its existence is doubted within mainstream medicine. Other forms of contest

  11. How Do Health Care Providers Diagnose Vaginitis?

    Science.gov (United States)

    ... the treatments? Are there complications? Does it affect pregnancy? How is it prevented? NICHD Research Information Clinical Trials Resources and Publications How do health care providers diagnose vaginitis? Skip sharing on social media links Share this: Page Content To find out ...

  12. How Is von Willebrand Disease Diagnosed?

    Science.gov (United States)

    ... may not be diagnosed unless they have heavy bleeding after surgery or some other trauma. On the other hand, ... following the injury. Any prolonged, heavy, or repeated bleeding that required medical care after surgery or dental extractions. Any bruising with little or ...

  13. Diagnosing Febrile Illness in a Returned Traveler

    Centers for Disease Control (CDC) Podcasts

    2012-03-01

    This podcast will assist health care providers in diagnosing febrile illness in patients returning from a tropical or developing country.  Created: 3/1/2012 by National Center for Enteric, Zoonotic, and Infectious Diseases (NCEZID).   Date Released: 3/1/2012.

  14. Eating Disorder Diagnoses: Empirical Approaches to Classification

    Science.gov (United States)

    Wonderlich, Stephen A.; Joiner, Thomas E., Jr.; Keel, Pamela K.; Williamson, Donald A.; Crosby, Ross D.

    2007-01-01

    Decisions about the classification of eating disorders have significant scientific and clinical implications. The eating disorder diagnoses in the Diagnostic and Statistical Manual of Mental Disorders (4th ed.; DSM-IV; American Psychiatric Association, 1994) reflect the collective wisdom of experts in the field but are frequently not supported in…

  15. Bordetella pertussis diagnosed by polymerase chain reaction

    DEFF Research Database (Denmark)

    Birkebaek, N H; Heron, I; Skjødt, K

    1994-01-01

    The object of this work was to test the polymerase chain reaction (PCR) for demonstration of Bordetella pertussis (BP) in nasopharyngeal secretions. The method was applied to patients with recently diagnosed pertussis, as verified by BP culture. In order to test the sensitivity and specificity of...

  16. Appendiceal endometriosis differentially diagnosed from acute appendicitis

    Institute of Scientific and Technical Information of China (English)

    Gastón Astroza; Victor Faundes; René Nanjarí; Marcelo Fleiderman; Carlos Rodriguez

    2010-01-01

    @@ Endometriosis is a common disease in premenopausal women involving pelvic organs specially. However endometriosis that affects the appendix is rarely seen except appendiceal endometriosis that mimics acute appendicitis. In a patient with acute appendicitis we diagnosed and operated on, histopathological examination of the appendix revealed appendiceal endometriosis which caused symptoms.

  17. Two Siblings Diagnosed as Lafora Disease

    Directory of Open Access Journals (Sweden)

    Yasemin Biçer Gömceli

    2010-03-01

    Full Text Available Lafora disease is a typical progressive myoclonic epilepsy that is characterized by autosomal recessive inheritance, myoclonic and occipital seizures, progressive dementia, ataxia, and dysarthria. Two siblings with myoclonic and generalized tonic clonic seizures, progressive dementia, ataxia and dysarthria, who were diagnosed as Lafora disease by sweat gland biopsy, are discussed.

  18. Fighting to be heard: contested diagnoses

    NARCIS (Netherlands)

    Trundle, C.; Singh, I.; Bröer, C.; Goldstein Jutel, A.; Dew, K.

    2014-01-01

    This chapter explores how diagnoses can become sites of contest, rather than of agreement. Conflict can arise when illness refuses to yield the level of proof that epidemiology, clinical medicine, and toxicology require, or its existence is doubted within mainstream medicine. Other forms of contest

  19. Medicinalindustrien har brug for diagnoser som ADHD

    DEFF Research Database (Denmark)

    Fugl, Marie

    2008-01-01

    Det er ikke første gang, at medicinalindustriens evne til at finde nye markeder har medført nye eller bredere diagnoser. I det forrige årti så vi et parallelt forløb mellem et boom i antallet af depressionsdiagnoser og forbruget af lykkepiller. Interview med sociolog Thomas Brante. Udgivelsesdato...

  20. Severe antenatally diagnosed renal disorders: background, prognosis and practical approach.

    Science.gov (United States)

    Aulbert, Wiebke; Kemper, Markus J

    2016-04-01

    Nowadays most renal disorders, especially urinary tract malformations and renal cystic disease, are diagnosed antenatally. In cases of severe bilateral disease, intrauterine renal dysfunction may lead to renal oligohydramnios (ROH), resulting in pulmonary hypoplasia which affects perinatal mortality and morbidity as well as the long-term outcome. However, some infants may only have mild pulmonary and renal disease, and advances in postnatal and dialysis treatment have resulted in improved short- and long-term outcome even in those infants with severe ROH. Here, we review the current state of knowledge and clinical experience of patients presenting antenatally with severe bilateral renal disorders and ROH. By addressing underlying mechanisms, intrauterine tools of diagnosis and treatment as well as published outcome data, we hope to improve antenatal counselling and postnatal care. KEY SUMMARY POINTS: 1. Nowadays most renal disorders are diagnosed antenatally, especially urinary tract malformations and renal cystic disease. 2. Severe kidney dysfunction may lead to renal oligohydramnios, which can cause pulmonary hypoplasia and is a risk factor of perinatal mortality and postnatal renal outcome. However, as considerable clinical heterogeneity is present, outcome predictions need to be treated with caution. 3. Advances in postnatal and dialysis treatment have resulted in improved short- and long-term outcomes even in infants with severe renal oligohydramnios. 4. A multidisciplinary approach with specialist input is required when counselling a family with an ROH-affected fetus as the decision-making process is very challenging.

  1. Family Polymorphism

    DEFF Research Database (Denmark)

    Ernst, Erik

    2001-01-01

    safety and flexibility at the level of multi-object systems. We are granted the flexibility of using different families of kinds of objects, and we are guaranteed the safety of the combination. This paper highlights the inability of traditional polymorphism to handle multiple objects, and presents family...... polymorphism as a way to overcome this problem. Family polymorphism has been implemented in the programming language gbeta, a generalized version of Beta, and the source code of this implementation is available under GPL....

  2. My Family

    Institute of Scientific and Technical Information of China (English)

    2012-01-01

    Everyone has a family.We live in it and feel very warm.There are three persons in my family,my mother,father and I.We live together very happily and there are many interesting stories about my family. My father is a hard-working man.He works as a doctor.He always tries his best to help every,patient and make patients comfortable.But sonetimes he works so hard

  3. Family Polymorphism

    DEFF Research Database (Denmark)

    Ernst, Erik

    2001-01-01

    safety and flexibility at the level of multi-object systems. We are granted the flexibility of using different families of kinds of objects, and we are guaranteed the safety of the combination. This paper highlights the inability of traditional polymorphism to handle multiple objects, and presents family...... polymorphism as a way to overcome this problem. Family polymorphism has been implemented in the programming language gbeta, a generalized version of Beta, and the source code of this implementation is available under GPL....

  4. Tay Sachs and Related Storage Diseases: Family Planning

    Science.gov (United States)

    Schneiderman, Gerald; And Others

    1978-01-01

    Based on interviews with 24 families, the article discusses family planning and the choices available to those families in which a child has previously died from Tay-Sachs or related lipid storage diseases. (IM)

  5. Tay Sachs and Related Storage Diseases: Family Planning

    Science.gov (United States)

    Schneiderman, Gerald; And Others

    1978-01-01

    Based on interviews with 24 families, the article discusses family planning and the choices available to those families in which a child has previously died from Tay-Sachs or related lipid storage diseases. (IM)

  6. Family literacy

    DEFF Research Database (Denmark)

    Sehested, Caroline

    2012-01-01

    I Projekt familielæsning, der er et samarbejde mellem Nationalt Videncenter for Læsning og Hillerød Bibliotek, arbejder vi med at få kontakt til de familier, som biblioteket ellers aldrig ser som brugere og dermed også de børn, der vokser op i familier, for hvem bøger og oplæsningssituationer ikke...... er en selvfølgelig del af barndommen. Det, vi vil undersøge og ønsker at være med til at udvikle hos disse familier, er det, man kan kalde family literacy....

  7. Unexpected finding of T-cell lymphoma in a previously healthy 16-year-old patient after a thorax trauma

    DEFF Research Database (Denmark)

    Bach Okholm-Hansen, Anna; Brorson, Stig

    2014-01-01

    INTRODUCTION: We describe the clinical course and emphasize the difficulties in diagnosing T-cell lymphoblastic lymphoma. The differential diagnostic difficulties have previously been described in regard to pneumonia, but to the best of the authors' knowledge this is the first case report to desc...

  8. Metastatic papillary carcinoma of the thyroid in a patient previously ...

    African Journals Online (AJOL)

    The subject of this presentation is a 50-year-old lady who was diagnosed with ... Keywords: Graves' disease, papillary thyroid carcinoma, radioactive iodine ... de la thyroïde chez un patient traité antérieurement pour la maladie de Basedow.

  9. A Retrospective and Comparative Study of Familial and Non-familial Bullous Lichen Planus

    Institute of Scientific and Technical Information of China (English)

    HUANG Changzheng; YAN Xiaofeng; YANG Lingyun; ZHANG Jing; TIAN Jin; LI Jiawen; WANG Chunsen; TU Yating

    2007-01-01

    In order to compare the clinical characteristics of familial and non-familial bullous lichen planus (BLP), the archival data of 36 BLP patients with positive family history and 21 BLP patients with negative family history diagnosed according to the clinical features and histopathology were collected in our department from 1956 to 2003. The clinical features were analyzed and compared. There were significant differences between familial and non-familial BLP in age of onset, duration of disease and extension of eruption (P<0.01). It was concluded that familial BLP appeared to differ from the non-familial form in its earlier age of onset, longer duration of the disease, more extensive eruption and more tendency to involve nails. Hereditary factors may play a role in the pathogenesis of familial BLP.

  10. Small Families

    Science.gov (United States)

    ... easier for both parents to combine careers with family life. The general stress level is lower because there often are fewer ... can help replace the missing ties. For many families, religious congregational ... such as youth and neighborhood activity centers also can fulfill these ...

  11. FAMILY PLATYSTOMATIDAE.

    Science.gov (United States)

    Wendt, Lisiane Dilli

    2016-06-14

    Platystomatidae (Signal Flies) are one of the largest families of Tephritoidea, with about 1200 species and four subfamilies, worldwide distributed. However, Platystomatidae are not well represented in the New World, and in the Neotropical Region only four genera and 26 species, belonging to Platystomatinae, are recorded. The family is a group understudied in Colombia and only one species is recorded to the country.

  12. How Is Restless Legs Syndrome Diagnosed?

    Science.gov (United States)

    ... With Clinical Trials Links Related Topics Insomnia Sleep Deprivation and Deficiency Sleep Studies Send a link to ... Institute's "Your Guide to Healthy Sleep." Medical and Family Histories Your doctor may ask whether you have ...

  13. Cancer as a complex phenotype: pattern of cancer distribution within and beyond the nuclear family.

    Directory of Open Access Journals (Sweden)

    Laufey T Amundadottir

    2004-12-01

    Full Text Available BACKGROUND: The contribution of low-penetrant susceptibility variants to cancer is not clear. With the aim of searching for genetic factors that contribute to cancer at one or more sites in the body, we have analyzed familial aggregation of cancer in extended families based on all cancer cases diagnosed in Iceland over almost half a century. METHODS AND FINDINGS: We have estimated risk ratios (RRs of cancer for first- and up to fifth-degree relatives both within and between all types of cancers diagnosed in Iceland from 1955 to 2002 by linking patient information from the Icelandic Cancer Registry to an extensive genealogical database, containing all living Icelanders and most of their ancestors since the settlement of Iceland. We evaluated the significance of the familial clustering for each relationship separately, all relationships combined (first- to fifth-degree relatives and for close (first- and second-degree and distant (third- to fifth-degree relatives. Most cancer sites demonstrate a significantly increased RR for the same cancer, beyond the nuclear family. Significantly increased familial clustering between different cancer sites is also documented in both close and distant relatives. Some of these associations have been suggested previously but others not. CONCLUSION: We conclude that genetic factors are involved in the etiology of many cancers and that these factors are in some cases shared by different cancer sites. However, a significantly increased RR conferred upon mates of patients with cancer at some sites indicates that shared environment or nonrandom mating for certain risk factors also play a role in the familial clustering of cancer. Our results indicate that cancer is a complex, often non-site-specific disease for which increased risk extends beyond the nuclear family.

  14. Pregnancy in women suffering from familial hypercholesterolemia: a harmful period for both mother and newborn?

    NARCIS (Netherlands)

    Avis, H.J.; Hutten, B.A.; Twickler, T.B.; Kastelein, J.J.; Post, J.A. van der; Stalenhoef, A.F.H.; Vissers, M.N.

    2009-01-01

    PURPOSE OF REVIEW: The present review aims to highlight the consequences for mother and child of profound hypercholesterolemia during pregnancy of women with familial hypercholesterolemia. RECENT FINDINGS: Familial hypercholesterolemia is increasingly diagnosed in younger patients due to the

  15. Nontropical pyomyositis complicated with spinal epidural abscess in a previously healthy child

    Directory of Open Access Journals (Sweden)

    Mohamed Boulyana

    2014-01-01

    Full Text Available Background: Pyomyositis (PM, a rare pyogenic infection that involves skeletal muscles, if not immediately diagnosed, can be fatal. Most notably, this results in spinal epidural abscess (SEA in typically unhealthy individuals. Case description: We present a very rare nontropical PM complicated with SEA in a previously healthy child revealed by Magnetic resonance imaging (MRI. Our patient recovered without complications 5 years after abscess drainage and antibiotics. Conclusion: PM remains a challenge to clinicians and should be considered in the differential diagnosis of musculoskeletal pain. MRI is the investigation of choice of spinal infection and should be undertaken at an early stage.

  16. Incarcerated Diaphragmatic Hernia – Differential Diagnoses

    OpenAIRE

    Bukvić, Nado; Bosak Veršić, Ana; Bačić, Giordano; Gusić, Nadomir; Nikolić, Harry; Bukvić, Frane

    2014-01-01

    The incarceration of diaphragmatic hernia is very rare. We present a case of a four-year old girl who developed the incarceration of left-sided diaphragmatic hernia, who, until then, was completely asymptomatic. This incarceration of the hernia represented a surgical emergency presenting as obstructive ileus and a severe respiratory distress which developed from what appeared to be full health. During a brief pre-operative examination a number of differential diagnoses were sugges...

  17. Innovative technologies in diagnosing acute otitis media.

    Science.gov (United States)

    Shand, Kate D; Campe, Kristin

    2016-01-01

    New guidelines for managing acute otitis media include stricter criteria for properly diagnosing the condition and ensuring an accurate diagnosis before clinicians make treatment decisions. This is key because of the increase in antibiotic-resistant pathogens. This article focuses on how clinicians can use ancillary techniques and technologies to improve diagnostic accuracy for acute otitis media. Techniques include proper cerumen removal, visualizing the tympanic membrane with the correct otoscope, pneumatic otoscopy, using a spectral gradient acoustic reflectometer, and tympanometry.

  18. 22 CFR 40.91 - Certain aliens previously removed.

    Science.gov (United States)

    2010-04-01

    ... 22 Foreign Relations 1 2010-04-01 2010-04-01 false Certain aliens previously removed. 40.91... IMMIGRANTS UNDER THE IMMIGRATION AND NATIONALITY ACT, AS AMENDED Aliens Previously Removed § 40.91 Certain aliens previously removed. (a) 5-year bar. An alien who has been found inadmissible, whether as a result...

  19. Clinical characteristics and outcome of patients diagnosed with psychogenic nonepileptic seizures: a 5-year review.

    LENUS (Irish Health Repository)

    O'Sullivan, S S

    2012-02-03

    OBJECTIVE: The goal of this article was to describe the clinical characteristics and outcomes of patients diagnosed with psychogenic nonepileptic seizures (PNES). METHODS: We conducted a retrospective review of patients diagnosed with PNES in a 5-year period. RESULTS: Fifty patients with PNES were identified, giving an estimated incidence of 0.91\\/100,000 per annum. Thirty-eight were included for review, 15 of whom were male (39%). Eighteen patients had been diagnosed with epilepsy as well as PNES (47%). We demonstrated a gender difference in our patients, with males having higher seizure frequencies, more antiepileptic drug use, and a longer interval before diagnosis of PNES. Females were diagnosed with other conversion disorders more often than males. Impaired social function was observed in PNES, as was resistance to psychological interventions with a subsequent poor response to treatments. CONCLUSIONS: PNES remains a difficult condition to treat, and may affect males in proportions higher than those described in previous studies.

  20. Fuzzy expert system for diagnosing diabetic neuropathy.

    Science.gov (United States)

    Rahmani Katigari, Meysam; Ayatollahi, Haleh; Malek, Mojtaba; Kamkar Haghighi, Mehran

    2017-02-15

    To design a fuzzy expert system to help detect and diagnose the severity of diabetic neuropathy. The research was completed in 2014 and consisted of two main phases. In the first phase, the diagnostic parameters were determined based on the literature review and by investigating specialists' perspectives (n = 8). In the second phase, 244 medical records related to the patients who were visited in an endocrinology and metabolism research centre during the first six months of 2014 and were primarily diagnosed with diabetic neuropathy, were used to test the sensitivity, specificity, and accuracy of the fuzzy expert system. The final diagnostic parameters included the duration of diabetes, the score of a symptom examination based on the Michigan questionnaire, the score of a sign examination based on the Michigan questionnaire, the glycolysis haemoglobin level, fasting blood sugar, blood creatinine, and albuminuria. The output variable was the severity of diabetic neuropathy which was shown as a number between zero and 10, had been divided into four categories: absence of the disease, (the degree of severity) mild, moderate, and severe. The interface of the system was designed by ASP.Net (Active Server Pages Network Enabled Technology) and the system function was tested in terms of sensitivity (true positive rate) (89%), specificity (true negative rate) (98%), and accuracy (a proportion of true results, both positive and negative) (93%). The system designed in this study can help specialists and general practitioners to diagnose the disease more quickly to improve the quality of care for patients.

  1. Test Differences in Diagnosing Reading Comprehension Deficits

    Science.gov (United States)

    Keenan, Janice M.; Meenan, Chelsea E.

    2012-01-01

    We examined the implications of test differences for defining and diagnosing comprehension deficits using reading comprehension tests. We had 995 children complete the Gray Oral Reading Test-3, the Qualitative Reading Inventory-3, the Woodcock-Johnson Passage Comprehension-3, and the Peabody Individual Achievement Test, and compared which children were identified by each test as being in the lowest 10%. Although a child who performs so poorly might be expected to do poorly on all tests, we found that the average overlap between tests in diagnosing comprehension difficulties was only 43%. Consistency in diagnosis was greater for younger children, when comprehension deficits are due to weaker decoding skills, than for older children. Inconsistencies between tests were just as evident when identifying the top performers. The different children identified as having a comprehension deficit by each test were compared on four profile variables - word decoding skill, IQ, ADHD symptoms, and working memory skill – to understand the nature of the different deficits assessed by each test. Theoretical and practical implications of these test differences in defining and diagnosing comprehension deficits are discussed. PMID:22442251

  2. Pulmonary Artery Leiomyosarcoma Diagnosed without Delay

    Directory of Open Access Journals (Sweden)

    Motohisa Yamasaki

    2011-05-01

    Full Text Available A 63-year-old female presented with abnormal lung shadows but had, apart from this, few symptoms. Computed tomography (CT revealed multiple nodules and blockage of the pulmonary artery. She was immediately diagnosed with pulmonary artery sarcoma based on a careful differential diagnosis and underwent surgery. Her tumor was pathologically diagnosed as leiomyosarcoma (i.e. intimal sarcoma. Pulmonary artery sarcoma can be easily confounded with thromboembolism in a clinical setting and some cases are diagnosed post mortem only. In our case, clinical prediction scores (Wells score, Geneva score, and revised Geneva score for the pulmonary embolism showed low probability. Moreover, chest CT showed uncommon findings for pulmonary thromboembolism, as the nodules were too big for thrombi. Because surgical resection can provide the only hope of long-term survival in cases of pulmonary artery sarcoma, clinicians should consider this possibility in the differential diagnosis of pulmonary embolism. Clinical prediction scores and CT findings might help to reach the correct diagnosis of pulmonary artery sarcoma.

  3. Clinical features and linkage analysis for a Chinese family with autosomal dominant central areolar choroidal dystrophy

    Institute of Scientific and Technical Information of China (English)

    MA Kai; LIU Ning-pu; YANG Xiu-fen; HAN Cui; ZHANG Ning; XU Jun; LIU Shou-bin; LU Hal; Torkel Snellingen; WANG Ning-li

    2009-01-01

    Background A Chinese family with autosomal dominant central areolar choroidal dystrophy (CACD) was identified.The purpose of this study was to collect the clinical findings from the family and to identify the genetic entity by linkage nalysis.Methods Forty-three individuals from 3 generations of the family underwent ophthalmologic examinations, including best-corrected visual acuity, examination of the anterior segments, and inspection of the ocular fundus after pharmacologic mydriasis. Affected family members further underwent color vision test, color fundus photography,fluorescein angiography, automated perimetry, and electroretinography. The family was followed up for 30 months.Peripheral venous blood or buccal swabs were collected from each family member and genomic DNA was extracted.Linkage analysis was performed for candidate genes or loci using microsatellite markers.Results Seven family members in 3 continuous generations were diagnosed as having autosomal dominant CACD.The family showed progressive development of the disease, affecting both male and female. Age of onset of visual disturbances varied between 11 and 50 years. Phenotypic variability among affected individuals was apparent and ranged from relatively normal-appearing fundus with mild parafoveal pigment mottling to geographic atrophy of the macula. Fluorescein angiography showed hyperfluorescent parafoveal changes in early stage or well-demarcated area of chorioretinal atrophy with enhanced visibility of the residual underlying choroidal vessels in the late stage. Peripheral retina and visual fields were normal in affected individuals. Electroretinogram showed normal or mild reduction in the photopic amplitude. Eight candidate genes (STGD4, RCD1, peripherin/RDS, GUCA1A, RIMS1, UNC119, GUC Y2D, and AIPL1) and two genetic loci (4p15.2-16.3, and 17p13) were excluded to be responsible for the disease by linkage analysis.Conclusions The clinical findings of this Chinese family with CACD shared

  4. Use of Endoscopic Ultrasound in Diagnosing Plasmacytoma of the Pancreas

    Directory of Open Access Journals (Sweden)

    Milos Miljkovic

    2012-01-01

    Full Text Available Context An extramedullary plasmacytoma is a discrete collection of monoclonal plasmocytes arising in tissues other than the bone. Gastrointestinal involvement has been reported in approximately 10% of cases and usually involves the liver; however, there have been a number of cases involving the pancreas. Discussion Although helical CT can be used to diagnose pancreatic plasmacytomas based on a typical radiological appearance, there are a number of pitfalls with CT including similar radiologic appearances of other pancreatic tumors, malignant seeding induced by CT biopsy, and creation of multiple secondary plasmacytomas precipitated by CT biopsy. Tissue diagnosis is critical to management in pancreatic lesions as the decision to pursue surgery (pancreatic adenocarcinoma versus chemotherapy (lymphoma or radiation (extramedullary plasmacytoma is dependent on a correct tissue diagnosis. Tissue diagnosis can change morbidity and mortality with respect to specific treatment of pancreatic lesions in the milieu of pancreatic tumor variance. In the confirmed tissue diagnosis of pancreatic plasmacytoma, radiation and chemotherapy can be preferentially chosen over high risk surgery. EUS-FNA has a lower risk of malignant seeding, complications, and a high sensitivity in the diagnosis of pancreatic plasmacytomas, especially with an increased number of passes and bedside cytopathologists. Conclusion It is important for physicians to have a high index of suspicion for diagnosing pancreatic plasmacytomas in the appropriate clinical setting (i.e., a previously diagnosed multiple myeloma, extramedullary plasmacytoma or any other plasma cell neoplasm. EUS-FNA is now an indispensable imaging modality to achieve the diagnosis of pancreatic extramedullary plasmacytomas with an inherently lower rate of complications, and should be the first choice for tissue evaluation.

  5. Familial aggregation of childhood and adult cancer in the Utah genealogy.

    Science.gov (United States)

    Neale, Rachel E; Stiller, Charles A; Bunch, Kathryn J; Milne, Elizabeth; Mineau, Geraldine P; Murphy, Michael F G

    2013-12-15

    A small proportion of childhood cancer is attributable to known hereditary syndromes, but whether there is any familial component to the remainder remains uncertain. We explored familial aggregation of cancer in a population-based case-control study using genealogical record linkage and designed to overcome limitations of previous studies. Subjects were selected from the Utah Population Database. We compared risk of cancer in adult first-degree relatives of children who were diagnosed with cancer with the risk in relatives of children who had not had a cancer diagnosed. We identified 1,894 childhood cancer cases and 3,788 controls; 7,467 relatives of cases and 14,498 relatives of controls were included in the analysis. Relatives of children with cancer had a higher risk of cancer in adulthood than relatives of children without cancer [odds ratio (OR) 1.31, 95% confidence interval (CI) 1.11-1.56]; this was restricted to mothers and siblings and was not evident in fathers. Familial aggregation appeared stronger among relatives of cases diagnosed before 5 years of age (OR 1.48, 95% CI 1.13-1.95) than among relatives of cases who were older when diagnosed (OR 1.22, 95% CI 0.98-1.51). These findings provide evidence of a generalized excess of cancer in the mothers and siblings of children with cancer. The tendency for risk to be higher in the relatives of children who were younger at cancer diagnosis should be investigated in other large data sets. The excesses of thyroid cancer in parents of children with cancer and of any cancer in relatives of children with leukemia merit further investigation.

  6. [Microalbuminuria in pediatric patients diagnosed with hemolytic uremic syndrome].

