WorldWideScience

Sample records for large family clinical

  1. Clinical Polymorphism of Stargardt Disease in a Large Consanguineous Tunisian Family; Implications for Nosology

    Directory of Open Access Journals (Sweden)

    Leila El Matri

    2013-01-01

    Full Text Available Purpose: To describe the polymorphic expression of Stargardt disease in a large Tunisian family with clinical intra- and interfamilial variation of the condition. Methods: Twelve subjects from two related families with autosomal recessive Stargardt disease were enrolled. A detailed clinical examination including visual acuity and visual field measurement, fundus photography, fluorescein angiography, electroretinography (ERG and color vision testing was performed for all subjects. Results: The youngest child from family A manifested typical Stargardt disease while her two brothers presented with Stargardt disease-fundus flavimaculatus (STGD-FFM and her two sisters demonstrated a peculiar phenotype overlapping Stargardt disease and cone-rod dystrophy; their phenotypic manifestation corresponded well with ERG groups I, II and III, respectively. This uncommon occurrence of an age-related decline in ERG amplitude and worsening of fundus changes is suggestive of a grading pattern in Stargardt disease. Their two cousins in family B, displayed the STGD-FFM phenotype. Despite clinically similar STGD-FFM patterns in both families, age of onset and progression of the phenotype in family B differed from family A. Conclusion: This is the first report on phenotypic variation of Stargardt disease in a large Tunisian family. Regarding phenotype and severity of visual symptoms, family A demonstrated Stargardt disease at various stages of progression. In addition, STGDFFM appeared to be an independent clinical entity in family B. These findings imply that further parameters are required to classify Stargardt′s disease.

  2. 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.

  3. Familial Interstitial Pulmonary Fibrosis: A Large Family with Atypical Clinical Features

    Directory of Open Access Journals (Sweden)

    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.

  4. Clinical and linkage study of a large family with simple ectopia lentis linked to FBN1

    Energy Technology Data Exchange (ETDEWEB)

    Edwards, M.J.; Roberts, J.; Partington, M.W. [Newcastle and Northern New South Wales Genetics Service (Australia); Colley, P.W. [John Hunter Hospital, Newcastle (Australia); Hollway, G.E.; Kozman, H.M.; Mulley, J.C. [Adelaide Children`s Hospital, North Adelaide (Australia)

    1994-10-15

    Simple ectopia lentis (EL) was studied in a large family, by clinical examination and analysis of linkage to markers in the region of FBN1, the gene for fibrillin which causes Marfan syndrome on chromosome 15. No patient had clinical or echocardiographic evidence of Marfan syndrome, although there was a trend towards relatively longer measurements of height; lower segment; arm span; middle finger, hand, and foot length in the affected members of the family, compared with unaffected sibs of the same sex. Analysis of linkage to intragenic FBN1 markers was inconclusive because they were relatively uninformative. Construction of a multipoint background map from the CEPH reference families identified microsatellite markers linked closely to FBN1 which could demonstrate linkage of EL in this family to the FBN1 region. LINKMAP analysis detected a multipoint lod score of 5.68 at D15S119, a marker approximately 6 cM distal to FBN1, and a multipoint lod score of 5.04 at FBN1. The EL gene in this family is likely to be allelic to Marfan syndrome, and molecular characterization of the FBN1 mutation should now be possible. 25 refs., 6 figs., 2 tabs.

  5. Clinical and neurophysiological investigation of a large family with dominant Charcot-Marie-Tooth type 2 disease with pyramidal signs

    Directory of Open Access Journals (Sweden)

    Eduardo Luis de Aquino Neves

    2011-06-01

    Full Text Available Charcot-Marie-Tooth (CMT disease is a hereditary neuropathy of motor and sensory impairment with distal predominance. Atrophy and weakness of lower limbs are the first signs of the disease. It can be classified, with the aid of electromyography and nerve conduction studies, as demyelinating (CMT1 or axonal (CMT2. OBJECTIVE: Clinical and neurophysiological investigation of a large multigenerational family with CMT2 with autosomal dominant mode of transmission. METHOD: Fifty individuals were evaluated and neurophysiological studies performed in 22 patients. RESULTS: Thirty individuals had clinical signs of motor-sensory neuropathy. Babinski sign was present in 14 individuals. Neurophysiological study showed motor-sensory axonal polyneuropathy. CONCLUSION: The clinical and neurophysiological characteristics of this family does not differ from those observed with other forms of CMT, except for the high prevalence of Babinski sign.

  6. Family therapy and clinical psychology

    OpenAIRE

    Carr, Alan

    1995-01-01

    The results of a survey of 111 clinical psychologists in the Republic of Ireland along with some comparable data from US and UK surveys were used to address a series of questions about the link between family therapy and clinical psychology. Family therapy was not a clearly identifiable sub-specialty within clinical psychology in Ireland. Family therapy theoretical models were used by more than a quarter of the Irish sample to conceptualize their work but by less than a tenth of US and UK res...

  7. The evaluation of family functioning by the family assessment device: a systematic review of studies in adult clinical populations.

    Science.gov (United States)

    Staccini, Laura; Tomba, Elena; Grandi, Silvana; Keitner, Gabor I

    2015-03-01

    A large body of research, documenting the impact of a family's functioning on health outcomes, highlights the importance of introducing the evaluation of patients' family dynamics into clinical judgment. The Family Assessment Device (FAD) is a self-report questionnaire designed to assess specific dimensions of family functioning. This qualitative systematic review, which follows PRISMA guidelines, aimed to identify the FAD's clinimetric properties and to report the incremental utility of its inclusion in clinical settings. A thorough literature search was performed, using both computerized and manual searches, yielding a total of 148 studies that were included in this review. The FAD has been extensively used in a variety of research contexts. In the majority of studies it was able to discriminate between clinical populations and controls and among groups of patients with different illnesses. The FAD also showed good test-retest and concurrent reliability, and modest sensitivity to change after treatment. FAD-dysfunctional family functioning was related to several patient clinical outcomes, including lower recovery rates and adherence to treatment, longer recovery time, poorer quality of life, and increased risk of relapse and drop-out. The present review demonstrates that the FAD is a suitable instrument for the evaluation of family functioning both in clinical and research settings. © 2014 Family Process Institute.

  8. 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

  9. Predictive factors for familiality in a Danish clinical cohort of children with Tourette syndrome

    DEFF Research Database (Denmark)

    Debes, Nanette M M M; Hjalgrim, Helle; Skov, Liselotte

    2010-01-01

    have examined a large Danish clinical cohort of children with TS (N=307). Validated diagnostic instruments were used to assess the presence of co-morbidities in the children with TS. A three-generation pedigree was drawn for all the probands and through reports from the family, a family history...

  10. PROFAM expands Mexican family planning clinics.

    Science.gov (United States)

    1983-01-01

    Mexico's private, nonprofit social marketing company, known as PROFAM, intends to expand its family planning clinics to marginal urban areas. The clinics are part of PROFAM's push to diversify social marketing outlets for contraceptive products and other birth control methods. PROFAM expects to establish 3 new clinics, possibly including a pregnancy test laboratory, a small 1-doctor clinic, and a large clinic housing an operating room. 1 clinic will be located outside the Mexico City area, the program's traditional boundaries. The company currently runs 2 small clinics and a pregnancy testing laboratory in Ciudad Netzahualcoyti, a community of 3.5 million on Mexico City's outskirts. PROFAM recently obtaine d government approval to sell condoms in food stores, which should increase distribtuion and sales. Currently, the company sells over 1 million high quality, lubricated condoms each month, accounting for over half of the Mexican market. Distribution covers 85% of the country's drugstore. Program setbacks occurred in 1981, when the Mexican government cancelled PROFAM's sales permits for all contraceptive products except condoms. Cancelled products included an oral contraceptive and 3 vaginal spermicides. These 4 products had provided nearly 100,000 couple years of protection in 1979 and an estimated 120,000 CYP 1980. During 1979 and 1980, condoms provided about 27,000 and 60,000 CYP, respectively. PROFAM had relied heavily on the pill and spermicides because its early studies showed condoms had a negative image in Mexico, due largely to the product's association with extramarital affairs. To counter this, PROFAM launched a widespread, free product sampling program in 1979, along with a continuing educational and advertising drive. Subsequent consumer surveys revealed a marked increase in product acceptance, with PROFAM's condom becoming the most widely known brand available in Mexico.

  11. Family Ratings of Communication Largely Reflect Expressive Language and Conversation-Level Ability in People With Aphasia.

    Science.gov (United States)

    Fucetola, Robert; Tabor Connor, Lisa

    2015-11-01

    Family ratings of communication and social interactions represent an important source of information about people with aphasia. Because of the reliance on family/partner ratings as an outcome measure in many aphasia treatment studies and in the clinic, there is a great need for the validation of commonly used family/partner rating measures, and a better understanding of predictors of family ratings of communication. The communication ability of 130 individuals with aphasia due to neurologic illness was rated by family members/partners on the Communicative Effectiveness Index (CETI; Lomas et al., 1989). Information on aphasia severity, mood, quality of life, nonverbal cognitive functioning, and various demographic factors was collected. Principal component analysis confirmed a 2-factor model best represents the relationships among CETI rating items, and this model largely consists of a conversation-level ability factor. Family ratings were largely predicted by the patient's expressive (not receptive) language but also patient self-perceived quality of communication life. Family/partners typically rate the effectiveness of communication based largely on expressive language, despite the fact that other aspects of the aphasia (e.g., listening comprehension) are as important for everyday communication.

  12. Family Caregivers: Psychosocial Impacts and Clinical Needs

    Science.gov (United States)

    Daire, Andrew P.; Torres, Jennifer; Edwards, Nivischi N.

    2009-01-01

    The authors describe how 3 groups of family caregivers (spouses, daughters, and sons) are affected by the caregiving role. In addition, clinical considerations and interventions for mental health professionals working with these different groups of family caregivers are discussed. A clinical case example is also presented. (Contains 2 tables.)

  13. Clinical presentation of familial exudative vitreoretinopathy.

    Science.gov (United States)

    Ranchod, Tushar M; Ho, Lawrence Y; Drenser, Kimberly A; Capone, Antonio; Trese, Michael T

    2011-10-01

    To describe the clinical characteristics, staging and presentation of patients with familial exudative vitreoretinopathy (FEVR) in our clinical practice over the last 25 years. Case series, retrospective review. We included 273 eyes of 145 patients. Data collected from charts included gender, gestational age at birth, birthweight, age at presentation, referring diagnosis, family history, prior ocular surgery, and clinical presentation in each eye. Eyes with invasive posterior segment procedures before initial presentation were excluded. Demographics on presentation and clinical staging. Patients were slightly male predominant (57%) with a mean birthweight of 2.80 kg (range, 740 g-4.76 kg), mean gestational age of 37.8 weeks (range, 25-42), and mean age at presentation of almost 6 years (range, presentation, gestational age, and birthweight. Although a positive family history on presentation may support the diagnosis of FEVR, a negative family history is of little help. The majority of retinal folds extended radially in the temporal quadrants, but radial folds were seen in almost all quadrants. Fellow eyes demonstrated a wide variation in symmetry. The presentation of FEVR may mimic the presentation of other pediatric and adult vitreoretinal disorders, and careful examination is often crucial in making the diagnosis of FEVR. The authors have no proprietary or commercial interest in any of the materials discussed in this article. Copyright © 2011 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

  14. 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.

  15. Family Environments and Adaptation: A Clinically Applicable Typology.

    Science.gov (United States)

    Billings, Andrew G.; Moos, Rudolf H.

    1982-01-01

    Presents a typology of family environments based on multidimensional assessments of a representative sample of community families. Identified seven family types. Found family differences in environmental stressors and coping resources affected family members' levels of functioning. Discusses clinical and research applications of the typology.…

  16. FAMILIAL AMYLOID POLYNEUROPATHY——CLINICAL REPORT OF A FAMILY

    Institute of Scientific and Technical Information of China (English)

    李延峰; 郭玉璞; 池田修一; 方定华

    1996-01-01

    This paper reports a familial amyloid polyneumpathy (FAP) family in China. This family being investigated had 69 members of five generations. From the third generation, there have been 16 patients. The age of onset was about 3 to 5 decades. The initial symptoms were autonomic nerve symptcans, such as impotence, dyspepaia and diarrhoea, associated with the sensory loss of lower extremities. As the disease progressed. the upper extremities and motor ability were also involved. The duration of disease course wasabout 8-10 years, most patients died of infection and cacbexia. Sural biopsy in 3 patients had showed positive Congo red staining. From the clinical view, this FAP family is similar to FAP I found in Japan. Thetrue classification, however, should be confirmed by further genetic analysis.

  17. Hereditary neuropathy with liability to pressure palsy: an investigation in a rare and large Chinese family.

    Science.gov (United States)

    He, Yuan; Wu, Qiang; Xu, Zhipeng; Wang, Qianqian; Wang, Weili; Li, Dezhong; Liu, Wanhong; He, Xiaohua

    2012-01-01

    Hereditary neuropathy with liability to pressure palsy (HNPP), mainly associated with the peripheral myelin protein 22 (PMP22) gene, is generally an autosomal-dominant inherited peripheral neuropathy. The present large family including four generations provides an exciting opportunity to gain important insights into HNPP in China. A large 43-member family with ten members suspected to be affected by HNPP was studied. Neurologic examinations, electrophysiological and neuropathological studies and molecular genetic testing were used for these kindred. Clinically, the proband had limb hyposthenia and atrophy, and his mother showed declined tendon reflexes in the right lower limb. Electrophysiologically, sensory and motor nerve conduction velocities were generalized reduced. Sural nerve biopsy for the proband showed focal thickesning of the myelin sheaths. Furthermore, real-time quantitative PCR demonstrated that the PMP22 gene has a higher Ct value than reference gene in all suspected patients. These results indicated that the family is indeed a rare and large pedigree of HNPP caused by the deletion of PMP22 gene. Given that the suspected patient in the fourth generation is absent, this family is still worthy of further follow-up study. Copyright © 2012 S. Karger AG, Basel.

  18. A large deletion in GPR98 causes type IIC Usher syndrome in male and female members of an Iranian family.

    Science.gov (United States)

    Hilgert, N; Kahrizi, K; Dieltjens, N; Bazazzadegan, N; Najmabadi, H; Smith, R J H; Van Camp, G

    2009-04-01

    Usher syndrome (USH) is a clinically and genetically heterogeneous disease. The three recognised clinical phenotypes (types I, II and III; USH1, USH2 and USH3) are caused by mutations in nine different genes. USH2C is characterised by moderate to severe hearing loss, retinitis pigmentosa and normal vestibular function. One earlier report describes mutations in GPR98 (VLGR1) in four families segregating this phenotype. To detect the disease-causing mutation in an Iranian family segregating USH2C. In this family, five members had a phenotype compatible with Usher syndrome, and two others had nonsyndromic hearing loss. Mutation analysis of all 90 coding exons of GPR98. Consistent with these clinical findings, the five subjects with USH carried a haplotype linked to the USH2C locus, whereas the two subjects with nonsyndromic hearing loss did not. We identified a new mutation in GPR98 segregating with USH2C in this family. The mutation is a large deletion g.371657_507673del of exons 84 and 85, presumably leading to a frameshift. A large GPR98 deletion of 136 017 bp segregates with USH2C in an Iranian family. To our knowledge, this is only the second report of a GPR98 mutation, and the first report on male subjects with USH2C and a GPR98 mutation.

  19. A novel RUNX2 missense mutation predicted to disrupt DNA binding causes cleidocranial dysplasia in a large Chinese family with hyperplastic nails

    Directory of Open Access Journals (Sweden)

    Wang Xiaoqin

    2007-12-01

    Full Text Available Abstract Background Cleidocranial dysplasia (CCD is a dominantly inherited disease characterized by hypoplastic or absent clavicles, large fontanels, dental dysplasia, and delayed skeletal development. The purpose of this study is to investigate the genetic basis of Chinese family with CCD. Methods Here, a large Chinese family with CCD and hyperplastic nails was recruited. The clinical features displayed a significant intrafamilial variation. We sequenced the coding region of the RUNX2 gene for the mutation and phenotype analysis. Results The family carries a c.T407C (p.L136P mutation in the DNA- and CBFβ-binding Runt domain of RUNX2. Based on the crystal structure, we predict this novel missense mutation is likely to disrupt DNA binding by RUNX2, and at least locally affect the Runt domain structure. Conclusion A novel missense mutation was identified in a large Chinese family with CCD with hyperplastic nails. This report further extends the mutation spectrum and clinical features of CCD. The identification of this mutation will facilitate prenatal diagnosis and preimplantation genetic diagnosis.

