Do attitudes of families concerned influence features of children who claim to remember previous lives?

Science.gov (United States)

Pasricha, Satwant K

2011-01-01

Reported cases of nearly 2600 children (subjects) who claim to remember previous lives have been investigated in cultures with and without belief in reincarnation. The authenticity in most cases has been established. To study the influence of attitudes of parents of the subjects, families of the deceased person with whom they are identified and attention paid by others on the features of the cases. The study is based on field investigations. Data is derived from analysis of a larger series of an ongoing project. Information on initial and subsequent attitudes of subjects' mothers was available for 292 and 136 cases, respectively; attitudes of 227 families of deceased person (previous personality) with whom he is identified, and the extent of attention received from outsiders for 252 cases. Observations and interviews with multiple firsthand informants on both sides of the case as well as some neutral informants supplemented by examination of objective data were the chief methods of investigation. The initial attitude of mothers varied from encouragement (21%) to neutral or tolerance (51%) to discouragement (28%). However, it changed significantly from neutrality to taking measures to induce amnesia in their children for previous life memories due to various psychosocial pressures and prevalent beliefs. Families of the previous personalities, once convinced, showed complete acceptance in a majority of cases. Outside attention was received in 58% cases. The positive attitude of parents might facilitate expression of memories but subsequently attitudes of persons concerned do not seem to alter features of the cases.

Differences between previously married and never married 'gay' men: family background, childhood experiences and current attitudes.

Science.gov (United States)

Higgins, Daryl J

2004-01-01

Despite a large body of literature on the development of sexual orientation, little is known about why some gay men have been (or remain) married to a woman. In the current study, a self-selected sample of 43 never married gay men ('never married') and 26 gay men who were married to a woman ('previously married') completed a self-report questionnaire. Hypotheses were based on five possible explanations for gay men's marriages: (a) differences in sexual orientation (i.e., bisexuality); (b) internalized homophobia; (c) religious intolerance; (d) confusion created because of childhood/adolescent sexual experiences; and/or (e) poor psychological adjustment. Previously married described their families' religious beliefs as more fundamentalist than never married. No differences were found between married' and never married' ratings of their sexual orientation and identity, and levels of homophobia and self-depreciation. Family adaptability and family cohesion and the degree to which respondents reported having experienced child maltreatment did not distinguish between previously married and never married. The results highlight how little is understood of the reasons why gay men marry, and the need to develop an adequate theoretical model.

Psychometric Properties of the Beach Center Family Quality of Life in French-Speaking Families With a Preschool-Aged Child Diagnosed With Autism Spectrum Disorder.

Science.gov (United States)

Rivard, Mélina; Mercier, Céline; Mestari, Zakaria; Terroux, Amélie; Mello, Catherine; Bégin, Jean

2017-09-01

The Beach Center Family Quality of Life Scale (Beach Center FQOL) is used to evaluate and develop family-centered intervention services. However, its use with families of children with autism spectrum disorder (ASD) and in non-English speaking populations requires further investigation. The present study sought to assess the psychometric properties of a French translation of this scale on 452 parents of children aged 5 and under who were recently diagnosed with ASD. The resulting Satisfaction and Importance scales presented excellent internal consistency at the scale level and acceptable internal consistency at the subscale level. Theoretical model positing 5 dimensions of FQOL generally fit the data acceptably. Satisfaction ratings were found to be sensitive to changes and were negatively correlated with parenting stress.

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.

Previous experience of family violence and intimate partner violence in pregnancy.

Science.gov (United States)

Ludermir, Ana Bernarda; Araújo, Thália Velho Barreto de; Valongueiro, Sandra Alves; Muniz, Maria Luísa Corrêa; Silva, Elisabete Pereira

2017-01-01

To estimate differential associations between the exposure to violence in the family of origin and victimization and perpetration of intimate partner violence in pregnancy. A nested case-control study was carried out within a cohort study with 1,120 pregnant women aged 18-49 years old, who were registered in the Family Health Strategy of the city of Recife, State of Pernambuco, Brazil, between 2005 and 2006. The cases were the 233 women who reported intimate partner violence in pregnancy and the controls were the 499 women who did not report it. Partner violence in pregnancy and previous experiences of violence committed by parents or other family members were assessed with a standardized questionnaire. Multivariate logistic regression analyses were modeled to identify differential associations between the exposure to violence in the family of origin and victimization and perpetration of intimate partner violence in pregnancy. Having seen the mother suffer intimate partner violence was associated with physical violence in childhood (OR = 2.62; 95%CI 1.89-3.63) and in adolescence (OR = 1.47; 95%CI 1.01-2.13), sexual violence in childhood (OR = 3.28; 95%CI 1.68-6.38) and intimate partner violence during pregnancy (OR = 1.47; 95% CI 1.01 - 2.12). The intimate partner violence during pregnancy was frequent in women who reported more episodes of physical violence in childhood (OR = 2.08; 95%CI 1.43-3.02) and adolescence (OR = 1.63; 95%CI 1.07-2.47), who suffered sexual violence in childhood (OR = 3.92; 95%CI 1.86-8.27), and who perpetrated violence against the partner (OR = 8.67; 95%CI 4.57-16.45). Experiences of violence committed by parents or other family members emerge as strong risk factors for intimate partner violence in pregnancy. Identifying and understanding protective and risk factors for the emergence of intimate partner violence in pregnancy and its maintenance may help policymakers and health service managers to develop intervention strategies.

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

Science.gov (United States)

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

2017-03-01

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) experimentally manipulated family size negatively affected the ability of parents to compete for preferred breeding boxes in the next spring. The fact that survival was affected in winter suggests that the competitive ability of parents in winter may also be affected by previous reproductive effort. In this study, we aim to investigate whether (1) such carryover effects of family size on the ability of parents to compete for resources in the winter period occurred and (2) this could explain the occurrence of a survival cost of reproduction under increased competition. During two study years, we manipulated the size of in total 168 great tit broods. Next, in winter, we induced competition among the parents by drastically reducing the availability of roosting boxes in their local environment for one week. Contrary to our expectation, we found no negative effect of family size manipulation on the probability of parents to obtain a roosting box. In line with previous work, we did find that a survival cost of reproduction was paid only in plots in which competition for roosting boxes was shortly increased. Our findings thus add to the scarce experimental evidence that survival cost of reproduction are paid under higher levels of local competition but this could not be linked to a reduced competitive ability of parents in winter.

Familial risks of glomerulonephritis - a nationwide family study in Sweden.

Science.gov (United States)

Akrawi, Delshad Saleh; Li, Xinjun; Sundquist, Jan; Fjellstedt, Erik; Sundquist, Kristina; Zöller, Bengt

2016-08-01

Familial risks of glomerulonephritis (acute, chronic and unspecified glomerulonephritis) have not been studied. This study aims to determine the familial risks of glomerulonephritis. Individuals born from1932 onwards diagnosed with glomerulonephritis (acute [n = 7011], chronic [n = 10,242] and unspecified glomerulonephritis [n = 5762]) were included. The familial risk (Standardized incidence ratio = SIR) was calculated for individuals whose parents/full-siblings were diagnosed with glomerulonephritis compared to those whose parents/full-siblings were not. The procedure was repeated for spouses. Familial concordant risk (same disease in proband and exposed relative) and discordant risk (different disease in proband and exposed relative) of glomerulonephritis were determined. Familial concordant risks (parents/full-sibling history) were: SIR = 3.57 (95% confidence interval, 2.77-4.53) for acute glomerulonephritis, SIR = 3.84 (3.37-4.36) for chronic glomerulonephritis and SIR = 3.75 (2.85-4.83) for unspecified glomerulonephritis. High familial risks were observed if two or more relatives were affected; the SIR was 209.83 (150.51-284.87) in individuals with at least one affected parent as well as one full-sibling. The spouse risk was only moderately increased (SIR = 1.53, 1.33-1.75). Family history of glomerulonephritis is a strong predictor for glomerulonephritis, and is a potentially useful tool in clinical risk assessment. Our data emphasize the contribution of familial factors to the glomerulonephritis burden in the community. Key Messages The familial risks (full-sibling/parent history) of glomerulonephritis (acute, chronic and unspecified glomerulonephritis) have not been determined previously. The familial risks of glomerulonephritis were increased among individuals with family history of acute, chronic or unspecified glomerulonephritis. The familial risks of glomerulonephritis were slightly increased among spouses indicating a

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

Familial cerebral cavernous haemangioma diagnosed in an infant with a rapidly growing cerebral lesion

International Nuclear Information System (INIS)

Ng, B.H.K.; Pereira, J.K.; Ghedia, S.; Pinner, J.; Mowat, D.; Vonau, M.

2006-01-01

Cavernous haemangiomas of the central nervous system are vascular malformations best imaged by MRI. They may present at any age, but to our knowledge only 39 cases in the first year of life have previously been reported. A familial form has been described and some of the underlying genetic mutations have recently been discovered. We present the clinical features and serial MRI findings of an 8-week-old boy who presented with subacute intracranial haemorrhage followed by rapid growth of a surgically proven cavernous haemangioma, mimicking a tumour. He also developed new lesions. A strong family history of neurological disease was elucidated. A familial form of cavernous haemangioma was confirmed by identification of a KRIT 1 gene mutation and cavernous haemangiomas in the patient and other family members. We stress the importance of considering cavernous haemangiomas in the context of intracerebral haemorrhage and in the differential diagnosis of rapidly growing lesions in this age group. The family history is also important in screening for familial disease

Familial Pallister-Hall in adulthood.

Science.gov (United States)

Talsania, Mitali; Sharma, Rohan; Sughrue, Michael E; Scofield, R Hal; Lim, Jonea

2017-10-01

Pallister Hall syndrome is autosomal dominant disorder usually diagnosed in infants and children. Current diagnostic criteria include presence of hypothalamic hamartoma, post axial polydactyly and positive family history, but the disease has variable manifestations. Herein we report Pallister Hall syndrome diagnosed in a family where both patients were adults. A 59 year old man developed seizures 4 years prior to our evaluation of him, at which time imaging showed a hypothalamic hamartoma. The seizures were controlled medically. He did well until he had visual changes after a traumatic head injury. Repeat MRI showed slight expansion of the mass with formal visual field testing demonstrating bitemporal hemianopsia. There was no evidence of pituitary dysfunction except for large urine volume. He underwent surgery to debulk the hamartoma and the visual field defects improved. There was no hypopituitarism post-operatively, and the polydyspia resolved. His 29 year old daughter also had seizures and hypothalamic hamartoma. Both patients had had polydactyly with prior surgical correction in childhood. The daughter underwent genetic testing, which revealed a previously undescribed heterozygous single base pair deletion in exon 13 of the GLI3 gene causing a frameshift mutation. Further investigation into family history revealed multiple members in previous generations with polydactyly and/or seizures. Pallister-Hall syndrome is caused by an inherited autosomal dominant or de novo mutation in GLI3 gene. This rare syndrome has not had prevalence defined, however. Generally, diagnoses are made in the pediatric population. Our report adds to the few cases detected in adulthood.

Previous experience of family violence and intimate partner violence in pregnancy

Directory of Open Access Journals (Sweden)

Ana Bernarda Ludermir

2017-09-01

Full Text Available ABSTRACT OBJECTIVE To estimate differential associations between the exposure to violence in the family of origin and victimization and perpetration of intimate partner violence in pregnancy. METHODS A nested case-control study was carried out within a cohort study with 1,120 pregnant women aged 18–49 years old, who were registered in the Family Health Strategy of the city of Recife, State of Pernambuco, Brazil, between 2005 and 2006. The cases were the 233 women who reported intimate partner violence in pregnancy and the controls were the 499 women who did not report it. Partner violence in pregnancy and previous experiences of violence committed by parents or other family members were assessed with a standardized questionnaire. Multivariate logistic regression analyses were modeled to identify differential associations between the exposure to violence in the family of origin and victimization and perpetration of intimate partner violence in pregnancy. RESULTS Having seen the mother suffer intimate partner violence was associated with physical violence in childhood (OR = 2.62; 95%CI 1.89–3.63 and in adolescence (OR = 1.47; 95%CI 1.01–2.13, sexual violence in childhood (OR = 3.28; 95%CI 1.68–6.38 and intimate partner violence during pregnancy (OR = 1.47; 95% CI 1.01 – 2.12. The intimate partner violence during pregnancy was frequent in women who reported more episodes of physical violence in childhood (OR = 2.08; 95%CI 1.43–3.02 and adolescence (OR = 1.63; 95%CI 1.07–2.47, who suffered sexual violence in childhood (OR = 3.92; 95%CI 1.86–8.27, and who perpetrated violence against the partner (OR = 8.67; 95%CI 4.57–16.45. CONCLUSIONS Experiences of violence committed by parents or other family members emerge as strong risk factors for intimate partner violence in pregnancy. Identifying and understanding protective and risk factors for the emergence of intimate partner violence in pregnancy and its maintenance may help

Nuclear Magnetic Resonance skull in Cuban families first diagnosed with Friedreich's ataxia

International Nuclear Information System (INIS)

Cruz Marinno, Tania; Alvarez Cuesta, Jose Alberto; Aguilera Rodriguez, Raul; Velazquez Perez, Luis

2011-01-01

Friedreich's ataxia is characterized by age of onset before 25 years, progressive ataxia, dysarthria, absent deep tendon reflexes and impaired vibration sense. This research was conducted in order to describe the imaging features of central nervous system structures in the early Cuban families diagnosed with the disease. A team of 0.23 Tesla-PANORAMA-Phylips Medical Systems, with a standard head coil, axial slices were obtained using 5mm thick FLAIR sequences, T1 and T2, and sagittal T1 and T2 in three individuals with confirmatory molecular diagnosis of Friedreich's ataxia and six healthy controls matched by age and sex. The morphological structures most affected are the cervical spinal cord, cerebellum and pons, which provides in vivo evidence that the disease leads to atrophy of these structures

ADHD: the impact when not diagnosed

OpenAIRE

Souza,Isabella de; Mattos,Paulo; Pina,Camila; Fortes,Didia

2008-01-01

ADHD is a highly prevalent disorder in childhood with social, academic and familial difficulties when not diagnosed and treated correctly. The aim of this case report is to demonstrate the impairment of ADHD among generations of the same family.

Multigenerational Brazilian family with malignant hyperthermia and a novel mutation in the RYR1 gene.

Science.gov (United States)

Matos, A R; Sambuughin, N; Rumjanek, F D; Amoedo, N D; Cunha, L B P; Zapata-Sudo, G; Sudo, R T

2009-12-01

Malignant hyperthermia (MH) is a pharmacogenetic disease triggered in susceptible individuals by the administration of volatile halogenated anesthetics and/or succinylcholine, leading to the development of a hypermetabolic crisis, which is caused by abnormal release of Ca2+ from the sarcoplasmic reticulum, through the Ca2+ release channel ryanodine receptor 1 (RyR1). Mutations in the RYR1 gene are associated with MH in the majority of susceptible families. Genetic screening of a 5-generation Brazilian family with a history of MH-related deaths and a previous MH diagnosis by the caffeine halothane contracture test (CHCT) in some individuals was performed using restriction and sequencing analysis. A novel missense mutation, Gly4935Ser, was found in an important functional and conserved locus of this gene, the transmembrane region of RyR1. In this family, 2 MH-susceptible individuals previously diagnosed with CHCT carry this novel mutation and another 24 not previously diagnosed members also carry it. However, this same mutation was not found in another MH-susceptible individual whose CHCT was positive to the test with caffeine but not to the test with halothane. None of the 5 MH normal individuals of the family, previously diagnosed by CHCT, carry this mutation, nor do 100 controls from control Brazilian and USA populations. The Gly4932Ser variant is a candidate mutation for MH, based on its co-segregation with disease phenotype, absence among controls and its location within the protein.

A classical Ehlers-Danlos syndrome family with incomplete presentation diagnosed by molecular testing.

Science.gov (United States)

Colombi, Marina; Dordoni, Chiara; Cinquina, Valeria; Venturini, Marina; Ritelli, Marco

2018-01-01

The 2017 EDS revised nosology indicates that minimal criteria suggestive for classical Ehlers-Danlos syndrome (cEDS) are skin hyperextensibility plus atrophic scarring together with either generalized joint hypermobility (gJHM) and/or at least three minor criteria that include cutaneous features and gJHM complications. Confirmatory molecular testing is obligatory to reach a final diagnosis. Although the large majority of the patients presents with these clinical features, some do not and might remain undiagnosed or misdiagnosed. Here we describe a family with 2 affected members, a 23-year-old proposita and her 51-year-old mother, who presented subtle cutaneous signs, including a variable degree of skin hyperextensibility without extensive widened atrophic scars that apparently better fitted with the overlapping hypermobile EDS. The proposita also presented gastrointestinal symptoms secondary to aberrant mast cells mediators release, making the clinical picture even more puzzling. Both patients were diagnosed by molecular testing that revealed a COL5A1 splice mutation. This report highlights the relevance of molecular analysis in patients presenting rather mild signs of EDS, especially in familial cases, and the importance of clinical expertise to make such a diagnosis. Copyright © 2017. Published by Elsevier Masson SAS.

Morphological diagnoses of higher taxa in Ophiuroidea (Echinodermata in support of a new classification

Directory of Open Access Journals (Sweden)

Timothy D. O'Hara

2018-03-01

Full Text Available A new classification of Ophiuroidea, considering family rank and above, is presented. The new family and superfamily taxa in O’Hara et al. (2017 were proposed to ensure a better readability of the new phylogeny but are unavailable under the provisions of the ICZN. Here, the morphological diagnoses to all 33 families and five superfamilies are provided. Ten new families, Ophiosphalmidae fam. nov., Ophiomusaidae fam. nov., Ophiocamacidae fam. nov., Ophiopteridae fam. nov., Clarkcomidae fam. nov., Ophiopezidae fam. nov., Ophiernidae fam. nov., Amphilimnidae fam. nov., Ophiothamnidae fam. nov. and Ophiopholidae fam. nov., are described. The family Ophiobyrsidae Matsumoto, 1915, not yet discovered in the previous publication, is added, based on new molecular data. A new phylogenetic reconstruction is presented. Definitions of difficult-to-apply morphological characters are given.

Mutations in BRCA1 and BRCA2 Uruguayan families with breast / ovarian

International Nuclear Information System (INIS)

Delgado, L.; Fernández, G.; González, A.; Cataldi, S.; Castillo, C.; Heguaburu, M.; Lluberas, N.; Sabini, G.; Roca, R.; Musé, I.; Bressac-de Paillerets, B.; Bombled, J.

2004-01-01

Germline mutations in BRCA1 and BRCA2 are associated with susceptibility hereditary to breast (CM) and ovarian cancer (OC). The proportion of high risk families carrying mutations in BRCA1 / 2 (20% -70%) and the spectrum of mutations are variable and dependent on the location and type of families studied. In this communication we update our results on the frequency and type of mutations in BRCA1 / 2 families in Uruguayan breast / ovarian cancer. Patients and methods. 39 selected families were included in the study from patients referred to the Unit of the Hospital de Clinicas Oncogene tics for genetic risk assessment and who had at least 3 cases of CM (at least one diagnosed before age 50) or 2 cases with any of the following sub: Parental transmittance, bilateral breast cancer, breast cancer male, ovarian cancer. Results. 8 8 families different mutations (20%), 6 were identified in BRCA1 and BRCA2 2, all resulting in premature termination codon. Regarding family history, 33 families had history of CM and 6 remaining history of CM and CO. Among the first 6 mutations diagnosed (Five in BRCA1 and one in BRCA2) and between the latter 2 mutations (1 in BRCA1 and 1 in BRCA2). Regarding the index cases, all BRCA2 mutations were detected in patients in whom the disease was diagnosed before the 50, 5 of them carrying CM and CO. The BRCA1 were found in a patient with CO diagnosed at age 55 and a patient with CM diagnosed before 50 years. Conclusions. The proportion of flamilies with BRCA1 / 2 is of agreement with that reported in previous studies involving selected families based on similar criteria, but the relative frequency of engagement

Patient/Family Education for Newly Diagnosed Pediatric Oncology Patients: Consensus Recommendations from a Children’s Oncology Group Expert Panel

Science.gov (United States)

Landier, Wendy; Ahern, JoAnn; Barakat, Lamia P.; Bhatia, Smita; Bingen, Kristin M.; Bondurant, Patricia G.; Cohn, Susan L.; Dobrozsi, Sarah K.; Haugen, Maureen; Herring, Ruth Anne; Hooke, Mary C.; Martin, Melissa; Murphy, Kathryn; Newman, Amy R.; Rodgers, Cheryl C.; Ruccione, Kathleen S.; Sullivan, Jeneane; Weiss, Marianne; Withycombe, Janice; Yasui, Lise; Hockenberry, Marilyn

2016-01-01

There is a paucity of data to support evidence-based practices in the provision of patient/family education in the context of a new childhood cancer diagnosis. Since the majority of children with cancer are treated on pediatric oncology clinical trials, lack of effective patient/family education has the potential to negatively affect both patient and clinical trial outcomes. The Children’s Oncology Group Nursing Discipline convened an interprofessional expert panel from within and beyond pediatric oncology to review available and emerging evidence and develop expert consensus recommendations regarding harmonization of patient/family education practices for newly diagnosed pediatric oncology patients across institutions. Five broad principles, with associated recommendations, were identified by the panel, including recognition that (1) in pediatric oncology, patient/family education is family-centered; (2) a diagnosis of childhood cancer is overwhelming and the family needs time to process the diagnosis and develop a plan for managing ongoing life demands before they can successfully learn to care for the child; (3) patient/family education should be an interprofessional endeavor with 3 key areas of focus: (a) diagnosis/treatment, (b) psychosocial coping, and (c) care of the child; (4) patient/family education should occur across the continuum of care; and (5) a supportive environment is necessary to optimize learning. Dissemination and implementation of these recommendations will set the stage for future studies that aim to develop evidence to inform best practices, and ultimately to establish the standard of care for effective patient/family education in pediatric oncology. PMID:27385664

Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders.

Science.gov (United States)

Mallett, Andrew J; McCarthy, Hugh J; Ho, Gladys; Holman, Katherine; Farnsworth, Elizabeth; Patel, Chirag; Fletcher, Jeffery T; Mallawaarachchi, Amali; Quinlan, Catherine; Bennetts, Bruce; Alexander, Stephen I

2017-12-01

Inherited kidney disease encompasses a broad range of disorders, with both multiple genes contributing to specific phenotypes and single gene defects having multiple clinical presentations. Advances in sequencing capacity may allow a genetic diagnosis for familial renal disease, by testing the increasing number of known causative genes. However, there has been limited translation of research findings of causative genes into clinical settings. Here, we report the results of a national accredited diagnostic genetic service for familial renal disease. An expert multidisciplinary team developed a targeted exomic sequencing approach with ten curated multigene panels (207 genes) and variant assessment individualized to the patient's phenotype. A genetic diagnosis (pathogenic genetic variant[s]) was identified in 58 of 135 families referred in two years. The genetic diagnosis rate was similar between families with a pediatric versus adult proband (46% vs 40%), although significant differences were found in certain panels such as atypical hemolytic uremic syndrome (88% vs 17%). High diagnostic rates were found for Alport syndrome (22 of 27) and tubular disorders (8 of 10), whereas the monogenic diagnostic rate for congenital anomalies of the kidney and urinary tract was one of 13. Quality reporting was aided by a strong clinical renal and genetic multidisciplinary committee review. Importantly, for a diagnostic service, few variants of uncertain significance were found with this targeted, phenotype-based approach. Thus, use of targeted massively parallel sequencing approaches in inherited kidney disease has a significant capacity to diagnose the underlying genetic disorder across most renal phenotypes. Copyright © 2017 International Society of Nephrology. Published by Elsevier Inc. All rights reserved.

Fragile X Syndrome in a Colombian Family

Directory of Open Access Journals (Sweden)

Saldarriaga Gil, Wilmar

2018-01-01

Full Text Available A study was performed on a family from Cali, Colombia in which nine patients were evaluated, three of which presented with intellectual disability with no previous etiological diagnosis. The proband was diagnosed with Fragile X syndrome by DNA molecular testing and, cascade testing, performed on all available family members, identifying two additional individuals with the full mutation and four carriers of a premutation allele. With this report we seek to contribute to Colombian epidemiology of the syndrome and emphasize the importance of diagnosis to provide a comprehensive and specific treatment to those affected. Further we seek to identify premutation carriers in their families or women with a full mutation without the classic phenotype for genetic counseling and education about potential associated pathologies.

Diagnosing differences between business process models

NARCIS (Netherlands)

Dijkman, R.M.; Dumas, M.; Reichert, M.; Shan, M.-C.

2008-01-01

This paper presents a technique to diagnose differences between business process models in the EPC notation. The diagnosis returns the exact position of a difference in the business process models and diagnoses the type of a difference, using a typology of differences developed in previous work.

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

2018-03-01

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. © 2017 John Wiley & Sons Ltd.

Effect of family-oriented interviews on family function of young ...

African Journals Online (AJOL)

The outcome of a young person's future is affected by the support received from the family. Support that is received is related to the quality of family functioning of the young person. Family-oriented interview assesses the family of a patient who presents for consultation, through the patient. It diagnoses relationship issues in ...

Family members of patients with abdominal aortic aneurysms are at increased risk for aneurysms: analysis of 618 probands and their families from the Liège AAA Family Study.

Science.gov (United States)

Sakalihasan, Natzi; Defraigne, Jean-Olivier; Kerstenne, Marie-Ange; Cheramy-Bien, Jean-Paul; Smelser, Diane T; Tromp, Gerard; Kuivaniemi, Helena

2014-05-01

The objectives were to answer the following questions with the help of a well-characterized population in Liège, Belgium: 1) what percentage of patients with abdominal aortic aneurysm (AAA) have a positive family history for AAA? 2) what is the prevalence of AAAs among relatives of patients with AAA? and 3) do familial and sporadic AAA cases differ in clinical characteristics? Patients with unrelated AAA diagnosed at the Cardiovascular Surgery Department, University Hospital of Liège, Belgium, between 1999 and 2012 were invited to the study. A detailed family history was obtained in interviews and recorded using Progeny software. We divided the 618 patients into 2 study groups: group I, 296 patients with AAA (268; 91% men) were followed up with computerized tomography combined with positron emission tomography; and group II, 322 patients with AAA (295; 92% men) whose families were invited to ultrasonographic screening. In the initial interview, 62 (10%) of the 618 patients with AAA reported a positive family history for AAA. Ultrasonographic screening identified 24 new AAAs among 186 relatives (≥50 years) of 144 families yielding a prevalence of 13%. The highest prevalence (25%) was found among brothers. By combining the number of AAAs found by ultrasonographic screening with those diagnosed previously the observed lifetime prevalence of AAA was estimated to be 32% in brothers. The familial AAA cases were more likely to have a ruptured AAA than the sporadic cases (8% vs. 2.4%; P AAA among brothers, support genetic contribution to AAA pathogenesis, and provide rationale for targeted screening of relatives of patients with AAA. Copyright © 2014 Elsevier Inc. All rights reserved.

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.

Validation of nursing management diagnoses.

Science.gov (United States)

Morrison, R S

1995-01-01

Nursing management diagnosis based on nursing and management science, merges "nursing diagnosis" and "organizational diagnosis". Nursing management diagnosis is a judgment about nursing organizational problems. The diagnoses provide a basis for nurse manager interventions to achieve outcomes for which a nurse manager is accountable. A nursing organizational problem is a discrepancy between what should be happening and what is actually happening that prevents the goals of nursing from being accomplished. The purpose of this study was to validate 73 nursing management diagnoses identified previously in 1992: 71 of the 72 diagnoses were considered valid by at least 70% of 136 participants. Diagnoses considered to have high priority for future research and development were identified by summing the mean scores for perceived frequency of occurrence and level of disruption. Further development of nursing management diagnoses and testing of their effectiveness in enhancing decision making is recommended.

Assessment of Compliance to Treatment of Diabetes and Hypertension amongst Previously Diagnosed Patients from Rural Community of Raigad District of Maharashtra.

Science.gov (United States)

Kakumani, Kiranmayi Venkata; Waingankar, Prasad

2016-12-01

Substantial burden of diabetes and hypertension is on rise in India, leading to a twin epidemic. India, being a rural country, has unique problems regarding the treatment compliance which is a serious risk for morbidity and mortality. To assess the compliance to treatment of hypertension and diabetes amongst the diagnosed patients from rural area and to study reasons of non-compliance and knowledge and attitude. Community based, cross sectional, observational study conducted in the rural communities of Tara and Barapada villages of Raigad district of Maharashtra. Survey was conducted covering population of 2115 across 360 families, 250 at Barapada and 110 at Tara. All the cases of diabetes and hypertension diagnosed for more than one year were included. A structured and pre-tested questionnaire was administered including details on demography, medical documentation, treatment details and factors assessing the compliance, knowledge and attitude towards the diseases. When reviewed the treatment adherence pattern based on documentary evidence and interview of the patient, on history of taking medication strictly since the detection illness, it was found that more than 70% of the Diabetics and more than 75% of the Hypertensive have discontinued the treatment in between. The most common reasons of non-compliance is the lack of sufficient motivation for treatment adherence as many mentioned (61.4% diabetics, 55.8% hypertensives) difficulty to remember to take daily medication due to work or forgetfulness. This is followed by lack of money (50%diabetics, 55.8% hypertensives) and living far away from doctor in city (43% diabetics and 46% hypertensives). The study findings are only tip of iceberg and the non-adherence to the treatment of diabetes and hypertension in rural population is at alarmingly high. Illiteracy, lack of faith in treatment and motivation, unawareness and self-neglect as well as financial constraints and lack of specialist care in rural area is playing

Common Diagnoses in the NICU

Science.gov (United States)

... breakdown of blood cells, and the liver usually "recycles" it back into the body). Although mild jaundice ... brain). However, PVL can happen without any previous history of bleeding. How is it diagnosed? Often no ...

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

2018-02-01

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.

Recurrent APC gene mutations in Polish FAP families

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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.

Familial short fifth metacarpals and insulin resistance

International Nuclear Information System (INIS)

Hyari, Muwafag; Hamamy, Hanan; Barham, Muries; Ajlouni, Kamel; Al-Hadidy, Azmy

2006-01-01

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.)

Anterior Cutaneous Nerve Entrapment Syndrome in a Pediatric Patient Previously Diagnosed With Functional Abdominal Pain: A Case Report.

Science.gov (United States)

DiGiusto, Matthew; Suleman, M-Irfan

2018-03-23

Chronic abdominal pain is common in children and adolescents but challenging to diagnose, because practitioners may be concerned about missing serious occult disease. Abdominal wall pain is an often ignored etiology for chronic abdominal pain. Anterior cutaneous nerve entrapment syndrome causes abdominal wall pain but is frequently overlooked. Correctly diagnosing patients with anterior cutaneous nerve entrapment syndrome is important because nerve block interventions are highly successful in the remittance of pain. Here, we present the case of a pediatric patient who received a diagnosis of functional abdominal pain but experienced pain remittance after receiving a trigger-point injection and transverse abdominis plane block.

Molecular analysis of clinical isolates previously diagnosed as Mycobacterium intracellulare reveals incidental findings of "Mycobacterium indicus pranii" genotypes in human lung infection.

Science.gov (United States)

Kim, Su-Young; Park, Hye Yun; Jeong, Byeong-Ho; Jeon, Kyeongman; Huh, Hee Jae; Ki, Chang-Seok; Lee, Nam Yong; Han, Seung-Jung; Shin, Sung Jae; Koh, Won-Jung

2015-09-30

Mycobacterium intracellulare is a major cause of Mycobacterium avium complex lung disease in many countries. Molecular studies have revealed several new Mycobacteria species that are closely related to M. intracellulare. The aim of this study was to re-identify and characterize clinical isolates from patients previously diagnosed with M. intracellulare lung disease at the molecular level. Mycobacterial isolates from 77 patients, initially diagnosed with M. intracellulare lung disease were re-analyzed by multi-locus sequencing and pattern of insertion sequences. Among the 77 isolates, 74 (96 %) isolates were designated as M. intracellulare based on multigene sequence-based analysis. Interestingly, the three remaining strains (4 %) were re-identified as "Mycobacterium indicus pranii" according to distinct molecular phylogenetic positions in rpoB and hsp65 sequence-based typing. In hsp65 sequevar analysis, code 13 was found in the majority of cases and three unreported codes were identified. In 16S-23S rRNA internal transcribed spacer (ITS) sequevar analysis, all isolates of both species were classified within the Min-A ITS sequevar. Interestingly, four of the M. intracellulare isolates harbored IS1311, a M. avium-specific element. Two of three patients infected with "M. indicus pranii" had persistent positive sputum cultures after antibiotic therapy, indicating the clinical relevance of this study. This analysis highlights the importance of precise identification of clinical isolates genetically close to Mycobacterium species, and suggests that greater attention should be paid to nontuberculous mycobacteria lung disease caused by "M. indicus pranii".

Local heat stress and skin blood flowmotion in subjects with familial predisposition or newly diagnosed hypertension.

Science.gov (United States)

Gryglewska, Barbara; Nęcki, Mirosław; Cwynar, Marcin; Baron, Tomasz; Grodzicki, Tomasz

2010-12-01

The aim of the study was to investigate the skin microcirculation blood flow and flowmotion response to heat stress in normotensive subjects with familial predisposition to hypertension and in hypertensive patients. Normotensives without [NT(-)] or with [NT(+)] familial predisposition and subjects with newly diagnosed hypertension (HT) were studied. Clinic blood pressure (BP) measurements and ambulatory BP monitoring as well as laboratory assessments were performed. Resting (RF), heat (HF) and maximal heat (MHF) blood flows were measured using PeriFlux laser Doppler flowmetry (LDF) and expressed as absolute units (AU) and as index of cutaneous vascular conductance (CVC). Spectral analysis of the skin LDF signal was performed by means of the Perisoft dedicated software. Kruskall-Wallis analysis of variance, χ(2) statistic and multivariate reverse regression analysis were used for calculation. The studied population consisted of 70 persons (mean age 36.1 ± 10.3 years, 44.3% women): 17 NT(-), 22 NT(+) and 31 HT, age and gender matched. Higher values of body mass index (BMI), and insulin, glucose and triglyceride levels were observed in HT than in NT groups. RF, HF and MHF were similar in all study groups, but CVC of maximal heat flow differed (p=0.02); in particular, lower values were observed in the HT than in NT(-) group (p=0.01). The study groups differed with regard to total power (p=0.01) and myogenic (p=0.03) origin flowmotion with the lowest values in the NT(+) group. BMI and night BP characteristics were strong predictors of reduction of CVC, MHF and myogenic origin flowmotion. Skin microcirculation response to local heat stress is altered in hypertensive patients with decrease in maximal heat CVC values. Moreover, normotensive subjects with familial predisposition to hypertension are characterized by diminished myogenic origin of skin blood flowmotion.

Choice of contraception after previous operative delivery at a family ...

African Journals Online (AJOL)

Materials and Methods: A retrospective study was conducted at the Barau Dikko Teaching Hospital from 1st January, 2000 .... tertiary healthcare centers, they can access family planning ... those of higher parity may have opted for sterilization.

Febrile urticaria in a family: uncommon manifestation of a common disease.

Science.gov (United States)

Sharma, Vishal; Singhal, Mayank; Sharma, Alka; Kumar, Vivek

2012-12-15

Cutaneous manifestations are uncommon with malaria. These include urticaria, purpura fulminans, and petechial rash. We report on a series of three patients from a single family who had an urticarial rash with fever that was subsequently diagnosed to be caused by malaria. Urticarial rash has been previously reported with both falciparum and vivax malaria infections. Although the exact pathogenesis is not clear urticarial rash might be related with IgE mediated mast cell degranulation.

The high price of depression: Family members' health conditions and health care costs.

Science.gov (United States)

Ray, G Thomas; Weisner, Constance M; Taillac, Cosette J; Campbell, Cynthia I

2017-05-01

To compare the health conditions and health care costs of family members of patients diagnosed with a Major Depressive Disorder (MDD) to family members of patients without an MDD diagnosis. Using electronic health record data, we identified family members (n=201,914) of adult index patients (n=92,399) diagnosed with MDD between 2009 and 2014 and family members (n=187,011) of matched patients without MDD. Diagnoses, health care utilization and costs were extracted for each family member. Logistic regression and multivariate models were used to compare diagnosed health conditions, health services cost, and utilization of MDD and non-MDD family members. Analyses covered the 5years before and after the index patient's MDD diagnosis. MDD family members were more likely than non-MDD family members to be diagnosed with mood disorders, anxiety, substance use disorder, and numerous other conditions. MDD family members had higher health care costs than non-MDD family members in every period analyzed, with the highest difference being in the year before the index patient's MDD diagnosis. Family members of patients with MDD are more likely to have a number of health conditions compared to non-MDD family members, and to have higher health care cost and utilization. Copyright © 2017. Published by Elsevier Inc.

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. Copyright © 2013 UICC.

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

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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.

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

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Sherif Ali Eltawansy

2015-01-01

Full Text Available 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.

Fragile X syndrome – a common disease rarely diagnosed

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Lisik Malgorzata Zofia

2017-03-01

Full Text Available Fragile X syndrome (FXS is a single-gene disorder with a broad spectrum of involvement, including cognitive and behavioural impairments of varying degrees with specific physical features and with strong association with autism. The study was conducted on 23 males (10-32 years old who had full mutation in the FMR1 gene. A complete medical evaluation, including medical history, family history, psychological testing and physical examination was conducted on each subject. Three of the FXS patients (13% were isolated cases of mental retardation in the family. The remaining 20 FXS patients belonged to 15 families, where there were other mentally retarded family members present. The degree of mental retardation (MR varied. Mild MR was diagnosed in 1/23 (4.35%, moderate MR in 12/23 (52.17%, severe MR in 10/23 (43.48 %. Moreover, autism spectrum disorder was diagnosed in 5/23 (21.74% FXS patients. Analysis of the BMI showed that in FXS patients, 14 of 23 (60.68% had too high body weight - 9/23 (39.13% were overweight and 5/23 (21.74% were obese. The diagnosis of FXS is difficult because of nonspecific symptoms, yet early diagnosis is crucial for early intervention and genetic counseling. The risk of recurrence is 50%.

Psychosocial and Clinical Factors Associated with Family Communication of Cancer Genetic Test Results among Women Diagnosed with Breast Cancer at a Young Age.

Science.gov (United States)

Elrick, Ashley; Ashida, Sato; Ivanovich, Jennifer; Lyons, Sarah; Biesecker, Barbara B; Goodman, Melody S; Kaphingst, Kimberly A

2017-02-01

Genetic test results have medical implications beyond the patient that extend to biological family members. We examined psychosocial and clinical factors associated with communication of genetic test results within families. Women (N = 1080) diagnosed with breast cancer at age 40 or younger completed an online survey; 920 women that reported prior cancer genetic testing were included in analysis. We examined the proportion of immediate family members to whom they communicated genetic test results, and built multivariable regression models to examine clinical and psychosocial variables associated with the proportion score. Participants were most likely to communicate test results to their mother (83 %) and least likely to their son (45 %). Participants who carried a BRCA mutation (OR = 1.34; 95 % CI = 1.06, 1.70), had higher interest in genomic information (OR = 1.55; 95 % CI = 1.26, 1.91) and lower genetic worry (OR = 0.91; 95 % CI = 0.86, 0.96) communicated genetic test results to a greater proportion of their immediate family members. Participants with a BRCA1/2 mutation shared their genetic test results with more male family members (OR = 1.72; 95 % CI = 1.02, 2.89). Our findings suggest that patients with high worry about genetic risks, low interest in genomic information, or receive a negative genetic test result will likely need additional support to encourage family communication.

Progranulin mutation causes frontotemporal dementia in the Swedish Karolinska family.

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Chiang, Huei-Hsin; Rosvall, Lina; Brohede, Jesper; Axelman, Karin; Björk, Behnosh F; Nennesmo, Inger; Robins, Tiina; Graff, Caroline

2008-11-01

Frontotemporal dementia (FTD) is a neurodegenerative disease characterized by cognitive impairment, language dysfunction, and/or changes in personality. Recently it has been shown that progranulin (GRN) mutations can cause FTD as well as other neurodegenerative phenotypes. DNA from 30 family members, of whom seven were diagnosed with FTD, in the Karolinska family was available for GRN sequencing. Fibroblast cell mRNA from one affected family member and six control individuals was available for relative quantitative real-time polymerase chain reaction to investigate the effect of the mutation. Furthermore, the cDNA of an affected individual was sequenced. Clinical and neuropathologic findings of a previously undescribed family branch are presented. A frameshift mutation in GRN (g.102delC) was detected in all affected family members and absent in four unaffected family members older than 70 years. Real-time polymerase chain reaction data showed an approximately 50% reduction of GRN fibroblast mRNA in an affected individual. The mutated mRNA transcripts were undetectable by cDNA sequencing. Segregation and RNA analyses showed that the g.102delC mutation, previously reported, causes FTD in the Karolinska family. Our findings add further support to the significance of GRN in FTD etiology and the presence of modifying genes, which emphasize the need for further studies into the mechanisms of clinical heterogeneity. However, the results already call for attention to the complexity of predictive genetic testing of GRN mutations.

Mental and physical health correlates among family caregivers of patients with newly-diagnosed incurable cancer: a hierarchical linear regression analysis.

Science.gov (United States)

Shaffer, Kelly M; Jacobs, Jamie M; Nipp, Ryan D; Carr, Alaina; Jackson, Vicki A; Park, Elyse R; Pirl, William F; El-Jawahri, Areej; Gallagher, Emily R; Greer, Joseph A; Temel, Jennifer S

2017-03-01

Caregiver, relational, and patient factors have been associated with the health of family members and friends providing care to patients with early-stage cancer. Little research has examined whether findings extend to family caregivers of patients with incurable cancer, who experience unique and substantial caregiving burdens. We examined correlates of mental and physical health among caregivers of patients with newly-diagnosed incurable lung or non-colorectal gastrointestinal cancer. At baseline for a trial of early palliative care, caregivers of participating patients (N = 275) reported their mental and physical health (Medical Outcome Survey-Short Form-36); patients reported their quality of life (Functional Assessment of Cancer Therapy-General). Analyses used hierarchical linear regression with two-tailed significance tests. Caregivers' mental health was worse than the U.S. national population (M = 44.31, p caregiver, relational, and patient factors simultaneously revealed that younger (B = 0.31, p = .001), spousal caregivers (B = -8.70, p = .003), who cared for patients reporting low emotional well-being (B = 0.51, p = .01) reported worse mental health; older (B = -0.17, p = .01) caregivers with low educational attainment (B = 4.36, p family caregivers of patients with incurable cancer, caregiver demographics, relational factors, and patient-specific factors were all related to caregiver mental health, while caregiver demographics were primarily associated with caregiver physical health. These findings help identify characteristics of family caregivers at highest risk of poor mental and physical health who may benefit from greater supportive care.

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.

Cryptococcal meningitis in a previously healthy child | Chimowa ...

African Journals Online (AJOL)

An 8-year-old previously healthy female presented with a 3 weeks history of headache, neck stiffness, deafness, fever and vomiting and was diagnosed with cryptococcal meningitis. She had documented hearing loss and was referred to tertiary-level care after treatment with fluconazole did not improve her neurological ...

Support for Teens When a Family Member has Cancer

Science.gov (United States)

When a parent, brother, or sister has been diagnosed with cancer, family members need extra support. Information to help teens learn how to cope, talk with family members, manage stress, and get support from counselors when a loved one has been diagnosed with, or is being treated for, cancer.

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

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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.

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

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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

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...... of the affected kidney was proposed. However, the strategy of treatment after prenatally diagnosed hydronephrosis is still controversial. We studied 28 consecutive children with suspected unilateral pelviureteral junction obstruction and a normal contralateral kidney. The overall follow-up period varied between 2...

Family Process - Autism Spectrum Disorders

OpenAIRE

Benson, Mark

2012-01-01

Slides for a talk about family process and the importance of parenting dimensions in adolescent development. The slides list findings to date, and propose research into the influence of family on outcomes for those diagnosed with an autism spectrum disorder.

Multiple Levels of Family Factors and Oppositional Defiant Disorder Symptoms Among Chinese Children.

Science.gov (United States)

Lin, Xiuyun; Li, Longfeng; Heath, Melissa A; Chi, Peilian; Xu, Shousen; Fang, Xiaoyi

2018-03-01

Family factors are closely associated with child developmental outcomes. This study examined the relationship of oppositional defiant disorder (ODD) symptoms and factors at whole family, dyadic, and individual levels in Chinese children. Participants, who were recruited from 14 primary schools in north, east, and south-west China, included 80 father-child dyads and 169 mother-child dyads. Children in the participating dyads were previously diagnosed with ODD. Results revealed that family cohesion/adaptability was indirectly associated with ODD symptoms via parent-child relationship and child emotion regulation. Parent-child relationship affected ODD symptoms directly and indirectly through child emotion regulation. In addition, the effects of family cohesion/adaptability on parent emotion regulation and child emotion regulation were mediated by the parent-child relationship. The tested model provides a comprehensive framework of how family factors at multiple levels are related to child ODD symptoms and highlights the importance of understanding child emotional and behavioral problems within the family context, more specifically within the multiple levels of family relationships. © 2016 Family Process Institute.

Familial Risks of Kidney Failure in Sweden: A Nationwide Family Study

OpenAIRE

Akrawi, Delshad Saleh; Li, Xinjun; Sundquist, Jan; Sundquist, Kristina; Zöller, Bengt

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...

Costs and Benefits of Diagnosing Familial Breast Cancer

Directory of Open Access Journals (Sweden)

Ketil Heimdal

1999-01-01

Full Text Available Based on results from our surveillance program for women at risk for inherited breast cancer, we have calculated cost per year earned. Norwegian National Insurance Service reimbursement fees were used in the calculations. The calculated costs are based on empirical figures for expanding already established medical genetic departments and diagnostic outpatient clinics to undertake the work described. Cost per year earned was estimated at Euro 753 using our current practice of identifying the high-risk women through a traditional cancer family clinic.

Hereditary & familial colorectal cancer : Identification, characteristics, surveillance

NARCIS (Netherlands)

Kallenberg, F.G.J.

2017-01-01

Of all colorectal cancer (CRC) cases, 15-20% is related to familial or hereditary factors. Diagnosing familial and hereditary CRC syndromes is important for several reasons. One of these is that surveillance colonoscopies can reduce CRC incidence and mortality importantly. A complete family history

Persistent smoking as a predictor of disability pension due to musculoskeletal diagnoses: a 23 year prospective study of Finnish twins.

Science.gov (United States)

Ropponen, Annina; Korhonen, Tellervo; Svedberg, Pia; Koskenvuo, Markku; Silventoinen, Karri; Kaprio, Jaakko

2013-12-01

To investigate whether stability or changes in smoking predict disability pension (DP) due to low back diagnoses (LBD) and musculoskeletal diagnoses (MSD) after taking familial confounding into account using a co-twin design. Longitudinal smoking patterns and multiple covariates in a population-based cohort of 17,451 Finnish twins (6959 complete pairs) born before 1958 were surveyed through questionnaires in 1975 and 1981. The outcome data were collected from the national pension registers until the end of 2004. Cox proportional hazards regression models were used for statistical analyses. Disability pension due to low back diagnoses was granted to 408 individuals and disability pension due to musculoskeletal diagnoses to 1177 individuals during the follow-up of 23 years. Being a persistent smoker (current smoker both 1975 and 1981) predicted a significantly increased risk for disability pension (hazard ratio 1.69, 95% confidence interval 1.46, 1.97) compared to those individuals who had never smoked. The association remained when several confounding factors, including familial factors, were taken into account. Persistent smoking predicts early disability pension due to musculoskeletal diagnoses and low back diagnoses independently from numerous confounding factors, including familial effects shared by the co-twins. © 2013.

Korean sibling caregivers of individuals diagnosed with schizophrenia

Directory of Open Access Journals (Sweden)

Mijung Park

2017-12-01

Full Text Available Siblings of individuals diagnosed with schizophrenia are an important source of family caregiving. Unfortunately, limited information is available about sibling caregivers because existing studies have focused on other family relationships such as parents, spouses, and children. To fill the knowledge gap, the purpose of this study is to describe Korean sibling caregivers’ experience with individuals diagnosed with schizophrenia. Guided by Colaizzi’s descriptive phenomenological methodology, we conducted in-depth, semi-structured, face-to-face interviews with eight individuals who have a sibling (1 diagnosed with schizophrenia and (2 hospitalized in an inpatient psychiatric unit. We discerned six key themes: sorrow, burnout, shame, different perspectives in life, acceptance, and responsibility. We categorized these themes into three groups: suffering, hope, and responsibility and obligation. Sibling caregivers of individuals with schizophrenia experience a mixture of several emotions. Participants loved their brother or sister with schizophrenia, but at the same time they felt shame and fear. While they were burdened by the responsibilities of caregiving, they remained loyal to their sibling with schizophrenia, continuing to help their siblings reach their full potential. Although participants were confused about the symptoms of schizophrenia, they were committed to learning more about the illness. Because we conducted the current study in Korea, the findings of this study may be unique to Korea culture. Further studies are needed to compare and contrast nuanced differences in sibling caregivers’ experience among different cultural groups.

Diagnosis of Child Maltreatment: A Family Medicine Physician's Dilemma.

Science.gov (United States)

Eniola, Kehinde; Evarts, Lori

2017-05-01

Cases of child maltreatment (CM) in the United States remain high, and primary care providers lack the confidence and training to diagnose these cases. This study provides recommendations to improve family medicine physicians' confidence in diagnosing CM. We e-mailed an electronic survey to family medicine residents and physicians practicing in the United States. Responses were collected during August and September 2015. Respondents were asked about their familiarity and competence level regarding the diagnosis of CM. They also were asked about the frequency of their correctly diagnosing CM, timeliness of diagnosis, barriers to a diagnosis or early diagnosis of CM, and receipt of adequate CM training. Of the 420 surveys emailed, 258 (61%) were completed. The majority of respondents stated their self-reported level of competence in diagnosing CM as average or below average, with few (8%) indicating a competence level of above average. A timely diagnosis of child maltreatment was reported by 46% of respondents, whereas 54% were either late (19.2%) in diagnosing or could not recall (34.6%). The barriers to diagnosis cited by responders were inexperience (58%), lack of confidence and certainty (50%), lack of diagnosis protocol (43.3%), lack of confidence in communicating with parents (38.3%), and inadequate training (34.9%). The introduction of CM training into the family medicine residency training curriculum, coupled with the development of a standardized CM diagnosis protocol, may improve self-reported family medicine physicians' confidence and competence levels in diagnosing CM.