    Science.gov (United States)

    Cubillos C, María Paz; Del Salas, Paulina; Zambrano, Pedro O

    2015-01-01

    Hemolytic uremic syndrome (HUS) is characterized by the presence of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney failure. It is the leading cause of acute kidney failure in children under 3 years of age. A variable number of patients develop proteinuria, hypertension, and chronic renal failure. To evaluate the renal involvement in pediatric patients diagnosed with HUS using the microalbumin/creatinine ratio. Descriptive concurrent cohort study that analyzed the presence of microalbuminuria in patients diagnosed with HUS between January 2001 and March 2012, who evolved without hypertension and normal renal function (clearance greater than 90ml/min using Schwartz formula). Demographic factors (age, sex), clinical presentation at time of diagnosis, use of antibiotics prior to admission, and need for renal replacement therapy were evaluated. Of the 24 patients studied, 54% were male. The mean age at diagnosis was two years. Peritoneal dialysis was required in 45%, and 33% developed persistent microalbuminuria. Antiproteinuric treatment was introduce in 4 patients, with good response. The mean follow-up was 6 years (range 6 months to 11 years). The serum creatinine returned to normal in all patients during follow up. The percentage of persistent microalbuminuria found in patients with a previous diagnosis of HUS was similar in our group to that described in the literature. Antiproteinuric treatment could delay kidney damage, but further multicenter prospective studies are necessary. Copyright © 2015. Publicado por Elsevier España, S.L.U.

  7. Evaluation of the incidence and outcome of gestational diabetes mellitus using the current international consensus guidelines for diagnosing hyperglycaemia in pregnancy

    Directory of Open Access Journals (Sweden)

    Vinod G. Nair

    2016-10-01

    Results: A total of 856 Antenatal patients were screened and 111 were diagnosed as GDM, showing an incidence of 13%. Medical Nutritional Therapy was found to be an effective method for glycaemic control in GDM. Conclusions: The incidence of GDM in the studied population was found to be 13%. Previous history of GDM was found to be the most significant high risk factor associated with GDM followed by family history of Diabetes. Medical Nutritional Therapy was found to be highly effective in the management of GDM. Only 9% of GDM patients required insulin therapy. With adequate glycaemic control, all late pregnancy complications and neonatal complications can be alleviated. [Int J Reprod Contracept Obstet Gynecol 2016; 5(10.000: 3361-3366

  8. Family Disruptions

    Science.gov (United States)

    ... stay angry, or avoid fights altogether? Your children model themselves on you. Departures and Returns Do you or your spouse frequently travel on business? These can be disruptive times for your child and for the family ...

  9. Familial hypercholesterolemia

    Science.gov (United States)

    ... hypercholesterolemia or early heart attacks High level of LDL cholesterol in either or both parents People from families ... called fibroblasts to see how the body absorbs LDL cholesterol Genetic test for the defect associated with this ...

  10. High prevalence of genetic variants previously associated with LQT syndrome in new exome data

    DEFF Research Database (Denmark)

    Refsgaard, Lena; Holst, Anders G; Sadjadieh, Golnaz

    2012-01-01

    variants KCNH2 P347S; SCN5A: S216L, V1951L; and CAV3 T78M in the control population (n=704) revealed prevalences comparable to those of ESP. Thus, we identified a much higher prevalence of previously LQTS-associated variants than expected in exome data from population studies. Great caution regarding...... the possible disease causation of some of these variants has to be taken, especially when used for risk stratification in family members....

  11. Nursing diagnoses in adult/elderly patients undergoing outpatient antineoplastic chemotherapy: a review.

    Science.gov (United States)

    Jomar, Rafael Tavares; Gomes, Rebeca Anselmo Furtado; Leite, Dayana Carvalho; Gomes, Helena Ferraz; Peres, Ellen Marcia; Junior, Eugenio Fuentes Perez

    2017-01-01

    To search in the scientific literature for nursing diagnoses identified in adult/elderly patients undergoing antineoplastic chemotherapy in an outpatient setting. Review of studies published in Portuguese, English, or Spanish which were searched in five electronic databases in March 2016, using the descriptors nursing process, nursing diagnosis, neoplasms, drug therapy and hospital outpatient clinic. In the four studies selected for review, 40 nursing diagnoses were identified, namely unbalanced nutrition, less than body requirements, risk of deficient fluid volume, diarrhoea, fatigue, impaired home maintenance, deficient knowledge, disturbed body image, interrupted family processes, ineffective sexuality pattern, anxiety, powerlessness, fear, readiness for enhanced religiosity, risk of infection, impaired dentition, risk of impaired skin integrity, acute pain, and nausea. The nursing diagnoses identified can support the selection of interventions and the creation of nursing guidelines in outpatient oncology services.

  12. Survival after early-stage breast cancer of women previously treated for depression

    DEFF Research Database (Denmark)

    Suppli, Nis Frederik Palm; Johansen, Christoffer; Kessing, Lars Vedel

    2017-01-01

    Purpose The aim of this nationwide, register-based cohort study was to determine whether women treated for depression before primary early-stage breast cancer are at increased risk for receiving treatment that is not in accordance with national guidelines and for poorer survival. Material...... and Methods We identified 45,325 women with early breast cancer diagnosed in Denmark from 1998 to 2011. Of these, 744 women (2%) had had a previous hospital contact (as an inpatient or outpatient) for depression and another 6,068 (13%) had been treated with antidepressants. Associations between previous...... treatment of depression and risk of receiving nonguideline treatment of breast cancer were assessed in multivariable logistic regression analyses. We compared the overall survival, breast cancer-specific survival, and risk of death by suicide of women who were and were not treated for depression before...

  13. Intersession Telephone Contact with Individuals Diagnosed with Borderline Personality Disorder: Lessons from Dialectical Behavior Therapy

    Science.gov (United States)

    Ben-Porath, Denise D.

    2004-01-01

    Therapists often struggle with managing intersession contact with clients diagnosed with borderline personality disorder, particularly when dangerous and life-threatening symptoms are communicated (Gunderson, 1996). Difficulties have arisen, in part, because previous phone contacts with this population have failed to recognize the importance of…

  14. Selecting clinical diagnoses: logical strategies informed by experience.

    Science.gov (United States)

    Stanley, Donald Edward; Campos, Daniel G

    2016-08-01

    This article describes reasoning strategies used by clinicians in different diagnostic circumstances and how these modes of inquiry may allow further insight into the evaluation and treatment of patients. Specifically, it aims to make explicit the implicit logical considerations that guide a variety of strategies in the diagnostic process, as exemplified in specific clinical cases. It focuses, in particular, in strategies that clinicians use to move from a large set of possible diagnoses initially suggested by abductive inferences - the process of hypothesis generation that creates a diagnostic space - to a narrower set or even to a single 'best' diagnosis, where the criteria to determine what is 'best' may differ according to different strategies. Experienced clinicians should have a diversified kit of strategies - for example, Bayesian probability or inference to a lovely explanation - to select from among previously generated hypotheses, rather than rely on any one approach every time.

  15. CIN III Diagnosed following Surgical Termination of Pregnancy

    Directory of Open Access Journals (Sweden)

    Ciara Mackenzie

    2014-01-01

    Full Text Available We present a case of a 30-year-old mother of four who was incidentally diagnosed with cervical intraepithelial neoplasia (CIN III following surgical termination of pregnancy. Five years previously a routine smear test had shown mild dyskaryosis but was never repeated. She was referred to colposcopy and, underwent loop excision of the transformation zone (LLETZ and subsequently vaginal hysterectomy. Without this incidental finding she would have undoubtedly developed cervical cancer. We discuss the deficiencies in current cervical cancer prevention strategies and termination of pregnancy services. We emphasise the importance of ensuring that patients with dyskaryosis are not lost to follow-up and we consider whether there should be clearer guidance on the value of histological examination of products of conception following termination of pregnancy.

  16. Qualimeyric Approach to Diagnosing the Competences of University Graduates

    Directory of Open Access Journals (Sweden)

    O. F. Shikhova

    2015-03-01

    Full Text Available The paper considers the implementation of the qualimetric approach, particularly - the group expert estimation method, for specifying the graduates’ actual competences in compliance with the federal state educational standards; allocation of groups and subgroups of the given competences; and pedagogic expertise of the competence oriented estimation means. The authors maintain that the above method is the most perspective, objective and standardized one among the existing diagnostic methods. The pedagogic expertise is carried out according to the prescribed algorithms by a group of previously selected experts, their competences, coordination and number guaranteeing the admissible error margin and value relevance level. The algorithm of complex attestation tasks development is designed for diagnosing the bachelors’ readiness for professional activity in technological profile. 

  17. Qualimeyric Approach to Diagnosing the Competences of University Graduates

    Directory of Open Access Journals (Sweden)

    O. F. Shikhova

    2013-01-01

    Full Text Available The paper considers the implementation of the qualimetric approach, particularly - the group expert estimation method, for specifying the graduates’ actual competences in compliance with the federal state educational standards; allocation of groups and subgroups of the given competences; and pedagogic expertise of the competence oriented estimation means. The authors maintain that the above method is the most perspective, objective and standardized one among the existing diagnostic methods. The pedagogic expertise is carried out according to the prescribed algorithms by a group of previously selected experts, their competences, coordination and number guaranteeing the admissible error margin and value relevance level. The algorithm of complex attestation tasks development is designed for diagnosing the bachelors’ readiness for professional activity in technological profile. 

  18. Diagnoses and nursing Interventions in hypertensive and diabetic individuals according to Orem’s Theory

    Directory of Open Access Journals (Sweden)

    Priscila Camara de Moura

    2015-02-01

    Full Text Available This study aimed to identify the most prevalent nursing diagnoses in hypertensive and diabetic patients in the Family Health Care Unit, according to Orem’s conceptual model. A descriptive study was conducted from April to November 2013, using a nursing assessment based on Orem’s theory and NANDA-I taxonomy. 16 nursing diagnoses were identified on Universal self-care requisites, nine on Health deviation requisites and two on Developmental self-care requisites, the most prevalent being: “Risk for unstable blood glucose level” (60%, “Ineffective self-care management” (50% and “Disposition for improved knowledge” (36.6%. Teaching (83.3% and support/instruction (100% actions were implemented in nursing care planning. It can be concluded that there is a need to implement nursing activities directed to offering education on Family Health practices.

  19. Families in the Military

    Science.gov (United States)

    ... Contents Facts For Families Guide - View by Topic Chinese Facts for Families Guide Facts For Families Guide - Search Spanish Facts for Families Guide Facts for Families - Vietnamese Military Families No. 88; updated March 2017 Global conflict ...

  20. Characteristics of Fathers in Incest Families.

    Science.gov (United States)

    Hanson, Rochelle; And Others

    1994-01-01

    Assesses whether differences in family functioning and psychological adjustment are related to a previous history of child sexual abuse (CSA) in perpetrators. Childhood trauma history appears to be related to more chaotic families of origin, but not to functioning within the family of procreation, personality profiles, or self-reported…

  1. Fuzzy expert system for diagnosing diabetic neuropathy

    Science.gov (United States)

    Rahmani Katigari, Meysam; Ayatollahi, Haleh; Malek, Mojtaba; Kamkar Haghighi, Mehran

    2017-01-01

    AIM To design a fuzzy expert system to help detect and diagnose the severity of diabetic neuropathy. METHODS The research was completed in 2014 and consisted of two main phases. In the first phase, the diagnostic parameters were determined based on the literature review and by investigating specialists’ perspectives (n = 8). In the second phase, 244 medical records related to the patients who were visited in an endocrinology and metabolism research centre during the first six months of 2014 and were primarily diagnosed with diabetic neuropathy, were used to test the sensitivity, specificity, and accuracy of the fuzzy expert system. RESULTS The final diagnostic parameters included the duration of diabetes, the score of a symptom examination based on the Michigan questionnaire, the score of a sign examination based on the Michigan questionnaire, the glycolysis haemoglobin level, fasting blood sugar, blood creatinine, and albuminuria. The output variable was the severity of diabetic neuropathy which was shown as a number between zero and 10, had been divided into four categories: absence of the disease, (the degree of severity) mild, moderate, and severe. The interface of the system was designed by ASP.Net (Active Server Pages Network Enabled Technology) and the system function was tested in terms of sensitivity (true positive rate) (89%), specificity (true negative rate) (98%), and accuracy (a proportion of true results, both positive and negative) (93%). CONCLUSION The system designed in this study can help specialists and general practitioners to diagnose the disease more quickly to improve the quality of care for patients. PMID:28265346

  2. Best waveform score for diagnosing keratoconus

    Directory of Open Access Journals (Sweden)

    Allan Luz

    2013-12-01

    Full Text Available PURPOSE: To test whether corneal hysteresis (CH and corneal resistance factor (CRF can discriminate between keratoconus and normal eyes and to evaluate whether the averages of two consecutive measurements perform differently from the one with the best waveform score (WS for diagnosing keratoconus. METHODS: ORA measurements for one eye per individual were selected randomly from 53 normal patients and from 27 patients with keratoconus. Two groups were considered the average (CH-Avg, CRF-Avg and best waveform score (CH-WS, CRF-WS groups. The Mann-Whitney U-test was used to evaluate whether the variables had similar distributions in the Normal and Keratoconus groups. Receiver operating characteristics (ROC curves were calculated for each parameter to assess the efficacy for diagnosing keratoconus and the same obtained for each variable were compared pairwise using the Hanley-McNeil test. RESULTS: The CH-Avg, CRF-Avg, CH-WS and CRF-WS differed significantly between the normal and keratoconus groups (p<0.001. The areas under the ROC curve (AUROC for CH-Avg, CRF-Avg, CH-WS, and CRF-WS were 0.824, 0.873, 0.891, and 0.931, respectively. CH-WS and CRF-WS had significantly better AUROCs than CH-Avg and CRF-Avg, respectively (p=0.001 and 0.002. CONCLUSION: The analysis of the biomechanical properties of the cornea through the ORA method has proved to be an important aid in the diagnosis of keratoconus, regardless of the method used. The best waveform score (WS measurements were superior to the average of consecutive ORA measurements for diagnosing keratoconus.

  3. Associations between Family Environment, Parenting Practices, and Executive Functioning of Children with and without ADHD

    Science.gov (United States)

    Schroeder, Valarie M.; Kelley, Michelle L.

    2009-01-01

    We examined the relationships between executive functioning, family environment, and parenting practices in children diagnosed with ADHD as compared to children without ADHD. Participants were parents (N = 134) of 6- to 12-year-old ADHD and non-ADHD-diagnosed children. Compared to the control group, parents of children diagnosed with ADHD reported…

  4. Diagnosing Functional Seizures in Children and Adolescent

    DEFF Research Database (Denmark)

    Wichaidit, Bianca Taaning; Rask, Charlotte Ulrikka; Ostergaard, John R

    2014-01-01

    Functional seizures (FS) is a condition where the child experiences seizure-like events, without abnormal electrical discharge as measured by EEG, and with high risk of misdiagnosis. Diagnosing FS contains: 1) video-EEG, 2) anamnestic evaluation, focusing on the presence of psychosocial stressors......, psychiatric co-morbidity and functional symptoms other than FS, and 3) evaluation of seizure characteristics such as long duration, seizure initiation during wakefulness and in the presence of witnesses asynchronous movements, and no incontinence, tongue bite and injury related to the event....

  5. Diagnosing patients with longstanding shoulder joint pain

    DEFF Research Database (Denmark)

    Nørregaard, J; Krogsgaard, M R; Lorenzen, T

    2002-01-01

    lesion also showed poor agreement. Pain during muscle contraction showed moderate agreement. The agreement of clinical diagnoses was poor and the accuracy was low in comparison with arthroscopy. Ultrasonography was accurate in full thickness supraspinatus tendon tears, but inaccurate for partial tears...... were "blindly" examined by two trained doctors using several clinical tests. In all patients an ultrasonographic examination was performed, and in 42 (49%) an arthroscopy. RESULTS: Tests for impingement showed poor to moderate agreement. Tenderness of muscles, muscle weakness, and tests for labral...

  6. Neuroimaging differential diagnoses to abusive head trauma

    Energy Technology Data Exchange (ETDEWEB)

    Girard, Nadine [AP-HM Timone 2, Department of Neuroradiology, Marseille cedex 05 (France); Aix Marseille University, UMR CNRS 7339, Marseille (France); Brunel, Herve; Dory-Lautrec, Philippe [AP-HM Timone 2, Department of Neuroradiology, Marseille cedex 05 (France); Chabrol, Brigitte [AP-HM Timone, Department of Pediatric Neurology, Marseille (France)

    2016-05-15

    Trauma is the most common cause of death in childhood, and abusive head trauma is the most common cause of traumatic death and morbidity in infants younger than 1 year. The main differential diagnosis of abusive head trauma is accidental traumatic brain injury, which is usually witnessed. This paper also discusses more uncommon diagnoses such as congenital and acquired disorders of hemostasis, cerebral arteriovenous malformations and metabolic diseases, all of which are extremely rare. Diagnostic imaging including CT and MRI is very important for the distinction of non-accidental from accidental traumatic injury. (orig.)

  7. Patient specific modelling in diagnosing depression

    DEFF Research Database (Denmark)

    Ottesen, Johnny T.

    2015-01-01

    Depression is a very common disease. Approximately 10% of people in the Western world experience severe depression during their lifetime and many more experience a mild form of depression. It is commonly believed that depression is caused by malfunctions in the biological system constituted...... diagnoses more precise and to offer individual treatment plans and drug design. Efficient and reliable methods for parameter estimation are crucial. Presently we are investigating how well the Metropolis-Hastings Algorithm of the Bayesian Markov Chain Monte Carlo (MCMC) method for estimating the parameters...

  8. Trisomy 9 Mosaicism Diagnosed In Utero

    Directory of Open Access Journals (Sweden)

    Hironori Takahashi

    2010-01-01

    Full Text Available We present three cases of trisomy 9 mosaicism diagnosed by amniocentesis with ongoing pregnancies after referral to our center due to fetal abnormalities. Two cases were associated with severe fetal growth restriction (FGR, each of which resulted in an intrauterine fetal demise (IUFD in the third trimester. The other case involved mild FGR with a congenital diaphragmatic hernia and resulted in a live birth with severe development delay. A major prenatal finding of trisomy 9 mosaicism is FGR. Fetuses with trisomy 9 mosaicism can rarely survive in the case of severe FGR.

  9. Variations in the Role of Social Support on Disclosure Among Newly Diagnosed HIV-Infected People Who Inject Drugs in Vietnam.

    Science.gov (United States)

    Go, Vivian F; Latkin, Carl; Le Minh, Nguyen; Frangakis, Constantine; Ha, Tran Viet; Sripaipan, Teerada; Mo, Tran Thi; Davis, Wendy W; Vu, Pham The; Quan, Vu Minh

    2016-01-01

    Stigma and perceived social support can influence the decision to disclose HIV positive status, especially for people who inject drugs (PWID). In this analysis, the association between social support and HIV disclosure among 336 newly diagnosed HIV-infected PWID in Northern Vietnam was assessed. One month after diagnosis, 34.8 % of participants had not disclosed to anyone. Disclosure to anyone and to a family member specifically, was associated with baseline social support in the form of positive interactions and a history of incarceration. Disclosing to a family member was less likely among those who had unprotected sex in the previous 3 months. Disclosure to an injecting partner was more likely among those with a history of being in a drug treatment program, knowing someone on ART and believing that ART is safe. These data suggest that social support may facilitate disclosure among family members, including spouses, while disclosure to injecting partners is greater when PWID know that ART is a safe and viable option.

  10. Cancer patients' use of family practice and secondary care

    DEFF Research Database (Denmark)

    Sokolowski, Ineta; Kjeldgaard, Anette Hvenegaard; Olesen, Frede

    Aims: We know that in Denmark some 90% of citizens have contact with family practice (FP) during a year and around 40% has contact with secondary care.  This demands efforts to create integrated and shared care. The aim of this study is to document the pattern of contacts with FP among patients...... population b) about 33,000 patients diagnosed with cancer in 2007, and c) about 220,000 patients living with a previous diagnosis of cancer.        Results: Data for the total population is known. The total number of contacts with FP in daytime is about 38.4 million, with out of hours service about 2...

  11. Disability and Comorbidity: Diagnoses and Symptoms Associated with Disability in a Clinical Population with Panic Disorder

    Directory of Open Access Journals (Sweden)

    Caroline A. Bonham

    2014-01-01

    Full Text Available Background. Anxiety disorders are associated with considerable disability in the domains of (1 work, (2 social, and (3 family and home interactions. Psychiatric comorbidity is also known to be associated with disability. Methods. Data from the Cross-National Collaborative Panic Study was used to identify rates of comorbid diagnoses, anxiety and depression symptom ratings, and Sheehan disability scale ratings from a clinical sample of 1165 adults with panic disorder. Results. Comorbid diagnoses of agoraphobia, major depression, and social phobia were associated with disability across the three domains of work, social, and family and home interactions. The symptom of agoraphobic avoidance makes the largest contribution to disability but there is no single symptom cluster that entirely predicts impairment and disability. Limitations. The findings about the relative contributions that comorbid diagnoses make to disability only apply to a population with panic disorder. Conclusions. Although panic disorder is not generally considered to be among the serious and persistent mental illnesses, when it is comorbid with other diagnoses, it is associated with considerable impairment. In particular, the presence of agoraphobic avoidance should alert the clinician to the likelihood of important functional impairment. When measuring the functional impact of comorbid anxiety disorders, both the categorical and the dimensional approaches to diagnosis make valuable contributions.

  12. The Familial Intracranial Aneurysm (FIA study protocol

    Directory of Open Access Journals (Sweden)

    Meissner Irene

    2005-04-01

    Full Text Available Abstract Background Subarachnoid hemorrhage (SAH due to ruptured intracranial aneurysms (IAs occurs in about 20,000 people per year in the U.S. annually and nearly half of the affected persons are dead within the first 30 days. Survivors of ruptured IAs are often left with substantial disability. Thus, primary prevention of aneurysm formation and rupture is of paramount importance. Prior studies indicate that genetic factors are important in the formation and rupture of IAs. The long-term goal of the Familial Intracranial Aneurysm (FIA Study is to identify genes that underlie the development and rupture of intracranial aneurysms (IA. Methods/Design The FIA Study includes 26 clinical centers which have extensive experience in the clinical management and imaging of intracerebral aneurysms. 475 families with affected sib pairs or with multiple affected relatives will be enrolled through retrospective and prospective screening of potential subjects with an IA. After giving informed consent, the proband or their spokesperson invites other family members to participate. Each participant is interviewed using a standardized questionnaire which covers medical history, social history and demographic information. In addition blood is drawn from each participant for DNA isolation and immortalization of lymphocytes. High- risk family members without a previously diagnosed IA undergo magnetic resonance angiography (MRA to identify asymptomatic unruptured aneurysms. A 10 cM genome screen will be performed to identify FIA susceptibility loci. Due to the significant mortality of affected individuals, novel approaches are employed to reconstruct the genotype of critical deceased individuals. These include the intensive recruitment of the spouse and children of deceased, affected individuals. Discussion A successful, adequately-powered genetic linkage study of IA is challenging given the very high, early mortality of ruptured IA. Design features in the FIA Study

  13. Prevalence of nursing diagnoses of breastfeeding in the mother-infant dyad in basic health unit

    OpenAIRE

    Ocilia Maria Costa Carvalho; Karolina Rodrigues Silva; Lívia Zulmyra Cintra Andrade; Viviane Martins da Silva; Marcos Venícios de Oliveira Lopes

    2014-01-01

    A cross-sectional study conducted with 28 mother-infant dyads, users of a Family Health Center of Fortaleza-CE, Brazil, that aimed to identify the nursing diagnoses of breastfeeding, their frequency of occurrence, defining characteristics, and the value of maternal confidence based on the breastfeeding self-efficacy scale. Data collection happened during September and October 2010, using interviews, anamnesis, and physical examination of the dyad. The most prevalent diagnosis was Effective br...

  14. Familial idiopathic normal pressure hydrocephalus.

    Science.gov (United States)

    Huovinen, Joel; Kastinen, Sami; Komulainen, Simo; Oinas, Minna; Avellan, Cecilia; Frantzen, Janek; Rinne, Jaakko; Ronkainen, Antti; Kauppinen, Mikko; Lönnrot, Kimmo; Perola, Markus; Pyykkö, Okko T; Koivisto, Anne M; Remes, Anne M; Soininen, Hilkka; Hiltunen, Mikko; Helisalmi, Seppo; Kurki, Mitja; Jääskeläinen, Juha E; Leinonen, Ville

    2016-09-15

    Idiopathic normal pressure hydrocephalus (iNPH) is a late-onset surgically alleviated, progressive disease. We characterize a potential familial subgroup of iNPH in a nation-wide Finnish cohort of 375 shunt-operated iNPH-patients. The patients were questionnaired and phone-interviewed, whether they have relatives with either diagnosed iNPH or disease-related symptomatology. Then pedigrees of all families with more than one iNPH-case were drawn. Eighteen patients (4.8%) from 12 separate pedigrees had at least one shunt-operated relative whereas 42 patients (11%) had relatives with two or more triad symptoms. According to multivariate logistic regression analysis, familial iNPH-patients had up to 3-fold risk of clinical dementia compared to sporadic iNPH patients. This risk was independent from diagnosed Alzheimer's disease and APOE ε4 genotype. This study describes a familial entity of iNPH offering a novel approach to discover the potential genetic characteristics of iNPH. Discovered pedigrees offer an intriguing opportunity to conduct longitudinal studies targeting potential preclinical signs of iNPH. Copyright © 2016 Elsevier B.V. All rights reserved.

  15. Family History, Diabetes, and Other Demographic and Risk Factors Among Participants of the National Health and Nutrition Examination Survey 1999–2002

    Directory of Open Access Journals (Sweden)

    Debra Duquette, MS, CGC

    2005-03-01

    Full Text Available Introduction Family history of diabetes has been recognized as an important risk factor of the disease. Family medical history represents valuable genomic information because it characterizes the combined interactions between environmental, behavioral, and genetic factors. This study examined the strength and effect of having a family history of diabetes on the prevalence of self-reported, previously diagnosed diabetes among adult participants of the National Health and Nutrition Examination Survey 1999–2002. Methods The study population included data from 10,283 participants aged 20 years and older. Gender, age, race/ethnicity, poverty income ratio, education level, body mass index, and family history of diabetes were examined in relation to diabetes status. Diabetes prevalence estimates and odds ratios of diabetes were calculated based on family history and other factors. Results The prevalence of diabetes among individuals who have a first-degree relative with diabetes (14.3% was significantly higher than that of individuals without a family history (3.2%, corresponding to a crude odds ratio of five. Both prevalence and odds ratio estimates significantly increased with the number of relatives affected with diabetes. Family history was also associated with several demographic and risk factors. Conclusion Family history of diabetes was shown to be a significant predictor of diabetes prevalence in the adult U.S. population. We advocate the inclusion of family history assessment in public health prevention and screening programs as an inexpensive and valuable source of genomic information and measure of diabetes risk.