  20. Consequences of a novel caveolin-3 mutation in a large German family.

    Science.gov (United States)

    Fischer, Dirk; Schroers, Anja; Blümcke, Ingmar; Urbach, Horst; Zerres, Klaus; Mortier, Wilhelm; Vorgerd, Matthias; Schröder, Rolf

    2003-02-01

    Mutations in the human caveolin-3 gene (cav-3) on chromosome 3p25 have been described in limb girdle muscular dystrophy, rippling muscle disease, hyperCKemia, and distal myopathy. Here, we describe the genetic, myopathological, and clinical findings in a large German family harboring a novel heterozygous mutation (GAC-->GAA) in codon 27 of the cav-3 gene. This missense mutation causes an amino acid change from asparagine to glutamate (Asp27Glu) in the N-terminal region of the Cav-3 protein, which leads to a drastic decrease of Cav-3 protein expression in skeletal muscle tissue. In keeping with an autosomal dominant mode of inheritance, this novel cav-3 mutation was found to cosegregate with neuromuscular involvement in the reported family. Ultrastructural analysis of Cav-3-deficient muscle showed an abnormal folding of the plasma membrane as well as multiple vesicular structures in the subsarcolemmal region. Neurological examination of all nine subjects from three generations harboring the novel cav-3 mutation showed clear evidence of rippling muscle disease. However, only two of these nine patients showed isolated signs of rippling muscle disease without muscle weakness or atrophy, whereas five had additional signs of a distal myopathy and two fulfilled the diagnostic criteria of a coexisting limb girdle muscular dystrophy. These findings indicate that mutations in the human cav-3 gene can lead to different and overlapping clinical phenotypes even within the same family. Different clinical phenotypes in caveolinopathies may be attributed to so far unidentified modifying factors/genes in the individual genetic background of affected patients.

  1. Family life clinics for Gulf state: Bahrain FPA helps bring a family planning breakthrough.

    Science.gov (United States)

    1979-01-01

    Family life clinics which will provide family planning services alongside maternal and child health services and general counseling are opening in health centers throughout Bahrain and in the main hospital at Manama. Bahrain, a small island in the Arabian Gulf, formed its first Family Planning Association (FPA) just 4 years ago; and this new initiative is seen as a direct result of cooperation between FPA and the government. To spread family planning awareness and services particularly to the poorer section of the population, Bahrain's FPA developed in various stages. Stage 1, in 1975, was to attract and educate volunteers and channel their interest into special committees dealing with programs; public relations; child welfare; legal and medical affairs; research; and conferences and education. Stage 2 came with the need to coordinate the work and set up a 2-person staff and an office. Stage 3 developed with the first field campaign. Door-to-door visiting was tried but was not popular with volunteers or residents. Approaching the population through community clubs and institutions was tried with much success. The new family life clinics are the latest stage of a fruitful cooperation between FPA and the Ministry of Labor and Social Affairs. In addition to the new family life clinics, an active effort to improve family planning awareness has continued using national seminars and mass media. Fund-raising is under way for a mobile,clinic which will provide health services and methods of contraception, to which there is still substantial resistance, to many on the island who have no exposure to the mass media. Wide acceptance of the need for family planning for the sake of mothers, the family, and the child is growing in Bahrain.

  2. Ultra Large Gene Families: A Matter of Adaptation or Genomic Parasites?

    Directory of Open Access Journals (Sweden)

    Philipp H. Schiffer

    2016-08-01

    Full Text Available Gene duplication is an important mechanism of molecular evolution. It offers a fast track to modification, diversification, redundancy or rescue of gene function. However, duplication may also be neutral or (slightly deleterious, and often ends in pseudo-geneisation. Here, we investigate the phylogenetic distribution of ultra large gene families on long and short evolutionary time scales. In particular, we focus on a family of NACHT-domain and leucine-rich-repeat-containing (NLR-genes, which we previously found in large numbers to occupy one chromosome arm of the zebrafish genome. We were interested to see whether such a tight clustering is characteristic for ultra large gene families. Our data reconfirm that most gene family inflations are lineage-specific, but we can only identify very few gene clusters. Based on our observations we hypothesise that, beyond a certain size threshold, ultra large gene families continue to proliferate in a mechanism we term “run-away evolution”. This process might ultimately lead to the failure of genomic integrity and drive species to extinction.

  3. Accuracy of family history of cancer : clinical genetic implications

    NARCIS (Netherlands)

    Sijmons, RH; Boonstra, AE; Reefhuis, J; Hordijk-Hos, JM; de Walle, HEK; Oosterwijk, JC; Cornel, MC

    Family medical history is the cornerstone of clinical genetic diagnosis and management in cases of familial cancer. The soundness of medical decisions can be compromised if reports by the family on affected relatives are inaccurate. Although very time consuming, family medical histories are

  4. Familial forms of diabetes insipidus: clinical and molecular characteristics.

    Science.gov (United States)

    Babey, Muriel; Kopp, Peter; Robertson, Gary L

    2011-07-05

    Over the past two decades, the genetic and molecular basis of familial forms of diabetes insipidus has been elucidated. Diabetes insipidus is a clinical syndrome characterized by the excretion of abnormally large volumes of diluted urine (polyuria) and increased fluid intake (polydipsia). The most common type of diabetes insipidus is caused by lack of the antidiuretic hormone arginine vasopressin (vasopressin), which is produced in the hypothalamus and secreted by the neurohypophysis. This type of diabetes insipidus is referred to here as neurohypophyseal diabetes insipidus. The syndrome can also result from resistance to the antidiuretic effects of vasopressin on the kidney, either at the level of the vasopressin 2 receptor or the aquaporin 2 water channel (which mediates the re-absorption of water from urine), and is referred to as renal or nephrogenic diabetes insipidus. Differentiation between these two types of diabetes insipidus and primary polydipsia can be difficult owing to the existence of partial as well as complete forms of vasopressin deficiency or resistance. Seven different familial forms of diabetes insipidus are known to exist. The clinical presentation, genetic basis and cellular mechanisms responsible for them vary considerably. This information has led to improved methods of differential diagnosis and could provide the basis of new forms of therapy.

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

    Directory of Open Access Journals (Sweden)

    Hemminki Kari

    2005-01-01

    routine clinical recommendations, because practically all cancers show a familial effect and the risks are high for some of the rare neoplasms. The implementation of a unified management plan for familial cancers at large will be a major challenge to the clinical genetic counselling community.

  6. [Psychopathology in families: an integral approach via the family outpatient clinic].

    Science.gov (United States)

    van Veen, S C; Batelaan, N M; Wesseldijk, L W; Rozeboom, J; Middeldorp, C M

    2016-01-01

    Psychiatric disorders run in families. To bridge the gap between child and youth psychiatry and adult psychiatry, GGZ inGeest has started screening parents of new registered children for psychopathology - and if indicated - offers parents treatment in the same department as their children. To examine the feasibility and usefulness of this procedure, to investigate how many parents agree to screening, further diagnostics and treatment, and to find out how many parents have in fact suffered from recent psychiatric problems. Prior to the children's first appointment, the parents were asked to complete a questionnaire, the Adult Self Report (ASR), about their own problems. If these scores were (sub)clinical, parents were invited to participate in a telephonic interview. This consisted of the Composite International Diagnostic Interview (CIDI) and Conners' Adult ADHD Rating Scales (CAARS). If the results indicate psychopathology, further psychiatric assessment and, if necessary, treatment is offered. The first response was 55.7% and, if indicated, most of the parents agreed on further diagnostics. On the ASR 2 out of 5 mothers (42.1%) and 1 out of 5 fathers (21.8%) reported problems that could point to a psychiatric disorder. According to the ASR, within this high-risk group 37% of the mothers met the criteria for an axis I diagnosis (less than one month earlier) compared to 70.6% of the fathers. A mood disorder was the primary diagnosis for women, whereas men most often suffered from an anxiety disorder. In total, 19.1% of the parents screened were suffering from recent psychopathology and 75% of this group agreed to receive mental health care (treatment at the family outpatient clinic or referred to another clinic). Implementation of the family outpatient clinic scheme is feasible. However, further efforts are needed in order to reach a larger group of parents, particularly fathers. The family outpatient clinic is useful because parents who suffer from psychopathology

  7. THE DEVELOPMENT OF SERVICES IN THE FIELD OF SOCIAL WORK WITH LARGE FAMILIES

    Directory of Open Access Journals (Sweden)

    Юлія Ібрагім

    2015-09-01

    Full Text Available The development of social services in the field of social work with large families is analyzed and their basic functions are defined in the article. The necessity of implementation of the system of guaranteed social and educational support to families depending on the type of large families, which would be provided by governmental and nongovernmental organizations, including public organizations are considered and analyzed. The statistical data on the number and proportion of large families in Ukraine in general and namely in Kharkiv region are provided. The principle of subsidiarity, which is the basis of the full development of the state and is based on the redistribution of responsibility for the formation of family welfare from the state to the family, and receipt of primary social and pedagogical support of public organizations in case you are unable to solve certain problems is disclosed. The article also presents practical experience in providing social and educational support by public organization Association of large families “AMMA”” in Kharkiv.

  8. Influence of family history of major depression, bipolar disorder, and suicide on clinical features in patients with major depression and bipolar disorder.

    Science.gov (United States)

    Serretti, Alessandro; Chiesa, Alberto; Calati, Raffaella; Linotte, Sylvie; Sentissi, Othman; Papageorgiou, Konstantinos; Kasper, Siegfried; Zohar, Joseph; De Ronchi, Diana; Mendlewicz, Julien; Amital, Daniela; Montgomery, Stuart; Souery, Daniel

    2013-03-01

    The extent to which a family history of mood disorders and suicide could impact on clinical features of patients suffering from major depression (MD) and bipolar disorder (BD) has received relatively little attention so far. The aim of the present work is, therefore, to assess the clinical implications of the presence of at least one first- and/or second-degree relative with a history of MD, BD and suicide in a large sample of patients with MD or BD. One thousand one hundred and fifty-seven subjects with MD and 686 subjects with BD were recruited within the context of two large projects. The impact of a family history of MD, BD, and suicide-considered both separately and together-on clinical and socio-demographic variables was investigated. A family history of MD, BD, and suicide was more common in BD patients than in MD patients. A positive family history of mood disorders and/or suicide as well as a positive family history of MD and BD separately considered, but not a positive history of suicide alone, were significantly associated with a comorbidity with several anxiety disorders and inversely associated with age of onset. The clinical implications as well as the limitations of our findings are discussed.

  9. Familial hemiplegic migraine: a clinical comparison of families linked and unlinked to chromosome 19.DMG RG.

    Science.gov (United States)

    Terwindt, G M; Ophoff, R A; Haan, J; Frants, R R; Ferrari, M D

    1996-05-01

    We compared the clinical characteristics of 46 patients from three unrelated families with familial hemiplegic migraine (FHM) linked to chromosome 19, with those of 20 patients from two families with FHM not linked to chromosome 19. We found no significant differences for age at onset, frequency and duration of attacks, duration of the paresis, and occurrence of basilar migraine symptoms. In the linked families, significantly more patients reported unconsciousness during attacks (39% vs 15%; p < 0.05) and provocation of attacks by mild head trauma (70% vs 40%; p < 0.05). In one linked family patients also displayed chronic progressive cerebellar ataxia, whereas in one unlinked family benign infantile convulsions occurred in addition to FHM. Interestingly, so far an association with cerebellar ataxia was only described in chromosome 19-linked families. FHM linked to chromosome 19 and FHM unlinked to chromosome 19 do not differ with respect to clinical features.

  10. [Genetic, epidemiologic and clinical study of familial prostate cancer].

    Science.gov (United States)

    Valéri, Antoine

    2002-01-01

    Prostate cancer (CaP) is the most frequent cancer among men over 50 and its frequency increases with age. It has become a significant public health problem due to the ageing population. Epidemiologists report familial aggregation in 15 to 25% of cases and inherited susceptibility with autosomal dominant or X-linked model in 5 to 10% of cases. Clinical and biological features of familial CaP remain controversial. To perform: (1) Genetic study of familial Cap (mapping of susceptibility genes), (2) epidemiologic study (prevalence, associated cancers in the genealogy, model of transmission), and clinical study of familial CaP. (I) conducting a nationwide family collection (ProGène study) with 2+ CaP we have performed a genomewide linkage analysis and identified a predisposing locus on 1q42.2-43 named PCaP (Predisposing to Cancer of the Prostate); (II) conducting a systematic genealogic analysis of 691 CaP followed up in 3 University departments of urology (Hospitals of Brest, Paris St Louis and Nancy) we have observed: (1) 14.2% of familial and 3.6% of hereditary CaP, (2) a higher risk of breast cancer in first degree relatives of probands (CaP+) in familial CaP than in sporadic CaP and in early onset CaP (< 55 years) when compared with late onset CaP ([dG]75 years), (3) an autosomal dominant model with brother-brother dependance), (4) the lack of specific clinical or biological feature (except for early onset) in hereditary CaP when compared with sporadic CaP. (1) The mapping of a susceptibility locus will permit the cloning of a predisposing gene on 1q42.2-43, offer the possibility of genetic screening in families at risk and permit genotype/phenotype correlation studies; (2) the transmission model will improve parameteric linkage studies; (3) the lack of distinct specific clinical patterns suggest diagnostic and follow up modalities for familial and hereditary CaP similar to sporadic cancer while encouraging early screening of families at risk, given the earlier

  11. Formative Evaluation of Clinician Experience with Integrating Family History-Based Clinical Decision Support into Clinical Practice

    Directory of Open Access Journals (Sweden)

    Megan Doerr

    2014-03-01

    Full Text Available Family health history is a leading predictor of disease risk. Nonetheless, it is underutilized to guide care and, therefore, is ripe for health information technology intervention. To fill the family health history practice gap, Cleveland Clinic has developed a family health history collection and clinical decision support tool, MyFamily. This report describes the impact and process of implementing MyFamily into primary care, cancer survivorship and cancer genetics clinics. Ten providers participated in semi-structured interviews that were analyzed to identify opportunities for process improvement. Participants universally noted positive effects on patient care, including increases in quality, personalization of care and patient engagement. The impact on clinical workflow varied by practice setting, with differences observed in the ease of integration and the use of specific report elements. Tension between the length of the report and desired detail was appreciated. Barriers and facilitators to the process of implementation were noted, dominated by the theme of increased integration with the electronic medical record. These results fed real-time improvement cycles to reinforce clinician use. This model will be applied in future institutional efforts to integrate clinical genomic applications into practice and may be useful for other institutions considering the implementation of tools for personalizing medical management.

  12. Genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of the EVR1 locus on chromosome 11q in a large autosomal dominant pedigree

    OpenAIRE

    Bamashmus, M; Downey, L; Inglehearn, C; Gupta, S; Mansfield, D

    2000-01-01

    BACKGROUND/AIMS—Familial exudative vitreoretinopathy (FEVR) is associated with mutations in the Norrie disease gene in X linked pedigrees and with linkage to the EVR1 locus at 11q13 in autosomal dominant cases. A large autosomal dominant FEVR family was studied, both clinically and by linkage analysis, to determine whether it differed from the known forms of FEVR.
METHODS—Affected members and obligate gene carriers from this family were examined by slit lamp biomicroscopy, indirect ophthalmos...

  13. A retrospective study of clinical and mutational findings in 45 Danish families with ectodermal dysplasia.

    Science.gov (United States)

    Tiedemann Svendsen, Mathias; Henningsen, Emil; Hertz, Jens Michael; Vestergaard Grejsen, Dorthe; Bygum, Anette

    2014-09-01

    Ectodermal dysplasias form a complex, nosologic group of diseases with defects in at least 2 ectodermal structures. A retrospective study of patients with ectodermal dysplasia seen at our department over a period of 19 years (1994-2013) was performed. The study population consisted of 67 patients 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 ectodermal dysplasia cohort focusing on clinical manifestations in combination with mutational analysis. We recommend a nationwide study to estimate the prevalence of the ectodermal dysplasia and to ensure relevant molecular genetic testing which may form the basis of a national ectodermal dysplasia database.