Gestational Diabetes in Korea: Incidence and Risk Factors of Diabetes in Women with Previous Gestational Diabetes

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Hak Chul Jang

2011-02-01

Full Text Available Korean women with a history of gestational diabetes mellitus (GDM have a 3.5 times greater risk of developing postpartum diabetes than the general population. The incidence of type 2 diabetes mellitus in early postpartum is reported as 10-15% in Korean women. A prospective follow-up study on Korean women with GDM showed that approximately 40% of women with previous GDM were expected to develop diabetes within 5 years postpartum. Independent risk factors for the development of diabetes in Korean women with previous GDM are pre-pregnancy body weight, gestational age at diagnosis, antepartum hyperglycemia on oral glucose tolerance test, low insulin response to oral glucose load, and family history of diabetes. Women with postpartum diabetes have greater body mass indexes, body weight, and waist circumferences than women with normal glucose tolerance. Multiple logistic regression analysis has revealed that waist circumference is the strongest obesity index along with systolic blood pressure and that triglyceride levels are a major independent risk factor for developing diabetes. These results in Korean women with previous GDM underline the importance of postpartum testing in Korean women diagnosed with GDM, and demonstrate that impaired B-cell function, obesity, and especially visceral obesity, are associated with the development of diabetes.

Combined Occurrence of Autosomal Dominant Aniridia and Autosomal Recessive Albinism in Several Members of a Family.

Science.gov (United States)

Yahalom, Claudia; Sharon, Dror; Dalia, Eli; Simhon, Shiran Ben; Shemesh, Efrat; Blumenfeld, Anat

2015-06-01

To characterize clinical and genetic aspects of a family with a unique combination of two hereditary blinding eye diseases. Comprehensive eye examination of proband and family members. Molecular analyses of the TYR and PAX6 genes. A young couple, both legally blind, requested genetic counselling regarding their ocular condition. The female was previously diagnosed with oculocutaneous albinism (OCA1A) and her spouse was diagnosed with Peters anomaly. A comprehensive clinical examination revealed that the female had OCA1A combined with signs of another ocular disease, showing some similarity to aniridia. A complete ocular examination of her family members revealed that her brother also suffered from the same combined phenotype, her father had typical OCA1A signs, and her mother and sister had aniridia-like phenotype, without clinical diagnosis until the time of presentation. Molecular analysis identified two compound heterozygous TYR mutations known to cause OCAIA and cosegregate with oculocutaneous albinism. In addition, we identified a novel heterozygous PAX6 mutation confirming the atypical aniridia phenotype. We report here a unique and rare clinical phenotype that is explained by the segregation of two severe inherited eye diseases. The clinical and genetic analysis in this family allowed them to receive accurate genetic counseling.

Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders

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Shanshan Xu

2017-10-01

Full Text Available Abstract Background Noonan syndrome (NS and Noonan syndrome with multiple lentigines (NSML are autosomal dominant developmental disorders. NS and NSML are caused by abnormalities in genes that encode proteins related to the RAS-MAPK pathway, including PTPN11, RAF1, BRAF, and MAP2K. In this study, we diagnosed ten NS or NSML patients via targeted sequencing or whole exome sequencing (TS/WES. Methods TS/WES was performed to identify mutations in ten Chinese patients who exhibited the following manifestations: potential facial dysmorphisms, short stature, congenital heart defects, and developmental delay. Sanger sequencing was used to confirm the suspected pathological variants in the patients and their family members. Results TS/WES revealed three mutations in the PTPN11 gene, three mutations in RAF1 gene, and four mutations in BRAF gene in the NS and NSML patients who were previously diagnosed based on the abovementioned clinical features. All the identified mutations were determined to be de novo mutations. However, two patients who carried the same mutation in the RAF1 gene presented different clinical features. One patient with multiple lentigines was diagnosed with NSML, while the other patient without lentigines was diagnosed with NS. In addition, a patient who carried a hotspot mutation in the BRAF gene was diagnosed with NS instead of cardiofaciocutaneous syndrome (CFCS. Conclusions TS/WES has emerged as a useful tool for definitive diagnosis and accurate genetic counseling of atypical cases. In this study, we analyzed ten Chinese patients diagnosed with NS and related disorders and identified their correspondingPTPN11, RAF1, and BRAF mutations. Among the target genes, BRAF showed the same degree of correlation with NS incidence as that of PTPN11 or RAF1.

Familial hypercholesterolaemia in children and adolescents

DEFF Research Database (Denmark)

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

2015-01-01

. If a parent has a genetic defect, the LDL-C cut-off for the child is ≥3.5 mmol/L (130 mg/dL). We recommend cascade screening of families using a combined phenotypic and genotypic strategy. In children, testing is recommended from age 5 years, or earlier if homozygous FH is suspected. A healthy lifestyle......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...... of the need for early detection and management of FH children. Familial hypercholesterolaemia is diagnosed either on phenotypic criteria, i.e. an elevated low-density lipoprotein cholesterol (LDL-C) level plus a family history of elevated LDL-C, premature coronary artery disease and/or genetic diagnosis...

Living with children diagnosed with Autism Spectrum Disorder: Parental and professional views

OpenAIRE

Dillenburger, Karola; Keenan, Mickey; Dogherty, Alvyn; Byrne, Tony; Gallagher, Stephen

2010-01-01

The number of children diagnosed with an autistic spectrum disorder (ASD) is rising and is now thought to be as high as 1:100. While the debate about best treatment continues, the effects of having a child diagnosed with ASD on family life remain relatively unexplored. This article, by Karola Dillenburger of Queens University Belfast, Mickey Keenan of the University of Ulster, Alvin Doherty from the Health Service Executive Western Region, Tony Byrne of Parents’ Education as Autism Therapists...

Multiple familial trichoepithelioma: a rare cutaneous tumour

International Nuclear Information System (INIS)

Arfan-ul-Bari; Simeen-ber-Rehman

2004-01-01

Multiple familial trichoepithelioma (MFT) is a rare autosomal dominant skin disease that presents as many small tumours predominantly on the face. We report a case of multiple familial trichoepithelioma occurring in three members of a family. They were diagnosed simultaneously. Only one was treated with medium depth chemical peeling with partial response. (author)

Diagnosing autism: Contemporaneous surveys of parent needs and paediatric practice.

Science.gov (United States)

Hennel, Sabine; Coates, Cathy; Symeonides, Christos; Gulenc, Alisha; Smith, Libby; Price, Anna Mh; Hiscock, Harriet

2016-05-01

Concurrence between parents' information needs and clinicians' practice when diagnosing autism is unknown but may influence families' uptake of management and adjustment. We aimed to compare parents' experience and preferences with paediatrician report of (i) diagnosis delivery and (ii) information given at diagnosis and identify types and usefulness of resources accessed by families post-diagnosis. The design used for the study are parent and paediatrician surveys. Participants are parents of children aged 1.5-18 years, diagnosed with autism between 01 January 2010 and 30 September 2012 and their paediatricians who are members of the Australian Paediatric Research Network. Study-designed quantitative and qualitative questions about diagnosis delivery and information given at diagnosis (written and spoken vs. neither) and parent perceived importance and harms of information accessed post-diagnosis. Paediatricians (53/198 (27%)) identified 1127 eligible families, of whom 404 (36%) participated. Parents were more likely to report receiving adequate time to discuss diagnosis than paediatricians (71 vs. 51%). Parents (98%) rated information about accessing allied health professionals and the meaning of diagnosis as most important, yet paediatricians offered written or spoken information about each infrequently (allied health: 22%; diagnosis: 42%). Post-diagnosis, allied health was the most important source of information (83%). Harmful resources conveyed helplessness or non-evidenced-based therapies, but few parents (14%) reported this. Parents want more information than can be conveyed in a single diagnostic consultation. Developing a tailored 'autism action plan' with written materials could improve parents' understanding of and satisfaction with children's autism diagnoses. © 2016 Paediatrics and Child Health Division (The Royal Australasian College of Physicians).

[How do mentally ill parents evaluate their children's quality of life? Associations with the parent's illness and family functioning].

Science.gov (United States)

Pollak, Eva; Bullinger, Monika; Jeske, Jana; Wiegand-Grefe, Silke

2008-01-01

To assess health-related quality of life (hrQoL) of children with a mentally ill parent, and its associations with the parent's illness (diagnoses, severity of disease, current symptoms) and family functioning, 51 mentally ill parents rated their children's hrQoL using the KINDL-R, a multidimensional hrQoL questionnaire for children. Parents rated their current psychiatric symptoms on the SCL-14 (Symptom Checklist-14) and family functioning on the FB-A ("Familienbögen"). The parents' therapists (psychologists or psychiatrists) provided psychiatric diagnoses as well as global ratings of disease severity (CGI) and patient's family functioning. Compared to the general population, parents rated their children's hrQoL significantly lower concerning the dimensions "Psychological Well-Being" and "Family': HrQoL ratings were moderately correlated with the parent's current depressive symptoms and moderately to highly correlated with family functioning from the parent's perspective. Lower depression severity and higher family functioning were associated with higher hrQoL ratings. Parents with affective disorders rated their children's hrQoL significantly lower than did parents with a diagnosis of substance abuse. Results show the importance of family functioning for parents' view of children's hrQoL and the influence of psychiatric symptoms on ill parents' reports. These findings are in line with previous results concerning potential psychological and behavioural problems in children of mentally ill parents. Family interventions and multi-informant assessment should be used in this high-risk group.

[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.

Association of a Family History of Atrial Fibrillation With Incidence and Outcomes of Atrial Fibrillation: A Population-Based Family Cohort Study.

Science.gov (United States)

Chang, Shang-Hung; Kuo, Chang-Fu; Chou, I-Jun; See, Lai-Chu; Yu, Kuang-Hui; Luo, Shue-Fen; Huang, Lu-Hsiang; Zhang, Weiya; Doherty, Michael; Wen, Ming-Shien; Kuo, Chi-Tai; Yeh, Yung-Hsin

2017-08-01

The heritability of atrial fibrillation (AF), the contribution of genetic and environmental factors, and the association of a family history of AF with prognosis are unclear. To measure genetic and environmental factors in the familial aggregation of AF and to estimate the association of a family history of AF with major adverse cardiovascular events (MACE). In this Taiwanese nationwide population-based study among more than 23 million people, a custom data set was obtained using the data of all patients having a diagnosis of AF recorded between January 1996 and December 2013 in the Taiwan National Health Insurance Research Database. The study population comprised all 23 422 955 individuals registered with the database in 2013, of whom 177 770 had a diagnosis of AF and were included in the heritability estimation. From the latter, a subgroup of patients having newly diagnosed AF with a first-degree relative affected by AF between 2000 and 2010 were selected and matched 1:4 to controls without a family history for estimating MACE-free survival. The dates of analysis were January 2010 to December 2013. The prevalence and relative risk of AF in relatives of patients with AF, as well as the relative contributions of heritability and shared and nonshared environmental factors to AF susceptibility. Also measured was MACE-free survival after AF was diagnosed. In total, 1510 patients (204 [13.5%] female; mean [SD] age, 57.9 [9.2] years) had newly diagnosed AF with a first-degree relative affected by AF. Individuals with a first-degree relative affected by AF had a relative risk of 1.92 (95% CI, 1.84-1.99) for AF. The accountability for the phenotypic variance of AF was 19.9% for genetic factors (heritability), 3.5% for shared environmental factors, and 76.6% for nonshared environmental factors. After matching for age, sex, hypertension, type 2 diabetes, previous stroke, and anticoagulation, incident AF patients with vs without an affected first-degree relative had

Recent developments in family psychoeducation as an evidence-based practice.

Science.gov (United States)

Lucksted, Alicia; McFarlane, William; Downing, Donna; Dixon, Lisa

2012-01-01

Among potential resources for people with serious mental illnesses (SMI) and their families, professionally delivered family psychoeducation (FPE) is designed to engage, inform, and educate family members, so that they can assist the person with SMI in managing their illness. In this article, we review research regarding FPE outcomes and implementation since 2001, updating the previous review in this journal (McFarlane, Dixon, Lukens, & Lucksted, Journal of Marital and Family Therapy 2003; 29, 223). Research on a range of FPE variations continues to return mostly positive effects for adults with schizophrenia and increasingly, bipolar disorder. More recent studies include functional outcomes as well as the more common relapse and hospitalization. FPE research involving adults with other diagnoses is increasing, as is FPE research outside the United States In both cases, uneven methodologies and multiple FPE variations make drawing conclusions difficult, although the core utility of access to information, skill building, problem solving, and social support often shines though. Since the previous review, several FPE programs for parents of children or youth with mood disorders have also been developed, with limited research showing more positive than null results. Similarly, we review the developing inquiry into early intervention and FPE, short-form FPE, and cost studies involving FPE. The second half of the article updates the paradox of FPE's evidence base versus its persistently low use, via recent implementation efforts. Multiple challenges and facilitating factors across healthcare systems and financing, individual programs and providers, family members, and consumers shape this issue, and we conclude with discussion of the need for empirical evaluation of implementation strategies and models. © 2011 American Association for Marriage and Family Therapy.

Superior Canal Dehiscence Syndrome Affecting 3 Families.

Science.gov (United States)

Heidenreich, Katherine D; Kileny, Paul R; Ahmed, Sameer; El-Kashlan, Hussam K; Melendez, Tori L; Basura, Gregory J; Lesperance, Marci M

2017-07-01

Superior canal dehiscence syndrome (SCDS) is an increasingly recognized cause of hearing loss and vestibular symptoms, but the etiology of this condition remains unknown. To describe 7 cases of SCDS across 3 families. This retrospective case series included 7 patients from 3 different families treated at a neurotology clinic at a tertiary academic medical center from 2010 to 2014. Patients were referred by other otolaryngologists or were self-referred. Each patient demonstrated unilateral or bilateral SCDS or near dehiscence. Clinical evaluation involved body mass index calculation, audiometry, cervical vestibular evoked myogenic potential testing, electrocochleography, and multiplanar computed tomographic (CT) scan of the temporal bones. Zygosity testing was performed on twin siblings. The diagnosis of SCDS was made if bone was absent over the superior semicircular canal on 2 consecutive CT images, in addition to 1 physiologic sign consistent with labyrinthine dehiscence. Near dehiscence was defined as absent bone on only 1 CT image but with symptoms and at least 1 physiologic sign of labyrinthine dehiscence. A total of 7 patients (5 female and 2 male; age range, 8-49 years) from 3 families underwent evaluation. Family A consisted of 3 adult first-degree relatives, of whom 2 were diagnosed with SCDS and 1 with near dehiscence. Family B included a mother and her child, both of whom were diagnosed with unilateral SCDS. Family C consisted of adult monozygotic twins, each of whom was diagnosed with unilateral SCDS. For all cases, dehiscence was located at the arcuate eminence. Obesity alone did not explain the occurrence of SCDS because 5 of the 7 cases had a body mass index (calculated as weight in kilograms divided by height in meters squared) less than 30.0. Superior canal dehiscence syndrome is a rare, often unrecognized condition. This report of 3 multiplex families with SCDS provides evidence in support of a potential genetic contribution to the etiology

Familiære abdominale aortaaneurismer

DEFF Research Database (Denmark)

Mejnert Jørgensen, Trine; Lindholt, Jes S.; Høgh, Annette Langager

Formål og baggrund: Det er velkendt, at risikoen for at udvikle et abdominalt aortaaneurisme (AAA) er væsentligt forøget blandt førstegradsslægtninge til AAA-patienter, men tidligere studier er få og svært sammenlignelige, ligesom man ikke har kunnet belyse, om familiære tilfælde af AAA fremtræder...... mere aggressivt end ikke-familiære. Man ved således meget lidt om væksthastighed, prognose for ruptur, alder ved diagnose og operation og risiko for AAA-relaterede dødsfald for denne gruppe. Projektet vil forsøge at besvare følgende: Hvor stor er forekomsten af AAA blandt førstegradsslægtninge til AAA......-patienter på landsplan og er familiære tilfælde af AAA mere aggressive i form af lavere gennemsnitsalder ved diagnose og operation, hurtigere vækstrate, større rupturrisiko og højere forekomst af AAA-relaterede dødsfald end ikke-familiære AAA? Design: Projektet er et retrospektivt case-kontrolstudie, hvor man...

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...... asymmetrical, and had similar late gadolinium enhancement patterns. Ischemic stroke and severe white matter lesions were more frequent among family A men, but neither family A nor family B men had overt renal disease. Family A and family B heterozygotes had less severe or no clinical manifestations...

Depression in the Family of Patients With Dementia in Korea.

Science.gov (United States)

Jang, Sung-In; Bae, Hong-Chul; Shin, Jaeyong; Jang, Suk-Yong; Hong, Seri; Han, Kyu-Tae; Park, Eun-Cheol

2016-09-01

Dementia is the leading cause of disability worldwide in the elderly individuals. Although prior studies have examined psychiatric symptoms in dementia caregivers, few studies have examined physician-diagnosed depression in the family caregiver of a patient with dementia. We used data from 457 864 respondents from the Korea Community Health Survey. We used logistic regression to examine the relationship between physician-diagnosed depression and cohabitation with a patient with dementia. Cohabitation with a patient with dementia (1.2% of the Korean population) was significantly associated with physician-diagnosed depression. The significance remained in females when the data were stratified by sex. A significant association also occurred among males with low family income. To reduce the burden of dementia, we need a management policy that includes the caregiver as well as the patient with dementia. In particular, political management for the vulnerable population, male caregiver in low-income family and female caregiver in high-income family, should be prepared. © The Author(s) 2016.

Exploration of the family's role and strengths after a young woman is diagnosed with breast cancer: views of women and their families.

Science.gov (United States)

Coyne, Elisabeth; Wollin, Judy; Creedy, Debra K

2012-04-01

This exploratory descriptive study examined the role and strengths of the family when supporting the younger woman (<50 years) after a diagnosis of breast cancer. The perspectives of women and family members were sought. Participants were recruited from oncology outpatient units in Australia. Semi-structured interviews guided by the Family Resiliency Framework were undertaken with 14 young women with breast cancer and 11 family members who reflected on the roles of family. Transcripts were analysed individually and in family groupings. Women with breast cancer and their family members experienced a range of emotions during the treatment period. Roles within the family changed as members responded to their circumstances. Analysis of interview transcripts identified the following primary themes; 'just being there', 'paradox of help' and 'buffer from society'. A secondary theme related to support, specifically 'the changing role of support for family members', highlighting the strengths and experiences of family. Recognition needs to be given to the complexity of changing roles experienced by young women with breast cancer and their families. Young women with breast cancer require unique forms of support because of the nature of their experience. Family roles were shaped through a shared sense of commitment and open communication amongst members. Families may demonstrate a range of strengths but are also vulnerable during this stressful period. Health professionals need to be aware of the possible needs of families, assess their adaptation to changing circumstances, and intervene through the provision of information, and counselling to enhance coping. Copyright © 2011 Elsevier Ltd. All rights reserved.

Moderated Online Social Therapy: A Model for Reducing Stress in Carers of Young People Diagnosed with Mental Health Disorders.

Science.gov (United States)

Gleeson, John; Lederman, Reeva; Koval, Peter; Wadley, Greg; Bendall, Sarah; Cotton, Sue; Herrman, Helen; Crisp, Kingsley; Alvarez-Jimenez, Mario

2017-01-01

Family members caring for a young person diagnosed with the onset of mental health problems face heightened stress, depression, and social isolation. Despite evidence for the effectiveness of family based interventions, sustaining access to specialist family interventions is a major challenge. The availability of the Internet provides possibilities to expand and sustain access to evidence-based psychoeducation and personal support for family members. In this paper we describe the therapeutic model and the components of our purpose-built moderated online social therapy (MOST) program for families. We outline the background to its development, beginning with our face-to-face EPISODE II family intervention, which informed our selection of therapeutic content, and the integration of recent developments in positive psychology. Our online interventions for carers integrate online therapy, online social networking, peer and expert support, and online social problem solving which has been designed to reduce stress in carers. The initial version of our application entitled Meridian was shown to be safe, acceptable, and feasible in a feasibility study of carers of youth diagnosed with depression and anxiety. There was a significant reduction in self-reported levels of stress in caregivers and change in stress was significantly correlated with use of the system. We have subsequently launched a cluster RCT for caregivers with a relative diagnosed with first-episode psychosis. Our intervention has the potential to improve access to effective specialist support for families facing the onset of serious mental health problems in their young relative.

Cloning and Expression of Three New Azotobacter vinelandii Genes Closely Related to a Previously Described Gene Family Encoding Mannuronan C-5-Epimerases

OpenAIRE

Svanem, Britt Iren Glærum; Skjåk-Bræk, Gudmund; Ertesvåg, Helga; Valla, Svein

1999-01-01

The cloning and expression of a family of five modular-type mannuronan C-5-epimerase genes from Azotobacter vinelandii (algE1 to -5) has previously been reported. The corresponding proteins catalyze the Ca2+-dependent polymer-level epimerization of β-d-mannuronic acid to α-l-guluronic acid (G) in the commercially important polysaccharide alginate. Here we report the identification of three additional structurally similar genes, designated algE6, algE7, and algY. All three genes were sequenced...

Captive-bred neotropical birds diagnosed with Cryptosporidium Avian genotype III.

Science.gov (United States)

Silva Novaes, Ricardo; Pires, Marcus Sandes; Sudré, Adriana Pittella; Bergamo do Bomfim, Teresa Cristina

2018-02-01

Currently, there are only three valid species of Cryptosporidium infecting avian hosts, namely, Cryptosporidium meleagridis, Cryptosporidium baileyi, Cryptosporidium galli and Cryptosporidium avium in addition to 12 genotypes of unknown species status. The objectives of this study were to microscopically diagnose the presence of Cryptosporidium in birds from a commercial aviary located in Rio de Janeiro, Brazil; genotypically characterize species and/or genotypes of genus Cryptosporidum; and conduct sequencing and phylogenetic analyses to compare the obtained DNA sequences with those deposited in GenBank. A total of 85 fecal samples were collected from wild captive-bred birds: 48 of family Psittacidae and 37 of family Ramphastidae. Initially, a search for the presence of Cryptosporidium sp. oocysts was conducted using the centrifugal-flotation in saturated sugar solution technique, after that, the collected samples were analyzed microscopically. Cryptosporidium infections were only detected in 24.32% of samples belonging to the family Ramphastidae. DNA was extracted from positive samples and molecular diagnostics was applied targeting the 18S rRNA gene, followed by sequencing and phylogenetic analysis. The Cryptosporidium Avian genotype III was diagnosed in this study more closely related to the gastric species. This is the first record of Cryptosporidium Avian genotype III in order Piciformes and family Ramphastidae, where three host species (Ramphastus toco, Ramphastus tucanus, and Pteroglossus bailloni) were positive for the etiologic agent. Based on the molecular data obtained, these wild birds raised in captivity do not represent a source of human cryptosporidiosis, considering that Cryptosporidium Avian genotype III does not constitute a zoonosis. Copyright © 2017. Published by Elsevier B.V.

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

Importance of updating family cancer history in childhood cancer survivors.

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Russo, Selena; Warby, Meera; Tucker, Katherine M; Wakefield, Claire E; Cohn, Richard J

2017-10-01

Estimates of the number of childhood cancers with a genetic basis range from 5-8.5% found in germline samples to 29% based on clinical criteria. Family history-taking practice is a fundamental first step in detecting at risk individuals and families. This study focused on Li-Fraumeni Syndrome (LFS), a highly penetrant cancer syndrome. Reported family history in a cohort of 648 of cancer survivor cohort (CCS) was examined. Eligible CCS were: (i) aged up to 14 years at diagnosis; (ii) more than 5 years postdiagnosis; (iii) treated for a childhood cancer at the study hospitals in NSW, Australia; (iv) in remission for more than 3 years. CCS completed self-administered questionnaires. Medical records confirmed diagnosis and treatment-related information. Our findings reveal an increased cancer risk among sibling and relatives of CCS. 91% of siblings diagnosed with cancer were diagnosed under the age of 40 and about 30% diagnosed under the aged of 15 revealing a 5- (RR = 5.1; 95% CI, 3.3-7.9) and 44-fold (RR = 44.6; 95% CI, 18.4-108.3) increased risked of cancer compared with the Australian population, respectively. About 2% of CCS reported that they had been diagnosed with a genetic cancer syndrome. However, 11% of survivors described a family history pattern which met Chompret criteria for screening for TP53 mutations associated with LFS. Our data suggests that familial cancer predispositions may be initially overlooked. Aperiodic and accurate ascertainment of family cancer history of childhood cancer patients and survivors is therefore recommended.

A Questionnaire Study on the Attitudes and Previous Experience of Croatian Family Physicians toward their Preparedness for Disaster Management.

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Pekez-Pavliško, Tanja; Račić, Maja; Jurišić, Dinka

2018-04-01

To explore family physicians' attitudes, previous experience and self-assessed preparedness to respond or to assist in mass casualty incidents in Croatia. The cross-sectional survey was carried out during January 2017. Study participants were recruited through a Facebook group that brings together family physicians from Croatia. They were asked to complete the questionnaire, which was distributed via google.docs. Knowledge and attitudes toward disaster preparedness were evaluated by 18 questions. Analysis of variance, Student t test and Kruskal-Wallis test t were used for statistical analysis. Risk awareness of disasters was high among respondents (M = 4.89, SD=0.450). Only 16.4 of respondents have participated in the management of disaster at the scene. The majority (73.8%) of physicians have not been participating in any educational activity dealing with disaster over the past two years. Family physicians believed they are not well prepared to participate in national (M = 3.02, SD=0.856) and local community emergency response system for disaster (M = 3.16, SD=1.119). Male physicians scored higher preparedness to participate in national emergency response system for disaster ( p =0.012), to carry out accepted triage principles used in the disaster situation ( p =0.003) and recognize differences in health assessments indicating potential exposure to specific agents ( p =0,001) compared to their female colleagues. Croatian primary healthcare system attracts many young physicians, who can be an important part of disaster and emergency management. However, the lack of experience despite a high motivation indicates a need for inclusion of disaster medicine training during undergraduate studies and annual educational activities.

Relationships between diagnoses of sexually transmitted infections and urinary tract infections among male service members diagnosed with urethritis, active component, U.S. Armed Forces, 2000-2013.

Science.gov (United States)

2014-07-01

A previous MSMR report found that 42.8% of all incident (first-time) urinary tract infections (UTIs) in males, but only 0.4% of such UTIs in females, were diagnosed as "urethritis, unspecified" (ICD-9: 597.80). This study explored the possibility that many of the diagnoses of urethritis in males represented sexually transmitted infections (STIs), even though ICD-9: 597.80 is explicitly reserved for cases of urethritis that are deemed to not be sexually transmitted. Examined were relationships between diagnoses of urethritis, diagnoses of STIs, and recurrent diagnoses of UTIs. Male service members who received a diagnosis of "urethritis, unspecified" (ICD-9: 597.80) had an increased risk of a subsequent UTI diagnosis, especially of "urethritis, unspecified," compared to all male service members. Most service members who were diagnosed with "urethritis, unspecified" had no documented diagnoses of an STI in their Military Health System health records; however, recurrent UTIs were more common among service members who did have documented STIs. The most commonly diagnosed STIs in this study were "other non-gonococcal urethritis" (which includes that caused by Chlamydia trachomatis) and gonorrhea.

Accuracy of Veterans Affairs Databases for Diagnoses of Chronic Diseases

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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...

A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family

DEFF Research Database (Denmark)

Xiao, Cuiying; Zhang, Sizhong; Wang, Jun

2003-01-01

. The distinctive radiological signs and the X-linked mode of inheritance make it easy to diagnose. Here a four-generation Chinese SEDT family has been analyzed and the disease-causing mutation has been found. After polymerase chain reaction (PCR)-single strand conformation polymorphism (SSCP) analysis and DNA...... sequencing, a previously unreported deletion of T in exon 5 of SEDL gene (i.e. 293delT) was observed and seven individuals in the family carried the mutation. It results in frameshift and a putative truncated protein with the 97 N-terminal amino acids, and 9 changed amino acids. Therefore, loss of function...

Familial mesial temporal lobe epilepsy and the borderland of déjà vu.

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Perucca, Piero; Crompton, Douglas E; Bellows, Susannah T; McIntosh, Anne M; Kalincik, Tomas; Newton, Mark R; Vajda, Frank J E; Scheffer, Ingrid E; Kwan, Patrick; O'Brien, Terence J; Tan, K Meng; Berkovic, Samuel F

2017-08-01

The cause of mesial temporal lobe epilepsy (MTLE) is often unknown. We ascertained to what extent newly diagnosed nonlesional MTLE actually represents familial MTLE (FMTLE). We identified all consecutive patients presenting to the Austin Health First Seizure Clinic with MTLE and normal magnetic resonance imaging (MRI) or MRI evidence of hippocampal sclerosis over a 10-year period. Patients' first-degree relatives and pairwise age- and sex-matched controls underwent a comprehensive epilepsy interview. Each interview transcript was reviewed independently by 2 epileptologists, blinded to relative or control status. Reviewers classified each subject as follows: epilepsy, specifying if MTLE; manifestations suspicious for epilepsy; or unaffected. Physiological déjà vu was noted. Forty-four patients were included. At the Clinic, MTLE had been recognized to be familial in 2 patients only. Among 242 subjects interviewed, MTLE was diagnosed in 9 of 121 relatives versus 0 of 121 controls (p = 0.008). All affected relatives had seizures with intense déjà vu and accompanying features; 6 relatives had not been previously diagnosed. Déjà vu experiences that were suspicious, but not diagnostic, of MTLE occurred in 6 additional relatives versus none of the controls (p = 0.04). Physiological déjà vu was common, and did not differ significantly between relatives and controls. After completing the relatives' interviews, FMTLE was diagnosed in 8 of 44 patients (18.2%). FMTLE accounts for almost one-fifth of newly diagnosed nonlesional MTLE, and it is largely unrecognized without direct questioning of relatives. Relatives of patients with MTLE may experience déjà vu phenomena that clinically lie in the "borderland" between epileptic seizures and physiological déjà vu. Ann Neurol 2017;82:166-176. © 2017 American Neurological Association.

Effectiveness of Family, Child, and Family-Child Based Intervention on ADHD Symptoms of Students with Disabilities

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Malekpour, Mokhtar; Aghababaei, Sara; Hadi, Samira

2014-01-01

The aim of the present study was to investigate and compare the effectiveness of family, child, and family-child based intervention on the rate of ADHD symptoms in third grade students. The population for this study was all of students with ADHD diagnoses in the city of Isfahan, Iran. The multistage random sampling method was used to select the 60…

Hope pictured in drawings by women newly diagnosed with gynecological cancer

DEFF Research Database (Denmark)

Hammer, Kristianna; Hall, Elisabeth; Mogensen, Ole

2013-01-01

BACKGROUND:: In mysterious ways, hope makes life meaningful even in chaotic and uncontrolled situations. When a woman is newly diagnosed with gynecologic cancer, hope is ineffable and needs exploring. Drawings help express ineffable phenomena. OBJECTIVE:: The aim of the study was to explore how...... women newly diagnosed with gynecologic cancer express the meaning of hope in drawings. METHOD:: Participants were 15 women who on the same day had received the diagnosis of gynecologic cancer. They were between 24 and 87 years (median, 52 years) with a variety of gynecologic cancer diagnoses. Data from...... 15 drawings and postdrawing interviews with the women were analyzed using visual and hermeneutic phenomenology. RESULTS:: Three themes emerged: hope as a spirit to move on, hope as energy through nature, and hope as a communion with families. CONCLUSION:: Hope as pictured in drawings often appears...

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

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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.

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...

Diagnosing CADASIL using MRI: evidence from families with known mutations of Notch 3 gene

International Nuclear Information System (INIS)

Chawda, S.J.; Lange, R.P.J. de; St-Clair, D.; Hourihan, M.D.; Halpin, S.F.S.

2000-01-01

Clinical data and MRI findings are presented on 18 subjects from two families with neuropathologically confirmed CADASIL. DNA analysis revealed mutations in exon 4 of Notch 3 gene in both families. All family members with mutations in Notch 3 gene had extensive abnormalities on MRI, principally lesions in the white matter of the frontal lobes and in the external capsules. Of several family members in whom a diagnosis of CADASIL was suspected on the basis of minor symptoms, one had MRI changes consistent with CADASIL; none of these cases carried a mutation in the Notch 3 gene. MRI and clinical features that may alert the radiologist to the diagnosis of CADASIL are reviewed. However, a wide differential diagnosis exists for the MRI appearances of CADASIL, including multiple sclerosis and small-vessel disease secondary to hypertension. The definitive diagnosis cannot be made on MRI alone and requires additional evidence, where available, from a positive family history and by screening DNA for mutations of Notch 3 gene. (orig.)

Parent Perceptions of Family Social Supports in Families With Children With Epilepsy.

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Decker, Kim A; Miller, Wendy R; Buelow, Janice M

2016-12-01

When a child is diagnosed with epilepsy, not only has the child's life been disrupted but also the family's sense of normalcy. Although there is considerable literature discussing family concerns and social support issues in families with chronically ill children, a major gap lies in the exploration of how the specifics of childhood epilepsy affect parents and family operations. The purpose of this study was to identify psychosocial care needs of parents of children with epilepsy. Utilizing the Family Systems Nursing theory as a framework, this correlation study examined the relationships among social and community support, family needs, family empowerment, and family quality of life in 29 primary caregivers of a child with epilepsy. These families felt highly supported; they had low needs and high perceptions of empowerment. There was a negative association between social supports and the total family needs survey scale and the subscales of financial support, help regarding explaining to others, and professional support. There was no association between family empowerment or quality of life with parental perceptions of social support. In general, as parental perceptions of family needs increased, perceptions of familial social supports decreased. Further research is recommended to investigate varying socioeconomic status effects in families with children with pediatric epilepsy.

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

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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.

Conflict adaptation in patients diagnosed with schizophrenia.

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Abrahamse, Elger; Ruitenberg, Marit; Boddewyn, Sarah; Oreel, Edith; de Schryver, Maarten; Morrens, Manuel; van Dijck, Jean-Philippe

2017-11-01

Cognitive control impairments may contribute strongly to the overall cognitive deficits observed in patients diagnosed with schizophrenia. In the current study we explore a specific cognitive control function referred to as conflict adaptation. Previous studies on conflict adaptation in schizophrenia showed equivocal results, and, moreover, were plagued by confounded research designs. Here we assessed for the first time conflict adaptation in schizophrenia with a design that avoided the major confounds of feature integration and stimulus-response contingency learning. Sixteen patients diagnosed with schizophrenia and sixteen healthy, matched controls performed a vocal Stroop task to determine the congruency sequence effect - a marker of conflict adaptation. A reliable congruency sequence effect was observed for both healthy controls and patients diagnosed with schizophrenia. These findings indicate that schizophrenia is not necessarily accompanied by impaired conflict adaptation. As schizophrenia has been related to abnormal functioning in core conflict adaptation areas such as anterior cingulate and dorsolateral prefrontal cortex, further research is required to better understand the precise impact of such abnormal brain functioning at the behavioral level. Copyright © 2017 Elsevier B.V. All rights reserved.

Molecular study of the perforin gene in familial hematological malignancies

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El Abed Rim

2011-09-01

Full Text Available Abstract Perforin gene (PRF1 mutations have been identified in some patients diagnosed with the familial form of hemophagocytic lymphohistiocytosis (HLH and in patients with lymphoma. The aim of the present study was to determine whether patients with a familial aggregation of hematological malignancies harbor germline perforin gene mutations. For this purpose, 81 unrelated families from Tunisia and France with aggregated hematological malignancies were investigated. The variants detected in the PRF1 coding region amounted to 3.7% (3/81. Two of the three variants identified were previously described: the p.Ala91Val pathogenic mutation and the p.Asn252Ser polymorphism. A new p.Ala 211Val missense substitution was identified in two related Tunisian patients. In order to assess the pathogenicity of this new variation, bioinformatic tools were used to predict its effects on the perforin protein structure and at the mRNA level. The segregation of the mutant allele was studied in the family of interest and a control population was screened. The fact that this variant was not found to occur in 200 control chromosomes suggests that it may be pathogenic. However, overexpression of mutated PRF1 in rat basophilic leukemia cells did not affect the lytic function of perforin differently from the wild type protein.

A possible new syndrome with growth-hormone secreting pituitary adenoma, colonic polyposis, lipomatosis, lentigines and renal carcinoma in association with familial testicular germ cell malignancy: A case report

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Mai Phuong L

2007-03-01

Full Text Available Abstract Background Germ-cell testicular cancer has not been definitively linked to any known hereditary cancer susceptibility disorder. Familial testicular cancer in the presence of other findings in affected and unaffected family members might indicate a previously-unidentified hereditary cancer syndrome. Case presentation The patient was diagnosed with a left testicular seminoma at age 28, and treated with left orchiectomy followed by adjuvant cobalt radiation. His family history is significant for testicular seminoma in his son, bladder cancer in his sister, and lipomatosis in his father. His evaluation as part of an etiologic study of familial testicular cancer revealed multiple colon polyps (adenomatous, hyperplastic, and hamartomatous first found in his 50 s, multiple lipomas, multiple hyperpigmented skin lesions, left kidney cancer diagnosed at age 64, and a growth-hormone producing pituitary adenoma with associated acromegaly diagnosed at age 64. The patient underwent genetic testing for Cowden syndrome (PTEN gene, Carney complex (PRKAR1A gene, and multiple endocrine neoplasia syndrome type 1 (MEN1 gene; no deleterious mutations were identified. Discussion The constellation of benign and malignant neoplasms in the context of this patient's familial testicular cancer raised the possibility that these might be manifestations of a known hereditary susceptibility cancer syndrome; however, genetic testing for the three syndromes that were most likely to explain these findings did not show any mutation. Alternatively, this family's phenotype might represent a novel neoplasm susceptibility disorder. This possibility cannot be evaluated definitively on the basis of a single case report; additional observations and studies are necessary to investigate this hypothesis further.

A novel 5-bp deletion in Clarin 1 in a family with Usher syndrome.

Science.gov (United States)

Akoury, Elie; El Zir, Elie; Mansour, Ahmad; Mégarbané, André; Majewski, Jacek; Slim, Rima

2011-11-01

To identify the genetic defect in a Lebanese family with two sibs diagnosed with Usher Syndrome. Exome capture and sequencing were performed on DNA from one affected member using Agilent in solution bead capture, followed by Illumina sequencing. This analysis revealed the presence of a novel homozygous 5-bp deletion, in Clarin 1 (CLRN1), a known gene responsible for Usher syndrome type III. The deletion is inherited from both parents and segregates with the disease phenotype in the family. The 5-bp deletion, c.301_305delGTCAT, p.Val101SerfsX27, is predicted to result in a frameshift and protein truncation after 27 amino acids. Sequencing all the coding regions of the CLRN1 gene in the proband did not reveal any other mutation or variant. Here we describe a novel deletion in CLRN1. Our data support previously reported intra familial variability in the clinical features of Usher syndrome type I and III.

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

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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.

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.

Dysfunctional Families of the Student with Special Needs.

Science.gov (United States)

Daniels-Mohring, Debbie; Lambie, Rosemary

1993-01-01

This paper outlines the changes that occur in family systems when a child is diagnosed with special needs and examines the structure of dysfunctional families in which there is a child with physical disabilities, including chronic illness; behavior disorders, including social maladjustment; learning disabilities; or mental retardation. (JDD)

Unusual xanthomas in a young patient with heterozygous familial hypercholesterolemia and type III hyperlipoproteinemia

Energy Technology Data Exchange (ETDEWEB)

Feussner, G.; Dobmeyer, J. [Univ. of Heidelberg (Germany); Nissen, H.; Hansen, T.S. [Odense Univ. Hospital (Denmark)

1996-10-16

We report on a 20-year-old man with the combination of two independent familial lipoprotein disorders: heterozygous familial hypercholesterolemia (FH) and type III hyperlipoproteinemia (HLP). Familial hypercholesterolemia was diagnosed by elevated total and low density lipoprotein cholesterol levels and family history. By denaturing gradient gel electrophoresis, DNA sequencing and restriction fragment length polymorphism analysis, a G{r_arrow}A splice donor mutation in intron 3 of the proband`s low density lipoprotein receptor gene was identified as the underlying molecular defect. This mutation was described previously as a receptor-negative founder mutation in Norway (FH-Elverum) and subsequently in 6 unrelated heterozygous English patients, creating a severe phenotype of familial hypercholesterolemia. Type III HLP was confirmed by homozygosity for apolipoprotein (apo) E2 and an elevated ratio of very low density lipoprotein cholesterol to serum triglycerides (0.40; normal ratio about 0.20). The patient has unusual flat xanthomas in the interdigital webs of the hands which are normally not found in either disease. These dermatological findings might therefore be indicative of the rare combination of both disorders of lipoprotein metabolism in one individual. 29 refs., 5 figs., 1 tab.

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…

Diagnosis and management of hypertension: the stated practices of family physicians.

OpenAIRE

Dunn, E.; Hilditch, J.; Chipman, M.; Hardacre, G.; Morrison, M.

1984-01-01

Hypertension is an important and common problem in family practice, but there is no general agreement on the systolic and diastolic pressures at which it should be diagnosed and treated. Responses from 273 family physicians surveyed by mail in Metropolitan Toronto showed a wide variation in the pressures used as cut-off points. The probability that in a given patient hypertension would be diagnosed or treated at different systolic and diastolic pressures varied considerably among the physicia...

Family profiles in eating disorders: family functioning and psychopathology

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Cerniglia L

2017-10-01

Full Text Available Luca Cerniglia,1 Silvia Cimino,2 Mimma Tafà,2 Eleonora Marzilli,2 Giulia Ballarotto,2 Fabrizia Bracaglia2 1Faculty of Psychology, International Telematic University UNINETTUNO, 2Department of Dynamic and Clinical Psychology, University of Rome “La Sapienza”, Rome, Italy Abstract: Research has studied family functioning in families of patients suffering from eating disorders (EDs, particularly investigating the associations between mothers’ and daughters’ psychopathological symptoms, but limited studies have examined whether there are specific maladaptive psychological profiles characterizing the family as a whole when it includes adolescents with anorexia nervosa (AN, bulimia nervosa (BN, and binge eating disorder (BED. Through the collaboration of a network of public and private consultants, we recruited n=181 adolescents diagnosed for EDs (n=61 with AN, n=60 with BN, and n=60 with BEDs and their parents. Mothers, fathers, and youths were assessed through a self-report measure evaluating family functioning, and adolescents completed a self-report questionnaire assessing psychopathological symptoms. Results showed specific family functioning and psychopathological profiles based on adolescents’ diagnosis. Regression analyses also showed that family functioning characterized by rigidity predicted higher psychopathological symptoms. Our study underlines the importance of involving all members of the family in assessment and intervention programs when adolescent offspring suffer from EDs. Keywords: family functioning, eating disorders, adolescents, psychopathological risk

Perceived Family Resources Based on Number of Members with ADHD

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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…

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

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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.

Experiences of Batswana women diagnosed with both HIV/AIDS and cervical cancer

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T. Molefe

2009-09-01

Full Text Available The central phenomenon of interest to the authors was the experiences of Batswana women who have been diagnosed with both HIV/AIDS and cervical cancer. They wanted to know how these women and their families coped with the burden of the two ‘fatal’ diseases. This interest was brought about by the current surge in cervical cancer cases in the country, and the relationship between the two diseases. There is scant literature on the experiences of women with the dual diagnosis of HIV/AIDS and cervical cancer. The purpose of the study was to explore the experiences of Batswana women who are diagnosed with both HIV/AIDS and cervical cancer. The research question was ‘What are the experiences of Batswana women diagnosed with both HIV/AIDS and cervical cancer?’ A phenomenological descriptive qualitative research design was therefore appropriate to answer the research question. Semi-structured interviews and field notes were used to collect data. One-to-one interviews were conducted with six women diagnosed with the two diseases. Both convenience and purposive sampling techniques were used in selection of participants. The seven procedural steps proposed by Collaizi (1978 were utilized in data analysis as the study was based on the phenomenology approach. The findings revealed that HIV/AIDS and cervical cancer are chronic illnesses that can instill chronic emotional pain. Reactions to diagnosis with these diseases include pain, fear or intense sadness. Coping with these conditions can be facilitated by different strategies such as acceptance, having hope, support from others and positive thinking. Support can come from children, family members, informal or formal groups and health service providers.

Illness perspectives of Thais diagnosed with schizophrenia.

Science.gov (United States)

Sanseeha, Ladda; Chontawan, Ratanawadee; Sethabouppha, Hunsa; Disayavanish, Chamlong; Turale, Sue

2009-09-01

This study explored the perceptions of 18 people diagnosed with schizophrenia from 1-10 years to uncover how they perceived themselves and their illness. It also involved 12 family members who added their perceptions. The data were collected using in-depth interviews, reflective journaling, and observations. The data were analyzed through the lens of Heidegger's hermeneutic phenomenology. Four themes emerged: perceptions of mental illness, perceptions of the causes of illness, perceptions of discrimination, and attempting to live with schizophrenia. The findings included strong underlying cultural and spiritual beliefs, and attitudes unique to the Thai participants, including the causation of schizophrenia by supernatural powers, black magic, and bad karma stemming from past deeds. Understanding the perceptions of the participants might help health-care providers to be more sensitive to those living with schizophrenia in Thailand and elsewhere. In particular, the findings could be useful in informing psychiatric careproviders about developing better caring systems for clients diagnosed with schizophrenia. This should help the sufferers of schizophrenia to live their lives to their own satisfaction and as normally as possible.

Predicting parental distress among children newly diagnosed with craniopharyngioma.

Science.gov (United States)

Peterson, Rachel K; Ashford, Jason M; Scott, Sarah M; Wang, Fang; Zhang, Hui; Bradley, Julie A; Merchant, Thomas E; Conklin, Heather M

2018-06-22

Childhood brain tumor diagnoses are stressful for families. Children diagnosed with craniopharyngioma (Cp) present with particularly challenging medical and cognitive problems due to tumor location and associated biophysiologic comorbidities. This study examined parental distress in a sample of families of patients with Cp treated with proton beam therapy to identify factors for targeting psychological intervention. Prior to (n = 96) and 1 year after (n = 73) proton therapy, parents of children diagnosed with Cp (9.81 ± 4.42 years at baseline; 49% male) completed a self-report measure of distress, the Brief Symptom Inventory (BSI). Children completed cognitive assessment measures at baseline; medical variables were extracted from the study database. At baseline, t-tests revealed parents reported higher levels of distress than normative expectations on Anxiety, Depression, Global Severity, and Positive Symptom Distress BSI scales (P < 0.05). Linear mixed effects models revealed parent report measures of child executive dysfunction and behavioral issues were more predictive of parental distress than patients' cognitive performance or medical status (P < 0.05). Models also revealed a significant reduction only in Anxiety over time (t = -2.19, P < 0.05). Extensive hypothalamic involvement at baseline predicted this reduction (P < 0.05). Parents experience significant distress before their child begins adjuvant therapy for Cp, though parental distress appears largely unrelated to medical complications and more related to parent perceptions of child cognitive difficulties (vs. child performance). Importantly, this may be explained by a negative parent reporting style among distressed parents. Knowledge of socio-emotional functioning in parents related to patient characteristics is important for optimization of psychological intervention. © 2018 Wiley Periodicals, Inc.

Pertussis-associated persistent cough in previously vaccinated children.

Science.gov (United States)

Principi, Nicola; Litt, David; Terranova, Leonardo; Picca, Marina; Malvaso, Concetta; Vitale, Cettina; Fry, Norman K; Esposito, Susanna

2017-11-01

To evaluate the role of Bordetella pertussis infection, 96 otherwise healthy 7- to 17-year-old subjects who were suffering from a cough lasting from 2 to 8 weeks were prospectively recruited. At enrolment, a nasopharyngeal swab and an oral fluid sample were obtained to search for pertussis infection by the detection of B. pertussis DNA and/or an elevated titre of anti-pertussis toxin IgG. Evidence of pertussis infection was found in 18 (18.7 %; 95 % confidence interval, 11.5-28.0) cases. In 15 cases, the disease occurred despite booster administration. In two cases, pertussis was diagnosed less than 2 years after the booster injection, whereas in the other cases it was diagnosed between 2 and 9 years after the booster dose. This study used non-invasive testing to show that pertussis is one of the most important causes of long-lasting cough in school-age subjects. Moreover, the protection offered by acellular pertussis vaccines currently wanes more rapidly than previously thought.

Dutch family physicians' awareness of cognitive impairment among the elderly

NARCIS (Netherlands)

van den Dungen, P.; van Charante, E.P.M.; van de Ven, P.M.; Foppes, G.; van Campen, J.P.C.M.; van Marwijk, H.W.J.; van der Horst, H.E.; van Hout, H.P.J.

2015-01-01

Background: Dementia is often not formally diagnosed in primary care. To what extent this is due to family physicians' (FPs) watchful waiting, reluctance to diagnose or to their unawareness of the presence of cognitive impairment is unclear. The objective of this study was to assess FPs' awareness

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3.

Science.gov (United States)

Eisenberger, Tobias; Slim, Rima; Mansour, Ahmad; Nauck, Markus; Nürnberg, Gudrun; Nürnberg, Peter; Decker, Christian; Dafinger, Claudia; Ebermann, Inga; Bergmann, Carsten; Bolz, Hanno Jörn

2012-09-02

Usher syndrome (USH) is an autosomal recessive genetically heterogeneous disorder with congenital sensorineural hearing impairment and retinitis pigmentosa (RP). We have identified a consanguineous Lebanese family with two affected members displaying progressive hearing loss, RP and cataracts, therefore clinically diagnosed as USH type 3 (USH3). Our study was aimed at the identification of the causative mutation in this USH3-like family. Candidate loci were identified using genomewide SNP-array-based homozygosity mapping followed by targeted enrichment and next-generation sequencing. Using a capture array targeting the three identified homozygosity-by-descent regions on chromosomes 1q43-q44, 20p13-p12.2 and 20p11.23-q12, we identified a homozygous nonsense mutation, p.Arg65X, in ABHD12 segregating with the phenotype. Mutations of ABHD12, an enzyme hydrolyzing an endocannabinoid lipid transmitter, cause PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and early-onset cataract). After the identification of the ABHD12 mutation in this family, one patient underwent neurological examination which revealed ataxia, but no polyneuropathy. ABHD12 is not known to be related to the USH protein interactome. The phenotype of our patient represents a variant of PHARC, an entity that should be taken into account as differential diagnosis for USH3. Our study demonstrates the potential of comprehensive genetic analysis for improving the clinical diagnosis.

Dutch family physicians' awareness of cognitive impairment among the elderly

NARCIS (Netherlands)

van den Dungen, Pim; Moll van Charante, Eric P.; van de Ven, Peter M.; Foppes, Gerbrand; van Campen, Jos P. C. M.; van Marwijk, Harm W. J.; van der Horst, Henriëtte E.; van Hout, Hein P. J.

2015-01-01

Dementia is often not formally diagnosed in primary care. To what extent this is due to family physicians' (FPs) watchful waiting, reluctance to diagnose or to their unawareness of the presence of cognitive impairment is unclear. The objective of this study was to assess FPs' awareness of cognitive

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.

Family-based clusters of cognitive test performance in familial schizophrenia

Directory of Open Access Journals (Sweden)

Partonen Timo

2004-07-01

Full Text Available Abstract Background Cognitive traits derived from neuropsychological test data are considered to be potential endophenotypes of schizophrenia. Previously, these traits have been found to form a valid basis for clustering samples of schizophrenia patients into homogeneous subgroups. We set out to identify such clusters, but apart from previous studies, we included both schizophrenia patients and family members into the cluster analysis. The aim of the study was to detect family clusters with similar cognitive test performance. Methods Test scores from 54 randomly selected families comprising at least two siblings with schizophrenia spectrum disorders, and at least two unaffected family members were included in a complete-linkage cluster analysis with interactive data visualization. Results A well-performing, an impaired, and an intermediate family cluster emerged from the analysis. While the neuropsychological test scores differed significantly between the clusters, only minor differences were observed in the clinical variables. Conclusions The visually aided clustering algorithm was successful in identifying family clusters comprising both schizophrenia patients and their relatives. The present classification method may serve as a basis for selecting phenotypically more homogeneous groups of families in subsequent genetic analyses.