  16. Evidence of broad-based family support for the use of archival childhood tumour samples in future research.

    Science.gov (United States)

    Sexton-Oates, Alexandra; Dodgshun, Andrew; MacGregor, Duncan; Ludlow, Louise E; Sullivan, Michael; Saffery, Richard

    2016-07-01

    This study aimed to determine the ability to successfully contact past paediatric patients and their families to request participation in research, to assess familial views on the use of previously collected archival clinical samples for research purposes, and to highlight the ethical and practical issues in obtaining this type of retrospective consent. To assess familial views on the use of such samples for research, we contacted a cohort of families with children previously diagnosed with a brain tumour to ask for consent to an epigenetic/genetic study. Examining participants' responses allowed us to gauge their opinions on the use of such tissue for research, and whether they would like to receive genetic information uncovered during research. We were able to successfully contact 107 out of 178 families and found a significant positive correlation between year of diagnosis and ability to make contact. Of those families contactable that returned a consent form (75/107), 74 agreed to the use of their/their child's archival tissue in future research, and 70 of 74 requested notification should a gene change of potential clinical relevance be found. There were no differences in opinion between parents of living or deceased children or the patients themselves. This study highlights the importance of time since diagnosis on the ability to make contact with previous patients and their families. When contactable, our data highlight the altruistic views of families towards the use of archival clinical samples for research purposes, irrespective of the outcome of their child's illness. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  17. Diagnosing faults in autonomous robot plan execution

    Science.gov (United States)

    Lam, Raymond K.; Doshi, Rajkumar S.; Atkinson, David J.; Lawson, Denise M.

    1988-01-01

    A major requirement for an autonomous robot is the capability to diagnose faults during plan execution in an uncertain environment. Many diagnostic researches concentrate only on hardware failures within an autonomous robot. Taking a different approach, the implementation of a Telerobot Diagnostic System that addresses, in addition to the hardware failures, failures caused by unexpected event changes in the environment or failures due to plan errors, is described. One feature of the system is the utilization of task-plan knowledge and context information to deduce fault symptoms. This forward deduction provides valuable information on past activities and the current expectations of a robotic event, both of which can guide the plan-execution inference process. The inference process adopts a model-based technique to recreate the plan-execution process and to confirm fault-source hypotheses. This technique allows the system to diagnose multiple faults due to either unexpected plan failures or hardware errors. This research initiates a major effort to investigate relationships between hardware faults and plan errors, relationships which were not addressed in the past. The results of this research will provide a clear understanding of how to generate a better task planner for an autonomous robot and how to recover the robot from faults in a critical environment.

  18. Diagnosing breast cancer by using Raman spectroscopy

    Science.gov (United States)

    Haka, Abigail S.; Shafer-Peltier, Karen E.; Fitzmaurice, Maryann; Crowe, Joseph; Dasari, Ramachandra R.; Feld, Michael S.

    2005-08-01

    We employ Raman spectroscopy to diagnose benign and malignant lesions in human breast tissue based on chemical composition. In this study, 130 Raman spectra are acquired from ex vivo samples of human breast tissue (normal, fibrocystic change, fibroadenoma, and infiltrating carcinoma) from 58 patients. Data are fit by using a linear combination model in which nine basis spectra represent the morphologic and chemical features of breast tissue. The resulting fit coefficients provide insight into the chemical/morphological makeup of the tissue and are used to develop diagnostic algorithms. The fit coefficients for fat and collagen are the key parameters in the resulting diagnostic algorithm, which classifies samples according to their specific pathological diagnoses, attaining 94% sensitivity and 96% specificity for distinguishing cancerous tissues from normal and benign tissues. The excellent results demonstrate that Raman spectroscopy has the potential to be applied in vivo to accurately classify breast lesions, thereby reducing the number of excisional breast biopsies that are performed. Author contributions: M.F., J.C., R.R.D., and M.S.F. designed research; A.S.H. and K.E.S.-P. performed research; A.S.H. and M.F. analyzed data; and A.S.H. wrote the paper.This paper was submitted directly (Track II) to the PNAS office.Abbreviations: DEH, ductal epithelial hyperplasia; ROC, receiver operating characteristic; N/C, nuclear-to-cytoplasm.

  19. The long-term consequences of previous hyperthyroidism

    DEFF Research Database (Denmark)

    Hjelm Brandt Kristensen, Frans

    2015-01-01

    all nation-wide medical databases. Based on The Danish Civil Registration System and The Danish Twin Registry, in combination with The Danish National Patient Registry and The Danish National Prescription Registry, two study populations were identified. The first included 4,850 hyperthyroid and 19...... of genetic-confounding could not be ruled out. Secondly, hyperthyroidism is positively associated with cardiovascular disease (CVD), lung disease (LD) and diabetes mellitus (DM). Stratification for the period before and after the diagnosis of hyperthyroidism revealed an increased risk of being diagnosed...

  20. 28 CFR 10.5 - Incorporation of papers previously filed.

    Science.gov (United States)

    2010-07-01

    ... 28 Judicial Administration 1 2010-07-01 2010-07-01 false Incorporation of papers previously filed... CARRYING ON ACTIVITIES WITHIN THE UNITED STATES Registration Statement § 10.5 Incorporation of papers previously filed. Papers and documents already filed with the Attorney General pursuant to the said act...

  1. 2 CFR 1.215 - Relationship to previous issuances.

    Science.gov (United States)

    2010-01-01

    ... 2 Grants and Agreements 1 2010-01-01 2010-01-01 false Relationship to previous issuances. 1.215 Section 1.215 Grants and Agreements ABOUT TITLE 2 OF THE CODE OF FEDERAL REGULATIONS AND SUBTITLE A Introduction toSubtitle A § 1.215 Relationship to previous issuances. Although some of the guidance was...

  2. 49 CFR 236.1031 - Previously approved PTC systems.

    Science.gov (United States)

    2010-10-01

    ... 49 Transportation 4 2010-10-01 2010-10-01 false Previously approved PTC systems. 236.1031 Section... Train Control Systems § 236.1031 Previously approved PTC systems. (a) Any PTC system fully implemented and operational prior to March 16, 2010, may receive PTC System Certification if the applicable PTC...

  3. Nationwide registry-based analysis of cancer clustering detects strong familial occurrence of Kaposi sarcoma.

    Science.gov (United States)

    Kaasinen, Eevi; Aavikko, Mervi; Vahteristo, Pia; Patama, Toni; Li, Yilong; Saarinen, Silva; Kilpivaara, Outi; Pitkänen, Esa; Knekt, Paul; Laaksonen, Maarit; Artama, Miia; Lehtonen, Rainer; Aaltonen, Lauri A; Pukkala, Eero

    2013-01-01

    Many cancer predisposition syndromes are rare or have incomplete penetrance, and traditional epidemiological tools are not well suited for their detection. Here we have used an approach that employs the entire population based data in the Finnish Cancer Registry (FCR) for analyzing familial aggregation of all types of cancer, in order to find evidence for previously unrecognized cancer susceptibility conditions. We performed a systematic clustering of 878,593 patients in FCR based on family name at birth, municipality of birth, and tumor type, diagnosed between years 1952 and 2011. We also estimated the familial occurrence of the tumor types using cluster score that reflects the proportion of patients belonging to the most significant clusters compared to all patients in Finland. The clustering effort identified 25,910 birth name-municipality based clusters representing 183 different tumor types characterized by topography and morphology. We produced information about familial occurrence of hundreds of tumor types, and many of the tumor types with high cluster score represented known cancer syndromes. Unexpectedly, Kaposi sarcoma (KS) also produced a very high score (cluster score 1.91, p-value <0.0001). We verified from population records that many of the KS patients forming the clusters were indeed close relatives, and identified one family with five affected individuals in two generations and several families with two first degree relatives. Our approach is unique in enabling systematic examination of a national epidemiological database to derive evidence of aberrant familial aggregation of all tumor types, both common and rare. It allowed effortless identification of families displaying features of both known as well as potentially novel cancer predisposition conditions, including striking familial aggregation of KS. Further work with high-throughput methods should elucidate the molecular basis of the potentially novel predisposition conditions found in this

  4. Nationwide registry-based analysis of cancer clustering detects strong familial occurrence of Kaposi sarcoma.

    Directory of Open Access Journals (Sweden)

    Eevi Kaasinen

    Full Text Available Many cancer predisposition syndromes are rare or have incomplete penetrance, and traditional epidemiological tools are not well suited for their detection. Here we have used an approach that employs the entire population based data in the Finnish Cancer Registry (FCR for analyzing familial aggregation of all types of cancer, in order to find evidence for previously unrecognized cancer susceptibility conditions. We performed a systematic clustering of 878,593 patients in FCR based on family name at birth, municipality of birth, and tumor type, diagnosed between years 1952 and 2011. We also estimated the familial occurrence of the tumor types using cluster score that reflects the proportion of patients belonging to the most significant clusters compared to all patients in Finland. The clustering effort identified 25,910 birth name-municipality based clusters representing 183 different tumor types characterized by topography and morphology. We produced information about familial occurrence of hundreds of tumor types, and many of the tumor types with high cluster score represented known cancer syndromes. Unexpectedly, Kaposi sarcoma (KS also produced a very high score (cluster score 1.91, p-value <0.0001. We verified from population records that many of the KS patients forming the clusters were indeed close relatives, and identified one family with five affected individuals in two generations and several families with two first degree relatives. Our approach is unique in enabling systematic examination of a national epidemiological database to derive evidence of aberrant familial aggregation of all tumor types, both common and rare. It allowed effortless identification of families displaying features of both known as well as potentially novel cancer predisposition conditions, including striking familial aggregation of KS. Further work with high-throughput methods should elucidate the molecular basis of the potentially novel predisposition conditions

  5. A Case of Eosinophilic Esophagitis Accompanying Familial Mediterranean Fever

    Directory of Open Access Journals (Sweden)

    Pejman Rohani

    2017-01-01

    Full Text Available Background. Eosinophilic esophagitis is an inflammatory condition where there is a dense infiltration of eosinophils typically exceeding fifteen cells per high power field. Familial Mediterranean fever is an autosomal recessive disorder characterized by brief, acute, and self-limited episodes of fever and polyserositis that recur at irregular intervals. Case Presentation. A three-year-and-nine-month-old Iranian girl was admitted to our center. The patient’s parents complained of a history of abdominal pain, poor appetite, and poor weight gain from 1.5 years ago and episodes of food impaction after starting solid foods. Eosinophilic esophagitis was diagnosed based on histology. Because of continuing abdominal pain after treatment of eosinophilic esophagitis, the episodic nature of disease, and the presence of fever with pain, screening for familial Mediterranean fever mutation was performed and the patient was found to be heterozygote for Mediterranean fever. Conclusion. We have reported a case of eosinophilic esophagitis coexisting with familial Mediterranean fever which has not been described previously.

  6. A Case of Eosinophilic Esophagitis Accompanying Familial Mediterranean Fever.

    Science.gov (United States)

    Rohani, Pejman; Najafi Sani, Mehri; Ahmadi, Mitra; Ziaee, Vahid

    2017-01-01

    Background. Eosinophilic esophagitis is an inflammatory condition where there is a dense infiltration of eosinophils typically exceeding fifteen cells per high power field. Familial Mediterranean fever is an autosomal recessive disorder characterized by brief, acute, and self-limited episodes of fever and polyserositis that recur at irregular intervals. Case Presentation. A three-year-and-nine-month-old Iranian girl was admitted to our center. The patient's parents complained of a history of abdominal pain, poor appetite, and poor weight gain from 1.5 years ago and episodes of food impaction after starting solid foods. Eosinophilic esophagitis was diagnosed based on histology. Because of continuing abdominal pain after treatment of eosinophilic esophagitis, the episodic nature of disease, and the presence of fever with pain, screening for familial Mediterranean fever mutation was performed and the patient was found to be heterozygote for Mediterranean fever. Conclusion. We have reported a case of eosinophilic esophagitis coexisting with familial Mediterranean fever which has not been described previously.

  7. Aluminium in brain tissue in familial Alzheimer's disease.

    Science.gov (United States)

    Mirza, Ambreen; King, Andrew; Troakes, Claire; Exley, Christopher

    2017-03-01

    The genetic predispositions which describe a diagnosis of familial Alzheimer's disease can be considered as cornerstones of the amyloid cascade hypothesis. Essentially they place the expression and metabolism of the amyloid precursor protein as the main tenet of disease aetiology. However, we do not know the cause of Alzheimer's disease and environmental factors may yet be shown to contribute towards its onset and progression. One such environmental factor is human exposure to aluminium and aluminium has been shown to be present in brain tissue in sporadic Alzheimer's disease. We have made the first ever measurements of aluminium in brain tissue from 12 donors diagnosed with familial Alzheimer's disease. The concentrations of aluminium were extremely high, for example, there were values in excess of 10μg/g tissue dry wt. in 5 of the 12 individuals. Overall, the concentrations were higher than all previous measurements of brain aluminium except cases of known aluminium-induced encephalopathy. We have supported our quantitative analyses using a novel method of aluminium-selective fluorescence microscopy to visualise aluminium in all lobes of every brain investigated. The unique quantitative data and the stunning images of aluminium in familial Alzheimer's disease brain tissue raise the spectre of aluminium's role in this devastating disease. Copyright © 2016 The Authors. Published by Elsevier GmbH.. All rights reserved.

  8. A Case of Eosinophilic Esophagitis Accompanying Familial Mediterranean Fever

    Science.gov (United States)

    Rohani, Pejman; Najafi Sani, Mehri; Ahmadi, Mitra

    2017-01-01

    Background. Eosinophilic esophagitis is an inflammatory condition where there is a dense infiltration of eosinophils typically exceeding fifteen cells per high power field. Familial Mediterranean fever is an autosomal recessive disorder characterized by brief, acute, and self-limited episodes of fever and polyserositis that recur at irregular intervals. Case Presentation. A three-year-and-nine-month-old Iranian girl was admitted to our center. The patient's parents complained of a history of abdominal pain, poor appetite, and poor weight gain from 1.5 years ago and episodes of food impaction after starting solid foods. Eosinophilic esophagitis was diagnosed based on histology. Because of continuing abdominal pain after treatment of eosinophilic esophagitis, the episodic nature of disease, and the presence of fever with pain, screening for familial Mediterranean fever mutation was performed and the patient was found to be heterozygote for Mediterranean fever. Conclusion. We have reported a case of eosinophilic esophagitis coexisting with familial Mediterranean fever which has not been described previously. PMID:28255474

  9. Retrospective Evaluation of Cases Diagnosed with Ulcerative Colitis

    Directory of Open Access Journals (Sweden)

    Gülseren Şahin

    2012-04-01

    Full Text Available In­tro­duc­ti­on: Inflammatory bowel disease (IBD is a chronic inflammatory disease of the gastrointestinal canal characterised by remissions and exacerbations. This study aimed to make a retrospective evaluation of clinical and laboratory findings of patients being monitored with a diagnosis of IBD.Materials and Methods: Medical records of 18 patients with a diagnosis of IBD and 7 years of follow-up at our pediatric gastroenterology departments were investigated with respect to demographic data, complaints on presentation and accompanying diseases. Unusual findings from physical examination, endoscopic findings, histopathological findings and the applied treatments were examined.Results: The 18 patients (10 female, 8 male included in this study had a mean age of 13.6±2.9 years and the mean time from onset of symptoms to diagnosis was 6.9±4.5 months. Seventeen patients were diagnosed with ulcerative colitis and 1 patient with intermediate colitis. There was a positive family history of the disease in 2 patients (11%. At the time of diagnosis, the most common complaints on presentation were found to be abdominal pain (100%, bloody diarrhea (94.5% and tenesmus (44.4%. The most frequent laboratory findings were CRP positivity (89%, increased sedimentation rate (83.3% and iron-deficient anaemia (77.7%. On colonoscopy, pancolitis involvement (66.6% was most frequently encountered. Accompanying diseases to IBD were found to be familial Mediterranean fever (FMF (11%, celiac disease (5.5% and Heliobacter pylori gastritis (5.5%. One patient (5.5% who did not respond to medical treatment for pancolitis involvement underwent a colectomy. Discussion: The number of diagnoses of IBD in childhood is gradually increasing. Nonetheless, it can be difficult to define diseases with non-specific symptoms and this may cause a delay in diagnosis. Because of the association of autoimmune diseases with IBD, despite appropriate therapy, diseases with no remission

  10. 76 FR 76189 - 2002 Reopened-Previously Denied Determinations;

    Science.gov (United States)

    2011-12-06

    ...; Sara Lee Corp., Bensenville, IL. TA-W-80,068; New Enterprise Stone and Lime, Erie, PA . TA-W-80,103..., Fairfield, OH. TA-W-80,315; Marlette Homes, Inc., Lewistown, PA. TA-W-80,323; Allen Family Foods,...

  11. Family Literacy

    Directory of Open Access Journals (Sweden)

    Livija Knaflič

    1999-12-01

    Full Text Available Research in child and adult literacy demonstrates that the achievement and the level of literacy that children attain at school is connected with the social and cultural characteristics and the level of literacy of the child's family. This intergenerational transfer of the level of literacy has motivated the search for different ways of improving the level of literacy.The concept of family literacy is based on the assumption that a higher level of parent literacy means that the children may achieve the same, and it also offers better schooling prospects. Family literacy programmes help fami­lies to develop different activities, in­cluding reading and writing skills, both in their community and in everyday life.

  12. Family dinner and adolescent overweight.

    Science.gov (United States)

    Taveras, Elsie M; Rifas-Shiman, Sheryl L; Berkey, Catherine S; Rockett, Helaine R H; Field, Alison E; Frazier, A Lindsay; Colditz, Graham A; Gillman, Matthew W

    2005-05-01

    The purpose of this study was to examine both cross-sectional and longitudinal associations between frequency of family dinner and overweight status in a large sample of 9- to 14-year-old children. We studied a cohort of 7784 girls and 6647 boys, 9 to 14 years of age at baseline in 1996, participating in the Growing Up Today Study. From annual mailed surveys, we calculated BMI from self-reported height and weight and assessed frequency of family dinner over the previous year. We defined "overweight" as age- and sex-specific BMI >85th percentile. We performed multiple logistic regression analyses; the longitudinal analyses assessed the association of previous year family dinner consumption with 1-year incidence of becoming overweight, using prospective data from 1996 through 1999. At baseline in 1996, 16% of participants had family dinner "never or some days," 40% on "most days," and 44% "every day." Across these categories, overweight prevalence for girls was 19.4%, 16.6%, and 16.7% and for boys was 24.6%, 23.3%, and 22.7%, respectively. In cross-sectional analyses, adjusting for potential confounders, the odds of being overweight was 0.85 [95% confidence interval (CI): 0.76, 0.96] among children who ate family dinner on "most days" or "every day" compared with those who ate family dinner "never or some days." In longitudinal multivariate models, the odds ratios between previous year frequency of eating family dinner and 1-year incidence of becoming overweight were 0.95 (95% CI: 0.78, 1.16) and 1.04 (95% CI: 0.85, 1.27) for children who ate family dinner on "most days" and "every day," respectively, compared with those who ate family dinner "never or some days." The frequency of eating family dinner was inversely associated with overweight prevalence at baseline but not with likelihood of becoming overweight in longitudinal analyses.

  13. Family Structure and Family Processes in Mexican American Families

    OpenAIRE

    Zeiders, Katharine H.; Roosa, Mark W.; Tein, Jenn-Yun

    2011-01-01

    Despite increases in single-parent families among Mexican Americans (MA), few studies have examined the association of family structure and family adjustment. Utilizing a diverse sample of 738 Mexican American families (21.7% single parent), the current study examined differences across family structure on early adolescent outcomes, family functioning, and parent-child relationship variables. Results revealed that early adolescents in single parent families reported greater school misconduct,...

  14. How Is Coronary Heart Disease Diagnosed?

    Science.gov (United States)

    ... signs of a previous or current heart attack . Stress Testing During stress testing , you exercise to make ... 2009, this project provided six awards at five academic institutions to identify genetic connections to heart, lung, ...

  15. Differentiated vulvar intraepithelial neoplasia is often found in lesions, previously diagnosed as lichen sclerosus, which have progressed to vulvar squamous cell carcinoma

    NARCIS (Netherlands)

    van de Nieuwenhof, Hedwig P.; Bulten, Johan; Hollema, Harrie; Dommerholt, Rianne G.; Massuger, Leon F. A. G.; van der Zee, Ate G. J.; de Hullu, Joanne A.; van Kempen, Leon C. L. T.

    2011-01-01

    Lichen sclerosus is considered to be the precursor lesion of vulvar squamous cell carcinoma, of which only 2-5% progress to squamous cell carcinoma. Differentiated vulvar intraepithelial neoplasia (VIN) has been proposed to be the direct precursor lesion, but this is a recently recognized, and a dif

  16. Newly diagnosed and previously known diabetes mellitus and 1-year outcomes of acute myocardial infarction: the VALsartan In Acute myocardial iNfarcTion (VALIANT) trial

    DEFF Research Database (Denmark)

    Aguilar, David; Solomon, Scott D; Køber, Lars

    2004-01-01

    BACKGROUND: A prior diagnosis of diabetes mellitus is associated with adverse outcomes after acute myocardial infarction (MI), but the risk associated with a new diagnosis of diabetes in this setting has not been well defined. METHODS AND RESULTS: We assessed the risk of death and major cardiovas...

  17. Socioemotional wealth preservation in family firms

    Directory of Open Access Journals (Sweden)

    Matias Kalm

    Full Text Available Abstract In this article, we review literature on socioemotional wealth. We explain how the concept of socioemotional wealth builds on previous family firm research showing that family-owners derive utility from the nonfinancial aspects of their firm. We also discuss how family firms' need for socioemotional wealth preservation explains behavioral differences between family and nonfamily firms in managerial decision making. Finally, we discuss the current state of socioemotional wealth research and propose potential directions for future research.

  18. [Familial Mediterranean fever: not to be missed

    NARCIS (Netherlands)

    Frenkel, J.; Bemelman, F.J.; Potter van Loon, B.J.; Simon, A.

    2013-01-01

    Familial Mediterranean fever (FMF) is common among Turkish and Moroccan migrants. We describe three patients with FMF. A 3-year-old girl with recurrent fever and abdominal pain who was diagnosed early with FMF and treated effectively with colchicine. An adolescent girl who required interleukin

  19. Familial aggregation of hypospadias: a cohort study

    DEFF Research Database (Denmark)

    Schnack, Tine H; Zdravkovic, Slobodan; Myrup, Charlotte

    2008-01-01

    Hypospadias is one of the most common birth defects. However, its etiology remains largely unknown. The authors investigated the contribution of genetic and environmental factors to familial aggregation of hypospadias. Using Danish health registers, they identified 5,380 boys diagnosed...

  20. Familial hypercholesterolaemia in children and adolescents

    DEFF Research Database (Denmark)

    Wiegman, Albert; Gidding, Samuel S; Watts, Gerald F

    2015-01-01

    Familial hypercholesterolaemia (FH) is a common genetic cause of premature coronary heart disease (CHD). Globally, one baby is born with FH every minute. If diagnosed and treated early in childhood, individuals with FH can have normal life expectancy. This consensus paper aims to improve awareness...

  1. Communicating terminal diagnoses to Hispanic patients.

    Science.gov (United States)

    Carrion, Iraida V

    2010-06-01

    This study addressed factors physicians employ in their communication of a terminal diagnosis and a hospice referral to Hispanic patients. The research method used was an exploratory qualitative in-depth semi-structured interview with thematic analysis. The interviews were with ten physicians in Central Florida. The interviews were conducted in Spanish and/or English with physicians who serve terminally ill Hispanic patients. The findings provide vital information on factors that impact communication of diagnosis and hospice referral. Themes emerged relating to role of family members and end-of-life decision-making. Language barriers and limited knowledge of cultural factors and beliefs impacted communication related to end-of-life decisions. Gaps in training and education for physicians were also identified. These results suggest that discussing end-of-life issues with the diverse category of Hispanic patients and families will be enhanced by eliminating language barriers, increased understanding of the role of family members, and knowledge of cultural factors and beliefs related to end-of-life decisions.

  2. Psychotic aura symptoms in familial hemiplegic migraine type 2 (ATP1A2).

    Science.gov (United States)

    Barros, José; Mendes, Alexandre; Matos, Ilda; Pereira-Monteiro, José

    2012-10-01

    Neuropsychological symptoms are rare in familial hemiplegic migraine (FHM). There are no reports of psychotic symptoms in FHM type 2 (ATP1A2). We examined a family with a FHM phenotype due to a M731T mutation in ATP1A2. A 10-year follow-up allowed us to observe complex auras, including psychotic symptoms in two siblings. Male, 48 years old, with an aura that included complex illusions with a feeling of time travelling, coincident with other aura features. The aura was regarded as mystical by the patient. Female, 38 years old, with a complex migraine aura, during which she believed she had the ability to time travel and was being followed by lobbyists who wanted to steal this ability from her. FHM type 2 must be included in the list of differential diagnoses of acute psychosis in patients with a previous history of migraine aura.