  14. A novel COL4A3 mutation causes autosomal-recessive Alport syndrome in a large Turkish family.

    Science.gov (United States)

    Uzak, Asli Subasioglu; Tokgoz, Bulent; Dundar, Munis; Tekin, Mustafa

    2013-03-01

    Alport syndrome (AS) is a genetically heterogeneous disorder that is characterized by hematuria, progressive renal failure typically resulting in end-stage renal disease, sensorineural hearing loss, and variable ocular abnormalities. Only 15% of cases with AS are autosomal recessive and are caused by mutations in the COL4A3 or COL4A4 genes, encoding type IV collagen. Clinical data in a large consanguineous family with four affected members were reviewed, and genomic DNA was extracted. For mapping, 15 microsatellite markers flanking COL4A3, COL4A4, and COL4A5 in 16 family members were typed. For mutation screening, all coding exons of COL4A3 were polymerase chain reaction- amplified and Sanger-sequenced from genomic DNA. The disease locus was mapped to chromosome 2q36.3, where COL4A3 and COL4A4 reside. Sanger sequencing revealed a novel mis-sense mutation (c.2T>C; p.M1T) in exon 1 of COL4A3. The identified nucleotide change was not found in 100 healthy ethnicity-matched controls via Sanger sequencing. We present a large consanguineous Turkish family with AS that was found to have a COL4A3 mutation as the cause of the disease. Although the relationship between the various genotypes and phenotypes in AS has not been fully elucidated, detailed clinical and molecular analyses are helpful for providing data to be used in genetic counseling. It is important to identify new mutations to clarify their clinical importance, to assess the prognosis of the disease, and to avoid renal biopsy for final diagnosis.

  15. Study of a large Anglo-Saxon family with beta-thalassaemia trait.

    Science.gov (United States)

    Raik, E; Powell, E; Gordon, S

    1976-01-01

    Study of a large Anglo-Saxon family with beta-thalassaemia trait revealed evidence of consanguinity, moreover both branches of the family shared a Spanish ancestor. The manifestations of the disorder were varied in severity and yet the degree of severity appeared to breed true within any individual part of the family. Our explanation for the inheritance pattern observed in the family was to postulate the existence of two non-allelic genes influencing the rate of beta-chain synthesis.

  16. Impact of pharmacy student interventions in an urban family medicine clinic.

    Science.gov (United States)

    Ginzburg, Regina

    2014-06-17

    To determine the number of interventions made by pharmacy students at an urban family medicine clinic and the acceptance rate of these recommendations by the healthcare providers. The secondary objective was to investigate the cost avoidance value of the interventions. A prospective, unblinded study was conducted to determine the number and cost avoidance value of clinical interventions made by pharmacy students completing advanced pharmacy practice experiences (APPEs) in an urban family medicine clinic. Eighteen students completed this experience in the 8 months studied. Of the 718 interventions performed, 77% were accepted by physicians, including 58% of the 200 interventions that required immediate action. Projected avoidance was estimated at $61,855. The clinical interventions by pharmacy students were generally well received by healthcare providers and resulted in significant cost savings. Pharmacy students can play an important role in a family medicine clinic.

  17. Do mobile family planning clinics facilitate vasectomy use in Nepal?

    Science.gov (United States)

    Padmadas, Sabu S; Amoako Johnson, Fiifi; Leone, Tiziana; Dahal, Govinda P

    2014-06-01

    Nepal has a distinct topography that makes reproductive health and family planning services difficult to access, particularly in remote mountain and hill regions where over a quarter of modern contraceptive users rely exclusively on vasectomy. A three-level random intercept logistic regression analysis was applied on data from the 2011 Nepal Demographic and Health Survey to investigate the extent of influence of mobile family planning clinics on the odds of a male or a female sterilization, adjusting for relevant characteristics including ecological differences and random effects. The analyses included a sample of 2014 sterilization users, considering responses from currently married women of reproductive ages. The odds of a male sterilization were significantly higher in a mobile clinic than those in a government hospital (odds ratio, 1.65; 95% confidence interval, 1.21-2.25). The effects remained unaltered and statistically significant after adjusting for sociodemographic and clustering effects. Random effects were highly significant, which suggest the extent of heterogeneity in vasectomy use at the community and district levels. The odds of vasectomy use in mobile clinics were significantly higher among couples residing in hill and mountain regions and among those with three or more sons or those with only daughters. Mobile clinics significantly increase the uptake of vasectomy in hard-to-reach areas of Nepal. Reproductive health interventions should consider mobile clinics as an effective strategy to improve access to male-based modern methods and enhance gender equity in family planning. Family planning interventions in hard-to-reach communities could consider mobile clinic as an effective strategy to promote male-based modern methods. Improving access to vasectomy could substantially reduce unmet need for family planning in countries experiencing rapid fertility transition. Copyright © 2014 Elsevier Inc. All rights reserved.

  18. New Sequences with Low Correlation and Large Family Size

    Science.gov (United States)

    Zeng, Fanxin

    In direct-sequence code-division multiple-access (DS-CDMA) communication systems and direct-sequence ultra wideband (DS-UWB) radios, sequences with low correlation and large family size are important for reducing multiple access interference (MAI) and accepting more active users, respectively. In this paper, a new collection of families of sequences of length pn-1, which includes three constructions, is proposed. The maximum number of cyclically distinct families without GMW sequences in each construction is φ(pn-1)/n·φ(pm-1)/m, where p is a prime number, n is an even number, and n=2m, and these sequences can be binary or polyphase depending upon choice of the parameter p. In Construction I, there are pn distinct sequences within each family and the new sequences have at most d+2 nontrivial periodic correlation {-pm-1, -1, pm-1, 2pm-1,…,dpm-1}. In Construction II, the new sequences have large family size p2n and possibly take the nontrivial correlation values in {-pm-1, -1, pm-1, 2pm-1,…,(3d-4)pm-1}. In Construction III, the new sequences possess the largest family size p(d-1)n and have at most 2d correlation levels {-pm-1, -1,pm-1, 2pm-1,…,(2d-2)pm-1}. Three constructions are near-optimal with respect to the Welch bound because the values of their Welch-Ratios are moderate, WR_??_d, WR_??_3d-4 and WR_??_2d-2, respectively. Each family in Constructions I, II and III contains a GMW sequence. In addition, Helleseth sequences and Niho sequences are special cases in Constructions I and III, and their restriction conditions to the integers m and n, pm≠2 (mod 3) and n≅0 (mod 4), respectively, are removed in our sequences. Our sequences in Construction III include the sequences with Niho type decimation 3·2m-2, too. Finally, some open questions are pointed out and an example that illustrates the performance of these sequences is given.

  19. Implementing Trauma-Informed Partner Violence Assessment in Family Planning Clinics.

    Science.gov (United States)

    Decker, Michele R; Flessa, Sarah; Pillai, Ruchita V; Dick, Rebecca N; Quam, Jamie; Cheng, Diana; McDonald-Mosley, Raegan; Alexander, Kamila A; Holliday, Charvonne N; Miller, Elizabeth

    2017-09-01

    Intimate partner violence (IPV) and reproductive coercion (RC) are associated with poor reproductive health. Little is known about how family planning clinics implement brief IPV/RC assessment interventions in practice. We describe the uptake and impact of a brief, trauma-informed, universal IPV/RC assessment and education intervention. Intervention implementation was evaluated via a mixed methods study among women ages 18 and up receiving care at one of two family planning clinics in greater Baltimore, MD. This mixed methods study entailed a quasi-experimental, single group pretest-posttest study with family planning clinic patients (baseline and exit survey n = 132; 3-month retention n = 68; retention rate = 52%), coupled with qualitative interviews with providers and patients (total n = 35). Two thirds (65%) of women reported receiving at least one element of the intervention on their exit survey immediately following the clinic-visit. Patients reported that clinic-based IPV assessment is helpful, irrespective of IPV history. Relative to those who reported neither, participants who received either intervention element reported greater perceived caring from providers, confidence in provider response to abusive relationships, and knowledge of IPV-related resources at follow-up. Providers and patients alike described the educational card as a valuable tool. Participants described trade-offs of paper versus in-person, electronic medical record-facilitated screening, and patient reluctance to disclose current situations of abuse. In real-world family planning clinic settings, a brief assessment and support intervention was successful in communicating provider caring and increasing knowledge of violence-related resources, endpoints previously deemed valuable by IPV survivors. Results emphasize the merit of universal education in IPV/RC clinical interventions over seeking IPV disclosure.

  20. The Perceptions and Views on Family Interaction and Relationships of Middle Children from Large Families: An Informal Mini Survey.

    Science.gov (United States)

    Hall, Elena C. Thomas

    In Adler's Theory of Individual Psychology the significance of birth order position in the family constellation depends on the interpretation given to it by the child, which in turn influences his character. This study surveyed the perceptions of middle children in large families. Subjects (N=13) were middle children in families of more than five…

  1. Genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of the EVR1 locus on chromosome 11q in a large autosomal dominant pedigree.

    Science.gov (United States)

    Bamashmus, M A; Downey, L M; Inglehearn, C F; Gupta, S R; Mansfield, D C

    2000-04-01

    Familial exudative vitreoretinopathy (FEVR) is associated with mutations in the Norrie disease gene in X linked pedigrees and with linkage to the EVR1 locus at 11q13 in autosomal dominant cases. A large autosomal dominant FEVR family was studied, both clinically and by linkage analysis, to determine whether it differed from the known forms of FEVR. Affected members and obligate gene carriers from this family were examined by slit lamp biomicroscopy, indirect ophthalmoscopy, and in some cases fluorescein angiography. Patient DNAs were genotyped for markers at the EVR1 locus on chromosome 11q13. The clinical evaluation in this family is consistent with previous descriptions of FEVR pedigrees, but linkage analysis proves that it has a form of FEVR genetically distinct from the EVR1 locus on 11q. This proves that there are at least three different loci associated with comparable FEVR phenotypes, a situation similar to that existing for many forms of retinal degeneration.

  2. Gender diversity in top-management positions in large family and nonfamily businesses

    OpenAIRE

    Kay, Rosemarie; Schlömer-Laufen, Nadine

    2016-01-01

    (Why) does the sex ratio in top-management positions in large family and nonfamily businesses differ? Using a unique data set and estimating (fractional) logit regressions we show that the female share in top-management positions in family businesses exceeds the one in nonfamily businesses. One reason is the selection mechanism social homophily from which females in family businesses benefit more because of a higher female share in the decision making body in family businesses. Another reason...

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

    Science.gov (United States)

    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…

  4. Experience of domestic violence routine screening in Family Planning NSW clinics.

    Science.gov (United States)

    Hunter, Tara; Botfield, Jessica R; Estoesta, Jane; Markham, Pippa; Robertson, Sarah; McGeechan, Kevin

    2017-04-01

    This study reviewed implementation of the Domestic Violence Routine Screening (DVRS) program at Family Planning NSW and outcomes of screening to determine the feasibility of routine screening in a family planning setting and the suitability of this program in the context of women's reproductive and sexual health. A retrospective review of medical records was undertaken of eligible women attending Family Planning NSW clinics between 1 January and 31 December 2015. Modified Poisson regression was used to estimate prevalence ratios and assess association between binary outcomes and client characteristics. Of 13440 eligible women, 5491 were screened (41%). Number of visits, clinic attended, age, employment status and disability were associated with completion of screening. In all, 220 women (4.0%) disclosed domestic violence. Factors associated with disclosure were clinic attended, age group, region of birth, employment status, education and disability. Women who disclosed domestic violence were more likely to have discussed issues related to sexually transmissible infections in their consultation. All women who disclosed were assessed for any safety concerns and offered a range of suitable referral options. Although routine screening may not be appropriate in all health settings, given associations between domestic violence and sexual and reproductive health, a DVRS program is considered appropriate in sexual and reproductive health clinics and appears to be feasible in a service such as Family Planning NSW. Consistent implementation of the program should continue at Family Planning NSW and be expanded to other family planning services in Australia to support identification and early intervention for women affected by domestic violence.

  5. The clinical impact of a positive family history of psychosis or mental ...

    African Journals Online (AJOL)

    Background: A family history of psychosis is associated with negative clinical characteristics of psychosis. Aim: We aimed to determine the relationship between a family history (in first-degree relatives) of psychosis (FHP) or of any mental illness (FHM), and the clinical features (including cannabis use) of first episode early ...

  6. A family-wide RT-PCR assay for detection of paramyxoviruses and application to a large-scale surveillance study.

    Directory of Open Access Journals (Sweden)

    Sander van Boheemen

    Full Text Available Family-wide molecular diagnostic assays are valuable tools for initial identification of viruses during outbreaks and to limit costs of surveillance studies. Recent discoveries of paramyxoviruses have called for such assay that is able to detect all known and unknown paramyxoviruses in one round of PCR amplification. We have developed a RT-PCR assay consisting of a single degenerate primer set, able to detect all members of the Paramyxoviridae family including all virus genera within the subfamilies Paramyxovirinae and Pneumovirinae. Primers anneal to domain III of the polymerase gene, with the 3' end of the reverse primer annealing to the conserved motif GDNQ, which is proposed to be the active site for nucleotide polymerization. The assay was fully optimized and was shown to indeed detect all available paramyxoviruses tested. Clinical specimens from hospitalized patients that tested positive for known paramyxoviruses in conventional assays were also detected with the novel family-wide test. A high-throughput fluorescence-based RT-PCR version of the assay was developed for screening large numbers of specimens. A large number of samples collected from wild birds was tested, resulting in the detection of avian paramyxoviruses type 1 in both barnacle and white-fronted geese, and type 8 in barnacle geese. Avian metapneumovirus type C was found for the first time in Europe in mallards, greylag geese and common gulls. The single round family-wide RT-PCR assay described here is a useful tool for the detection of known and unknown paramyxoviruses, and screening of large sample collections from humans and animals.

  7. Clinical characteristics and outcomes of familial and idiopathic ...

    African Journals Online (AJOL)

    Clinical characteristics and outcomes of familial and idiopathic dilated cardiomyopathy in Cape Town: A comparative study of 120 cases followed up over 14 years. NBA Ntusi, M Badri, F Gumedze, A Wonkam, BM Mayosi ...

  8. Evaluation of service quality in family planning clinics in Lusaka, Zambia.

    Science.gov (United States)

    Hancock, Nancy L; Vwalika, Bellington; Sitali, Elizabeth Siyama; Mbwili-Muleya, Clara; Chi, Benjamin H; Stuart, Gretchen S

    2015-10-01

    To determine the quality of contraceptive services in family planning clinics in Lusaka, Zambia, using a standardized approach. We utilized the Quick Investigation of Quality, a cross-sectional survey tool consisting of a facility assessment, client-provider observation and client exit interview, in public-sector family planning clinics. Data were collected on availability of seven contraceptive methods, information given to clients, interpersonal relations between providers and clients, providers' technical competence and mechanisms for continuity and follow-up. Data were collected from five client-provider observations and client exit interviews in each of six public-sector family planning clinics. All clinics had at least two contraceptive methods continuously available for the preceding 6 months. Most providers asked clients about concerns with their contraceptive method (80%) and told clients when to return to the clinic (87%). Most clients reported that the provider advised what to do if a problem develops (93%), described possible side effects (89%), explained how to use the method effectively (85%) and told them when to come for follow-up (83%). Clients were satisfied with services received (93%). This application of the Quick Investigation of Quality showed that the participating family planning clinics in Lusaka, Zambia, were prepared to offer high-quality services with the available commodities and that clients were satisfied with the received services. Despite the subjective client satisfaction, quality improvement efforts are needed to increase contraceptive availability. Although clients perceived the quality of care received to be high, family planning service quality could be improved to continuously offer the full spectrum of contraceptive options. The Quick Investigation of Quality was easily implemented in Lusaka, Zambia, and this simple approach could be utilized in a variety of settings as a modality for quality improvement. Copyright © 2015

  9. Airfoil family design for large offshore wind turbine blades

    Science.gov (United States)

    Méndez, B.; Munduate, X.; San Miguel, U.