Psychiatric and family functioning in children with leukemia and their parents

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Goodarzi A

1999-07-01

Full Text Available The present study reports data from a cross-sectional investigation of the psychiatric and psychosocial functioning of 55 children diagnosed with acute lymphocytic leukemia and their families at three points in time: diagnosis (newly diagnosed, 1 year postdiagnosis, and 1 year after the completion of chemotherapy (offtherapy. Results reveal minimal psychopathology in these children and their parents based on self-and informantreports and structured diagnostic interviews. These families appear to be functioning adequately and report more family cohesiveness and marital satisfaction after chemotherapy was completed. Coping strategies commonly used by children and their parents include problem solving, a positive outlook, and good communication. Implications for psychiatric consultation are presented.

Left ventricular asynergy score as an indicator of previous myocardial infarction

International Nuclear Information System (INIS)

Backman, C.; Jacobsson, K.A.; Linderholm, H.; Osterman, G.

1986-01-01

Sixty-eight patients with coronary heart disease (CHD) i.e. a hisotry of angina of effort and/or previous 'possible infarction' were examined inter alia with ECG and cinecardioangiography. A system of scoring was designed which allowed a semiquantitative estimate of the left ventricular asynergy from cinecardioangiography - the left ventricular motion score (LVMS). The LVMS was associated with the presence of a previous myocardial infarction (MI), as indicated by the history and ECG findings. The ECG changes specific for a previous MI were associated with high LVMS values and unspecific or absent ECG changes with low LVMS values. Decision thresholds for ECG changes and asynergy in diagnosing a previous MI were evaluated by means of a ROC analysis. The accuracy of ECG in detecting a previous MI was slightly higher when asynergy indicated a 'true MI' than when autopsy result did so in a comparable group. Therefore the accuracy of asynergy (LVMS ≥ 1) in detecting a previous MI or myocardial fibrosis in patients with CHD should be at least comparable with that of autopsy (scar > 1 cm). (orig.)

Diagnosed Intellectual and Emotional Impairment among Parents Who Seriously Mistreat Their Children: Prevalence, Type, and Outcome in a Court Sample.

Science.gov (United States)

Taylor, Carol G.; And Others

1991-01-01

This study examined the court records of 206 seriously abused or neglected children and their families in a large urban area and found that in over half the records a parent had been diagnosed as having an emotional disorder and/or low intelligence, with a majority of these diagnoses indicating significant impairment. (Author/DB)

Family First? The Costs and Benefits of Family Centrality for Adolescents with High-Conflict Families.

Science.gov (United States)

Yuen, Cynthia X; Fuligni, Andrew J; Gonzales, Nancy; Telzer, Eva H

2018-02-01

Youth who do not identify with or value their families (i.e., low family centrality) are considered to be at risk for maladjustment. However, the current study investigated whether low family centrality may be adaptive in negative family contexts (i.e., high family conflict) because youth's self-worth should be less tied to the quality of their family relationships. Multilevel models using daily diaries and latent variable interactions using longitudinal questionnaires indicated that, among a sample of 428 Mexican American adolescents (49.8% male, M age  = 15.02 years), lower family centrality was generally detrimental to youth's well-being. However, for youth in adverse family environments, low family centrality ceased to function as a risk factor. The present findings suggest that family centrality values play a more nuanced role in youth well-being than previously believed, such that low family centrality may be an adaptive response to significant family challenges.

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…

Reduced bone mineral density in adult women diagnosed with menstrual disorders during adolescence.

Science.gov (United States)

Wiksten-Almströmer, Marianne; Hirschberg, Angelica Lindën; Hagenfeldt, Kerstin

2009-01-01

To evaluate the long-term effects on bone mineral density (BMD) in women diagnosed with menstrual disorders in their adolescence. Prospective follow-up study six years after the initial investigation. A youth clinic that is part of the school health system in Stockholm. Eighty-seven women diagnosed with secondary amenorrhea or oligomenorrhea in adolescence. Subjects underwent gynecological examination, evaluation of eating behavior and physical activity. Whole body Dual Energy X-ray Absorptiometry was used for measurement of BMD. BMD. The overall frequency of osteopenia/osteoporosis was 52%, and three girls had osteoporosis. Women with previous secondary amenorrhea had significantly lower BMD in the pelvis and lumbar spine than those with previous oligomenorrhea. The strongest predictor of low BMD was a restrictive eating disorder in adolescence and the most important counteraction was high physical activity at follow-up and a body mass index (BMI) > or = 22. Persistent menstrual dysfunction at follow-up was associated with polycystic ovary syndrome and lower frequency of osteopenia. This clinical follow-up study has demonstrated a high frequency of osteopenia in women diagnosed with menstrual disorders in adolescence. Previous anorectic behavior was the strongest negative predictor of BMD. It is important to pay attention to an underlying eating disorder in young women with menstrual dysfunction in order to promote bone health.

Psychiatry Training in Canadian Family Medicine Residency Programs

OpenAIRE

Kates, Nick; Toews, John; Leichner, Pierre

1985-01-01

Family physicians may spend up to 50% of their time diagnosing and managing mental disorders and emotional problems, but this is not always reflected in the training they receive. This study of the teaching of psychiatry in the 16 family medicine residency programs in Canada showed that although the majority of program directors are reasonably satisfied with the current training, they see room for improvement—particularly in finding psychiatrists with a better understanding of family practice...

Frequency and characteristics of familial melanoma in Spain: the FAM-GEM-1 Study.

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Iván Márquez-Rodas

Full Text Available Familial history of melanoma is a well-known risk factor for the disease, and 7% melanoma patients were reported to have a family history of melanoma. Data relating to the frequency and clinical and pathological characteristics of both familial and non-familial melanoma in Spain have been published, but these only include patients from specific areas of Spain and do not represent the data for the whole of Spain.An observational study conducted by the Spanish Group of Melanoma (GEM analyzed the family history of patients diagnosed with melanoma between 2011 and 2013 in the dermatology and oncology departments.In all, 1047 patients were analyzed, and 69 (6.6% fulfilled criteria for classical familial melanoma (two or more first-degree relatives diagnosed with melanoma. Taking into account other risk factors for familial melanoma, such as multiple melanoma, pancreatic cancer in the family or second-degree relatives with melanoma, the number of patients fulfilling the criteria increased to 165 (15.8%. Using a univariate analysis, we determined that a Breslow index of less than 1 mm, negative mitosis, multiple melanoma, and a history of sunburns in childhood were more frequent in familial melanoma patients, but a multivariate analysis revealed no differences in any pathological or clinical factor between the two groups.Similar to that observed in other countries, familial melanoma accounts for 6.6% of melanoma diagnoses in Spain. Although no differences in the multivariate analysis were found, some better prognosis factors, such as Breslow index, seem more frequent in familial melanoma, which reflect a better early detection marker and/or a different biological behavior.

Validation of cardiovascular diagnoses in the Greenlandic Hospital Discharge Register for epidemiological use

DEFF Research Database (Denmark)

Tvermosegaard, Maria; Ronn, Pernille Falberg; Pedersen, Michael Lynge

2018-01-01

not previously been validated specifically. The objective of the study was to validate diagnoses of CVD in GHDR. The study was conducted as a validation study with primary investigator comparing information in GHDR with information in medical records. Diagnoses in GHDR were considered correct and thus valid......Cardiovascular disease (CVD) is one of the leading causes of death worldwide. In Greenland, valid estimates of prevalence and incidence of CVD do not exist and can only be calculated if diagnoses of CVD in the Greenlandic Hospital Discharge Register (GHDR) are correct. Diagnoses of CVD in GHDR have...... if they matched the diagnoses or the medical information in the medical records. A total of 432 online accessible medical records with a cardiovascular diagnosis according to GHDR from Queen Ingrid's Hospital from 2001 to 2013 (n=291) and from local health care centres from 2007 to 2013 (n=141) were reviewed...

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.

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.

A comparison of morbidity associated with placenta previa with and without previous caesarean sections

International Nuclear Information System (INIS)

Baqai, S.; Siraj, A.; Noor, N.

2018-01-01

To compare the morbidity associated with placenta previa with and without previous caesarean sections. Study Design: Retrospective comparative study. Place and Duration of Study: From March 2014 till March 2016 in the department of Obstetrics and Gynaecology at PNS Shifa hospital Karachi. Material and Methods: After the approval from hospital ethical committee, antenatal patients with singleton pregnancy of gestational age >32 weeks, in the age group of 20-40 years diagnosed to have placenta previa included in the study. All patients with twin pregnancy less than 20 years and more than 40 years of age were excluded. The records of all patients fulfilling the inclusion criteria were reviewed. Data had been collected for demographic and maternal variables, placenta previa, history of previous lower segment caesarean section (LSCS), complications associated with placenta previa and techniques used to control blood loss were recorded. Results: During the study period, 6879 patients were delivered in PNS Shifa, out of these, 2060 (29.9%) had caesarean section out of these, 47.3% patients had previous history of LSCS. Thirty three (1.6%) patients were diagnosed to have placenta previa and frequency of placenta previa was significantly higher in patients with previous history of LSCS than previous normal delivery of LSCS i.e. 22 vs. 11 (p=0.023). It was observed that the frequency of morbidly adherent placenta (MAP) and Intensive care unit (ICU) stay were significantly higher in patients with previous history of LSCS than previous history of normal delivery. Conclusion: Frequency of placenta previa was significantly higher in patients with history of LSCS. Also placenta previa remains a major risk factor for various maternal complications. (author)

[Familial occurrence of diprosopus in German Holstein calves].

Science.gov (United States)

Schulze, Ursula; Kuiper, Heidi; Doeleke, Renate; Ulrich, Reiner; Gerdwilker, Axel; Distl, Ottmar

2006-01-01

Diprosopus was diagnosed in six German Holstein calves born on different dairy farms. The degree of facial duplication varied from a partial doubling of the nostrils and upper jaw to complete duplication of the face with formation of two mouths, four eyes and four ears. Further calves descending from the same parents or dams and calves from the same farms were not affected. A joint pedigree was ascertained for the calves with diprosopus. Furthermore, a previously reported case of diprosopus could be traced back to the same ancestors of this pedigree. Consequently, we detected the first time a familial accumulation of diprosopus. Since the ancestors showed no signs of diprosopus and the frequency of diprosopus in German Holsteins is presumably low, an oligogenic inheritance is likely. Recessive genes or a combination of recessive and dominant genes may cause this anomaly.

Clinical and immunological status of a newly diagnosed HIV positive ...

African Journals Online (AJOL)

Objective: To evaluate the clinical and the immune status of newly HIV diagnosed patients, in Marrakech city and its neighboring area, in Morocco. Methods: We performed a retrospective study on 235 patients who have been previously confirmed for HIV infection, and underwent a CD4 T cells using flow cytometry ...

Association of Previous Clinical Breast Examination With Reduced Delays and Earlier-Stage Breast Cancer Diagnosis Among Women in Peru.

Science.gov (United States)

Romanoff, Anya; Constant, Tara Hayes; Johnson, Kay M; Guadiamos, Manuel Cedano; Vega, Ana María Burga; Zunt, Joseph; Anderson, Benjamin O

2017-11-01

Mammographic screening is impractical in most of the world where breast cancers are first identified based on clinical signs and symptoms. Clinical breast examination may improve early diagnosis directly by finding breast cancers at earlier stages or indirectly by heightening women's awareness of breast health concerns. To investigate factors that influence time to presentation and stage at diagnosis among patients with breast cancer to determine whether history of previous clinical breast examination is associated with earlier presentation and/or earlier cancer stage at diagnosis. In this cross-sectional analysis of individual patient interviews using a validated Breast Cancer Delay Questionnaire, 113 (71.1%) of 159 women with breast cancer treated at a federally funded tertiary care referral cancer center in Trujillo, Peru, from February 1 through May 31, 2015, were studied. Method of breast cancer detection and factors that influence time to and stage at diagnosis. Of 113 women with diagnosed cancer (mean [SD] age, 54 [10.8] years; age range, 32-82 years), 105 (92.9%) had self-detected disease. Of the 93 women for whom stage was documented, 45 (48.4%) were diagnosed with early-stage disease (American Joint Committee on Cancer [AJCC] stage 0, I, or II), and 48 (51.6%) were diagnosed with late-stage disease (AJCC stage III or IV). Mean (SD) total delay from symptom onset to initiation of treatment was 407 (665) days because of patient (mean [SD], 198 [449] days) and health care system (mean [SD], 241 [556] days) delay. Fifty-two women (46.0%) had a history of clinical breast examination, and 23 (20.4%) had undergone previous mammography. Women who underwent a previous clinical breast examination were more likely to have shorter delays from symptom development to presentation compared with women who had never undergone a previous clinical breast examination (odds ratio, 2.92; 95% CI, 1.30-6.60; P = .01). Women diagnosed with shorter patient delay were more

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

Science.gov (United States)

2012-01-01

Background Usher syndrome (USH) is an autosomal recessive genetically heterogeneous disorder with congenital sensorineural hearing impairment and retinitis pigmentosa (RP). We have identified a consanguineous Lebanese family with two affected members displaying progressive hearing loss, RP and cataracts, therefore clinically diagnosed as USH type 3 (USH3). Our study was aimed at the identification of the causative mutation in this USH3-like family. Methods Candidate loci were identified using genomewide SNP-array-based homozygosity mapping followed by targeted enrichment and next-generation sequencing. Results Using a capture array targeting the three identified homozygosity-by-descent regions on chromosomes 1q43-q44, 20p13-p12.2 and 20p11.23-q12, we identified a homozygous nonsense mutation, p.Arg65X, in ABHD12 segregating with the phenotype. Conclusion Mutations of ABHD12, an enzyme hydrolyzing an endocannabinoid lipid transmitter, cause PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and early-onset cataract). After the identification of the ABHD12 mutation in this family, one patient underwent neurological examination which revealed ataxia, but no polyneuropathy. ABHD12 is not known to be related to the USH protein interactome. The phenotype of our patient represents a variant of PHARC, an entity that should be taken into account as differential diagnosis for USH3. Our study demonstrates the potential of comprehensive genetic analysis for improving the clinical diagnosis. PMID:22938382

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

Directory of Open Access Journals (Sweden)

Eisenberger Tobias

2012-09-01

Full Text Available Abstract Background Usher syndrome (USH is an autosomal recessive genetically heterogeneous disorder with congenital sensorineural hearing impairment and retinitis pigmentosa (RP. We have identified a consanguineous Lebanese family with two affected members displaying progressive hearing loss, RP and cataracts, therefore clinically diagnosed as USH type 3 (USH3. Our study was aimed at the identification of the causative mutation in this USH3-like family. Methods Candidate loci were identified using genomewide SNP-array-based homozygosity mapping followed by targeted enrichment and next-generation sequencing. Results Using a capture array targeting the three identified homozygosity-by-descent regions on chromosomes 1q43-q44, 20p13-p12.2 and 20p11.23-q12, we identified a homozygous nonsense mutation, p.Arg65X, in ABHD12 segregating with the phenotype. Conclusion Mutations of ABHD12, an enzyme hydrolyzing an endocannabinoid lipid transmitter, cause PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and early-onset cataract. After the identification of the ABHD12 mutation in this family, one patient underwent neurological examination which revealed ataxia, but no polyneuropathy. ABHD12 is not known to be related to the USH protein interactome. The phenotype of our patient represents a variant of PHARC, an entity that should be taken into account as differential diagnosis for USH3. Our study demonstrates the potential of comprehensive genetic analysis for improving the clinical diagnosis.

Trends in HIV diagnoses and testing among U.S. adolescents and young adults.

Science.gov (United States)

Hall, H Irene; Walker, Frances; Shah, Daxa; Belle, Eboni

2012-01-01

The Centers for Disease Control and Prevention recommends routine HIV screening in health care settings. Using national surveillance data, we assessed trends in HIV diagnoses and testing frequency in youth aged 13-24 diagnosed with HIV in 2005-2008. Diagnosis rates increased among black (17.0% per year), Hispanic (13.5%), and white males (8.8%), with increases driven by men who have sex with men (MSM). A higher percentage of white males and MSM had previously been tested than their counterparts. No increases in diagnoses or differences in testing were observed among females. Intensified interventions are needed to reduce HIV infections and racial/ethnic disparities.

Familial Mediterranean Fever

Directory of Open Access Journals (Sweden)

Adem Kucuk

2014-01-01

Full Text Available Familial Mediterranean Fever is an autosomal recessive inherited disease with a course of autoinflammation, which is characterized by the episodes of fever and serositis. It affects the populations from Mediterranean basin. Genetic mutation of the disease is on MEFV gene located on short arm of Chromosome 16. The disease is diagnosed based on clinical evaluation. Amyloidosis is the most important complication. The only agent that decreases the development of amyloidosis and the frequency and severity of the episodes is colchicine, which has been used for about 40 years. In this review, we aimed to discuss especially the most recent advances about Familial Mediterranean Fever which is commonly seen in our population.

[Parathyroid cancer in a patient with previous history of hypernephroma: a clinical case].

Science.gov (United States)

Martín Navarro, J; Mendoza, E; Mateos, P; Cereceda, A; Coca, S

2007-01-01

We report the clinical case of a 55 year-old male patient, with a previous history of nephrectomy by hypernephroma sixteen years ago, first presenting hypercalcemia and rising of intact parathyroid hormone (iPTH) levels. A localization study revealed an intrathyroid nodule with cystic appearance. After undergoing a hemi-thyroidectomy, the patient is diagnosed with parathyroid carcinoma. This article analyzes previously published cases presenting parathyroidal pathologies associated with hypernephroma. A broader differential diagnosis--including the screening of parathyroidal pathologies should be considered in patients with hypercalcemia and hypernephroma.

Familial melanoma by histology and age: joint data from five Nordic countries.

Science.gov (United States)

Fallah, Mahdi; Pukkala, Eero; Sundquist, Kristina; Tretli, Steinar; Olsen, Jörgen H; Tryggvadottir, Laufey; Hemminki, Kari

2014-04-01

We aimed to estimate lifetime cumulative risk of melanoma (CRM) in relatives of patients with melanoma by histology and age at diagnosis in patients and relatives. A population-based cohort of 238724 first-degree relatives of 46091 melanoma patients diagnosed in 1955-2010 in Nordic countries was followed for cancer incidence. The CRM (0-79 years) in first-degree relatives of a patient with superficial spreading (SSM), nodular (NM), or lentigo maligna melanoma was quite similar, ranging from 2.5% to about 3%, which represents about 2-fold increase over the general population risk. When one melanoma patient in the family was diagnosed before age 30, the CRM was about 3%. When there were > or =2 melanoma patients diagnosed before age 30 in a family, CRM for relatives was about 14%, 6% for diagnoses at age 30-59, and 5% for diagnoses at age 60 or older. Depending on age at diagnosis of same-sex twins (not known whether monozygotic/dizygotic), their CRM was about 7-21%. Although no familial case of concordant histological types of acral lentiginous/desmoplastic/compound nevus/spindle cell melanomas or malignant blue nevus was found, familial risks of discordant histological types of melanoma were interchangeably high for most of the types, e.g. higher risk of SSM when a first-degree relative had NM [standardized incidence ratios (SIR)=2.6, 95% confidence interval (CI)=2.1-3.3, n=72] or acral lentiginous (4.0, 95% CI=1.5-8.8, n=6) and vice versa. There was a tendency toward concordant age at diagnosis of melanoma among relatives of melanoma patients. Findings of this study may help clinicians to find subjects at high melanoma risk for the genetic counseling. The risk was highest when melanoma occurred in a same-sex twin, one first-degree relative diagnosed at young age ( or =2 first-degree relatives. Histological type of melanoma does not seem to play an important role in familial melanoma. This work was supported by the Nordic Cancer Union, Swedish Council for Working

A Retrospective Study of Clinical and Mutational Findings in 45 Danish Families with Ectodermal Dysplasia

DEFF Research Database (Denmark)

Svendsen, Mathias Tiedemann; Henningsen, Emil; Hertz, Jens Michael

2014-01-01

covering 17 different diagnoses. Forty-five families were identified of which 26 were sporadic cases with no affected family members. In 27 tested families a disease-causing mutation was identified in 23 families. Eleven mutations were novel mutations. To our knowledge, we present the first large...

Defining Crisis in Families of Individuals with Autism Spectrum Disorders

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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…

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...

Identification of a previously undescribed divergent virus from the Flaviviridae family in an outbreak of equine serum hepatitis.

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Chandriani, Sanjay; Skewes-Cox, Peter; Zhong, Weidong; Ganem, Donald E; Divers, Thomas J; Van Blaricum, Anita J; Tennant, Bud C; Kistler, Amy L

2013-04-09

Theiler's disease is an acute hepatitis in horses that is associated with the administration of equine blood products; its etiologic agent has remained unknown for nearly a century. Here, we used massively parallel sequencing to explore samples from a recent Theiler's disease outbreak. Metatranscriptomic analysis of the short sequence reads identified a 10.5-kb sequence from a previously undescribed virus of the Flaviviridae family, which we designate "Theiler's disease-associated virus" (TDAV). Phylogenetic analysis clusters TDAV with GB viruses of the recently proposed Pegivirus genus, although it shares only 35.3% amino acid identity with its closest relative, GB virus D. An epidemiological survey of additional horses from three separate locations supports an association between TDAV infection and acute serum hepatitis. Experimental inoculation of horses with TDAV-positive plasma provides evidence that several weeks of viremia preceded liver injury and that liver disease may not be directly related to the level of viremia. Like hepatitis C virus, the best characterized Flaviviridae species known to cause hepatitis, we find TDAV is capable of efficient parenteral transmission, engendering acute and chronic infections associated with a diversity of clinical presentations ranging from subclinical infection to clinical hepatitis.

Psychometric Properties of the Beach Center Family Quality of Life in French-Speaking Families with a Preschool-Aged Child Diagnosed with Autism Spectrum Disorder

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Rivard, Mélina; Mercier, Céline; Mestari, Zakaria; Terroux, Amélie; Mello, Catherine; Bégin, Jean

2017-01-01

The Beach Center Family Quality of Life Scale (Beach Center FQOL) is used to evaluate and develop family-centered intervention services. However, its use with families of children with autism spectrum disorder (ASD) and in non-English speaking populations requires further investigation. The present study sought to assess the psychometric…

Familial occurrence of inflammatory bowel disease

DEFF Research Database (Denmark)

Orholm, M; Munkholm, P; Langholz, E

1991-01-01

BACKGROUND AND METHODS: We assessed the familial occurrence of inflammatory bowel disease in Copenhagen County, where there has been a long-term interest in the epidemiology of such disorders. In 1987 we interviewed 662 patients in whom inflammatory bowel disease had been diagnosed before 1979, a...

Cultivating Resilience in Families Who Foster: Understanding How Families Cope and Adapt Over Time.

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Lietz, Cynthia A; Julien-Chinn, Francie J; Geiger, Jennifer M; Hayes Piel, Megan

2016-12-01

Families who foster offer essential care for children and youth when their own parents are unable to provide for their safety and well-being. Foster caregivers face many challenges including increased workload, emotional distress, and the difficulties associated with health and mental health problems that are more common in children in foster care. Despite these stressors, many families are able to sustain fostering while maintaining or enhancing functioning of their unit. This qualitative study applied an adaptational process model of family resilience that emerged in previous studies to examine narratives of persistent, long-term, and multiple fostering experiences. Data corroborated previous research in two ways. Family resilience was again described as a transactional process of coping and adaptation that evolves over time. This process was cultivated through the activation of 10 family strengths that are important in different ways, during varied phases. © 2016 Family Process Institute.

Delayed Diagnoses: Nonspecific Findings and Diagnostic Challenges in Eating Disorders

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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.

Family History of Cancer in Benign Brain Tumor Subtypes Versus Gliomas

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Ostrom, Quinn T. [Department of Anthropology, Case Western Reserve University, Cleveland, OH (United States); McCulloh, Christopher [Case Western Reserve University School of Medicine, Cleveland, OH (United States); Chen, Yanwen; Devine, Karen; Wolinsky, Yingli, E-mail: qto@case.edu [Case Comprehensive Cancer Center, Case Western Reserve University School of Medicine, Cleveland, OH (United States)

2012-02-28

Purpose: Family history is associated with gliomas, but this association has not been established for benign brain tumors. Using information from newly diagnosed primary brain tumor patients, we describe patterns of family cancer histories in patients with benign brain tumors and compare those to patients with gliomas. Methods: Newly diagnosed primary brain tumor patients were identified as part of the Ohio Brain Tumor Study. Each patient was asked to participate in a telephone interview about personal medical history, family history of cancer, and other exposures. Information was available from 33 acoustic neuroma (65%), 78 meningioma (65%), 49 pituitary adenoma (73.1%), and 152 glioma patients (58.2%). The association between family history of cancer and each subtype was compared with gliomas using unconditional logistic regression models generating odds ratios (ORs) and 95% confidence intervals. Results: There was no significant difference in family history of cancer between patients with glioma and benign subtypes. Conclusion: The results suggest that benign brain tumor may have an association with family history of cancer. More studies are warranted to disentangle the potential genetic and/or environmental causes for these diseases.

Family History of Cancer in Benign Brain Tumor Subtypes Versus Gliomas

International Nuclear Information System (INIS)

Ostrom, Quinn T.; McCulloh, Christopher; Chen, Yanwen; Devine, Karen; Wolinsky, Yingli

2012-01-01

Purpose: Family history is associated with gliomas, but this association has not been established for benign brain tumors. Using information from newly diagnosed primary brain tumor patients, we describe patterns of family cancer histories in patients with benign brain tumors and compare those to patients with gliomas. Methods: Newly diagnosed primary brain tumor patients were identified as part of the Ohio Brain Tumor Study. Each patient was asked to participate in a telephone interview about personal medical history, family history of cancer, and other exposures. Information was available from 33 acoustic neuroma (65%), 78 meningioma (65%), 49 pituitary adenoma (73.1%), and 152 glioma patients (58.2%). The association between family history of cancer and each subtype was compared with gliomas using unconditional logistic regression models generating odds ratios (ORs) and 95% confidence intervals. Results: There was no significant difference in family history of cancer between patients with glioma and benign subtypes. Conclusion: The results suggest that benign brain tumor may have an association with family history of cancer. More studies are warranted to disentangle the potential genetic and/or environmental causes for these diseases.

Family history of cancer in benign brain tumor subtypes versus gliomas

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Quinn eOstrom

2012-02-01

Full Text Available Purpose: Family history is associated with gliomas, but this association has not ben established for benign brain tumors. Using information from newly diagnosed primary brain tumor patients, we describe patterns of family cancer histories in patients with benign brain tumors and compare those to patients with gliomas. Methods: Newly diagnosed primary brain tumor patients were identified as part of the Ohio Brain Tumor Study (OBTS. Each patient was asked to participate in a telephone interview about personal medical history, family history of cancer, and other exposures. Information was available from 33 acoustic neuroma (65%, 78 meningioma (65%, 49 pituitary adenoma (73.1% and 152 glioma patients (58.2%. The association between family history of cancer and each subtype was compared with gliomas using unconditional logistic regression models generating odds ratios (ORs and 95% confidence intervals (95% CI. Results: There was no significant difference in family history of cancer between patients with glioma and benign subtypes. Conclusions: The results suggest that benign brain tumor may have an association with family history of cancer. More studies are warranted to disentangle the potential genetic and/or environmental causes for these diseases.

Diagnosing Tic Disorders

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... Submit" /> Information For… Media Policy Makers Diagnosing Tic Disorders Language: English (US) Español (Spanish) Recommend on ... or postviral encephalitis). Persistent (Chronic) Motor or Vocal Tic Disorder To be diagnosed with a persistent tic ...

Diagnosing lynch syndrome in absence of colorectal cancer.

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Lynch, Henry T; Knezetic, Joseph; Lanspa, Stephen

2012-11-01

There are many ways in which a diagnosis of Lynch syndrome can be made, most prominent of which is family history, presence of cancer, high microsatellite instability, immunohistochemistry, and a mismatch repair germline mutation. There are at least four molecular pathways for colorectal cancer carcinogenesis: 1) adenoma-carcinoma sequence; 2) hereditary microsatellite instability; 3) serrated pathway; 4) epidermal growth factor receptor. The answer to diagnosing Lynch syndrome in the absence of colorectal cancer may be partially based upon the phenotypic characteristics of the colonic polyps should they be identified at colonoscopy, specifically their phenotypic characteristics of location, size, histology, number, and age of polyp onset.

Top Information Need Priorities of Older Adults Newly Diagnosed With Active Myeloma.

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Tariman, Joseph D; Doorenbos, Ardith; Schepp, Karen G; Singhal, Seema; Berry, Donna L

2015-01-01

Prioritizing patients' information needs maximizes efficiency. This study examined the information sources and priorities in a sample of older adults newly diagnosed with symptomatic myeloma requiring immediate therapy. An association analysis of whether information needs were influenced by sociodemographic variables such as age, gender, education, marital status, and income was also conducted. The Information Needs Questionnaire (INQ) and an investigator-developed interview schedule were administered to 20 older adults diagnosed with symptomatic myeloma during a 30- to 45-minute semistructured interview. We found that older adults newly diagnosed with symptomatic myeloma have different priorities of information needs when compared with younger patients diagnosed with various types of cancer. The top three priorities related to treatment, prognosis, and self-care. Sociodemographic variables did not influence the priorities of information needs among older adults with symptomatic myeloma. The Internet, physicians, family, and friends were among the top sources of information. Advanced practitioners in oncology should support and identify interventions that can enhance patients' learning process from these sources. Well poised to assist patients in searching credible and reliable Internet sources, advanced practitioners in oncology can provide patient education about different treatments and the impact of such treatments on prognosis (e.g., overall survival and likelihood of cure).

The meaning and validation of social support networks for close family of persons with advanced cancer.

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Sjolander, Catarina; Ahlstrom, Gerd

2012-09-17

To strengthen the mental well-being of close family of persons newly diagnosed as having cancer, it is necessary to acquire a greater understanding of their experiences of social support networks, so as to better assess what resources are available to them from such networks and what professional measures are required. The main aim of the present study was to explore the meaning of these networks for close family of adult persons in the early stage of treatment for advanced lung or gastrointestinal cancer. An additional aim was to validate the study's empirical findings by means of the Finfgeld-Connett conceptual model for social support. The intention was to investigate whether these findings were in accordance with previous research in nursing. Seventeen family members with a relative who 8-14 weeks earlier had been diagnosed as having lung or gastrointestinal cancer were interviewed. The data were subjected to qualitative latent content analysis and validated by means of identifying antecedents and critical attributes. The meaning or main attribute of the social support network was expressed by the theme Confirmation through togetherness, based on six subthemes covering emotional and, to a lesser extent, instrumental support. Confirmation through togetherness derived principally from information, understanding, encouragement, involvement and spiritual community. Three subthemes were identified as the antecedents to social support: Need of support, Desire for a deeper relationship with relatives, Network to turn to. Social support involves reciprocal exchange of verbal and non-verbal information provided mainly by lay persons. The study provides knowledge of the antecedents and attributes of social support networks, particularly from the perspective of close family of adult persons with advanced lung or gastrointestinal cancer. There is a need for measurement instruments that could encourage nurses and other health-care professionals to focus on family members

Understanding Hong Kong Chinese Families' Experiences of an Autism/ASD Diagnosis

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Tait, Kathleen; Fung, Francis; Hu, Aihua; Sweller, Naomi; Wang, Wei

2016-01-01

Little is known about the experience of Chinese parents of children diagnosed with autism spectrum disorders (ASD) living in the Hong Kong Special Administrative Region. Seventy-five parents of children (aged 6 months-18 years) with ASD diagnoses completed the Family Quality of Life Scale. Forty-five parents from the original surveyed cohort, also…

Psychiatric family history and schizophrenia risk in Denmark: which mental disorders are relevant?

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Mortensen, P B; Pedersen, M G; Pedersen, C B

2010-02-01

A family history of schizophrenia is the strongest single indicator of individual schizophrenia risk. Bipolar affective disorder and schizo-affective disorders have been documented to occur more frequently in parents and siblings of schizophrenia patients, but the familial occurrence of the broader range of mental illnesses and their role as confounders have not been studied in large population-based samples. All people born in Denmark between 1955 and 1991 (1.74 million) were followed for the development of schizophrenia (9324 cases) during 28 million person-years at risk. Information of schizophrenia in cohort members and psychiatric history in parents and siblings was established through linkage with the Danish Psychiatric Central Register. Data were analysed using log-linear Poisson regression. Schizophrenia was, as expected, strongly associated with schizophrenia and related disorders among first-degree relatives. However, almost any other psychiatric disorder among first-degree relatives increased the individual's risk of schizophrenia. The population attributable risk associated with psychiatric family history in general was 27.1% whereas family histories including schizophrenia only accounted for 6.0%. The general psychiatric family history was a confounder of the association between schizophrenia and urbanization of place of birth. Clinically diagnosed schizophrenia is associated with a much broader range of mental disorders in first-degree relatives than previously reported. This may suggest risk haplotypes shared across many disorders and/or shared environmental factors clustering in families. Failure to take the broad range of psychiatric family history into account may bias results of all risk-factor studies of schizophrenia.

Peeling skin syndrome in eight cases of four different families from India and Bangladesh

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Nilendu Sarma

2012-01-01

Full Text Available Peeling skin syndrome (PSS is a rare recessively inherited ichthyosiform genodermatoses characterized by superficial skin peeling. This has 2 subtypes, acral (APSS; OMIM 609796 and generalized form (OMIM 270300. The later has been subdivided into type A (non-inflammatory and type B (inflammatory. Eight cases of peeling skin syndrome in 4 families were recorded over a period of 5 years. They were diagnosed clinically and confirmed histopathologically. Disease onset ranged from birth to childhood age (mean 5.25 ± 4.528 years and age at presentation ranged from 7-35 years (mean 23.25 ± 10.471 years. Males outnumbered females (M:F - 5:3. All had non-inflammatory generalized disease of type-A PSS variety, except one who had type-B PSS. Two Muslim families (1 st and 2 nd family, total 5 patients came from nearby country Bangladesh, and the 2 Hindu families were Indian. Higher severity over acral areas in generalized type, possible autosomal dominant pattern of inheritance and improvement with age as found in this series were new manifestations and possibly unreported previously. The disease was found to be poorly responsive to oral retinoids. Prevalence of the disease may be higher than expected. Importance of mutational analysis was also highlighted.

Peeling skin syndrome in eight cases of four different families from India and Bangladesh.

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Sarma, Nilendu; Boler, Anup Kumar; Bhanja, Dulal Chandra

2012-01-01

Peeling skin syndrome (PSS) is a rare recessively inherited ichthyosiform genodermatoses characterized by superficial skin peeling. This has 2 subtypes, acral (APSS; OMIM 609796) and generalized form (OMIM 270300). The later has been subdivided into type A (non-inflammatory) and type B (inflammatory). Eight cases of peeling skin syndrome in 4 families were recorded over a period of 5 years. They were diagnosed clinically and confirmed histopathologically. Disease onset ranged from birth to childhood age (mean 5.25 ± 4.528 years) and age at presentation ranged from 7-35 years (mean 23.25 ± 10.471 years). Males outnumbered females (M:F - 5:3). All had non-inflammatory generalized disease of type-A PSS variety, except one who had type-B PSS. Two Muslim families (1 st and 2 nd family, total 5 patients) came from nearby country Bangladesh, and the 2 Hindu families were Indian. Higher severity over acral areas in generalized type, possible autosomal dominant pattern of inheritance and improvement with age as found in this series were new manifestations and possibly unreported previously. The disease was found to be poorly responsive to oral retinoids. Prevalence of the disease may be higher than expected. Importance of mutational analysis was also highlighted.

[Prevalence of osteoporosis, estimation of probability of fracture and bone metabolism study in patients with newly diagnosed prostate cancer in the health area of Lugo].

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Miguel-Carrera, Jonatan; García-Porrua, Carlos; de Toro Santos, Francisco Javier; Picallo-Sánchez, Jose Antonio

2018-03-01

To study the prevalence of osteoporosis and fracture probability in patients diagnosed with prostate cancer. Observational descriptive transversal study. SITE: Study performed from Primary Care of Lugo in collaboration with Rheumatology and Urology Services of our referral hospital. Patients diagnosed with prostate cancer without bone metastatic disease from January to December 2012. Epidemiologic, clinical, laboratory and densitometric variables involved in osteoporosis were collected. The likelihood of fracture was estimated by FRAX ® Tool. Eighty-three patients met the inclusion criteria. None was excluded. The average age was 67 years. The Body Mass Index was 28.28. Twenty-five patients (30.1%) had previous osteoporotic fractures. Other prevalent risk factors were alcohol (26.5%) and smoking (22.9%). Eighty-two subjects had vitamin D below normal level (98.80%). Femoral Neck densitometry showed that 8.9% had osteoporosis and 54% osteopenia. The average fracture risk in this population, estimated by FRAX ® , was 2.63% for hip fracture and 5.28% for major fracture. Cut level for FRAX ® major fracture value without DXA >5% and ≥7.5% proposed by Azagra et al. showed 24 patients (28.92%) and 8 patients (9.64%) respectively. The prevalence of osteoporosis in this population was very high. The more frequent risk factors associated with osteoporosis were: previous osteoporotic fracture, alcohol consumption, smoking and family history of previous fracture. The probability of fracture using femoral neck FRAX ® tool was low. Vitamin D deficiency was very common (98.8%). Copyright © 2017 Elsevier España, S.L.U. All rights reserved.

Eucharitidae (Hymenoptera, Chalcidoidea, a family new to the fauna of Saudi Arabia, with the description of the previously unknown male of Eucharis (Psilogastrellus affinis Bouček

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Neveen S. Gadallah

2014-12-01

Full Text Available The family Eucharitidae (Hymenoptera: Chalcidoidea is recorded for the first time for the fauna of Saudi Arabia based on Hydrorhoa caffra (Westwood and Eucharis (Psilogastrellus affinis Bouček. The record of H. caffra suggests that Al-Baha and Asir provinces should be considered as part of the Afrotropical rather than the Palaearctic region. The previously unknown male of E. affinis Bouček is described and figured. Macrophotographs of the species are provided.

Identification of MSH2 inversion of exons 1-7 in clinical evaluation of families with suspected Lynch syndrome.

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Mork, Maureen E; Rodriguez, Andrea; Taggart, Melissa W; Rodriguez-Bigas, Miguel A; Lynch, Patrick M; Bannon, Sarah A; You, Y Nancy; Vilar, Eduardo

2017-07-01

Traditional germline sequencing and deletion/duplication analysis does not detect Lynch syndrome-causing mutations in all individuals whose colorectal or endometrial tumors demonstrate mismatch repair (MMR) deficiency. Unique inversions and other rearrangements of the MMR genes have been reported in families with Lynch syndrome. In 2014, a recurrent inversion of MSH2 exons 1-7 was identified in five families suspected to have Lynch syndrome. We aimed to describe our clinical experience in identifying families with this specific inversion. Four probands whose Lynch syndrome-associated tumors demonstrated absence of MSH2/MSH6 staining and who had negative MMR germline testing were evaluated for the MSH2 inversion of exons 1-7, offered during initial genetic workup or upon routine clinical follow-up. All four probands tested positive for the MSH2 inversion. Proband cancer diagnoses included colon and endometrial adenocarcinoma and sebaceous adenoma. A variety of Lynch syndrome-associated cancers were reported in the family histories, although only one family met Amsterdam II criteria. Thirteen at-risk relatives underwent predictive testing. MSH2 inversion of exons 1-7 was found in four probands previously suspected to have Lynch syndrome based on family history and tumor testing. This testing should be offered routinely to patients with tumors demonstrating loss of MSH2/MSH6 staining.

IDENTITY FORMATION AMONG PRIMARY SCHOOL-AGED CHILDREN IN DYSFUNCTIONAL FAMILIES

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V. G. Bulygina

2015-01-01

Full Text Available Primary school age is a stage of significant personal changes of a child, including the identity formation as a result of a major restructuring of the system of relations of the child within the family. Background: The aim is to study the influence of a dysfunctional family system on the identity formation of primary school-aged children. Methods: There were examined seven-year-old children, secondary school pupils from families with signs of dysfunctionality (n =42. To assess interfamilial relations there were used proprietary methodologies and standardized tests diagnosing a role structure of the family, emotional sphere of children, peculiarities of the child identification with family members, signs of the family dysfunctionality. Results: It is revealed that the process of identity formation in primary school-aged children in dysfunctional families is characterized by expressed difficulties in identifying himself with family members. In 33% of cases the low hierarchical position and the typical female role characteristics are ascribed to father. To the contrary, the male social role position in 47% of cases is attributed to mother. The ambivalence of the child’s self-relation and his relation to family members is revealed. Therewith, 38% of girls’ profiles coincide either with the set of characteristics of fathers, or equally with sets of characteristics of both parents. The negative emotional state is diagnosed in 62% of children. Conclusion: It is established that in dysfunctional families the interfamilial relations and role structure have specific features, negatively influencing on the child development and the formation of his personality.Key words: children, primary school age, dysfunctional family, identity formation.

Accessible Support for Family Caregivers of Seniors with Chronic Conditions: From Isolation to Inclusion

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Stewart, Miriam; Barnfather, Alison; Neufeld, Anne; Warren, Sharon; Letourneau, Nicole; Liu, Lili

2006-01-01

Accessible support programs can improve health outcomes for family caregivers of older relatives with a chronic condition. Over the course of 6 months, 27 experienced family caregivers provided weekly support via the telephone to 66 individuals, either new family caregivers of seniors recently diagnosed with stroke or newly vulnerable family…

Reduced risk of UC in families affected by appendicitis: a Danish national cohort study.

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Nyboe Andersen, Nynne; Gørtz, Sanne; Frisch, Morten; Jess, Tine

2017-08-01

The possible aetiological link between appendicitis and UC remains unclear. In order to investigate the hereditary component of the association, we studied the risk of UC in family members of individuals with appendicitis. A cohort of 7.1 million individuals was established by linkage of national registers in Denmark with data on kinship and diagnoses of appendicitis and UC. Poisson regression models were used to calculate first hospital contact rate ratios (RR) for UC with 95% CIs between individuals with or without relatives with a history of appendicitis. During 174 million person-years of follow-up between 1977 and 2011, a total of 190 004 cohort members developed appendicitis and 45 202 developed UC. Individuals having a first-degree relative with appendicitis before age 20 years had significantly reduced risk of UC (RR 0.90; 95% CI 0.86 to 0.95); this association was stronger in individuals with a family predisposition to UC (RR 0.66; 95% CI 0.51 to 0.83). Individuals with a first-degree relative diagnosed with appendicitis before age 20 years are at reduced risk of UC, particularly when there is a family predisposition to UC. Our findings question a previously hypothesised direct protective influence of appendicitis on inflammation of the large bowel. Rather, genetic or environmental factors linked to an increased risk of appendicitis while being protective against UC may explain the repeatedly reported reduced relative risk of UC in individuals with a history of appendicitis. 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/.

Low rates of depressed mood and depression diagnoses in a clinic review of children and adolescents with autistic disorder.

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Henry, Charles A; Nowinski, Lisa; Koesterer, Karmen; Ferrone, Christine; Spybrook, Jessaca; Bauman, Margaret

2014-09-01

The purpose of this study was to investigate the prevalence of depression diagnoses and related clinical data in an outpatient sample of youth with autistic disorder. Records of 123 psychiatrically referred children and adolescents with a Diagnostic and Statistical Manual of Mental Disorders, 4th ed., Text Revision (DSM-IV-TR) diagnosis of autistic disorder were examined. Mood disorder diagnoses and chief complaints along with family mood disorder history were the primary variables analyzed. Four subjects (3%) presented with depressed mood. Irritability complaints were frequent (n=78, 63%). Six subjects (5%) received a mood disorder diagnosis; all with mood disorder, not otherwise specified. No subjects received a depressive disorder diagnosis. Family history of mood disorders was common. Findings raise questions about the appropriate characterization and potential misdiagnoses of depression in youth with autistic disorder.

Family planning and family vision in mothers after diagnosis of a child with autism spectrum disorder.

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Navot, Noa; Jorgenson, Alicia Grattan; Vander Stoep, Ann; Toth, Karen; Webb, Sara Jane

2016-07-01

The diagnosis of a child with autism has short- and long-term impacts on family functioning. With early diagnosis, the diagnostic process is likely to co-occur with family planning decisions, yet little is known about how parents navigate this process. This study explores family planning decision making process among mothers of young children with autism spectrum disorder in the United States, by understanding the transformation in family vision before and after the diagnosis. A total of 22 mothers of first born children, diagnosed with autism between 2 and 4 years of age, were interviewed about family vision prior to and after their child's diagnosis. Grounded Theory method was used for data analysis. Findings indicated that coherence of early family vision, maternal cognitive flexibility, and maternal responses to diagnosis were highly influential in future family planning decisions. The decision to have additional children reflected a high level of adaptability built upon a solid internalized family model and a flexible approach to life. Decision to stop childrearing reflected a relatively less coherent family model and more rigid cognitive style followed by ongoing hardship managing life after the diagnosis. This report may be useful for health-care providers in enhancing therapeutic alliance and guiding family planning counseling. © The Author(s) 2015.

[Familial Mediterranean fever: not to be missed

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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

Family support programs and adolescent mental health: review of evidence

OpenAIRE

Laird, Robert; Kuhn,Emily

2014-01-01

Emily S Kuhn, Robert D Laird Department of Psychology, University of New Orleans, New Orleans, LA, USA Abstract: Family support programs aim to improve parent wellbeing and parenting as well as adolescent mental and behavioral health by addressing the needs of parents of adolescents experiencing or at risk for mental health problems. Family support programs can be part of the treatment for adolescents diagnosed with mental or behavioral health problems, or family support programs can be deli...

Defining crisis in families of individuals with autism spectrum disorders

OpenAIRE

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 serve as a guide in delivering service to at-risk families. This study investigated the subjective experience of crisis in 155 mothers of children di...

Comorbid Depressive Disorders in Anxiety-Disordered Youth: Demographic, Clinical, and Family Characteristics

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O'Neil, Kelly A.; Podell, Jennifer L.; Benjamin, Courtney L.; Kendall, Philip C.

2010-01-01

Research indicates that depression and anxiety are highly comorbid in youth. Little is known, however, about the clinical and family characteristics of youth with principal anxiety disorders and comorbid depressive diagnoses. The present study examined the demographic, clinical, and family characteristics of 200 anxiety-disordered children and…

The challenge of identifying family medicine patients with obstructive sleep apnea: addressing the question of gender inequality.

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Bailes, Sally; Fichten, Catherine S; Rizzo, Dorrie; Baltzan, Marc; Grad, Roland; Pavilanis, Alan; Creti, Laura; Amsel, Rhonda; Libman, Eva

2017-08-01

The purpose of this study was to examine the sleep characteristics, metabolic syndrome disease and likelihood of obstructive sleep apnea in a sample of older, family medicine patients previously unsuspected for sleep apnea. A total of 295 participants, minimum age 45, 58.7% women, were recruited from two family medicine clinics. None previously had been referred for sleep apnea testing. All participants completed a sleep symptom questionnaire and were offered an overnight polysomnography study, regardless of questionnaire results. 171 followed through with the sleep laboratory component of the study. Health data regarding metabolic syndrome disease (hypertension, hyperlipidemia, diabetes and obesity) were gathered by chart review. Overall, more women than men enrolled in the study and pursued laboratory testing. Of those who underwent polysomnography testing, 75% of the women and 85% of the men were diagnosed with sleep apnea based on an apnea/hypopnea index of 10 or greater. Women and men had similar polysomnography indices, the majority being in the moderate to severe ranges. In those with OSA diagnosis, gender differences in sleep symptom severity were not significant. We conclude that greater gender equality in sleep apnea rates can be achieved in family practice if sleep apnea assessments are widely offered to older patients. © The Author 2017. Published by Oxford University Press. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

Clinical experience in the screening and management of a large kindred with familial isolated pituitary adenoma due to an aryl hydrocarbon receptor interacting protein (AIP) mutation.

Science.gov (United States)

Williams, Fred; Hunter, Steven; Bradley, Lisa; Chahal, Harvinder S; Storr, Helen L; Akker, Scott A; Kumar, Ajith V; Orme, Stephen M; Evanson, Jane; Abid, Noina; Morrison, Patrick J; Korbonits, Márta; Atkinson, A Brew

2014-04-01

Germline AIP mutations usually cause young-onset acromegaly with low penetrance in a subset of familial isolated pituitary adenoma families. We describe our experience with a large family with R304* AIP mutation and discuss some of the diagnostic dilemmas and management issues. The aim of the study was to identify and screen mutation carriers in the family. Forty-three family members participated in the study. The study was performed in university hospitals. We conducted genetic and endocrine screening of family members. We identified 18 carriers of the R304* mutation, three family members with an AIP-variant A299V, and two family members who harbored both changes. One of the two index cases presented with gigantism and pituitary apoplexy, the other presented with young-onset acromegaly, and both had surgery and radiotherapy. After genetic and clinical screening of the family, two R304* carriers were diagnosed with acromegaly. They underwent transsphenoidal surgery after a short period of somatostatin analog treatment. One of these two patients is in remission; the other achieved successful pregnancy despite suboptimal control of acromegaly. One of the A299V carrier family members was previously diagnosed with a microprolactinoma; we consider this case to be a phenocopy. Height of the unaffected R304* carrier family members is not different compared to noncarrier relatives. Families with AIP mutations present particular problems such as the occurrence of large invasive tumors, poor response to medical treatment, difficulties with fertility and management of pregnancy, and the finding of AIP sequence variants of unknown significance. Because disease mostly develops at a younger age and penetrance is low, the timing and duration of the follow-up of carriers without overt disease requires further study. The psychological and financial impact of prolonged clinical screening must be considered. Excellent relationships between the family, endocrinologists, and

Afghanistan and Iraq War Veterans: Mental Health Diagnoses are Associated with Respiratory Disease Diagnoses.