  3. Nine Species of the Family Lauxaniidae (Diptera, Lauxanioidea New to Korea

    Directory of Open Access Journals (Sweden)

    Lee, Hyun-Suk

    2015-10-01

    Full Text Available A total of 36 species and 11 genera of the fly family Lauxanidae have been previously recorded in Korean Peninsula. As a result of our ongoing study of this family, we here report the following nine species new to Korea: Homoneura albomarginata Czerny, 1932, Minettia filia (Becker, 1895, Pachycerina alutacea Shatalkin, 1998, Poecilolycia zherichini Shatalkin, 2000, Protrigonometopus sexlituris (Shatalkin, 1992, Salebrifacies czurkini Shatalkin, 1992, Sapromyza albiceps Fallén, 1820, Steganopsis dichroa Shatalkin, 1998, and Trigonometopus eborifacies Shatalkin, 1997. The genera Poecilolycia Shewell, 1986, Salebrifacies Shatalkin, 1992, and Steganopsis de Meijere, 1910 are recognized for the first time in this country. Therefore, 45 species in 14 genera are now officially recognized for the Korean lauxaniid fauna. In addition, we provide diagnoses and color photographs of adult external structures including male genitalia to aid their specific identification.

  4. Excess mortality in patients diagnosed with hypothyroidism

    DEFF Research Database (Denmark)

    Thvilum, Marianne; Brandt, Frans; Pedersen, Dorthe Almind

    2013-01-01

    Background: Although hypothyroidism is associated with increased morbidity, an association with increased mortality is still debated. Our objective was to investigate, at a nationwide level, whether a diagnosis of hypothyroidism influences mortality. Methods: In an observational cohort study from...... January 1, 1978 until December 31, 2008 using record-linkage data from nationwide Danish health registers, 3587 singletons and 682 twins diagnosed with hypothyroidism were identified. Hypothyroid individuals were matched 1:4 with nonhypothyroid controls with respect to age and gender and followed over...... a mean period of 5.6 years (range 0-30 years). The hazard ratio (HR) for mortality was calculated using Cox regression analyses. Comorbidity was evaluated using the Charlson score (CS). Results: In singletons with hypothyroidism, the mortality risk was increased (HR 1.52; 95% confidence interval [CI]: 1...

  5. Postnatal Treatment in Antenatally Diagnosed Meconium Peritonitis.

    Science.gov (United States)

    Ionescu, S; Andrei, B; Oancea, M; Licsandru, E; Ivanov, M; Marcu, V; Popa-Stanila, R; Mocanu, M

    2015-01-01

    Meconium peritonitis is a rare prenatal disease with an increased rate of morbidity and mortality in the neonatal period. Distinctive features revealed by prenatal and postnatal ultrasoundmay be present: abdominal calcifications, ascites, polyhydramnios, meconium pseudocyst, echogenic mass and dilated bowel or intestinal obstruction. Establishing clear postnatal treatment and prognosis is difficult because of the heterogeneity of the results obtained by ultrasound. The aim of the study is to determine how prenatal diagnosis of meconium peritonitis is associated with perinatal management and further evolution. Clinical results are different depending on the presence of antenatal diagnosis of meconium peritonitis and its form, which can be mild or severe. Surgical treatment and management of meconium peritonitis depend on the clinical presentation of the newborn. Meconium peritonitis diagnosed prenatally differs from that of the newborn, not only concerning the mortality rates but also through reduced morbidity and overall better prognosis. Celsius.

  6. Optical coherence tomography for diagnosing periodontal disease

    Science.gov (United States)

    Colston, Bill W., Jr.; Everett, Matthew J.; Da Silva, Luiz B.; Otis, Linda L.; Nathel, Howard

    1997-05-01

    We have, in this preliminary study, investigated the use of optical coherence tomography for diagnosis of periodontal disease. We took in vitro OCT images of the dental and periodontal tissues from a young pig and compared them to histological sections. These images distinguish tooth and soft tissue relationships that are important in diagnosing and assessing periodontal disease. We have imaged the attachment of gingiva to the tooth surface and located the cemento-enamel junction. This junction is an important reference point for defining attachment level in the diagnosis of periodontal disease. the boundary between enamel and dentin is also visible for most of the length of the anatomical crown, allowing quantitation of enamel thickness and character.

  7. Diagnosing Myocardial Contusion after Blunt Chest Trauma

    Directory of Open Access Journals (Sweden)

    Zahra Alborzi

    2016-10-01

    Full Text Available A myocardial contusion refers to a bruise of the cardiac muscle, the severity of which can vary depending on the severity of the injury and when the injury occurs. It is a major cause of rapid death which happens after blunt chest trauma and should be suspected at triage in the emergency department. We demonstrated that suspected myocardial contusion patients who have normal electrocardiograms (ECGs and biomarker tests can be safely discharged. However, if the test results are abnormal, the next steps should be echocardiography and more advanced measures. Diagnosing myocardial contusion is very difficult because of its nonspecific symptoms. If a myocardial contusion happens, cardiogenic shock or arrhythmia must be anticipated, and the patient must be carefully monitored.

  8. Clinically and electrophysiologically diagnosed botulinum intoxication.

    Science.gov (United States)

    Kotan, Dilcan; Aygul, Recep; Ceylan, Mustafa; Yilikoglu, Yalcin

    2013-01-03

    In this case report, clinical and electrophysiological findings of 43-year-old female patient who developed Clostridium botulinum intoxication after consumption of home-made canned food are presented. Following the sudden onset of severe nausea and vomiting, diplopia, blurred vision, bilateral ptosis, weakness, speech and swallowing difficulties have developed and the patient declared that she has just tasted the canned beans after she had rinsed them several times. The case, where serological tests cannot be performed, was diagnosed clinically and treated with antitoxin immediately. During follow-up, consecutive nerve stimulation was performed and significant incremental response was observed. There was an improvement in symptoms within 2 weeks, and in 5 or 6 weeks the symptoms had disappeared completely. Electrodiagnostic studies revealed that the findings turned to normal. The case showed that immediate antitoxin treatment is life-saving even the diagnosis of botulinum intoxication is based on clinical findings.

  9. Ein mehrstufiger Algorithmus zur Diagnose seltener Genodermatosen.

    Science.gov (United States)

    Tantcheva-Poór, Iliana; Oji, Vinzenz; Has, Cristina

    2016-10-01

    Jüngste Fortschritte der Genforschung haben ihren Weg in die klinische Dermatologie gefunden. Nahezu ein Drittel aller Erbkrankheiten zeigt charakteristische Hautveränderungen. Zudem können Proben menschlicher Haut als Untersuchungsmaterial zur Detektion genetischer Mosaike und der zu Grunde liegenden Defekte eingesetzt werden. Die Diagnose von Genodermatosen bleibt jedoch aufgrund ihrer unterschiedlich ausgeprägten und überlappenden Phänotypen sowie ihrer Seltenheit und Vielzahl neuer Informationen wegen eine Herausforderung für die Kliniker. Um das Interesse für dieses, sich schnell entwickelnde Feld der Dermatologie zu wecken und den Blick für einige seltene Erbkrankheiten zu schärfen, stellen wir in der hiesigen Übersicht einen Algorithmus für die Diagnostik und Evaluierung von Patienten mit fraglichen Genodermatosen vor.

  10. Preoperatively diagnosed mucocele of the appendix.

    Science.gov (United States)

    Rojnoveanu, Gh; Ghidirim, Gh; Mishin, I; Vozian, M; Mishina, A

    2014-01-01

    Mucocele of the appendix is an infrequent entity, characterized by distension of the lumen due to accumulation of mucoid substance and is rarely diagnosed preoperatively. If untreated, mucocele may rupture producing a potentially fatal entity known as pseudomyxoma peritonei. The type of surgical treatment is related to the dimensions and the histology of the mucocele. Appendectomy is used for simple mucocele or for cystadenoma. Right hemi-colectomy is recommended for cystadeno carcinoma. In this paper, we report a case of an asymptomatic 37-year-old woman in whom mucocele was found on a routine ultrasound examination and preoperative computed tomography scan. Surgery revealed a big appendix measuring 84 mm in length and 40 mm in diameter. The final pathologic diagnosis was simple mucocele. Celsius.

  11. Bordetella pertussis diagnosed by polymerase chain reaction

    DEFF Research Database (Denmark)

    Birkebaek, N H; Heron, I; Skjødt, K

    1994-01-01

    The object of this work was to test the polymerase chain reaction (PCR) for demonstration of Bordetella pertussis (BP) in nasopharyngeal secretions. The method was applied to patients with recently diagnosed pertussis, as verified by BP culture. In order to test the sensitivity and specificity...... in 25 patients in whose nasopharyngeal secretions BP had been demonstrated after 4-7 days of culture. The detection limit of PCR in aqueous solution was 1-2 BP bacteria per reaction tube. PCR was 100% specific for BP, showing no response with other Bordetella species or other bacteria known to colonize...... of PCR for the diagnosis of BP, we used known concentrations of BP, Bordetella parapertussis and Bordetella bronchiseptica in aqueous solutions. PCR was furthermore carried out on species of bacteria that might be isolated from the nasopharynx. The applicability of PCR to patient specimens was tested...

  12. Automated diagnostic kiosk for diagnosing diseases

    Science.gov (United States)

    Regan, John Frederick; Birch, James Michael

    2014-02-11

    An automated and autonomous diagnostic apparatus that is capable of dispensing collection vials and collections kits to users interesting in collecting a biological sample and submitting their collected sample contained within a collection vial into the apparatus for automated diagnostic services. The user communicates with the apparatus through a touch-screen monitor. A user is able to enter personnel information into the apparatus including medical history, insurance information, co-payment, and answer a series of questions regarding their illness, which is used to determine the assay most likely to yield a positive result. Remotely-located physicians can communicate with users of the apparatus using video tele-medicine and request specific assays to be performed. The apparatus archives submitted samples for additional testing. Users may receive their assay results electronically. Users may allow the uploading of their diagnoses into a central databank for disease surveillance purposes.

  13. Diagnosing ancient Diphyllobothriasis from Chinchorro mummies

    Directory of Open Access Journals (Sweden)

    Karl Reinhard

    2003-01-01

    Full Text Available Diphyllobothrium pacificum has been reported as a human parasite from coprolites and skeletons in Peru and Chile. Our analysis of Chinchorro mummies from Chile provides the oldest evidence of D. pacificum directly associated with human mummies. These mummies date between 4,000 and 5,000 years ago. The basis for our diagnosis is presented. We find that the size of the eggs in the mummies is smaller than other discoveries of D. pacificum. We suggest that this is due to the peculiar circumstances of preservation of parasite eggs within mummies and the release of immature eggs into the intestinal tract as the tapeworms decompose after the death of the host. This information is important to consider when making diagnoses from mummies.

  14. Discrete event systems diagnosis and diagnosability

    CERN Document Server

    Sayed-Mouchaweh, Moamar

    2014-01-01

    Discrete Event Systems: Diagnosis and Diagnosability addresses the problem of fault diagnosis of Discrete Event Systems (DES). This book provides the basic techniques and approaches necessary for the design of an efficient fault diagnosis system for a wide range of modern engineering applications. The different techniques and approaches are classified according to several criteria such as: modeling tools (Automata, Petri nets) that is used to construct the model; the information (qualitative based on events occurrences and/or states outputs, quantitative based on signal processing and data analysis) that is needed to analyze and achieve the diagnosis; the decision structure (centralized, decentralized) that is required to achieve the diagnosis. The goal of this classification is to select the efficient method to achieve the fault diagnosis according to the application constraints. This book focuses on the centralized and decentralized event based diagnosis approaches using formal language and automata as mode...

  15. Gastroesophageal reflux diagnosed by occlusal splint tintion.

    Science.gov (United States)

    Cebrián-Carretero, José Luis; López-Arcas-Calleja, José María

    2006-01-01

    The gastroesophageal reflux (GER) disease is a very frequent digestive disorder, mainly characterised by the reflux of the gastric acidic content to the esophage in abnormal quantities. There are different situations that favour this situation but almost in all of them rely an incompetence of the esophagic sphincter. The clinical consequences are many, including oral manifestations. Among all of them the most frequent is the esophagitis followed by symptoms at the pharynx or larynx and finally, the oral cavity. At this level fundamentally we will find enamel and oral mucosa erosions. We report the case of a patient who was indirectly diagnosed of her esophague disease by the observation of the alterations in the occlusal splint induced by the gastric reflux. We review the literature concerning the above topic and its possible association with the miofascial syndrome.

  16. How Do Health Care Providers Diagnose Spina Bifida?

    Science.gov (United States)

    ... and Publications How do health care providers diagnose spina bifida? Skip sharing on social media links Share this: Page Content Doctors diagnose spina bifida before or after the infant is born. Spina ...

  17. How Do Health Care Providers Diagnose Neural Tube Defects?

    Science.gov (United States)

    ... and Publications How do health care providers diagnose neural tube defects? Skip sharing on social media links Share this: Page Content Neural tube defects are usually diagnosed before the infant is ...

  18. My Child Has Been Diagnosed with ADHD - Now What?

    Science.gov (United States)

    ... for Parents My Child Has Been Diagnosed with ADHD - Now What? When their child is diagnosed with ... Services Among Children Ages 2-5 Years with ADHD (Healthcare Claims Data) Learn more Medicaid policies to ...

  19. Comparison of radiological measures for diagnosing flatfoot

    Energy Technology Data Exchange (ETDEWEB)

    Lo, Huan-Chu (Department of Radiology, Taoyuan Armed Forces General Hospital, Taoyuan, Taiwan (China); Diagnostic Radiology, National Defense Medical Center, Taipei, Taiwan (China)), Email: huanchu_lo@126.com; Chu, Wencheng; Wu, Weikai; Hsieh, Hsin; Chou, Chiehping; Sun, Shaoen; Chou, Pinya; Liao, Chenhui; Guan, Xiaoyun; Li, Shuchee (Department of Radiology, Taoyuan Armed Forces General Hospital, Taoyuan, Taiwan (China))

    2012-03-15

    Background. In the Taiwanese military, flatfoot is indicated by a calcaneal-fifth metatarsal angle (arch angle) =165 deg . However, the arch angle is not always easily defined. Purpose. To assess correlations between the arch angle and other radiographic measures and thus identify an alternative radiographic measure for diagnosing flatfoot. Material and Methods Eighty-seven male Taiwanese military recruits were studied (median age 22 years, interquartile range 20-23 years). Lateral, weight-bearing radiographs were taken. Five radiographic measurements, including the calcaneal-fifth metatarsal angle (arch angle), medial arch angle (MAA), calcaneal pitch angle (CP), talus angle (TA), and talar-first metatarsal angle (TFM) were made. Correlations between the arch angle and all other measures were determined. A cut-off value for predicting flatfoot (arch angle >=165 deg ) was determined for each measure using the Youden index and receiver-operating characteristic (ROC) curves were generated for each measure to assess diagnostic accuracy. Results. All measures were significantly correlated with arch angle (P < 0.05); however, the strongest correlation was for CP (rho = -0.905, P < 0.001). CP was associated with the highest area under the ROC (0.988 vs. 0.711-0.912 for the other measures). Further, CP (cut-off <12.3 deg ) had the highest sensitivity (92.0%), positive predictive value (76.7%), and negative predictive value (96.5%). TFM (>9.5 deg ) had the highest specificity (90.3% vs. 88.75 for CP <12.3 deg ). Conclusion. CP is inversely correlated with arch angle in Taiwanese male military recruits. CP < 12.3 deg is a significant predictor of flatfoot. Assessment of CP may be used as an alternative means of diagnosing flatfoot when the arch angle is not easily defined

  20. Diagnosing chronic thromboembolic pulmonary hypertension: current perspectives

    Directory of Open Access Journals (Sweden)

    Hadinnapola C

    2014-09-01

    Full Text Available Charaka Hadinnapola, Deepa Gopalan, David P Jenkins Papworth Hospital National Health Service Foundation Trust, Papworth Everard, Cambridge, United Kingdom Abstract: Chronic thromboembolic pulmonary hypertension is a rare and relatively poorly understood disease. It remains underdiagnosed and is often not recognized in primary and secondary care, as its symptoms are nonspecific and there are few clinical signs until late in the disease process. However, pulmonary endarterectomy (PEA offers a potential cure for patients with this type of pulmonary hypertension; therefore, it is important that they are identified and diagnosed in a timely manner. PEA is associated with a 2.2%–5% risk of significant morbidity and mortality, even in experienced PEA centers. Therefore, once chronic thromboembolic pulmonary hypertension is diagnosed, further assessment of operability and patient selection is crucial. Assessment of operability involves determining the distribution and burden of chronic thromboembolic disease, assessing pulmonary hemodynamics, and assessing the functional impairment of the patient. Ventilation perfusion scintigraphy is of value in screening for the presence of chronic thromboembolic disease. However, computer tomography pulmonary angiography and magnetic resonance pulmonary angiography are now increasingly used to image the vascular occlusions directly. This allows assessment of the surgically accessible disease burden. Some centers still advocate conventional selective pulmonary angiography for the latter. Right-heart catheterization remains the gold standard for assessing pulmonary hemodynamics. Higher pulmonary vascular resistances are associated with poorer outcomes as well as increased risks at the time of surgery. This is in part because of the presence of more distal chronic thromboembolic material and distal pulmonary artery remodeling. However, in experienced centers, these patients are being operated on safely and with good

  1. Causes and outcome of prenatally diagnosed hydronephrosis

    Directory of Open Access Journals (Sweden)

    Ahmadzadeh Ali

    2009-01-01

    Full Text Available Hydronephrosis is the most common abnormal finding in the urinary tract on prenatal screening with ultrasonography (U/S. Hydronephrosis may be obstructive or non-obstructive; obstructive lesions are more harmful to the developing kidneys. The aim of the study was to evaluate the causes of renal pelvic dilatation and the outcome of postnatal treatment in infants with hydronephrosis diagnosed prenatally with U/S. We prospectively studied 67 (60 males newborns with hydronephrosis diagnosed prenatally and confirmed postnatally with U/S from Sept. 2005 to Oct. 2007. The patients were allocated to three groups based on the mea-surement of the anteroposterior renal pelvic diameter (APRPD in transverse plane: mild (6-9.9 mm, moderate (10-14.9 mm and severe (> 15 mm hydronephrosis. Voiding cystourethrography (VCUG was obtained in all of the patients to rule out vesicoureteral reflux (VUR. In cases with negative VUR, Diethylenetriamine-pentaacetic acid (DTPA scan with diuretic renography was performed to detect ureteropelvic joint obstruction (UPJO. Twenty two cases (32.8% had mild, 20 (29.9% had moderate, and 25 (37.3% had severe hydronephrosis. The causes of hydroneph-rosis were VUR (40.2%, UPJO (32.8%, posterior urethral valves (PUVs (13.4 %, and transient hydronephrosis (13.4 %. The lesion was obstructive in 37 (55.2% infants. Totally, 33 (49.2% patients with hydronephrosis (9 mild, 9 moderate, and 15 severe subsequently developed com-plications such as UTI and renal insufficiency, or required surgery. Associated abnormalities were observed in 15 (22.4% patients. We conclude that every newborn with any degree of hydro-nephrosis should be assessed postnatally for specific diagnosis and treatment.

  2. Family Circle

    Institute of Scientific and Technical Information of China (English)

    2006-01-01

    Foster care is conducive to giving orphaned children a better life For most children living in orphanages, having a real home is just a pipe dream. Although they may be well looked after, receive a good education and proper nutrition, the love and care that come from being part of a real family just aren't there.

  3. My Family

    Institute of Scientific and Technical Information of China (English)

    刘才来

    2002-01-01

    There are four people in my family. They are grandma, father,mother and I. Now we all live in Wuhan. They are from different places. My grandma comes from Sichuan. She likes hot(辣4的) meat very much. She doesn't like bread or noodles at all. She likes vegetables a little. My father is from Guang Zhou.

  4. My Family

    Institute of Scientific and Technical Information of China (English)

    李梅

    2012-01-01

    There are four people in my family--my parents, my brother and I. My name is Li Mei. I'm fifteen years old. I am of medium height and build. I like English very much. It's very interesting. I can play the piano very well. It makes me feel very happy.

  5. Finding Family

    Institute of Scientific and Technical Information of China (English)

    LIU YUNYUN

    2010-01-01

    @@ It took 14 years--and just two min-utes-for an adopted Chinese girl to find her biological family. July 21 this year marked the first anniversary of Haley Butler's finding of her biological parents in Maanshan in east China's Anhui Province.

  6. FAMILY RICHARDIIDAE.

    Science.gov (United States)

    Wendt, Lisiane Dilli; Ale-Rocha, Rosaly

    2016-06-14

    Richardiidae are a family of "acalyptrate" Diptera represented by ca. 180 species distributed in the New World, mostly in the Neotropical region. The species that occur in Colombia have received little attention from taxonomists, and the great majority of them are known only from their type localities. Currently, 14 genera and 23 species are known to occur in the country.

  7. Family Genericity

    DEFF Research Database (Denmark)

    Ernst, Erik

    2006-01-01

    Type abstraction in object-oriented languages embody two techniques, each with its own strenghts and weaknesses. The first technique is extension, yielding abstraction mechanisms with good support for gradual specification. The prime example is inheritance. The second technique is functional abst...... the result as family genericity. The presented language design has been implemented....

  8. Finding Family

    Institute of Scientific and Technical Information of China (English)

    2010-01-01

    Discovering her birth parents was an exciting adventure for a 15-year-old girl It took 14 years-and just two minutes-for an adopted Chinese girl to find her biological family.July 21 this year marked the first

  9. Familial hypercholesterolaemia

    DEFF Research Database (Denmark)

    Versmissen, Jorie; Vongpromek, Ranitha; Yahya, Reyhana

    2016-01-01

    cholesterol efflux capacity between male familial hypercholesterolaemia (FH) patients with and without CHD relative to their non-FH brothers, and examined HDL constituents including sphingosine-1-phosphate (S1P) and its carrier apolipoprotein M (apoM). RESULTS: Seven FH patients were asymptomatic and six had...

  10. Family Genericity

    DEFF Research Database (Denmark)

    Ernst, Erik

    2006-01-01

    Type abstraction in object-oriented languages embody two techniques, each with its own strenghts and weaknesses. The first technique is extension, yielding abstraction mechanisms with good support for gradual specification. The prime example is inheritance. The second technique is functional abst...... the result as family genericity. The presented language design has been implemented....

  11. Uncomplicated pregnancy and delivery after previous severe postpartum cerebral angiopathy.

    Science.gov (United States)

    Rémi, Jan; Pfefferkorn, Thomas; Fesl, Gunther; Rogenhofer, Nina; Straube, Andreas; Klein, Matthias

    2011-09-01

    Postpartum cerebral angiopathy (PCA) is a cerebral vasoconstriction syndrome developing shortly after delivery, without signs of preceding eclampsia. The risk for recurrence of PCA is unknown. Here, we report on a closely monitored, uneventful pregnancy of a woman with a previous severe episode of PCA. In summary, this case report demonstrates that PCA does not necessarily recur in following pregnancies, even after previous severe episodes.

  12. Uncomplicated Pregnancy and Delivery after Previous Severe Postpartum Cerebral Angiopathy

    Directory of Open Access Journals (Sweden)

    Jan Rémi

    2011-10-01

    Full Text Available Postpartum cerebral angiopathy (PCA is a cerebral vasoconstriction syndrome developing shortly after delivery, without signs of preceding eclampsia. The risk for recurrence of PCA is unknown. Here, we report on a closely monitored, uneventful pregnancy of a woman with a previous severe episode of PCA. In summary, this case report demonstrates that PCA does not necessarily recur in following pregnancies, even after previous severe episodes.

  13. Queer diagnoses revisited: The past and future of homosexuality and gender diagnoses in DSM and ICD.

    Science.gov (United States)

    Drescher, Jack

    2015-01-01

    The American Psychiatric Association (APA) recently completed a several year process of revising the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5). During that time, there were objections raised to retaining DSM's gender identity disorder diagnoses and calls to remove them, just as homosexuality had been removed from DSM-II in 1973. At the conclusion of the DSM-5 revision process, the gender diagnoses were retained, albeit in altered form and bearing the new name of 'gender dysphoria'. The author of this paper was a member of the DSM-5 Workgroup on Sexual and Gender Identity Disorders and presently serves on the WHO Working Group on Sexual Disorders and Sexual Health. Both groups faced similar tasks: reconciling patients' needs for access to care with the stigma of being given a psychiatric diagnosis. The differing nature of the two diagnostic manuals led to two different outcomes. As background, this paper updates the history of homosexuality and the gender diagnoses in the DSM and in the International Statistical Classification of Diseases and Related Health Problems (ICD) as well as what is expected to happen to the homosexuality and gender diagnoses following the current ICD-11 revision process.

  14. Experience of stigma in private life of relatives of people diagnosed with schizophrenia in the Republic of Belarus.

    Science.gov (United States)

    Krupchanka, D; Kruk, N; Murray, J; Davey, S; Bezborodovs, N; Winkler, P; Bukelskis, L; Sartorius, N

    2016-05-01

    Family stigma constitutes a major problem in schizophrenia worldwide. Data on first-hand experience of stigma in families is necessary for planning and implementing interventions to reduce its burden. The aim of the study was to investigate the experience of stigma among relatives of persons with schizophrenia in Belarus. Qualitative research methods, such as the thematic analysis of in-depth semi-structured interviews with 20 relatives of people diagnosed with schizophrenia, were used. Experience of discrimination, strategies used to cope with it, and requests for interventions were investigated. The most salient themes in experience of stigma in the private domain of life elicited in the narratives included anticipated stigma and dissolution of families. The experience of stigma was associated with burdensome feelings of guilt, tiredness and loneliness, together with fear and anxiety due to uncertainty in the future and sorrow because of frustrated hopes in past. Analysis of the strategies used to overcome the difficulties revealed concealment and "life behind closed doors", avoidance of the rest of the family, taking full responsibility and sacrificing one's personal life. To reduce the burden of stigma in the private life of the family members of people living with schizophrenia in Belarus, important steps should be taken to promote the empowerment of families including: reforming mental health services; provision of better access to information; family support services, community care; development of family organisations; assistance in communication, re-socialisation and independent living for people diagnosed with schizophrenia.

  15. Time trend in diagnosing dementia in secondary care

    DEFF Research Database (Denmark)

    Phung, Thien Kieu Thi; Waltoft, Berit Lindum; Kessing, Lars Vedel;

    2010-01-01

    To study the trend of diagnosing dementia in the secondary health care sector over time, we conducted a nationwide longitudinal study of the incidence and prevalence of registered dementia diagnoses in the Danish national hospital registers.......To study the trend of diagnosing dementia in the secondary health care sector over time, we conducted a nationwide longitudinal study of the incidence and prevalence of registered dementia diagnoses in the Danish national hospital registers....