    2014-06-01

    Wind turbine blades size has scaled-up during last years due to wind turbine platform increase especially for offshore applications. The EOLIA project 2007-2010 (Spanish Goverment funded project) was focused on the design of large offshore wind turbines for deep waters. The project was managed by ACCIONA Energia and the wind turbine technology was designed by ACCIONA Windpower. The project included the design of a wind turbine airfoil family especially conceived for large offshore wind turbine blades, in the order of 5MW machine. Large offshore wind turbines suffer high extreme loads due to their size, in addition the lack of noise restrictions allow higher tip speeds. Consequently, the airfoils presented in this work are designed for high Reynolds numbers with the main goal of reducing blade loads and mantainig power production. The new airfoil family was designed in collaboration with CENER (Spanish National Renewable Energy Centre). The airfoil family was designed using a evolutionary algorithm based optimization tool with different objectives, both aerodynamic and structural, coupled with an airfoil geometry generation tool. Force coefficients of the designed airfoil were obtained using the panel code XFOIL in which the boundary layer/inviscid flow coupling is ineracted via surface transpiration model. The desing methodology includes a novel technique to define the objective functions based on normalizing the functions using weight parameters created from data of airfoils used as reference. Four airfoils have been designed, here three of them will be presented, with relative thickness of 18%, 21%, 25%, which have been verified with the in-house CFD code, Wind Multi Block WMB, and later validated with wind tunnel experiments. Some of the objectives for the designed airfoils concern the aerodynamic behavior (high efficiency and lift, high tangential coefficient, insensitivity to rough conditions, etc.), others concern the geometry (good for structural design

  10. Airfoil family design for large offshore wind turbine blades

    International Nuclear Information System (INIS)

    Méndez, B; Munduate, X; Miguel, U San

    2014-01-01

    Wind turbine blades size has scaled-up during last years due to wind turbine platform increase especially for offshore applications. The EOLIA project 2007-2010 (Spanish Goverment funded project) was focused on the design of large offshore wind turbines for deep waters. The project was managed by ACCIONA Energia and the wind turbine technology was designed by ACCIONA Windpower. The project included the design of a wind turbine airfoil family especially conceived for large offshore wind turbine blades, in the order of 5MW machine. Large offshore wind turbines suffer high extreme loads due to their size, in addition the lack of noise restrictions allow higher tip speeds. Consequently, the airfoils presented in this work are designed for high Reynolds numbers with the main goal of reducing blade loads and mantainig power production. The new airfoil family was designed in collaboration with CENER (Spanish National Renewable Energy Centre). The airfoil family was designed using a evolutionary algorithm based optimization tool with different objectives, both aerodynamic and structural, coupled with an airfoil geometry generation tool. Force coefficients of the designed airfoil were obtained using the panel code XFOIL in which the boundary layer/inviscid flow coupling is ineracted via surface transpiration model. The desing methodology includes a novel technique to define the objective functions based on normalizing the functions using weight parameters created from data of airfoils used as reference. Four airfoils have been designed, here three of them will be presented, with relative thickness of 18%, 21%, 25%, which have been verified with the in-house CFD code, Wind Multi Block WMB, and later validated with wind tunnel experiments. Some of the objectives for the designed airfoils concern the aerodynamic behavior (high efficiency and lift, high tangential coefficient, insensitivity to rough conditions, etc.), others concern the geometry (good for structural design

  11. [Added value of family practitioners' supervision of junior doctors in a walk-in clinic].

    Science.gov (United States)

    Perdrix, J; Gubser, R; Gilgien, W; Bischoff, T

    2011-05-18

    The pending workforce crisis in family medicine has triggered various initiatives. This article describes the PMU-FLON walk-in clinic, a project of the Institute of General Medicine University of Lausanne. The working conditions in this clinic are close to that of a family practice. Doctors in training are supervised by family doctors who work part-time in the clinic. The objective is to improve training in the various fields of family medicine, from technical skills (improving optimal use of diagnostic tools), to integrating patients' requests in a more global patient-centered approach. This new educational model allows doctors in training to benefit from the specific approaches of different trainers. It will contribute to promoting quality family medicine in the future.

  12. The first 5 years of the family clinic for HIV at Tygerberg Hospital: Family demographics, survival of children and early impact of antiretroviral therapy

    NARCIS (Netherlands)

    van Kooten Niekerk, N. K. M.; Knies, M. M.; Howard, J.; Rabie, H.; Zeier, M.; van Rensburg, A.; Frans, N.; Schaaf, H. S.; Fatti, G.; Little, F.; Cotton, M. F.

    2006-01-01

    Background: Family clinics address the problems of HIV-infected children and their families. The aims were to document demographics of the children and caregivers attending the Family Clinic for HIV at Tygerberg Academic Hospital (TAH) and to investigate factors affecting disease progression in

  13. Clinical, serologic, and immunogenetic features of familial idiopathic inflammatory myopathy

    NARCIS (Netherlands)

    Rider, L. G.; Gurley, R. C.; Pandey, J. P.; Garcia de la Torre, I.; Kalovidouris, A. E.; O'Hanlon, T. P.; Love, L. A.; Hennekam, R. C.; Baumbach, L. L.; Neville, H. E.; Garcia, C. A.; Klingman, J.; Gibbs, M.; Weisman, M. H.; Targoff, I. N.; Miller, F. W.

    1998-01-01

    OBJECTIVE: To describe the clinical, serologic, and immunogenetic features of familial idiopathic inflammatory myopathy (IIM) and to compare these with the features of sporadic IIM. METHODS: Clinical signs and symptoms, autoantibodies, HLA-DRB1 and DQA1 alleles, and GM/KM phenotypes were compared

  14. Frequency and clinical genetics of familial dilated cardiomyopathy in ...

    African Journals Online (AJOL)

    Frequency and clinical genetics of familial dilated cardiomyopathy in Cape Town: Implications for the evaluation of patients with unexplained cardiomyopathy. NBA Ntusi, A Wonkam, G Shaboodien, M Badri, BM Mayosi ...

  15. Increased clinical anticipation with maternal transmission in benign adult familial myoclonus epilepsy in Japan.

    Science.gov (United States)

    Hitomi, Takefumi; Kobayashi, Katsuya; Jingami, Naoto; Nakagawa, Tomokazu; Imamura, Hisaji; Matsumoto, Riki; Kondo, Takayuki; Chin, Kazuo; Takahashi, Ryosuke; Ikeda, Akio

    2013-12-01

    We recently reported clinical anticipation in Japanese families with benign adult familial myoclonus epilepsy (BAFME). However, it remains unknown whether clinical anticipation is predominantly associated with paternal or maternal transmission. We investigated the relationship between gender of the transmitting parent and clinical anticipation in nine BAFME families. Clinical anticipation regarding either cortical tremor or generalised seizures was observed in all 12 parent/child pairs (8 mother/child pairs and 4 father/child pairs). Moreover, a higher degree of clinical anticipation was associated with maternal transmission than with paternal transmission (p=0.03). Although a causative gene for BAFME still remains unknown, our finding suggests that BAFME and diseases with unstable expanding repeats, including those in non-coding regions, might share a similar molecular mechanism because such diseases often show clinical anticipation with maternal transmission.

  16. Families' perceptions of the contribution of intellectual disability clinical nurse specialists in Ireland.

    Science.gov (United States)

    Doody, Owen; Slevin, Eamonn; Taggart, Laurence

    2018-01-01

    To explore families' perceptions of the contribution of clinical nurse specialists in intellectual disability nursing in Ireland. Clinical nurse specialists roles have developed over the years and are seen as complex and multifaceted, causing confusion, frustration and controversy. 2001 saw the formal introduction of clinical nurse specialists roles in Ireland across nursing including intellectual disability. A exploratory qualitative approach using semistructured one-to-one interviews with 10 family members regarding their perceptions of the clinical nurse specialists in intellectual disability. Data were audio-recorded, transcribed and analysed using Burnard's framework. Ethical approval was gained and access granted by service providers. The study highlights that intellectual disability clinical nurse specialists contribute and support care deliver across a range of areas, including personal caring, supporting and empowering families, liaison, education and leadership. Clinical nurse specialists have an important role and contribution in supporting families and clients, and Ireland is in a unique position to develop knowledge regarding specialist care for people with intellectual disability that can be shared nationally and internationally. Ireland is in a unique position to develop knowledge regarding specialist care for people with intellectual disability that can be shared and adapted by other healthcare professionals in other countries that do not have a specialised intellectual disability nurses. © 2017 John Wiley & Sons Ltd.

  17. Adaptation and implementation of family-based treatment enhanced with dialectical behavior therapy skills for anorexia nervosa in community-based specialist clinics.

    Science.gov (United States)

    Accurso, Erin C; Astrachan-Fletcher, Ellen; O'Brien, Setareh; McClanahan, Susan F; Le Grange, Daniel

    2018-01-01

    Although family-based therapy (FBT) is a well-established treatment for anorexia nervosa, its implementation and effectiveness in clinical settings has been neglected. A group of seven therapists at a community-based eating disorders clinic were trained in skills-enhanced FBT and provided treatment to 11 youth with anorexia nervosa. Family-based skills training, which borrowed heavily from dialectical behavior therapy, was introduced in four additional sessions and then integrated throughout the remainder of FBT. FBT was perceived as appropriate and acceptable by all participants. Therapists reported high treatment fidelity. There was a large improvement in weight and moderate improvement in caregiver-reported eating disorder psychopathology but no clinically significant change by youth report. This study provides preliminary data on the implementation and effectiveness of FBT in the community.

  18. [Clinical and genetic investigation of families with Waardenburg syndrome type 2].

    Science.gov (United States)

    Chen, H S; Liao, X B; Liu, Y L; He, C F; Zhang, H; Jiang, L; Feng, Y; Mei, L Y

    2016-12-01

    Objective: To investigate the clinical chacteration and molecular pathology of Waardenburg syndrome type 2 in seven families, and provide genetic diagnosis and hereditary counseling for family members. Method: Clinical data of seven families with WS2(14 patients)were collected. Peripheral blood samples of the probands and related family members were collected and genomic DNA was extracted. The coding sequences of microphthalmia associated transcription factor (MITF), sex-determining region Y-box 10(SOX10), snail family zinc finger 2 (SNAI2) and endothelin receptor type B(EDNRB)were analyzed by polymerase chain reaction and DNA sequencing. Then the raw data was analyzed. Result: The most common manifestations of WS2 are sensorineural hearing loss(10/14,71.4%), freckle(7/14, 50.0%),heterochromia iridis(6/14, 42.9%) and premature greying(5/14,35.7%). All the deafness phenotype is congenital, bilateral profound sensorineural hearing loss. Freckles phenotype is different from cutaneous pigment abnormalities of WS in Westerners. The heterozygous mutation, c.328C>T in exon 3 of the MITF gene was detected in the proband and all patients of pedigree 2. However, no pathological mutation of the relevant genes (SOX10,SNAI2 and EDNRB) was detected in other pedigrees. Conclusion: There are obvious variations in clinical features of WS, while freckles may be a special subtype of cutaneous pigment disturbances. The MITF gene mutation, R110X,is therefore considered the disease causing mutation in pedigree WS02.However, there are novel disease causing genes or copy number variations in Waardenburg syndrome type 2, which require further research. Copyright© by the Editorial Department of Journal of Clinical Otorhinolaryngology Head and Neck Surgery.

  19. Malaysia: where big is still better. For Malays, large families are part of the plan.

    Science.gov (United States)

    1993-11-03

    The benefits of various-sized families in Malaysia were discussed by several women and supplemented with official statements on family planning (FP). The Director of the National Population and Family Development, Dr. Raj Karim, advised that maternal health is jeopardized when women have more than five children. About 30% of reproductive age women in Malaysia have five or more children. A Federation of FP Associations spokesperson agreed that women should be advised of the dangers of bearing over five children, of the importance of spacing births two to four years apart, and of the ideal age of childbearing (21-39 years). The government lacks an official policy on family size. The government position is, however, compatible with Islamic teachings on spacing in order to protect the health of the mother and child. Islamic law does not permit sterilization or abortion. The "fatwas" of Islamic teaching may have been misconstrued by those not using any form of contraception. Dr. Karim, who has five children, reported that having a large family can be difficult for a woman with a job, a career, and a husband or when both parents work. Most Malays desire large families. The average Malay family size was 4.1 children in 1990; Malaysian Chinese have fertility of 2.3 children and Malaysian Indians have 2.6 children. People say that the benefits outweigh the hardships of a large family.

  20. Health self-perception by dementia family caregivers: sociodemographic and clinical factors

    Directory of Open Access Journals (Sweden)

    Letice Ericeira Valente

    2011-10-01

    Full Text Available Caring for a demented family member has been associated with burden. Studies concerning health self-perception of family caregivers are still scarce. OBJECTIVE: To investigate caregivers perceived health and to look into relationships with patients and caregivers' sociodemographic and clinical data. METHOD: Dyads of dementia outpatients and family caregivers (n=137 were assessed with Mini Mental State Examination, Functional Activities Questionnaire, Neuropsychiatric Inventory and Clinical Dementia Rating. Caregivers answered Sociodemographic Questionnaire, Beck Depression and Anxiety Inventories, Zarit Burden Interview and Maslach Burnout Inventory. RESULTS: Caregivers poor perceived health was associated with emotional exhaustion, burden, depression and anxiety. Logistic regression analyses revealed caregivers' age, anxiety and physical problem as the main predictors of health self-perception. CONCLUSION: Aged family caregivers with anxiety who also report physical problem characterize a group at risk for poor self-perceived health. Evaluation of health self-perception may be useful for designing interventions to improve anxiety and physical health.

  1. The roles of segmental and tandem gene duplication in the evolution of large gene families in Arabidopsis thaliana

    Directory of Open Access Journals (Sweden)

    Baumgarten Andrew

    2004-06-01

    Full Text Available Abstract Background Most genes in Arabidopsis thaliana are members of gene families. How do the members of gene families arise, and how are gene family copy numbers maintained? Some gene families may evolve primarily through tandem duplication and high rates of birth and death in clusters, and others through infrequent polyploidy or large-scale segmental duplications and subsequent losses. Results Our approach to understanding the mechanisms of gene family evolution was to construct phylogenies for 50 large gene families in Arabidopsis thaliana, identify large internal segmental duplications in Arabidopsis, map gene duplications onto the segmental duplications, and use this information to identify which nodes in each phylogeny arose due to segmental or tandem duplication. Examples of six gene families exemplifying characteristic modes are described. Distributions of gene family sizes and patterns of duplication by genomic distance are also described in order to characterize patterns of local duplication and copy number for large gene families. Both gene family size and duplication by distance closely follow power-law distributions. Conclusions Combining information about genomic segmental duplications, gene family phylogenies, and gene positions provides a method to evaluate contributions of tandem duplication and segmental genome duplication in the generation and maintenance of gene families. These differences appear to correspond meaningfully to differences in functional roles of the members of the gene families.

  2. Do U.S. family planning clinics encourage parent-child communication? Findings from an exploratory survey.

    Science.gov (United States)

    Jones, Rachel K

    2006-09-01

    Clinics that receive Title X funding have a mandate to encourage parent-child communication for minors seeking family planning services. Little is known about the programs and practices that clinics have adopted to achieve this goal, or whether clinics not receiving Title X funds encourage family participation. As part of a larger project examining parental engagement among adolescents using family planning clinics, 81 clinics that served 200 or more adolescent contraceptive clients in 2001 completed a questionnaire containing closed- and open-ended items. Topic areas included clinic counseling and policies regarding clients younger than 18, activities to improve parent-child communication and community relations. Frequency distributions were calculated for the prevalence of activities, and cross-tabulations were used to compare prevalence by clinic characteristics. Every clinic engaged in at least one activity to promote parent-child communication, and nine in 10 offered multiple activities. Most of the clinics used counseling sessions to talk to adolescent clients about the importance of discussing sexual health issues with parents (73-94%, depending on the reason for the visit). More than eight in 10 clinics (84%) distributed pamphlets on how to talk about these issues. A substantial minority (43%) offered or referred interested individuals to educational programs designed to improve communication. Some of these exploratory findings reflect the prevalence of activities among all U.S. family planning clinics that serve adolescent clients. Evaluation and expansion of clinic efforts to promote voluntary communication about sexual health issues between parents and children could help encourage family participation.