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Slatore, Christopher G; Falvo, Michael J; Nugent, Shannon; Carlson, Kathleen

2018-05-01

Many veterans of the wars in Afghanistan and Iraq have concomitant respiratory conditions and mental health conditions. We wanted to evaluate the association of mental health diagnoses with respiratory disease diagnoses among post-deployment veterans. We conducted a retrospective cohort study of all Afghanistan and Iraq War veterans who were discharged from the military or otherwise became eligible to receive Veterans Health Administration services. The primary exposure was receipt of a mental health diagnosis and the primary outcome was receipt of a respiratory diagnosis as recorded in the electronic health record. We used multivariable adjusted logistic regression to measure the associations of mental health diagnoses with respiratory diagnoses and conducted several analyses exploring the timing of the diagnoses. Among 182,338 post-deployment veterans, 14% were diagnosed with a respiratory condition, 77% of whom had a concomitant mental health diagnosis. The incidence rates were 5,363/100,000 person-years (p-y), 587/100,000 p-y, 1,450/100,000 p-y, and 233/100,000 p-y for any respiratory disease diagnosis, bronchitis, asthma, and chronic obstructive lung disease diagnoses, respectively, after the date of first Veterans Health Administration utilization. Any mental health diagnosis was associated with increased odds for any respiratory diagnosis (adjusted odds ratio 1.41, 95% confidence interval 1.37-1.46). The association of mental health diagnoses and subsequent respiratory disease diagnoses was stronger and more consistent than the converse. Many Afghanistan and Iraq War veterans are diagnosed with both respiratory and mental illnesses. Comprehensive plans that include care coordination with mental health professionals and treatments for mental illnesses may be important for many veterans with respiratory diseases.

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

International Nuclear Information System (INIS)

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

2013-01-01

The structure of ErpC, a member of the complement regulator-acquiring surface protein family from B. burgdorferi, has been solved, providing insights into the strategies of complement evasion by this zoonotic bacterium and suggesting a common architecture for other members of this protein family. 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

Psychiatry training in canadian family medicine residency programs.

Science.gov (United States)

Kates, N; Toews, J; Leichner, P

1985-01-01

Family physicians may spend up to 50% of their time diagnosing and managing mental disorders and emotional problems, but this is not always reflected in the training they receive. This study of the teaching of psychiatry in the 16 family medicine residency programs in Canada showed that although the majority of program directors are reasonably satisfied with the current training, they see room for improvement-particularly in finding psychiatrists with a better understanding of family practice, in integrating the teaching to a greater degree with clinical work, thereby increasing its relevance, and in utilizing more suitable clinical settings.

Familial risk of inflammatory bowel disease

DEFF Research Database (Denmark)

Trier Møller, Frederik; Andersen, Vibeke; Jess, Tine

2014-01-01

of familial CD cases was 12,15 percent of total CD cases and familial UC accounted for and 8,84 percent of total UC cases from 2007-2011. Patterns of IBD risk in family members to IBD-affected individuals appear from Table 1. The risk of CD was 9-fold increased in 1. degree relatives to at least two...... in the entire population. Individuals receiving at least 2 diagnoses of IBD during the time period (n=45,780) were identified using the Danish National Registry of Patients. Risk of IBD in family members to individuals with IBD was assessed by Poisson regression analysis. Results: The overall proportion...... individuals with IBD, 7.8 -fold increased in 1. degree relatives to one family member with CD, and even 2.8-fold increased if the 1. degree relative had UC. The same pattern was observed for risk of UC. Second-degree relatives to patients with CD or UC were also at significantly increased risk not only...

Decision Profiles of Mexican-Descent Families.

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Baker, Georgianne

An exploratory study of decision-making in families of Mexican heritage was carried out in Phoenix, Arizona. A Normative model of decision rationality and measurement (Family Problem Instrument-FPI) was adapted from previous research. Tape-recorded data were provided by 27 families. Husbands and wives responded separately to family decision…

Revised age estimates of the Euphrosyne family

Science.gov (United States)

Carruba, Valerio; Masiero, Joseph R.; Cibulková, Helena; Aljbaae, Safwan; Espinoza Huaman, Mariela

2015-08-01

The Euphrosyne family, a high inclination asteroid family in the outer main belt, is considered one of the most peculiar groups of asteroids. It is characterized by the steepest size frequency distribution (SFD) among families in the main belt, and it is the only family crossed near its center by the ν6 secular resonance. Previous studies have shown that the steep size frequency distribution may be the result of the dynamical evolution of the family.In this work we further explore the unique dynamical configuration of the Euphrosyne family by refining the previous age values, considering the effects of changes in shapes of the asteroids during YORP cycle (``stochastic YORP''), the long-term effect of close encounters of family members with (31) Euphrosyne itself, and the effect that changing key parameters of the Yarkovsky force (such as density and thermal conductivity) has on the estimate of the family age obtained using Monte Carlo methods. Numerical simulations accounting for the interaction with the local web of secular and mean-motion resonances allow us to refine previous estimates of the family age. The cratering event that formed the Euphrosyne family most likely occurred between 560 and 1160 Myr ago, and no earlier than 1400 Myr ago when we allow for larger uncertainties in the key parameters of the Yarkovsky force.

Conversion from bipolar disorder not otherwise specified (BP-NOS) to bipolar I or II in youth with family history as a predictor of conversion.

Science.gov (United States)

Martinez, Molly S; Fristad, Mary A

2013-06-01

Bipolar disorder-not otherwise specified (BD-NOS) is an imprecise, heterogeneous diagnosis that is unstable in youth. This study reports rates of conversion from BD-NOS to BD-I or II in children aged 8-12, and investigates the impact of family history of bipolar disorder and depression on conversion. As part of the Multi-Family Psychoeducational Psychotherapy (MF-PEP) study, 27 children (6-12 years of age) diagnosed with BD-NOS at baseline were reassessed every 6 months over an 18-month period. Family history of bipolar disorder and depression was assessed at baseline. One-third of the sample converted from BD-NOS to BD-I or II over 18-months. Having a first-degree relative with symptoms of bipolar disorder and having a loaded pedigree for diagnosis of depression each were associated with conversion from BD-NOS to BD-I or II (odds ratio range: 1.09-3.14; relative risk range: 1.06-2.34). This study had very low power (range: 10-45) given the small sample size, precluding statistical significance of non-parametric Fisher's Exact test findings. This study replicates the previous finding of a high rate of conversion from BD-NOS to BD-I or II among youth, and suggests conversion is related to symptoms of bipolar disorder or depression diagnoses in the family history. Additional research is warranted in a larger sample with a longer follow-up period. Copyright © 2012 Elsevier B.V. All rights reserved.

Bullying Victimization and Perpetration and Their Correlates in Adolescents Clinically Diagnosed With ADHD.

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Chou, Wen-Jiun; Liu, Tai-Ling; Yang, Pinchen; Yen, Cheng-Fang; Hu, Huei-Fan

2018-01-01

To examine the prevalence rates of bullying involvement and their correlates in adolescents diagnosed with ADHD in Taiwan. Bullying involvement, family and ADHD characteristics, the levels of behavioral inhibition system (BIS) and behavioral approach system (BAS), and psychiatric comorbidity were assessed in 287 adolescents with ADHD. The multiple regression analysis was used to examine the correlate of bullying victimization and perpetration. The prevalence rates of the pure victims, pure perpetrators, and victim-perpetrators were 14.6%, 8.4%, and 5.6%, respectively. Young age, a high BIS score, autism spectrum disorders, and low satisfaction with family relationships were associated with severe bullying victimization. A high score of fun seeking on the BAS and low satisfaction with family relationships were associated with severe bullying perpetration. A high proportion of adolescents with ADHD are involved in bullying. Multiple factors are associated with bullying involvement in adolescents with ADHD.

Predictors of parent-child agreement on child anxiety diagnoses on the ADIS-IV-C/P.

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Hamblin, Rebecca J; Salloum, Alison; Andel, Ross; Nadeau, Joshua M; McBride, Nicole M; Lewin, Adam B; Storch, Eric A

2016-11-30

Diagnostic agreement between parents' and children's reports on children's anxiety problems is notoriously poor; however, very few investigations have examined specific predictors of inter-rater agreement on child anxiety diagnoses. This study examined predictors of categories of parent and child diagnostic endorsement on the Anxiety Disorders Interview Schedule for Children-IV. One hundred eight children (ages 7-13) and their parents completed structured diagnostic interviews for non-OCD/PTSD anxiety diagnoses and paper and pencil measures of functioning and impairment in a variety of domains. Parent-child agreement was statistically significant for social phobia and separation anxiety disorder, but was overall poor for all anxiety diagnoses. Externalizing disorder status, family accommodation frequency, and child rated impairment in various domains differentially predicted informant discrepancies for different anxiety disorders. These data are among the first to suggest variables that may explain parent-child concordance. Copyright © 2016. Published by Elsevier Ireland Ltd.

How adolescents with anorexia nervosa and their parents perceive family functioning?

Science.gov (United States)

Laghi, Fiorenzo; Pompili, Sara; Zanna, Valeria; Castiglioni, Maria Chiara; Criscuolo, Michela; Chianello, Ilenia; Mazzoni, Silvia; Baiocco, Roberto

2017-02-01

This study aims at examining whether adolescent girls diagnosed with anorexia nervosa and their parents differ in perceiving the different aspects of family functioning. Moreover, the discrepancy between adolescent girls and healthy controls on Family Adaptability and Cohesion Evaluation Scales dimensions, family communication, and family satisfaction is investigated. The study includes 36 female anorexia patients and their parents and 36 healthy controls. The results showed a different view between mothers and their daughters with regard to the dimension of rigidity. In addition, girls with anorexia nervosa were less satisfied about family environment and rated their families as less communicative, flexible, cohesive, and more disengaged, compared to controls.

Early severe scoliosis in a patient with atypical progressive pseudorheumatoid dysplasia (PPD): Identification of two WISP3 mutations, one previously unreported.

Science.gov (United States)

Montané, Lucia Sentchordi; Marín, Oliver R; Rivera-Pedroza, Carlos I; Vallespín, Elena; Del Pozo, Ángela; Heath, Karen E

2016-06-01

Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive disorder characterized by spondyloepiphyseal dysplasia associated with pain and stiffness of multiple joints, enlargement of the interphalangeal joints, normal inflammatory parameters, and absence of extra-skeletal manifestations. Homozygous or compound heterozygous WISP3 mutations cause PPD. We report two siblings from a non-consanguineous Ecuadorian family with a late-onset spondyloepiphyseal dysplasia. Mutation screening was undertaken in the two affected siblings using a customized skeletal dysplasia next generation sequencing (NGS) panel and confirmed by Sanger sequencing. Two compound heterozygous mutations were identified in WISP3 exon 2, c.[190G>A];[197G>A] (p.[(Gly64Arg)];[(Ser66Asn)]) in the two siblings, both of which had been inherited. The p. (Gly64Arg) mutation has not been previously described whilst the p. (Ser66Asn) mutation has been reported in two PPD families. The two siblings presented with atypical PPD, as they presented during late childhood, yet the severity was different between them. The progression was particularly aggressive in the male sibling who suffered severe scoliosis by the age of 13 years. This case reaffirms the clinical heterogeneity of this disorder and the clinical utility of NGS to genetically diagnose skeletal dysplasias, enabling adequate management, monitorization, and genetic counseling. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

Impact of breast cancer family history on tumor detection and tumor size in women newly-diagnosed with invasive breast cancer.

Science.gov (United States)

Schwab, Fabienne Dominique; Bürki, Nicole; Huang, Dorothy Jane; Heinzelmann-Schwarz, Viola; Schmid, Seraina Margaretha; Vetter, Marcus; Schötzau, Andreas; Güth, Uwe

2014-03-01

This study evaluated the impact of family history (FH) on tumor detection, the patient's age and tumor size at diagnosis in breast cancer (BC). Furthermore, we investigated whether the impact of FH on these features was dependent on degree of relationship, number of relatives with a BC history, or the age of the affected relative at the time that her BC was diagnosed. Out of the entire cohort (n = 1,037), 244 patients (23.5%) had a positive FH; 159 (15.3%) had first-degree relatives affected with BC and 85 patients (8.2%) had second-degree affected relatives. Compared to women who had no BC-affected relatives, the tumors of women who had positive FH were more often found by radiological breast examination (RBE: 31.7%/27.2%, p = 0.008), and they were smaller (general tumor size: 21.8 mm/26.4 mm, p = 0.003; size of tumors found by breast self-examination (BSE): 26.1 mm/30.6 mm, p = 0.041). However, this positive effect of increased use of BC screening and smaller tumor sizes was only observed in patients whose first-degree relatives were affected (comparison with second-degree affected relatives: RBE: 43.8%/24.7%; odds ratio 2.38, p = 0.007; general tumor size: 19.3 mm/26.3 mm; mean difference (MD) -6.9, p = 0.025; tumor size found by BSE: 22.5 mm/31.0 mm; MD -8.5, p = 0.044). When more second-degree relatives or older relatives were diagnosed with BC, the tumors of these patients were similarly often detected by RBE (relationship: 24.7%/27.2%, p = 0.641; age: 33.7 %/27.2 %, p = 0.177) and had similar tumor sizes (general size: 26.3 mm/26.4 mm, p = 0.960; BSE: 31.0 mm/30.6 mm, p = 0.902) as those of women without a FH. Women with a positive FH generally use mammography screening more often and perceive changes in the breast earlier than women without such history. The increased awareness of BC risk decreases if the relationship is more distant.

Under-diagnosis of alcohol-related problems and depression in a family practice in Japan

Directory of Open Access Journals (Sweden)

Yamada Kenshi

2008-09-01

Full Text Available Abstract Aim The aim of this survey was to assess the accuracy of a family physician's diagnosis of depression and alcoholism. Methods Consecutive new adult patients attending a family practice in Japan between April 2004 and August 2006 were enrolled. Excluded were those with dementia or visual disturbance, and emergency cases. Participants completed a questionnaire regarding their complaints and socio-demographics. A research nurse conducted the Japanese version of the Mini-International Neuropsychiatric Interview (J-MINI in the interview room. The doctor independently performed usual practice and recorded his own clinical diagnoses. A researcher listed the clinical diagnoses and complaints, including J-MINI or clinically-diagnosed alcoholism and depression, using the International Classifications for Primary Care, Second Edition (ICPC-2 and calculated kappa statistics between the J-MINI and clinical diagnoses. Results Of the 120 adult first-visit patients attending the clinics, 112 patients consented to participate in the survey and were enrolled. Fifty-one subjects were male and 61 female, and the average age was 40.7 ± 13.2 years. Eight alcohol-related disorders and five major depressions were diagnosed using the J-MINI, whereas no cases of alcoholism and eight depressions were diagnosed by the physician. Clinically overlooked patients tended to have acute illnesses like a common cold. Concordance between the clinical and research diagnosis was achieved only for three episodes of Major depression, resulting in a kappa statistic of 0.43. Conclusion Although almost half of the major depressions were identified, all alcoholism was missed. A mental health screening instrument might be beneficial in family practice, especially to detect alcoholism.

A case report: Familial glucocorticoid deficiency associated with familial focal segmental glomerulosclerosis

Directory of Open Access Journals (Sweden)

Ram Nanik

2012-12-01

Full Text Available Abstract Background Familial glucocorticoid deficiency (FGD is a rare autosomal recessive disorder characterized by isolated glucocorticoid deficiency in the presence of normal plasma renin and aldosterone level. Focal segmental glomerulosclerosis (FSGS is a form of glomerular disease associated with proteinuria and nephritic syndrome. This is the first case of familial glucocorticoid deficiency associated with familial focal segmental glomerulosclerosis. Case presentation An eight month old boy presented with increased genital pigmentation. Initial investigation revealed that he was glucocorticoid deficient and was started on hydrocortisone and fludrocortisone with a diagnosis of primary adrenal insufficiency. Later fludrocortisone was withdrawn and he was diagnosed to have isolated glucocorticoid deficiency. He later developed focal segmental glomerulosclerosis for which he underwent renal transplantation at the age of five years. Now at the age of twelve years, this boy is doing well on hydrocortisone treatment. His two siblings and a first degree cousin also had isolated glucocorticoid deficiency. One of the above two siblings died due to renal failure secondary to focal segmental glomerulosclerosis. Conclusion Patients with familial glucocorticoid deficiency should be carefully followed for development of features of nephrotic syndrome.

Survey of familial glaucoma shows a high incidence of cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in non-consanguineous congenital forms in a Spanish population

Science.gov (United States)

Millá, Elena; Mañé, Begoña; Duch, Susana; Hernan, Imma; Borràs, Emma; Planas, Ester; Dias, Miguel de Sousa; Carballo, Miguel

2013-01-01

Purpose To identify myocilin (MYOC) and cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1) mutations in a Spanish population with different clinical forms of familial glaucoma or ocular hypertension (OHT). Methods Index patients from 226 families participated in this study. Patients were diagnosed with familial glaucoma or OHT by complete ophthalmologic examination. Screening for MYOC mutations was performed in 207 index patients: 96 with adult-onset primary open-angle glaucoma (POAG), 21 with primary congenital glaucoma (PCG), 18 with juvenile-onset open-angle glaucoma (JOAG), five with Axenfeld-Rieger syndrome (ARS), and 67 with other types of glaucoma. One hundred two of the families (including all those in whom a MYOC mutation was detected) were also screened for CYP1B1 mutations: 45 POAG, 25 PCG, 21 JOAG, four ARS, and seven others. Results We examined 292 individuals (patients and relatives) with a positive family history of glaucoma or OHT. We identified two novel MYOC variants, p.Lys39Arg and p.Glu218Lys, in two families with POAG, and six previously reported MYOC mutations in seven families with POAG (four), JOAG (one), PCG (one), and normotensive glaucoma (one). CYP1B1 mutations were found in 16 index patients with PCG (nine), POAG (three), JOAG (two), and ARS (two). Conclusions The high percentage (9/25=36%) of mutations in CYP1B1 found in non-consanguineous patients with congenital glaucoma mandates genetic testing. However, the percentage of mutations (9/207=4.4%) in MYOC associated with glaucoma is relatively low in our population. The variable phenotype expression of glaucoma, even in families, cannot be explained with a digenic mechanism between MYOC and CYP1B1. PMID:23922489

Neuroblastoma in Children: Just Diagnosed Information

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... Financial Reports Watchdog Ratings Feedback Contact Select Page Neuroblastoma in Children – Just Diagnosed Home > Cancer Resources > Types ... Diagnosed Just Diagnosed In Treatment After Treatment Diagnosing Neuroblastoma Depending on the location of the tumor and ...

The familial risk of autism.

Science.gov (United States)

Sandin, Sven; Lichtenstein, Paul; Kuja-Halkola, Ralf; Larsson, Henrik; Hultman, Christina M; Reichenberg, Abraham

2014-05-07

Autism spectrum disorder (ASD) aggregates in families, but the individual risk and to what extent this is caused by genetic factors or shared or nonshared environmental factors remains unresolved. To provide estimates of familial aggregation and heritability of ASD. A population-based cohort including 2,049,973 Swedish children born 1982 through 2006. We identified 37,570 twin pairs, 2,642,064 full sibling pairs, 432,281 maternal and 445,531 paternal half sibling pairs, and 5,799,875 cousin pairs. Diagnoses of ASD to December 31, 2009 were ascertained. The relative recurrence risk (RRR) measures familial aggregation of disease. The RRR is the relative risk of autism in a participant with a sibling or cousin who has the diagnosis (exposed) compared with the risk in a participant with no diagnosed family member (unexposed). We calculated RRR for both ASD and autistic disorder adjusting for age, birth year, sex, parental psychiatric history, and parental age. We estimated how much of the probability of developing ASD can be related to genetic (additive and dominant) and environmental (shared and nonshared) factors. In the sample, 14,516 children were diagnosed with ASD, of whom 5689 had autistic disorder. The RRR and rate per 100,000 person-years for ASD among monozygotic twins was estimated to be 153.0 (95% CI, 56.7-412.8; rate, 6274 for exposed vs 27 for unexposed ); for dizygotic twins, 8.2 (95% CI, 3.7-18.1; rate, 805 for exposed vs 55 for unexposed); for full siblings, 10.3 (95% CI, 9.4-11.3; rate, 829 for exposed vs 49 for unexposed); for maternal half siblings, 3.3 (95% CI, 2.6-4.2; rate, 492 for exposed vs 94 for unexposed); for paternal half siblings, 2.9 (95% CI, 2.2-3.7; rate, 371 for exposed vs 85 for unexposed); and for cousins, 2.0 (95% CI, 1.8-2.2; rate, 155 for exposed vs 49 for unexposed). The RRR pattern was similar for autistic disorder but of slightly higher magnitude.We found support for a disease etiology including only additive genetic and

Maladaptive schemas as mediators of the relationship between previous victimizations in the family and dating violence victimization in adolescents.

Science.gov (United States)

Calvete, Esther; Gámez-Guadix, Manuel; Fernández-Gonzalez, Liria; Orue, Izaskun; Borrajo, Erika

2018-07-01

This study examined whether exposure to family violence, both in the form of direct victimization and witnessing violence, predicted dating violence victimization in adolescents through maladaptive schemas. A sample of 933 adolescents (445 boys and 488 girls), aged between 13 and 18 (M = 15.10), participated in a three-year longitudinal study. They completed measures of exposure to family violence, maladaptive schemas of disconnection/rejection, and dating violence victimization. The findings indicate that witnessing family violence predicts the increase of dating violence victimization over time, through the mediation of maladaptive schemas in girls, but not in boys. Direct victimization in the family predicts dating violence victimization directly, without the mediation of schemas. In addition, maladaptive schemas contribute to the perpetuation of dating violence victimization over time. These findings provide new opportunities for preventive interventions, as maladaptive schemas can be modified. Copyright © 2018 Elsevier Ltd. All rights reserved.

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

NARCIS (Netherlands)

Avis, Hans J.; Hutten, Barbara A.; Twickler, Marcel Th B.; Kastelein, John J. P.; van der Post, Joris A. M.; Stalenhoef, Anton F.; Vissers, Maud 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 existence

Family Drawings before and after Treatment for Child Conduct Problems: Fluidity of Family Dysfunction

OpenAIRE

Kloft, Lilian; Hawes, David; Moul, Caroline; Sultan, Sonia; Dadds, Mark

2017-01-01

Children’s drawings have previously been found to reflect their representations of family relationships. The present study examined whether evidence-based parent training for child conduct problems impacts on representations of family functioning using the Family Drawing Paradigm (FDP). N = 53 clinic-referred children (aged 3–15) with conduct problems and their families were assessed pre-treatment and at 6-month follow-up on a modified version of the FDP. Analyses of changes in the FDP reveal...

Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR.

Science.gov (United States)

Riveiro-Alvarez, Rosa; Trujillo-Tiebas, Maria José; Gimenez-Pardo, Ascension; Garcia-Hoyos, Maria; Cantalapiedra, Diego; Lorda-Sanchez, Isabel; Rodriguez de Alba, Marta; Ramos, Carmen; Ayuso, Carmen

2005-09-02

Norrie disease (OMIM 310600) is a rare X-linked disorder characterized by congenital blindness in males. Approximately 40 to 50% of the cases develop deafness and mental retardation. X-linked familial exudative vitreoretinopathy (XL-FEVR) is a hereditary ocular disorder characterized by a failure of peripheral retinal vascularization. Both X-linked disorders are due to mutations in the NDP gene, which encodes a 133 amino acid protein called Norrin, but autosomal recessive (AR) and autosomal dominant (AD) forms of FEVR have also been described. In this study, we report the molecular findings and the related phenotype in five Spanish families affected with Norrie disease or XL-FEVR due to mutations of the NDP gene. The study was conducted in 45 subjects from five Spanish families. These families were clinically diagnosed with Norrie disease or similar conditions. The three exons of the NDP gene were analyzed by automatic DNA sequencing. Haplotype analyses were also performed. Two new nonsense mutations, apart from other mutations previously described in the NDP gene, were found in those patients affected with ND or X-linked FEVR. An important genotype-phenotype variation was found in relation to the different mutations of the NDP gene. In fact, the same mutation may be responsible for different phenotypes. We speculate that there might be other molecular factors that interact in the retina with Norrin, which contribute to the resultant phenotypes.

Should we offer prenatal testing for 17q12 microdeletion syndrome to all cases with prenatally diagnosed echogenic kidneys? Prenatal findings in two families with 17q12 microdeletion syndrome and review of the literature.

Science.gov (United States)

Jones, Gabriela E; Mousa, Hatem A; Rowley, Helen; Houtman, Peter; Vasudevan, Pradeep C

2015-12-01

The objective of this study is to report the prenatal ultrasound scan findings in four fetuses from two families postnatally diagnosed with 17q12 microdeletion syndrome on microarray CGH and review the literature. We report two families presenting with prenatally detected hyperechogenic kidneys. In family 1, the mother had three pregnancies complicated by anhydramnios with bilateral hyperechogenic kidneys, hyperechogenic enlarged cystic kidneys, and bilateral hyperechogenic kidneys with polyhydramnios respectively. In family 2, prenatal ultrasound scans detected hyperechogenic kidneys. A pubmed search for all reported cases of 17q12 deletion between 2005 and 2015 was performed. All publications were reviewed, and findings summarised. Fourteen publications were deemed suitable for literature review; there was a diagnosis of 17q12 deletion with documented prenatal findings in 25 cases. Prenatal renal anomalies were reported in 88% of these cases. Anomalies were documented from 15 weeks, and most common presentation was hyperechogenic, muticystic, or enlarged kidneys. Both oligohydramnios and polyhydramnios were seen. Postnatal renal ultrasound scan findings were of muticystic or multicystic dysplastic kidney. There did not appear to be correlation of prenatal presentation and severity of renal disease. Prenatal testing should be offered to all cases of hyperechogenic kidneys, with unknown cause. © 2015 John Wiley & Sons, Ltd.

Fertility Preservation for Children Diagnosed with Cancer

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Full Text Available ... for Women Diagnosed with Cancer Fertility Preservation for Men Diagnosed with Cancer Fertility Preservation for Children Diagnosed ... for Women Diagnosed with Cancer Fertility Preservation for Men Diagnosed with Cancer Fertility Preservation for Children Diagnosed ...

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.

Familial Transient Global Amnesia

Directory of Open Access Journals (Sweden)

R.Rhys Davies

2012-12-01

Full Text Available Following an episode of typical transient global amnesia (TGA, a female patient reported similar clinical attacks in 2 maternal aunts. Prior reports of familial TGA are few, and no previous account of affected relatives more distant than siblings or parents was discovered in a literature survey. The aetiology of familial TGA is unknown. A pathophysiological mechanism akin to that in migraine attacks, comorbidity reported in a number of the examples of familial TGA, is one possibility. The study of familial TGA cases might facilitate the understanding of TGA aetiology.

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.

Effectiveness of a worksheet for diagnosing postmortem computed tomography in emergency departments

International Nuclear Information System (INIS)

Takahashi, Naoya; Higuchi, Takeshi; Shiotani, Motoi; Satou, Suguru; Hirose, Yasuo

2011-01-01

The aim of this study was to evaluate the effectiveness of a worksheet for diagnosing postmortem computed tomography (PMCT) in emergency departments (EDs). A total of 49 cases of clinically diagnosed nontraumatic deaths in the ED who underwent total body PMCT were enrolled. PMCT images were prospectively evaluated by four radiologists: two radiologists with 1.5 and 3.5 years of residency and two board-certified radiologists with >20 years of experience. Readers were independently instructed to detect and interpret findings with reference to fatal findings, postmortem features, changes caused by cardiopulmonary resuscitation, and other pathological findings according to a worksheet that was composed of the possible findings previously reported. Agreement on detection and interpretation of findings between each reader was measured using Cohen's kappa coefficients. For the detection of findings, there was substantial agreement among the four readers (kappa>0.60, P 0.60, P<0.0001) and near-substantial (kappa=0.60, P<0.0001) agreement in the interpretation of the finding. Results of our study suggest equivalency on diagnosing PMCT regardless of the reader's level of experience. We conclude that the worksheet is useful for diagnosing PMCT in emergency departments. (author)

Web-based phenotyping for Tourette Syndrome: Reliability of common co-morbid diagnoses.

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Darrow, Sabrina M; Illmann, Cornelia; Gauvin, Caitlin; Osiecki, Lisa; Egan, Crystelle A; Greenberg, Erica; Eckfield, Monika; Hirschtritt, Matthew E; Pauls, David L; Batterson, James R; Berlin, Cheston M; Malaty, Irene A; Woods, Douglas W; Scharf, Jeremiah M; Mathews, Carol A

2015-08-30

Collecting phenotypic data necessary for genetic analyses of neuropsychiatric disorders is time consuming and costly. Development of web-based phenotype assessments would greatly improve the efficiency and cost-effectiveness of genetic research. However, evaluating the reliability of this approach compared to standard, in-depth clinical interviews is essential. The current study replicates and extends a preliminary report on the utility of a web-based screen for Tourette Syndrome (TS) and common comorbid diagnoses (obsessive compulsive disorder (OCD) and attention deficit/hyperactivity disorder (ADHD)). A subset of individuals who completed a web-based phenotyping assessment for a TS genetic study was invited to participate in semi-structured diagnostic clinical interviews. The data from these interviews were used to determine participants' diagnostic status for TS, OCD, and ADHD using best estimate procedures, which then served as the gold standard to compare diagnoses assigned using web-based screen data. The results show high rates of agreement for TS. Kappas for OCD and ADHD diagnoses were also high and together demonstrate the utility of this self-report data in comparison previous diagnoses from clinicians and dimensional assessment methods. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

ADHD: the impact when not diagnosed TDAH: o impacto da ausência do diagnóstico

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Isabella de Souza

2008-01-01

Full Text Available ADHD is a highly prevalent disorder in childhood with social, academic and familial difficulties when not diagnosed and treated correctly. The aim of this case report is to demonstrate the impairment of ADHD among generations of the same family.O TDAH é uma doença de alta prevalência na infância, ocasionando dificuldades sociais, acadêmicas e familiares quando não diagnosticado e tratado adequadamente. O objetivo desse estudo de caso é demonstrar o grave prejuízo causado pelo TDAH em três gerações de uma mesma família.

Diagnosing Dementia—Positive Signs

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... 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 ...

Resilience in Families of Husbands with Prostate Cancer

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Greeff, Abraham P.; Thiel, Colleen

2012-01-01

This study identifies qualities associated with the successful adaptation of families with a husband diagnosed with prostate cancer. Both qualitative and quantitative measures were used in this cross-sectional survey research design. Twenty-one husbands and their spouses independently completed six questionnaires and a biographical questionnaire,…

Perceptions of communication, family adaptability and cohesion: a comparison of adolescents newly diagnosed with cancer and their parents.

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Phillips-Salimi, Celeste R; Robb, Sheri L; Monahan, Patrick O; Dossey, Amy; Haase, Joan E

2014-01-01

To describe and compare adolescent and parent perspectives on communication, family adaptability and cohesion, as well as relationships among these variables, during the first month of an adolescent's cancer diagnosis. Seventy adolescent-parent dyads were enrolled as part of a larger multi-site study. The adolescents ranged in age from 11 to 19, and 61% were males. Parents were predominately mothers (83%). Dyads were predominately non-Hispanic Caucasian (63%). Measures included the Parent-Adolescent Communication Scale and the Family Adaptability and Cohesion Evaluation Scale (FACES II). Paired t-tests, Pearson correlations, intra-class correlation coefficients and multiple linear regression analyses were completed. Adolescent scores on communication, family adaptability and cohesion were significantly lower than parent scores. The inter-dyadic agreement between adolescents and parents was low. Communication, family adaptability and cohesion were examined separately for adolescents and for parents, and significant relationships were found. Both adolescent- and parent-perceived communication was significantly associated with family adaptability and cohesion outcomes. Differences were found in adolescent and parent perceptions of communication, family adaptability and cohesion. When both adolescents and parents had better perceived communication, this was associated with better perceived family adaptability and cohesion. Results suggest that the development of interventions to enhance adolescent-parent communication could help foster better family adaptability and cohesion, which may ultimately impact their psychological adjustment. In addition, understanding the degree to which adolescents and parents disagree on their perceptions, including the results that parents generally have more favorable perceptions, may be a useful starting point when developing interventions.

Marital and Parent-Child Relationships in Families with Daughters Who Have Eating Disorders

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Latzer, Yael; Lavee, Yoav; Gal, Sharon

2009-01-01

This study assesses and compares the relationship between parents' marital quality, parent-child relationship, and severity of eating-related psychopathology in families with and without eating disorders. Data are collected from the mother, father, and daughter of 30 families with a daughter diagnosed with anorexia or bulimia and from 30 matched…

Hb Nouakchott [α114(GH2)Pro→Leu; HBA1: c.344C>T], A Second and Third Case Described in Two Unrelated Dutch Families.

Science.gov (United States)

Pondman, Kirsten M; Brinkman, Jacoline W; van der Straaten, Hanneke M; Stroobants, An K; Harteveld, Cornelis L

2018-01-01

We report two families, members of which are carriers of a hemoglobin (Hb) variant previously described as Hb Nouakchott [α114(GH2)Pro→Leu; HBA1: c.344C>T; p.Pro115Leu]. In the first family of Dutch origin, the proband, a 32-year-old male and his 65-year-old father, were both carriers of Hb Nouakchott. Of the second family we tested, only the proband, a 56-year-old Dutch female was a Hb Nouakchott carrier. Hematological analyses of these cases showed the anomaly behaves as a silent Hb variant without clinical consequences. The Hb variant remained unnoticed using high performance liquid chromatography (HPLC), while an additional peak was detected by capillary electrophoresis (CE). These independent findings of Hb Nouakchott indicate that this Hb variant might not be very rare, but simply remains under diagnosed depending on the Hb separation technique used.

Being publicly diagnosed

DEFF Research Database (Denmark)

Konradsen, Hanne; Lillebaek, Troels; Wilcke, Torgny

2014-01-01

a patient with TB, and finally being in medical treatment. Before being diagnosed with TB, patients were weighing between biding their time and deciding to undergo an examination. Social pressure and feelings of social responsibility tended to affect the decision. Having undergone the examination......INTRODUCTION: Tuberculosis (TB) is a disease which affects people worldwide, but there is knowledge lacking about patients' experiences in low-prevalence and high-income countries. AIM: To provide a theoretical framework for the process of being diagnosed with tuberculosis in a Danish setting....... 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...

Problems with diagnosing Conversion Disorder in response to variable and unusual symptoms

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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

“The Logic of Care” – Parents’ perceptions of the educational process when a child is newly diagnosed with type 1 diabetes

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Jönsson Lisbeth

2012-10-01

Full Text Available Abstract Background The number of new cases of type 1 diabetes mellitus (T1DM has increased substantially in recent years and it is now one of the most common long-term endocrine disorders in childhood. In Sweden the child and family are hospitalised in accordance with the national guidelines for one to two weeks at diagnosis. The purpose of this study was to describe parents’ perceptions of the educational process when their child is newly diagnosed with T1DM. Methods Qualitative interviews were performed in the south western part of Sweden with ten mothers and eight fathers of children, diagnosed with T1DM, at three to six months after they had received the diagnosis. The interviews were analysed using deductive content analysis and Mol’s philosophical theory. Results The results show that almost all parents had experienced the educational process as being satisfactory. However, most parents felt that the teaching needed to be adapted to the individual families and to help them to learn to live with diabetes in their everyday lives. Rather than merely teaching according to a fixed schedule and cramming knowledge, the education should be parent-centered and provide time for grief and shock. There should also be a greater emphasis on why certain things should be done rather than on what should be done. The routines learned at the hospital made the efforts to be good parents managing the child’s disease, and continuing to lead a normal family life, a difficult task. Conclusions In order to optimize the educational process for families with children newly diagnosed with T1DM an increased focus on the families’ perceptions might be helpful in that this could lead to further revelations of the educational process thus making it more understandable for the family members involved.

[Spinocerebellar ataxia type 8: the case of a Spanish family].

Science.gov (United States)

Mayo-Cabrero, D; Sánchez-Migallón, M; Cantarero, S; García-Ruiz Espiga, P J; Giménez-Pardo, A; Trujillo-Tiebas, M; Ayuso-García, C

Dominant autosomic ataxias include a group of neurodegenerative diseases characterized by the abnormal expansion of triplets. Male aged 33, with expansion of the SCA 8 gene (100 repetitions), who presented a clinical picture compatible with a pancerebellar syndrome. The patient had been diagnosed 11 years earlier as suffering from previously of histiocytosis X. A clinico genetic study was conducted on the patient and several members of his family (parents and two sisters). Both sisters and the father were found to be carriers of the expansion (110 and 150 repetitions, respectively), and are currently asymptomatic. There is no relation between the number of repetitions and the age of onset of the disease. The normal interval in our population oscillates between 16 37 repetitions, and the pathological interval has not been well determined. There may be a relation between the SCA 8 form and histiocytosis X.

Histopathological features of breast tumours in BRCA1, BRCA2 and mutation-negative breast cancer families

International Nuclear Information System (INIS)

Eerola, Hannaleena; Heikkilä, Päivi; Tamminen, Anitta; Aittomäki, Kristiina; Blomqvist, Carl; Nevanlinna, Heli

2005-01-01

Histopathological features of BRCA1 and BRCA2 tumours have previously been characterised and compared with unselected breast tumours; however, familial non-BRCA1/2 tumours are less well known. The aim of this study was to characterise familial non-BRCA1/2 tumours and to evaluate routine immunohistochemical and pathological markers that could help us to further distinguish families carrying BRCA1/2 mutations from other breast cancer families. Breast cancer tissue specimens (n = 262) from 25 BRCA1, 20 BRCA2 and 74 non-BRCA1/2 families were studied on a tumour tissue microarray. Immunohistochemical staining of oestrogen receptor (ER), progesterone receptor (PgR) and p53 as well as the histology and grade of these three groups were compared with each other and with the respective information on 862 unselected control patients from the archives of the Pathology Department of Helsinki University Central Hospital. Immunohistochemical staining of erbB2 was also performed among familial cases. BRCA1-associated cancers were diagnosed younger and were more ER-negative and PgR-negative, p53-positive and of higher grade than the other tumours. However, in multivariate analysis the independent factors compared with non-BRCA1/2 tumours were age, grade and PgR negativity. BRCA2 cases did not have such distinctive features compared with non-BRCA1/2 tumours or with unselected control tumours. Familial cases without BRCA1/2 mutations had tumours of lower grade than the other groups. BRCA1 families differed from mutation-negative families by age, grade and PgR status, whereas ER status was not an independent marker

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.)

Transmission of infectious diseases from internationally adopted children to their adoptive families.

Science.gov (United States)

Sciauvaud, J; Rigal, E; Pascal, J; Nourrisson, C; Poirier, P; Poirier, V; Vidal, M; Mrozek, N; Laurichesse, H; Beytout, J; Labbe, A; Lesens, O

2014-08-01

Internationally adopted children may suffer from different pathologies, including infectious diseases contracted in the country of origin. We evaluated the frequency of infectious diseases that may disseminate from adoptees to adoptive families on their arrival in France. All children who attended the clinic for international adoption in Clermont-Ferrand from January 2009 through to December 2011 were eligible for inclusion in the study. Standardized medical records dedicated to international adoption were retrospectively reviewed for demographic data, clinical diagnosis, and biological and radiological results. Data were completed by phone interviews with adoptive families after informed consent. One hundred and forty-two medical records were retrospectively reviewed and 86% of families agreed to be interviewed. One hundred and seventy-one potentially transmissible infections were diagnosed in 142 children, 12% (n = 20) of which were transmitted to adoptive families. Most of these infections were benign and transmission was restricted to the close family. Tinea was diagnosed in 44 adoptees and transmitted in 15 cases. Panton Valentine leukocidin producing methicillin-sensitive S. aureus (MSSA) was transmitted to an adoptive father who required hospitalization for bursitis. Transmission also occurred for CMV (n = 1), hepatitis A (n = 1), giardiasis (n = 1), scabies (n = 1), Moluscum (n = 2) and pediculosis (n = 2). Two cases of chronic hepatitis B and latent tuberculosis were diagnosed without subsequent transmission. In conclusion, infectious diseases are common in internationally adopted children and should be detected shortly after arrival to avoid transmission. © 2013 The Authors Clinical Microbiology and Infection © 2013 European Society of Clinical Microbiology and Infectious Diseases.

DMD and BMD in the same family due to two distinct mutations

Energy Technology Data Exchange (ETDEWEB)

Morandi, L.; Mora, M.; Di Blasi, C.; Brugnoni, R. [National Inst. C. Besta, Milan (Italy)] [and others

1995-12-04

We report on a family with a boy affected by Duchenne muscular dystrophy (DMD) and an asymptomatic cousin with a Becker-type dystrophin abnormality, diagnosed by chance. Dystrophin gene analysis showed that these conditions were caused by two distinct deletions with breakpoints in different exons. In Xp21 families, DNA analysis and dystrophin testing of asymptomatic males with high CK plasma levels might detect different dystrophin mutations in separate haplotypes as in our family, although we stress there should be clear clinical or familial indications for such testing. 24 refs., 5 figs.

Familial chondrocalcinosis in the Spanish population.

Science.gov (United States)

Fernandez Dapica, M P; Gómez-Reino, J J

1986-06-01

We have found in our clinic a 28.1% prevalence of familial chondrocalcinosis among 149 family members of 32 patients with calcium pyrophosphate dihydrate deposition disease. The clinical and radiological characteristics of these familial chondrocalcinosis patients were similar to those of the Chiloes with familial chondrocalcinosis previously reported. No significant clinical or radiological differences were detected between our sporadic and familial chondrocalcinosis patients. Our findings support the hypothesis that the Chiloes familial chondrocalcinosis was carried to Chile by Spanish immigrants.

Health-related quality of life of children with newly diagnosed specific learning disability.

Science.gov (United States)

Karande, Sunil; Bhosrekar, Kirankumar; Kulkarni, Madhuri; Thakker, Arpita

2009-06-01

The objective of this study was to measure health-related quality of life (HRQL) of children with newly diagnosed specific learning disability (SpLD) using the Child Health Questionnaire-Parent Form 50. We detected clinically significant deficits (effect size > or = -0.5) in 9 out of 12 domains: limitations in family activities, emotional impact on parents, social limitations as a result of emotional-behavioral problems, time impact on parents, general behavior, physical functioning, social limitations as a result of physical health, general health perceptions and mental health; and in both summary scores (psychosocial > physical). Multivariate analysis revealed having > or = 1 non-academic problem(s) (p or =1 non-academic problem(s) (p = 0.006) or first-born status (p = 0.035) predicted a poor physical summary score. HRQL is significantly compromised in children having newly diagnosed SpLD.

The meaning and validation of social support networks for close family of persons with advanced cancer

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Sjolander Catarina

2012-09-01

Full Text Available Abstract Background To strengthen the mental well-being of close family of persons newly diagnosed as having cancer, it is necessary to acquire a greater understanding of their experiences of social support networks, so as to better assess what resources are available to them from such networks and what professional measures are required. The main aim of the present study was to explore the meaning of these networks for close family of adult persons in the early stage of treatment for advanced lung or gastrointestinal cancer. An additional aim was to validate the study’s empirical findings by means of the Finfgeld-Connett conceptual model for social support. The intention was to investigate whether these findings were in accordance with previous research in nursing. Methods Seventeen family members with a relative who 8–14 weeks earlier had been diagnosed as having lung or gastrointestinal cancer were interviewed. The data were subjected to qualitative latent content analysis and validated by means of identifying antecedents and critical attributes. Results The meaning or main attribute of the social support network was expressed by the theme Confirmation through togetherness, based on six subthemes covering emotional and, to a lesser extent, instrumental support. Confirmation through togetherness derived principally from information, understanding, encouragement, involvement and spiritual community. Three subthemes were identified as the antecedents to social support: Need of support, Desire for a deeper relationship with relatives, Network to turn to. Social support involves reciprocal exchange of verbal and non-verbal information provided mainly by lay persons. Conclusions The study provides knowledge of the antecedents and attributes of social support networks, particularly from the perspective of close family of adult persons with advanced lung or gastrointestinal cancer. There is a need for measurement instruments that could

Prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli families.

Science.gov (United States)

Rosenmann, Ada; Bejarano-Achache, Idit; Eli, Dalia; Maftsir, Genia; Mizrahi-Meissonnier, Liliana; Blumenfeld, Anat

2009-10-01

To present our accumulated data on prenatal molecular diagnosis of oculocutaneous albinism (OCA) in a large cohort of Israeli albino families. Albinism consists of variable phenotypes, but only families with predicted severely handicapped albino offspring, who declared their wish to terminate a pregnancy of such a fetus, are eligible for prenatal testing. Prenatal testing is not offered otherwise. Following detailed genetic investigation and counseling, molecular prenatal testing was performed using the combination of mutation screening, direct sequencing, and haplotype analysis. A total of 55 prenatal tests were performed in 37 families; in 26 families the propositus was the child, and in 11, a parent or a close relative. In 32 families tyrosinase (TYR) mutations were diagnosed. In 5 families a P gene mutation was detected. Twelve albino fetuses were diagnosed. Following further genetic counseling, all couples elected to terminate the pregnancy. Three additional pregnancies were terminated for other reasons. Families with increased risk for an albino child with severe visual handicap, seek premarital and prenatal genetic counseling and testing, for the prevention of affected offspring. Our combined methods of molecular genetic testing enable a nationwide approach for prevention of albinism. The same paradigm can be applied to other populations affected with albinism.

Sex ratio at birth in India, its relation to birth order, sex of previous children and use of indigenous medicine.

Directory of Open Access Journals (Sweden)

Samiksha Manchanda

Full Text Available OBJECTIVE: Sex-ratio at birth in families with previous girls is worse than those with a boy. Our aim was to prospectively study in a large maternal and child unit sex-ratio against previous birth sex and use of traditional medicines for sex selection. MAIN OUTCOME MEASURES: Sex-ratio among mothers in families with a previous girl and in those with a previous boy, prevalence of indigenous medicine use and sex-ratio in those using medicines for sex selection. RESULTS: Overall there were 806 girls to 1000 boys. The sex-ratio was 720:1000 if there was one previous girl and 178:1000 if there were two previous girls. In second children of families with a previous boy 1017 girls were born per 1000 boys. Sex-ratio in those with one previous girl, who were taking traditional medicines for sex selection, was 928:1000. CONCLUSION: Evidence from the second children clearly shows the sex-ratio is being manipulated by human interventions. More mothers with previous girls tend to use traditional medicines for sex selection, in their subsequent pregnancies. Those taking such medication do not seem to be helped according to expectations. They seem to rely on this method and so are less likely use more definitive methods like sex selective abortions. This is the first such prospective investigation of sex ratio in second children looked at against the sex of previous children. More studies are needed to confirm the findings.

Hemophilia Diagnosis

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... and the severity. Families With a History of Hemophilia Any family history of bleeding, such as following ... for hemophilia . Families With No Previous History of Hemophilia About one-third of babies who are diagnosed ...

Work-Family Conflict and the Perception of Departmental and Institutional Work-Family Policies in Collegiate Athletic Trainers

Science.gov (United States)

Godek, Michelle M.

2012-01-01

Employees throughout the United States struggle to balance their work and family commitments, in part because the workforce makeup has changed significantly over the last half century. The evolving family structure also has contributed to this struggle. This research seeks to build on previous work-family literature by incorporating the six…

Identification of nursing management diagnoses.

Science.gov (United States)

Morrison, R S

1997-02-01

Theories from nursing and management provide frameworks for enhancing effectiveness of nursing management practice. The concept nursing management diagnosis has been developed by integrating nursing diagnosis and organizational diagnosis as a basis for nurse manager decision-making. Method triangulation was used to identify problems of managing nursing units, to validate those problems for relevancy to practice, to generate nursing management diagnoses, and to validate the diagnoses. Diagnoses were validated according to a definition of nursing management diagnosis provided. Of the 72 nursing management diagnoses identified, 66 were validated at a 70% level of agreement by nurse managers participating in the study.

Family Size, Interaction, Affect and Stress

Science.gov (United States)

Nye, F. Ivan; And Others

1970-01-01

Synthesizes previous research on relationship of family size to attitudes. Reduces findings to four propositions and submits these propositions to additional tests utilizing secondary data from two large surveys. Substantively, families of three or four children rank lower in all of the analyses than do families with one or two children. Presented…

Parental communication style and family relationships in children of bipolar parents.

Science.gov (United States)

Vance, Yvonne H; Huntley Jones, Steven; Espie, Jonathan; Bentall, Richard; Tai, Sara

2008-09-01

To examine relationships between parental communication styles and family environment in parents with bipolar disorder (BD) and their children (CBP). On measures of parental communication styles and family environment, 20 BD parents and their 23 children (CBP) were compared to controls. Children completed a current mood measure. BD parents endorsed more negative communication styles and were less expressive than controls. CBP presented with more current or lifetime mood disorder diagnoses than control children (CC). Current depressive mood was associated with different perceptions of family environment for both CBP and CC. This familial high risk design indicated differences in family environment, parenting style, and in children of bipolar parents' perception of their family environment as it relates to their current mood.

Lessons learned from family history in ocular genetics.

Science.gov (United States)

Marino, Meghan J

2015-07-01

Given the vast genetic and phenotypic heterogeneity seen in ocular genetic disorders, considering a patient's clinical phenotype in the context of the family history is essential. Clinicians can improve patient care by appropriately incorporating a patient's family history into their evaluation. Obtaining, reviewing, and accurately interpreting the pedigree are skills geneticists and genetic counselors possess. However, with the field of ophthalmic genetics vastly growing, it is becoming essential for ophthalmologists to understand the utility of the pedigree and develop their abilities in eliciting this information. By not considering a patient's clinical history in the context of the family history, diagnoses can be missed or inaccurate. The purpose of this review is to inform ophthalmologists on the importance of the family history and highlight how the pedigree can aid in establishing an accurate genetic diagnosis. This review also provides to ophthalmologists helpful tips on eliciting and interpreting a patient's family history.

A Comparison of Short- And Long-Term Family Therapy for Adolescent Anorexia Nervosa.

Science.gov (United States)

Lock, James; Agras, W. Stewart; Bryson, Susan; Kraemer, Helena C.

2005-01-01

Objective: Research suggests that family treatment for adolescents with anorexia nervosa may be effective. This study was designed to determine the optimal length of such family therapy. Method: Eighty-six adolescents (12-18 years of age) diagnosed with anorexia nervosa were allocated at random to either a short-term (10 sessions over 6 months) or…

Perception of transgenerational family relationships: Comparison of eating-disordered patients and their parents

OpenAIRE

Pilecki, Maciej Wojciech; J?zefik, Barbara

2013-01-01

Background Disturbances in various elements of transgenerational family functioning patterns are not uncommon in studies of eating disorders. We examined the relationship between patients? perception of autonomy and intimacy in their families of origin and that of their parents in their own families of origin. Material/Methods The sample consisted of 112 girls who had a diagnosis of an eating disoder and their parents; 54 of the girls were diagnosed with anorexia nervosa restrictive subtype, ...

[Familial Wolfram syndrome].

Science.gov (United States)

Bessahraoui, M; Paquis, V; Rouzier, C; Bouziane-Nedjadi, K; Naceur, M; Niar, S; Zennaki, A; Boudraa, G; Touhami, M

2014-11-01

Wolfram syndrome (WS) is a rare autosomal recessive progressive neurodegenerative disorder, and it is mainly characterized by the presence of diabetes mellitus and optic atrophy. Other symptoms such as diabetes insipidus, deafness, and psychiatric disorders are less frequent. The WFS1 gene, responsible for the disease and encoding for a transmembrane protein called wolframin, was localized in 1998 on chromosome 4p16. In this report, we present a familial observation of Wolfram syndrome (parents and three children). The propositus was a 6-year-old girl with diabetes mellitus and progressive visual loss. Her family history showed a brother with diabetes mellitus, optic atrophy, and deafness since childhood and a sister with diabetes mellitus, optic atrophy, and bilateral hydronephrosis. Thus, association of these familial and personal symptoms is highly suggestive of Wolfram syndrome. The diagnosis was confirmed by molecular analysis (biology), which showed the presence of WFS1 homozygous mutations c.1113G>A (p.Trp371*) in the three siblings and a heterozygote mutation in the parents. Our observation has demonstrated that pediatricians should be aware of the possibility of Wolfram syndrome when diagnosing optic atrophy in diabetic children. Copyright © 2014 Elsevier Masson SAS. All rights reserved.