  16. Complex dental anomalies in a belatedly diagnosed cleidocranial dysplasia patient

    Energy Technology Data Exchange (ETDEWEB)

    Lu, Hui; Zeng, Bing Hui; Yu, Dong Sheng; Jing, Xiang Yi; Hu, Bin; Zhao, Wei; Wang, Yi Ming [Sun Yat-Sen University, Guangzhou (China)

    2015-09-15

    Cleidocranial dysplasia (CCD) is a rare congenital disorder, typically characterized by persistently open skull sutures, aplastic or hypoplastic clavicles, and supernumerary teeth. Mutations in the gene encoding the runt-related transcription factor 2 (RUNX2) protein are responsible for approximately two thirds of CCD patients. We report a 20-year-old CCD patient presenting not only with typical skeletal changes, but also complex dental anomalies. A previously undiagnosed odontoma, 14 supernumerary teeth, a cystic lesion, and previously unreported fused primary teeth were discovered on cone-beam computed tomography (CBCT) scans. Mutation analysis identified the causal c.578G>A (p.R193Q) mutation in the RUNX2 gene. At 20 years of age, the patient had already missed the optimal period for dental intervention. This report describes the complex dental anomalies in a belatedly diagnosed CCD patient, and emphasizes the significance of CBCT assessment for the detection of dental anomalies and the importance of early treatment to achieve good outcomes.

  17. Complex dental anomalies in a belatedly diagnosed cleidocranial dysplasia patient

    Science.gov (United States)

    Lu, Hui; Zeng, Binghui; Yu, Dongsheng; Jing, Xiangyi; Hu, Bin; Wang, Yiming

    2015-01-01

    Cleidocranial dysplasia (CCD) is a rare congenital disorder, typically characterized by persistently open skull sutures, aplastic or hypoplastic clavicles, and supernumerary teeth. Mutations in the gene encoding the runt-related transcription factor 2 (RUNX2) protein are responsible for approximately two thirds of CCD patients. We report a 20-year-old CCD patient presenting not only with typical skeletal changes, but also complex dental anomalies. A previously undiagnosed odontoma, 14 supernumerary teeth, a cystic lesion, and previously unreported fused primary teeth were discovered on cone-beam computed tomography (CBCT) scans. Mutation analysis identified the causal c.578G>A (p.R193Q) mutation in the RUNX2 gene. At 20 years of age, the patient had already missed the optimal period for dental intervention. This report describes the complex dental anomalies in a belatedly diagnosed CCD patient, and emphasizes the significance of CBCT assessment for the detection of dental anomalies and the importance of early treatment to achieve good outcomes. PMID:26389062

  18. Measles Outbreak among Previously Immunized Adult Healthcare Workers, China, 2015

    OpenAIRE

    Zhengyi Zhang; Yuan Zhao; Lili Yang; Changhong Lu; Ying Meng; Xiaoli Guan; Hongjin An; Meizhong Zhang; Wenqin Guo; Bo Shang; Jing Yu

    2016-01-01

    Measles is caused by measles virus belonging to genus Morbillivirus of the family Paramyxoviridae. Vaccination has played a critical role in controlling measles infection worldwide. However, in the recent years, outbreaks of measles infection still occur in many developing countries. Here, we report an outbreak of measles among healthcare workers and among the 60 measles infected patients 50 were healthcare workers including doctors, nurses, staff, and medics. Fifty-one patients (85%) tested ...

  19. Essential Points of a Support Network Approach for School Counselors Working with Children Diagnosed with Asperger's

    Science.gov (United States)

    Guo, Yuh-Jen; Wang, Shu-Ching; Corbin-Burdick, Marilyn F.; Statz, Shelly R.

    2013-01-01

    Asperger Syndrome (AS) presents unique challenges to both families and schools. Children diagnosed with Asperger's possess unparalleled characteristics in cognitive functioning and behavioral pattern. These children need extra attention and assistance in schools. School counselors require a strategy to successfully engage and support these…

  20. Essential Points of a Support Network Approach for School Counselors Working with Children Diagnosed with Asperger's

    Science.gov (United States)

    Guo, Yuh-Jen; Wang, Shu-Ching; Corbin-Burdick, Marilyn F.; Statz, Shelly R.

    2013-01-01

    Asperger Syndrome (AS) presents unique challenges to both families and schools. Children diagnosed with Asperger's possess unparalleled characteristics in cognitive functioning and behavioral pattern. These children need extra attention and assistance in schools. School counselors require a strategy to successfully engage and support these…

  1. ABA-Based Programs for Children Diagnosed with Autism Spectrum Disorder: Parental and Professional Experiences at School and at Home

    Science.gov (United States)

    Dillenburger, Karola; Keenan, Mickey; Doherty, Alvin; Byrne, Tony; Gallagher, Stephen

    2012-01-01

    Having a child diagnosed with Autism Spectrum Disorder (ASD) poses a range of challenges to families, many of which can be addressed through appropriate intervention. A study of parental (n = 95) and professional (n = 67) experiences was carried out in relation to two settings: (a) schools that provided intensive interventions based on the science…

  2. Policy implications for familial searching

    OpenAIRE

    Kim Joyce; Mammo Danny; Siegel Marni B; Katsanis Sara H

    2011-01-01

    Abstract In the United States, several states have made policy decisions regarding whether and how to use familial searching of the Combined DNA Index System (CODIS) database in criminal investigations. Familial searching pushes DNA typing beyond merely identifying individuals to detecting genetic relatedness, an application previously reserved for missing persons identifications and custody battles. The intentional search of CODIS for partial matches to an item of evidence offers law enforce...

  3. A Previously Undescribed Presentation of Mixed Adenoneuroendocrine Carcinoma

    Directory of Open Access Journals (Sweden)

    Javier De Luca-Johnson

    2016-01-01

    Full Text Available We report a case of mixed adenoneuroendocrine carcinoma (MANEC of stomach with tubular adenoma and well-differentiated neuroendocrine tumor (WD-NET in the primary tumor in the stomach giving rise to biphenotypic regional nodal metastases. A 35-year-old woman with abdominal pain was found to have a 1.8-cm gastric lesion, diagnosed as WD-NET (intermediate grade on the biopsy. The resection specimen contained residual WD-NET; there was also a gastric adenoma adjacent to the NET and nodal metastasis with both adeno- and neuroendocrine components. The tumor was classified as MANEC. Of note, the entire gastric tissue was submitted and multiple deeper levels of the adenomatous lesion were examined; no adenocarcinoma was present in the primary lesion. While association of gastric adenoma with neuroendocrine neoplasm is rare, presence of biphenotypic metastasis originating from such a lesion is highly unusual and to the best of our knowledge has not been reported.

  4. Policy implications for familial searching

    Directory of Open Access Journals (Sweden)

    Kim Joyce

    2011-11-01

    Full Text Available Abstract In the United States, several states have made policy decisions regarding whether and how to use familial searching of the Combined DNA Index System (CODIS database in criminal investigations. Familial searching pushes DNA typing beyond merely identifying individuals to detecting genetic relatedness, an application previously reserved for missing persons identifications and custody battles. The intentional search of CODIS for partial matches to an item of evidence offers law enforcement agencies a powerful tool for developing investigative leads, apprehending criminals, revitalizing cold cases and exonerating wrongfully convicted individuals. As familial searching involves a range of logistical, social, ethical and legal considerations, states are now grappling with policy options for implementing familial searching to balance crime fighting with its potential impact on society. When developing policies for familial searching, legislators should take into account the impact of familial searching on select populations and the need to minimize personal intrusion on relatives of individuals in the DNA database. This review describes the approaches used to narrow a suspect pool from a partial match search of CODIS and summarizes the economic, ethical, logistical and political challenges of implementing familial searching. We examine particular US state policies and the policy options adopted to address these issues. The aim of this review is to provide objective background information on the controversial approach of familial searching to inform policy decisions in this area. Herein we highlight key policy options and recommendations regarding effective utilization of familial searching that minimize harm to and afford maximum protection of US citizens.

  5. OUTCOME OF PREGNANCY IN WOMEN WITH PREVIOUS CAESAREAN SECTION

    Directory of Open Access Journals (Sweden)

    Bellad Girija

    2016-06-01

    Full Text Available BACKGROUND Carefully selected cases of Vaginal Birth after Caesarean Section (VBAC is safe and successful. Even though options of elective caesarean section or a trial of labour are given to women with prior caesarean section, the risk is always present. In successful VBACs, morbidity is less compared to repeat caesarean section. That is why this study is conducted to determine the outcome of pregnancy in women with previous CS. OBJECTIVES 1. To evaluate the clinical course of labour in cases with previous caesarean section. 2. To study the perinatal outcome in cases with previous caesarean section either by vaginal delivery or repeat Caesarean section. 3. To study maternal morbidity in these cases. METHOD A retrospective analysis of medical records of 250 women with a previous caesarean section, who delivered in BIMS Hospital between May 2015 and July 2015 was carried out. Women with recurrent indications for caesarean section and those having nonrecurrent indications with any complicating factors in present pregnancy and women with previous two caesarean sections were not given trial for vaginal delivery. Those women with previous section for the non-recurrent indications were given trial for vaginal delivery. STATISTICAL ANALYSIS Was done by Chi-square test. RESULT In 250 cases, 132 cases were given trial for vaginal delivery. In these, vaginal delivery was 61.3% and repeat section was 38%. There is an association between maternal morbidity and type of delivery. Birth weight was associated with the type of delivery. There is no association between neonatal outcome and type of delivery. CONCLUSION In carefully selected patients, appropriate timing and close supervision, trial of vaginal delivery in previous one caesarean section is safe and successful. Individual approach seems to be the best.

  6. Secondary recurrent miscarriage is associated with previous male birth.

    LENUS (Irish Health Repository)

    Ooi, Poh Veh

    2011-01-01

    Secondary recurrent miscarriage (RM) is defined as three or more consecutive pregnancy losses after delivery of a viable infant. Previous reports suggest that a firstborn male child is associated with less favourable subsequent reproductive potential, possibly due to maternal immunisation against male-specific minor histocompatibility antigens. In a retrospective cohort study of 85 cases of secondary RM we aimed to determine if secondary RM was associated with (i) gender of previous child, maternal age, or duration of miscarriage history, and (ii) increased risk of pregnancy complications. Fifty-three women (62.0%; 53\\/85) gave birth to a male child prior to RM compared to 32 (38.0%; 32\\/85) who gave birth to a female child (p=0.002). The majority (91.7%; 78\\/85) had uncomplicated, term deliveries and normal birth weight neonates, with one quarter of the women previously delivered by Caesarean section. All had routine RM investigations and 19.0% (16\\/85) had an abnormal result. Fifty-seven women conceived again and 33.3% (19\\/57) miscarried, but there was no significant difference in failure rates between those with a previous male or female child (13\\/32 vs. 6\\/25, p=0.2). When patients with abnormal results were excluded, or when women with only one previous child were considered, there was still no difference in these rates. A previous male birth may be associated with an increased risk of secondary RM but numbers preclude concluding whether this increases recurrence risk. The suggested association with previous male birth provides a basis for further investigations at a molecular level.

  7. Secondary recurrent miscarriage is associated with previous male birth.

    LENUS (Irish Health Repository)

    Ooi, Poh Veh

    2012-01-31

    Secondary recurrent miscarriage (RM) is defined as three or more consecutive pregnancy losses after delivery of a viable infant. Previous reports suggest that a firstborn male child is associated with less favourable subsequent reproductive potential, possibly due to maternal immunisation against male-specific minor histocompatibility antigens. In a retrospective cohort study of 85 cases of secondary RM we aimed to determine if secondary RM was associated with (i) gender of previous child, maternal age, or duration of miscarriage history, and (ii) increased risk of pregnancy complications. Fifty-three women (62.0%; 53\\/85) gave birth to a male child prior to RM compared to 32 (38.0%; 32\\/85) who gave birth to a female child (p=0.002). The majority (91.7%; 78\\/85) had uncomplicated, term deliveries and normal birth weight neonates, with one quarter of the women previously delivered by Caesarean section. All had routine RM investigations and 19.0% (16\\/85) had an abnormal result. Fifty-seven women conceived again and 33.3% (19\\/57) miscarried, but there was no significant difference in failure rates between those with a previous male or female child (13\\/32 vs. 6\\/25, p=0.2). When patients with abnormal results were excluded, or when women with only one previous child were considered, there was still no difference in these rates. A previous male birth may be associated with an increased risk of secondary RM but numbers preclude concluding whether this increases recurrence risk. The suggested association with previous male birth provides a basis for further investigations at a molecular level.

  8. Learning about Familial Hypercholesterolemia

    Science.gov (United States)

    ... terms used on this page Learning About Familial Hypercholesterolemia What is familial hypercholesterolemia? What are the symptoms ... Additional Resources About Familial Hypercholesterolemia What is familial hypercholesterolemia? Familial hypercholesterolemia is an inherited condition that causes ...

  9. Natural Family Planning

    Science.gov (United States)

    ... Sex and Birth Control Birth Control Natural Family Planning Natural Family Planning Birth ControlPrevention and WellnessSex and Birth Control Share Natural Family Planning Natural Family PlanningWhat is natural family planning?Natural ...

  10. Dual Familial Roles: An Asperger's Syndrome Case Story

    Science.gov (United States)

    Ivey, Julie K.; Ward, A. Kris

    2010-01-01

    Sibling interactions are challenges that all families face on a daily basis. These interactions are significantly more difficult when one child has autism. With the apparent increase in diagnoses of autism, there are more families each year who are dealing with issues of relationships. Children learn, as part of the growing up experience, how to…

  11. Defining Crisis in Families of Individuals with Autism Spectrum Disorders

    Science.gov (United States)

    Weiss, Jonathan A.; Wingsiong, Aranda; Lunsky, Yona

    2014-01-01

    Parents of children diagnosed with autism spectrum disorder often report higher levels of depression, anxiety, and mental health-related issues. The combination of stressors and family adjustment difficulties can cause distress which may develop into a crisis. Understanding crisis in the family is important to mental health practice since it can…

  12. Defining Crisis in Families of Individuals with Autism Spectrum Disorders

    Science.gov (United States)

    Weiss, Jonathan A.; Wingsiong, Aranda; Lunsky, Yona

    2014-01-01

    Parents of children diagnosed with autism spectrum disorder often report higher levels of depression, anxiety, and mental health-related issues. The combination of stressors and family adjustment difficulties can cause distress which may develop into a crisis. Understanding crisis in the family is important to mental health practice since it can…

  13. Genetic testing for Lynch syndrome: family communication and motivation

    NARCIS (Netherlands)

    C.H.M. Leenen (Celine); M.D. Heijer (Mariska den); C.A. van der Meer (Conny); E.J. Kuipers (Ernst); M.E. van Leerdam (Monique); A. Wagner (Anja)

    2016-01-01

    textabstractCurrent genetic counselling practice for Lynch syndrome (LS) relies on diagnosed index patients to inform their biological family about LS, referred to as the family-mediated approach. The objective of this study was to evaluate this approach and to identify factors influencing the uptak

  14. [Family violence].

    Science.gov (United States)

    Manoudi, F; Chagh, R; Es-soussi, M; Asri, F; Tazi, I

    2013-09-01

    Family violence is a serious public health problem, the scale of which is seriously increasing in Morocco. Although it has existed for a long time, we ignore the real characteristics of this plague in our country; our work consisted in an epidemiological approach of family violence in Marrakech during 2006. After elaborating a questionnaire, which allows the study of the demographic and social profile of the families, the study of violence exercised in the family and the evaluation of the depression in the women, we led an inquiry amongst 265 women. Analysis of the results obtained has allowed us to underline the following characteristics: 16.6% of the women in our sample had been physically beaten; the young age is a risk factor; the age range most affected by violence is in women between the ages of 30 and 40 and which represent 39% of the battered women; domestic violence touches all the social, economic and cultural classes: in our study, 63% of the women having undergone violence were housewives, 25% were managers and 3% senior executives; family problems were the most important cause of violence in our study, representing 32.32%. Requests for money was the cause in 11.3% of the cases, and imposed sexual relations were found in 6.8% of the cases; alcoholism is an aggravating factor of family violence; 27.3% of the spouses who assaulted their wives were drunk; 52% of the assaulted women were victims of violence in childhood and 36% had been witness to their father's violence; in 63.6% of the cases of violence, the children were witnesses, and in 25% of the cases the children were victims of violence at the same time as their mothers; 50% of the women victims of violence did not react, while 38.6% left home, and 9.1 filed for divorce. Thirty-two percent of the assaulted woman had been traumatised by the aggression; the association of depression and violence was very high, 343% of the battered women in our study suffered from severe depression. This work

  15. Designing and recruiting to UK autism spectrum disorder research databases: do they include representative children with valid ASD diagnoses?

    Science.gov (United States)

    Warnell, F; George, B; McConachie, H; Johnson, M; Hardy, R; Parr, J R

    2015-09-04

    (1) Describe how the Autism Spectrum Database-UK (ASD-UK) was established; (2) investigate the representativeness of the first 1000 children and families who participated, compared to those who chose not to; (3) investigate the reliability of the parent-reported Autism Spectrum Disorder (ASD) diagnoses, and present evidence about the validity of diagnoses, that is, whether children recruited actually have an ASD; (4) present evidence about the representativeness of the ASD-UK children and families, by comparing their characteristics with the first 1000 children and families from the regional Database of children with ASD living in the North East (Dasl(n)e), and children and families identified from epidemiological studies. Recruitment through a network of 50 UK child health teams and self-referral. Parents/carers with a child with ASD, aged 2-16 years, completed questionnaires about ASD and some gave professionals' reports about their children. 1000 families registered with ASD-UK in 30 months. Children of families who participated, and of the 208 who chose not to, were found to be very similar on: gender ratio, year of birth, ASD diagnosis and social deprivation score. The reliability of parent-reported ASD diagnoses of children was very high when compared with clinical reports (over 96%); no database child without ASD was identified. A comparison of gender, ASD diagnosis, age at diagnosis, school placement, learning disability, and deprivation score of children and families from ASD-UK with 1084 children and families from Dasl(n)e, and families from population studies, showed that ASD-UK families are representative of families of children with ASD overall. ASD-UK includes families providing parent-reported data about their child and family, who appear to be broadly representative of UK children with ASD. Families continue to join the databases and more than 3000 families can now be contacted by researchers about UK autism research. Published by the BMJ

  16. Clinical practice guideline: screening and diagnosing autism.

    Science.gov (United States)

    Blackwell, J

    2001-12-01

    The clinical practice guideline (CPG) reviewed in this month's column concerns the screening and diagnosis of autism. Autism is the third most common developmental disability and affects more than 1 in 500 children, or nearly 400,000 people in the United States, in some form. Primary care providers of children, including pediatric nurse practitioners (PNPs) and family nurse practitioners (FNPs), should reasonably expect to care for at least one child with autism (CWA). The American Academy of Neurology (AAN) has therefore developed guidelines to help healthcare providers facilitate the early identification of children with autism.

  17. Familial Anaphylaxis after Silkworm Ingestion.

    Science.gov (United States)

    Gautreau, Marc; Restuccia, Marc; Senser, Kevin; Weisberg, Stacy N

    2017-01-01

    Herein, we present a case of anaphylaxis in multiple family members after ingesting silkworms, an Asian delicacy. While food allergies, including anaphylaxis are unfortunately common, there are no previous reports of multiple family members suffering an anaphylactic reaction after eating silkworms. In addition, both family members required multiple doses of epinephrine and eventually an epinephrine infusion to improve their blood pressures. All interventions, including the epinephrine infusions, were started by emergency medical services (EMS) with on-line medical direction. Both the reaction and the required treatment are not extensively documented in the medical literature.

  18. The sexual victimization of male children: a review of previous research.

    Science.gov (United States)

    Vander Mey, B J

    1988-01-01

    The evidence available at this time indicates that male children are more likely to be abused by nonfamily rather than family members. Residing in a neglectful home or a mother-headed household and having previous homosexual contact tend to heighten risk for sexual abuse by nonfamily members. Familial sexual abuse appears related to residence in a home where other siblings are being abused, where the father was a victim of sexual abuse as a child, and where parents suffer myriad personal and social adjustment difficulties. Effects of male child sexual abuse appear to be serious and long lasting. The scant writings available at this time imply that the sexually abused male child experiences a range of adjustment and self-esteem problems as an adult and may be at heightened risk to become a child sexual abuser.

  19. A previously unrecognized group of Middle Jurassic triconodontan mammals from Central Asia

    Science.gov (United States)

    Martin, Thomas; Averianov, Alexander O.

    2007-01-01

    Ferganodon narynensis gen. et sp. nov. is represented by a lower molariform tooth from the Middle Jurassic (Callovian) Balabansai Svita in Kyrgyzstan. The new genus is allied with Klamelia zhaopengi Chow and Rich 1984 from the Middle Jurassic Shishugou Formation in Xinjiang, northwest China to the new family Klameliidae based on parallelogram-shaped lower molariforms, imbricating rather than interlocking of cusps e- d- f, by a peculiar distolabial cingulid cusp, and by vertical folding of the enamel on the labial crown side. The new family Klameliidae fam. nov. is most similar to Gobiconodontidae by the structure of the molariform teeth and represents a previously unrecognized radiation of eutriconodontan mammals possibly endemic to Central Asia.

  20. Job-loss and morbidity: the influence of job-tenure and previous work history.

    Science.gov (United States)

    Beale, N; Nethercott, S

    1986-12-01

    As part of a longitudinal study on the consequences of job-loss on health the modifying influence of job-tenure on a group of factory workers made redundant when a meat products factory closed was examined. The older workers, both men and women, were divided into two groups which were comparable in all respects except for job-tenure. Statistically significant differences in morbidity were found when comparing the two groups of male employees and their families.However, the men with longer job-tenure (mean 30 years) had, with few exceptions, served the company since leaving school. All of the other men (mean job-tenure 11 years) had previously worked elsewhere or been unemployed. The uptake of medical services before and after factory closure was therefore compared in two groups of workers and their families. One group who had previous experience of the job market showed a significant rise in morbidity only during the unsettling three years before factory closure. The other group, whose working lives had been spent wholly with the company, showed only a slight anticipatory effect but then demonstrated statistically significant increases in consultation rates after job-loss. Three years later they still showed no signs of adapting to their situation.The results suggest that previous experience of having no job or of having to change jobs may be just as influential as job tenure on the outcome of health before and after compulsory redundancy.

  1. Cannabinoid hyperemesis syndrome. A report of six new cases and a summary of previous reports.

    Science.gov (United States)

    Contreras Narváez, Carla; Mola Gilbert, Montserrat; Batlle de Santiago, Enric; Bigas Farreres, Jordi; Giné Serven, Eloy; Cañete Crespillo, Josep

    2016-03-02

    Cannabinoid hyperemesis syndrome (CHS) is a medical condition which was identified for the first time in 2004 and affects chronic users of cannabis. It is characterized by cyclic episodes of uncontrollable vomiting as well as compulsive bathing in hot water. The episodes have a duration of two to four days. The vomiting is recognizable by a lack of response to regular antiemetic treatment, and subsides only with cannabis abstinence, reappearing in periods of consumption of this substance. The etiology of this syndrome is unknown. Up until June 2014, 83 cases of CHS were published worldwide, four of them in Spain.The first patient of CHS at Mataró Hospital was diagnosed in 2012. Since then, five new cases have been identified. The average duration between the onset of acute CHS episodes and diagnosis is 6.1 years, similar to that observed in previously published cases, an average of 3.1 years. This "delay" of CHS diagnosis demonstrates a lack of awareness with respect to this medical condition in the healthcare profession.With the objective of providing information concerning CHS and facilitating its timely diagnosis, a series of six new cases of CHS diagnosed in Mataró Hospital is presented along with a summary of cases published between 2004 and June 2014.

  2. Primary Malignant Tumours of Bone Following Previous Malignancy

    Science.gov (United States)

    Patton, J. T.; Sommerville, S. M. M.; Grimer, R. J.

    2008-01-01

    Destructive bone lesions occurring in patients who have previously had a malignancy are generally assumed to be a metastasis from that malignancy. We reviewed 60 patients with a previous history of malignancy, who presented with a solitary bone lesion that was subsequently found to be a new and different primary sarcoma of bone. These second malignancies occurred in three distinct groups of patients: (1) patients with original tumours well known to be associated with second malignancies (5%); (2) patients whose second malignancies were likely to be due to the previous treatment of their primary malignancy (40%); (3) patients in whom there was no clearly defined association between malignancies (55%). The purpose of this study is to emphasise the necessity for caution in assuming the diagnosis of a metastasis when a solitary bone lesion is identified following a prior malignancy. Inappropriate biopsy and treatment of primary bone sarcomas compromises limb salvage surgery and can affect patient mortality. PMID:18414590

  3. Primary Malignant Tumours of Bone Following Previous Malignancy

    Directory of Open Access Journals (Sweden)

    R. J. Grimer

    2008-04-01

    Full Text Available Destructive bone lesions occurring in patients who have previously had a malignancy are generally assumed to be a metastasis from that malignancy. We reviewed 60 patients with a previous history of malignancy, who presented with a solitary bone lesion that was subsequently found to be a new and different primary sarcoma of bone. These second malignancies occurred in three distinct groups of patients: (1 patients with original tumours well known to be associated with second malignancies (5%; (2 patients whose second malignancies were likely to be due to the previous treatment of their primary malignancy (40%; (3 patients in whom there was no clearly defined association between malignancies (55%. The purpose of this study is to emphasise the necessity for caution in assuming the diagnosis of a metastasis when a solitary bone lesion is identified following a prior malignancy. Inappropriate biopsy and treatment of primary bone sarcomas compromises limb salvage surgery and can affect patient mortality.