  3. The Myth of the Nuclear Family: Historical Background and Clinical Implications.

    Science.gov (United States)

    Uzoka, Azubike Felix

    1979-01-01

    Research reviewed indicates that the concept of the nuclear family is inadequate and misleading for an understanding of family dynamics or a guide for therapeutic intervention. Nonetheless, clinical practitioners and psychological theorists foster the nuclear myth. A new approach to the study of human relationships is needed. (Author/GC)

  4. Family therapy training on a clinical psychology programme

    OpenAIRE

    Carr, Alan

    2007-01-01

    The report describes the intake interviewing exercise in a family therapy training unit developed for postgraduates in clinical psychology. The teaching method includes pre-class reading, video modelling, and simulated practice with live feedback. The academic material and other similar practice exercises are contained in the core textbook for this unit.

  5. Genetic linkage analyses and Cx50 mutation detection in a large multiplex Chinese family with hereditary nuclear cataract.

    Science.gov (United States)

    He, Wei; Li, Xin; Chen, Jiajing; Xu, Ling; Zhang, Feng; Dai, Qiushi; Cui, Hao; Wang, Duen-Mei; Yu, Jun; Hu, Songnian; Lu, Shan

    2011-03-01

    The aim of the study was to characterize the underlying mutation in a large multiplex Chinese family with hereditary nuclear cataract. A 6-generation Chinese family having hereditary nuclear cataract was recruited and clinically verified. Blood DNA samples were obtained from 53 available family members. Linkage analyses were performed on the known candidate regions for hereditary cataract with 36 polymorphic microsatellite markers. To identify mutations related to cataract, a direct sequencing approach was applied to a candidate gene residing in our linkage locus. A linkage locus was identified with a maximum 2-point LOD score of 4.31 (recombination fraction = 0) at marker D1S498 and a maximum multipoint LOD score of 5.7 between markers D1S2344 and D1S498 on chromosome 1q21.1, where the candidate gene Cx50 is located. Direct sequencing of Cx50 showed a 139 G to A transition occurred in all affected family members. This transitional mutation resulted in a replacement of aspartic acid by asparagine at residue 47 (D47N) and led to a loss-of-function of the protein. The D47N mutation of Cx50 causes the hereditary nuclear cataract in this family in an autosomal dominant mode of inheritance with incomplete penetrance.

  6. A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment

    DEFF Research Database (Denmark)

    Nyegaard, Mette; Rendtorff, Nanna D; Nielsen, Morten S

    2015-01-01

    Nonsyndromic hearing impairment (NSHI) is a highly heterogeneous condition with more than eighty known causative genes. However, in the clinical setting, a large number of NSHI families have unexplained etiology, suggesting that there are many more genes to be identified. In this study we used SNP......-based linkage analysis and follow up microsatellite markers to identify a novel locus (DFNA66) on chromosome 6q15-21 (LOD 5.1) in a large Danish family with dominantly inherited NSHI. By locus specific capture and next-generation sequencing, we identified a c.574C>T heterozygous nonsense mutation (p.R192......-genome and exome sequence data. The predicted effect of the mutation was a truncation of the last six C-terminal residues of the cytoplasmic tail of CD164, including a highly conserved canonical sorting motif (YXX phi). In whole blood from an affected individual, we found by RT-PCR both the wild...

  7. High lipoprotein(a) as a possible cause of clinical familial hypercholesterolaemia

    DEFF Research Database (Denmark)

    Langsted, Anne; Kamstrup, Pia Rørbœk; Benn, Marianne

    2016-01-01

    , and that individuals with both high lipoprotein(a) concentrations and clinical familial hypercholesterolaemia have the highest risk of myocardial infarction. METHODS: We did a prospective cohort study that included data from 46 200 individuals from the Copenhagen General Population Study who had lipoprotein...... cholesterol, mean lipoprotein(a) concentrations were 23 mg/dL in individuals unlikely to have familial hypercholesterolaemia, 32 mg/dL in those with possible familial hypercholesterolaemia, and 35 mg/dL in those with probable or definite familial hypercholesterolaemia (ptrend... LDL cholesterol for lipoprotein(a) cholesterol content the corresponding values were 24 mg/dL for individuals unlikely to have familial hypercholesterolaemia, 22 mg/dL for those with possible familial hypercholesterolaemia, and 21 mg/dL for those with probable or definite familial...

  8. Clinical Efficacy of Psychoeducational Interventions with Family Caregivers

    Science.gov (United States)

    Limiñana-Gras, Rosa M.; Colodro-Conde, Lucía; Cuéllar-Flores, Isabel; Sánchez-López, M. Pilar

    2016-01-01

    The goal of this study is to investigate the efficacy of psychoeducational interventions geared to reducing psychological distress for caregivers in a sample of 90 family caregivers of elderly dependent (78 women and 12 men). We conducted an analysis of the statistical and clinical significance of the changes observed in psychological health…

  9. Do Family Responsibilities and a Clinical Versus Research Faculty Position Affect Satisfaction with Career and Work–Life Balance for Medical School Faculty?

    Science.gov (United States)

    Beckett, Laurel; Nettiksimmons, Jasmine; Howell, Lydia Pleotis

    2015-01-01

    Abstract Background: Balancing career and family obligations poses challenges to medical school faculty and contributes to dissatisfaction and attrition from academics. We examined the relationship between family setting and responsibilities, rank, and career and work–life satisfaction for faculty in a large U.S. medical school. Methods: Baseline faculty surveys were analyzed from the first year of a 4-year National Institutes of Health–funded study to evaluate awareness, knowledge, attitudes, and use of family friendly policies and career satisfaction. The study focus was on the impact of family responsibilities and characteristics of the faculty position (rank, clinical vs. nonclinical, and academic series) in multivariate comparisons between primary predictors and outcomes of interest. Results: Both clinical and family responsibilities for children under 18 play a major and interacting role in satisfaction with career and work–life balance. Clinical faculty respondents without children at home reported significantly greater career satisfaction and better work–life balance than their nonclinical counterparts. Nonclinical faculty respondents with children reported greater satisfaction and better balance than counterparts without family responsibilities. However, the advantage in career satisfaction and work–life balance for clinical faculty respondents disappeared for those with responsibility for young children. No gender-based differences were noted in the results or across faculty rank for respondents; however, for women, reaching associate professor resulted in greater career satisfaction. Conclusion: This study suggests that both work-related factors and family responsibilities influence satisfaction with career and work–life balance, but the predictors appear to interact in complex and nuanced ways. Further research is needed to delineate more clearly these interactions and to explore other factors that may play important additional roles. PMID

  10. Do Family Responsibilities and a Clinical Versus Research Faculty Position Affect Satisfaction with Career and Work-Life Balance for Medical School Faculty?

    Science.gov (United States)

    Beckett, Laurel; Nettiksimmons, Jasmine; Howell, Lydia Pleotis; Villablanca, Amparo C

    2015-06-01

    Balancing career and family obligations poses challenges to medical school faculty and contributes to dissatisfaction and attrition from academics. We examined the relationship between family setting and responsibilities, rank, and career and work-life satisfaction for faculty in a large U.S. medical school. Baseline faculty surveys were analyzed from the first year of a 4-year National Institutes of Health-funded study to evaluate awareness, knowledge, attitudes, and use of family friendly policies and career satisfaction. The study focus was on the impact of family responsibilities and characteristics of the faculty position (rank, clinical vs. nonclinical, and academic series) in multivariate comparisons between primary predictors and outcomes of interest. Both clinical and family responsibilities for children under 18 play a major and interacting role in satisfaction with career and work-life balance. Clinical faculty respondents without children at home reported significantly greater career satisfaction and better work-life balance than their nonclinical counterparts. Nonclinical faculty respondents with children reported greater satisfaction and better balance than counterparts without family responsibilities. However, the advantage in career satisfaction and work-life balance for clinical faculty respondents disappeared for those with responsibility for young children. No gender-based differences were noted in the results or across faculty rank for respondents; however, for women, reaching associate professor resulted in greater career satisfaction. This study suggests that both work-related factors and family responsibilities influence satisfaction with career and work-life balance, but the predictors appear to interact in complex and nuanced ways. Further research is needed to delineate more clearly these interactions and to explore other factors that may play important additional roles.

  11. Family scenarios and violence: a clinical case story

    Directory of Open Access Journals (Sweden)

    Gabriella Ferrari Bravo

    2014-06-01

    Full Text Available This article describes the acceptance and taking-charge process of a history of incest involving a father and his daughter. This case arrived through an ad hoc telephone line set up by a territorial service aimed at listening, counselling, and treating problems and conflicts inherent in family life. The mother made the first contact with this service, ten years after the event. The case story is geared to outlining the development of the relational events within the parents‟ relationship and in relation to their daughter as well as the interactions with the family service (CPF. The purpose is also to show the procedure of the intervention and taking-charge process carried out by the psychologists of the service as well as the counter-transference feelings that have accompanied the clinical intervention and the effects they have had on the relationships between the individual members of the whole family.

  12. Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families.

    Science.gov (United States)

    Nakano, Aoi; Lestringant, Gilles G; Paperna, Tamar; Bergman, Reuven; Gershoni, Ruth; Frossard, Philippe; Kanaan, Moien; Meneguzzi, Guerrino; Richard, Gabriele; Pfendner, Ellen; Uitto, Jouni; Pulkkinen, Leena; Sprecher, Eli

    2002-04-01

    Junctional epidermolysis bullosa (JEB) is a group of inherited blistering diseases characterized by epidermal-dermal separation resulting from mutations that affect the function of critical components of the basement membrane zone. This group of autosomal recessive diseases is especially prevalent in regions where consanguinity is common, such as the Middle East. However, the clinical and genetic epidemiology of JEB in this region remains largely unexplored. The aim of the present study was to assess a series of consanguineous JEB families originating from the Middle East. We identified 7 families referred to us between 1998 and 1999 and originating from the United Arab Emirates, Saudi Arabia, Sudan, Yemen, and Israel. Histologic, immunofluorescence, and electron microscopy studies were performed to direct the subsequent molecular analysis. DNA obtained from all family members was amplified by means of polymerase chain reaction and analyzed by conformation-sensitive gel electrophoresis with subsequent direct sequencing. In 6 families presenting with the clinical and histologic features distinctive for JEB, mutations in genes encoding 1 of the 3 subunit polypeptides of laminin-5 were identified. Two families each had mutations in LAMB3, 2 in LAMA3, and 2 in LAMC2. Out of 7 distinct mutations, 5 were novel and 2 were recurrent. No relationship was found between the presence of nonsense/frameshift mutations in laminin-5 genes and perinatal mortality, contradicting a major genotype-phenotype correlation previously reported in the European and US literature. Similarly, none of the recurrent LAMB3 hot spot mutations previously described in other populations was found in our series. Finally, in a family with the clinical diagnosis of generalized atrophic benign epidermolysis bullosa, a homozygous non-sense mutation in Col17A1 gene (encoding the BPAG2 antigen) was identified. The present report suggests (1) the existence of a unique spectrum of mutations in the Middle East

  13. Atypical Features in a Large Turkish Family Affected with Friedreich Ataxia

    Directory of Open Access Journals (Sweden)

    Semiha Kurt

    2016-01-01

    Full Text Available Here, we describe the clinical features of several members of the same family diagnosed with Friedreich ataxia (FRDA and cerebral lesions, demyelinating neuropathy, and late-age onset without a significant cardiac involvement and presenting with similar symptoms, although genetic testing was negative for the GAA repeat expansion in one patient of the family. The GAA repeat expansion in the frataxin gene was shown in all of the family members except in a young female patient. MRI revealed arachnoid cysts in two patients; MRI was consistent with both cavum septum pellucidum-cavum vergae and nodular signal intensity increase in one patient. EMG showed demyelinating sensorimotor polyneuropathy in another patient. The GAA expansion-negative 11-year-old female patient had mental-motor retardation, epilepsy, and ataxia. None of the patients had significant cardiac symptoms. Description of FRDA families with different ethnic backgrounds may assist in identifying possible phenotypic and genetic features of the disease. Furthermore, the genetic heterogeneity observed in this family draws attention to the difficulty of genetic counseling in an inbred population and to the need for genotyping all affected members before delivering comprehensive genetic counseling.

  14. A family planning clinic partner violence intervention to reduce risk associated with reproductive coercion

    Science.gov (United States)

    Miller, Elizabeth; Decker, Michele R.; McCauley, Heather L.; Tancredi, Daniel J.; Levenson, Rebecca R.; Waldman, Jeffrey; Schoenwald, Phyllis; Silverman, Jay G.

    2010-01-01

    Background This study examined the efficacy of a family planning clinic-based intervention to address intimate partner violence (IPV) and reproductive coercion. Study Design Four free-standing urban family planning clinics in Northern California were randomized to intervention (trained family planning counselors) or standard-of-care. English-and Spanish-speaking females ages 16-29 years (N=906) completed audio computer-assisted surveys prior to a clinic visit and 12 to 24 weeks later (75% retention rate). Analyses included assessment of intervention effects on recent IPV, awareness of IPV services, and reproductive coercion. Results Among women reporting past 3-month IPV at baseline, there was a 71% reduction in the odds of pregnancy coercion among participants in intervention clinics compared to participants from the control clinics that provided standard of care. Women in the intervention arm were more likely to report ending a relationship because the relationship was unhealthy or unsafe regardless of IPV status (AOR 1.63, 95% CI 1.01 – 2.63). Conclusions Results of this pilot study suggest that this intervention may reduce risk for reproductive coercion from abusive male partners among family planning clients and support such women to leave unsafe relationships. PMID:21310291

  15. Fidelity Failures in Brief Strategic Family Therapy for Adolescent Drug Abuse: A Clinical Analysis.

    Science.gov (United States)

    Lebensohn-Chialvo, Florencia; Rohrbaugh, Michael J; Hasler, Brant P

    2018-04-30

    As evidence-based family treatments for adolescent substance use and conduct problems gain traction, cutting edge research moves beyond randomized efficacy trials to address questions such as how these treatments work and how best to disseminate them to community settings. A key factor in effective dissemination is treatment fidelity, which refers to implementing an intervention in a manner consistent with an established manual. While most fidelity research is quantitative, this study offers a qualitative clinical analysis of fidelity failures in a large, multisite effectiveness trial of Brief Strategic Family Therapy (BSFT) for adolescent drug abuse, where BSFT developers trained community therapists to administer this intervention in their own agencies. Using case notes and video recordings of therapy sessions, an independent expert panel first rated 103 cases on quantitative fidelity scales grounded in the BSFT manual and the broader structural-strategic framework that informs BSFT intervention. Because fidelity was generally low, the panel reviewed all cases qualitatively to identify emergent types or categories of fidelity failure. Ten categories of failures emerged, characterized by therapist omissions (e.g., failure to engage key family members, failure to think in threes) and commissions (e.g., off-model, nonsystemic formulations/interventions). Of these, "failure to think in threes" appeared basic and particularly problematic, reflecting the central place of this idea in structural theory and therapy. Although subject to possible bias, our observations highlight likely stumbling blocks in exporting a complex family treatment like BSFT to community settings. These findings also underscore the importance of treatment fidelity in family therapy research. © 2018 Family Process Institute.