Managing incidentally diagnosed isolated factor VII deficiency perioperatively: a brief expert consensus report.

Science.gov (United States)

Sheth, Sujit; Soff, Gerald; Mitchell, Beau; Green, David; Kaicker, Shipra; Fireman, Fernando; Tugal, Oya; Guarini, Ludovico; Giardina, Patricia; Aledort, Louis

2012-02-01

While isolated factor VII (FVII) deficiency is being more frequently diagnosed owing to improved preoperative screening procedures, there is no specific guideline for perioperative management of such patients. To complicate the issue, FVII activity levels seem to correlate less well with the risk of hemorrhage than the patient's past and family bleeding history do. We have devised expert consensus recommendations for managing such patients perioperatively, taking into consideration the personal and family bleeding history, the FVII activity level and the inherent bleeding risk of the procedure itself. We hope that clinicians will find this a useful tool in the decision-making process, thereby limiting the use of recombinant factor VIIa to those who need it most, and preventing possible thrombotic complications in those without a strong indication for its use.

[Evolution of stress in families of children with attention deficit hyperactivity disorder].

Science.gov (United States)

Guerro-Prado, D; Mardomingo-Sanz, M L; Ortiz-Guerra, J J; García-García, P; Soler-López, B

2015-11-01

The objective of this study was to assess the evolution of stress in families of children and adolescents who start psychopharmacological treatment after being diagnosed with attention deficit hyperactivity disorder (ADHD), and the ability to detect this change using the FSI (Family Strain Index) questionnaire. Forty eight (48) specialists in child-adolescent psychiatry or neuropediatrics included 429 families of children diagnosed with ADHD, represented by the father, mother or guardian of the child. In the baseline visit, and at two and four months, the intensity of the symptoms of ADHD was evaluated using the abbreviated Conners scale, and family stress was evaluated using the FSI questionnaire. The following was observed: a) an improvement in the overall FSI score and in all its dimensions (Pchildren or adolescents (420) received treatment with modified-release methylphenidate. There was a significant relationship between the positive evolution of symptoms in children with ADHD and the reduction of family stress, as evaluated by the FSI questionnaire, after starting psychopharmacological treatment. This study showed a great sensitivity to change in the clinical situation of patients with ADHD, evaluated through the stress it produces on its families. It is recommended to use this questionnaire as an indirect measurement of the repercussions of the disorder on the environment of the child with ADHD in terms of family stress. Copyright © 2014 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.

The Burden of Diagnosed and Undiagnosed Diabetes in Native Hawaiian and Asian American Hospitalized Patients.

Science.gov (United States)

Sentell, T L; Cheng, Y; Saito, E; Seto, T B; Miyamura, J; Mau, M; Juarez, D T

2015-12-01

Little is known about diabetes in hospitalized Native Hawaiians and Asian Americans. We determined the burden of diabetes (both diagnosed and undiagnosed) among hospitalized Native Hawaiian, Asian (Filipino, Chinese, Japanese), and White patients. Diagnosed diabetes was determined from discharge data from a major medical center in Hawai'i during 2007-2008. Potentially undiagnosed diabetes was determined by Hemoglobin A1c ≥6.5% or glucose ≥200 mg/dl values for those without diagnosed diabetes. Multivariable log-binomial models predicted diabetes (potentially undiagnosed and diagnosed, separately) controlling for socio-demographic factors. Of 17,828 hospitalized patients, 3.4% had potentially undiagnosed diabetes and 30.5% had diagnosed diabetes. In multivariable models compared to Whites, Native Hawaiian and all Asian subgroups had significantly higher percentages of diagnosed diabetes, but not of potentially undiagnosed diabetes. Potentially undiagnosed diabetes was associated with significantly more hospitalizations during the study period compared to both those without diabetes and those with diagnosed diabetes. In all racial/ethnic groups, those with potentially undiagnosed diabetes also had the longest length of stay and were more likely to die during the hospitalization. Hospitalized Native Hawaiians (41%) and Asian subgroups had significantly higher overall diabetes burdens compared to Whites (23%). Potentially undiagnosed diabetes was associated with poor outcomes. Hospitalized patients, irrespective of race/ethnicity, may require more effective inpatient identification and management of previously undiagnosed diabetes to improve clinical outcomes.

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

Family Adaptability and Cohesion and High Blood Pressure among Urban African American women

Science.gov (United States)

Brittain, Kelly; Taylor, Jacquelyn Y.; Wu, Chun Yi

2010-01-01

African American women are at greater risk for complications related to high blood pressure. This study examined relationships between high blood pressure, pulse pressure, body mass index, family adaptability, family cohesion and social support among 146 Urban African American women. Significant relationships were found between family adaptability and systolic blood pressure (p = .03) and between adaptability and pulse pressure (p ≤ .01). Based on study results, practitioners should routinely assess family functioning, specifically family adaptability, in African American women who are at risk for high blood pressure or diagnosed with high blood pressure to minimize complications associated with hypertension. PMID:21076625

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.

Wives without husbands: gendered vulnerability to sexually transmitted infections among previously married women in India.

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Walters, Kimberly; Dandona, Rakhi; Walters, Lawrence C; Lakshmi, Vemu; Dandona, Lalit; Schneider, John A

2012-01-01

Using population-based and family structural data from a high HIV-prevalence district of Southern India, this paper considers four suggested social scenarios used to explain the positive correlation between HIV prevalence and previously married status among Indian women: (1) infection from and then bereavement of an infected husband; (2) abandonment after husbands learn of their wives' HIV status; (3) economic instability after becoming previously married, leading women to seek financial support through male partners; and (4) the social status of being previously married exposing women to sexual harassment and predation. By also considering seroprevalence of two other common sexually transmitted infections (STIs), herpes and syphilis, in a combined variable with HIV, we limit the likelihood of the first two scenarios accounting for the greater part of this correlation. Through a nuanced analysis of household residences patterns (family structure), standard of living, and education, we also limit the probability that scenario three explains a greater portion of the correlation. Scenario four emerges as the most likely explanation for this correlation, recognizing that other scenarios are also possible. Further, the interdisciplinary literature on the social position of previously married women in India strongly supports the suggestion that, as a population, previously married women are sexually vulnerable in India. Previously married status as an STI risk factor requires further biosocial research and warrants concentrated public health attention.

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)

Family history of atrial fibrillation is associated with earlier-onset and more symptomatic atrial fibrillation

DEFF Research Database (Denmark)

Gundlund, Anna; Fosbøl, Emil Loldrup; Kim, Sunghee

2016-01-01

BACKGROUND: We addressed whether patients with a family history of atrial fibrillation (AF) were diagnosed as having AF earlier in life, were more symptomatic, and had worse outcomes compared with those without a family history of AF. METHODS: Using the ORBIT-AF, we compared symptoms and disease...

ADHD Symptom Severity following Participation in a Pilot, 10-Week, Manualized, Family-Based Behavioral Intervention

Science.gov (United States)

Curtis, David F.

2010-01-01

This investigation examined the effectiveness of a pilot, manualized 10-week intervention of family skills training for ADHD-related symptoms. The intervention combined behavioral parent training and child focused behavioral activation therapy. Participants were families with children ages 7-10 diagnosed with ADHD-Combined Type. This pilot…

The Family Contexts of Children's Sibling Relationships.

Science.gov (United States)

McHale, Susan M.; Crouter, Ann C.

1996-01-01

Unlike much previous research on sibling relationships, which emphasizes the congruence across various types of family experiences, the research described in this article explored between-family differences in patterns of experiences within families. The work is built upon Bronfenbrenner's ecological model and Magnusson's interactional…

Is Previous Respiratory Disease a Risk Factor for Lung Cancer?

Science.gov (United States)

Denholm, Rachel; Schüz, Joachim; Straif, Kurt; Stücker, Isabelle; Jöckel, Karl-Heinz; Brenner, Darren R.; De Matteis, Sara; Boffetta, Paolo; Guida, Florence; Brüske, Irene; Wichmann, Heinz-Erich; Landi, Maria Teresa; Caporaso, Neil; Siemiatycki, Jack; Ahrens, Wolfgang; Pohlabeln, Hermann; Zaridze, David; Field, John K.; McLaughlin, John; Demers, Paul; Szeszenia-Dabrowska, Neonila; Lissowska, Jolanta; Rudnai, Peter; Fabianova, Eleonora; Dumitru, Rodica Stanescu; Bencko, Vladimir; Foretova, Lenka; Janout, Vladimir; Kendzia, Benjamin; Peters, Susan; Behrens, Thomas; Vermeulen, Roel; Brüning, Thomas; Kromhout, Hans

2014-01-01

Rationale: Previous respiratory diseases have been associated with increased risk of lung cancer. Respiratory conditions often co-occur and few studies have investigated multiple conditions simultaneously. Objectives: Investigate lung cancer risk associated with chronic bronchitis, emphysema, tuberculosis, pneumonia, and asthma. Methods: The SYNERGY project pooled information on previous respiratory diseases from 12,739 case subjects and 14,945 control subjects from 7 case–control studies conducted in Europe and Canada. Multivariate logistic regression models were used to investigate the relationship between individual diseases adjusting for co-occurring conditions, and patterns of respiratory disease diagnoses and lung cancer. Analyses were stratified by sex, and adjusted for age, center, ever-employed in a high-risk occupation, education, smoking status, cigarette pack-years, and time since quitting smoking. Measurements and Main Results: Chronic bronchitis and emphysema were positively associated with lung cancer, after accounting for other respiratory diseases and smoking (e.g., in men: odds ratio [OR], 1.33; 95% confidence interval [CI], 1.20–1.48 and OR, 1.50; 95% CI, 1.21–1.87, respectively). A positive relationship was observed between lung cancer and pneumonia diagnosed 2 years or less before lung cancer (OR, 3.31; 95% CI, 2.33–4.70 for men), but not longer. Co-occurrence of chronic bronchitis and emphysema and/or pneumonia had a stronger positive association with lung cancer than chronic bronchitis “only.” Asthma had an inverse association with lung cancer, the association being stronger with an asthma diagnosis 5 years or more before lung cancer compared with shorter. Conclusions: Findings from this large international case–control consortium indicate that after accounting for co-occurring respiratory diseases, chronic bronchitis and emphysema continue to have a positive association with lung cancer. PMID:25054566

The antisocial family tree: family histories of behavior problems in antisocial personality in the United States.

Science.gov (United States)

Vaughn, Michael G; Salas-Wright, Christopher P; DeLisi, Matt; Qian, Zhengmin

2015-05-01

Multiple avenues of research (e.g., criminal careers, intergenerational family transmission, and epidemiological studies) have indicated a concentration of antisocial traits and behaviors that cluster among families and within individuals in a population. The current study draws on each of these perspectives in exploring the intergenerational contours of antisocial personality disorder across multiple generations of a large-scale epidemiological sample. The analytic sample of persons meeting criteria for antisocial personality disorder (N = 1,226) was derived from waves I and II of the National Epidemiologic Survey on Alcohol and Related Conditions. Path analytic, latent class, and multinomial models were executed to describe and elucidate family histories among persons diagnosed with antisocial personality disorder. Three classes of an antisocial family tree were found: minimal family history of problem behaviors (70.3 % of sample) who were characterized by higher socioeconomic functioning, parental and progeny behavior problems (9.4 % of sample) who were characterized by criminal behaviors, psychopathology, and substance use disorders, and multigenerational history of problem behaviors (20.3 % of sample) who were characterized by alcoholism, psychopathology, and versatile criminal offending. These findings add a typology to intergenerational studies of antisocial behavior that can assist in identifying etiological and treatment factors among those for whom crime runs in the family.

The family Cyclobacteriaceae

Digital Repository Service at National Institute of Oceanography (India)

AnilKumar, P.; Srinivas, T.N.R.

, carotenoid biosynthesis, antibiotic resistance, and quorum-sensing regulation were found Pathogenicity is not reported among the Cyclobacteriaceae members This contribution is a modified and updated version of previous family descriptions (Nedashkovskaya OI...

PATTERN OF INHERITANCE OF IDIOPATHIC HYPERCALCIURIA IN TWO FAMILIES

Directory of Open Access Journals (Sweden)

A. Nickavar

2006-09-01

Full Text Available Idiopathic hypercalciuria is a leading cause of frequency-dysuria syndrome in childhood. Different modes of inheritance have been suggested in this disease. This article presents the occurrence of idiopathic hypercalciuria in all children of two families. In the first family, a 5.5 year old girl with a history of renal stones and dysuria due to hypercalciuria, had two involved brothers and one sister. In the second family, hypercalciuria and medullary nephrocalcinosis were detected in two siblings who were admitted for polyuria and dysuria. Idiopathic type of hypercalciuria was diagnosed in these two families by normal laboratory exams and exclusion of other causes of normocalcemic hypercalciuria. According to the involvement of all offsprings (both sexes in these two families, it is suggested that idiopathic hypercalciuria is an autosomal dominant disease with complete penetration.

Comparison of health care needs of child family members of adults with alcohol or drug dependence versus adults with asthma or diabetes.

Science.gov (United States)

Ray, G Thomas; Mertens, Jennifer R; Weisner, Constance

2014-05-01

To compare the health problems, preventive care utilization, and medical costs of child family members (CFMs) of adults diagnosed with alcohol or drug dependence (AODD) to CFMs of adults diagnosed with diabetes or asthma. Child family members of adults diagnosed with AODD between 2002 and 2005 and CFMs of matched adults diagnosed with diabetes or asthma were followed up to 7 years after diagnosis of the index adult. Logistic regression was used to determine whether the CFMs of AODD adults were more likely to be diagnosed with medical conditions, or get preventive care, than the CFMs of adults with asthma or diabetes. Children's health services use was compared using multivariate models. In Year 5 after index date, CFMs of adults with AODD were more likely to be diagnosed with depression and AODD than CFMs of adults with asthma or diabetes and were less likely to be diagnosed with asthma, otitis media, and pneumonia than CFMs of adults with asthma. CFMs of AODD adults were less likely than CFMs of adult asthmatic patients to have annual well-child visits. CFMs of AODD adults had similar mean annual total health care costs to CFMs of adults with asthma but higher total costs ($159/yr higher, confidence interval, $56-$253) than CFMs of adult diabetic patients. CFMs of adults with AODD had higher emergency department, higher outpatient alcohol and drug program, higher outpatient psychiatry, and lower primary care costs than CFMs of either adult asthmatic patients or diabetic patients. Children in families with an alcohol- or drug-dependent adult have unique patterns of health conditions, and differences in the types of health services used, compared to children in families with an adult asthmatic or diabetic family member. However, overall cost and utilization for health care services is similar or only somewhat higher. This is the first study of its kind, and the results have implications for the reduction of parental alcohol or drug dependence stigma by health care

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

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......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...

Efficacy of escalated imatinib combined with cytarabine in newly diagnosed patients with chronic myeloid leukemia

NARCIS (Netherlands)

Deenik, Wendy; Janssen, Jeroen J. W. M.; van der Holt, Bronno; Verhoef, Gregor E. G.; Smit, Willem M.; Kersten, Marie José; Daenen, Simon M. G. J.; Verdonck, Leo F.; Ferrant, Augustin; Schattenberg, Anton V. M. B.; Sonneveld, Pieter; van Marwijk Kooy, Marinus; Wittebol, Shulamit; Willemze, Roelof; Wijermans, Pierre W.; Beverloo, H. Berna; Löwenberg, Bob; Valk, Peter J. M.; Ossenkoppele, Gert J.; Cornelissen, Jan J.

2010-01-01

In order to improve the molecular response rate and prevent resistance to treatment, combination therapy with different dosages of imatinib and cytarabine was studied in newly diagnosed patients with chronic myeloid leukemia in the HOVON-51 study. Having reported feasibility previously, we hereby

Long-Term Effects of the Family Check-Up in Public Secondary School on Diagnosed Major Depressive Disorder in Adulthood.

Science.gov (United States)

Connell, Arin M; Dishion, Thomas J

2017-03-01

Given the public health importance of depression, the identification of prevention programs with long-term effects on reducing the rate of depression is of critical importance, as is the examination of factors that may moderate the magnitude of such prevention effects. This study examines the impact of the Family Check-Up, delivered in public secondary schools beginning in sixth grade, on the development of major depression in adulthood (aged 28-30). The multilevel intervention program included (a) a universal classroom-based intervention focused on problem solving and peer relationship skills, (b) the Family Check-Up (selected), a brief assessment-based intervention designed to motivate parents to improve aspects of family functioning when warranted, and (c) family management treatment (indicated), focused on improving parenting skills. Demographic (gender and ethnicity) and baseline risk factors (family conflict, academic problems, antisocial behavior, and peer deviance) were examined as possible moderators in logistic regression analyses. Intervention effects on depression were moderated by baseline family conflict and academic performance, with stronger intervention effects for youth with low grade point averages and from low-conflict families at baseline. Such findings extend the emerging literature on prevention programs with long-term effects on depression, and highlight directions for future research to enhance such effects.

Parental history of psychiatric diagnoses and unipolar depression: a Danish National Register-based cohort study.

Science.gov (United States)

Musliner, K L; Trabjerg, B B; Waltoft, B L; Laursen, T M; Mortensen, P B; Zandi, P P; Munk-Olsen, T

2015-10-01

Depression is known to run in families, but the effects of parental history of other psychiatric diagnoses on depression rates are less well studied. Few studies have examined the impact of parental psychopathology on depression rates in older age groups. We established a population-based cohort including all individuals born in Denmark after 1954 and alive on their 10th birthday (N = 29 76 264). Exposure variables were maternal and paternal history of schizophrenia, bipolar disorder, depression, anxiety or 'other' psychiatric diagnoses. Incidence rate ratios (IRRs) were estimated using Poisson regressions. Parental history of any psychiatric diagnosis increased incidence rates of outpatient (maternal: IRR 1.88, p history. IRRs for parental history of non-affective disorders remained relatively stable across age groups, while IRRs for parental affective disorders (unipolar or bipolar) decreased with age from 2.29-3.96 in the youngest age group to 1.53-1.90 in the oldest group. IRR estimates for all parental diagnoses were similar among individuals aged ⩾41 years (IRR range 1.51-1.90). Parental history of any psychiatric diagnosis is associated with increased incidence rates of unipolar depression. In younger age groups, parental history of affective diagnoses is more strongly associated with rates of unipolar depression than non-affective diagnoses; however, this distinction disappears after age 40, suggesting that parental psychopathology in general, rather than any one disorder, confers risk for depression in middle life.

Is family size related to adolescence mental hospitalization?

Science.gov (United States)

Kylmänen, Paula; Hakko, Helinä; Räsänen, Pirkko; Riala, Kaisa

2010-05-15

The aim of this study was to investigate the association between family size and psychiatric disorders of underage adolescent psychiatric inpatients. The study sample consisted of 508 adolescents (age 12-17) admitted to psychiatric impatient care between April 2001 and March 2006. Diagnostic and Statistical Manual of Mental Disorders, fourth edition-based psychiatric diagnoses and variables measuring family size were obtained from the Schedule for Affective Disorder and Schizophrenia for School-Age Children Present and Lifetime (K-SADS-PL). The family size of the general Finnish population was used as a reference population. There was a significant difference between the family size of the inpatient adolescents and the general population: 17.0% of adolescents came from large families (with 6 or more children) while the percentage in the general population was 3.3. A girl from a large family had an about 4-fold risk of psychosis other than schizophrenia. However, large family size was not associated with a risk for schizophrenia. Large family size was overrepresented among underage adolescents admitted for psychiatric hospitalization in Northern Finland. Copyright 2009 Elsevier Ltd. All rights reserved.

Women, Higher Education and Family Capital: "I Could Not Have Done It without My Family!"

Science.gov (United States)

Webber, Louise Anne

2017-01-01

Previous research suggests that through engagement with higher education (HE), mature female students experience identity change and transformation which could lead to conflict and strain on family relationships. This paper analyses the links between family support and students' feelings of success. The findings are based on qualitative research…

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...

Penetrance and clinical consequences of a gross SDHB deletion in a large family.

Science.gov (United States)

Solis, D C; Burnichon, N; Timmers, H J L M; Raygada, M J; Kozupa, A; Merino, M J; Makey, D; Adams, K T; Venisse, A; Gimenez-Roqueplo, A-P; Pacak, K

2009-04-01

Mutations in the gene encoding subunit B of the mitochondrial enzyme succinate dehydrogenase (SDHB) are inherited in an autosomal dominant manner and are associated with hereditary paraganglioma (PGL) and pheochromocytoma. The phenotype of patients with SDHB point mutations has been previously described. However, the phenotype and penetrance of gross SDHB deletions have not been well characterized as they are rarely described. The objective was to describe the phenotype and estimate the penetrance of an exon 1 large SDHB deletion in one kindred. A retrospective and prospective study of 41 relatives across five generations was carried out. The main outcome measures were genetic testing, clinical presentations, plasma catecholamines and their O-methylated metabolites. Of the 41 mutation carriers identified, 11 were diagnosed with PGL, 12 were found to be healthy carriers after evaluation, and 18 were reportedly healthy based on family history accounts. The penetrance of PGL related to the exon 1 large SDHB deletion in this family was estimated to be 35% by age 40. Variable expressivity of the phenotype associated with a large exon 1 SDHB deletion was observed, including low penetrance, diverse primary PGL tumor locations, and malignant potential.

Colour patterns do not diagnose species: quantitative evaluation of a DNA barcoded cryptic bumblebee complex.

Directory of Open Access Journals (Sweden)

James C Carolan

Full Text Available Cryptic diversity within bumblebees (Bombus has the potential to undermine crucial conservation efforts designed to reverse the observed decline in many bumblebee species worldwide. Central to such efforts is the ability to correctly recognise and diagnose species. The B. lucorum complex (Bombus lucorum, B. cryptarum and B. magnus comprises one of the most abundant and important group of wild plant and crop pollinators in northern Europe. Although the workers of these species are notoriously difficult to diagnose morphologically, it has been claimed that queens are readily diagnosable from morphological characters. Here we assess the value of colour-pattern characters in species identification of DNA-barcoded queens from the B. lucorum complex. Three distinct molecular operational taxonomic units were identified each representing one species. However, no uniquely diagnostic colour-pattern character state was found for any of these three molecular units and most colour-pattern characters showed continuous variation among the units. All characters previously deemed to be unique and diagnostic for one species were displayed by specimens molecularly identified as a different species. These results presented here raise questions on the reliability of species determinations in previous studies and highlights the benefits of implementing DNA barcoding prior to ecological, taxonomic and conservation studies of these important key pollinators.

Fertility Preservation for Children Diagnosed with Cancer

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Full Text Available ... Provider Pocket Guides Provider Guides Fertility Preservation for Women Diagnosed with Cancer Fertility Preservation for Men Diagnosed ... Patient Pocket Guides Patient Guides Fertility Preservation for Women Diagnosed with Cancer Fertility Preservation for Men Diagnosed ...

Family perspectives in lynch syndrome becoming a family at risk, patterns of communication and influence on relations

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Bartuma Katarina

2012-05-01

Full Text Available Abstract Background A growing number of individuals are diagnosed with hereditary cancer. Though increased levels of anxiety and depression have been demonstrated around the time of genetic counselling, most individuals handle life at increased risk well. Data have, however, been collected on individual basis, which led us to focus on family perspectives of hereditary cancer. Methods Lynch syndrome represents a major type of hereditary colorectal and gynaecological cancer. We preformed open-ended interviews with 27 informants from 9 Lynch syndrome families. Inductive content analysis revealed three major themes: transition to a risk family, patterns of communication and influence on family relations and individual roles. Results Family members described how learning about Lynch syndrome shifted focus from daily issues to concerns about cancer. Changes in communication related to difficulties in talking to children about heredity and informing new family members and distant relatives about an increased risk of cancer. Influence on relations was exemplified by family members taking on different roles, e.g. females often being responsible for coordinating information about heredity and providing support. Families in which members had experienced cancer at young age typically informed children soon after learning about heredity and at young age, whereas families with experience of cancer at higher age postponed information and thereby also genetic counselling. Conclusions Three major family perspectives are described in Lynch syndrome families; becoming a risk family, patterns of communication and influence on family relations. Since these issues are central, our findings suggests that such family perspectives should be considered during genetic counselling in order to contribute to information spread, help family members cope with the increased risk, and motivate family members at risk to undergo surveillance.

Information needs of parents of infants diagnosed with cystic fibrosis: Results of a pilot study.

Science.gov (United States)

Edwards, Danielle J; Wicking, Kristin; Smyth, Wendy; Shields, Linda; Douglas, Tonia

2018-01-01

This study investigated the information needs, priorities and information-seeking behaviours of parents of infants recently diagnosed with cystic fibrosis (CF) following newborn screening, by piloting the 'Care of Cystic Fibrosis Families Survey'. The questionnaires were posted to eligible parents ( n = 66) attending CF clinics in hospitals in two Australian states; reply-paid envelopes were provided for return of the questionnaires. Twenty-six were returned (response rate 39.4%). The most common questions to which parents required answers during their initial education period related to what CF is, how it is treated and how to care for their child. Parents preferred face-to-face consultations to deliver information, and yet all reported using the Internet to search for more information at some point during the education period. Many parents provided negative feedback about being given their child's CF diagnosis via telephone. The timing, content and method of information delivery can all affect the initial education experience. We can deliver education to better suit the information needs and priorities for education of parents of infants recently diagnosed with CF. The Care of Cystic Fibrosis Families Survey was successfully piloted and recommendations for amendments have been made for use in a larger study across Australia.

Corporal punishment in rural Colombian families: prevalence, family structure and socio-demographic variables.

Science.gov (United States)

González, Martha Rocío; Trujillo, Angela; Pereda, Noemí

2014-05-01

To reveal the prevalence of corporal punishment in a rural area of Colombia and its correlates to family structure and other socio-demographic variables. A survey about childrearing and childcare was developed for this study, including a specific question about corporal punishment that was developed based on the Conflict Tactics Scale (CTS). Family structure was categorized as follows, based on previous literature: 'nuclear family,' 'single parent' family, 'extended family,' 'simultaneous family' and 'composed family.' Forty-one percent of the parents surveyed admitted they had used corporal punishment of their children as a disciplinary strategy. The type of family structure, the number of children living at home, the age of the children, the gender of the parent who answered the survey, and the age and gender of the partner were significant predictors of corporal punishment. Family structure is an important variable in the understanding of corporal punishment, especially in regard to nuclear families that have a large number of children and parents who started their parental role early in life. Copyright © 2013 Elsevier Ltd. All rights reserved.

Sibship size, birth order, family structure and childhood mental disorders.

Science.gov (United States)

Carballo, Juan J; García-Nieto, Rebeca; Alvarez-García, Raquel; Caro-Cañizares, Irene; López-Castromán, Jorge; Muñoz-Lorenzo, Laura; de Leon-Martinez, Victoria; Baca-García, Enrique

2013-08-01

The aim of this study was to determine the role that birth order, sibship size and family structure have as risk factors in the development of common childhood mental disorders. A case-control study design was conducted (N = 16,823). The group under study consisted of all those subjects who had consulted with a psychiatrist/psychologist and had received a clinical diagnosis at public mental health centres within the Region of Madrid (Spain), between 1980 and 2008. A multiple logistic regression was used to explore the independent association with each diagnosis: emotional disorders (ED) with onset specific to childhood, attention deficit hyperactivity disorder (ADHD), conduct disorder (CD), mental retardation (MR), and pervasive developmental disorder (PDD). Birth order and family structure significantly predicted the risk of being diagnosed with ED or ADHD. In addition, sibship size and sex predicted the risk of being diagnosed with a childhood mental disorder. We concluded that being the middle child and living with both biological parents appear to be protective factors against the development of ED or ADHD. Living in large families appears to increase the risk of receiving a CD, MR, or PDD diagnosis. Further research is warranted.

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…

Children of mothers diagnosed with serious mental illness: patterns and predictors of service use.

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Mowbray, Carol T; Lewandowski, Lisa; Bybee, Deborah; Oyserman, Daphna

2004-09-01

Children who have a parent diagnosed with a mental illness are at risk of psychiatric and behavioral problems; yet, these children do not necessarily receive needed services. Research has investigated correlates of child mental health service use, but not for these high-risk children. This study is part of an NIMH-funded, longitudinal investigation and describes child problems, service use, and predictors of service use for 506 children of 252 mothers diagnosed with serious mental illness. Mothers are primarily poor, minority women from urban areas. A multilevel-model approach is used to examine service use for multiple siblings in a family. More than one third of children had received services (from school or mental health agencies) in their lifetimes. Service use was predicted by child demographic characteristics (being male, non-African American, and older), social context variables (more negative life events, less financial satisfaction, and more parenting dissatisfaction), and maternal psychiatric variables (positively by high levels of case management receipt and affective diagnoses, negatively by maternal substance abuse history). In a subsample of "target children," mothers' rating of child behavior problems additionally predicted service use. Implications of results for research and intervention are discussed.

Internationalisation and performance in Spanish family SMES: The W-curve

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Marta Fernández-Olmos

2016-04-01

Full Text Available Previous studies have provided mixed evidence on the relationship between internationalisation and firm performance. We advance theoretically in this line of research by investigating the impact of the family dimension of a business on this relationship. Using a panel data analysis for the 2006–2011 period, we find empirically that Spanish family SMEs follow a W-curve. Our findings highlight the importance of differentiating family from non-family firms, and provide a potential explanation for the previous mixed evidence.

Periodontal disease in three siblings with familial neutropenia.

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Kirstilä, V; Sewón, L; Laine, J

1993-06-01

The periodontal status and treatment of three teenagers in a Finnish family with familial neutropenia is described. The mother was also diagnosed with neutropenia. At initial examination, the 15-year-old male and the 10-year-old female had severe periodontitis, whereas the 13-year-old male had oral ulcerations but no significant periodontal disease. The two siblings with periodontitis were treated and followed approximately 5 years. It was concluded that periodontal therapy including scaling, surgery, and use of antimicrobial agents can be successful in patients with familial neutropenia, and that such patients are not necessarily candidates for full mouth extraction. The role of granulocyte colony-stimulating factor in which was used in the treatment of these patients remains to be established.

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

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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.

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

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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 DM2, and all had a waist circumference >88 cm. In conclusion the perception of being at high risk for T2DM did not prevent women from having undetected T2DM. Many factors are likely to contribute to this, including the

Profiles of Social and Coping Resources in Families of Children with Autism Spectrum Disorder: Relations to Parent and Child Outcomes

Science.gov (United States)

Zaidman-Zait, Anat; Mirenda, Pat; Szatmari, Peter; Duku, Eric; Smith, Isabel M.; Vaillancourt, Tracy; Volden, Joanne; Waddell, Charlotte; Bennett, Teresa; Zwaigenbaum, Lonnie; Elsabaggh, Mayada; Georgiades, Stelios

2018-01-01

This study described empirically derived profiles of parents' personal and social coping resources in a sample of 207 families of children diagnosed with autism spectrum disorder. Latent Profile Analysis identified four family profiles based on socieoeconomic risk, coping strategy utilization, family functioning, available social supports, and…

A phylogeny-based revision of the family Luciferidae (Crustacea: Decapoda)

DEFF Research Database (Denmark)

Vereshchaka, Alexander L.; Olesen, Jørgen; Lunina, Anastasia A.

2016-01-01

different types of oceanic habitat. The phylogenetic analysis revealed monophyly of Luciferidae and the presence of two terminal robust clades within the family, which we treat as separate genera, Lucifer and Belzebub gen. nov. Morphological trends within Luciferidae are discussed, and diagnoses and keys...

Shared decision making in the management of children with newly diagnosed immune thrombocytopenia.

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Beck, Carolyn E; Boydell, Katherine M; Stasiulis, Elaine; Blanchette, Victor S; Llewellyn-Thomas, Hilary; Birken, Catherine S; Breakey, Vicky R; Parkin, Patricia C

2014-10-01

This study aimed to examine the treatment decision-making process for children hospitalized with newly diagnosed immune thrombocytopenia (ITP). Using focus groups, we studied children with ITP, parents of children with ITP, and health care professionals, inquiring about participants' experience with decision support and decision making in newly diagnosed ITP. Data were examined using thematic analysis. Themes that emerged from children were feelings of "anxiety, fear, and confusion"; the need to "understand information"; and "treatment choice," the experience of which was age dependent. For parents, "anxiety, fear, and confusion" was a dominant theme; "treatment choice" revealed that participants felt directed toward intravenous immune globulin (IVIG) for initial treatment. For health care professionals, "comfort level" highlighted factors contributing to professionals' comfort with offering options; "assumptions" were made about parental desire for participation in shared decision making (SDM) and parental acceptance of treatment options; "providing information" was informative regarding modes of facilitating SDM; and "treatment choice" revealed a discrepancy between current practice (directed toward IVIG) and the ideal of SDM. At our center, families of children with newly diagnosed ITP are not experiencing SDM. Our findings support the implementation of SDM to facilitate patient-centered care for the management of pediatric ITP.

Diagnosing Flu

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... Types Seasonal Avian Swine Variant Pandemic Other Diagnosing Flu Questions & Answers Language: English (US) Español Recommend on ... How do I know if I have the flu? Your respiratory illness might be the flu if ...

Late-diagnosed phenylketonuria in an eight-year-old boy with dyslexia and attention-deficit hyperactivity disorder.

Science.gov (United States)

Yıldız, Yılmaz; Dursun, Ali; Tokatlı, Ayşegül; Coşkun, Turgay; Sivri, Hatice Serap

2016-01-01

Phenylketonuria, previously a common cause of severe intellectual disability, is a metabolic disorder now promptly diagnosed and effectively treated thanks to newborn screening programs. Here, we report a male patient presenting with dyslexia and attention-deficit hyperactivity disorder, who was diagnosed with mild phenylketonuria at eight years of age. Earlier recognition and treatment before the establishment of irreversible brain damage would have resulted in better neurobehavioural outcomes. Classical phenylketonuria and milder phenotypes of phenylalanine hydroxylase deficiency need to be considered in the differential diagnosis of all cognitive and behavioural problems of unknown cause.

Emotional, developmental, and behavioral health of American children and their families: a report from the 2003 National Survey of Children's Health.

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Blanchard, Laura T; Gurka, Matthew J; Blackman, James A

2006-06-01

Recent children's health surveys have documented a high prevalence of emotional, developmental, and behavioral problems among children. Data from the 2003 National Survey of Children's Health provide new insights into these problems and their association with family function and community participation. These issues have become a current focus of the World Health Organization. Answers to questions of interest from the 2003 National Survey of Children's Health were reported using estimates and SEs of rates. Statistical comparisons of rates with chi2 tests at the 0.05 level were made when relevant. The most commonly diagnosed problems among children 6-17 years of age were learning disabilities (11.5%), attention-deficit/hyperactivity disorder (8.8%), and behavioral problems (6.3%); among preschoolers, speech problems (5.8%) and developmental delay (3.2%) were most common. One in 200 children was diagnosed with autism. In contrast, rates of parental concerns about emotional, developmental, or behavioral problems were much higher; for example, 41% of parents had concerns about learning difficulties and 36% about depression or anxiety. Children with developmental problems had lower self-esteem, more depression and anxiety, more problems with learning, missed more school, and were less involved in sports and other community activities. Their families experienced more difficulty in the areas of childcare, employment, parent-child relationships, and caregiver burden. The most recent National Survey of Children's Health mirrored results of previous surveys regarding rates of diagnosed emotional, developmental, and behavioral problems, including an escalating diagnosis of autism among children. Reported rates of parental concerns about these problems were much higher, suggesting possible underdiagnosis of children's problems. Children with chronic problems had diminished family functioning, more school absences, and less participation in community activities compared with

INS VNTR is not associated with childhood obesity in 1,023 families: a family-based study.

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Bouatia-Naji, Nabila; De Graeve, Franck; Brönner, Günter; Lecoeur, Cécile; Vatin, Vincent; Durand, Emmanuelle; Lichtner, Peter; Nguyen, Thuy T; Heude, Barbara; Weill, Jacques; Lévy-Marchal, Claire; Hebebrand, Johannes; Froguel, Philippe; Meyre, David

2008-06-01

Previous studies have described genetic associations of the insulin gene variable number tandem repeat (INS VNTR) variant with childhood obesity and associated phenotypes. We aimed to assess the contribution of INS VNTR genotypes to childhood obesity and variance of insulin resistance, insulin secretion, and birth weight using family-based design. Participants were either French or German whites. We used transmission disequilibrium tests (TDTs) for assessing binary traits and quantitative pedigree disequilibrium tests for assessing continuous traits. In contrast to previous findings, we did not observe any familial association with childhood obesity (T = 50%, P = 0.77) in the 1,023 families tested. In French obese children, INS VNTR did not associate with fasting insulin levels (P = 0.23) and class I allele showed only borderline association with increased insulin secretion index at 30 min (P = 0.03). INS VNTR did not associate with birth weight in obese children (P = 0.98) and TDT analyses in 350 French families with history of low birth weight (LBW) showed no association with this condition (P = 0.92). In summary, our study, the largest performed so far, does not support the previously reported associations between INS VNTR and childhood obesity, insulin resistance, or birth weight, and does not suggest any major role for this variant in modulating these traits.

Parent and family impact of autism spectrum disorders: a review and proposed model for intervention evaluation.

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Karst, Jeffrey S; Van Hecke, Amy Vaughan

2012-09-01

Raising a child with an autism spectrum disorder (ASD) can be an overwhelming experience for parents and families. The pervasive and severe deficits often present in children with ASD are associated with a plethora of difficulties in caregivers, including decreased parenting efficacy, increased parenting stress, and an increase in mental and physical health problems compared with parents of both typically developing children and children with other developmental disorders. In addition to significant financial strain and time pressures, high rates of divorce and lower overall family well-being highlight the burden that having a child with an ASD can place on families. These parent and family effects reciprocally and negatively impact the diagnosed child and can even serve to diminish the positive effects of intervention. However, most interventions for ASD are evaluated only in terms of child outcomes, ignoring parent and family factors that may have an influence on both the immediate and long-term effects of therapy. It cannot be assumed that even significant improvements in the diagnosed child will ameliorate the parent and family distress already present, especially as the time and expense of intervention can add further family disruption. Thus, a new model of intervention evaluation is proposed, which incorporates these factors and better captures the transactional nature of these relationships.

Parents of Children with Asperger Syndrome or with Learning Disabilities: Family Environment and Social Support

Science.gov (United States)

Heiman, Tali; Berger, Ornit

2008-01-01

The study examined the family environment and perceived social support of 33 parents with a child diagnosed with Asperger syndrome and 43 parents with a child with learning disability, which were compared to 45 parents of children without disabilities as a control group. Parents completed the Family Environment Scale and Social Support Scale…

The Impact of Autism Spectrum Disorders on the Family: A Qualitative Study of Mothers' Perspectives

Science.gov (United States)

Nealy, Christopher E.; O'Hare, Lindsey; Powers, Joelle D.; Swick, Danielle C.

2012-01-01

An estimated 730,000 Americans younger than age 21 in the United States have an autism spectrum disorder (ASD), and current trends predict 36,500 new diagnoses each year. Due to this rapid increase in ASD diagnoses, it is critical to understand the impact having a child with ASD has on a family's daily functioning to better coordinate services and…

TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families

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Sillence David

2011-06-01

Full Text Available Abstract Background The TRPV4 gene encodes a calcium-permeable ion-channel that is widely expressed, responds to many different stimuli and participates in an extraordinarily wide range of physiologic processes. Autosomal dominant brachyolmia, spondylometaphyseal dysplasia Kozlowski type (SMDK and metatropic dysplasia (MD are currently considered three distinct skeletal dysplasias with some shared clinical features, including short stature, platyspondyly, and progressive scoliosis. Recently, TRPV4 mutations have been found in patients diagnosed with these skeletal phenotypes. Methods and Results We critically analysed the clinical and radiographic data on 26 subjects from 21 families, all of whom had a clinical diagnosis of one of the conditions described above: 15 with MD; 9 with SMDK; and 2 with brachyolmia. We sequenced TRPV4 and identified 9 different mutations in 22 patients, 4 previously described, and 5 novel. There were 4 mutation-negative cases: one with MD and one with SMDK, both displaying atypical clinical and radiographic features for these diagnoses; and two with brachyolmia, who had isolated spine changes and no metaphyseal involvement. Conclusions Our data suggest the TRPV4 skeletal dysplasias represent a continuum of severity with areas of phenotypic overlap, even within the same family. We propose that AD brachyolmia lies at the mildest end of this spectrum and, since all cases described with this diagnosis and TRPV4 mutations display metaphyseal changes, we suggest that it is not a distinct entity but represents the mildest phenotypic expression of SMDK.

Diagnosis of hepatic iron overload: a family study illustrating pitfalls in diagnosing hemochromatosis.

Science.gov (United States)

Schranz, Melanie; Talasz, Heribert; Graziadei, Ivo; Winder, Thomas; Sergi, Consolato; Bogner, Klaus; Vogel, Wolfgang; Zoller, Heinz

2009-03-01

Recent identification of genetic variants in iron storage disease has changed the classification system and diagnostic algorithms for hemochromatosis. Clinical diagnosis of the disease requires phenotypic evidence of iron overload because the commonly disease-associated HFE genotypes have an incomplete penetrance. Furthermore, approximately 20% of patients with a clinical diagnosis of hemochromatosis have no disease-associated genotype, which underlines the importance of clear phenotypic criteria of hemochromatosis. A diagnosis of hemochromatosis cannot be made even in patients with liver cirrhosis simply on the basis of genetic testing that indicates that iron overload is the cause of the disease and not its consequence. Proper diagnosis requires integration of clinical presentation, family history, and the results of biochemical and histopathologic tests. Here we propose a rational diagnostic algorithm for hepatic iron overload syndromes and illustrate potential pitfalls by presenting a family study in a pedigree with rare HFE variants (H63D and E168Q), in cis on the same chromosome. Although the clinical suspicion of hemochromatosis was confirmed by histology, chemical analysis of liver tissue revealed a normal hepatic iron concentration, which is compatible with the genetic finding of 1 normal and 1 doubly mutated allele. In conclusion, clinical suspicion of hemochromatosis and elevated serum iron parameters should prompt HFE genotyping for C282Y and H63D. Should they be uninformative, further genetic tests should be recommended only if iron overload in liver tissue has been confirmed chemically.

A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family

Directory of Open Access Journals (Sweden)

Jia-Ze Tan

2016-01-01

Conclusions: We reported a SCCMS family of Chinese origin. In the family, classical clinical phenotype with phenotypic variability among different members was found. Genetic testing could help diagnose this rare disease.

Diagnosing extracranial atherosclerotic diseases with spiral CT

International Nuclear Information System (INIS)

Moran, C.J.; Vannier, M.W.; Erickson, K.K.; Broderick, D.F.; Kido, D.K.; Yoffie, R.L.

1991-01-01

This paper reports that this discovery study was performed to determine whether extracranial carotid artery plaques could be diagnosed with a new CT technique (spiral CT) that allows nondistorted three-dimensional (3D) reconstructions in the z axis. Twenty carotid arteries were examined with spiral CT in normal volunteers and in patients suspected of having atherosclerotic plaques in the extracranial carotid arteries. The Somatom Plus CT table was advanced at a constant rate, the x-ray tube was continuously rotated, and 3D data were continuously acquired. Sixty milliliters of nonionic contrast medium was injected intravenously previous to and during the acquisition of data. The carotid bifurcations were identified in all patients. Planar images, similar to conventional intraarterial angiograms, were routinely produced from the volumetric CT data

The Swedish Family-Cancer Database: Update, Application to Colorectal Cancer and Clinical Relevance

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Hemminki Kari

2005-01-01

Full Text Available Abstract The Swedish Family-Cancer Database has been used for almost 10 years in the study of familial risks at all common sites. In the present paper we describe some main features of version VI of this Database, assembled in 2004. This update included all Swedes born in 1932 and later (offspring with their biological parents, a total of 10.5 million individuals. Cancer cases were retrieved from the Swedish Cancer Registry from 1958-2002, including over 1.2 million first and multiple primary cancers and in situ tumours. Compared to previous versions, only 6.0% of deceased offspring with a cancer diagnosis lack any parental information. We show one application of the Database in the study of familial risks in colorectal adenocarcinoma, with defined age-group and anatomic site specific analyses. Familial standardized incidence ratios (SIRs were determined for offspring when parents or sibling were diagnosed with colon or rectal cancer. As a novel finding it was shown that risks for siblings were higher than those for offspring of affected parents. The excess risk was limited to colon cancer and particularly to right-sided colon cancer. The SIRs for colon cancer in age matched populations were 2.58 when parents were probands and 3.81 when siblings were probands; for right-sided colon cancer the SIRs were 3.66 and 7.53, respectively. Thus the familial excess (SIR-1.00 was more than two fold higher for right-sided colon cancer. Colon and rectal cancers appeared to be distinguished between high-penetrant and recessive conditions that only affect the colon, whereas low-penetrant familial effects are shared by the two sites. Epidemiological studies can be used to generate clinical estimates for familial risk, conditioned on numbers of affected family members and their ages of onset. Useful risk estimates have been developed for familial breast and prostate cancers. Reliable risk estimates for other cancers should also be seriously considered for

Optic Disc Drusen and Family History of Glaucoma-Results of a Patient-directed Survey.

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Gramer, Gwendolyn; Gramer, Eugen; Weisschuh, Nicole

2017-10-01

Prospective evaluation of family history (FH) of glaucoma and FH of optic disc drusen (ODD) in patients with sonographically confirmed ODD. A total of 87 patients with ODD interviewed all their first-degree and second-degree relatives using a detailed questionnaire on whether an ophthalmologist had diagnosed or excluded glaucoma or ocular hypertension (OH). Using a second questionnaire, 62 of these patients also provided information about ODD in their FH. Control groups for FH of glaucoma consisted of 2170 patients with glaucoma or OH evaluated with the same methods and identical questions for FH of glaucoma in a previous study, and of 176 healthy individuals without glaucoma or ODD who were interviewed on family history of glaucoma. Glaucoma in FH was significantly more frequent in patients with ODD with an incidence of 20.7% compared with healthy controls with an incidence of 2.8%, and half as frequent as in glaucoma patients with an incidence of 40%. ODD in FH were found in 9.7% of patients with ODD. As there is a high frequency of family history of glaucoma in patients with ODD, evaluation of FH of ODD and FH of glaucoma is essential in patients with ODD. Glaucoma in FH of ODD patients requires intraocular pressure monitoring and whenever deemed beneficial timely initiation of intraocular pressure-lowering therapy.

Hope, emotion regulation, and psychosocial well-being in patients newly diagnosed with cancer.

Science.gov (United States)

Peh, Chao Xu; Kua, Ee Heok; Mahendran, Rathi

2016-05-01

Patients newly diagnosed with cancer are often confronted with feelings of uncertainty and life threat. A significant proportion may report impairments in psychosocial well-being. Previous studies examining protective psychological factors such as hope and emotion regulation (ER) have yet to investigate these processes concurrently within a common self-regulation framework and/or focus on newly diagnosed patients. The present study aimed to examine how hope and ER may relate to psychosocial outcomes of patients newly diagnosed with cancer. The present study used a cross-sectional design with self-report questionnaires. Participants were newly diagnosed patients (N = 101) recruited from three cancer therapy clinics in a hospital. Patients completed measures of hope, ER (cognitive reappraisal and expressive suppression), and psychosocial well-being (life satisfaction and negative affectivity). Findings showed that (1) hope and reappraisal, but not suppression, were associated with well-being and (2) the interaction between hope and reappraisal was associated with well-being; reappraisal was not associated with well-being in high hope patients, while high reappraisal was associated with better well-being in low hope patients. Individual differences in hope and reappraisal appeared to be associated with psychosocial outcomes in newly diagnosed cancer patients. Hopeful thinking appeared to benefit patients' psychosocial well-being. In addition, an interaction effect between hope and reappraisal suggested that reappraisal as an ER strategy may be particularly adaptive for patients with low hope.

Examining the Relationship between Family Meal Frequency and Individual Dietary Intake: Does Family Cohesion Play a Role?

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Welsh, Ericka M.; French, Simone A.; Wall, Melanie

2011-01-01

Objective: To confirm previously reported associations between family meal frequency and dietary intake, and to examine family cohesion as a potential mediator of this relationship. Design: Cross-sectional observational study. Data collected at baseline via questionnaire. Setting: Randomized, controlled household weight gain prevention trial.…

Moya - Moya syndrome: Diagnose by means of magnetic resonance

International Nuclear Information System (INIS)

Borrero Borrero, Leonidas; Henao Gomez, Liliana; Hernandez Castro, John Jairo

1997-01-01

We present a case of moya-moya syndrome diagnosed by means of study of magnetic resonance angiography (MRA) in an eight-year old patient with Seckel syndrome and progressive neurological deficit of several years, characterized by left hemi paresis and gait limitation as well as microcephalus. Previous imaging studies included cerebral CT (CCT) that showed several infarctions, without affecting a particular vascular territory. The MRA study was carried out in a 1.5 t system. Besides confirming the CCT findings, it demonstrated characteristic images of the moya - moya syndrome. This is the first case published in Colombia

The CCC2000 Birth Cohort Study of Register-Based Family History of Mental Disorders and Psychotic Experiences in Offspring

DEFF Research Database (Denmark)

Jeppesen, Pia; Tidselbak Larsen, Janne; Clemmensen, Lars

2015-01-01

in childhood was predicted by a family history of mental disorder with psychosis rather than a family history of nonpsychotic mental disorder and whether this association differed by severity of PE. The study examined data on 1632 children from a general population birth cohort assessed at age 11-12 years...... by use of a semistructured interview covering 22 psychotic symptoms. The Danish national registers were linked to describe the complete family history of hospital-based psychiatric diagnoses. Uni- and multivariable logistic regressions were used to test whether a family history of any mental disorder...... with psychosis, or of nonpsychotic mental disorder, vs no diagnoses was associated with increased risk of PE in offspring (hierarchical exposure variable). The occurrence of PE in offspring was significantly associated with a history of psychosis among the first-degree relatives (adjusted relative risk [RR] = 3...

Communication Among Melanoma Family Members

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Bowen, Deborah J; Albrecht, Terrance; Hay, Jennifer; Eggly, Susan; Harris-Wei, Julie; Meischke, Hendrika; Burke, Wylie

2017-01-01

Interventions to improve communication among family members may facilitate information flow about familial risk and preventive health behaviors. This is a secondary analysis of the effects of an interactive website intervention aimed at increasing communication frequency and agreement about health risk among melanoma families. Participants were family units, consisting of one family member with melanoma identified from a previous research study (the case) and an additional first degree relative and a parent of a child 0–17. Family triads were randomized to receive access to the website intervention or to serve as control families. Family communication frequency and agreement about melanoma prevention behaviors and beliefs were measured at baseline and again at one year post randomization. Intervention participants of all three types significantly increased the frequency of communication to their first degree relatives (Parents, siblings, children; range =14–18 percentage points; all pcommunication about cancer risk. PMID:28248624

Benign colonic metaplasia at a previous stoma site in a patient without adenomatous polyposis.