  4. Erlotinib-induced rash spares previously irradiated skin

    Energy Technology Data Exchange (ETDEWEB)

    Lips, Irene M.; Vonk, Ernest J.A. [Radiotherapeutisch Instituut Stedendriehoek en Omstreken (RISO), Deventer (Netherlands). Dept. of Radiation Oncology; Koster, Mariska E.Y. [Deventer Hospital (Netherlands). Dept. of Lung Diseases; Houwing, Ronald H. [Deventer Hospital (Netherlands). Dept. of Dermatology

    2011-08-15

    Erlotinib is an epidermal growth factor receptor inhibitor prescribed to patients with locally advanced or metastasized non-small cell lung carcinoma after failure of at least one earlier chemotherapy treatment. Approximately 75% of the patients treated with erlotinib develop acneiform skin rashes. A patient treated with erlotinib 3 months after finishing concomitant treatment with chemotherapy and radiotherapy for non-small cell lung cancer is presented. Unexpectedly, the part of the skin that had been included in his previously radiotherapy field was completely spared from the erlotinib-induced acneiform skin rash. The exact mechanism of erlotinib-induced rash sparing in previously irradiated skin is unclear. The underlying mechanism of this phenomenon needs to be explored further, because the number of patients being treated with a combination of both therapeutic modalities is increasing. The therapeutic effect of erlotinib in the area of the previously irradiated lesion should be assessed. (orig.)

  5. Homework as Serious Family Business: Power and Subjectivity in Negotiations about School Assignments in Swedish Families

    Science.gov (United States)

    Forsberg, Lucas

    2007-01-01

    Most previous research on parental involvement in children's homework has focused on the pedagogical advantages or disadvantages of school assignments while neglecting the practice in its social context, family life. By studying parent-child homework negotiations in Swedish families, this paper examines how family members position themselves and…

  6. Chronic illness and family: impact of schizophrenia and Crohn's disease on the family quality of life.

    Science.gov (United States)

    Loga, Slobodan; Sošić, Bojan; Kulenović, Alma Džubur; Svraka, Emira; Bosankić, Nina; Kučukalić, Abdulah; Cemalović, Omer; Hadžić, Alma

    2012-12-01

    Quality of life assessments are increasingly present in health research. Chronic and progressive illness of a family member unavoidably affects quality of life of a family as a whole. The goals of this study were to gain insight into the family burden of chronic disorders, especially possible differences in family quality of life (FQOL) in families that have members suffering from either schizophrenia or Crohn's disease, and families in which none of the members have chronic somatic or mental illness, as well as to pilot an instrument for this purpose. The sample consisted of 53 families with a member suffering from schizophrenia, 50 families with a member suffering from Crohn's disease, and 45 families with no identifiable chronic illnesses. An informant from each family underwent a structured face to face interview, using a questionnaire specially adapted from Family Quality of Life Survey, an instrument widely used to assess FQOL in families with members with disabilities, and which addresses nine areas of family life. In the domain of health, both groups of families with chronic illnesses believe they have significantly different conditions when compared to members of the Control group. In the Crohn's disease group, families had a great deal more of challenges in accessing healthcare services; and see themselves at a disadvantage when compared to both other groups in the domain of finances. Control group offered lowest rating in the domain of support from others. Overall measures of FQOL show significant variation among the three groups, Crohn's disease group offering lowest ratings, followed by families of mental health service users. Overall, FQOL seems to be lower in families that have members diagnosed with Crohn's disease than in families with members suffering from schizophrenia. Illness-specific studies are required, as well as instruments with stronger psychometric properties and studies of determinants of FQOL. Qualitative approach should be emphasised

  7. My family

    Institute of Scientific and Technical Information of China (English)

    陈君怡

    2011-01-01

    I have a happy fam_ly.Lookthis is my family photo.This is mydad.He often wears a pair Ofglasses(戴着一副眼镜I_This ismy mum.She is very pretty.Sheloves me very much.The little girlin a red blouse is me.I’m smiling(微笑).I love my family.

  8. 32 CFR 584.2 - Family support and child custody.

    Science.gov (United States)

    2010-07-01

    ... not qualify as a family member in pro-rata determinations.) The children by the previous marriage must... under Army policy. (These family members are the child by a previous marriage and the present spouse and... 32 National Defense 3 2010-07-01 2010-07-01 true Family support and child custody. 584.2...

  9. Familial associations of lymphoma and myeloma with autoimmune diseases

    OpenAIRE

    Hemminki, K; Försti, A; Sundquist, K.; Sundquist, J.; Li, X

    2017-01-01

    Many B-cell neoplasms are associated with autoimmune diseases (AIDs) but most evidence is based on a personal rather than a family history of AIDs. Here we calculated risks for non-Hodgkin lymphoma (NHL), Hodgkin lymphoma (HL) and multiple myeloma (MM) when family members were diagnosed with any of 44 different AIDs, or, independently, risk for AIDs when family members were diagnosed with a neoplasm. A total of 64 418 neoplasms and 531 155 AIDs were identified from Swedish nationwide health c...

  10. [Familial hypercholesterolemia].

    Science.gov (United States)

    Turpin, G; Bruckert, E

    1999-12-01

    Familial hypercholesterolemia is characterized by a high plasma LDL-cholesterol level. The low-density particles are the end-product of the triglyceride-rich particles, i.e. VLDL, synthetized by the liver. These triglyceride-rich particles are subsequently transformed into intermediate density lipoprotein by the lipoprotein lipase and LDL after further triglyceride hydrolysis by the hepatic lipase. The LDL particles are taken up in all cells by the mean of the LDL receptor. A large body of evidence (including experimental, clinical, epidemiological data as well as the results of large trial with lipid lowering drugs) has accumulated to establish that these particles are one of the major causative factor of atherosclerosis and its complications. Two different mechanisms may be at work in the familial hypercholesterolemia: a mutation in the LDL receptor or a single mutation in the apolipoprotein B100. Specific therapeutic intervention should be undertaken to decrease the risk to develop cardiovascular disease, mainly coronary heart disease. The therapeutic intervention includes both a diet low in saturated fatty acids and cholesterol and statins which are now the first line therapy. Fibrates are proposed to those who do not tolerate statins and LDL-apheresis is associated to statin in the rare homozygous familial hypercholesterolemia.

  11. Diagnosing delirium in elderly Thai patients: Utilization of the CAM algorithm

    Directory of Open Access Journals (Sweden)

    Lerttrakarnnon Peerasak

    2011-07-01

    Full Text Available Abstract Background Delirium is a common illness among elderly hospitalized patients. However, under-recognition of the condition by non-psychiatrically trained personnel is prevalent. This study investigated the performance of family physicians when detecting delirum in elderly hospitalized Thai patients using the Thai version of the Confusion Assessment Method (CAM algorithm. Methods A Thai version of the CAM algorithm was developed, and three experienced Thai family physicians were trained in its use. The diagnosis of delirium was also carried out by four fully qualified psychiatrists using DSM-IV TR criteria, which can be considered the gold standard. Sixty-six elderly patients were assessed with MMSE Thai 2002, in order to evaluate whether they had dementia upon admission. Within three days of admission, each patient was interviewed separately by a psychiatrist using DSM-IV TR, and a family physician using the Thai version of the CAM algorithm, with both sets of interviewers diagnosing for delirium. Results The CAM algorithm tool, as used by family physicians, demonstrated a sensitivity of 91.9% and a specificity of 100.0%, with a PPV of 100.0% and an NPV of 90.6%. Interrater agreement between the family physicians and the psychiatrists was good (Cohen's Kappa = 0.91, p Conclusions Family physicians performed well when diagnosing delirium in elderly hospitalized Thai patients using the Thai version of the CAM algorithm, showing that this measurement tool is suitable for use by non-psychiatrically trained personnel, being short, quick, and easy to administer. However, proper training on use of the algorithm is required.

  12. Family characteristics of stuttering children

    Directory of Open Access Journals (Sweden)

    Simić-Ružić Budimirka

    2008-01-01

    Full Text Available INTRODUCTION Stuttering is a functional impairment of speech, which is manifested by conscious, but nonintentionally interrupted, disharmonic and disrhythmic fluctuation of sound varying in frequency and intensity. Aetiology of this disorder has been conceived within the frame of theoretical models, which tend to connect genetic and epigenetic factors. OBJECTIVE The goal of the paper was to study the characteristics of the family functioning of stuttering children in comparison to the family functioning of children without speech disorder, which confirmed the justification of the introduction of family orientated therapeutic interventions into the therapy spectrum of child stuttering. METHOD Seventy-nine nucleus families of 3 to 6 year-old children were examined; of these, 39 families had stuttering children and 40 had children without speech disorder. The assessment of family characteristics was made using the Family Health Scale, an observer-rating scale which according to semistructured interview and operational criteria, measures 6 basic dimensions of family functioning: Emotional State, Communication, Borders, Alliances, Adaptability & Stability, Family Skills. A total score calculated from the basic dimensions, is considered as a global index of family health. RESULTS Families with stuttering children compared to families with children without speech disorder showed significantly lower scores in all the basic dimension of family functioning, as well as in the total score on the Family Health Scale. CONCLUSION Our research results have shown that stuttering children in comparison with children without speech disorder live in families with unfavorable emotional atmosphere, impaired communication and worse control over situational and developmental difficulties, which affect children's development and well-being. In the light of previous research, the application of family therapy modified according to the child's needs is now considered

  13. Comprehensive Molecular Phylogeny of the Sub-Family Dipterocarpoideae (Dipterocarpaceae) Based on Chloroplast DNA Sequences

    National Research Council Canada - National Science Library

    Gamage, Dayananda Thawalama; Silva, Morley P. de; Inomata, Nobuyuki; Yamazaki, Tsuneyuki; Szmidt, Alfred E

    2006-01-01

    .... Although several previous studies addressed the phylogeny of the Dipterocarpaceae family, relationships among many of its genera from the Dipterocarpoideae sub-family are still not well understood...

  14. Tuberous sclerosis presenting with spontaneous pneumothorax secondary to lymphangioleiomyomatosis; previously mistaken for asthma.

    Science.gov (United States)

    Gosein, Maria Angela; Ameeral, Anthony; Konduru, Siva Krishna Prasad; Dola, Venkata Naga Srinivas

    2013-05-31

    A middle-aged female patient, previously diagnosed with asthma, presented with a large spontaneous left pneumothorax. She had a history of nephrectomy for a ruptured renal angiomyolipoma (AML) with a postoperative spontaneous pneumothorax when she was an adolescent. High-resolution CT chest revealed multiple scattered thin-walled lung parenchyma cysts consistent with lymphangioleiomyomatosis (LAM). Hepatic AMLs and adenoma sebaceum skin lesions were also noted, consistent with an overall diagnosis of tuberous sclerosis. Her acute management included lung re-expansion via chest tube insertion, antibiotics for concurrent chest infection, nebulisation and chest physiotherapy. Since discharge, the patient had only occasional shortness of breath, relieved by bronchodilators. She is considering expanded immunisation as well as enrolment in a clinical trial. Her hepatic AMLs will be monitored via ultrasound for growth. LAM treatment is generally aimed at its complications with lung transplantation reserved for severe disease; however, hormonal therapy and the mTOR inhibitor aim at targeting systemic disease.

  15. Peripartum cardiomyopathy in a previously asymptomatic carrier of Duchenne muscular dystrophy.

    Science.gov (United States)

    Cheng, Victoria E; Prior, David L

    2013-08-01

    A 40 year-old woman presented to hospital with 12h of progressive shortness of breath. She was 11 days postpartum, having delivered a full-term male infant. She was discharged on antibiotics for presumed pneumonia, but represented two days later with NYHA class IV symptoms and in acute decompensated heart failure confirmed on clinical examination and chest X-ray. Echocardiography showed a left ventricular ejection fraction (LVEF) of 20%. She was treated for peripartum cardiomyopathy (PPCM) with angiotensin converting enzyme inhibitors (ACEi), beta-blockers and diuretics with normalisation of her cardiac function within six months. Four years later, her son was diagnosed with Duchenne muscular dystrophy (DMD) and she tested positive as a carrier of the mutant gene. It is unclear whether the DMD carrier state alone is associated with increased susceptibility to PPCM or if this is merely the first expression of cardiomyopathy in a previously asymptomatic carrier.

  16. Fetal MRI clues to diagnose cloacal malformations

    Energy Technology Data Exchange (ETDEWEB)

    Calvo-Garcia, Maria A.; Kline-Fath, Beth M.; Patel, Manish N.; Kraus, Steven [Cincinnati Children' s Hospital Medical Center, Department of Radiology, MLC 5031, Cincinnati, OH (United States); Levitt, Marc A.; Pena, Alberto [Cincinnati Children' s Hospital Medical Center, Colorectal Center for Children, Pediatric Surgery, Cincinnati, OH (United States); Lim, Foong-Yen; Crombleholme, Timothy M. [Cincinnati Children' s Hospital Medical Center, Fetal Care Center of Cincinnati, Pediatric Surgery, Cincinnati, OH (United States); Linam, Leann E. [Arkansas Children' s Hospital, Department of Radiology, Little Rock, AR (United States)

    2011-09-15

    Prenatal US detection of cloacal malformations is challenging and rarely confirms this diagnosis. To define the prenatal MRI findings in cloacal malformations. We performed a retrospective study of patients with cloacal malformations who had pre- and post-natal assessment at our institution. Fetal MRI was obtained in six singleton pregnancies between 26 and 32 weeks of gestation. Imaging analysis was focused on the distal bowel, the urinary system and the genital tract and compared with postnatal clinical, radiological and surgical diagnoses. The distal bowel was dilated and did not extend below the bladder in five fetuses. They had a long common cloacal channel (3.5-6 cm) and a rectum located over the bladder base. Only one fetus with a posterior cloacal variant had a normal rectum. Three fetuses had increased T2 signal in the bowel and two increased T1/decreased T2 signal bladder content. All had renal anomalies, four had abnormal bladders and two had hydrocolpos. Assessment of the anorectal signal and pelvic anatomy during the third trimester helps to detect cloacal malformations in the fetus. The specificity for this diagnosis was highly increased when bowel fluid or bladder meconium content was identified. (orig.)

  17. Computer Assisted Diagnoses for Red Eye (CADRE

    Directory of Open Access Journals (Sweden)

    Muhammad Zubair Asghar

    2009-11-01

    Full Text Available This paper introduces an expert System (ES named as “CADRE-Computer Assisted Diagnoses for Red Eye. Mostly the remote areas of the population are deprived of the facilities of having experts in eye disease. So it is the need of the day to store the expertise of Eye specialists in computers through using ES technology. This ES is a rule-based Expert System that assists in red-eye diagnosis and treatment. The knowledge acquired from literature review and human experts of the specific domain was used as a base for analysis, diagnosis and recommendations. CADRE evaluates the risk factors of 20 eye diseases and works just like an ophthalmologist, which will be useful for students, doctors and researchers as well as to patients. This expert system (ES was developed through using ESTA, VISUAL BASIC, MS-EXCEL, Seagate Crystal Reports and Image Styler. This ES is not limited to the Red-eye diseases but can be extended to all types of eye-diseases.

  18. Diagnosing Beijing 2020: Mapping the Ungovernable City

    Directory of Open Access Journals (Sweden)

    Robin Visser

    2014-07-01

    Full Text Available Beijing Municipality, characterised by the ‘off-ground’ architecture distinguishing neo-liberal privatisation, is attempting to mitigate the damaging effects of rampant development on the social fabric, cultural heritage, and the environment by adopting sustainable urban planning. I argue that the sustainability rhetoric in the Beijing Municipality 2020 Plans functions in part as strategic metaphors masking unnamed, imminent threats to governance. In this article I diagnose four Beijing plans (Beijing 2006-2015 ‘Rail Transit Plan’ for Compact City, Beijing 2005-2020 ‘Underground Space Plan’ for Alternative Space, Beijing 2006-2020 ‘Undeveloped Area Plan’ for Ecological Responsibility, and Beijing 2006-2010 ‘Low-income Housing Plan’ for Affordability and Liveability. A diagrammatics of the plans illuminates not so much a mapping of Beijing’s future as the forms of spontaneity preoccupying the nation at this historical juncture. The Beijing 2020 plan, as city mapping more generally, discloses the imminence of ungovernable city. The fact that citizens are demanding greater authority over Beijing governance suggests that radical alterations to its urban fabric and quality of life have incited the imminent sociability that is the city.

  19. Peptidomic Identification of Serum Peptides Diagnosing Preeclampsia.

    Directory of Open Access Journals (Sweden)

    Qiaojun Wen

    Full Text Available We sought to identify serological markers capable of diagnosing preeclampsia (PE. We performed serum peptide analysis (liquid chromatography mass spectrometry of 62 unique samples from 31 PE patients and 31 healthy pregnant controls, with two-thirds used as a training set and the other third as a testing set. Differential serum peptide profiling identified 52 significant serum peptides, and a 19-peptide panel collectively discriminating PE in training sets (n = 21 PE, n = 21 control; specificity = 85.7% and sensitivity = 100% and testing sets (n = 10 PE, n = 10 control; specificity = 80% and sensitivity = 100%. The panel peptides were derived from 6 different protein precursors: 13 from fibrinogen alpha (FGA, 1 from alpha-1-antitrypsin (A1AT, 1 from apolipoprotein L1 (APO-L1, 1 from inter-alpha-trypsin inhibitor heavy chain H4 (ITIH4, 2 from kininogen-1 (KNG1, and 1 from thymosin beta-4 (TMSB4. We concluded that serum peptides can accurately discriminate active PE. Measurement of a 19-peptide panel could be performed quickly and in a quantitative mass spectrometric platform available in clinical laboratories. This serum peptide panel quantification could provide clinical utility in predicting PE or differential diagnosis of PE from confounding chronic hypertension.

  20. Diagnosing SWOT through Importance-performance Analysis

    Directory of Open Access Journals (Sweden)

    Alagirisamy Kamatchi Subbiah Sukumaran

    2015-03-01

    Full Text Available The aim of the study is to evaluate the performance of the firms surveyed against the importance of the opportunities, threats, strengths and weaknesses applicable to those firms using Importance-Performance analysis. Firms optimize their Strengths, Weaknesses, Opportunities and Threats with the help of SWOT analysis. Martilla and James (1977 popularized the Importance-Performance analysis through their study titled with the same name. Importance-Performance analysis can be used to evaluate the performance against the intention or plan formulated by business or non-business firms. This method is widely used in consumer satisfaction studies and competitor analysis. Quite often right decisions can be taken if the information is presented in a comprehensive and understandable manner and in these contexts, Importance-Performance measure scores well. To the best of the author’s knowledge, Importance-Performance Analysis is used for the first time in the study to diagnose the strengths, weaknesses, opportunities and threats applicable to a firm.

  1. Intramuscular and intermuscular lipoma: neglected diagnoses.

    Science.gov (United States)

    Fletcher, C D; Martin-Bates, E

    1988-03-01

    Fifty-four cases of lipoma arising either within or between skeletal muscles are presented. Of these, 52 were identified in a systematic review of 2478 tumours of adipose tissue diagnosed and treated in one hospital over a 25 year period. Intramuscular lipomas account for 1.8% of fatty tumours, arise predominantly in middle to late adult life and, in our series, are commonest on the trunk. They may be divided into infiltrative and well-circumscribed types, respective local recurrence rates being 19 and 0%. Intermuscular lipomas are comparatively rare, 0.3% of fatty tumours, have a similar age distribution and arise most often in the anterior abdominal wall; none of the seven cases recurred. It is important that both pathologists and surgeons appreciate the significant tendency of infiltrative intramuscular lipomas to recur. Hence, preventative surgical measures may be undertaken and worries that the lesion may be sarcomatous can be avoided. Differential diagnosis, most importantly from well-differentiated liposarcoma, is discussed.

  2. Recovery of Previously Uncultured Bacterial Genera from Three Mediterranean Sponges

    NARCIS (Netherlands)

    Versluis, Dennis; McPherson, Kyle; Passel, van Mark W.J.; Smidt, Hauke; Sipkema, Detmer

    2017-01-01

    Sponges often harbour a dense and diverse microbial community. Presently, a large discrepancy exists between the cultivable bacterial fraction from sponges and the community in its natural environment. Here, we aimed to acquire additional insights into cultivability of (previously uncultured)

  3. 49 CFR 173.23 - Previously authorized packaging.

    Science.gov (United States)

    2010-10-01

    ... permit. Editorial Note: For Federal Register citations affecting § 173.23, see the List of CFR Sections... 49 Transportation 2 2010-10-01 2010-10-01 false Previously authorized packaging. 173.23 Section... REQUIREMENTS FOR SHIPMENTS AND PACKAGINGS Preparation of Hazardous Materials for Transportation §...

  4. Haemophilus influenzae type f meningitis in a previously healthy boy

    DEFF Research Database (Denmark)

    Ronit, Andreas; Berg, Ronan M G; Bruunsgaard, Helle;

    2013-01-01

    Non-serotype b strains of Haemophilus influenzae are extremely rare causes of acute bacterial meningitis in immunocompetent individuals. We report a case of acute bacterial meningitis in a 14-year-old boy, who was previously healthy and had been immunised against H influenzae serotype b (Hib...

  5. Time to pregnancy after a previous miscarriage in subfertile couples

    NARCIS (Netherlands)

    T. Cox; J.W. van der Steeg; P. Steures; P.G.A. Hompes; F. van der Veen; M.J.C. Eijkemans; J.H. Schagen van Leeuwen; C. Renckens; P.M.M. Bossuyt; B.W.J. Mol

    2010-01-01

    Objective: To assess the time to spontaneous ongoing pregnancy after a previous miscarriage in subfertile couples. Design: A prospective cohort study. Setting: The study was conducted in 38 fertility centers in the Netherlands. Patient(s): Subfertile couples who miscarried after completing their bas

  6. Abiraterone in metastatic prostate cancer without previous chemotherapy

    NARCIS (Netherlands)

    Ryan, C.J.; Smith, M.R.; Bono, J. De; Molina, A.; Logothetis, C.J.; Souza, P. de; Fizazi, K.; Mainwaring, P.; Piulats, J.M.; Ng, S.; Carles, J.; Mulders, P.F.A.; Basch, E.; Small, E.J.; Saad, F.; Schrijvers, D.; Poppel, H. van; Mukherjee, S.D.; Suttmann, H.; Gerritsen, W.R.; Flaig, T.W.; George, D.J.; Yu, E.Y.; Efstathiou, E.; Pantuck, A.; Winquist, E.; Higano, C.S.; Taplin, M.E.; Park, Y.; Kheoh, T.; Griffin, T.; Scher, H.I.; Rathkopf, D.E.

    2013-01-01

    BACKGROUND: Abiraterone acetate, an androgen biosynthesis inhibitor, improves overall survival in patients with metastatic castration-resistant prostate cancer after chemotherapy. We evaluated this agent in patients who had not received previous chemotherapy. METHODS: In this double-blind study, we

  7. 2 CFR 230.45 - Relationship to previous issuance.

    Science.gov (United States)

    2010-01-01

    ... PRINCIPLES FOR NON-PROFIT ORGANIZATIONS (OMB CIRCULAR A-122) § 230.45 Relationship to previous issuance. (a... contains the information that was in Attachment C (non-profit organizations not subject to the Circular) to... agencies for non-profit organizations....

  8. Study of cystic artery by arteriography. Importance of previous cholecystography

    Energy Technology Data Exchange (ETDEWEB)

    Machado, G.O.

    An oral cholecystography previously to celiac and mesenteric arteriography is performed, in order to identify the cystic artery, in 42 patients with pancreatitis, according Seldinger technique. The cystic artery was identified in all the cases, the pattern being the outlet of the cystic artery from the right hepatic artery. Infusion pump and seriography were not used.

  9. Do clinical diagnoses correlate with pathological diagnoses in cardiac transplant patients? The importance of endomyocardial biopsy

    DEFF Research Database (Denmark)

    Luk, Adriana; Metawee, Mohammed; Ahn, Eric

    2009-01-01

    . Patient records were reviewed for preoperative clinical diagnoses and other relevant data, including pretransplant endomyocardial biopsy (EMB) results, information regarding left ventricular assist devices and, finally, evidence of disease recurrence in the grafted heart. RESULTS: A shift......, arrhythmogenic right ventricle dysplasia (100%), cardiac sarcoidosis (83%) and iron overload toxicity- associated cardiomyopathy (100%) had been misdiagnosed in pretransplantation investigations. Investigations before transplantation did not include an EMB. Of all 296 patients, 51 patients (17%) were...

  10. Put the Family Back in Family Health History: A Multiple-Informant Approach.

    Science.gov (United States)

    Lin, Jielu; Marcum, Christopher S; Myers, Melanie F; Koehly, Laura M

    2017-05-01

    An accurate family health history is essential for individual risk assessment. This study uses a multiple-informant approach to examine whether family members have consistent perceptions of shared familial risk for four common chronic conditions (heart disease, Type 2 diabetes, high cholesterol, and hypertension) and whether accounting for inconsistency in family health history reports leads to more accurate risk assessment. In 2012-2013, individual and family health histories were collected from 127 adult informants of 45 families in the Greater Cincinnati Area. Pedigrees were linked within each family to assess inter-informant (in)consistency regarding common biological family member's health history. An adjusted risk assessment based on pooled pedigrees of multiple informants was evaluated to determine whether it could more accurately identify individuals affected by common chronic conditions, using self-reported disease diagnoses as a validation criterion. Analysis was completed in 2015-2016. Inter-informant consistency in family health history reports was 54% for heart disease, 61% for Type 2 diabetes, 43% for high cholesterol, and 41% for hypertension. Compared with the unadjusted risk assessment, the adjusted risk assessment correctly identified an additional 7%-13% of the individuals who had been diagnosed, with a ≤2% increase in cases that were predicted to be at risk but had not been diagnosed. Considerable inconsistency exists in individual knowledge of their family health history. Accounting for such inconsistency can, nevertheless, lead to a more accurate genetic risk assessment tool. A multiple-informant approach is potentially powerful when coupled with technology to support clinical decisions. Published by Elsevier Inc.