  16. Does a family history of RA influence the clinical presentation and treatment response in RA?

    Science.gov (United States)

    Frisell, Thomas; Saevarsdottir, Saedis; Askling, Johan

    2016-06-01

    To assess whether family history of rheumatoid arthritis (RA), among the strongest risk factors for developing RA, also carries information on the clinical presentation and treatment response. The prospective Swedish Rheumatology register was linked to family history of RA, defined as diagnosed RA in any first-degree relative, ascertained through the Swedish Multi-Generation and Patient registers. Clinical presentation was examined among patients with early RA 2000-2011 (symptom onset clinical characteristics, drug survival, European League Against Rheumatism (EULAR) response and change in disease activity at 3 and 6 months was estimated using linear and generalised logistic regression models. Correlation in relatives' response measures was also assessed. Patients with early RA with family history of RA were more often rheumatoid factor positive, but with no other clinically meaningful differences in their clinical presentation. Family history of RA did not predict response to MTX or TNFi, with the possible exception of no versus good EULAR response to TNFi at 6 months (OR=1.4, 95% CI 1.1 to 1.7). Having a relative who discontinued TNFi within a year increased the odds of doing the same (OR=3.7, 95% CI 1.8 to 7.5), although we found no significant familial correlations in change in disease activity measures. Family history of RA did not modify the clinical presentation of RA or predict response to standard treatment with MTX or TNFi. Treatment response, particularly drug survival, may itself be familial. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  17. Clinical and genetic aspects of familial isolated pituitary adenomas

    Directory of Open Access Journals (Sweden)

    Vladimir Vasilev

    2012-01-01

    Full Text Available Pituitary adenomas represent a group of functionally diverse neoplasms with relatively high prevalence in the general population. Most occur sporadically, but inherited genetic predisposing factors are increasingly recognized. Familial isolated pituitary adenoma is a recently defined clinical entity, and is characterized by hereditary presentation of pituitary adenomas in the absence of clinical and genetic features of syndromic disease such as multiple endocrine neoplasia type 1 and Carney complex. Familial isolated pituitary adenoma is inherited in an autosomal dominant manner and accounted for approximately 2-3% of pituitary tumors in some series. Germline mutations in the aryl-hydrocarbon interacting protein gene are identified in around 25% of familial isolated pituitary adenoma kindreds. Pituitary adenomas with mutations of the aryl-hydrocarbon interacting protein gene are predominantly somatotropinomas and prolactinomas, but non-functioning adenomas, Cushing disease, and thyrotropinoma may also occur. These tumors may present as macroadenomas in young patients and are often relatively difficult to control. Furthermore, recent evidence indicates that aryl-hydrocarbon interacting protein gene mutations occur in >10% of patients with sporadic macroadenomas that occur before 30 years of age, and in >20% of children with macroadenomas. Genetic screening for aryl-hydrocarbon interacting protein gene mutations is warranted in selected high-risk patients who may benefit from early recognition and follow-up.

  18. The impact of family planning clinic programs on adolescent pregnancy.

    Science.gov (United States)

    Forrest, J D; Hermalin, A I; Henshaw, S K

    1981-01-01

    During the 1970s, there was a decline in adolescent childbearing in the United States and, among teenagers who were sexually active, there was a decline in pregnancy rates as well. To what extent was increased enrollment by teenagers in federally funded family planning clinics responsible for these declines? Areal multivariate analysis reveals that adolescent birthrates were reduced between 1970 and 1975 as the result of enrollment by teenagers in family planning clinics, independent of the effects of other factors also affecting fertility, such as poverty status, education and urbanization. Using a model which controls for differences in adolescent sexual activity in different areas in 1970 and 1975, the analysis found that for every 10 teenage patients enrolled in family planning clinics in 1975, about one birth was averted in 1976. Other multivariate models, which did not control for differences in sexual activity, showed changes in the same direction, though of smaller dimension. Since the family planning program averts not only births but also pregnancies that result in abortions and miscarriages, an estimate was made of the total number of pregnancies averted by the program. Based on the proportion of unintended pregnancies among adolescents that resulted in live births in 1976 (36 percent), it was estimated that for every 10 teen patients enrolled in 1975, almost three pregnancies were averted in the following year. Over the 1970s, an estimated 2.6 million unintended adolescent pregnancies were averted by the program--944,000 births, 1,376,000 abortions and 326,000 miscarriages. In 1979 alone, an estimated 417,000 unintended pregnancies were prevented by the program.

  19. Interventions to Increase Male Attendance and Testing for Sexually Transmitted Infections at Publicly-Funded Family Planning Clinics.

    Science.gov (United States)

    Fine, David; Warner, Lee; Salomon, Sarah; Johnson, David M

    2017-07-01

    We assessed the impact of staff, clinic, and community interventions on male and female family planning client visit volume and sexually transmitted infection testing at a multisite community-based health care agency. Staff training, clinic environmental changes, in-reach/outreach, and efficiency assessments were implemented in two Family Health Center (San Diego, CA) family planning clinics during 2010-2012; five Family Health Center family planning programs were identified as comparison clinics. Client visit records were compared between preintervention (2007-2009) and postintervention (2010-2012) for both sets of clinics. Of 7,826 male client visits during the time before intervention, most were for clients who were aged male visits (4,004 to 8,385; Δ = +109%); for comparison clinics, male visits increased modestly (3,822 to 4,500; Δ = +18%). The proportion of male clinic visits where chlamydia testing was performed increased in intervention clinics (35% to 42%; p males yielded similar findings for male client volume and chlamydia testing. The number of female visits declined nearly 40% in both comparison (21,800 to 13,202; -39%) and intervention clinics (30,830 to 19,971; -35%) between preintervention and postintervention periods. Multilevel interventions designed to increase male client volume and sexually transmitted infection testing services in family planning clinics succeeded without affecting female client volume or services. Copyright © 2017 Society for Adolescent Health and Medicine. All rights reserved.

  20. Novel VPS13B Mutations in Three Large Pakistani Cohen Syndrome Families Suggests a Baloch Variant with Autistic-Like Features.

    Science.gov (United States)

    Rafiq, Muhammad Arshad; Leblond, Claire S; Saqib, Muhammad Arif Nadeem; Vincent, Akshita K; Ambalavanan, Amirthagowri; Khan, Falak Sher; Ayaz, Muhammad; Shaheen, Naseema; Spiegelman, Dan; Ali, Ghazanfar; Amin-ud-Din, Muhammad; Laurent, Sandra; Mahmood, Huda; Christian, Mehtab; Ali, Nadir; Fennell, Alanna; Nanjiani, Zohair; Egger, Gerald; Caron, Chantal; Waqas, Ahmed; Ayub, Muhammad; Rasheed, Saima; Forgeot d'Arc, Baudouin; Johnson, Amelie; So, Joyce; Brohi, Muhammad Qasim; Mottron, Laurent; Ansar, Muhammad; Vincent, John B; Xiong, Lan

    2015-06-25

    Cohen Syndrome (COH1) is a rare autosomal recessive disorder, principally identified by ocular, neural and muscular deficits. We identified three large consanguineous Pakistani families with intellectual disability and in some cases with autistic traits. Clinical assessments were performed in order to allow comparison of clinical features with other VPS13B mutations. Homozygosity mapping followed by whole exome sequencing and Sanger sequencing strategies were used to identify disease-related mutations. We identified two novel homozygous deletion mutations in VPS13B, firstly a 1 bp deletion, NM_017890.4:c.6879delT; p.Phe2293Leufs*24, and secondly a deletion of exons 37-40, which co-segregate with affected status. In addition to COH1-related traits, autistic features were reported in a number of family members, contrasting with the "friendly" demeanour often associated with COH1. The c.6879delT mutation is present in two families from different regions of the country, but both from the Baloch sub-ethnic group, and with a shared haplotype, indicating a founder effect among the Baloch population. We suspect that the c.6879delT mutation may be a common cause of COH1 and similar phenotypes among the Baloch population. Additionally, most of the individuals with the c.6879delT mutation in these two families also present with autistic like traits, and suggests that this variant may lead to a distinct autistic-like COH1 subgroup.

  1. Family medicine training in Africa: Views of clinical trainers and trainees

    Directory of Open Access Journals (Sweden)

    Louis S. Jenkins

    2018-04-01

    Conclusion: The training of family physicians across Africa shares many common themes. However, there are also big differences among the various countries and even programmes within countries. The way forward would include exploring the local contextual enablers that influence the learning conversations between trainees and their supervisors. Family medicine training institutions and organisations (such as WONCA Africa and the South African Academy of Family Physicians have a critical role to play in supporting trainees and trainers towards developing local competencies which facilitate learning in the clinical workplace dominated by service delivery pressures.

  2. Family therapy in treatment of the deaf: a case report.

    Science.gov (United States)

    Shapiro, R J; Harris, R I

    1976-03-01

    Deaf patients with psychological problems have developmental handicaps and clinical characteristics that reduce the effectiveness of traditional modes of psychotherapy. Attempts have been made to utilize individual and group therapy, but family therapy has been largely overlooked as a method of alleviating problems of the deaf. Clinical and research writings provide us with rich insights into the family dynamics of the deaf. These data suggest to the authors that the problems of deaf individuals are largely related to family problems, and therefore merit a family orientation as the focus for treatment. This paper describes an attempt to apply family therapy with a range of deaf patients over a period of two years. From a review of their work, the authors conclude that family therapy can be effective, particularly in the treatment of deaf adolescents and children.

  3. Family accommodation in adult obsessive–compulsive disorder: clinical perspectives

    Directory of Open Access Journals (Sweden)

    Albert U

    2017-09-01

    Full Text Available Umberto Albert, Alessandra Baffa, Giuseppe Maina Rita Levi Montalcini Department of Neuroscience, A.O.U. San Luigi Gonzaga, University of Turin, Turino, Italy Abstract: The term accommodation has been used to refer to family responses specifically related to obsessive–compulsive (OC symptoms: it encompasses behaviors such as directly participating in compulsions, assisting a relative with obsessive–compulsive disorder (OCD when he/she is performing a ritual, or helping him/her to avoid triggers that may precipitate obsessions and compulsions. At the opposite side, family responses to OCD may also include interfering with the rituals or actively opposing them; stopping accommodating OC symptoms or actively interfering with their performance is usually associated with greater distress and sometimes even with aggressive behaviors from the patients. This article summarizes progress of the recent research concerning family accommodation in relatives of patients with OCD. Family accommodation is a prevalent phenomenon both among parents of children/adolescents with OCD and relatives/caregivers of adult patients. It can be measured with a specific instrument, the Family Accommodation Scale, of which there are several versions available for use in clinical practice. The vast majority of both parents of children/adolescents with OCD and family members of adult patients show at least some accommodation; providing reassurances to obsessive doubts, participating in rituals and assisting the patient in avoidance are the most frequent accommodating behaviors displayed by family members. Modification of routine and modification of activities specifically due to OC symptoms have been found to be equally prevalent. Specific characteristics of patients (such as contamination/washing symptoms and of relatives (the presence of anxiety or depressive symptoms or a family history positive for another anxiety disorder are associated with a higher degree of family

  4. Family Cognitive Behavioral Therapy for Children and Adolescents with Clinical Anxiety Disorders

    Science.gov (United States)

    Bogels, Susan M.; Siqueland, Lynne

    2006-01-01

    Objective: A family cognitive-behavioral therapy for children and adolescents ages 8 to 18 years with clinical anxiety disorders was developed and evaluated. Method: Seventeen families were measured before and after waitlist, after treatment, and at 3-month and 1-year follow-up. Results: No children changed their diagnostic status during waitlist,…

  5. Study on superhigh energy γ-ray family events with large-scale Fe emulsion chambers

    International Nuclear Information System (INIS)

    Ren Jingru; Lu Suiling; Su Shi

    1990-01-01

    Using a large-scale iron emulsion chamber, a big γ-ray family event with observed energy ΣE r = 7631 TeV was obtained. This paper described the advantages of iron emulsion chamber for studying big families and the characteristics of the event observed, together with a comparison with the Monte-Carlo simulation results

  6. Patient and family member perspectives on searching for cancer clinical trials: A qualitative interview study.

    Science.gov (United States)

    Ridgeway, Jennifer L; Asiedu, Gladys B; Carroll, Katherine; Tenney, Meaghan; Jatoi, Aminah; Radecki Breitkopf, Carmen

    2017-02-01

    Clinical trials are vital in the context of ovarian cancer and may offer further treatment options during disease recurrence, yet enrollment remains low. Understanding patient and family member experiences with identifying trials can inform engagement and education efforts. Interviews were conducted with 33 patients who had experience with clinical trial conversations and 39 nominated family members. Thematic analysis examined experiences and generated findings for clinical practice. Trial conversations with providers at diagnosis were uncommon and often overwhelming. Most participants delayed engagement until later in the disease course. With hindsight, though, some wished they considered trials earlier. Difficulty identifying appropriate trials led some to defer searching to providers, but then they worried about missed opportunities. Most family members felt unqualified to search. Trial conversations during clinical encounters should start early and include specifying search responsibilities of providers, patients, and family. Patients and family members can be engaged in searches but need guidance. Trials should be discussed throughout the disease course, even if patients are not ready to participate or are not making a treatment decision. Education should focus on identifying trials that meet search criteria. Transparency regarding each individual's role in identifying trials is critical. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  7. Co-morbid anxiety disorders in bipolar disorder and major depression: familial aggregation and clinical characteristics of co-morbid panic disorder, social phobia, specific phobia and obsessive-compulsive disorder.

    Science.gov (United States)

    Goes, F S; McCusker, M G; Bienvenu, O J; Mackinnon, D F; Mondimore, F M; Schweizer, B; Depaulo, J R; Potash, J B

    2012-07-01

    Co-morbidity of mood and anxiety disorders is common and often associated with greater illness severity. This study investigates clinical correlates and familiality of four anxiety disorders in a large sample of bipolar disorder (BP) and major depressive disorder (MDD) pedigrees. The sample comprised 566 BP families with 1416 affected subjects and 675 MDD families with 1726 affected subjects. Clinical characteristics and familiality of panic disorder, social phobia, specific phobia and obsessive-compulsive disorder (OCD) were examined in BP and MDD pedigrees with multivariate modeling using generalized estimating equations. Co-morbidity between mood and anxiety disorders was associated with several markers of clinical severity, including earlier age of onset, greater number of depressive episodes and higher prevalence of attempted suicide, when compared with mood disorder without co-morbid anxiety. Familial aggregation was found with co-morbid panic and OCD in both BP and MDD pedigrees. Specific phobia showed familial aggregation in both MDD and BP families, although the findings in BP were just short of statistical significance after adjusting for other anxiety co-morbidities. We found no evidence for familiality of social phobia. Our findings suggest that co-morbidity of MDD and BP with specific anxiety disorders (OCD, panic disorder and specific phobia) is at least partly due to familial factors, which may be of relevance to both phenotypic and genetic studies of co-morbidity.

  8. 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...

  9. Association between family history of mood disorders and clinical characteristics of bipolar disorder: results from the Brazilian bipolar research network.

    Science.gov (United States)

    Berutti, Mariangeles; Nery, Fabiano G; Sato, Rodrigo; Scippa, Angela; Kapczinski, Flavio; Lafer, Beny

    2014-06-01

    To compare clinical characteristics of bipolar disorder (BD) in patients with and without a family history of mood disorders (FHMD) in a large sample from the Brazilian Research Network of Bipolar Disorders. Four-hundred eighty-eight DSM-IV BD patients participating in the Brazilian Research Network of Bipolar Disorders were included. Participants were divided between those with FHMD (n=230) and without FHMD (n=258). We compared these two groups on demographic and clinical variables and performed a logistic regression to identify which variables were most strongly associated with positive family history of mood disorders. BD patients with FHMD presented with significantly higher lifetime prevalence of any anxiety disorder, obsessive-compulsive disorder, social phobia, substance abuse, and were more likely to present history of suicide attempts, family history of suicide attempts and suicide, and more psychiatric hospitalizations than BD patients without FHMD. Logistic regression showed that the variables most strongly associated with a positive FHMD were any comorbid anxiety disorder, comorbid substance abuse, and family history of suicide. Cross-sectional study and verification of FHMD by indirect information. BD patients with FHMD differ from BD patients without FHMD in rates of comorbid anxiety disorder and substance abuse, number of hospitalizations and suicide attempts. As FHMD is routinely assessed in clinical practice, these findings may help to identify patients at risk for particular manifestations of BD and may point to a common, genetically determined neurobiological substrate that increases the risk of conditions such as comorbidities and suicidality in BD patients. Copyright © 2014 Elsevier B.V. All rights reserved.

  10. Variable phenotypic expression and onset in MYH14 distal hereditary motor neuropathy phenotype in a large, multigenerational North American family.

    Science.gov (United States)

    Iyadurai, Stanley; Arnold, W David; Kissel, John T; Ruhno, Corey; Mcgovern, Vicki L; Snyder, Pamela J; Prior, Thomas W; Roggenbuck, Jennifer; Burghes, Arthur H; Kolb, Stephen J

    2017-08-01

    Distal hereditary motor neuropathy (dHMN) causes distal-predominant weakness without prominent sensory loss. Myosin heavy chain disorders most commonly result in distal myopathy and cardiomyopathy with or without hearing loss, but a complex phenotype with dHMN, myopathy, hoarseness, and hearing loss was reported in a Korean family with a c.2822G>T mutation in MYH14. In this study we report phenotypic features in a North American family with the c.2822G>T in MYH14. Clinical and molecular characterization was performed in a large, 6-generation, Caucasian family with MYH14 dHMN. A total of 11 affected and 7 unaffected individuals were evaluated and showed varying age of onset and severity of weakness. Genotypic concordance was confirmed with molecular analysis. Electrophysiological studies demonstrated distal motor axonal degeneration without myopathy in all affected subjects tested. Mutation of MYH14 can result in a range of neuromuscular phenotypes that includes a dHMN and hearing loss phenotype with variable age of onset. Muscle Nerve 56: 341-345, 2017. © 2016 Wiley Periodicals, Inc.