Science.gov (United States)

Prouty, Megan; Patrawala, Samit; Vogt, Adam; Kelleher, Michael; Lee, Michael; Parker, Douglas C

2016-03-01

There are few reported cases of cutaneous intestinal metaplasia or primary adenocarcinoma arising at the ileostomy site following panproctocolectomy. These complications have been seen almost exclusively in patients with familial adenomatous polyposis and inflammatory bowel disease (IBD). However, benign intraepidermal colonic mucosa at a reversed ileostomy site in a patient without familial adenomatous polyposis or IBD has not been documented. We report a case of a 51-year-old female with a history of colonic adenocarcinoma who presented with pruritic, erythematous, scaly plaques on the right lower abdomen, present since reversal of her ileostomy in 2007. Skin biopsy revealed benign foci of colonic epithelium with no evidence of adenomatous change. Benign intraepidermal colonic mucosa was diagnosed based on histopathologic findings and immunohistochemistry. To our knowledge, this is the first case of intraepidermal benign colonic metaplasia forming in a patient following ostomy reversal. The case emphasizes the importance of patient education and physical examination of the stoma or stoma remnants for detection of unusual or changing lesions due to the risk for malignant transformation. It also demonstrates that benign colonic mucosa should be considered in the differential diagnosis when evaluating lesions near ileostomy sites, regardless of whether the patient has a history of familial adenomatous polyposis or IBD. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Correlation of antemortem diagnoses and postmortem diagnoses in ...

African Journals Online (AJOL)

Background: The postmortem examination is a veritable means of ascertaining the correct diagnoses. Over the years, there has been a severe drop in the number of requests for postmortem examination despite its numerous advantages and benefits. The study is aimed at showing the pivotal role of the autopsy in medical ...

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

Science.gov (United States)

Krupchanka, Dzmitry; Kruk, Nina; Sartorius, Norman; Davey, Silvia; Winkler, Petr; Murray, Joanna

2017-04-01

Mental health-related stigma affects people with mental disorders and their families. We aimed to investigate the experience of stigma among relatives of patients with schizophrenia in Belarus and formulate recommendations for anti-stigma interventions. We conducted and thematically analysed 20 interviews with relatives of people diagnosed with schizophrenia. Experience of discrimination, strategies to cope with it, and requests for interventions were examined. A number of themes related to the experience of stigma in the public life of relatives of people with schizophrenia were elicited in relation to: (1) mental health care (difficulties in contacting mental health professionals; in getting appropriate information; lack of alternatives to hospital treatment; absence of appropriate long-term care services); (2) employment of people living with schizophrenia and (3) contact with the police. Analysis of the strategies used to overcome difficulties revealed resignation and passive acceptance, self-reliance, and emotional containment during crises. Despite the passivity and scepticism in expressing needs, participants suggested a number of interventions that could reduce the burden of stigma. With respect to the public domain of life, substantial stigma and discrimination perceived by families of people living with schizophrenia in Belarus is associated with structural issues of the country's mental health care system. To reduce the stigma-related burden, action must be taken to: (1) educate and support families and (2) deal with structural issues, by reorganising mental health services to better meet the needs of the families of people diagnosed with schizophrenia, and by including them in decision making at all levels.

Familial Hodgkin lymphoma: pediatric onset in three out of five siblings

DEFF Research Database (Denmark)

Kamper, Peter; Kjeldsen, Eigil; Clausen, Niels

2005-01-01

Introduction: This is a report on FHL describing a family with five children of whom three were HLA class I genotype identical. Within a period of six years, these three siblings (one girl and two boys) were diagnosed with Epstein-Barr virus (EBV)-positive Hodgkin lymphoma (HL). Methods: In......-situ hybridisation for EBV-encoded small nuclear RNAs 1 and 2 (EBER-ISH) was performed by standard non-isotopic technique. Germline mutation analysis was performed on peripheral blood lymphocytes. Results: Two of the siblings were diagnosed at age 12, the other at age 5. All three cases were localised at diagnosis i...... on peripheral blood samples of all family members (the five siblings and their parents) did not reveal germline mutations. None of the children had overt immunodeficiency or autoimmune disease. Conclusions: Genetic factors may be involved in HL. In fact, FHL cases may share HLA haplotypes and siblings...

Family load estimates and risk factors of anxiety disorders in a nationwide three generation study

DEFF Research Database (Denmark)

Helenius, Dorte; Munk-Jørgensen, Povl; Steinhausen, Hans-Christoph

2014-01-01

region. Psychiatric diagnoses were also obtained for parents, siblings, and offspring. A family load component was obtained by using various mixed regression models. Anxiety disorders occurred significantly more often in case than in control families. Having a mother, father, or a sibling......The present study investigated how often anxiety disorders with different ages of onset occurred in affected families compared to control families. Furthermore, the study addressed the impact of sex, region of residence, year and month of birth, and parental age at birth. The sample included N=1373......, provide further and solid evidence for the family aggregation of anxiety disorders....

Impact of Family History Assessment on Communication with Family Members and Health Care Providers: A report from the Family Healthware™ Impact Trial (FHITr)

Science.gov (United States)

Wang, Catharine; Sen, Ananda; Plegue, Melissa; Ruffin, Mack T.; O'Neill, Suzanne M.; Rubinstein, Wendy S.; Acheson, Louise S.

2015-01-01

Objective This study examines the impact of Family Healthware™ on communication behaviors; specifically, communication with family members and health care providers about family health history. Methods A total of 3786 participants were enrolled in the Family Healthware™ Impact Trial (FHITr) in the United States from 2005-7. The trial employed a two-arm cluster-randomized design, with primary care practices serving as the unit of randomization. Using generalized estimating equations (GEE), analyses focused on communication behaviors at 6 month follow-up, adjusting for age, site and practice clustering. Results A significant interaction was observed between study arm and baseline communication status for the family communication outcomes (psfamily members about family history risk (OR=1.24, p=0.042) and actively collecting family history information at follow-up (OR=2.67, p=0.026). Family Healthware™ did not have a significant effect on family communication among those already communicating at baseline, or on provider communication, regardless of baseline communication status. Greater communication was observed among those at increased familial risk for a greater number of diseases. Conclusion Family Healthware™ prompted more communication about family history with family members, among those who were not previously communicating. Efforts are needed to identify approaches to encourage greater sharing of family history information, particularly with health care providers. PMID:25901453

The accuracy of family physicians' dementia diagnoses at different stages of dementia: a systematic review

NARCIS (Netherlands)

van den Dungen, Pim; van Marwijk, Harm W. M.; van der Horst, Henriëtte E.; Moll van Charante, Eric P.; Macneil Vroomen, Janet; van de Ven, Peter M.; van Hout, Hein P. J.

2012-01-01

Objective: Optimising care for dementia patients and their informal carers is imperative in light of the impending dementia epidemic. An important aspect of care is accurate recognition and diagnosis of dementia. The aim of this review was to estimate family physicians' diagnostic accuracy at the

The accuracy of family physicians' dementia diagnoses at different stages of dementia: a systematic review

NARCIS (Netherlands)

van den Dungen, P.; van Marwijk, H.W.J.; van der Horst, H.E.; van Charante, E.P.M.; Vroomen, J.M.; van de Ven, P.M.; van Hout, H.P.J.

2012-01-01

Objective Optimising care for dementia patients and their informal carers is imperative in light of the impending dementia epidemic. An important aspect of care is accurate recognition and diagnosis of dementia. The aim of this review was to estimate family physicians' diagnostic accuracy at the

Fatherhood: experiences of fathers of boys diagnosed with Duchenne Muscular Dystrophy.

Science.gov (United States)

Lucca, Silvana Aparecida de; Petean, Eucia Beatriz Lopes

2016-10-01

This study's aim was to understand the experience of being the father of a boy diagnosed with Duchenne Muscular Dystrophy (DMD). Eight fathers of 10-year-old or older boys diagnosed with DMD, living in RibeirãoPreto and surrounding cities participated in the study. Interviews included a semi-structured script and data were analyzed according to thematic content analysis. The results show that the confirmation of a DMD diagnosis shocked fathers and was mixed with sorrow, helplessness and hopelessness. Most fathers considered the illness of their child to be a mission sent by God, which helps to alleviate the pain and anguish caused by the disease. As the symptoms started manifesting, the fathers experienced losses that exposed them to great suffering and triggered an anticipatory mourning process. The fathers assigned to the disease the meaning of a mission to be accomplished and considered themselves to be "special fathers", which positively influenced their adaptation to the disease. Identifying and understanding how fathers experience fatherhood in the presence of a chronic disease/disability is essential to devising psychological counseling and care programs directed to fathers and their families.

Pathological gambling: comorbid psychiatric diagnoses in patients and their families.

Science.gov (United States)

Dannon, Pinhas N; Lowengrub, Katherine; Aizer, Anat; Kotler, Moshe

2006-01-01

Pathological gambling is a highly prevalent and disabling impulse control disorder. Recent studies have consistently demonstrated that pathological gamblers respond well to treatment with selective serotonin reuptake inhibitors, mood stabilizers and opioid antagonists. These findings have supported the observation that pathological gambling is associated with anxiety and mood spectrum disorders as well as addictive disorders. Fifty-two male pathological gamblers and their first-degree relatives (n=93) completed a semi-structured DSM-IV-based diagnostic interview as well as a series of data collection instruments including the South Oaks Gambling Scale, the Hamilton Rating Scale for Depression, the Hamilton Rating Scale for Anxiety, the Yale-Brown Obsessive-Compulsive Scale, and the Young Mania Rating Scale. The study subjects and their first-degree relative were compared to demographically matched normal controls (n=96). We found higher prevalence of alcohol, substance abuse, problematic gambling, depression, and anxiety disorders in the pathological gamblers and their first-degree relatives than in the control group. In particular, the scores on the Hamilton Rating Scale for Depression, the Hamilton Rating Scale for Anxiety, and the Yale-Brown Obsessive-Compulsive Scale were higher in the study group than in the control group. Our finding of a high prevalence of psychiatric comorbidity in pathological gamblers and their families raises the question of the proper classification of pathological gambling in the DSM-IV. Furthermore, the pattern of psychiatric disorders seen in the first-degree relatives can lead to new insights about the etiopathology of pathological gambling.

Family Smoking, Exposure to Secondhand Smoke at Home and Family Unhappiness in Children

Directory of Open Access Journals (Sweden)

Jian Jiu Chen

2015-11-01

Full Text Available Tobacco use adversely affects many aspects of well-being and is disliked by non-smokers. However, its association with family happiness is unknown. We investigated the associations of family unhappiness with smoking in family members and secondhand smoke (SHS exposure at home in Hong Kong children. In a school-based survey in 2012–2013, 1238 primary school students (mean age 8.5 years, standard deviation 0.9; 42.6% boys reported family smoking, SHS exposure at home and whether their families had any unpleasant experience caused by smoking or SHS in the past 30 days (tobacco-related unpleasant experience, and rated the overall level of happiness in their families (family unhappiness. Multivariable logistic regression was used to study the associations of tobacco-related unpleasant experience and family unhappiness with family smoking and SHS exposure at home. Tobacco-related unpleasant experience and family unhappiness were reported by 27.5% and 16.5% of students. Unpleasant experience was more strongly associated with family smoking than SHS exposure at home. Family unhappiness was associated with both family smoking (odds ratio 2.37; 95% confidence interval 1.51–3.71 and SHS exposure at home (1.82; 1.39–2.40. These results suggest a previously neglected possible impact of tobacco use on family happiness.

Adolescent depression, family psychopathology and parent/child relations: a case control study

OpenAIRE

Séguin, Monique; Manion, Ian; Cloutier, Paula; McEvoy, Lisa; Cappelli, Mario

2003-01-01

The objective of this study was to investigate family psychopathology and relationships between family members. Three groups of adolescents were interviewed: 1) currently depressed adolescents who have at least one parent who had/or is still experiencing a mood disorder, 2) currently depressed adolescents whose parents were never diagnosed with a mood disorder, 3) never-depressed control adolescents. Personal interview data was obtained from the proband, their parent(s) and one sibling. Findi...

Risk of progression from mild memory impairment to clinically diagnosable Alzheimer's disease in a Japanese community (from the Nakayama Study).

Science.gov (United States)

Sonobe, Naomi; Hata, Ryuji; Ishikawa, Tomohisa; Sonobe, Kantaro; Matsumoto, Teruhisa; Toyota, Yasutaka; Mori, Takaaki; Fukuhara, Ryuji; Komori, Kenjiro; Ueno, Shu-Ichi; Tanimukai, Satoshi; Ikeda, Manabu

2011-06-01

Memory impairment has been proposed as the most common early sign of Alzheimer's disease (AD). The aims of this work were to evaluate the risk of progression from mild memory impairment/no dementia (MMI/ND) to clinically diagnosable AD in a community-based prospective cohort and to establish the risk factors for progression from MMI/ND to AD in the elderly. Elderly subjects aged over 65 years were selected from the participants in the first Nakayama study. MMI/ND was defined as memory deficit on objective memory assessment, without dementia, impairment of general cognitive function, or disability in activities of daily living. A total of 104 MMI/ND subjects selected from 1242 community-dwellers were followed longitudinally for five years. During the five-year follow-up, 11 (10.6%) subjects were diagnosed with AD, five (4.8%) with vascular dementia (VaD), and six (5.8%) with dementia of other etiology. Logistic regression analysis revealed that diabetes mellitus (DM) and a family history of dementia (within third-degree relatives) were positively associated with progression to AD, while no factor was significantly associated with progression to VaD or all types of dementia. DM and a family history of dementia were significant risk factors for progression from MMI/ND to clinically diagnosable AD in the elderly in a Japanese community.

Predictors of unmet needs and psychological distress in adolescent and young adult siblings of people diagnosed with cancer.

Science.gov (United States)

McDonald, F E J; Patterson, P; White, K J; Butow, P; Bell, M L

2015-03-01

Predictors of psychological distress and unmet needs amongst adolescents and young adults (AYAs) who have a brother or sister diagnosed with cancer were examined. There were 106 AYAs (12-24 years old) who completed questionnaires covering demographics, psychological distress (Kessler 10), unmet needs (Sibling Cancer Needs Instrument) and family relationships (Family Relationship Index; Adult Sibling Relationship Questionnaire; Sibling Perception Questionnaire (SPQ)). Three models were analysed (demographic variables, cancer-specific variables and family functioning variables) using multiple linear regression to determine the role of the variables in predicting psychological distress and unmet needs. Unmet needs were higher for AYA siblings when treatment was current or a relapse had occurred. Higher scores on the SPQ-Interpersonal subscale indicating a perceived decrease in the quality of relationships with parents and others were associated with higher levels of distress and unmet needs. The age and gender of the AYA sibling, whether it was their brother or sister who was diagnosed with cancer, the age difference between them, the number of parents living with the AYA sibling, parental birth country, time since diagnosis, Family Relationship Index, Adult Sibling Relationship Questionnaire and the SPQ-Communication subscale did not significantly impact outcome variables. These results highlight the variables that can assist in identifying AYA siblings of cancer patients who are at risk and have a greater need for psychosocial assistance. Variables that may be associated with increased distress and unmet needs are reported to assist with future research. The results are also useful in informing the development of targeted psychosocial support for AYA siblings of cancer patients. Copyright © 2014 John Wiley & Sons, Ltd.

Deficits in Sequential Processing Manifest in Motor and Linguistic Tasks in a Multigenerational Family with Childhood Apraxia of Speech

Science.gov (United States)

Peter, Beate; Button, Le; Stoel-Gammon, Carol; Chapman, Kathy; Raskind, Wendy H.

2013-01-01

The purpose of this study was to evaluate a global deficit in sequential processing as candidate endophenotypein a family with familial childhood apraxia of speech (CAS). Of 10 adults and 13 children in a three-generational family with speech sound disorder (SSD) consistent with CAS, 3 adults and 6 children had past or present SSD diagnoses. Two…

Intermittent chronic neutropenia in a patient with familial Mediterranean fever.

Science.gov (United States)

Ganiou Tidjani, K; Ailal, F; Najib, J; Bellanné-Chantelot, C; Donadieu, J; Bousfiha, A A

2008-11-01

A 12-year-old daughter of consanguineous Moroccan parents was diagnosed with cyclic neutropenia, based on a combination of recurrent gingivostomatitis, a fluctuating neutrophil count, and several episodes of severe neutropenia. No ELA2 gene mutations were found. At age 19 years she presented with edema of the limbs, proteinuria and renal failure. Renal amyloidosis AA was diagnosed by biopsy. Gene mutations associated with family Mediterranean fever (FMF) were sought, and a homozygous mutation (M694V) was found in the MFEV gene. This is the novel finding of FMF that masqueraded as cyclic neutropenia. (c) 2008 Wiley-Liss, Inc.

Temporal Patterns of Cervical Cancer Screening Among Danish Women 55 Years and Older Diagnosed With Cervical Cancer

DEFF Research Database (Denmark)

Hammer, Anne; Hee, Lene; Blaakær, Jan

2018-01-01

OBJECTIVE: The aim of the study was to describe the screening history in postmenopausal women diagnosed with cervical cancer during 1990-2013 by age and screening period. MATERIALS AND METHODS: This hospital-based cohort study included women 55 years and older diagnosed with cervical cancer...... at Aarhus University Hospital, Denmark, during 1990-2013. Information on their previous history of cervical cancer screening was obtained from the Danish Pathology Databank. RESULTS: Overall, 47.0% (95% CI = 42.6-51.4) had no record of screening before their cervical cancer diagnosis. This proportion...

The Importance of Older Family Members in Providing Social Resources and Promoting Cancer Screening in Families with a Hereditary Cancer Syndrome

Science.gov (United States)

Ashida, Sato; Hadley, Donald W.; Goergen, Andrea F.; Skapinsky, Kaley F.; Devlin, Hillary C.; Koehly, Laura M.

2011-01-01

Purpose: This study evaluates the role of older family members as providers of social resources within familial network systems affected by an inherited cancer susceptibility syndrome. Design and Methods: Respondents who previously participated in a study that involved genetic counseling and testing for Lynch syndrome and their family network…

Family physician perspectives on primary immunodeficiency diseases

Directory of Open Access Journals (Sweden)

Jordan eOrange

2016-03-01

Full Text Available Primary immunodeficiency diseases (PID include over 250 diverse disorders. The current study assessed management of PID by family practice physicians. The American Academy of Allergy, Asthma, and Immunology Primary Immunodeficiency Committee and the Immune Deficiency Foundation conducted an incentivized mail survey of family practice physician members of the American Medical Association and the American Osteopathic Association in direct patient care. Responses were compared with subspecialist immunologist responses from a similar survey. Surveys were returned by 528 (of 4500 surveys mailed family practice physicians, of whom 44% reported following ≥1 patient with a PID. Selective immunoglobulin A (IgA, deficiency (21%, and chronic granulomatous disease (11% were most common and were followed by significantly more subspecialist immunologists (P<.0001. Use of intravenously administered Ig, and live viral vaccinations across PID was significantly different (P<.0001. Few family practice physicians were aware of professional guidelines for diagnosis and management of PID (4% vs. 79% of subspecialist immunologists, P<.0001. Family practice physicians will likely encounter patients with a PID diagnoses during their career. Differences in how family practice physicians and subspecialist immunologists manage patients with PID underscore areas where improved educational and training initiatives may benefit patient care.

Prostate cancer risk prediction based on complete prostate cancer family history.

Science.gov (United States)

Albright, Frederick; Stephenson, Robert A; Agarwal, Neeraj; Teerlink, Craig C; Lowrance, William T; Farnham, James M; Albright, Lisa A Cannon

2015-03-01

Prostate cancer (PC) relative risks (RRs) are typically estimated based on status of close relatives or presence of any affected relatives. This study provides RR estimates using extensive and specific PC family history. A retrospective population-based study was undertaken to estimate RRs for PC based on complete family history of PC. A total of 635,443 males, all with ancestral genealogy data, were analyzed. RRs for PC were determined based upon PC rates estimated from males with no PC family history (without PC in first, second, or third degree relatives). RRs were determined for a variety of constellations, for example, number of first through third degree relatives; named (grandfather, father, uncle, cousins, brothers); maternal, paternal relationships, and age of onset. In the 635,443 males analyzed, 18,105 had PC. First-degree RRs ranged from 2.46 (=1 first-degree relative affected, CI = 2.39-2.53) to 7.65 (=4 first-degree relatives affected, CI = 6.28-9.23). Second-degree RRs for probands with 0 affected first-degree relatives ranged from 1.51 (≥1 second-degree relative affected, CI = 1.47-1.56) to 3.09 (≥5 second-degree relatives affected, CI = 2.32-4.03). Third-degree RRs with 0 affected first- and 0 affected second-degree relatives ranged from 1.15 (≥1 affected third-degree relative, CI = 1.12-1.19) to 1.50 (≥5 affected third-degree relatives, CI = 1.35-1.66). RRs based on age at diagnosis were higher for earlier age at diagnoses; for example, RR = 5.54 for ≥1 first-degree relative diagnosed before age 50 years (CI = 1.12-1.19) and RR = 1.78 for >1 second-degree relative diagnosed before age 50 years, CI = 1.33, 2.33. RRs for equivalent maternal versus paternal family history were not significantly different. A more complete PC family history using close and distant relatives and age at diagnosis results in a wider range of estimates of individual RR that are potentially more accurate than RRs estimated

Does clinical exposure matter? Pilot assessment of patient visits in an urban family medicine residency program.

Science.gov (United States)

Iglar, Karl; Murdoch, Stuart; Meaney, Christopher; Krueger, Paul

2018-01-01

To determine the number of patient visits, patient demographic information, and diagnoses in an urban ambulatory care setting in a family medicine residency program, and assess the correlation between the number of patient visits and residents' in-training examination (ITE) scores. Retrospective analysis of data from resident practice profiles, electronic medical records, and residents' final ITE scores. Family medicine teaching unit in a community hospital in Barrie, Ont. Practice profile data were from family medicine residents enrolled in the program from July 1, 2013, to June 30, 2014, and electronic medical record and ITE data were from those enrolled in the program from July 1, 2010, to June 30, 2015. Number of patient visits, patient characteristics (eg, sex, age), priority topics addressed in clinic, resident characteristics (eg, age, sex, level of residency), and residents' final ITE scores. Between July 1, 2013, and June 30, 2014, there were 11 115 patient visits. First-year residents had a mean of 5.48 patient visits per clinic, and second-year residents had a mean of 5.98 patient visits per clinic. A Pearson correlation coefficient of 0.68 was found to exist between the number of patients seen and the final ITE scores, with a 10.5% difference in mean score between residents who had 1251 or more visits and those who had 1150 or fewer visits. Three diagnoses (ie, epistaxis, meningitis, and neck pain) deemed important for Certification by the College of Family Physicians of Canada were not seen by any of the residents in clinic. There is a moderate correlation between the number of patients seen by residents in ambulatory care and ITE scores in family medicine. It is important to assess patients' demographic information and diagnoses made in resident practices to ensure an adequate clinical experience. Copyright© the College of Family Physicians of Canada.

Conducting Family Nursing in Heart Failure outpatient clinics: Nurses experiences

DEFF Research Database (Denmark)

Voltelen, Barbara; Konradsen, Hanne; Østergaard, Birte

Aim: This study aimed to explore what was documented during structured Family Nursing (FN) conversations with patients diagnosed with Heart Failure and their families, and to gain knowledge about the nurses’ experiences conducting FN. Background: Patients with HF face many challenges, and so do...... throughout the FN intervention and a Focus group interview with 6 nurses who were conducting the conversations. Content analyses of all text material dealt with both manifest and latent content, and were analyzed through a deductive and inductive process. Results: Enabling bonding emerged as the overall...

Method of diagnosing a nuclear power plant

International Nuclear Information System (INIS)

Tamaoki, Tetsuo; Kawano, Koji

1983-01-01

Purpose : To exactly diagnose a nuclear power plant even upon occurrence of an abnormal state. Method : A statistical data calculation device prepares multidimensional vectors on every statistical amount for the unit of flowrate, pressure, temperature and neutron flux data in a nuclear power plant. A comparison-and-reference device compares them with the statistical amount rendered into multi-dimensional vectors corresponding to the generation of abnormality on every time in a normal operation for each of the fluctuation amount stored in a comparison and reference-value-store device. The diagnosis device performs diagnosis while using both of the standard pattern previously prepared and stored in the comparison and standard-value-store device and the pattern learnt and stored in the comparison and reference-value-store device. (Seki, T.)

How should we discuss genetic testing with women newly diagnosed with breast cancer? Design and implementation of a randomized controlled trial of two models of delivering education about treatment-focused genetic testing to younger women newly diagnosed with breast cancer

Directory of Open Access Journals (Sweden)

Watts Kaaren J

2012-07-01

Full Text Available Abstract Background Germline BRCA1 and BRCA2 mutation testing offered shortly after a breast cancer diagnosis to inform women’s treatment choices - treatment-focused genetic testing ‘TFGT’ - has entered clinical practice in specialist centers and is likely to be soon commonplace in acute breast cancer management, especially for younger women. Yet the optimal way to deliver information about TFGT to younger women newly diagnosed with breast cancer is not known, particularly for those who were not suspected of having a hereditary breast cancer syndrome prior to their cancer diagnosis. Also, little is known about the behavioral and psychosocial impact or cost effectiveness of educating patients about TFGT. This trial aims to examine the impact and efficiency of two models of educating younger women newly diagnosed with breast cancer about genetic testing in order to provide evidence for a safe and effective future clinical pathway for this service. Design/methods In this non-inferiority randomized controlled trial, 140 women newly diagnosed with breast cancer (aged less than 50 years are being recruited from nine cancer centers in Australia. Eligible women with either a significant family history of breast and/or ovarian cancer or with other high risk features suggestive of a mutation detection rate of > 10% are invited by their surgeon prior to mastectomy or radiotherapy. After completing the first questionnaire, participants are randomized to receive either: (a an educational pamphlet about genetic testing (intervention or (b a genetic counseling appointment at a family cancer center (standard care. Each participant is offered genetic testing for germline BRCA mutations. Decision-related and psychosocial outcomes are assessed over 12 months and include decisional conflict (primary outcome;uptake of bilateral mastectomy and/or risk-reducing salpingo-oophorectomy; cancer-specific- and general distress; family involvement in decision

Stress and coping of parents of young children diagnosed with bladder exstrophy.

Science.gov (United States)

Mednick, Lauren; Gargollo, Patricio; Oliva, Melisa; Grant, Rosemary; Borer, Joseph

2009-03-01

Previous studies have examined the psychological impact that living with bladder exstrophy has on patients. However, little is known about how parents of children diagnosed with this condition are affected. We examine how parents caring for children diagnosed with bladder exstrophy are impacted. An increased understanding of the stressors these parents face may lead to the development of appropriate parenting interventions, which may ultimately affect psychosocial and health outcomes in the child. All parents of children 10 years and younger treated for bladder exstrophy at our institution were selected from a centralized database. A total of 20 parents (65% of the eligible population) completed standardized questionnaires assessing pediatric specific parenting stress (Pediatric Inventory for Parents) and coping (Ways of Coping Questionnaire). Parents identified several common stressors (eg worrying about the long-term impact of the illness, helping the child with his/her hygiene needs) and overall reported using adaptive ways of coping (ie planful problem solving, seeking social support, positive reappraisal). However, when they experienced increased stress they reported using more nonadaptive ways of coping (ie escape/avoidance and distancing). Overall the findings of our study suggest that parents of children diagnosed with bladder exstrophy experience a significant amount of stress. In fact, parents in our study indicated experiencing similar frequency and difficulty of stress compared to parents of the same aged children diagnosed with type 1 diabetes. Increased stress can have negative consequences for parents and children. Future directions and implications of these findings are discussed.

Family demands, social support and caregiver burden in Taiwanese family caregivers living with mental illness: the role of family caregiver gender.

Science.gov (United States)

Hsiao, Chiu-Yueh

2010-12-01

The purpose of this study was to assess gender effects on family demands, social support and caregiver burden as well as to examine contributing factors of caregiver burden in caring for family members with mental illness. Providing continued care and support for people with mental illness is demanding and challenging. Findings of earlier caregiving studies on the role of caregiver gender in response to caregiver burden and caregiving-related factors have been inconsistent. Little research has been undertaken to examine gender effect on family demands, social support and caregiver burden in Taiwanese family caregivers of individuals with mental illness. Cross-sectional, descriptive correlation design. Data from 43 families, including at least one male and female family caregiver in each family, were analysed using descriptive statistics, principal component analysis and mixed linear modelling. Demographic data, Perceived Stress Scale, Perceived Social Support and Caregiver Burden Scale-Brief were used to collect data. Female family caregivers perceived less social support and experienced higher degrees of caregiver burden compared with male family caregivers. In contrast, no significant gender effect was associated with family demands. Family caregivers with greater family demands and less social support experienced higher degrees of caregiver burden. The results reinforced those of previously published studies that caregiver burden is highly prevalent among female family caregivers. Caregiver gender appears to be highly valuable for explaining family demands, social support and caregiver burden. Health care professionals should continue to collaborate with family caregivers to assess potential gender effects on available support and design gender-specific interventions to alleviate caregiver burden. © 2010 Blackwell Publishing Ltd.

Family Stress, Parenting Styles, and Behavioral Adjustment in Preschool-Age Adopted Chinese Girls

Science.gov (United States)

Tan, Tony Xing; Camras, Linda A.; Deng, Huihua; Zhang, Minghao; Lu, Zuhong

2012-01-01

This study seeks to extend previous research on family stress, parenting, and child adjustment to families with adopted Chinese children. In doing so, we also seek to strengthen inferences regarding the experiential underpinnings of previously obtained relationships among these variables by determining if they also occur in families where parents…

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…

The experiences of family members in the year following the diagnosis of a child or adolescent with cancer: a qualitative systematic review.

Science.gov (United States)

Mu, Pei-Fan; Lee, Mei-Yin; Sheng, Ching-Ching; Tung, Pei-Chi; Huang, Ling-Ya; Chen, Yi-Wei

2015-06-12

adolescent with cancer. It is critical to assess the family member’s level of preparedness in the face of the psychological stress associated with the potential loss of their healthy child. Health professionals should enhance family coping strategies in order to promote normal family life. This can be done by inspiring positive attitudes and empowerment aimed at caring for the child and helping the family to build the necessary health-related communication capacities in order to clarify the child’s condition. Clinical guideline suggestions for health professionals working with families of children or adolescent diagnosed with cancer within the first year following the diagnosis were identified. Health professionals must listen to and accept the emotions of shock, anger and loss by the family members who are facing the potential loss of their healthy child together with the upheaval in their lives and disruptions to their plans for the future. Health professionals should be encouraged to provide clear information to the whole family in relation to the treatment plan and caring strategies for the child. Nurses should provide family members with strategies to help with the normalization of their life and a return to their previous pre-cancer lifestyle. The medical team should exhibit professionalism and skills when treating the cancer in order to enhance the child’s and his/her family members’ trust and sense of safety in the medical care environment. Encouraging the family members of children with cancer to develop positive thinking and to plan for their future life should be a priority of the nursing care plan. The Joanna Briggs Institute.

Family diabetes matters: a view from the other side.

Science.gov (United States)

Samuel-Hodge, Carmen D; Cene, Crystal W; Corsino, Leonor; Thomas, Chelsea; Svetkey, Laura P

2013-03-01

Typically, chronic disease self-management happens in a family context, and for African American adults living with diabetes, family seems to matter in self-management processes. Many qualitative studies describe family diabetes interactions from the perspective of adults living with diabetes, but we have not heard from family members. To explore patient and family perspectives on family interactions around diabetes. Qualitative study using focus group methodology. PARTICIPANTS & APPROACH: We conducted eight audiotaped focus groups among African Americans (four with patients with diabetes and four with family members not diagnosed with diabetes), with a focus on topics of family communication, conflict, and support. The digital files were transcribed verbatim, coded, and analyzed using qualitative data analysis software. Directed content analysis and grounded theory approaches guided the interpretation of code summaries. Focus groups included 67 participants (81 % female, mean age 64 years). Family members primarily included spouses, siblings, and adult children/grandchildren. For patients with diabetes, central issues included shifting family roles to accommodate diabetes and conflicts stemming from family advice-giving. Family members described discomfort with the perceived need to police or "stand over" the diabetic family member, not wanting to "throw diabetes in their [relative's] face," perceiving their communications as unhelpful, and confusion about their role in diabetes care. These concepts generated an emergent theme of "family diabetes silence." Diabetes silence, role adjustments, and conflict appear to be important aspects to address in family-centered diabetes self-management interventions. Contextual data gathered through formative research can inform such family-centered intervention development.

Families of Sexual Minorities: Child Well-Being, Parenting Desires, and Expectations for Future Family Formation

OpenAIRE

Wondra, Danielle Leanne

2017-01-01

My dissertation project uses a multiple methodological approach—unfolding in three substantive chapters—to ask how gender, race/ethnicity, and socioeconomic status intersect with sexual identity to create unique experiences for sexual minorities in terms of parenting perspectives and expectations for family formation. Perspectives on family formation may differ for sexual minorities because they are socially positioned differently than heterosexual people, yet previous studies largely address...

Radiological evaluation of familial osteopetrosis

International Nuclear Information System (INIS)

Moon, Moo Chang; Kang, Shin Wha; Won, Jong Jin; Rhee, Song Joo; Choi, Ki Chul

1980-01-01

Authors found 16 patients with benign osteopetrosis out of 62 members of 4 families and analysed these patients clinically, radiologically, hematologically and biochemically at the Department of Radiology, Jeonbug National University Hospital from October 1977 to June 1980. The results are as follows; 1. We obtained that there is evidence of familial tendency in developing osteopetrosis because of the fact that 15 patients (94%) developed in 3 families and more than 2 patients in each family. In genetical point of view we suspected dominant trait of inheritance and could rule out recessive trait because patients were found in successive generations except for one family. There were no consangulneous marriages among the parents of these patients. 2. The majority of patients were adolescent or adult above 10 years of age when the disease was diagnosed. The incidence was identical in both sex. 3. No clinical symptoms and historical abnormalities were found in 11 patients (69%) and 5 patients (31%) showed only mild symptoms. Among 5 patients with clinical symptoms 3 patients showed pathologic fractures. In all 3 patients, fractures occurred only by mild trauma and affected sites were tubular bones and they were transverse type. 4. There were no specific relationship between ABO types and Rh reactions in developing osteopetrosis and no specific findings in hematological, biochemical and routine urinalysis. 5. The only diagnostic finding in most patients were the typical and specific radiological findings

Possible X linked congenital mitochondrial cardiomyopathy in three families.

OpenAIRE

Orstavik, K H; Skjörten, F; Hellebostad, M; Hågå, P; Langslet, A

1993-01-01

Familial cases of childhood congestive cardiomyopathy with X linked recessive inheritance and abnormalities of heart muscle mitochondria have been previously reported. We report here three families with possible X linked congestive cardiomyopathy and specific mitochondrial abnormalities. The heart disorder presented as endocardial fibroelastosis with neonatal death in two brothers in one family, and as heart failure and death in infancy in two brothers in the other two families. In one family...

Family PArtners in Lifestyle Support (PALS): Family-Based Weight Loss for African American Adults with Type 2 Diabetes

Science.gov (United States)

Samuel-Hodge, Carmen D.; Holder-Cooper, Judith C.; Gizlice, Ziya; Davis, Gwendolyn; Steele, Sonia P.; Keyserling, Thomas C.; Kumanyika, Shiriki K.; Brantley, Phillip J.; Svetkey, Laura P.

2016-01-01

Objective To develop and test a family-centered behavioral weight loss intervention for African American adults with type 2 diabetes. Methods In this randomized trial, dyads consisting of African American adult with overweight or obesity and type 2 diabetes (index participant) paired with a family partner with overweight or obesity, but not diagnosed with diabetes, were assigned in a 2:1 ratio to a 20-week special intervention (SI) or delayed intervention (DI) control group. The primary outcome was weight loss among index participants at 20 weeks follow-up. Results One hundred-eight participants (54 dyads – 36 (SI) and 18 (DI) dyads) were enrolled: 81% females; mean age, 51 years; mean weight,103 kg; and mean BMI, 37 kg/m2. At post-intervention, 96 participants (89%) returned for follow-up measures. Among index participants, mean difference in weight loss between groups was −5.0 kg, pfamily interactions, and dietary, physical activity, and diabetes self-care behaviors. SI family partners also had significant weight loss (−3.9 kg (SI) vs. −1.0 kg (DI) p=0.02). Conclusions A family-centered, behavioral weight loss intervention led to clinically significant short-term weight loss among family dyads. PMID:27911049

Familial Granuloma Annulare

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Zennure Takci

2015-09-01

Full Text Available Granuloma annulare is a benign, asymptomatic, relatively common, often self-limited chronic granulomatos disorder of the skin that can affect both children and adults. The primary skin lesion usually is grouped papules in an enlarging annular shape, with color ranging from flesh-colored to erythematous. The two most common types of granuloma annulare are localized, which typically is found on the lateral or dorsal surfaces of the hands and feet; and disseminated, which is widespread. Rarely, familial cases of granuloma annulare has been reported. Herein, we report two sisters with annular papules and plaques diagnosed as granuloma annulare with the clinical and pathological findings. [J Contemp Med 2015; 5(3.000: 189-191

Familial Aggregation of Non-Hodgkin's Lymphoma (NHL. A Case Report

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Loves Sandra SCM

2006-08-01

Full Text Available Abstract A family is reported in which three male siblings of Asian descent developed non-Hodgkin's lymphoma (NHL. Case 1 was diagnosed with indolent follicular lymphoma stage IIIA at age 45. Case 2 presented with large B-cell lymphoma stage IIB at age 56. Chromosomal investigation of the peripheral blood did not show abnormalities. Chemotherapy induced a complete remission. However, after a period of nearly ten years he developed acute myeloid leukaemia. Case 3 developed large B-cell lymphoma stage IVA at age 52. Cytogenetic analysis in peripheral blood was normal. Shared genetic and environmental risk factors remain to be identified in this family. Familial aggregation of NHL is uncommon. In some families, various forms of immunodeficiency have been found. In addition to coincidental clustering of cases, and rare cases explained by known tumour syndromes such as Li-Fraumeni (like syndrome, other familial cases may share as yet unknown genetic and/or environmental risk factors.

A phylogenetic analysis of rissooidean and cingulopsoidean families (Gastropoda: Caenogastropoda).

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Criscione, Francesco; Ponder, Winston Frank

2013-03-01

The Rissooidea is one of the largest and most diverse molluscan superfamilies, with 23 recognized Recent families including marine, freshwater and terrestrial members. The Cingulopsoidea are a group of three marine families previously included within the Rissooidea. A previous molecular analysis including two rissooideans and one cingulopsoidean, indicated the possibility that the Rissooidea is at least diphyletic. We use new molecular data to investigate the polyphyly of Rissooidea and test the monophyly of Cingulopsoidea with a greatly increased taxon set. This study includes the greatest sampling to date with 43 species of 14 families of Rissooidea and all families of Cingulopsoidea. Bayesian and maximum likelihood analyses of 16S and 28S show that there are two major clades encompassing taxa previously included in Rissooidea. These are the Rissooidea s.s. containing Rissoidae and Barleeiidae and the Truncatelloidea containing Anabathridae, Assimineidae, Falsicingulidae, Truncatellidae, Pomatiopsidae, Hydrobiidae s.l., Hydrococcidae, Stenothyridae, Calopiidae, Clenchiellidae, Caecidae, Tornidae, and Iravadiidae. Rissoidae is not monophyletic, with Lironoba grouping with Emblanda (Emblandidae) and Rissoina forming a separate clade with Barleeiidae. Iravadiidae is not monophyletic, with Nozeba being sister to the Tornidae. Tatea, usually included within Hydrobiidae, is distinct from that family and Nodulus, previously included in Anabathridae, groups with the hydrobiids. Copyright © 2012 Elsevier Inc. All rights reserved.

Impact of family history assessment on communication with family members and health care providers: A report from the Family Healthware™ Impact Trial (FHITr).

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Wang, Catharine; Sen, Ananda; Plegue, Melissa; Ruffin, Mack T; O'Neill, Suzanne M; Rubinstein, Wendy S; Acheson, Louise S

2015-08-01

This study examines the impact of Family Healthware™ on communication behaviors; specifically, communication with family members and health care providers about family health history. A total of 3786 participants were enrolled in the Family Healthware™ Impact Trial (FHITr) in the United States from 2005-7. The trial employed a two-arm cluster-randomized design, with primary care practices serving as the unit of randomization. Using generalized estimating equations (GEE), analyses focused on communication behaviors at 6month follow-up, adjusting for age, site and practice clustering. A significant interaction was observed between study arm and baseline communication status for the family communication outcomes (p'scommunicating at baseline and those who were not. Among participants who were not communicating at baseline, intervention participants had higher odds of communicating with family members about family history risk (OR=1.24, p=0.042) and actively collecting family history information at follow-up (OR=2.67, p=0.026). Family Healthware™ did not have a significant effect on family communication among those already communicating at baseline, or on provider communication, regardless of baseline communication status. Greater communication was observed among those at increased familial risk for a greater number of diseases. Family Healthware™ prompted more communication about family history with family members, among those who were not previously communicating. Efforts are needed to identify approaches to encourage greater sharing of family history information, particularly with health care providers. Copyright © 2015 Elsevier Inc. All rights reserved.

A Pilot of a Brief Positive Parenting Program on Children Newly Diagnosed with Autism Spectrum Disorder.

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Zand, Debra H; Bultas, Margaret W; McMillin, Stephen Edward; Halloran, Donna; White, Taryn; McNamara, Donnamarie; Pierce, Katherine J

2017-12-14

Disruptive behaviors can be of comparable or greater concern to parents than the core symptoms of Autism Spectrum Disorder (ASD). Provision of effective interventions to address these behaviors within the first year of initial diagnosis holds great potential for improving the child's, parents', and family's functioning. We piloted a four-session, manualized, positive parenting program on 21 parents of newly diagnosed children ages 2 through 12 years using a mixed methods design. Seventy-five percent of parents completed four sessions, with 100% reporting high levels of service satisfaction. Preliminary results indicated clinically and statistically significant reductions in child maladaptive behaviors, as well as improvements in parental and family functioning. Practitioners and parents identified several potential implementation adaptations, including additional sessions to focus on ASD education and real-time parent-child interactions. Taken as a whole, these data suggest that a brief positive parenting intervention may be a feasible way to improve child, parent, and family functioning during the first year of ASD diagnosis. Findings point to the need for additional research to determine treatment efficacy and to assist with the identification of moderators and mediators of effects. © 2017 Family Process Institute.

Patient accuracy of reporting on hereditary non-polyposis colorectal cancer-related malignancy in family members

DEFF Research Database (Denmark)

Katballe, Niels; Juul, Svend; Christensen, M.

2001-01-01

was rejected in three of 14 cases (false-positive rate 21 per cent). Furthermore, seven of 18 probands whose families met the Amsterdam criteria I or II after verification were identified by further exploration in families who, according to the probands, met weaker criteria (false-negative rate 39 per cent......). CONCLUSION: The present study suggests that family studies on HNPCC are not reliable unless the diagnoses of family members are verified from official sources. If endoscopic screening is offered entirely on the basis of unverified information from patients with colorectal cancer, there is a risk that a large...

Familial deletion 18p syndrome: case report

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Lemyre Emmanuelle

2006-07-01

Full Text Available Abstract Background Deletion 18p is a frequent deletion syndrome characterized by dysmorphic features, growth deficiencies, and mental retardation with a poorer verbal performance. Until now, five families have been described with limited clinical description. We report transmission of deletion 18p from a mother to her two daughters and review the previous cases. Case presentation The proband is 12 years old and has short stature, dysmorphic features and moderate mental retardation. Her sister is 9 years old and also has short stature and similar dysmorphic features. Her cognitive performance is within the borderline to mild mental retardation range. The mother also presents short stature. Psychological evaluation showed moderate mental retardation. Chromosome analysis from the sisters and their mother revealed the same chromosomal deletion: 46, XX, del(18(p11.2. Previous familial cases were consistent regarding the transmission of mental retardation. Our family differs in this regard with variable cognitive impairment and does not display poorer verbal than non-verbal abilities. An exclusive maternal transmission is observed throughout those families. Women with del(18p are fertile and seem to have a normal miscarriage rate. Conclusion Genetic counseling for these patients should take into account a greater range of cognitive outcome than previously reported.

[Children in family mediation: A practice model].

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Mayer, Stefan; Normann, Katrin

2006-01-01

The authors briefly describe the history of family mediation under the perspective of the role of the children in the process of mediation. They state that originally children were not directly included. But through empirical studies and different higher escalated families asking for help by mediation, the inclusion of children got an important issue in theory and practice. The discussion began with the question in which phases of the mediation process the children should be included - it went to the issue of the age of the children - and the authors propose to take the amount of escalation in the family as the most important point of reference to decide if and how the children should be included. They suggest to diagnose the loss of responsibility and autonomy of the parents on a nine level scale (from F. Glasl) with the parents and to decide and negotiate with them how the children will be included. They describe five different settings of inclusion of the children.

Determinants of Behavior Change Intention Among Heterosexual Thai Males Diagnosed with Sexually Transmitted Diseases.

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Thato, Ratsiri; Daengsaard, Ekkachai

2016-11-01

This study sought to identify factors associated with intention to change sexual practices among heterosexual Thai males diagnosed with sexually transmitted infections (STIs). STI clinic patients (n = 247) reported their sexual behaviors and condom use during the previous 3 months. STI and HIV knowledge, motivation to change sexual practices, and behavioral skills were assessed. Then, self-reported behavior change intention, including consistent condom use, reducing number of sexual partners, not using drugs and alcohol when having sex, and refusal of condomless sex, was examined. Consistent condom use in the past 3 months by Thai males diagnosed with STIs was low across all types of sexual partners (lover 13.8%, casual partner 14.9%, and sex worker 2.5%). Risk reduction self-efficacy (p behavior change intention. Significant predictors of behavior change intention were risk reduction self-efficacy (p behavior change intention variance. Intervention aimed at enhancing motivation and behavioral skills to adopt preventive behaviors should be developed to prevent recurrent STIs, including HIV infection, among heterosexual Thai males diagnosed with STIs.

Molecular Analysis of 9 Unrelated Families Presenting With Juvenile and Chronic GM1 Gangliosidosis

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Marcella B. Baptista MSc

2016-04-01

Full Text Available GM1 gangliosidosis is a rare autosomal recessive lysosomal storage disorder with high prevalence in Brazil (1:17 000. In the present study, we genotyped 10 individuals of 9 unrelated families from the States of São Paulo and Minas Gerais diagnosed with the juvenile and chronic forms of the disease. We found the previously described p.Thr500Ala mutation in 8 alleles; c.1622-1627insG and p.Arg59His in 2 alleles (the latter also segregating with c.1233+8T>C; and p.Phe107Leu, p.Leu173Pro, p.Arg201His, and p.Gly311Arg in 1 allele each. Two mutations (p.Ile354Ser and p.Thr384Ser and 1 neutral alteration (p.Pro152= are described for the first time. All patients presented as compound heterozygotes. A discussion on genotype–phenotype correlation is also presented.

Hereditary Spherocytosis Unmasked by Human Parvovirus B19 Induced Aplastic Crisis in a Family

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Samin Alavi

2015-09-01

Full Text Available Human parvovirus (HPV B19 induced aplastic crisis in a family leading to the diagnosis of hereditary spherocytosis (HS is a very rare condition being barely reported in the literature. We herein report a 4-year-old girl, her brother, and their mother who all presented with progressive pallor and jaundice after a febrile illness. The HPV B19 was diagnosed using polymerase chain reaction (PCR and positive serology for specific anti-HPV B19 IgM. They were further diagnosed with having HS. The clinical importance of this report is that in the case of an abrupt onset of unexplained severe anemia and jaundice, one should consider underlying hemolytic anemias mostly hereditary spherocytosis complicated by HPV B19 aplastic crisis. Herein, we report the occurrence of this condition, simultaneously in three members of a family. The distinguished feature of this report is that all affected family members developed some degrees of transient pancytopenia, not only anemia, all simultaneously in the course of their disease.

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...

Factors influencing common diagnoses made during first-opinion small-animal consultations in the United Kingdom.

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Robinson, N J; Dean, R S; Cobb, M; Brennan, M L

2016-09-01

It is currently unclear how frequently a diagnosis is made during small-animal consultations or how much of a role making a diagnosis plays in veterinary decision-making. Understanding more about the diagnostic process will help direct future research towards areas relevant to practicing veterinary surgeons. The aim of this study was to determine the frequency with which a diagnosis was made, classify the types of diagnosis made (and the factors influencing these) and determine which specific diagnoses were made for health problems discussed during small-animal consultations. Data were gathered during real-time direct observation of small-animal consultations in eight practices in the United Kingdom. Data collected included characteristics of the consultation (e.g. consultation type), patient (e.g. breed), and each problem discussed (e.g. new or pre-existing problem). Each problem discussed was classified into one of the following diagnosis types: definitive; working; presumed; open; previous. A three-level multivariable logistic-regression model was developed, with problem (Level 1) nested within patient (Level 2) nested within consulting veterinary surgeon (Level 3). Problems without a previous diagnosis, in cats and dogs only, were included in the model, which had a binary outcome variable of definitive diagnosis versus no definitive diagnosis. Data were recorded for 1901 animals presented, and data on diagnosis were gathered for 3192 health problems. Previous diagnoses were the most common diagnosis type (n=1116/3192; 35.0%), followed by open (n=868/3192; 27.2%) then definitive (n=660/3192; 20.7%). The variables remaining in the final model were patient age, problem history, consultation type, who raised the problem, and body system affected. New problems, problems in younger animals, and problems raised by the veterinary surgeon were more likely to result in a definitive diagnosis than pre-existing problems, problems in older animals, and problems raised by

A family study of pathological gambling.

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Black, Donald W; Monahan, Patrick O; Temkit, M'Hamed; Shaw, Martha

2006-03-30

The cause of pathological gambling (PG) is unknown. The current study was conducted to determine whether PG is familial, and to examine patterns of familial aggregation of psychiatric disorder. To that end, 31 case probands with DSM-IV PG and 31 control probands were recruited and interviewed regarding their first degree relatives (FDRs). Available and willing FDRs were directly interviewed with structured instruments of known reliability, and best estimate final diagnoses were blindly assigned for 193 case and 142 control relatives over age 18 years. The results were analyzed using logistic regression by the method of generalized estimating equations. The lifetime rates of PG and "any gambling disorder" were significantly greater among the relatives of case probands (8.3% and 12.4%, respectively) than among the control relatives (2.1% and 3.5%, respectively) (OR=3.36 for "any gambling disorder"). PG relatives also had significantly higher lifetime rates of alcohol disorders, "any substance use disorder," antisocial personality disorder (ASPD), and "any mental disorder". "Any gambling disorder," alcohol disorder, and "any substance use disorder" remained significant after a conservative Bonferroni correction. Interestingly, PG families were significantly larger than control families. We conclude that gambling disorders are familial and co-aggregate with substance misuse. The data are also suggestive that PG co-aggregates with ASPD. Further research on the heritability of PG is warranted.