  11. Problems with diagnosing Conversion Disorder in response to variable and unusual symptoms

    Directory of Open Access Journals (Sweden)

    Barnum R

    2014-04-01

    Full Text Available Richard BarnumPrivate practice, Child and adolescent psychiatry, MA, USAAbstract: Conversion Disorder (CD is a diagnosis offered to explain signs and symptoms that do not correspond to recognized medical conditions. Pediatric patients with variable, vague, and multisystem complaints are at increased risk for being diagnosed with CD. Little is known about the impact of such a diagnosis. In making such diagnoses, it is likely that pediatric providers hope to encourage patients to access mental health care, but no basis exists to show that these diagnoses result in such access in any useful way. This article presents the case of a child with Ehlers-Danlos Syndrome, who had been previously (incorrectly diagnosed with CD and referred for mental health care. It offers commentary based on interviews with other pediatric patients with similar experiences – conducted in collaboration with the Ehlers-Danlos National Foundation. These cases indicate that CD diagnoses can seriously undermine patients’ trust in doctors, and can create such defensiveness that it may interfere with (especially patients’ abilities to engage with mental health services. Such interference is an important problem, if the diagnosis is accurate. But, in the (more likely event that it is not accurate, this defensiveness can interfere with both important mental health care and further ongoing necessary medical care.Keywords: somatoform disorders, dysautonomias, pain, collagen diseases, mitochondrial diseases, complex regional pain syndromes

  12. The association between diagnosed glaucoma, cataract and cognitive performance in very old people: Cross sectional findings from the Newcastle 85+ cohort study

    Science.gov (United States)

    Jefferis, JM; Taylor, JP; Collerton, J; Jagger, C; Kingston, A; Davies, K; Kirkwood, T; Clarke, MP

    2014-01-01

    Purpose Common age-related eye diseases including glaucoma, cataract and age-related macular degeneration (AMD) have been proposed to be associated with dementia. Several studies have examined the link between cognition and AMD but few have examined the relationship between cognition and cataract or glaucoma. We explored the association between cognition and cataract and glaucoma diagnoses in community-dwelling 85 year olds. Methods Cross-sectional analysis of data from the Newcastle 85+ Cohort study. Diagnoses of eye disease were extracted from family practice records. Cognitive performance was assessed by the standardised mini-mental state examination (sMMSE) and the MMSE-blind (MMblind). The relationships between glaucoma diagnosis or cataract diagnosis and lower cognition were examined using ordinal logistic regression. Results Complete data were available for 839 participants. Of these, 36.0% (302/839) had recorded previous cataract surgery, 11.2% (94/839) untreated cataract and 7.9% (66/839) diagnosed glaucoma. Glaucoma diagnosis was associated with lower sMMSE (odds ratio [95% confidence interval]:1.76[1.05-2.95]); but not with lower MMblind:1.17[0.65-2.12]. When compared to no cataract, cataract diagnosis (treated and untreated combined) was associated with higher sMMSE:0.55[0.38-0.79] and MMblind:0.51[0.34-0.76]. Previously treated cataract was associated with higher sMMSE:0.72[0.59-0.88] and MMblind:0.68[0.55-0.85]. Untreated cataract was not significantly associated with sMMSE:0.65[0.36-1.19] or MMblind:0.73[0.39-1.36]. Conclusions This large epidemiological study of 85 year olds found that lower sMMSE but not MMblind was associated with glaucoma diagnosis, suggesting the association may be driven by poor vision. Cataract diagnosis was associated with higher sMMSE and MMblind. Reasons for this observation are unclear but may relate to enhanced help seeking behaviour in people with diagnosed cataract. PMID:23510311

  13. An Evaluability Assessment of the Toyota Families in Schools Program.

    Science.gov (United States)

    Quint, Janet

    The Toyota Families in Schools (TFS) Program is a new family literacy initiative that was developed by the National Center for Family Literacy (NCFL) with support from the Toyota Motor Corporation. TFS is based on a previous NCFL model calling for providing literacy activities to preschoolers and parents from low-income families. NCFL wanted to…

  14. Associations between Family Communication Patterns, Sibling Closeness, and Adoptive Status

    Science.gov (United States)

    Samek, Diana R.; Rueter, Martha A.

    2011-01-01

    Previous research has demonstrated the protective effect of family and sibling closeness on child adjustment, but fewer studies have investigated how closeness is promoted within families. Guided by Family Communication Patterns Theory, we tested the association between family communication and sibling emotional and behavioral closeness, and…

  15. In vitro culture of previously uncultured oral bacterial phylotypes.

    Science.gov (United States)

    Thompson, Hayley; Rybalka, Alexandra; Moazzez, Rebecca; Dewhirst, Floyd E; Wade, William G

    2015-12-01

    Around a third of oral bacteria cannot be grown using conventional bacteriological culture media. Community profiling targeting 16S rRNA and shotgun metagenomics methods have proved valuable in revealing the complexity of the oral bacterial community. Studies investigating the role of oral bacteria in health and disease require phenotypic characterizations that are possible only with live cultures. The aim of this study was to develop novel culture media and use an in vitro biofilm model to culture previously uncultured oral bacteria. Subgingival plaque samples collected from subjects with periodontitis were cultured on complex mucin-containing agar plates supplemented with proteose peptone (PPA), beef extract (BEA), or Gelysate (GA) as well as on fastidious anaerobe agar plus 5% horse blood (FAA). In vitro biofilms inoculated with the subgingival plaque samples and proteose peptone broth (PPB) as the growth medium were established using the Calgary biofilm device. Specific PCR primers were designed and validated for the previously uncultivated oral taxa Bacteroidetes bacteria HOT 365 and HOT 281, Lachnospiraceae bacteria HOT 100 and HOT 500, and Clostridiales bacterium HOT 093. All agar media were able to support the growth of 10 reference strains of oral bacteria. One previously uncultivated phylotype, Actinomyces sp. HOT 525, was cultivated on FAA. Of 93 previously uncultivated phylotypes found in the inocula, 26 were detected in in vitro-cultivated biofilms. Lachnospiraceae bacterium HOT 500 was successfully cultured from biofilm material harvested from PPA plates in coculture with Parvimonas micra or Veillonella dispar/parvula after colony hybridization-directed enrichment. The establishment of in vitro biofilms from oral inocula enables the cultivation of previously uncultured oral bacteria and provides source material for isolation in coculture.

  16. Diagnosing process faults using neural network models

    Energy Technology Data Exchange (ETDEWEB)

    Buescher, K.L.; Jones, R.D.; Messina, M.J.

    1993-11-01

    In order to be of use for realistic problems, a fault diagnosis method should have the following three features. First, it should apply to nonlinear processes. Second, it should not rely on extensive amounts of data regarding previous faults. Lastly, it should detect faults promptly. The authors present such a scheme for static (i.e., non-dynamic) systems. It involves using a neural network to create an associative memory whose fixed points represent the normal behavior of the system.

  17. Cardiopulmonary resuscitation training of family members before hospital discharge using video self-instruction: a feasibility trial.

    Science.gov (United States)

    Blewer, Audrey L; Leary, Marion; Decker, Christopher S; Andersen, James C; Fredericks, Amanda C; Bobrow, Bentley J; Abella, Benjamin S

    2011-09-01

    Bystander cardiopulmonary resuscitation (CPR) is a crucial therapy for sudden cardiac arrest (SCA), yet rates of bystander CPR are low. This is especially the case for SCA occurring in the home setting, as family members of at-risk patients are often not CPR trained. To evaluate the feasibility of a novel hospital-based CPR education program targeted to family members of patients at increased risk for SCA. Prospective, multicenter, cohort study. Inpatient wards at 3 hospitals. Family members of inpatients admitted with cardiac-related diagnoses. Family members were offered CPR training via a proctored video-self instruction (VSI) program. After training, CPR skills and participant perspectives regarding their training experience were assessed. Surveys were conducted one month postdischarge to measure the rate of "secondary training" of other individuals by enrolled family members. At the 3 study sites, 756 subjects were offered CPR instruction; 280 agreed to training and 136 underwent instruction using the VSI program. Of these, 78 of 136 (57%) had no previous CPR training. After training, chest compression performance was generally adequate (mean compression rate 90 ± 26/minute, mean depth 37 ± 12 mm). At 1 month, 57 of 122 (47%) of subjects performed secondary training for friends or family members, with a calculated mean of 2.1 persons trained per kit distributed. The hospital setting offers a unique "point of capture" to provide CPR instruction to an important, undertrained population in contact with at-risk individuals. Copyright © 2010 Society of Hospital Medicine.

  18. The importance of preoperative breast MRI for patients newly diagnosed with breast cancer.

    Science.gov (United States)

    Crowe, Joseph P; Patrick, Rebecca J; Rim, Alice

    2009-01-01

    The use of preoperative breast magnetic resonance imaging (bMRI) for patients newly diagnosed with breast cancer has been criticized for increasing the number of therapeutic mastectomies performed, as well as increasing the cost of treatment. The purpose of this report is to examine one surgeon's practice and to describe the MRI findings for patients with breast cancer to determine if those findings changed the therapeutic options for those patients in. Data were collected prospectively between August 2003 and January 2006 for patients newly diagnosed with breast cancer. Diagnoses were made by core biopsy or fine-needle aspiration; all lesions were intact at the time of MRI. Twenty-five percent of patients were found to have previously occult, but suspicious lesions on MRI that required additional diagnostic evaluation, including ultrasound, core biopsy, excisional biopsy, or any combination; for approximately half of these patients a separate cancer was confirmed. For most of these patients, the new lesion was ipsilateral and multicentric, and most required mastectomy. For the remaining 75% of patients, MRI confirmed the index lesion was the only area of concern, and appropriate surgical treatment was completed. Preoperative bMRI for patients newly diagnosed with breast cancer identified previously occult and separate tumors in 13% of patients, resulting in surgical treatment change for many.

  19. Understanding and diagnosing shift work disorder.

    Science.gov (United States)

    Thorpy, Michael

    2011-09-01

    A significant proportion of the workforce in industrialized countries (16%) are employed as shift workers. These workers may be susceptible to shift work disorder (SWD), a circadian rhythm sleep disorder, particularly those who work at night or on early-morning shifts. Shift work disorder remains an underdiagnosed and undertreated problem among this population. Patients with SWD have difficulty initiating sleep and waking up. Often, these patients have excessive sleepiness during their work shift. Shift work disorder has been associated with decreased productivity, impaired safety, diminished quality of life, and adverse effects on health. Several tools have been validated to assess excessive daytime sleepiness and are often used to assess excessive nighttime sleepiness, such as that experienced in patients with SWD, including the Epworth Sleepiness Scale and the Multiple Sleep Latency Test. The criteria for diagnosing SWD as established by the American Academy of Sleep Medicine (AASM) and published in the International Classification of Sleep Disorders-Second Edition (ICSD-2) were most recently updated in 2005 and thus do not contain newer agents approved for use in patients with SWD. The symptoms of SWD can be treated using behavioral, prescription, and nonprescription therapies. Current treatment guidelines suggest nonpharmacologic interventions, such as exercise and exposure to light. In addition, medications that contain melatonin or caffeine may have clinical benefits in some patients with SWD. However, modafinil and armodafinil are approved by the US Food and Drug Administration to improve wakefulness in patients with excessive sleepiness associated with SWD, and recent data suggest a clinical benefit. The use of these therapies can significantly improve sleep, performance, and quality of life for patients with SWD.

  20. Can intramuscular glucose levels diagnose compartment syndrome?

    Science.gov (United States)

    Doro, Christopher J; Sitzman, Thomas J; O'Toole, Robert V

    2014-02-01

    Compartment syndrome is difficult to diagnose, particularly in patients who are not able to undergo adequate clinical examination. Current methods rely on pressure measurements within the compartment, have high false-positive rates, and do not reliably indicate presence of muscle ischemia. We hypothesized that measurement of intramuscular glucose and oxygen can identify compartment syndrome with high sensitivity and specificity. Compartment syndrome was created in 12 anesthetized adult mixed-sex beagles, in the craniolateral compartment of a lower leg, by infusion of lactated Ringer's solution with normal serum concentration of glucose. The contralateral leg served as a control. Hydrostatic pressure, oxygen tension, and glucose concentration were recorded with commercially available probes. Compartment syndrome was maintained for 8 hours, and the animals were recovered. Two weeks later, compartment and control legs underwent muscle biopsy. Specimens were reviewed by a blinded pathologist. Within 15 minutes of creating compartment syndrome, glucose concentration and oxygen tension in the experimental limb were significantly lower than in the control limb (glucose, p = 0.02; oxygen, p = 0.007; two-tailed t test). Intramuscular glucose concentration of less than 97 mg/dL was 100% sensitive (95% confidence interval [CI], 73-100%) and 75% specific (95% CI, 40-94%) for the presence of compartment syndrome. Partial pressure of oxygen less than 30 mm Hg was 100% sensitive (95% CI, 72-100%) and 100% specific (95% CI, 69-100%) for the presence of compartment syndrome. Pathology confirmed compartment syndrome in all experimental limbs. Our results show that intramuscular glucose concentration and partial pressure of oxygen rapidly identify muscle ischemia with high sensitivity and specificity after experimentally created compartment syndrome in this animal model.

  1. Relations between the Course of Illness, Family History of Schizophrenia and Family Functioning in Persons with Schizophrenia

    OpenAIRE

    Dadic-Hero, Elizabeta; Ruzic, Klementina; Zarkovic Palijan, Tija; Graovac, Mirjana; Siuc-Valkovic, Dunja; Knez, Rajna; Grahovac, Tanja

    2013-01-01

    The aims of this study were to identify the aspects of family functioning which are associated with the course and remission of schizophrenia and to explore relations between aspects of family functioning and family history of schizophrenia. The subjects were 90 patients, treated at the Clinical hospital centre in Rijeka, Croatia, with diagnosed schizophrenia (F20.0 to F20.5) and without psychiatric comorbidity. The patients were organized into three groups depending on the treatment status d...

  2. [Fatal amnioinfusion with previous choriocarcinoma in a parturient woman].

    Science.gov (United States)

    Hrgović, Z; Bukovic, D; Mrcela, M; Hrgović, I; Siebzehnrübl, E; Karelovic, D

    2004-04-01

    The case of 36-year-old tercipare is described who developed choriocharcinoma in a previous pregnancy. During the first term labour the patient developed cardiac arrest, so reanimation and sectio cesarea was performed. A male new-born was delivered in good condition, but even after intensive therapy and reanimation occurred death of parturient woman with picture of disseminate intravascular coagulopathia (DIK). On autopsy and on histology there was no sign of malignant disease, so it was not possible to connect previous choricarcinoma with amniotic fluid embolism. Maybe was place of choriocarcinoma "locus minoris resistentiae" which later resulted with failure in placentation what was hard to prove. On autopsy we found embolia of lung with a microthrombosis of terminal circulation with punctiformis bleeding in mucous, what stands for DIK.

  3. Previous studies underestimate BMAA concentrations in cycad flour.

    Science.gov (United States)

    Cheng, Ran; Banack, Sandra Anne

    2009-01-01

    The traditional diet of the Chamorro people of Guam has high concentrations of the neurotoxin BMAA, beta-methyl-amino-L-alanine, in cycad tortillas and from animals that feed on cycad seeds. We measured BMAA concentration in washed cycad flour and compared different extraction methods used by previous researchers in order to determine how much BMAA may have been unaccounted for in prior research. Samples were analyzed with AQC precolumn derivatization using HPLC-FD detection and verified with UPLC-UV, UPLC-MS, and triple quadrupole LC/MS/MS. Although previous workers had studied only the free amino acid component of BMAA in washed cycad flour, we detected significant levels of protein-associated BMAA in washed cycad flour. These data support a link between ALS/PDC and exposure to BMAA.

  4. Cutaneous responses to vaccinia in individuals with previous smallpox vaccination.

    Science.gov (United States)

    Simpson, Eric L; Hercher, Michelle; Hammarlund, Erika K; Lewis, Matthew W; Slifka, Mark K; Hanifin, Jon M

    2007-09-01

    The durability of immune responses to smallpox vaccine is a subject of considerable debate. We compared cutaneous vaccinia responses in patients vaccinated in the distant past with vaccine-naïve individuals using serial close-up photographs. The previously vaccinated group had a significantly reduced time course and milder cutaneous reactions. Vaccinated individuals appear to maintain clinically detectable immunity against vaccinia for at least 20 years after smallpox vaccination.

  5. Robotic Assisted Laparoscopic Prostatectomy Performed after Previous Suprapubic Prostatectomy

    Science.gov (United States)

    Tsui, Johnson F.; Feuerstein, Michael; Jazayeri, Seyed Behzad

    2016-01-01

    Operative management of prostate cancer in a patient who has undergone previous open suprapubic simple prostatectomy poses a unique surgical challenge. Herein, we describe a case of intermediate risk prostate cancer in a man who had undergone simple prostatectomy ten years prior to presentation. The patient was found to have Gleason 7 prostate cancer on MRI fusion biopsy of the prostate for elevated PSA and underwent an uncomplicated robot assisted laparoscopic radical prostatectomy. PMID:27882057

  6. Antenatal diagnosis of Patau syndrome with previous anomalous baby

    OpenAIRE

    Keerthi Kocherla; Vasantha Kocherla

    2014-01-01

    Patau syndrome is the least common and most severe of the viable autosomal trisomies with median survival of fewer than 3 days was first identified as a cytogenetic syndrome in 1960. Patau syndrome is caused by an extra copy of chromosome 13. In this case report, we present antenatal imaging findings and gross foetal specimen correlation of foetus with Patau syndrome confirmed by karyotyping in third gravida who had significant previous obstetric history of gastrochisis in monochorionic and...

  7. Fontan completion in a patient with previous liver transplantation.

    Science.gov (United States)

    Haida, Hirofumi; Aeba, Ryo; Hoshino, Ken; Morikawa, Yasuhide

    2014-10-01

    We present the first case of a successful Fontan completion in a patient with previous liver transplantation. An infant with polysplenia syndrome with a functional single ventricle and biliary atresia had been surgically managed by pulmonary artery banding, Kasai operation and living donor liver transplantation. Subsequently, the patient successfully underwent bidirectional cavopulmonary shunt and total cavopulmonary connection with extracardiac conduit at 3 and 5 years of age, respectively.

  8. Pleuritis due to Brevundimonas diminuta in a previously healthy man.

    Science.gov (United States)

    Lu, Binghuai; Shi, Yanli; Zhu, Fengxia; Xu, Xiaolin

    2013-03-01

    Brevundimonas diminuta is rarely associated with invasive infections. We report the case of a previously healthy young man with pleural effusion, in which B. diminuta was recovered but incorrectly identified as Kingella kingae when it was freshly isolated. Consequently, the misidentification resulted in initial treatment failure. The correct identification was achieved through further incubation, sequencing of the 16S rRNA gene and MS.

  9. Antenatal diagnosis of Patau syndrome with previous anomalous baby

    OpenAIRE

    Keerthi Kocherla; Vasantha Kocherla

    2014-01-01

    Patau syndrome is the least common and most severe of the viable autosomal trisomies with median survival of fewer than 3 days was first identified as a cytogenetic syndrome in 1960. Patau syndrome is caused by an extra copy of chromosome 13. In this case report, we present antenatal imaging findings and gross foetal specimen correlation of foetus with Patau syndrome confirmed by karyotyping in third gravida who had significant previous obstetric history of gastrochisis in monochorionic and...

  10. Previous violent events and mental health outcomes in Guatemala.

    Science.gov (United States)

    Puac-Polanco, Victor D; Lopez-Soto, Victor A; Kohn, Robert; Xie, Dawei; Richmond, Therese S; Branas, Charles C

    2015-04-01

    We analyzed a probability sample of Guatemalans to determine if a relationship exists between previous violent events and development of mental health outcomes in various sociodemographic groups, as well as during and after the Guatemalan Civil War. We used regression modeling, an interaction test, and complex survey design adjustments to estimate prevalences and test potential relationships between previous violent events and mental health. Many (20.6%) participants experienced at least 1 previous serious violent event. Witnessing someone severely injured or killed was the most common event. Depression was experienced by 4.2% of participants, with 6.5% experiencing anxiety, 6.4% an alcohol-related disorder, and 1.9% posttraumatic stress disorder (PTSD). Persons who experienced violence during the war had 4.3 times the adjusted odds of alcohol-related disorders (P PTSD (P civil war and continues today has had a significant effect on the mental health of Guatemalans. However, mental health outcomes resulting from violent events decreased in the postwar period, suggesting a nation in recovery.

  11. Subtalar Fusion Rate in Patients With Previous Ipsilateral Ankle Arthrodesis.

    Science.gov (United States)

    Zanolli, Diego H; Nunley, James A; Easley, Mark E

    2015-09-01

    Isolated subtalar arthrodesis is generally successful, with reported fusion rates of 84% to 100%. However, alteration of subtalar joint mechanics and talar body vasculature after ankle fusion may negatively influence subsequent ipsilateral subtalar joint fusion. Because there is very limited information on the subtalar fusion rate in patients with previous ipsilateral ankle fusion, the purpose of this study was to describe fusion rates in subtalar joint arthrodesis with and without preexisting ankle fusion in a large consecutive series of primary subtalar arthrodesis cases. All primary subtalar fusions performed between January 2000 and December 2010 were reviewed. Thirteen of 151 consecutive cases were in patients with existing ipsilateral ankle fusions. All patients were evaluated for clinical and radiographic evidence of nonunion at follow-up, and fusion rates in the groups with and without previous ipsilateral ankle fusion were compared. Five nonunions occurred in the 13 cases with prior ipsilateral ankle arthrodesis, a 61.5% fusion rate. Twelve nonunions were identified in the 138 cases without prior ankle arthrodesis, a significantly higher fusion rate of 91.3% (P = .007). In our series, the subtalar fusion rate in patients with previous ipsilateral ankle arthrodesis was significantly lower than that for subtalar arthrodesis in the absence of ipsilateral ankle arthrodesis. Level III, retrospective comparative study. © The Author(s) 2015.

  12. Previous Violent Events and Mental Health Outcomes in Guatemala

    Science.gov (United States)

    Puac-Polanco, Victor D.; Lopez-Soto, Victor A.; Kohn, Robert; Xie, Dawei; Richmond, Therese S.

    2015-01-01

    Objectives. We analyzed a probability sample of Guatemalans to determine if a relationship exists between previous violent events and development of mental health outcomes in various sociodemographic groups, as well as during and after the Guatemalan Civil War. Methods. We used regression modeling, an interaction test, and complex survey design adjustments to estimate prevalences and test potential relationships between previous violent events and mental health. Results. Many (20.6%) participants experienced at least 1 previous serious violent event. Witnessing someone severely injured or killed was the most common event. Depression was experienced by 4.2% of participants, with 6.5% experiencing anxiety, 6.4% an alcohol-related disorder, and 1.9% posttraumatic stress disorder (PTSD). Persons who experienced violence during the war had 4.3 times the adjusted odds of alcohol-related disorders (P < .05) and 4.0 times the adjusted odds of PTSD (P < .05) compared with the postwar period. Women, indigenous Maya, and urban dwellers had greater odds of experiencing postviolence mental health outcomes. Conclusions. Violence that began during the civil war and continues today has had a significant effect on the mental health of Guatemalans. However, mental health outcomes resulting from violent events decreased in the postwar period, suggesting a nation in recovery. PMID:25713973

  13. Prenatally diagnosed submicroscopic familial aberrations at 18p11.32 without phenotypic effect

    Directory of Open Access Journals (Sweden)

    Srebniak Malgorzata I

    2011-12-01

    Full Text Available Abstract Background Recent development of MLPA (Multiplex-Ligation-dependent Probe Amplification, MRC-Holland and microarray technology allows detection of a wide range of new submicroscopic abnormalities. Publishing new cases and case reviews associated with both clinical abnormalities and a normal phenotype is of great value. Findings/results We report on two phenotypically normal foetuses carrying a maternally-inherited interstitial submicroscopic abnormality of chromosome 18p11.32. Both abnormalities were found with the aneuploidy MLPA kit P095 during rapid aneuploidy detection, which was offered along with conventional karyotyping. Foetus 1 and its mother have a 1,7 Mb deletion and foetus 2 and its mother have a 1,9 Mb duplication. In both cases normal babies were born. We used the HumanCytoSNP-12 array of Illumina to visualize the CNVs and map the breakpoints. Conclusions We suggest that a CNV at 18p11.32 (528,050-2,337,486 may represent a new benign euchromatic variant.

  14. 100 Day Kit for Newly Diagnosed Families of School Age Children

    Science.gov (United States)

    ... often focuses on skills for appropriate play or leisure skills, learning and self-care skills. Therapy begins ... schedule that shows each step of the air travel experience – trip to the airport, check-in, security, ...

  15. Familial clustering of executive functioning in affected sibling pair families with ADHD.

    NARCIS (Netherlands)

    Slaats-Willemse, D.I.; Swaab-Barneveld, H.J.; Sonneville, L.

    2005-01-01

    OBJECTIVE: To investigate familial clustering of executive functioning (i.e., response inhibition, fine visuomotor functioning, and attentional control) in attention-deficit/hyperactivity disorder (ADHD)-affected sibling pairs. METHOD: Fifty-two affected sibling pairs aged 6 to 18 years and diagnose

  16. Family violence and psychiatric disorder.

    Science.gov (United States)

    Bland, R; Orn, H

    1986-03-01

    The relationship between family violence and psychiatric disorders was examined using standardized diagnostic interviews of 1200 randomly selected residents of a large Canadian city. The results showed that higher than expected proportions of those exhibiting violent behavior had a psychiatric diagnosis and the rate of violent behaviors in those with diagnoses (54.4%) significantly (p less than .0001) exceeds the rate in the remainder of the sample (15.5%). Particularly high rates of violence are found in those where alcoholism is combined with antisocial personality disorder and/or recurrent depression (80-93%). Also at high risk for violence are those who have made suicide attempts (over 50%) and those who have been arrested for non-traffic offences (two-thirds). These data suggest that psychiatric disorders have a strong relationship to violent behavior, and are not in agreement with the predominantly sociological explanations of family violence.