  11. Fabry Disease in Families With Hypertrophic Cardiomyopathy: Clinical Manifestations in the Classic and Later-Onset Phenotypes.

    Science.gov (United States)

    Adalsteinsdottir, Berglind; Palsson, Runolfur; Desnick, Robert J; Gardarsdottir, Marianna; Teekakirikul, Polakit; Maron, Martin; Appelbaum, Evan; Neisius, Ulf; Maron, Barry J; Burke, Michael A; Chen, Brenden; Pagant, Silvere; Madsen, Christoffer V; Danielsen, Ragnar; Arngrimsson, Reynir; Feldt-Rasmussen, Ulla; Seidman, Jonathan G; Seidman, Christine E; Gunnarsson, Gunnar Th

    2017-08-01

    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). Familial screening of at-risk relatives identified mutations in 16 family A members (8 men and 8 heterozygotes) and 25 family B members (10 men and 15 heterozygotes). Clinical assessments, α-galactosidase A (α-GalA) activities, glycosphingolipid substrate levels, and in vitro mutation expression were used to categorize p.D322E as a classic FD mutation and p.I232T as a later-onset FD mutation. In vitro expression revealed that p.D322E and p.I232T had α-GalA activities of 1.4% and 14.9% of the mean wild-type activity, respectively. Family A men had markedly decreased α-GalA activity and childhood-onset classic manifestations, except for angiokeratoma and cornea verticillata. Family B men had residual α-GalA activity and developed FD manifestations in adulthood. Despite these differences, all family A and family B men >30 years of age had left ventricular hypertrophy, which was mainly 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. Men with classic or later-onset FD caused by GLA missense mutations developed prominent and similar cardiovascular disease at similar ages, despite markedly different α-GalA activities. © 2017 American Heart Association, Inc.

  12. Clinical and genetic characteristics of Chinese hereditary nonpolyposis colorectal cancer families

    OpenAIRE

    Wang, Xu-Lin; Yuan, Ying; Zhang, Su-Zhan; Cai, Shan-Rong; Huang, Yan-Qin; Jiang, Qiang; Zheng, Shu

    2006-01-01

    AIM: To analyze the clinical characteristics of Chinese hereditary nonpolyposis colorectal cancer (HNPCC) families and to screen the germline mutations of human mismatch repair genes hMLH1 and hMSH2 in the probands.

  13. Comprehensive clinical evaluation of a large Spanish family with Anderson-Fabry disease, novel GLA mutation and severe cardiac phenotype.

    Science.gov (United States)

    San Román-Monserrat, Irene; Moreno-Flores, Victoria; López-Cuenca, David; Rodríguez-González-Herrero, Elena; Guillén-Navarro, Encarna; Rodríguez-González-Herrero, Beatriz; Alegría-Fernández, Marisol; Poza-Cisneros, Gabriela; Piñero-Fernández, Juan A; Sornichero-Martínez, Javier; Gimeno-Blanes, Juan R

    2014-06-06

    Fabry disease is an X-linked multisystemic lysosomal-storage condition. We describe a large family with a novel GLA mutation: p.M187R/g7219 T>G. Anamnesis/physical-exam, blood/urine analysis, α-Gal-A activity and/or genetic study of at-risk individuals and multidisciplinary evaluation in confirmed cases. 4 males and 13 heterozygous-females displayed the mutation. Cardiac/renal/neurological disease was diagnosed at a mean age of 41/29/39 years in males and 51/56/46 years in females. Onset mean age was 20 years versus 42 years. 9/15 had cardiomyopathy. Delta wave suggestive of accessory pathway was identified in 1 male and 2 females. 1 female had cardiac arrest (ventricular fibrillation, 61 years). 2 females and 1 male died suddenly (63, 64 and 57 years). Cardiac-subscore of Mainz Severity-Score-Index was severe for males and females over 40 years. 4/15(26%) developed early renal disease. 2 males needed dialysis. 1 male died at 69 years in spite of kidney-heart transplant. We describe the largest genetically confirmed Spanish family using multidisciplinary evaluation and MSSI calculation. The novel mutation p.M187R/g7219 T>G is associated with a particularly malignant cardiac phenotype in males and females over 40 years. Severity was higher than that of the largest Spanish FOS-cohort. Short-PR with delta is being reported for the first time. Copyright © 2013 Elsevier España, S.L. All rights reserved.

  14. Evaluating the feasibility of using candidate DNA barcodes in discriminating species of the large Asteraceae family.

    Science.gov (United States)

    Gao, Ting; Yao, Hui; Song, Jingyuan; Zhu, Yingjie; Liu, Chang; Chen, Shilin

    2010-10-26

    Five DNA regions, namely, rbcL, matK, ITS, ITS2, and psbA-trnH, have been recommended as primary DNA barcodes for plants. Studies evaluating these regions for species identification in the large plant taxon, which includes a large number of closely related species, have rarely been reported. The feasibility of using the five proposed DNA regions was tested for discriminating plant species within Asteraceae, the largest family of flowering plants. Among these markers, ITS2 was the most useful in terms of universality, sequence variation, and identification capability in the Asteraceae family. The species discriminating power of ITS2 was also explored in a large pool of 3,490 Asteraceae sequences that represent 2,315 species belonging to 494 different genera. The result shows that ITS2 correctly identified 76.4% and 97.4% of plant samples at the species and genus levels, respectively. In addition, ITS2 displayed a variable ability to discriminate related species within different genera. ITS2 is the best DNA barcode for the Asteraceae family. This approach significantly broadens the application of DNA barcoding to resolve classification problems in the family Asteraceae at the genera and species levels.

  15. Clinical and evoked pain, personality traits, and emotional states: can familial confounding explain the associations?

    Science.gov (United States)

    Strachan, Eric; Poeschla, Brian; Dansie, Elizabeth; Succop, Annemarie; Chopko, Laura; Afari, Niloofar

    2015-01-01

    Pain is a complex phenomenon influenced by context and person-specific factors. Affective dimensions of pain involve both enduring personality traits and fleeting emotional states. We examined how personality traits and emotional states are linked with clinical and evoked pain in a twin sample. 99 female twin pairs were evaluated for clinical and evoked pain using the McGill Pain Questionnaire (MPQ) and dolorimetry, and completed the 120-item International Personality Item Pool (IPIP), the Positive and Negative Affect Scale (PANAS), and ratings of stress and mood. Using a co-twin control design we examined a) the relationship of personality traits and emotional states with clinical and evoked pain and b) whether genetics and common environment (i.e. familial factors) may account for the associations. Neuroticism was associated with the sensory component of the MPQ; this relationship was not confounded by familial factors. None of the emotional state measures was associated with the MPQ. PANAS negative affect was associated with lower evoked pressure pain threshold and tolerance; these associations were confounded by familial factors. There were no associations between IPIP traits and evoked pain. A relationship exists between neuroticism and clinical pain that is not confounded by familial factors. There is no similar relationship between negative emotional states and clinical pain. In contrast, the relationship between negative emotional states and evoked pain is strong while the relationship with enduring personality traits is weak. The relationship between negative emotional states and evoked pain appears to be non-causal and due to familial factors. Copyright © 2014 Elsevier Inc. All rights reserved.

  16. Costs and cost-effectiveness of family CBT versus individual CBT in clinically anxious children

    NARCIS (Netherlands)

    Bodden, D.H.M.; Dirksen, C.D.; Bögels, S.M.; Nauta, M.H.; de Haan, E.; Ringrose, J.; Appelboom, C.; Brinkman, A.G.; Appelboom-Geerts, K.C.M.M.J.

    2008-01-01

    The objective of this study was to investigate the cost-effectiveness of family cognitive-behavioral therapy (CBT) compared with individual CBT in children with anxiety disorders. Clinically anxious children (aged 8—18 years) referred for treatment were randomly assigned to family or individual CBT

  17. Analysis of Family Clinical, vision of service nurses

    Directory of Open Access Journals (Sweden)

    Daniele Merisio Raimundi

    2016-06-01

    Full Text Available Objective to know the practice of the Family Clinic in Cuiaba and its relationship with the precepts of the expanded clinic, from the perspective of the service nurses. Method qualitative descriptive research, data collection with semi-structured interviews and results analyzed according to the method of thematic content analysis. Results for nurses working in the service, this assumes a differentiated and innovative proposal, which seeks to correlate with shared management in its three spheres. Although most do not know the Enlarged Clinic term in his speech cited its main principles and its tools. The greatest potential described were related to the Support Center for Health and popular participation, and as challenges, the lack of community health worker, the national health establishment registration and the difficulty of operation due to the profile of the professionals technical level arising from secondary care. Conclusions The clinic has positive aspects that can contribute to the advancement of the profession, to train health professionals and an innovative primary care model. Therefore, it emphasizes the need for implementation of continuing education in order to realize its proposal, and further studies on site.

  18. Impact of Pharmacy Student Interventions in an Urban Family Medicine Clinic

    OpenAIRE

    Ginzburg, Regina

    2014-01-01

    Objectives. To determine the number of interventions made by pharmacy students at an urban family medicine clinic and the acceptance rate of these recommendations by the healthcare providers. The secondary objective was to investigate the cost avoidance value of the interventions.

  19. Attachment-based family therapy for depressed and suicidal adolescents: theory, clinical model and empirical support.

    Science.gov (United States)

    Ewing, E Stephanie Krauthamer; Diamond, Guy; Levy, Suzanne

    2015-01-01

    Attachment-Based Family Therapy (ABFT) is a manualized family-based intervention designed for working with depressed adolescents, including those at risk for suicide, and their families. It is an empirically informed and supported treatment. ABFT has its theoretical underpinnings in attachment theory and clinical roots in structural family therapy and emotion focused therapies. ABFT relies on a transactional model that aims to transform the quality of adolescent-parent attachment, as a means of providing the adolescent with a more secure relationship that can support them during challenging times generally, and the crises related to suicidal thinking and behavior, specifically. This article reviews: (1) the theoretical foundations of ABFT (attachment theory, models of emotional development); (2) the ABFT clinical model, including training and supervision factors; and (3) empirical support.

  20. Evaluating the feasibility of using candidate DNA barcodes in discriminating species of the large Asteraceae family

    Directory of Open Access Journals (Sweden)

    Liu Chang

    2010-10-01

    Full Text Available Abstract Background Five DNA regions, namely, rbcL, matK, ITS, ITS2, and psbA-trnH, have been recommended as primary DNA barcodes for plants. Studies evaluating these regions for species identification in the large plant taxon, which includes a large number of closely related species, have rarely been reported. Results The feasibility of using the five proposed DNA regions was tested for discriminating plant species within Asteraceae, the largest family of flowering plants. Among these markers, ITS2 was the most useful in terms of universality, sequence variation, and identification capability in the Asteraceae family. The species discriminating power of ITS2 was also explored in a large pool of 3,490 Asteraceae sequences that represent 2,315 species belonging to 494 different genera. The result shows that ITS2 correctly identified 76.4% and 97.4% of plant samples at the species and genus levels, respectively. In addition, ITS2 displayed a variable ability to discriminate related species within different genera. Conclusions ITS2 is the best DNA barcode for the Asteraceae family. This approach significantly broadens the application of DNA barcoding to resolve classification problems in the family Asteraceae at the genera and species levels.

  1. Identification of a novel FBN1 gene mutation in a large Pakistani family with Marfan syndrome

    NARCIS (Netherlands)

    Micheal, S.; Khan, M.I.; Akhtar, F.; Weiss, M.M.; Islam, F.; Ali, M.; Qamar, R.; Maugeri, A.; Hollander, A.I. den

    2012-01-01

    PURPOSE: To describe a novel mutation in the fibrillin-1 (FBN1) gene in a large Pakistani family with autosomal dominant Marfan syndrome (MFS). METHODS: Blood samples were collected of 11 family members affected with Marfan syndrome, and DNA was isolated by phenol-extraction. The coding exons of

  2. A family of conjugate gradient methods for large-scale nonlinear equations.

    Science.gov (United States)

    Feng, Dexiang; Sun, Min; Wang, Xueyong

    2017-01-01

    In this paper, we present a family of conjugate gradient projection methods for solving large-scale nonlinear equations. At each iteration, it needs low storage and the subproblem can be easily solved. Compared with the existing solution methods for solving the problem, its global convergence is established without the restriction of the Lipschitz continuity on the underlying mapping. Preliminary numerical results are reported to show the efficiency of the proposed method.

  3. Clinical cross-reactivity among foods of the Rosaceae family.

    Science.gov (United States)

    Rodriguez, J; Crespo, J F; Lopez-Rubio, A; De La Cruz-Bertolo, J; Ferrando-Vivas, P; Vives, R; Daroca, P

    2000-07-01

    Foods from the Rosaceae botanical family have been increasingly reported as causes of allergic reaction. Patients frequently have positive skin tests or radioallergosorbent test results for multiple members of this botanical family. Our purpose was to investigate the clinical cross-reactivity assessed by double-blind, placebo-controlled food challenge (DBPCFC) of Rosaceae foods (apricot, almond, plum, strawberry, apple, peach, and pear). Thirty-four consecutive adult patients complaining of adverse reactions to Rosaceae were included in the study. Skin prick tests and CAP System (FEIA) were performed with Rosaceae foods in all patients. Clinical reactivity to Rosaceae was systematically evaluated by open food challenges (OFCs), unless there was a convincing history of a recent severe anaphylaxis. Positive reactions on OFCs were subsequently evaluated by DBPCFCs. Twenty-six and 24 patients had positive skin prick tests and CAP FEIA with Rosaceae, respectively; from these 88% and 100% had positive tests with >/=2. No evidence of clinical reactivity was found in 66% percent of positive skin prick tests and 63% of positive specific IgE determinations to fruits. A total of 226 food challenges (including OFC and DBPCFC) were performed in the 28 patients with positive skin prick tests or CAP System FEIA. Of 182 initial OFCs carried out, 26 (14%) reactions were confirmed by DBPCFCs. Overall, 40 reactions were considered positive in 22 patients with positive skin tests or CAP FEIA. Thirty-eight reactions had been previously reported, the remaining two were detected by systematic challenges. Most reactions were caused by peach (22 patients), apple (6), and apricot (5). Ten patients (46%) were clinically allergic to peach and other Rosaceae. Positive skin test and CAP System FEIA should not be taken as the only guide for multi-species dietary restrictions. Nevertheless, the potential clinical allergy to other Rosaceae should not be neglected. If the reported reaction is

  4. 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.

  5. Dying in the Hospital: Perspectives of family members.

    Science.gov (United States)

    Dose, Ann Marie; Carey, Elise C; Rhudy, Lori M; Chiu, Yichen; Frimannsdottir, Katrin; Ottenberg, Abigale L; Koenig, Barbara A

    2015-01-01

    Although most patients express a preference to die at home, many (over 30 percent) still die in hospital. This study's purpose was to explore the experience of hospital death from the perspective of patients' family members. interviews were conducted with family members of patients who had died at hospitals affiliated with a large tertiary referral centre in the United States. Content analysis was used to analyze findings. We interviewed 30 family members by phone. Themes were arranged by time frame: before death, time of death, and after death. Families do not interpret clinical cues leading up to death in the same way healthcare providers do; families need clear and direct explanations from providers. Clinicians should assess patient and family understandings of prognosis and communicate clearly and directly. Family members value being with their loved one at the time of death, and they value spending time with the body after death; this should be facilitated in clinical practice.

  6. The Impact of Reproductive Health Legislation on Family Planning Clinic Services in Texas

    Science.gov (United States)

    Hopkins, Kristine; Aiken, Abigail R. A.; Stevenson, Amanda; Hubert, Celia; Grossman, Daniel; Potter, Joseph E.