Children's cancer camps: a sense of community, a sense of family.

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Laing, Catherine M; Moules, Nancy J

2014-05-01

Childhood cancer is a family affair, and each year in Canada, approximately 1,400 children and adolescents under the age of 20 are diagnosed with cancer. Innumerable challenges accompany this diagnosis, and in recognition of the stress of childhood cancer, children's cancer camps arose in the 1970s to help children and their families escape the rigidity and severity of cancer treatment. Very little is known about these cancer camps, and to that end, a philosophical hermeneutic study was conducted to understand the meaning of children's cancer camps for the child with cancer and the family. Six families were interviewed to bring understanding to this topic. While the research included findings related to the concept of play, fit and acceptance, storytelling, and grief, this paper will detail the finding related to the solidarity of the community--the "camp family"--as one that creates intense, healing bonds.

'It is hard for mums to put themselves first': how mothers diagnosed with breast cancer manage the sociological boundaries between paid work, family and caring for the self.

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Mackenzie, Catherine Ruth

2014-09-01

This paper aims to increase understanding of how mothers diagnosed with breast cancer while in the paid workforce experience and manage their multiple demands of taking care of themselves, their children and their paid work. In-depth, semi-structured interviews were conducted with 32 women who were mothers of dependent children and in the paid workforce at the time of their breast cancer diagnosis. The sample includes women living in urban and rural Australia. The study found that after a breast cancer diagnosis, participants tended to prioritise their health and wellbeing over paid work. Yet dominance of gendered identity meant that they tended to place the needs of family, especially children, above their own health and wellbeing. The key factors that influenced mothers' decisions to continue in, return to, or leave paid work after a breast cancer diagnosis included: a change in perspective regarding what was important in their lives; level of support from the workplace and home; the extent to which participating in paid work was a financial necessity; the extent to which their identity was connected to paid work, and; ongoing level of pain or fatigue. The paper concludes that using the sociological concepts of the fateful moment, boundary maintenance and a feminist ethic of care produces a more nuanced understanding of women's participation in paid work after breast cancer than examining paid workforce participation, or unpaid responsibilities and mothering, separately. The nature of the permeability or malleability of boundaries between work, family and taking care of the self affects women's participation in paid work during and/or after breast cancer treatment. Increased boundary permeability or malleability brought about more by cooperation than conflict facilitated positive experiences of re-negotiating boundaries, whereas increased permeability or malleability brought about more by conflict than cooperation created difficulties for women in finding an

Sleep patterns as predictors for disability pension due to low back diagnoses: a 23-year longitudinal study of Finnish twins.

Science.gov (United States)

Ropponen, Annina; Silventoinen, Karri; Hublin, Christer; Svedberg, Pia; Koskenvuo, Markku; Kaprio, Jaakko

2013-06-01

Impaired sleep patterns are known to be associated with many chronic conditions and ultimately they may lead to permanent work incapacity. Less is known about the associations between sleep patterns and cause-specific disability pensions, such as low back diagnoses, or whether familial factors (genetics and family environment) can affect the associations. The objective of this study was to investigate sleep patterns as predictors of disability pension due to low back diagnoses with a 23-year follow-up. A prospective cohort study with comprehensive mailed questionnaires about sleep patterns, e.g., quality and length of sleep in 1975 and 1981. Follow-up from the national disability pension register data until 2004. Not applicable. There were 18,979 individuals (7,722 complete twin pairs) born before 1958. Cox proportional hazards regression was used to calculate hazard ratios (HR) with 95% confidence intervals (95% CI). Disability pension due to low back diagnoses had been granted to 467 individuals during the follow-up. Sleeping moderately well (HR 1.25; 95% CI 1.02, 1.53), or fairly poorly/poorly (HR 2.05; 95% CI 1.53, 2.73) at baseline predicted a significantly higher risk for disability pension. Stable patterns of sleeping either fairly well (HR 1.29; 95% CI 1.01, 1.64), or stably fairly poorly/poorly (HR 2.29; 95% CI 1.49, 3.52) between 1975 and 1981 were associated with a higher risk as compared to a stable pattern of sleeping well. Furthermore, a decrease in quality of sleep from 1975 to 1981 was associated (HR 1.34; 95% CI 1.03, 1.76) with an increased risk of disability pension. Sleep quality and changes in sleep quality appear to be early predictors for disability pension due to low back diagnoses independently from other confounding factors.

The prevalence of diagnosed chronic conditions and multimorbidity in Australia: A method for estimating population prevalence from general practice patient encounter data.

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Christopher Harrison

Full Text Available To estimate the prevalence of common chronic conditions and multimorbidity among patients at GP encounters and among people in the Australian population. To assess the extent to which use of each individual patient's GP attendance over the previous year, instead of the average for their age-sex group, affects the precision of national population prevalence estimates of diagnosed chronic conditions.A sub-study (between November 2012 and March 2016 of the Bettering the Evaluation and Care of Health program, a continuous national study of GP activity. Each of 1,449 GPs provided data for about 30 consecutive patients (total 43,501 indicating for each, number of GP attendances in previous year and all diagnosed chronic conditions, using their knowledge of the patient, patient self-report, and patient's health record.Hypertension (26.5% was the most prevalent diagnosed chronic condition among patients surveyed, followed by osteoarthritis (22.7%, hyperlipidaemia (16.6%, depression (16.3%, anxiety (11.9%, gastroesophageal reflux disease (GORD (11.3%, chronic back pain (9.7% and Type 2 diabetes (9.6%. After adjustment, we estimated population prevalence of hypertension as 12.4%, 9.5% osteoarthritis, 8.2% hyperlipidaemia, 8.0% depression, 5.8% anxiety and 5.2% asthma. Estimates were significantly lower than those derived using the previous method. About half (51.6% the patients at GP encounters had two or more diagnosed chronic conditions and over one third (37.4% had three or more. Population estimates were: 25.7% had two or more diagnosed chronic conditions and 15.8% had three or more.Of the three approaches we have tested to date, this study provides the most accurate method for estimation of population prevalence of chronic conditions using the GP as an expert interviewer, by adjusting for each patient's reported attendance.

Utilization of gene mapping and candidate gene mutation screening for diagnosing clinically equivocal conditions: a Norrie disease case study.

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Chini, Vasiliki; Stambouli, Danai; Nedelea, Florina Mihaela; Filipescu, George Alexandru; Mina, Diana; Kambouris, Marios; El-Shantil, Hatem

2014-06-01

Prenatal diagnosis was requested for an undiagnosed eye disease showing X-linked inheritance in a family. No medical records existed for the affected family members. Mapping of the X chromosome and candidate gene mutation screening identified a c.C267A[p.F89L] mutation in NPD previously described as possibly causing Norrie disease. The detection of the c.C267A[p.F89L] variant in another unrelated family confirms the pathogenic nature of the mutation for the Norrie disease phenotype. Gene mapping, haplotype analysis, and candidate gene screening have been previously utilized in research applications but were applied here in a diagnostic setting due to the scarcity of available clinical information. The clinical diagnosis and mutation identification were critical for providing proper genetic counseling and prenatal diagnosis for this family.

Diagnosing Diabetes and Learning about Prediabetes

Science.gov (United States)

... Listen En Español Diagnosing Diabetes and Learning About Prediabetes There are several ways to diagnose diabetes. Each ... or equal to 200 mg/dl What is Prediabetes? Before people develop type 2 diabetes, they almost ...

Evaluation of an online family history tool for identifying hereditary and familial colorectal cancer.

Science.gov (United States)

Kallenberg, F G J; Aalfs, C M; The, F O; Wientjes, C A; Depla, A C; Mundt, M W; Bossuyt, P M M; Dekker, E

2017-09-21

Identifying a hereditary colorectal cancer (CRC) syndrome or familial CRC (FCC) in a CRC patient may enable the patient and relatives to enroll in surveillance protocols. As these individuals are insufficiently recognized, we evaluated an online family history tool, consisting of a patient-administered family history questionnaire and an automated genetic referral recommendation, to facilitate the identification of patients with hereditary CRC or FCC. Between 2015 and 2016, all newly diagnosed CRC patients in five Dutch outpatient clinics, were included in a trial with a stepped-wedge design, when first visiting the clinic. Each hospital continued standard procedures for identifying patients at risk (control strategy) and then, after a predetermined period, switched to offering the family history tool to included patients (intervention strategy). After considering the tool-based recommendation, the health care provider could decide on and arrange the referral. Primary outcome was the relative number of CRC patients who received screening or surveillance recommendations for themselves or relatives because of hereditary CRC or FCC, provided by genetic counseling. The intervention effect was evaluated using a logit-linear model. With the tool, 46/489 (9.4%) patients received a screening or surveillance recommendation, compared to 35/292 (12.0%) in the control group. In the intention-to-treat-analysis, accounting for time trends and hospital effects, this difference was not statistically significant (p = 0.58). A family history tool does not necessarily assist in increasing the number of CRC patients and relatives enrolled in screening or surveillance recommendations for hereditary CRC or FCC. Other interventions should be considered.

Identification of Variants in RET and IHH Pathway Members in a Large Family With History of Hirschsprung Disease.

Science.gov (United States)

Sribudiani, Y; Chauhan, R K; Alves, M M; Petrova, L; Brosens, E; Harrison, C; Wabbersen, T; de Graaf, B M; Rügenbrink, T; Burzynski, G; Brouwer, R W W; IJcken, W F J van; Maas, S M; de Klein, A; Osinga, J; Eggen, B J L; Burns, A J; Brooks, A S; Shepherd, I T; Hofstra, R M W

2018-03-27

Hirschsprung disease (HSCR) is an inherited congenital disorder characterized by absence of enteric ganglia in the distal part of the gut. Variants in ret proto-oncogene (RET) have been associated with up to 50% of familial and 35% of sporadic cases. We searched for variants that affect disease risk in a large, multi-generational family with history of HSCR in a linkage region previously associated with the disease (4q31.3-q32.3) and exome wide. We performed exome sequencing analyses of a family in the Netherlands with 5 members diagnosed with HSCR and 2 members diagnosed with functional constipation. We initially focused on variants in genes located in 4q31.3-q32.3. However, we also performed an exome-wide analysis in which known HSCR or HSCR-associated gene variants predicted to be deleterious were prioritized for further analysis. Candidate genes were expressed in HEK293, COS-7, and Neuro-2a cells and analyzed by luciferase and immunoblot assays. Morpholinos were designed to target exons of candidate genes and injected into 1-cell stage zebrafish embryos. Embryos were allowed to develop and stained for enteric neurons. Within the linkage region, we identified 1 putative splice variant in the LPS responsive beige-like anchor protein gene (LRBA). Functional assays could not confirm its predicted effect on mRNA splicing or on expression of the mab-21 like 2 gene (MAB21L2), which is embedded in LRBA. Zebrafish that developed following injection of the lrba morpholino had a shortened body axis and subtle gut morphological defects, but no significant reduction in number of enteric neurons compared with controls. Outside the linkage region, members of 1 branch of the family carried a previously unidentified RET variant or an in-frame deletion in the glial cell line derived neurotrophic factor gene (GDNF), which encodes a ligand of RET. This deletion was located 6 base pairs before the last codon. We also found variants in the indian hedgehog gene (IHH) and its mediator

The Consistency Between Clinical and Electrophysiological Diagnoses

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Esra E. Okuyucu

2009-09-01

Full Text Available OBJECTIVE: The aim of this study was to provide information concerning the impact of electrophysiological tests in the clinical management and diagnosis of patients, and to evaluate the consistency between referring clinical diagnoses and electrophysiological diagnoses. METHODS: The study included 957 patients referred to the electroneuromyography (ENMG laboratory from different clinics with different clinical diagnoses in 2008. Demographic data, referring clinical diagnoses, the clinics where the requests wanted, and diagnoses after ENMG testing were recorded and statistically evaluated. RESULTS: In all, 957 patients [644 (67.3% female and 313 (32.7% male] were included in the study. Mean age of the patients was 45.40 ± 14.54 years. ENMG requests were made by different specialists; 578 (60.4% patients were referred by neurologists, 122 (12.8% by orthopedics, 140 (14.6% by neurosurgeons, and 117 (12.2% by physical treatment and rehabilitation departments. According to the results of ENMG testing, 513 (53.6% patients’ referrals were related to their referral diagnosis, whereas 397 (41.5% patients had normal ENMG test results, and 47 (4.9% patients had a diagnosis that differed from the referring diagnosis. Among the relation between the referral diagnosis and electrophysiological diagnosis according to the clinics where the requests were made, there was no statistical difference (p= 0.794, but there were statistically significant differences between the support of different clinical diagnoses, such as carpal tunnel syndrome, polyneuropathy, radiculopathy-plexopathy, entrapment neuropathy, and myopathy based on ENMG test results (p< 0.001. CONCLUSION: ENMG is a frequently used neurological examination. As such, referrals for ENMG can be made to either support the referring diagnosis or to exclude other diagnoses. This may explain the inconsistency between clinical referring diagnoses and diagnoses following ENMG

GIANT CELL AORTITIS DIAGNOSED WITH PET/CT - PARANEOPLASTIC SYNDROME?

Science.gov (United States)

Bakula, Marija; Cerovec, Mislav; Mayer, Miroslav; Huić, Dražen; Anić, Branimir

2016-05-01

Vasculitides are heterogenic group of autoimmune connective tissue diseases which often present difficulties in early diagnosing. Giant cell arteritis is vasculitis of large and medium arteries. It predominantly presents with symptoms of affection of the external carotid artery branches. Furthermore, the only symptoms can be constitutional. In clinical practice, vasculitides are sometimes considered as paraneoplastic, but no definite association with malignancies has been established and the mechanisms are still debated. The gold standard for diagnosing giant cell arteritis is a positive temporal artery biopsy, but the results can often be false negative. Additionally, more than half of the patients have aorta and its main branches affected. Considering aforementioned, imaging studies are essential in confirming large-vessel vasculitis, amongst which is highly sensitive PET/CT. We present the case of a 70-year-old female patient with constitutional symptoms and elevated sedimentation rate. After extensive diagnostic tests, she was admitted to our Rheumatology unit. Aortitis of the abdominal aorta has been confirmed by PET/CT and after the introduction of glucocorticoids the disease soon went into clinical and laboratory remission. Shortly after aortitis has been diagnosed, lung carcinoma was revealed of which the patient died. At the time of the comprehensive diagnostics, there was no reasonable doubt for underlying malignoma. To the best of our knowledge, there are no recent publications concerning giant cell arteritis and neoplastic processes in the context of up-to-date non-invasive diagnostic methods (i.e. PET/CT). In the light of previous research results, we underline that the sensitivity of PET/CT is not satisfactory when estimating cancer dissemination in non-enlarged lymph nodes and that its value can at times be overestimated.

Use of bayesian operations for diagnosing accidents

International Nuclear Information System (INIS)

Kang, K.M.; Jae, M.; Suh, K.Y.

2005-01-01

In complex systems, it is necessary to model a logical representation of the overall system interaction with respect to the individual subsystems. Operators are allowed to follow EOPs (Emergency Operating Procedures) when reactor tripped because of accidents. But, it's very difficult to diagnose accidents and find out appropriate procedures to mitigate current accidents in a given short time. Even if they diagnose accidents, it also has possibility to misdiagnose. TMI accident is a good example of operators' errors. Methodology using Influence Diagrams has been developed and applied for representing the dependency behaviors and uncertain behaviors of complex systems. An example to diagnose the accidents such as SLOCA and SGTR with similar symptoms has been introduced. From the constructed model, operators could diagnose accidents at any states of accidents. This model can offer the information about accidents with given symptoms. This model might help operators to diagnose correctly and rapidly. It might be very useful to support operators to reduce human error. Also, from this study, it is applicable to diagnose other accidents with similar symptoms and to analyze causes of reactor trip. (authors)

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…

Duplicate origin of the posterior communicating artery diagnosed by magnetic resonance angiography.

Science.gov (United States)

Uchino, Akira; Kamiya, Kouhei; Suzuki, Chihiro

2013-10-01

Extremely rarely, a posterior communicating artery (PCoA) of "duplicate origin" occurs when two branches of the PCoA arise separately from the supraclinoid segment of the internal carotid artery (ICA) and quickly fuse to form an arterial ring. Three such cases previously reported were described as "fenestration." We report the case of this rare variation diagnosed by magnetic resonance angiography and discuss the differentiation of PCoA of duplicate origin from PCoA fenestration, supraclinoid ICA fenestration, and hyperplastic anterior choroidal artery.

Register-based data of psychosocial working conditions and occupational groups as predictors of disability pension due to musculoskeletal diagnoses: a prospective cohort study of 24,543 Swedish twins.

Science.gov (United States)

Ropponen, Annina; Samuelsson, Åsa; Alexanderson, Kristina; Svedberg, Pia

2013-09-16

Occupations and psychosocial working conditions have rarely been investigated as predictors of disability pension in population-based samples. This study investigated how occupational groups and psychosocial working conditions are associated with future disability pension due to musculoskeletal diagnoses, accounting for familial factors in the associations. A sample of 24,543 same-sex Swedish twin individuals was followed from 1993 to 2008 using nationwide registries. Baseline data on occupations were categorized into eight sector-defined occupational groups. These were further used to reflect psychosocial working conditions by applying the job strain scores of a Job Exposure Matrix. Cox proportional hazard ratios (HR) were estimated. During the 12-year (average) follow-up, 7% of the sample was granted disability pension due to musculoskeletal diagnoses. Workers in health care and social work; agriculture, forestry and fishing; transportation; production and mining; and the service and military work sectors were two to three times more likely to receive a disability pension than those in the administration and management sector. Each single unit decrease in job demands and each single unit increase in job control and social support significantly predicted disability pension. Individuals with high work strain or an active job had a lower hazard ratio of disability pension, whereas a passive job predicted a significantly higher hazard ratio. Accounting for familial confounding did not alter these results. Occupational groups and psychosocial working conditions seem to be independent of familial confounding, and hence represent risk factors for disability pension due to musculoskeletal diagnoses. This means that preventive measures in these sector-defined occupational groups and specific psychosocial working conditions might prevent disability pension due to musculoskeletal diagnoses.

At få en diagnose

DEFF Research Database (Denmark)

Olesen, Birgitte Ravn; Jansbøl, Kirsten

I dette hæfte ligger fokus på døvblindblevnes fortællinger om at have et handicap uden at kende sin diagnose og om at håndtre at få diagnosen RP eller Usher syndrom. Det er karakteristisk for fortællingerne, at det har stor betydning - hvornår i livet, man får sin diagnose - under hvilke...

Family Functioning in Attention Deficit Hyperactivity Disorder with or without Oppositional Defiant Disorder/Conduct Disorder Comorbidity

Directory of Open Access Journals (Sweden)

Sebla Gokce Imren

2013-02-01

Full Text Available Purpose: The purpose of the study was to examine family functioning in attention deficit and hyperactivity disorder (ADHD and ADHD comorbid with oppositional defiant disorder ( ODD or conduct disorder ( CD. Method: Forty nine children and adolescents diagnosed with ADHD and forty eight controls (aged 8-16 years were assesed with Kiddie Schedule for Affective Disorders and Schizophrenia Present and Lifetime Version; Parents completed the McMaster Family Assessment Device (FAD for family functioning which asseses 6 dimensions of family functioning ( problem solving, communication, behavior control, affective involvement, affective responsiveness, and roles and also includes a general functioning subscale. Results: 34.7 % of the ADHD children had comorbid psychiatric disorders, and the major comorbidity was ODD (24.5 %. ADHD families scored high at the level of “unhealthy functioning “ in the problem solving, roles, affective involvement, general functioning, and behavior control subscales of FAD. Besides, problem solving behaviour and general functioning were significantly poorer than control families and they had more difficulties in area of roles. When DEHB was comorbid with ODD or DB, all areas of family functioning as measured by FAD were scored high at the level of “unhealthy functioning “. Additionally, general functioning and affective responsiveness were significantly poorer than ADHD without ODD or DB comorbidity. Discussion: Recent studies revealed that ADHD and especially ADHD comorbid with ODD or DB may disrupt family functioning in many ways. In this study, the families of children and adolescents with ADHD and ADHD comorbid with ODD or DB had poorer family functioning in most of the subscales of FAD. Treatment of children and adolescents diagnosed with ADHD especially comorbid with ODD or DB should include parental treatment and intervention addressing parental skills, and family functioning. [Cukurova Med J 2013; 38(1.000: 22-30

Emergency diagnosis of cancer and previous general practice consultations: insights from linked patient survey data.

Science.gov (United States)

Abel, Gary A; Mendonca, Silvia C; McPhail, Sean; Zhou, Yin; Elliss-Brookes, Lucy; Lyratzopoulos, Georgios

2017-06-01

Emergency diagnosis of cancer is common and aetiologically complex. The proportion of emergency presenters who have consulted previously with relevant symptoms is uncertain. To examine how many patients with cancer, who were diagnosed as emergencies, have had previous primary care consultations with relevant symptoms; and among those, to examine how many had multiple consultations. Secondary analysis of patient survey data from the 2010 English Cancer Patient Experience Survey (CPES), previously linked to population-based data on diagnostic route. For emergency presenters with 18 different cancers, associations were examined for two outcomes (prior GP consultation status; and 'three or more consultations' among prior consultees) using logistic regression. Among 4647 emergency presenters, 1349 (29%) reported no prior consultations, being more common in males (32% versus 25% in females, P <0.001), older (44% in ≥85 versus 30% in 65-74-year-olds, P <0.001), and the most deprived (35% versus 25% least deprived, P = 0.001) patients; and highest/lowest for patients with brain cancer (46%) and mesothelioma (13%), respectively ( P <0.001 for overall variation by cancer site). Among 3298 emergency presenters with prior consultations, 1356 (41%) had three or more consultations, which were more likely in females ( P <0.001), younger ( P <0.001), and non-white patients ( P = 0.017) and those with multiple myeloma, and least likely for patients with leukaemia ( P <0.001). Contrary to suggestions that emergency presentations represent missed diagnoses, about one-third of emergency presenters (particularly those in older and more deprived groups) have no prior GP consultations. Furthermore, only about one-third report multiple (three or more) consultations, which are more likely in 'harder-to-suspect' groups. © British Journal of General Practice 2017.

CT-MPR invaluable in diagnosing odontogenic maxillary sinusitis

International Nuclear Information System (INIS)

Aoki, Hideaki; Shimazu, Kaoru; Kamada, Morito; Shiroyama, Akihiro; Mouri, Daisuke; Yamashita, Masashi; Kawasaki, Yasunori; Koseki, Takakazu; Mouri, Manabu

2001-01-01

In everyday examination, it is usual to encounter odontogenic maxillary sinusitis patients. Odontogenic maxillary sinusitis is generally best diagnosed by dental X-ray imaging. Many medical facilities not having a dental X-ray unit use coronal computed tomography (CT) images to diagnose odontogenic maxillary sinusitis. Coronal CT imaging causes artifacts, however due to dental prosthesises. Computed tomography-Multiplanar reformation (CT-MPR) imaging has proved useful in evaluating the paranasal sinus because it is not influenced by dental prosthesises. We evaluated the usefulness of CT-MPR for diagnosing odontogenic maxillary sinusitis by retrospectively analyzing 16 patients, with the following results. We couldn't diagnose all cases of odontogenic maxillary sinusitis in posteroanterior and Waters projection images. Panoramic radiography is needed to diagnose odontogenic maxillary sinusitis. Dental X-ray imaging missed some cases, but all cases were diagnosed by CT-MPR imaging, giving a 100% diagnosestic rate. CT-MPR imaging is thus at least as valuable or better than dental X-ray imaging in diagnosing odontogenic maxillary sinusitis. (author)

Validation studies of nursing diagnoses in neonatology

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Pavlína Rabasová

2016-03-01

Full Text Available Aim: The objective of the review was the analysis of Czech and foreign literature sources and professional periodicals to obtain a relevant comprehensive overview of validation studies of nursing diagnoses in neonatology. Design: Review. Methods: The selection criterion was studies concerning the validation of nursing diagnoses in neonatology. To obtain data from relevant sources, the licensed professional databases EBSCO, Web of Science and Scopus were utilized. The search criteria were: date of publication - unlimited; academic periodicals - full text; peer-reviewed periodicals; search language - English, Czech and Slovak. Results: A total of 788 studies were found. Only 5 studies were eligible for content analysis, dealing specifically with validation of nursing diagnoses in neonatology. The analysis of the retrieved studies suggests that authors are most often concerned with identifying the defining characteristics of nursing diagnoses applicable to both the mother (parents and the newborn. The diagnoses were validated in the domains Role Relationship; Coping/Stress tolerance; Activity/Rest, and Elimination and Exchange. Diagnoses represented were from the field of dysfunctional physical needs as well as the field of psychosocial and spiritual needs. The diagnoses were as follows: Parental role conflict (00064; Impaired parenting (00056; Grieving (00136; Ineffective breathing pattern (00032; Impaired gas exchange (00030; and Impaired spontaneous ventilation (00033. Conclusion: Validation studies enable effective planning of interventions with measurable results and support clinical nursing practice.

A Rare Case of Malonic Aciduria Diagnosed by Newborn Screening in Qatar

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Mamatha Ramaswamy

2017-03-01

Full Text Available Malonic aciduria is a rare autosomal recessive organic acid disorder. With the widespread use of tandem mass spectrometry for analysis of the amino acid/acylcarnitine profile on dried blood spots for newborn screening (NBS, this condition can be readily diagnosed and can be included in the organic acid screen in NBS programs. In Qatar, we report the first case of an asymptomatic baby screened and diagnosed with malonic aciduria through NBS. This patient has a genetic variant of malonyl-CoA decarboxylase that has not been previously reported in the literature. This condition should be differentiated from a similar disorder, combined malonic and methylmalonic aciduria. The clinical phenotype of malonic aciduria is variable and the pathophysiology is not fully understood. There is no established guidance or recommendations regarding the appropriate treatment regimen, dietary therapy or regular follow-up of these patients. Most available evidence for treatment is based on a single study or case report.

[The mutation analysis of PAH gene and prenatal diagnosis in classical phenylketonuria family].

Science.gov (United States)

Yan, Yousheng; Hao, Shengju; Yao, Fengxia; Sun, Qingmei; Zheng, Lei; Zhang, Qinghua; Zhang, Chuan; Yang, Tao; Huang, Shangzhi

2014-12-01

To characterize the mutation spectrum of phenylalanine hydroxylase (PAH) gene and perform prenatal diagnosis for families with classical phenylketonuria. By stratified sequencing, mutations were detected in the exons and flaking introns of PAH gene of 44 families with classical phenylketonuria. 47 fetuses were diagnosed by combined sequencing with linkage analysis of three common short tandem repeats (STR) (PAH-STR, PAH-26 and PAH-32) in the PAH gene. Thirty-one types of mutations were identified. A total of 84 mutations were identified in 88 alleles (95.45%), in which the most common mutation have been R243Q (21.59%), EX6-96A>G (6.82%), IVS4-1G>A (5.86%) and IVS7+2T>A (5.86%). Most mutations were found in exons 3, 5, 6, 7, 11 and 12. The polymorphism information content (PIC) of these three STR markers was 0.71 (PAH-STR), 0.48 (PAH-26) and 0.40 (PAH-32), respectively. Prenatal diagnosis was performed successfully with the combined method in 47 fetuses of 44 classical phenylketonuria families. Among them, 11 (23.4%) were diagnosed as affected, 24 (51.1%) as carriers, and 12 (25.5%) as unaffected. Prenatal diagnosis can be achieved efficiently and accurately by stratified sequencing of PAH gene and linkage analysis of STR for classical phenylketonuria families.

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. © 2012 The Authors. New Phytologist © 2012 New Phytologist Trust.

A structural model of family empowerment for families of children with special needs.

Science.gov (United States)

Han, Kuem Sun; Yang, Yunkyung; Hong, Yeong Seon

2018-03-01

To explain and predict family empowerment in families of children with special needs. Family empowerment of families of children with special needs can be explained using the Double ABCX model. Although constant stressors such as parenting stress and family demands can have negative effects on family empowerment, family resources and parenting efficacy can mediate the negative effect through effective coping strategies. A cross-sectional research design was employed. A survey was conducted with 240 parents of children with special needs. Upon exclusion of four responses deemed inadequate to the statistics process, 236 responses were selected for the analysis. Based on the items used in the previous research, we used the scale of family demands 38, the scale of parenting stress 24, the scale of parenting efficacy 37, the scale of pattern of organisation 30, the scale of communication process 16 and the scale of family empowerment 32. In families of children with special needs, parenting stress had a negative effect on parenting efficacy and family resources, namely, pattern of organisation and communication process. Family needs had a positive effect on parenting efficacy. Parenting stress and family demands influenced family empowerment through parenting efficacy and family resources (pattern of organisation and communication process), while parenting efficacy contributed to family empowerment. This study empirically analysed the usefulness of the Double ABCX model in predicting family empowerment. Family resource factors (organisation pattern and communication process) and perception or judgement factors (such as parenting efficacy) were found to mediate the negative impact of various stressors experienced by families of children with special needs. The study findings suggest that clinical practice and management should focus on providing efficient intervention methods to lower stress in families of children with special needs. Reinforcing factors contributing to

Family physicians understanding about Mantoux test: A survey from a high endemic TB country

Directory of Open Access Journals (Sweden)

Ali Niloufer

2010-05-01

Full Text Available Abstract Background Tuberculosis is a global health emergency and is a big challenge to diagnose and manage it. Family physicians being first contact health persons should be well competent to diagnose and manage the patients with tuberculosis. Aims This study was aimed to assess the level of understanding about Mantoux Test amongst Family Physicians in Karachi, Pakistan and to determine the difference of level of understanding by gender and number of tuberculosis patients seen in a month. Methods A cross sectional survey was conducted among 200 Family Physicians working in Karachi; the largest city and economic hub of Pakistan. Family Physicians who attended Continuous Medical Education sessions were approached after taking consent. Pre-tested, self administered questionnaire was filled consisting of: basic demographic characteristics, questions regarding knowledge about Mantoux Test, its application and interpretation. Data of 159 questionnaires was analyzed for percentages, as rest were incomplete. Chi square test was used to calculate the difference of understanding levels between various groups. Results Almost two thirds of respondents were males and above 35 years of age. Majority of Family Physicians were private practitioners and seeing more than five tuberculosis patients per month. Overall, a big gap was identified about the knowledge of Mantoux Test among study participants. Only 18.8% of Family Physicians secured Excellent (≥ 80% correct responses. This poor level of understanding was almost equally distributed in all comparative groups (Male = 20.8% versus Female = 15.9%; p - 0.69 and (Seen Conclusion Our study revealed an overall major deficit in understanding and interpretation of Mantoux Test amongst Family Physicians which needs to be addressed. Continues Medical Education sessions for Family Physicians should be organized in regular basis for upgrading their knowledge in this regards.

Familial epilepsy in Algeria: Clinical features and inheritance profiles.

Science.gov (United States)

Chentouf, Amina; Dahdouh, Aïcha; Guipponi, Michel; Oubaiche, Mohand Laïd; Chaouch, Malika; Hamamy, Hanan; Antonarakis, Stylianos E

2015-09-01

To document the clinical characteristics and inheritance pattern of epilepsy in multigeneration Algerian families. Affected members from extended families with familial epilepsy were assessed at the University Hospital of Oran in Algeria. Available medical records, neurological examination, electroencephalography and imaging data were reviewed. The epilepsy type was classified according to the criteria of the International League Against Epilepsy and modes of inheritance were deduced from pedigree analysis. The study population included 40 probands; 23 male (57.5%) and 17 female subjects (42.5%). The mean age of seizure onset was 9.5 ± 6.1 years. According to seizure onset, 16 patients (40%) had focal seizures and 20 (50%) had generalized seizures. Seizure control was achieved for two patients (5%) for 10 years, while 28 (70%) were seizure-free for 3 months. Eleven patients (27.5%) had prior febrile seizures, 12 were diagnosed with psychiatric disorders and four families had syndromic epilepsy. The consanguinity rate among parents of affected was 50% with phenotypic concordance observed in 25 families (62.5%). Pedigree analysis suggested autosomal dominant (AD) inheritance with or without reduced penetrance in 18 families (45%), probable autosomal recessive (AR) inheritance in 14 families (35%), and an X-linked recessive inheritance in one family. This study reveals large Algerian families with multigenerational inheritance of epilepsy. Molecular testing such as exome sequencing would clarify the genetic basis of epilepsy in some of our families. Copyright © 2015 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

Complex dental anomalies in a belatedly diagnosed cleidocranial dysplasia patient

International Nuclear Information System (INIS)

Lu, Hui; Zeng, Bing Hui; Yu, Dong Sheng; Jing, Xiang Yi; Hu, Bin; Zhao, Wei; Wang, Yi Ming

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

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.

Familial Aggregation of Aortic Valvular Stenosis

DEFF Research Database (Denmark)

Martinsson, Andreas; Li, Xinjun; Zöller, Bengt

2017-01-01

component has been described for a subset of cases with a bicuspid valve, data are limited on the overall familial aggregation of this disease. METHODS AND RESULTS: Contemporary information on 6 117 263 Swedish siblings, of which 13 442 had a clinical diagnosis of AS, was collected from the nationwide...... Swedish Multi-Generation Register and the National Patient Register. A total of 4.8% of AS cases had a sibling history of AS. Having at least 1 sibling with AS was associated with a hazard ratio of 3.41 (95% confidence interval, 2.23-5.21) to be diagnosed with AS in an adjusted model. Individuals with >1...... sibling with AS had an exceptionally high risk (hazard ratio, 32.84) but were uncommon (34 siblings from 11 sibships). In contrast, spouses of subjects with AS were only slightly more likely to be diagnosed with AS compared with subjects without spousal AS (hazard ratio 1.16 for husbands and 1...

A Study on Family Opinions Concerning Services Provided in Special Education Centres

Science.gov (United States)

Ugurlu, Necla Isikdogan; Kayhan, Nilay

2017-01-01

This study is to diagnose and evaluate children with different special needs medically and educationally and, as a result of those evaluations, to identify families' expectations, opinions and suggestions concerning the special education process, services and the functioning of special education institutions. The mothers of five children who…

Longitudinal Impact of a Family Critical Time Intervention on Children in High-Risk Families Experiencing Homelessness: A Randomized Trial.

Science.gov (United States)

Shinn, Marybeth; Samuels, Judith; Fischer, Sean N; Thompkins, Amanda; Fowler, Patrick J

2015-12-01

A randomized trial compared effects of a Family Critical Time Intervention (FCTI) to usual care for children in 200 newly homeless families in which mothers had diagnosable mental illness or substance problems. Adapted from an evidence-based practice to prevent chronic homelessness for adults with mental illnesses, FCTI combines housing and structured, time-limited case management to connect families leaving shelter with community services. Families were followed at five time points over 24 months. Data on 311 children-99 ages 1.5-5 years, 113 ages 6-10 years, and 99 ages 11-16 years-included mother-, teacher-, and child-reports of mental health, school experiences, and psychosocial well-being. Analyses used hierarchical linear modeling to investigate intervention effects and changes in child functioning over time. Referral to FCTI reduced internalizing and externalizing problems in preschool-aged children and externalizing for adolescents 11-16. The intervention led to declines in self-reported school troubles for children 6-10 and 11-16. Both experimental and control children in all age groups showed reductions in symptoms over time. Although experimental results were scattered, they suggest that FCTI has the potential to improve mental health and school outcomes for children experiencing homelessness.

Size-dependent modification of asteroid family Yarkovsky V-shapes

Science.gov (United States)

Bolin, B. T.; Morbidelli, A.; Walsh, K. J.

2018-04-01

Context. The thermal properties of the surfaces of asteroids determine the magnitude of the drift rate cause by the Yarkovsky force. In the general case of Main Belt asteroids, the Yarkovsky force is indirectly proportional to the thermal inertia, Γ. Aim. Following the proposed relationship between Γ and asteroid diameter D, we find that asteroids' Yarkovsky drift rates might have a more complex size dependence than previous thought, leading to a curved family V-shape boundary in semi-major axis, a, vs. 1/D space. This implies that asteroids are drifting faster at larger sizes than previously considered decreasing on average the known ages of asteroid families. Methods: The V-Shape curvature is determined for >25 families located throughout the Main Belt to quantify the Yarkovsky size-dependent drift rate. Results: We find that there is no correlation between family age and V-shape curvature. In addition, the V-shape curvature decreases for asteroid families with larger heliocentric distances suggesting that the relationship between Γ and D is weaker in the outer MB possibly due to homogenous surface roughness among family members.

Psychosocial working conditions, occupational groups, and risk of disability pension due to mental diagnoses: a cohort study of 43,000 Swedish twins.

Science.gov (United States)

Samuelsson, Åsa; Ropponen, Annina; Alexanderson, Kristina; Svedberg, Pia

2013-07-01

The aim of this study was to investigate associations between psychosocial working conditions, occupational groups defined by sector, and disability pension (DP) with mental diagnoses while accounting for familial confounding. A prospective population-based cohort study was conducted, including all Swedish twins who, in January 1993, were living and working in Sweden and not on old-age pension or DP (N=42 715). The twins were followed from 1993-2008 regarding DP. Data on DP, exposures, and covariates were obtained from national registries. Cox proportional hazards regression models with hazard ratios (HR) and 95% confidence intervals (95% CI) were constructed for the whole cohort, and for discordant twin pairs. The associations for the whole cohort between DP with mental diagnoses and (i) job demands (HR 1.23, 95% CI 1.06-1.43), (ii) job control (HR 0.91, 95% CI 0.83-0.99), (iii) healthcare and social work (HR 1.41, 95% CI 1.04-1.92), and (iv) service and military work (HR 2.07, 95% CI 1.37-3.14) remained after accounting for possible confounders, including familial factors, while the associations between DP and (i) social support, (ii) type of jobs, and (iii) some of the occupational groups were attenuated, becoming non-significant. In the discordant twin pair analyses, commercial work was significantly associated with lower risk of DP (HR 0.55, 95% CI 0.32-0.95). One unit increase in job demands and working in the occupational groups healthcare and social work or service and military work seem to be risk factors of DP with mental diagnoses, independent from various background factors including familial ones. However, one unit increase in job control or working in commercial work seem to be protective factors of such DP, accounting for confounding factors of this study.

Controlled family study of anorexia nervosa and bulimia nervosa: evidence of shared liability and transmission of partial syndromes.

Science.gov (United States)

Strober, M; Freeman, R; Lampert, C; Diamond, J; Kaye, W

2000-03-01

Lifetime rates of full and partial anorexia nervosa and bulimia nervosa were determined in first-degree relatives of diagnostically pure proband groups and relatives of matched, never-ill comparison subjects. Rates of each eating disorder were obtained for 1,831 relatives of 504 probands on the basis of personal structured clinical interviews and family history. Best-estimate diagnoses based on all available information were rendered without knowledge of proband status and pedigree identity. Only definite and probable diagnoses were considered. Whereas anorexia nervosa was rare in families of the comparison subjects, full and partial syndromes of anorexia nervosa aggregated in female relatives of both anorexic and bulimic probands. For the full syndrome of anorexia nervosa, the relative risks were 11.3 and 12.3 in female relatives of anorexic and bulimic probands, respectively. Bulimia nervosa was more common than anorexia nervosa in female relatives of comparison subjects, but it, too, aggregated in the families of ill probands; the corresponding relative risks for bulimia nervosa were 4.2 and 4.4 for female relatives of anorexic and bulimic probands, respectively. When partial syndromes of anorexia nervosa and bulimia nervosa were considered, relative risks fell by one-half in each group of ill probands. Both anorexia nervosa and bulimia nervosa are familial. Their cross-transmission in families suggests a common, or shared, familial diathesis. The additional observation that familial aggregation and cross-transmission extend to milder phenotypes suggests the validity of their inclusion in a continuum of familial liability.

Bounding CKM mixing with a fourth family

International Nuclear Information System (INIS)

Chanowitz, Michael S.

2009-01-01

CKM mixing between third-family quarks and a possible fourth family is constrained by global fits to the precision electroweak data. The dominant constraint is from nondecoupling oblique corrections rather than the vertex correction to Z→bb used in previous analyses. The possibility of large mixing suggested by some recent analyses of flavor-changing neutral-current processes is excluded, but 3-4 mixing of the same order as the Cabbibo mixing of the first two families is allowed.

A revised Self- and Family Management Framework.

Science.gov (United States)

Grey, Margaret; Schulman-Green, Dena; Knafl, Kathleen; Reynolds, Nancy R

2015-01-01

Research on self- and family management of chronic conditions has advanced over the past 6 years, but the use of simple frameworks has hampered the understanding of the complexities involved. We sought to update our previously published model with new empirical, synthetic, and theoretical work. We used synthesis of previous studies to update the framework. We propose a revised framework that clarifies facilitators and barriers, processes, proximal outcomes, and distal outcomes of self- and family management and their relationships. We offer the revised framework as a model that can be used in studies aimed at advancing self- and family management science. The use of the framework to guide studies would allow for the design of studies that can address more clearly how self-management interventions work and under what conditions. Copyright © 2015 Elsevier Inc. All rights reserved.

Irregular breakfast consumption in adolescence and the family environment: underlying causes by family structure.

Science.gov (United States)

Levin, Kate A; Kirby, Joanna

2012-08-01

Data from the 2002, 2006 and 2010 Scottish Health Behaviour in School-aged Children (HBSC) surveys were analysed using logistic multilevel regression for outcome variable irregular breakfast consumption (IBC). IBC prevalence in Scotland was higher among young people from reconstituted and single parent families, and particularly single father families. Family characteristics, found previously to be associated with breakfast consumption, such as number of siblings, perceived parenting, parental involvement and family affluence, differed by family structure. Family structure inequalities in IBC existed, also after adjustment for year and child's sex, age, grade and ethnicity. Across all family structures, IBC was more prevalent at the older age groups, among those who had difficult communication with their parents, and where household routines were infrequent. Greater number of siblings and lower family affluence were associated with higher odds of IBC in single mother and both parent families, while having a second home was associated with higher odds in reconstituted households. Fair parenting and being close to at least one parent was associated with reduced odds of IBC in single mother households, while being close to all parents was in single father households. In single mother homes, having a working mother was also positively associated with IBC. Family structure differences should be considered when addressing irregular breakfast consumption in adolescence. Copyright © 2012 Elsevier Ltd. All rights reserved.

Relations in the family of patients with infiltrative pulmonary tuberculosis and recommendations for therapeutic interaction

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E. V. Sukhova

2015-01-01

Full Text Available A family is a social group that satisfies the most important needs and fulfils diverse functions. Patients with infiltrative pulmonary tuberculosis are not emotionally supported by their family members and hence experience anger and exasperation. The functioning of 30 families of patients with infiltrative pulmonary tuberculosis was psychologically studied using the family environment scale. The findings were compared with those of 100 standard families. Six out of 10 items showed significant differences, the other 4 items also displayed dissimilarities, but the latter were insignificant. The families of patients with pulmonary tuberculosis were dysfunctional. The social climate of the family had established well before infiltrative tuberculosis was diagnosed in its member. The dissimilarities from the standard families are due to the social characteristics of family members, such as low income, alcohol abuse, and imprisonment. The specific features of the social climate of a family provide an explanation for no moral support to the patient.

Neurodevelopmental profiles of children with glutaric aciduria type I diagnosed by newborn screening: a follow-up case series.

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Brown, Amy; Crowe, Louise; Beauchamp, Miriam H; Anderson, Vicki; Boneh, Avihu

2015-01-01

Glutaric aciduria type I (GA-I) is an inherited metabolic disorder that may lead to severe motor disorder and cognitive impairment. GA-I is now included in the newborn screening programme in many countries as early detection allows for prompt treatment and effectively reduces the risk of poor developmental outcome. Information regarding the long-term neurodevelopmental outcome of children with GA-I treated early is sparse.We recruited children with a confirmed diagnosis of GA-I diagnosed via newborn screening, treated in our centre and >3 years of age (n = 6). Children were assessed at two time points using a comprehensive neuropsychological test battery. Four of these had been the subject of a previous report. All participants were male, 3-6 years at the initial assessment and 6-12 years of age at the follow-up assessment.Fine motor skills were below average in all patients. Speech, which was affected in all four patients reported previously, improved following speech therapy. IQ scores remained generally stable within the normal range. Executive functioning was average to high average in four patients. Behaviour, as assessed through parental questionnaires, was problematic in two patients. Compounding factors included child neglect, family history of autism and multiple admissions to hospital (n = 1 in each).GA-I affects fine motor skills and speech, regardless of early treatment, but not IQ scores. Patients with GA-I should be referred for assessment and appropriate early intervention. Further research is needed to correlate specific neuropsychological deficits with neuroimaging.

Gaucher's disease diagnosed by splenectomy.

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Adas, Mine; Adas, Gokhan; Karatepe, Oguzhan; Altiok, Merih; Ozcan, Deniz

2009-08-01

Splenectomy continues to find common therapeutic indications for hematologic disorders. In addition, recently it is also performed in surgical clinics to assist diagnose of some illnesses. Gaucher's disease, especially Type I, is the most frequently encountered lysosomal storage disorder in man. Manifestations of it are highly variable. The most frequently found symptoms include splenomegaly with anaemia and thrombocytopenia, mostly due to hypersplenism, hepatomegaly and bone disease. Four patients were reported in the present study. Three of them were easily diagnosed with Gaucher's disease via bone marrow cytology, and one with Gaucher's disease was detected by pathological examination following the splenectomy. For the pouse of diagnosis of the Gaucher's disease, performing surgery is generally not necessary. However, for the cases of difficult to diagnose by classical methods, the corect diagnosis of Gaucher's disease can only be made by a special operation.

How Do Health Care Providers Diagnose Cushing's Syndrome?

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... Email Print How do health care providers diagnose Cushing syndrome? Diagnosing Cushing syndrome can be complex and difficult. This syndrome is ... health care provider may try different tests. Diagnosing Cushing syndrome often requires several steps. If you are being ...

Otolaryngologists may not be doing enough to diagnose pediatric eosinophilic esophagitis.

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Smith, Lee P; Chewaproug, Linda; Spergel, Jonathan M; Zur, Karen B

2009-11-01

To systematically evaluate the diagnosis of eosinophilic esophagitis (EE). A retrospective review of 657 patients seen at the EE center of a tertiary care children's hospital between 1994 and 2007 was performed. Charts were reviewed for the 144 patients who were also seen by the otolaryngology service. One hundred forty-four patients received 193 otolaryngology-related diagnoses. Eustachian tube dysfunction (27.5%) and sleep disordered breathing (24.9%) were the most common, followed by dysphagia (13.0%), rhinosinusitis/nasal congestion (9.3%) and airway stenosis (5.2%). Seventy-nine patients (54.9%) had a pre-existing diagnosis of EE at the time of their otolaryngology consultation. Twenty-one patients (14.6%) were referred to the gastroenterology service for evaluation for EE. Forty-four patients (30.5%) remained undiagnosed. Twenty-five of these patients presented with dysphagia, 16 of whom were not previously diagnosed with EE; only 4 of these 16 patients were referred for evaluation for EE. In one case, a child with moderate sized tonsils underwent adenotonsillectomy for dysphagia and failure to thrive; this patient was diagnosed with EE 1 month post-operatively. Twenty percent of patients with EE may require care by an otolaryngologist for a myriad of complaints. Even experienced pediatric otolaryngologists may not recognize this condition. Otolaryngologists should consider EE in patients presenting with dysphagia. A careful gastroenterology review of symptoms may also allow otolaryngologists to identify EE in patients with allergy mediated nasal complaints, or laryngeal/airway disorders.

Unexpected finding of T-cell lymphoma in a previously healthy 16-year-old patient after a thorax trauma: a case report

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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...... relevant to pediatricians, surgeons, anesthesiologists, and general practitioners....

Exploring the Relationship between Family Functioning and Psycho-Pathology in a Sample in the Pediatric Age.

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Pepe, Silvia; Tortolani, Daniela; Gentile, Simonetta; Di Ciommo, Vincenzo M

2015-03-17

The purpose of this study was to investigate differences in family functioning between families with clinical subjects in paediatric age and families taken from the Italian population. To this aim we used the Family Adaptability and Cohesion Evaluation Scale (FACES). Participants were children diagnosed with a psychopathology, recruited into the psychiatry department in a Paediatric Hospital of Rome. A total of 106 families participated in the study. The non-pathological sample is composed by 2,543 parents in different age periods of the life-cycle. Results showed significant differences in family functioning between pathological and non-pathological samples. Specifically, families from the pathological sample (particularly the ones who experienced eating disorders) were more frequently located in extreme or mid-range regions of Olson's circumplex model (p families in a clinical setting. Critical aspects and clinical applications are discussed.

Association of depression with newly diagnosed type 2 diabetes among adults aged between 25 to 60 years in Karachi, Pakistan

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Perveen Shazia

2010-03-01

Full Text Available Abstract Background The combination of depression with type 2 diabetes is a public health problem. If diabetes is managed in its initial phase, the morbidity and mortality due to this combination may be prevented at an early stage. Therefore, we aimed to determine the association of depression with newly diagnosed type 2 diabetes among adults aged between 25 to 60 years in Karachi, Pakistan. Methods From July 2006 to September 2007, a matched case control study (n = 592 was conducted in Civil Hospital, Karachi. Incident cases of type 2 diabetes (n = 296 diagnosed within one month were recruited from diabetic Out Patient Department (OPD of Civil Hospital, Karachi. They were matched on age and sex with controls (n = 296, who were attendants sitting in the medical out patient department of the same hospital, recruited on the basis of absence of classical symptoms of polyuria and polydispia along with random blood glucose level of Results The study comprised of 592 subjects with 432(73% males and 160(27% females. Depression was significantly associated with newly diagnosed type 2 diabetes having mild level (mOR: 3.86; 95%CI: 2.22,6.71 and moderate to severe level (mOR: 3.41; 95%CI: 2.07,5.61. History of (h/o gestational diabetes (mOR: 2.83; 95%CI: 1.05,7.64, family h/o diabetes (mOR: 1.59; 95%CI: 1.04,2.43, nuclear family (mOR: 1.75; 95%CI: 1.14,2.69, BMI (mOR: 1.62; 95%CI: 1.01,2.60 for obese and mOR: 2.12; 95%CI: 1.19,3.79 for overweight vs healthy to underweight were also significantly associated with outcome, adjusting for age, sex, marital status, h/o smoking and h/o high BP. Conclusions Diabetics should be screened simultaneously for depression and concomitant preventive strategies for gestational diabetes, nuclear family and high BMI should also be used to prevent mortality/morbidity among patients between 25 to 60 years of age.

Child Comorbidity, Maternal Mood Disorder, and Perceptions of Family Functioning among Bipolar Youth

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Esposito-Smythers, Christianne; Birmaher, Boris; Valeri, Sylvia; Chiappetta, Laurel; Hunt, Jeffrey; Ryan, Neal; Axelson, David; Strober, Michael; Leonard, Henrietta; Sindelar, Holly; Keller, Martin

2006-01-01

Objective: To examine the association between youth comorbid psychiatric disorders, maternal mood disorder, and perceptions of family cohesion and conflict among youth diagnosed with pediatric bipolar disorder (PBD). Method: Three hundred eighty-nine bipolar youths and their parents completed a diagnostic interview and instruments assessing family…

The effects of organizational and community embeddedness on work-to-family and family-to-work conflict.