  17. Concordant and discordant familial cancer: Familial risks, proportions and population impact.

    Science.gov (United States)

    Frank, Christoph; Sundquist, Jan; Yu, Hongyao; Hemminki, Akseli; Hemminki, Kari

    2017-04-01

    Relatives of cancer patients are at an increased risk of the same (concordant) cancer but whether they are at a risk for different (discordant) cancers is largely unknown - beyond well characterized hereditary cancer syndromes - but would be of major scientific and clinical interest. We therefore decided to resolve the issue by analyzing familial risks when family members were diagnosed with any discordant cancers. We compared the population impact of concordant to discordant familial cancer. The Swedish Family-Cancer Database (FCD) was used to calculate familial relative risks (RRs) for family members of cancer patients, for the 27 most common cancers. Population attributable fractions (PAFs) were estimated for concordant and discordant family histories. Discordant cancers in the family were detected as significant risk factors for the majority of cancers, although the corresponding RRs were modest compared to RRs for concordant cancers. Risks increased with the number of affected family members with the highest RRs for pancreatic (2.31), lung (1.69), kidney (1.98), nervous system (1.79) and thyroid cancers (3.28), when 5 or more family members were diagnosed with discordant cancers. For most cancers, the PAF for discordant family history exceeded that for concordant family history. Our findings suggest that there is an unspecific genetic predisposition to cancer with clinical consequences. We consider it unlikely that shared environmental risk factors could essentially contribute to the risks for diverse discordant cancers, which are likely driven by genetic predisposition. The identification of genes that moderately increase the risk for many cancers will be a challenge. © 2016 UICC.

  18. Retrospective analysis on malignant calcification previously misdiagnosed as benign on screening mammography

    Energy Technology Data Exchange (ETDEWEB)

    Ha, Su Min [Dept. of Radiology, Research Institute of Radiology, Chung Ang University Hospital, Seoul(Korea, Republic of); Cha, Joo Hee; Kim, Hak Hee; Shin, Hee Jung; Chae, Eun Young; Choi, Woo Jung [Dept. of Radiology, Research Institute of Radiology, Asan Medical Center, University of Ulsan College of Medicine, Seoul (Korea, Republic of)

    2017-04-15

    The purpose of our study was to investigate the morphology and distribution of calcifications initially interpreted as benign or probably benign, but proven to be malignant by subsequent stereotactic biopsy, and to identify the reason for misinterpretation or underestimation at the initial diagnosis. Out of 567 women who underwent stereotactic biopsy for calcifications at our hospital between January 2012 and December 2014, 167 women were diagnosed with malignancy. Forty-six of these 167 women had previous mammography assessed as benign or probably benign which was changed to suspicious malignancy on follow-up mammography. Of these 46 women, three women with biopsy-proven benign calcifications at the site of subsequent cancer were excluded, and 43 patients were finally included. The calcifications (morphology, distribution, extent, associated findings) in the previous and follow-up mammography examinations were analyzed according to the Breast Imaging Reporting and Data System (BI-RADS) lexicon and assessment category. We classified the patients into two groups: 1) group A patients who were still retrospectively re-categorized as less than or equal to BI-RADS 3 and 2) group B patients who were re-categorized as equal to or higher than BI-RADS 4a and whose results should have prompted previous diagnostic assessment. In the follow-up mammography examinations, change in calcification morphology (n = 27, 63%) was the most frequent cause of assessment change. The most frequent previous mammographic findings of malignant calcification were amorphous morphology (n = 26, 60%) and grouped distribution (n = 36, 84%). The most frequent calcification findings at reassessment were amorphous morphology (n = 4, 9%), fine pleomorphic calcification (n = 30, 70%), grouped distribution (n = 23, 53%), and segmental calcification (n = 12, 28%). There were 33 (77%) patients in group A, and 10 patients (23%) in group B. Amorphous morphology and grouped distribution were the most frequent

  19. Impact of a population‐wide mental health promotion campaign on people with a diagnosed mental illness or recent mental health problem

    National Research Council Canada - National Science Library

    Donovan, Rob; Jalleh, Geoffrey; Robinson, Katy; Lin, Chad

    2016-01-01

    Objectives : To determine the impact of the Act‐Belong‐Commit mental health promotion campaign on people with a diagnosed mental illness or who had sought professional help for a mental health problem in the previous 12 months. Method...

  20. Familial tularaemia

    Directory of Open Access Journals (Sweden)

    Peker E

    2009-01-01

    Full Text Available Tularaemia is a zoonotic disease caused by Francisella tularensis . In this report, we have presented an early stage case of tularemia with fever and pharyngitis and two cases from the same non-endemic region with typical lymphadenitis. All three patients were treated with non-specific medications in healthcare centres, the treatment being directed towards symptoms resembling those of upper respiratory tract infections. However, there was no regression in their complaints. Because the first case had been treated earlier, his lymphadenopaties regressed and there was no suppuration. The other two cases, which had been suspected to be exposed to the same pathogen based on their histories, were at a mild acute phase and presented to our clinic with typical lymphadenitis. The diagnoses of each of the three patients were made serologically. An early clinical recovery was achieved in the first patient with streptomycin (1 x 1 g/day im and doxycyline (2 x 100 mg/day peroral therapy. The therapy was prolonged to 4 weeks in the other two cases according to lymph node response and no complications occurring in their follow-ups. It can be concluded that tularaemia should be considered in the differential diagnosis of patients with fever, pharyngitis, conjunctivitis and cervical lymphadenopathies that do not respond to β -lactam antibiotics.

  1. Trefoil factor 3 (TFF3): a promising indicator for diagnosing thyroid follicular carcinoma.

    Science.gov (United States)

    Takano, Toru; Yamada, Hiroya

    2009-01-01

    Since the introduction of fine needle aspiration biopsy (FNAB) in the 1970's, a preoperative diagnostic technique for thyroid follicular carcinoma has long been awaited. Many markers that distinguish follicular carcinomas from adenomas have been reported; however, most of them have not been confirmed to be beneficial for clinical use. Trefoil factor 3 (TFF3) is a relatively new family of peptides that bears the three-loop trefoil domain. Several groups have reported that the suppression of TFF3 mRNA expression is related to malignant characteristics of thyroid follicular cell-derived tumors and the expression level of TFF3 mRNA is the most promising indicator for diagnosing follicular carcinoma. Development of TFF3-based diagnostic methods is now ongoing and it may not be long before thyroid follicular carcinoma can be diagnosed preoperatively using an aspirated sample from the tumor.

  2. Prevalence of nursing diagnoses of breastfeeding in the mother-infant dyad in basic health unit

    Directory of Open Access Journals (Sweden)

    Ocilia Maria Costa Carvalho

    2014-04-01

    Full Text Available A cross-sectional study conducted with 28 mother-infant dyads, users of a Family Health Center of Fortaleza-CE, Brazil, that aimed to identify the nursing diagnoses of breastfeeding, their frequency of occurrence, defining characteristics, and the value of maternal confidence based on the breastfeeding self-efficacy scale. Data collection happened during September and October 2010, using interviews, anamnesis, and physical examination of the dyad. The most prevalent diagnosis was Effective breastfeeding (50%. The breastfeeding self-efficacy scale revealed significance in the presence of the nursing diagnoses Effective breastfeeding and the absence of Interrupted breastfeeding. Although the diagnosis Effective breastfeeding presented a significant occurrence, we verified the need for effective actions of nurses in the breastfeeding process.

  3. Clinical, endoscopic and histopathological profiles of parasitic duodenitis cases diagnosed by upper digestive endoscopy

    OpenAIRE

    2011-01-01

    p.225-230 Context - Intestinal parasites induce detectable histopathological changes, which have been studied in groups with known diagnosis of parasitic disease. There is no available study with a larger base without previous diagnosis. Objective - To describe clinical and histopathological findings of parasitosis diagnosed by endoscopic biopsy in patients submitted to upper digestive endoscopy. Methods - Recorded biopsies archive at “Complexo Hospitalar Professor Edgar Santos”, a general...

  4. Diagnosing breast cancer using Raman spectroscopy: prospective analysis

    Science.gov (United States)

    Haka, Abigail S.; Volynskaya, Zoya; Gardecki, Joseph A.; Nazemi, Jon; Shenk, Robert; Wang, Nancy; Dasari, Ramachandra R.; Fitzmaurice, Maryann; Feld, Michael S.

    2009-01-01

    We present the first prospective test of Raman spectroscopy in diagnosing normal, benign, and malignant human breast tissues. Prospective testing of spectral diagnostic algorithms allows clinicians to accurately assess the diagnostic information contained in, and any bias of, the spectroscopic measurement. In previous work, we developed an accurate, internally validated algorithm for breast cancer diagnosis based on analysis of Raman spectra acquired from fresh-frozen in vitro tissue samples. We currently evaluate the performance of this algorithm prospectively on a large ex vivo clinical data set that closely mimics the in vivo environment. Spectroscopic data were collected from freshly excised surgical specimens, and 129 tissue sites from 21 patients were examined. Prospective application of the algorithm to the clinical data set resulted in a sensitivity of 83%, a specificity of 93%, a positive predictive value of 36%, and a negative predictive value of 99% for distinguishing cancerous from normal and benign tissues. The performance of the algorithm in different patient populations is discussed. Sources of bias in the in vitro calibration and ex vivo prospective data sets, including disease prevalence and disease spectrum, are examined and analytical methods for comparison provided. PMID:19895125

  5. Improving the Specificity of EEG for Diagnosing Alzheimer's Disease

    Directory of Open Access Journals (Sweden)

    François-B. Vialatte

    2011-01-01

    Full Text Available Objective. EEG has great potential as a cost-effective screening tool for Alzheimer's disease (AD. However, the specificity of EEG is not yet sufficient to be used in clinical practice. In an earlier study, we presented preliminary results suggesting improved specificity of EEG to early stages of Alzheimer's disease. The key to this improvement is a new method for extracting sparse oscillatory events from EEG signals in the time-frequency domain. Here we provide a more detailed analysis, demonstrating improved EEG specificity for clinical screening of MCI (mild cognitive impairment patients. Methods. EEG data was recorded of MCI patients and age-matched control subjects, in rest condition with eyes closed. EEG frequency bands of interest were θ (3.5–7.5 Hz, α1 (7.5–9.5 Hz, α2 (9.5–12.5 Hz, and β (12.5–25 Hz. The EEG signals were transformed in the time-frequency domain using complex Morlet wavelets; the resulting time-frequency maps are represented by sparse bump models. Results. Enhanced EEG power in the θ range is more easily detected through sparse bump modeling; this phenomenon explains the improved EEG specificity obtained in our previous studies. Conclusions. Sparse bump modeling yields informative features in EEG signal. These features increase the specificity of EEG for diagnosing AD.

  6. Diagnosing Hybrid Systems: a Bayesian Model Selection Approach

    Science.gov (United States)

    McIlraith, Sheila A.

    2005-01-01

    In this paper we examine the problem of monitoring and diagnosing noisy complex dynamical systems that are modeled as hybrid systems-models of continuous behavior, interleaved by discrete transitions. In particular, we examine continuous systems with embedded supervisory controllers that experience abrupt, partial or full failure of component devices. Building on our previous work in this area (MBCG99;MBCG00), our specific focus in this paper ins on the mathematical formulation of the hybrid monitoring and diagnosis task as a Bayesian model tracking algorithm. The nonlinear dynamics of many hybrid systems present challenges to probabilistic tracking. Further, probabilistic tracking of a system for the purposes of diagnosis is problematic because the models of the system corresponding to failure modes are numerous and generally very unlikely. To focus tracking on these unlikely models and to reduce the number of potential models under consideration, we exploit logic-based techniques for qualitative model-based diagnosis to conjecture a limited initial set of consistent candidate models. In this paper we discuss alternative tracking techniques that are relevant to different classes of hybrid systems, focusing specifically on a method for tracking multiple models of nonlinear behavior simultaneously using factored sampling and conditional density propagation. To illustrate and motivate the approach described in this paper we examine the problem of monitoring and diganosing NASA's Sprint AERCam, a small spherical robotic camera unit with 12 thrusters that enable both linear and rotational motion.

  7. Electropotential evaluation as a new technique for diagnosing breast lesions.

    Science.gov (United States)

    Faupel, M; Vanel, D; Barth, V; Davies, R; Fentiman, I S; Holland, R; Lamarque, J L; Sacchini, V; Schreer, I

    1997-01-01

    A new approach, termed the Biofield test, may have the potential to augment the process of diagnosing breast cancer. This technique is based on the analysis of skin surface electrical potentials measured by an array of specially designed sensors which are placed on the breasts. Measurements are recorded noninvasively and then analyzed using pattern recognition algorithms to produce an immediate and objective assessment of breast tissue in vivo. Initial clinical trials suggests that the test can achieve a sensitivity of approximately 90% and a specificity of 40-50%, which indicates that the test might be useful for excluding cancer when it is, in fact, absent. Although research to date has focused on the differential diagnosis of suspicious breast lesions, future applications could include breast cancer screening, close surveillance and diagnosis of recurrent cancers in breasts previously treated with conservative therapy, and monitoring the effectiveness of breast cancer therapies. Improvements and new applications are expected to occur as additional research and validation in actual clinical settings is performed.

  8. Methylphenidate improves motor functions in children diagnosed with Hyperkinetic Disorder

    Science.gov (United States)

    Stray, Liv Larsen; Stray, Torstein; Iversen, Synnøve; Ruud, Anne; Ellertsen, Bjørn

    2009-01-01

    Background A previous study showed that a high percentage of children diagnosed with Hyperkinetic Disorder (HKD) displayed a consistent pattern of motor function problems. The purpose of this study was to investigate the effect of methylphenidate (MPH) on such motor performance in children with HKD Methods 25 drug-naïve boys, aged 8–12 yr with a HKD-F90.0 diagnosis, were randomly assigned into two groups within a double blind cross-over design, and tested with a motor assessment instrument, during MPH and placebo conditions. Results The percentage of MFNU scores in the sample indicating 'severe motor problems' ranged from 44–84%, typically over 60%. Highly significant improvements in motor performance were observed with MPH compared to baseline ratings on all the 17 subtests of the MFNU 1–2 hr after administration of MPH. There were no significant placebo effects. The motor improvement was consistent with improvement of clinical symptoms. Conclusion The study confirmed our prior clinical observations showing that children with ADHD typically demonstrate marked improvements of motor functions after a single dose of 10 mg MPH. The most pronounced positive MPH response was seen in subtests measuring either neuromotor inhibition, or heightened muscular tone in the gross movement muscles involved in maintaining the alignment and balance of the body. Introduction of MPH generally led to improved balance and a generally more coordinated and controlled body movement. PMID:19439096

  9. Methylphenidate improves motor functions in children diagnosed with Hyperkinetic Disorder

    Directory of Open Access Journals (Sweden)

    Iversen Synnøve

    2009-05-01

    Full Text Available Abstract Background A previous study showed that a high percentage of children diagnosed with Hyperkinetic Disorder (HKD displayed a consistent pattern of motor function problems. The purpose of this study was to investigate the effect of methylphenidate (MPH on such motor performance in children with HKD Methods 25 drug-naïve boys, aged 8–12 yr with a HKD-F90.0 diagnosis, were randomly assigned into two groups within a double blind cross-over design, and tested with a motor assessment instrument, during MPH and placebo conditions. Results The percentage of MFNU scores in the sample indicating 'severe motor problems' ranged from 44–84%, typically over 60%. Highly significant improvements in motor performance were observed with MPH compared to baseline ratings on all the 17 subtests of the MFNU 1–2 hr after administration of MPH. There were no significant placebo effects. The motor improvement was consistent with improvement of clinical symptoms. Conclusion The study confirmed our prior clinical observations showing that children with ADHD typically demonstrate marked improvements of motor functions after a single dose of 10 mg MPH. The most pronounced positive MPH response was seen in subtests measuring either neuromotor inhibition, or heightened muscular tone in the gross movement muscles involved in maintaining the alignment and balance of the body. Introduction of MPH generally led to improved balance and a generally more coordinated and controlled body movement.

  10. Homicide and domestic violence. Are there different psychological profiles mediated by previous exerted on the victim?

    Directory of Open Access Journals (Sweden)

    Montserrat Yepes

    2009-07-01

    Full Text Available A sample of 46 men was evaluated with the DAPP (Questionnaire of Domestic Aggressor Psychological Profile. All were inmates convicted for various degrees of violence against their wives in different prisons. The sample was divided into three groups: homicides without previous violence against their wives (H (n=11, homicides with previous violence (VH (n=9 and domestic batterers without previous homicide attempts against their partners (B (n=26. The aim of the study was to analyze the possible existence of three different kinds of profiles and more specifically if it’s possible to obtain an independent profile for domestic homicides with previous episodes of violence against their wives. The results neither confirm the hypothesis as whole nor for the violent homicides. However, differences between groups were obtained in the admission and description of the facts, in the risk of future violence, in some sociodemographical characteristics (i.e., level of education, social status, in the couple relationship, in the dissatisfaction concerning the unachieved ideal woman, in the use of extreme physical force during the aggression, the time of the first aggression, the use of verbal threats during the aggression, explanation of the events to the family and the period of time between the beginning of the romantic relationship and the manifestation of violence. The implications of the results for the theoretical frameworks proposed and future research are discussed.

  11. Family pediatrics: report of the Task Force on the Family.

    Science.gov (United States)

    Schor, Edward L

    2003-06-01

    female-headed families than for married-couple families. The comped families than for married-couple families. The composition of children's families and the time parents have for their children affect child rearing. Consequent to the increase in female-headed households, rising economic and personal need, and increased opportunities for women, the proportion of mothers who are in the workforce has climbed steadily over the past several decades. Currently, approximately two thirds of all mothers with children younger than 18 years are employed. Most families with young children depend on child care, and most child care is not of good quality. Reliance on child care involves longer days for children and families, the stress imposed by schedules and created by transitions, exposure to infections, and considerable cost. An increasing number and proportion of parents are also devoting time previously available to their children to the care of their own parents. The so-called "sandwich generation" of parents is being pulled in multiple directions. The amount and use of family time also has changed with a lengthening workday, including the amount of commuting time necessary to travel between work and home, and with the intrusion of television and computers into family life. In public opinion polls, most parents report that they believe it is more difficult to be a parent now than it used to be; people seem to feel more isolated, social and media pressures on and enticements of their children seem greater, and the world seems to be a more dangerous place. Social and public policy has not kept up with these changes, leaving families stretched for time and stressed to cope and meet their responsibilities. What can and what should pediatrics do to help families raise healthy and well-adjusted children? How can individual pediatricians better support families? FAMILY PEDIATRICS: The American Academy of Pediatrics (AAP) Board of Directors appointed the Task Force on the Family to

  12. A case of taeniasis diagnosed postpartum.

    Science.gov (United States)

    Noss, Matthew R; Gilmore, Katherine; Wittich, Arthur C

    2013-04-01

    A case of postpartum taeniasis will be discussed along with the pathophysiology, proper treatment, potential risks, and prevention of taeniasis infections to the pregnant mother, her infant, and her family members. Taenia spp. infections are relatively rare in developed societies. Increasing immigration to developed countries and an expanding role of medical aid in developing countries will lead to an increase in the number of taeniasis cases seen by medical providers. Taenia solium and T. saginata are the most common species and can be differentiated by proglottids (a segment of a tapeworm containing both male and female reproductive organs) or scolex (the head of a tapeworm which attaches to the intestine of the definitive host). Both carry different risks when considering autoinfection and transmission. Cystercercosis caused by T. solium is a risk for neonates and is cause for immediate treatment of the mother. A 23-year-old new mother, originally from Ethiopia, passed T. strobili shortly after giving birth. Her pregnancy was complicated by limited prenatal care. She did not experience any symptoms related to tapeworm infection. The patient received treatment with praziquantel. With a possible future increase in the number of cases seen by health care providers, understanding the risks of Taenia sp. infection is important as proper treatment and education are needed to halt the life cycle of the tapeworm before more serious infection ensues.

  13. HEART TRANSPLANTATION IN PATIENTS WITH PREVIOUS OPEN HEART SURGERY

    Directory of Open Access Journals (Sweden)

    R. Sh. Saitgareev

    2016-01-01

    Full Text Available Heart Transplantation (HTx to date remains the most effective and radical method of treatment of patients with end-stage heart failure. The defi cit of donor hearts is forcing to resort increasingly to the use of different longterm mechanical circulatory support systems, including as a «bridge» to the follow-up HTx. According to the ISHLT Registry the number of recipients underwent cardiopulmonary bypass surgery increased from 40% in the period from 2004 to 2008 to 49.6% for the period from 2009 to 2015. HTx performed in repeated patients, on the one hand, involves considerable technical diffi culties and high risks; on the other hand, there is often no alternative medical intervention to HTx, and if not dictated by absolute contradictions the denial of the surgery is equivalent to 100% mortality. This review summarizes the results of a number of published studies aimed at understanding the immediate and late results of HTx in patients, previously underwent open heart surgery. The effect of resternotomy during HTx and that of the specifi c features associated with its implementation in recipients previously operated on open heart, and its effects on the immediate and long-term survival were considered in this review. Results of studies analyzing the risk factors for perioperative complications in repeated recipients were also demonstrated. Separately, HTx risks after implantation of prolonged mechanical circulatory support systems were examined. The literature does not allow to clearly defi ning the impact factor of earlier performed open heart surgery on the course of perioperative period and on the prognosis of survival in recipients who underwent HTx. On the other hand, subject to the regular fl ow of HTx and the perioperative period the risks in this clinical situation are justifi ed as a long-term prognosis of recipients previously conducted open heart surgery and are comparable to those of patients who underwent primary HTx. Studies

  14. Clinical Analysis of Placenta Previa Complicated with Previous Caesarean Section

    Institute of Scientific and Technical Information of China (English)

    Liang-kun Ma; Na Han; Jian-qiu Yang; Xu-ming Bian; Jun-tao Liu

    2012-01-01

    Objective To investigate the clinical features and treatment of placenta previa complicated with previous caesarean section.Methods The clinical data of 29 patients with placenta previa complicated with a previous caesarean section (RCS group) admitted in Peking Union Medical College Hospital during a period from 2003 to 2011 were retrospectively reviewed and compared with those of 243 patients with placenta previa without a previous caesarean section (FCS group) during the same period.Results There was no difference in the mean age (28.9±3.6 vs.28.1±4.5 years) and the average gravidity (2.35 ± 1.48 vs.2.21 ± 1.53) between RCS group and FCS group (all P>0.05).The RCS group had more preterm births (24.1% vs.13.2%),complete placenta previa (55.2% vs.4.9%),placenta accreta (34.5% vs.2.5%),more blood loss during caesarean section (1412±602 vs.648 ±265 mL),blood transfusion (51.7% vs.4.9%),disseminated intravascular coagulation (13.8% vs.2.1%),and obstetric hysterectomy ( 13.8 % vs.0.8 %) than the F C S group (all P< 0.05).The preterm infant rate ( 30.0% vs.13.0%),neonatal asphyxia rate (10.0% vs.4.9%),and perinatal mortality rate (6.7% vs.0.4%) of the RCS group were higher than those of the FCS group (all P<0.05).Conclusions More patients had complete placenta previa and placenta accreta,postpartum hemorrhage,transfusion,uterine packing,obstetric hysterectomy,and perinatal morbidity in the placenta previa patients with previous caesarean section.The patient should be informed of the risk and unnecessary first cesarean sections should be avoided.

  15. Antenatal diagnosis of Patau syndrome with previous anomalous baby

    Directory of Open Access Journals (Sweden)

    Keerthi Kocherla

    2014-06-01

    Full Text Available Patau syndrome is the least common and most severe of the viable autosomal trisomies with median survival of fewer than 3 days was first identified as a cytogenetic syndrome in 1960. Patau syndrome is caused by an extra copy of chromosome 13. In this case report, we present antenatal imaging findings and gross foetal specimen correlation of foetus with Patau syndrome confirmed by karyotyping in third gravida who had significant previous obstetric history of gastrochisis in monochorionic and monoamniotic twins who died at 14 weeks of gestation. [Int J Res Med Sci 2014; 2(3.000: 1172-1175

  16. Roles within the Family

    Science.gov (United States)

    ... Life Listen Español Text Size Email Print Share Roles Within the Family Page Content Article Body Families ... family unit, and which rights, privileges, obligations, and roles are assigned to each family member. In most ...

  17. Families of Individuals with Intellectual Disability and Comorbid Mental Health Problems

    Science.gov (United States)

    Esbensen, Anna J.

    2011-01-01

    This review focuses on the families of individuals dually diagnosed with intellectual disability (ID) and comorbid mental health problems. The review examines the impact of caring for individuals with ID and comorbid mental health problems on family well-being, the impact of the family on these individuals, and intervention and support needs of…

  18. Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia

    NARCIS (Netherlands)

    Azam, M.; Collin, R.W.J.; Shah, S.T.; Shah, A.A.; Khan, M.I.; Hussain, A.; Sadeque, A.; Strom, T.M.; Thiadens, A.A.H.J.; Roosing, S.; Hollander, A.I. den; Cremers, F.P.M.; Qamar, R.

    2010-01-01

    PURPOSE: To identify the genetic defect in two Pakistani families with autosomal recessive achromatopsia. METHODS: Two families (RP26 and RP44) were originally diagnosed with retinal dystrophy based upon their medical history. To localize the causative genes in these families, homozygosity mapping w

  19. Approach to atopic dermatitis in children by the Family Physician

    Directory of Open Access Journals (Sweden)

    Alysson Quitério Guilherme

    2014-05-01

    Full Text Available Atopic dermatitis (AD is a chronic and inflammatory disease that affects the skin of children in their early stages of life. Its aetiology remains little understood, but it is known that there is a dysfunction of the skin barrier, which facilitates the penetration of allergens/irritants into the epidermis, causing an inflammatory response with a predominance of Th2 response relative to Th1. The diagnosis is clinical and may be associated with previous and family medical history of atopies such as rhinitis and asthma. AD manifests itself through eczematous, pruritic injuries with the presence of erythema, papules, vesicles, and scales. The main differential diagnoses of AD are seborrheic dermatitis, contact dermatitis, psoriasis and scabies. The treatment is based on the education of patients and their families, plus the control of pruritus with antihistamines and of inflammation with corticosteroids or calcineurin inhibitors. Given the high prevalence and impact of AD on the quality of life of paediatric patients, early diagnosis and an individualized approach are paramount.

  20. Familial Risks of Kidney Failure in Sweden: A Nationwide Family Study

    OpenAIRE

    2014-01-01

    BACKGROUND: The value of family history as a risk factor for kidney failure has not been determined in a nationwide setting. AIM: This nationwide family study aimed to determine familial risks for kidney failure in Sweden. METHODS: The Swedish multi-generation register on 0-78-year-old subjects were linked to the Swedish patient register and the Cause of death register for 1987-2010. Individuals diagnosed with acute kidney failure (n = 10063), chronic kidney failure (n = 18668), or unspecifie...