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Ng, Thomas W H; Feldman, Daniel C

2012-11-01

The present study offers competing hypotheses regarding the relationships of changes in organizational and community embeddedness with changes in work-to-family and family-to-work conflict. Data were collected from 250 U.S. and 165 Chinese managers and professionals, all of whom were married, at 3 points in time over a 10-month period. Results suggest that increases in perceptions of organizational and community embeddedness are associated with increases in work-to-family conflict and family-to-work conflict over time. Further, we found that these effects were even stronger for employees with highly individualistic values. Thus, although much of the previous research has focused on the positive effects of employee embeddedness for individuals' work lives, the present study provides some evidence of the potentially negative effects of employee embeddedness for individuals' family lives. (c) 2012 APA, all rights reserved.

Examining the relationship between family meal frequency and individual dietary intake: does family cohesion play a role?

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Welsh, Ericka M; French, Simone A; Wall, Melanie

2011-01-01

To confirm previously reported associations between family meal frequency and dietary intake, and to examine family cohesion as a potential mediator of this relationship. Cross-sectional observational study. Data collected at baseline via questionnaire. Randomized, controlled household weight gain prevention trial. Participants were 152 adults and 75 adolescents from 90 community households. Family meal frequency assessed with a single question. Perceived family cohesion measured by the Family Adaptability and Cohesion Evaluation Scale-III. Usual intake of targeted food items assessed with modified food frequency questionnaire. Hierarchical linear regression with mediation analysis. Statistical significance set at α-level .05. Family meal frequency was associated with intake of fruits and vegetables in adults, and sweets and sugar-sweetened beverages in adolescents. Family meal frequency was positively correlated with perceived family cohesion (r = 0.41, P family cohesion was observed for family meal frequency and sweets intake in adolescents. Results suggest that family cohesion is not a consistent mediator of relationship between family meal frequency and individual dietary intake. Future studies should assess additional plausible mediators of this relationship in order to better understand the effect of family meals on dietary intake. Copyright © 2011 Society for Nutrition Education. Published by Elsevier Inc. All rights reserved.

Understanding Effective Delivery of Patient and Family Education in Pediatric Oncology: A Systematic Review from the Children's Oncology Group

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Rodgers, Cheryl C.; Laing, Catherine M.; Herring, Ruth Anne; Tena, Nancy; Leonardelli, Adrianne; Hockenberry, Marilyn; Hendricks-Ferguson, Verna

2016-01-01

A diagnosis of childhood cancer is a life-changing event for the entire family. Parents must not only deal with the cancer diagnosis but also acquire new knowledge and skills to safely care for their child at home. Best practices for delivery of patient/family education after a new diagnosis of childhood cancer are currently unknown. The purpose of this systematic review was to evaluate the existing body of evidence to determine the current state of knowledge regarding the delivery of education to newly diagnosed pediatric oncology patients and families. Eighty-three articles regarding educational methods, content, influencing factors, and interventions for newly diagnosed pediatric patients with cancer or other chronic illnesses were systematically identified, summarized, and appraised according to the GRADE criteria. Based on the evidence, ten recommendations for practice were identified. These recommendations address delivery methods, content, influencing factors, and educational interventions for parents and siblings. Transferring these recommendations into practice may enhance the quality of education delivered by healthcare providers, and received by patients and families following a new diagnosis of childhood cancer. PMID:27450361

Fertility Preservation for Children Diagnosed with Cancer

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Full Text Available ... You are here Home » Patients Fertility Preservation for Children Diagnosed with Cancer Fertility Preservation for Children Diagnosed with Cancer Ask Your Doctor Information for ...

Fertility Preservation for Children Diagnosed with Cancer

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Full Text Available ... Home » Patients Fertility Preservation for Children Diagnosed with Cancer Fertility Preservation for Children Diagnosed with Cancer Ask Your Doctor Information for Patients Many adult ...

The HIV care cascade in Switzerland: reaching the UNAIDS/WHO targets for patients diagnosed with HIV.

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Kohler, Philipp; Schmidt, Axel J; Cavassini, Matthias; Furrer, Hansjakob; Calmy, Alexandra; Battegay, Manuel; Bernasconi, Enos; Ledergerber, Bruno; Vernazza, Pietro

2015-11-28

To describe the HIV care cascade for Switzerland in the year 2012. Six levels were defined: (i) HIV-infected, (ii) HIV-diagnosed, (iii) linked to care, (iv) retained in care, (v) on antiretroviral treatment (ART), and (vi) with suppressed viral load. We used data from the Swiss HIV Cohort Study (SHCS) complemented by a nationwide survey among SHCS physicians to estimate the number of HIV-patients not registered in the cohort. We also used Swiss ART sales data to estimate the number of patients treated outside the SHCS network. Based on the number of patients retained in care, we inferred the estimates for levels (i) to (iii) from previously published data. We estimate that (i) 15 200 HIV-infected individuals lived in Switzerland in 2012 (margins of uncertainty, 13 400-19 300). Of those, (ii) 12 300 (81%) were diagnosed, (iii) 12 200 (80%) linked, and (iv) 11 900 (79%) retained in care. Broadly based on SHCS network data, (v) 10 800 (71%) patients were receiving ART, and (vi) 10 400 (68%) had suppressed (Switzerland is substantially lower than previously reported, halving previous national HIV prevalence estimates to 0.2%. In Switzerland in 2012, 91% of patients in care were receiving ART, and 96% of patients on ART had suppressed viral load, meeting recent UNAIDS/WHO targets.

Psychiatric diagnoses, trauma, and suicidiality

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Elklit Ask

2007-04-01

Full Text Available Abstract Background This study aimed to examine the associations between psychiatric diagnoses, trauma and suicidiality in psychiatric patients at intake. Methods During two months, all consecutive patients (n = 139 in a psychiatric hospital in Western Norway were interviewed (response rate 72%. Results Ninety-one percent had been exposed to at least one trauma; 69 percent had been repeatedly exposed to trauma for longer periods of time. Only 7% acquired a PTSD diagnosis. The comorbidity of PTSD and other psychiatric diagnoses were 78%. A number of diagnoses were associated with specific traumas. Sixty-seven percent of the patients reported suicidal thoughts in the month prior to intake; thirty-one percent had attempted suicide in the preceding week. Suicidal ideation, self-harming behaviour, and suicide attempts were associated with specific traumas. Conclusion Traumatised patients appear to be under- or misdiagnosed which could have an impact on the efficiency of treatment.

Infants with prenatally diagnosed kidney anomalies have an increased risk of urinary tract infections

DEFF Research Database (Denmark)

Rasmussen, Maria; Sunde, Lone; Andersen, René F

2017-01-01

AIM: This study estimated the urinary tract infection (UTI) risk in a nationwide cohort of infants prenatally diagnosed with parenchymal kidney anomalies compared with a comparison cohort. METHODS: A Danish population-based nationwide cohort of foetuses diagnosed with parenchymal kidney anomalies...... between 2007 and 2012 had previously been identified. These were compared with foetuses without kidney anomalies who were prenatally scanned the same year. Live born infants were followed from birth until the diagnosis of UTI, emigration, death or two years of age. Cumulative incidences of UTIs were...... computed. Mortality was estimated using the Kaplan-Meier method. RESULTS: We identified 412 foetuses with parenchymal kidney anomalies out of 362 069 who underwent ultrasound scans and 277 were born alive. The overall risk of a UTI before the age of two years was 19%, and it was 14% among infants without...

Familial clustering of tic disorders and obsessive-compulsive disorder.

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Browne, Heidi A; Hansen, Stefan N; Buxbaum, Joseph D; Gair, Shannon L; Nissen, Judith B; Nikolajsen, Kathrine H; Schendel, Diana E; Reichenberg, Abraham; Parner, Erik T; Grice, Dorothy E

2015-04-01

Tourette syndrome/chronic tic disorder (TS/CT) and obsessive-compulsive disorder (OCD) overlap in their phenomenological features and often co-occur in affected individuals and families. Understanding how these disorders cluster in families provides important clinical information and is an important step in understanding the causes of these disorders. To determine familial recurrence for TS/CT and OCD using a national epidemiologic sample. We performed a population-based study of national health registries in Denmark, including all individuals (n = 1 741 271) born in Denmark from January 1, 1980, through December 31, 2007, and followed up through December 31, 2013. We identified those with TS/CT and/or OCD. The prevalence of TS/CT and OCD and relative recurrence risk (RRR) for TS/CT or OCD among individuals with an oldest sibling or a parent diagnosed as having TS/CT or OCD compared with individuals without an affected oldest sibling or an affected parent. In this sample, 5596 individuals were diagnosed as having TS/CT; 6191, OCD; and 412, both disorders. The overall cohort prevalence of TS/CT was 0.42% (95% CI, 0.41%-0.43%) and of OCD, 0.84% (95% CI, 0.81%-0.87%). The mean sibling recurrence risk for TS/CT across all birth years was 9.88% (95% CI, 8.02%-12.16%) and for OCD, 4.01% (95% CI, 2.78%-5.76%). The sibling RRR for TS/CT was 18.63 (95% CI, 15.34-22.63). In contrast, the sibling RRR for OCD was 4.89 (95% CI, 3.45-6.93). The parent-offspring RRR for TS/CT was 61.02 (95% CI, 44.43-83.82), whereas the parent-offspring RRR for OCD was 6.25 (95% CI, 4.82-8.11). The sibling and parent-offspring cross-disorder risks were also significant, ranging from 3.20 (95% CI, 2.22-4.62) to 10.27 (95% CI, 5.17-20.39). Tourette syndrome/CT and OCD cluster in families. The familial aggregation of TS/CT is profound and substantially higher than the familial aggregation for OCD. The recurrence risk estimates provide an important clinical framework for identifying

Family functioning in patients with obsessive compulsive disorder: A case - control study

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Sateesh R Koujalgi

2015-01-01

Full Text Available Background: Psychological disorders can have a direct impact on family functioning. Family dysfunction is an indirect factor leading to the relapse of psychological disorders. Literature on family dysfunction in anxiety disorder is limited. Role of family and its functioning in obsessive-compulsive disorder (OCD may help in better understanding of the role of social factors in OCD. Aim: The aim was to compare family functions in patients with OCD and compare with controls. Materials and Methods: The sample included 30 cases and 30 age and sex-matched controls. The patients were diagnosed as having OCD using ICD-10 DCR criteria. Yale-Brown Obsessive Compulsive Scale was used to assess the severity of OCD among patients. General Health Questionnaire was used as screening instruments for psychiatric disorder among the control population. Family function was assessed in cases and control using the Family Interaction Patterns Schedule (FIPS. Statistical analysis was performed using SPSS software. Results: Obsessive compulsive disorder patients in comparison controls had significantly increased total FIPS score (P = 0.001. Conclusion: Families with OCD are more significantly impaired in multiple domains of family dynamics than families without member suffering from OCD. It is, therefore, essential that family-based structure effective assessment be sought in the psychosocial management of OCD.

Youth suicide: an insight into previous hospitalisation for injury and sociodemographic conditions from a nationwide cohort study.

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Zambon, Francesco; Laflamme, Lucie; Spolaore, Paolo; Visentin, Cristiana; Hasselberg, Marie

2011-06-01

This study investigates the degree to which a previous hospitalisation for injury of any intent is a risk of subsequent youth suicide and whether this association is influenced by family socioeconomic status or economic stress. A nationwide register-based cohort study was conducted covering all Swedish subjects born between January 1977 and December 1991 (N=1,616,342, male/female ratio=1.05). The cohort subjects were followed-up from January 1998 to December 2003, when aged 7-26 years. Poisson regression and the likelihood ratio test (95% CI) were used to assess the age-adjusted effect of hospitalisation for injuries of various intent on youth suicide and its effect once adjusted for family sociodemographic and social circumstances. Each set of exposures was associated independently and significantly with suicide mortality. Being hospitalised for self-inflicted injuries or injuries of undetermined intent was associated with a risk of suicide 36 to 47 times, respectively, that of subjects never hospitalised in the period under study (95% CI 28.36 to 45.58 and 26.67 to 83.87 for self-inflicted injuries and for events of undetermined intent, respectively; overall psuicide (RR 3.08; 95% CI 2.26 to 4.19). These effects were solid and not substantially altered after adjustment for family demographic and socioeconomic circumstances. A strong association exists between previous hospitalisation for injury of any intent and youth suicide. The association is robust and unaltered by family socioeconomic circumstances.

Sun exposure habits and health risk-related behaviours among individuals with previous history of skin cancer.

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Falk, Magnus; Faresjö, Ashild; Faresjö, Tomas

2013-02-01

The aim of the present study was to investigate possible associations between UV exposure and other health risk behaviours in different social environments and in regard to previous history of skin cancer. In two closely-located, equally-sized cities in Sweden, representing different social environments (blue collar and white collar), patients aged 55-69 years, diagnosed with skin cancer (study group, n=489) or seborrhoeic keratosis (control group, n=664), were identified through a regional Health Care Register, and were given a questionnaire mapping for sun habits, tobacco smoking, alcohol use, and physical activity. A previous history of skin cancer was associated with reduced UV exposure (phistory of skin cancer appears to promote increased UV protection. In contrast to alcohol/smoking habits, no association between social environment and sun habits was found.

Measuring impairment when diagnosing adolescent ADHD: Differentiating problems due to ADHD versus other sources.

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Vazquez, Alejandro L; H Sibley, Margaret; Campez, Mileini

2018-04-13

The DSM-5 requires clinicians to link ADHD symptoms to clinically meaningful impairments in daily life functioning. Measuring impairment during ADHD assessments may be particularly challenging in adolescence, when ADHD is often not the sole source of a youth's difficulties. Existing impairment rating scales are criticized for not specifying ADHD as the source of impairment in their instructions, leading to potential problems with rating scale specificity. The current study utilized a within subjects design (N = 107) to compare parent report of impairment on two versions of a global impairment measure: one that specified ADHD as the source of impairment (Impairment Rating Scale-ADHD) and a standard version that did not (Impairment Rating Scale). On the standard family impairment item, parents endorsed greater impairment as compared to the IRS-ADHD. This finding was particularly pronounced when parents reported high levels of parenting stress. More severe ADHD symptoms were associated with greater concordance between the two versions. Findings indicate that adolescent family related impairments reported during ADHD assessments may be due to sources other than ADHD symptoms, such as developmental maladjustment. To prevent false positive diagnoses, symptom-specific wording may optimize impairment measures when assessing family functioning in diagnostic assessments for adolescents with ADHD. Copyright © 2018 Elsevier B.V. All rights reserved.

The Specific Role of Childhood Abuse, Parental Bonding, and Family Functioning in Female Adolescents With Borderline Personality Disorder.

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Infurna, Maria Rita; Brunner, Romuald; Holz, Birger; Parzer, Peter; Giannone, Francesca; Reichl, Corinna; Fischer, Gloria; Resch, Franz; Kaess, Michael

2016-04-01

This study examined a broad variety of adverse childhood experiences in a consecutive sample of female adolescent inpatients with borderline personality disorder (BPD; n = 44) compared with a clinical control (CC; n = 47) group with mixed psychiatric diagnoses. BPD was diagnosed using a structured clinical interview; different dimensions of childhood adversity were assessed using the Childhood Experiences of Care and Abuse Questionnaire, the Parental Bonding Instrument, and the Family Assessment Device. A history of childhood adversity was significantly more common in patients with BPD than in the CC group. Using a multivariate model, sexual abuse (OR = 13.8), general family functioning (OR = 8.9), and low maternal care (OR = 7.6) were specific and independent predictors of adolescent BPD. The results increase our knowledge of the specific role of different dimensions of childhood adversity in adolescent BPD. They have important implications for prevention and early intervention as they highlight the need for specific strategies for involving the family.

Difficult diagnoses in the skeletal radiology

International Nuclear Information System (INIS)

Freyschmidt, Juergen

2013-01-01

The book on difficult diagnoses in the skeletal radiology discusses the path from symptom to diagnoses including image interpretation. Specific case studies concern the skull, the spinal cord, pelvis, shoulder and chest, upper and lower extremities. The used radiological techniques include projecting radiography, computerized tomography, scintiscanning, PET/CT, NNR imaging and ultrasonography.

Psychosocial covariates of physical activity in recently diagnosed Type 2 diabetes patients

Directory of Open Access Journals (Sweden)

Rajesh Nair

2013-01-01

Full Text Available Background Regular physical activity can be effective not only in preventing diabetes and managing its complications but also be effective in minimizing the risk of developing other chronic diseases among diabetics. The overall aim of study was to determine probable causes of change in physical activity so as to generate evidences for future interventions and to identify psychosocial covariates of self reported physical activity in recently diagnosed Type 2 diabetes cases. Methods Participantsn=478(239interventionarmand239controlarmof an observational cohort were randomized into the ADDITION Plus trial and were recruited from 36 practices in East Anglia region. Participants were people recently diagnosed with diabetes (screen detected and clinically diagnosed within the preceding 3 years were individually randomized and were between the age group of 40-69 years, (mean age 59.2 years. The self reported data regarding physical activity was measured at baseline and one year were used. Demographic and psychosocial (treatment control, consequences, anxiety covariates were assessed at the baseline. Linear univariate and multivariable linear regression analysis was used to quantify the associations between demographic and psychosocial correlates. Results: With regard to the psychosocial correlates(except for participants’ perceptions about the consequences of diabetes, no significant associations with physical activity were found. Treatment control and anxiety failed to predict physical activity. Conclusion The result suggests to further investigate the change in physical activity by including other variables related to demography, other psycho-social and environment influences. Based on the available literature, it is suggested that other factors were found consistently associated with physical activity such as self efficacy, attitude, sensation seeking, family-friend social support, goal orientation, motivation could be studied.

Child attention deficit hyperactive disorder co morbidities on family stress: effect of medication.

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Silva, Desiree; Houghton, Stephen; Hagemann, Erika; Jacoby, Peter; Jongeling, Brad; Bower, Carol

2015-04-01

We examined the degree of parental and child mental health in a community sample of children diagnosed with Attention Deficit Hyperactive Disorder and the effect on family stress prior to and during treatment using a community retrospective questionnaire study. In total 358 questionnaires were returned for analysis where 92 % of children had at least one co-morbid condition and mental health conditions in parents was common. Overall, the Family Strain Index was significantly reduced after commencement of medication (p disorders or autism spectrum disorder.

Sibling sex ratio of individuals diagnosed with autism spectrum disorder as children

DEFF Research Database (Denmark)

Mouridsen, Svend Erik; Rich, Bente; Isager, Torben

2010-01-01

AIM: To study the sex ratio (proportion of males) in siblings of individuals diagnosed with autism spectrum disorders (ASDs) as children. METHOD: In the current study, we extended previous studies dealing with the androgen theory of autism and examined sex ratios in the siblings of 326 individuals...... the Danish live-birth sex ratio over the same period (0.514, p=0.001). The sibling sex ratio was not associated with the IQ in the autistic probands. INTERPRETATION: Our findings suggest a potential indirect confirmation of the androgen theory of autism....

How to diagnose equal opportunities between women and men in organizations

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Amaia Lusa

2009-12-01

Full Text Available Gender equality is now a matter that concerns all European countries. Despite the great effort made by governments and the progress of laws, gender discrimination still exists in family, social, cultural, political and economic spheres. Even today, it is rare to find women at the top level in companies. The path to equal opportunities is long and the only way to improve the situation is by means of appropriate equal opportunities plans. An essential part of the process of designing and implementing such action plans involves diagnosing the situation in a company. In this paper, an innovative indicator model is proposed. A review of numerous international private and public equal opportunities plans led to the design of a model to carry out a diagnose to identify all areas that could be corrected or improved by implementing specific measures, leading the company to deliver real equal opportunities policies. The indicator model is designed for the present historical context, though it is flexible enough to be adapted to each age and situation. The indicator model, which is original, will help companies carrying out one of the most important and essential parts of the process of designing and implementing and equal opportunities plan. Moreover, taking the indicator model companies ensure that all the relevant features are covered.

Family, friends, and faith: how organ donor families heal.

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Stouder, Donald B; Schmid, Adam; Ross, Sharon S; Ross, Larry G; Stocks, Lisa

2009-12-01

Understanding how organ donors' families recover from their grief can help organ procurement organizations improve consent rates and increase the number of deceased donor organs available for transplant. To determine what helps the loved ones of deceased organ donors heal from their grief and loss, and to better understand families' needs during the consent process as a way of improving overall consent rates for organ donation. Written survey of all organ and tissue donors' families in the San Diego and Imperial County (California) service area during 2006 and 2007. Responses to the 20-question survey addressing factors that help healing from grief, as well as contextual information about the families' experience at the hospital and the consent process. Most respondents (84%) indicated that family support was the most helpful thing in dealing with their grief, followed by the support of friends (74%) and religious and cultural beliefs (37%). Most (75%) indicated that they agreed to donation so that something positive could result from their loss. Most respondents (93%) felt that they were given enough information to make an informed decision about donation, and 6% indicated that the donation process interfered with funeral or memorial arrangements. More than 95% understood that their loved one had died before they were approached for consent. Consistent with previous studies, 12% said they still had unanswered questions about aspects of donation, and 15% of respondents indicated that the discussion about organ donation added more emotional stress to their overall experience.

Ibrutinib versus previous standard of care: an adjusted comparison in patients with relapsed/refractory chronic lymphocytic leukaemia.

Science.gov (United States)

Hansson, Lotta; Asklid, Anna; Diels, Joris; Eketorp-Sylvan, Sandra; Repits, Johanna; Søltoft, Frans; Jäger, Ulrich; Österborg, Anders

2017-10-01

This study explored the relative efficacy of ibrutinib versus previous standard-of-care treatments in relapsed/refractory patients with chronic lymphocytic leukaemia (CLL), using multivariate regression modelling to adjust for baseline prognostic factors. Individual patient data were collected from an observational Stockholm cohort of consecutive patients (n = 144) diagnosed with CLL between 2002 and 2013 who had received at least second-line treatment. Data were compared with results of the RESONATE clinical trial. A multivariate Cox proportional hazards regression model was used which estimated the hazard ratio (HR) of ibrutinib versus previous standard of care. The adjusted HR of ibrutinib versus the previous standard-of-care cohort was 0.15 (p ibrutinib in the RESONATE study were significantly longer than with previous standard-of-care regimens used in second or later lines in routine healthcare. The approach used, which must be interpreted with caution, compares patient-level data from a clinical trial with outcomes observed in a daily clinical practice and may complement results from randomised trials or provide preliminary wider comparative information until phase 3 data exist.

Couples' cultural values, shared parenting, and family emotional climate within Mexican American families.

Science.gov (United States)

Sotomayor-Peterson, Marcela; Figueredo, Aurelio J; Christensen, Donna H; Taylor, Angela R

2012-06-01

This study tested a model of shared parenting as its centerpiece that incorporates cultural values as predictors and family emotional climate as the outcome variable of interest. We aimed to assess the predictive power of the Mexican cultural values of familismo and simpatia over couples' shared parenting practices. We anticipated that higher levels of shared parenting would predict family emotional climate. The participants were 61 Mexican American, low income couples, with at least one child between 3 and 4 years of age, recruited from a home-based Head Start program. The predictive model demonstrated excellent goodness of fit, supporting the hypothesis that a positive emotional climate within the family is fostered when Mexican American couples practice a sufficient level of shared parenting. Empirical evidence was previously scarce on this proposition. The findings also provide evidence for the role of cultural values, highlighting the importance of family solidarity and avoidance of confrontation as a pathway to shared parenting within Mexican American couples. © FPI, Inc.

The Impact of Various Parental Mental Disorders on Children's Diagnoses: A Systematic Review.

Science.gov (United States)

van Santvoort, Floor; Hosman, Clemens M H; Janssens, Jan M A M; van Doesum, Karin T M; Reupert, Andrea; van Loon, Linda M A

2015-12-01

Children of mentally ill parents are at high risk of developing problems themselves. They are often identified and approached as a homogeneous group, despite diversity in parental diagnoses. Some studies demonstrate evidence for transgenerational equifinality (children of parents with various disorders are at risk of similar problems) and multifinality (children are at risk of a broad spectrum of problems). At the same time, other studies indicate transgenerational specificity (child problems are specifically related to the parent's diagnosis) and concordance (children are mainly at risk of the same disorder as their parent). Better insight into the similarities and differences between children of parents with various mental disorders is needed and may inform the development and evaluation of future preventive interventions for children and their families. Accordingly, we systematically compared 76 studies on diagnoses in children of parents with the most prevalent axis I disorders: unipolar depression, bipolar disorder, and anxiety disorders. Methodological characteristics of the studies were compared, and outcomes were analyzed for the presence of transgenerational equifinality, multifinality, specificity, and concordance. Also, the strengths of the relationships between child and parent diagnoses were investigated. This review showed that multifinality and equifinality appear to be more of a characteristic of children of unipolar and bipolar parents than of children of anxious parents, whose risk is mainly restricted to developing anxiety disorders. For all children, risk transmission is assumed to be partly specific since the studies indicate a strong tendency for children to develop the same disorder as their parent.

Stickler syndrome: an underdiagnosed disease. Report of a family.

Science.gov (United States)

De Keyzer, T H W; De Veuster, I; Smets, R-M E

2011-01-01

To report a family diagnosed with Stickler syndrome. To emphasize that early recognition of patients with Stickler syndrome could improve the visual outcome. Case report. A 14 year old girl of Mahgrebian origin presented with a longstanding subtotal RRD in the right eye. Subsequently 6 family members in 3 generations have been identified with the same COL2A1 mutation. 4 eyes lost perception of light and 1 eye was enucleated. Stickler syndrome is the commonest inherited cause of rhegmatogenous retinal detachment (RRD). These tend to be complex and to occur at young age, frequently affecting both eyes. Other ocular features consist of high myopia, optically empty vitreous cavity, posterior radial paravascular lattice-type degeneration, cataract and glaucoma. Non-ocular findings include midface hypoplasia, musculoskeletal changes and hearing loss. In severe cases the disorder will readily be suspected. In mildly affected patients, clinical diagnosis can be quite difficult. Therefore, all family members of a Stickler patient should be offered molecular genetic testing. Stickler patients benefit from a multidisciplinary approach, including audiologic examination. They should be informed about the symptoms associated with retinal tears and retinal detachment and have priviliged access to the ophthalmic care unit. In case of RRD, vitrectomy is the preferred surgery. Prophylaxis of RRD in Stickler syndrome patients consisting of a 360 degrees peripheral cryotherapy or photocoagulation has been proposed. Practical guidelines for follow up or thresholds for initiating treatment have not been formulated. Stickler syndrome remains under-diagnosed. Hightened awareness of Stickler syndrome could improve visual outcome in affected individuals and makes genetic counseling possible

Wujiang's service-oriented family planning programme.

Science.gov (United States)

Zhu, H

1995-08-01

Wujiang City in south Jiangsu Province is a county-level city, well known for its economic development and effective family planning program. Family planning is practiced voluntarily by the people. The growth rate of the city's population has decreased to 5.47/1000; the proportion of planned births has increased to 98%; and the total fertility rate has declined to 1.5. There are 34 towns (and townships) and 883 administrative villages under the jurisdiction of the city. The living standard has improved significantly. The successful implementation of family planning is largely due to the quality services delivered to farmers, especially women of reproductive age. In an interview, Mme. Ji and Mme. Shen, chiefs of the Wujiang Family Planning Committee, describe the services they deliver. The information, education, and communication (IEC) program is focused on population schools (city, town, township, and village), which deliver information to middle school students, premarital youth, and women who are pregnant, lying-in, or menopausal. Pamphlets on marriage and reproductive health are published by the county population school. Family planning service centers, which deliver contraceptive and technical services, were established in every town and township in 1993. Ultrasound scans are available and have been used to diagnose diseases, including cancer. Over 3000 women have been helped. Misuse of fetal sex identification is banned. The Family Planning Committee and the technical service centers in the city provide counselling services on fewer, healthier births; maternal and child health care; reproductive health; and treatment of infertility. There are several kinds of insurance related to family planning; these include old age support for the parents of only-children, safety insurance for only-children, and old age insurance for newlyweds. The insurance premium is shared by the couple (100 yuan) and the township (400 yuan). Only-child couples, two-daughter families

In silico analysis of a disease-causing mutation in PCDH15 gene in a consanguineous Pakistani family with Usher phenotype

Directory of Open Access Journals (Sweden)

Shamim Saleha

2016-05-01

Full Text Available AIM: To map Usher phenotype in a consanguineous Pakistani family and identify disease-associated mutation in a causative gene to establish phenotype-genotype correlation. METHODS: A consanguineous Pakistani family in which Usher phenotype was segregating as an autosomal recessive trait was ascertained. On the basis of results of clinical investigations of affected members of this family disease was diagnosed as Usher syndrome (USH. To identify the locus responsible for the Usher phenotype in this family, genomic DNA from blood sample of each individual was genotyped using microsatellite Short Tandem Repeat (STR markers for the known Usher syndrome loci. Then direct sequencing was performed to find out disease associated mutations in the candidate gene. RESULTS: By genetic linkage analysis, the USH phenotype of this family was mapped to PCDH15 locus on chromosome 10q21.1. Three different point mutations in exon 11 of PCDH15 were identified and one of them, c.1304A>C was found to be segregating with the disease phenotype in Pakistani family with Usher phenotype. This, c.1304A>C transversion mutation predicts an amino-acid substitution of aspartic acid with an alanine at residue number 435 (p.D435A of its protein product. Moreover, in silico analysis revealed conservation of aspartic acid at position 435 and predicated this change as pathogenic. CONCLUSION: The identification of c.1304A>C pathogenic mutation in PCDH15 gene and its association with Usher syndrome in a consanguineous Pakistani family is the first example of a missense mutation of PCDH15 causing USH1 phenotype. In previous reports, it was hypothesized that severe mutations such as truncated protein of PCDH15 led to the Usher I phenotype and that missense variants are mainly responsible for non-syndromic hearing impairment.

In silico analysis of a disease-causing mutation in PCDH15 gene in a consanguineous Pakistani family with Usher phenotype.

Science.gov (United States)

Saleha, Shamim; Ajmal, Muhammad; Jamil, Muhammad; Nasir, Muhammad; Hameed, Abdul

2016-01-01

To map Usher phenotype in a consanguineous Pakistani family and identify disease-associated mutation in a causative gene to establish phenotype-genotype correlation. A consanguineous Pakistani family in which Usher phenotype was segregating as an autosomal recessive trait was ascertained. On the basis of results of clinical investigations of affected members of this family disease was diagnosed as Usher syndrome (USH). To identify the locus responsible for the Usher phenotype in this family, genomic DNA from blood sample of each individual was genotyped using microsatellite Short Tandem Repeat (STR) markers for the known Usher syndrome loci. Then direct sequencing was performed to find out disease associated mutations in the candidate gene. By genetic linkage analysis, the USH phenotype of this family was mapped to PCDH15 locus on chromosome 10q21.1. Three different point mutations in exon 11 of PCDH15 were identified and one of them, c.1304A>C was found to be segregating with the disease phenotype in Pakistani family with Usher phenotype. This, c.1304A>C transversion mutation predicts an amino-acid substitution of aspartic acid with an alanine at residue number 435 (p.D435A) of its protein product. Moreover, in silico analysis revealed conservation of aspartic acid at position 435 and predicated this change as pathogenic. The identification of c.1304A>C pathogenic mutation in PCDH15 gene and its association with Usher syndrome in a consanguineous Pakistani family is the first example of a missense mutation of PCDH15 causing USH1 phenotype. In previous reports, it was hypothesized that severe mutations such as truncated protein of PCDH15 led to the Usher I phenotype and that missense variants are mainly responsible for non-syndromic hearing impairment.

High-Grade Leiomyosarcoma Arising in a Previously Replanted Limb

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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.

Familial atrophia maculosa varioliformis cutis: case report and pedigree analysis.

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Qu, T; Wang, B; Fang, K

2005-10-01

Atrophia maculosa varioliformis cutis (AVMC) was first described in 1918, as a rarely reported form of idiopathic macular atrophy on the cheeks. Nineteen patients have been reported in the past 86 years. Recently we diagnosed a 25-year-old woman as AMVC and investigated her family history. We collected the clinical data of the pedigree and presumed that AVMV is in a autosomal dominant inheritance.

Assessment of Family Functionality Among the Elderly With Chronic Illness

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Claudia Balula Chaves

2013-12-01

Full Text Available The family APGAR scale was developed by Smilkstein, Ashworth, and Montano (1982. The satisfaction assessment of the elderly with chronic illness regarding family is essential. This study aims to describe the socio-demographic and clinical profile of elderly people with chronic illness and correlate with perceived family support. This is a cross-sectional, analytical study of 294 elderly people (51.4% female, patients at the Health Centre in the district of Viseu - Portugal, diagnosed with chronic illness (77.9% cardiovascular; Mean age was 72.22 ± 6.13, 70.7% were married and 52% had 4 years of schooling; Data was gathered using a questionnaire and the Family APGAR (Adaptation, Partnership, Growth, Affection and Resolve. In relation to family functionality, 18.7% perceive families as highly functional, 26.9% mildly dysfunctional and 54.4% severely dysfunction. There is a statistically significant relationship between the family APGAR and the presence of chronic illness (p < 0.001. We found no statistical significance between the family APGAR and gender (p = 0.26, age (p = 0.26, marital status (p = 0.32 and educational level (p = 0.28. Economic, political and social changes in our society has an impact on the family and the support they provide which is manifested among vulnerable groups, as is the case of an elderly person with chronic illness. Thus, we propose specialised psychological support for this age group which is more vulnerable and without the needed support from within the family.

The Evaluation of Family Quality of Life of Children with Autism Spectrum Disorder and Attention Deficit Hyperactive Disorder

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Roxana ŞIPOŞ

2012-03-01

Full Text Available The Quality of Life (QoL represents a dimension of the overall status and of the wellbeing that might be influenced by various factors. Researchers suggest that the parents of children with disabilities may be more vulnerable in developing physical or mental issues and that these families have a lower quality of life. Primary objective of the study was to evaluate the QoL of families with Autism Spectrum Disorder (ASD children as compared with that of families with Attention Deficit Hyperactive Disorder (ADHD children. The data were collected from 65 children with age ranging between 2 and 14 years, diagnosed with ASD and 49 children diagnosed with ADHD. The Family Quality of Life Survey (FQoL was used to evaluate the family QoL. The multidimensional model of quality of life explains 48% of the variance of the global evaluation of the family’s quality of life, proportion statistically significant (F (9, 103 = 12.71 p<0.01. Under statistical control of other factors the most important predictors remain family (beta = 0.43, p < 0.001, support from others (beta =- 0.26, p < 0.001, career (beta = 0.23, p < 0.001 and financial status (beta = 0.15, p = 0.04. Parents of children from the ADHD sample believe that family relationships are less important for the family quality of life, have fewer opportunities to improve these relations, a lower initiative which can derive also from the reduced importance they place on this domain.

In silico analysis of a disease-causing mutation in PCDH15 gene in a consanguineous Pakistani family with Usher phenotype

OpenAIRE

Shamim Saleha; Muhammad Ajmal; Muhammad Jamil

2016-01-01

AIM: To map Usher phenotype in a consanguineous Pakistani family and identify disease-associated mutation in a causative gene to establish phenotype-genotype correlation. METHODS: A consanguineous Pakistani family in which Usher phenotype was segregating as an autosomal recessive trait was ascertained. On the basis of results of clinical investigations of affected members of this family disease was diagnosed as Usher syndrome (USH). To identify the locus responsible for the Usher phenotype...

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

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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.

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

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...... 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...... 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...

Conceptualizations of illness among relatives of patients diagnosed with schizophrenia.

Science.gov (United States)

Villares, Cecília C; Redko, Cristina P; Mari, Jair J

2017-06-01

Family concepts of a relative's illness are an important part of the coping process and reveal the cultural construction of the experience of illness. As part of a qualitative study conducted in the Schizophrenia Outpatient Clinic of the Department of Psychiatry, Escola Paulista de Medicina - UNIFESP, 14 relatives of eight outpatients diagnosed with schizophrenia were interviewed and invited to talk freely about their ideas and feelings concerning their relative's problem. Qualitative analysis was used to identify categories of illness representations. Three main categories were discussed, including Problema de Nervoso, Problema na Cabeça and Problema Espiritual (Problem of the Nerves, Problem in the Head and Spiritual Problem). The authors present evidence of these categories as cultural constructions, and discuss the relevance of popular notions of illness to the understanding of the course and outcome of schizophrenia, and the planning of culturally meaningful interventions.

Recruiting families at risk for hereditary breast and ovarian cancer from a statewide cancer registry: a methodological study.

Science.gov (United States)

Katapodi, Maria C; Duquette, Deb; Yang, James J; Mendelsohn-Victor, Kari; Anderson, Beth; Nikolaidis, Christos; Mancewicz, Emily; Northouse, Laurel L; Duffy, Sonia; Ronis, David; Milliron, Kara J; Probst-Herbst, Nicole; Merajver, Sofia D; Janz, Nancy K; Copeland, Glenn; Roberts, Scott

2017-03-01

Cancer genetic services (counseling/testing) are recommended for women diagnosed with breast cancer younger than 45 years old (young breast cancer survivors-YBCS) and at-risk relatives. We present recruitment of YBCS, identification and recruitment of at-risk relatives, and YBCS willingness to contact their cancer-free, female relatives. A random sample of 3,000 YBCS, stratified by race (Black vs. White/Other), was identified through a population-based cancer registry and recruited in a randomized trial designed to increase use of cancer genetic services. Baseline demographic, clinical, and family characteristics, and variables associated with the Theory of Planned Behavior (TPB) were assessed as predictors of YBCS' willingness to contact at-risk relatives. The 883 YBCS (33.2% response rate; 40% Black) who returned a survey had 1,875 at-risk relatives and were willing to contact 1,360 (72.5%). From 853 invited at-risk relatives (up to two relatives per YBCS), 442 responded (51.6% response rate). YBCS with larger families, with a previous diagnosis of depression, and motivated to comply with recommendations from family members were likely to contact a greater number of relatives. Black YBCS were more likely to contact younger relatives and those living further than 50 miles compared to White/Other YBCS. It is feasible to recruit diverse families at risk for hereditary cancer from a population-based cancer registry. This recruitment approach can be used as a paradigm for harmonizing processes and increasing internal and external validity of large-scale public health genomic initiatives in the era of precision medicine.

Prenatal detection of congenital bilateral cataract leading to the diagnosis of Nance-Horan syndrome in the extended family.

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Reches, Adi; Yaron, Yuval; Burdon, Kathryn; Crystal-Shalit, Ornit; Kidron, Dvora; Malcov, Mira; Tepper, Ron

2007-07-01

To describe a family in which it was possible to perform prenatal diagnosis of Nance-Horan Syndrome (NHS). The fetus was evaluated by 2nd trimester ultrasound. The family underwent genetic counseling and ophthalmologic evaluation. The NHS gene was sequenced. Ultrasound demonstrated fetal bilateral congenital cataract. Clinical evaluation revealed other family members with cataract, leading to the diagnosis of NHS in the family. Sequencing confirmed a frameshift mutation (3908del11bp) in the NHS gene. Evaluation of prenatally diagnosed congenital cataract should include a multidisciplinary approach, combining experience and input from sonographer, clinical geneticist, ophthalmologist, and molecular geneticist.

Nursing diagnoses determined by first year students: a vignette study.

Science.gov (United States)

Hakverdioğlu Yönt, Gülendam; Korhan, Esra Akın; Erdemir, Firdevs; Müller-Staub, Maria

2014-02-01

The study aimed to determine the ability of first year students in identifying nursing diagnoses. In a descriptive evaluation study, an expert-validated vignette containing 18 nursing diagnoses was used. The students determined 15 nursing diagnoses. The highest percentages of diagnoses identified were disturbed sleep pattern and nutrition imbalance. Students also considered medical diagnoses as nursing diagnoses: hypertension and tachycardia. Despite the fact that students were only at the end of their first semester and had limited clinical experience, they successfully identified the majority of nursing diagnoses. Patient case study vignettes are recommended for education. To foster students' knowledge and experience, it is also suggested that evaluating nursing diagnoses in clinical practicals becomes a requirement. © 2013 NANDA International, Inc.

Childhood cancers in families with and without Lynch syndrome.

Science.gov (United States)

Heath, John A; Reece, Jeanette C; Buchanan, Daniel D; Casey, Graham; Durno, Carol A; Gallinger, Steven; Haile, Robert W; Newcomb, Polly A; Potter, John D; Thibodeau, Stephen N; Le Marchand, Loïc; Lindor, Noralane M; Hopper, John L; Jenkins, Mark A; Win, Aung Ko

2015-12-01

Inheritance of a germline mutation in one of the DNA mismatch repair (MMR) genes or the EPCAM gene is associated with an increased risk of colorectal cancer, endometrial cancer, and other adult malignancies (Lynch syndrome). The risk of childhood cancers in Lynch syndrome families, however, is not well studied. Using data from the Colon Cancer Family Registry, we compared the proportion of childhood cancers (diagnosed before 18 years of age) in the first-, second-, and third-degree relatives of 781 probands with a pathogenic mutation in one of the MMR genes; MLH1 (n = 275), MSH2 (n = 342), MSH6 (n = 99), or PMS2 (n = 55) or in EPCAM (n = 10) (Lynch syndrome families), with that of 5073 probands with MMR-deficient colorectal cancer (non-Lynch syndrome families). There was no evidence of a difference in the proportion of relatives with a childhood cancer between Lynch syndrome families (41/17,230; 0.24%) and non-Lynch syndrome families (179/94,302; 0.19%; p = 0.19). Incidence rate of all childhood cancers was estimated to be 147 (95% CI 107-206) per million population per year in Lynch syndrome families and 115 (95% CI 99.1-134) per million population per year in non-Lynch syndrome families. There was no evidence for a significant increase in the risk of all childhood cancers, hematologic cancers, brain and central nervous system cancers, Lynch syndrome-associated cancers, or other cancers in Lynch syndrome families compared with non-Lynch syndrome families. Larger studies, however, are required to more accurately define the risk of specific individual childhood cancers in Lynch syndrome families.

The Role of Birth/Previously Adopted Children in Families Choosing to Adopt Children with Special Needs.

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Mullin, Ellen Steele; Johnson, LeAnne

1999-01-01

Notes that successful child placement depends on engaging birth or previously adopted children during the adoption process, yet other children are often overlooked when parents are adopting a special-needs child. Presents a model which recognizes dynamics of strength and vulnerability and applies that model to preparing and supporting the adoptive…

Polyuria and polydipsia in a young child: diagnostic considerations and identification of novel mutation causing familial neurohypophyseal diabetes insipidus.

Science.gov (United States)

Stephen, Matthew D; Fenwick, Raymond G; Brosnan, Patrick G

2012-12-01

A 3-year 5-month-old boy was seen for second opinion regarding polydipsia and polyuria. Previously, a diagnosis of primary polydipsia was made after normal urine concentration after overnight water deprivation testing. The boy's father, paternal grandfather, and paternal aunt had diabetes insipidus treated with desmopressin acetate. Based on this young boy's symptoms, ability to concentrate urine after informal overnight water deprivation, and family history of diabetes insipidus, we performed AVP gene mutation testing. Analysis of the AVP gene revealed a novel mutation G54E that changes a normal glycine to glutamic acid, caused by a guanine to adenine change at nucleotide g.1537 (exon 2) of the AVP gene. Commonly, patients with familial neurohypophyseal diabetes insipidus (FNHDI) present within the first 6 years of life with progressively worsening polyuria and compensatory polydipsia. Since these patients have progressive loss of arginine vasopressin (AVP), they may initially respond normally to water deprivation testing and have normal pituitary findings on brain MRI. Genetic testing may be helpful in these patients, as well as preemptively diagnosing those with a mutation, thereby avoiding unnecessary surveillance of those unaffected.

Informing family members about a hereditary predisposition to cancer: attitudes and practices among clinical geneticists

NARCIS (Netherlands)

Stol, Y.; Menko, F.H.; Westerman, M.J.; Janssens, M.J.P.A.

2010-01-01

If a hereditary predisposition to colorectal cancer or breast cancer is diagnosed, most guidelines state that clinical geneticists should request index patients to inform their at-risk relatives about the existence of this condition in their family, thus enabling them to consider presymptomatic

Remission of Maternal Depression: Relations to Family Functioning and Youth Internalizing and Externalizing Symptoms

Science.gov (United States)

Foster, Cynthia Ewell; Webster, Melissa C.; Weissman, Myrna M.; Pilowsky, Daniel J.; Wickramaratne, Priya J.; Talati, Ardesheer; Rush, A. John; Hughes, Carroll W.; Garber, Judy; Malloy, Erin; Cerda, Gabrielle; Kornstein, Susan G.; Alpert, Jonathan E.; Wisniewski, Stephen R.; Trivedi, Madhukar H.; Fava, Maurizio; King, Cheryl A.

2008-01-01

Family functioning and parenting were hypothesized to mediate the relation between remission of maternal depression and children's psychosocial adjustment. Participants were 114 mother-child dyads participating in the Sequenced Treatment Alternatives to Relieve Depression Child 3-month follow-up. All mothers had been diagnosed with major…

Diagnosing impaired glucose tolerance using direct infusion mass spectrometry of blood plasma.

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Petr G Lokhov

Full Text Available The goal of this study was to evaluate the capacity for mass spectrometry of blood plasma to diagnose impaired glucose tolerance (IGT. For this study, blood plasma samples from control subjects (n = 30 and patients with IGT (n = 20 were treated with methanol and low molecular weight fraction were then analyzed by direct infusion mass spectrometry. A total of 51 metabolite ions strongly associated with IGT were detected. The area under a receiver operating characteristic (ROC curve (AUC for diagnosing IGT that was based on an analysis of all these metabolites was 0.93 (accuracy 90%, specificity 90%, and sensitivity 90%. The associated reproducibility was 85%. The metabolites identified were also consistent with risk factors previously associated with the development of diabetes. Thus, direct infusion mass spectrometry of blood plasma metabolites represents a rapid, single-step, and reproducible method for the analysis of metabolites. Moreover, this method has the potential to serve as a prototype for clinical analyses that could replace the currently used glucose tolerance test with a more patient-friendly assay.

Familial Interstitial Pulmonary Fibrosis: A Large Family with Atypical Clinical Features

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Ranji Chibbar

2010-01-01

Full Text Available A large kindred of familial pulmonary fibrosis is reported. Six members from the first two generations of this particular kindred were described more than 40 years previously; six more individuals from the third and fourth generations have also been evaluated. The proband, now 23 years of age, has mild disease; the other 11 documented affected family members all died from their disease at an average age of 37 years (range 25 to 50 years. The pathology was that of usual interstitial pneumonia, as is typical in idiopathic pulmonary fibrosis. However, the initial radiographic pattern in many of these individuals was upper lobe and nodular and, along with the young age, was atypical for idiopathic pulmonary fibrosis. Several genetic abnormalities have been associated with familial pulmonary fibrosis. The present study examined the genes coding for surfactant protein-C, ATP-binding cassette protein A3 and telomerase, and found no abnormalities.

Experiences of being diagnosed with osteoporosis

DEFF Research Database (Denmark)

Rothmann, Mette Juel; Jakobsen, P R; Myhre Jensen, Charlotte

2018-01-01

This systematic review provides synthesised knowledge and guidance to health professionals on the experiences and perspectives of being diagnosed with osteoporosis from the patient's point of view. Using individuals' experiences and meanings can promote tailored and targeted information...... an individual's experience of being diagnosed with osteoporosis at different stages, and secondly, to use a systematic approach to develop a conceptual understanding of central issues relevant for health professionals in order to provide support and guidance to patients/individuals. METHODS: This study used...... of the diagnosis based on self-perceived fracture risk, self-perceived severity of osteoporosis and at the same time, self-perceived health. CONCLUSIONS: This meta-synthesis provides knowledge for health professionals on the experiences and perspectives of being diagnosed with osteoporosis from the patient's point...

Neuropsychological and psychological interventions for people with newly diagnosed epilepsy.

Science.gov (United States)

Jackson, Cerian F; Makin, Selina M; Baker, Gus A

2015-07-22

population. This study was rated as low quality. One study assessed a specialist nurse intervention in an adult population. This study was rating as very low quality.We rated one study as having unclear risk of bias and one study as having high risk of bias.The CBI study indicated that this intervention could significantly reduce depressive symptoms in people with subthreshold depressive disorder. However, the study assessing the effectiveness of a nurse intervention found no significant benefit for depressive symptoms,but did find that in individuals with the least knowledge of epilepsy, a nurse intervention could increase their knowledge of epilepsy scores. Meta-analysis was not possible as we identified only two studies and they utilised different interventions and outcome measures.Previous research has highlighted the impact of psychological and neuropsychological difficulties experienced by people with epilepsy and the negative effect this has on their quality of life. The main finding of this review is that there is a paucity of research assessing possible neuropsychological and psychological interventions for adults with newly diagnosed epilepsy.

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.

ULTRASONOGRAPHY, AN EFFECTIVE TOOL IN DIAGNOSING PLANTAR FASCIITIS: A SYSTEMATIC REVIEW OF DIAGNOSTIC TRIALS

Science.gov (United States)

Wyland, Matthew; Applequist, Lee; Bolowsky, Erin; Klingensmith, Heather; Virag, Isaac

2016-01-01

Background Plantar fasciitis (PF) is the most common cause of heel pain that affects 10% of the general population, whether living an athletic or sedentary lifestyle. The most frequent mechanism of injury is an inflammatory response that is caused by repetitive micro trauma. Many techniques are available to diagnose PF, including the use of ultrasonography (US). Purpose The purpose of this study is to systematically review and appraise previously published articles published between the years 2000 and 2015 that evaluated the effectiveness of using US in the process of diagnosing PF, as compared to alternative diagnostic methods. Methods A total of eight databases were searched to systematically review scholarly (peer reviewed) diagnostic and intervention articles pertaining to the ability of US to diagnose PF. Results Using specific key words the preliminary search yielded 264 articles, 10 of which were deemed relevant for inclusion in the study. Two raters independently scored each article using the 15 point modified QUADAS scale. Discussion Six studies compared the diagnostic efficacy of US to another diagnostic technique to diagnose PF, and four studies focused on comparing baseline assessment of plantar fascia before subsequent intervention. The most notable US outcomes measured were plantar fascia thickness, enthesopathy, and hypoechogenicity. Conclusion US was found to be accurate and reliable compared to alternative reference standards like MRI in the diagnosis of PF. The general advantages of US (e.g. cost efficient, ease of administration, non-invasive, limited contraindications) make it a superior diagnostic modality in the diagnosis of PF. US should be considered in rehabilitation clinics to effectively diagnose PF and to accurately monitor improvement in the disease process following rehabilitation interventions. Level of Evidence 1A PMID:27757279

Age and Geographical Distribution in Families with BRCA1/BRCA2 Mutations in the Slovak Republic

Directory of Open Access Journals (Sweden)

Ciernikova Sona

2006-12-01