    2015-01-01

    We examined the impact of legislation in Texas that dramatically cut and restricted participation in the state’s family planning program in 2011 using surveys and interviews with leaders at organizations that received family planning funding. Overall, 25% of family planning clinics in Texas closed. In 2011, 71% of organizations widely offered long-acting reversible contraception; in 2012–2013, only 46% did so. Organizations served 54% fewer clients than they had in the previous period. Specialized family planning providers, which were the targets of the legislation, experienced the largest reductions in services, but other agencies were also adversely affected. The Texas experience provides valuable insight into the potential effects that legislation proposed in other states may have on low-income women’s access to family planning services. PMID:25790404

  7. A family of conjugate gradient methods for large-scale nonlinear equations

    Directory of Open Access Journals (Sweden)

    Dexiang Feng

    2017-09-01

    Full Text Available Abstract In this paper, we present a family of conjugate gradient projection methods for solving large-scale nonlinear equations. At each iteration, it needs low storage and the subproblem can be easily solved. Compared with the existing solution methods for solving the problem, its global convergence is established without the restriction of the Lipschitz continuity on the underlying mapping. Preliminary numerical results are reported to show the efficiency of the proposed method.

  8. Analysis of large deletions in BRCA1, BRCA2 and PALB2 genes in Finnish breast and ovarian cancer families

    International Nuclear Information System (INIS)

    Pylkäs, Katri; Erkko, Hannele; Nikkilä, Jenni; Sólyom, Szilvia; Winqvist, Robert

    2008-01-01

    BRCA1 and BRCA2 are the two most important genes associated with familial breast and ovarian cancer susceptibility. In addition, PALB2 has recently been identified as a breast cancer susceptibility gene in several populations. Here we have evaluated whether large genomic rearrangement in these genes could explain some of Finnish breast and/or ovarian cancer families. Altogether 61 index patients of Northern Finnish breast and/or ovarian cancer families were analyzed by Multiplex ligation-dependent probe amplification (MLPA) method in order to identify exon deletions and duplications in BRCA1, BRCA2 and PALB2. The families have been comprehensively screened for germline mutation in these genes by conventional methods of mutation analysis and were found negative. We identified one large deletion in BRCA1, deleting the most part of the gene (exon 1A-13) in one family with family history of ovarian cancer. No large genomic rearrangements were identified in either BRCA2 or PALB2. In Finland, women eligible for BRCA1 or BRCA2 mutation screening, when found negative, could benefit from screening for large genomic rearrangements at least in BRCA1. On the contrary, the genomic rearrangements in PALB2 seem not to contribute to the hereditary breast cancer susceptibility

  9. Familial and Clinical Correlates in Depressed Adolescents with Borderline Personality Disorder Traits

    Directory of Open Access Journals (Sweden)

    Jean Marc Guile

    2016-09-01

    Full Text Available Introduction: Chart review is a low-cost, but highly informative, method to describe symptoms, treatment and risk factors associated with Borderline Personality Disorder (BPD and to adapt screening and intervention to clinical reality. Previous chart review studies report more aggressiveness/anger and psychotic features in youths with BPD. They show that adverse family environment and parental psychopathology constitute important factors for BPD pathology. Objectives: To examine clinical characteristics of depressed BPD adolescents (12-17 years old outpatients according to gender and to explore variables which are associated with BPD traits. Methods: A retrospective chart review using the Child and Adolescent Version of the Retrospective Diagnostic Instrument for Borderlines was conducted on 30 depressed BPD adolescents with BPD traits and 28 non-BPD depressed patients without BPD traits. Participants who reached the C-DIB threshold for BPD were included in the BPD traits group. The Child and Adolescent Version of the Retrospective Diagnostic Interview for Borderlines was used to determine the presence of BPD. Comparisons analyses were performed using Pearson’s Chi-square test. Associated factors were determined using regression analyses. Results: BPD traits participants outpatients were characterised by higher family problems (parental psychopathology, parent disagreement/argument, parent-child relational problem, more aggressive symptoms, and higher rates of family intervention and hospitalisation. A number of familial factors (parental history of delinquency, substance use, or personality disorders, having siblings, parental disagreement/argument in boys were associated with BPD symptomatologytraits. Attention seeking and problematic functioning (does not adapt well to group activities were also associated with BPD traits. Discussion: Our study stresses the need to assess BPD traits in adolescent psychiatric evaluation, especially in

  10. Familiality of co-existing ADHD and tic disorders: evidence from a large sibling study

    Directory of Open Access Journals (Sweden)

    Veit Roessner

    2016-07-01

    Full Text Available AbstractBackground: The association of attention-deficit/hyperactivity disorder (ADHD and tic disorder (TD is frequent and clinically important. Very few and inconclusive attempts have been made to clarify if and how the combination of ADHD+TD runs in families. Aim: To determine the first time in a large-scale ADHD sample whether ADHD+TD increases the risk of ADHD+TD in siblings and, also the first time, if this is independent of their psychopathological vulnerability in general. Methods: The study is based on the International Multicenter ADHD Genetics (IMAGE study. The present sub-sample of 2815 individuals included ADHD-index patients with co-existing TD (ADHD+TD, n=262 and without TD (ADHD-TD, n=947 as well as their 1606 full siblings (n=358 of the ADHD+TD index patients and n=1248 of the ADHD-TD index patients. We assessed psychopathological symptoms in index patients and siblings by using the strength and difficulties questionnaire (SDQ and the parent and teacher Conners’ long version Rating Scales (CRS. For disorder classification the Parental Account of Childhood Symptoms (PACS-Interview was applied in n = 271 children. Odds ratio with the GENMOD procedure (PROCGENMOD was used to test if the risk for ADHD, TD and ADHD+TD in siblings was associated with the related index patients’ diagnoses. In order to get an estimate for specificity we compared the four groups for general psychopathological symptoms.Results: Co-existing ADHD+TD in index patients increased the risk of both comorbid ADHD+TD and TD in the siblings of these index patients. These effects did not extend to general psychopathology. Interpretation: Co-existence of ADHD+TD may segregate in families. The same holds true for TD (without ADHD. Hence, the segregation of TD (included in both groups seems to be the determining factor, independent of further behavioral problems. This close relationship between ADHD and TD supports the clinical approach to carefully assess ADHD in

  11. Quantitative linkage genome scan for atopy in a large collection of Caucasian families

    DEFF Research Database (Denmark)

    Webb, BT; van den Oord, E; Akkari, A

    2007-01-01

    adulthood, asthma is frequently associated also with quantitative measures of atopy. Genome wide quantitative multipoint linkage analysis was conducted for serum IgE levels and percentage of positive skin prick test (SPT(per)) using three large groups of families originally ascertained for asthma....... In this report, 438 and 429 asthma families were informative for linkage using IgE and SPT(per) which represents 690 independent families. Suggestive linkage (LOD >/= 2) was found on chromosomes 1, 3, and 8q with maximum LODs of 2.34 (IgE), 2.03 (SPT(per)), and 2.25 (IgE) near markers D1S1653, D3S2322-D3S1764...... represents one of the biggest genome scans so far reported for asthma related phenotypes. This study also demonstrates the utility of increased sample sizes and quantitative phenotypes in linkage analysis of complex disorders....

  12. The clinical application of percutaneous large core needle biopsy on large breast mass

    International Nuclear Information System (INIS)

    Peng Songhong; Ma Jie; Wang Guohong; Sun Guoping; Fu Jianmin; Zhou Dongxian

    2005-01-01

    Objective: An evaluation of the clinical application of percutaneous large core needle biopsy on large breast mass. Methods: Mammography and percutaneous large core needle biopsy were performed in 31 cases of large breast mass. Results: Apart from 5 cases showing characteristic calcification of malignancy, the rest cases were lack of diagnostic manifestation. Needle biopsy and pathological examination identified breast canner in 11 cases, suppurative mastitis in 9 case, fibrocystic mammary disorder in 7 cases, tuberculosis in 1 case, and fibroadenoma in 3 cases. Fibrocystic mammary disease was initially identified by biopsy in a case, while the following pathological diagnosis was fibrocystic mammary disorder with cancinoma in sim. Specificity rate of' biopsy was 96.8% and no false positive was observed. Vagotonia occurred in one case during the biopsy and hematoma in another. Conclusion: Percutaneous large core needle biopsy is a less invasive, simple, safe and reliable methods in the diagnosis of the large breast mass. And it may be recommended as a complementary procedure for routine imaging modality or surgical resection. (authors)

  13. 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.

  14. Discovering Related Clinical Concepts Using Large Amounts of Clinical Notes.

    Science.gov (United States)

    Ganesan, Kavita; Lloyd, Shane; Sarkar, Vikren

    2016-01-01

    The ability to find highly related clinical concepts is essential for many applications such as for hypothesis generation, query expansion for medical literature search, search results filtering, ICD-10 code filtering and many other applications. While manually constructed medical terminologies such as SNOMED CT can surface certain related concepts, these terminologies are inadequate as they depend on expertise of several subject matter experts making the terminology curation process open to geographic and language bias. In addition, these terminologies also provide no quantifiable evidence on how related the concepts are. In this work, we explore an unsupervised graphical approach to mine related concepts by leveraging the volume within large amounts of clinical notes. Our evaluation shows that we are able to use a data driven approach to discovering highly related concepts for various search terms including medications, symptoms and diseases.

  15. Discovering Related Clinical Concepts Using Large Amounts of Clinical Notes

    Directory of Open Access Journals (Sweden)

    Kavita Ganesan

    2016-01-01

    Full Text Available The ability to find highly related clinical concepts is essential for many applications such as for hypothesis generation, query expansion for medical literature search, search results filtering, ICD-10 code filtering and many other applications. While manually constructed medical terminologies such as SNOMED CT can surface certain related concepts, these terminologies are inadequate as they depend on expertise of several subject matter experts making the terminology curation process open to geographic and language bias. In addition, these terminologies also provide no quantifiable evidence on how related the concepts are. In this work, we explore an unsupervised graphical approach to mine related concepts by leveraging the volume within large amounts of clinical notes. Our evaluation shows that we are able to use a data driven approach to discovering highly related concepts for various search terms including medications, symptoms and diseases.

  16. Novel skeletal muscle ryanodine receptor mutation in a large Brazilian family with malignant hyperthermia.

    Science.gov (United States)

    McWilliams, S; Nelson, T; Sudo, R T; Zapata-Sudo, G; Batti, M; Sambuughin, N

    2002-07-01

    Malignant hyperthermia (MH) is an autosomal dominant disorder that predisposes susceptible individuals to a potentially life-threatening crisis when exposed to commonly used anesthetics. Mutations in the skeletal muscle calcium release channel, ryanodine receptor (RYR1) are associated with MH in over 50% of affected families. Linkage analysis of the RYR1 gene region at 19q13 was performed in a large Brazilian family and a distinct disease co-segregating haplotype was revealed in the majority of members with diagnosis of MH. Subsequent sequencing of RYR1 mutational hot spots revealed a nucleotide substitution of C to T at position 7062, causing a novel amino acid change from Arg2355 to Cys associated with MH in the family. Haplotype analysis of the RYR1 gene area at 19q13 in the family with multiple MH members is an important tool in identification of genetic cause underlying this disease.

  17. Establishing a family risk assessment clinic for breast cancer.

    LENUS (Irish Health Repository)

    Mulsow, Jurgen

    2012-02-01

    Breast cancer is the most common cancer affecting European women and the leading cause of cancer-related death. A total of 15-20% of women who develop breast cancer have a family history and 5-10% a true genetic predisposition. The identification and screening of women at increased risk may allow early detection of breast cancer and improve prognosis. We established a family risk assessment clinic in May 2005 to assess and counsel women with a family history of breast cancer, to initiate surveillance, and to offer risk-reducing strategies for selected high-risk patients. Patients at medium or high risk of developing breast cancer according to NICE guidelines were accepted. Family history was determined by structured questionnaire and interview. Lifetime risk of developing breast cancer was calculated using Claus and Tyrer-Cuzick scoring. Risk of carrying a breast cancer-related gene mutation was calculated using the Manchester system. One thousand two hundred and forty-three patients have been referred. Ninety-two percent were at medium or high risk of developing breast cancer. Formal assessment of risk has been performed in 368 patients, 73% have a high lifetime risk of developing breast cancer, and 72% a Manchester score >or=16. BRCA1\\/2 mutations have been identified in 14 patients and breast cancer diagnosed in two. Our initial experience of family risk assessment has shown there to be a significant demand for this service. Identification of patients at increased risk of developing breast cancer allows us to provide individuals with accurate risk profiles, and enables patients to make informed choices regarding their follow-up and management.

  18. Quality Primary Care and Family Planning Services for LGBT Clients: A Comprehensive Review of Clinical Guidelines.

    Science.gov (United States)

    Klein, David A; Malcolm, Nikita M; Berry-Bibee, Erin N; Paradise, Scott L; Coulter, Jessica S; Keglovitz Baker, Kristin; Schvey, Natasha A; Rollison, Julia M; Frederiksen, Brittni N

    2018-04-01

    LGBT clients have unique healthcare needs but experience a wide range of quality in the care that they receive. This study provides a summary of clinical guideline recommendations related to the provision of primary care and family planning services for LGBT clients. In addition, we identify gaps in current guidelines, and inform future recommendations and guidance for clinical practice and research. PubMed, Cochrane, and Agency for Healthcare Research and Quality electronic bibliographic databases, and relevant professional organizations' websites, were searched to identify clinical guidelines related to the provision of primary care and family planning services for LGBT clients. Information obtained from a technical expert panel was used to inform the review. Clinical guidelines meeting the inclusion criteria were assessed to determine their alignment with Institute of Medicine (IOM) standards for the development of clinical practice guidelines and content relevant to the identified themes. The search parameters identified 2,006 clinical practice guidelines. Seventeen clinical guidelines met the inclusion criteria. Two of the guidelines met all eight IOM criteria. However, many recommendations were consistent regarding provision of services to LGBT clients within the following themes: clinic environment, provider cultural sensitivity and awareness, communication, confidentiality, coordination of care, general clinical principles, mental health considerations, and reproductive health. Guidelines for the primary and family planning care of LGBT clients are evolving. The themes identified in this review may guide professional organizations during guideline development, clinicians when providing care, and researchers conducting LGBT-related studies.

  19. Clinical verification of genetic results returned to research participants: findings from a Colon Cancer Family Registry.

    Science.gov (United States)

    Laurino, Mercy Y; Truitt, Anjali R; Tenney, Lederle; Fisher, Douglass; Lindor, Noralane M; Veenstra, David; Jarvik, Gail P; Newcomb, Polly A; Fullerton, Stephanie M

    2017-11-01

    The extent to which participants act to clinically verify research results is largely unknown. This study examined whether participants who received Lynch syndrome (LS)-related findings pursued researchers' recommendation to clinically verify results with testing performed by a CLIA-certified laboratory. The Fred Hutchinson Cancer Research Center site of the multinational Colon Cancer Family Registry offered non-CLIA individual genetic research results to select registry participants (cases and their enrolled relatives) from 2011 to 2013. Participants who elected to receive results were counseled on the importance of verifying results at a CLIA-certified laboratory. Twenty-six (76.5%) of the 34 participants who received genetic results completed 2- and 12-month postdisclosure surveys; 42.3% of these (11/26) participated in a semistructured follow-up interview. Within 12 months of result disclosure, only 4 (15.4%) of 26 participants reported having verified their results in a CLIA-certified laboratory; of these four cases, all research and clinical results were concordant. Reasons for pursuing clinical verification included acting on the recommendation of the research team and informing future clinical care. Those who did not verify results cited lack of insurance coverage and limited perceived personal benefit of clinical verification as reasons for inaction. These findings suggest researchers will need to address barriers to seeking clinical verification in order to ensure that the intended benefits of returning genetic research results are realized. © 2017 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc.

  20. Monetary Value of a Prescription Assistance Program Service in a Rural Family Medicine Clinic

    Science.gov (United States)

    Whitley, Heather P.

    2011-01-01

    Purpose: To quantify the monetary value of medications provided to rural Alabamians through provision of pharmaceutical manufacturer-sponsored prescription assistance programs (PAPs) provided by a clinical pharmacist in a private Black Belt family medicine clinic during 2007 and 2008. Methods: Patients struggling to afford prescription medications…

  1. Health care professionals' concerns regarding in-hospital family-witnessed cardiopulmonary resuscitation implementation into clinical practice.

    Science.gov (United States)

    Sak-Dankosky, Natalia; Andruszkiewicz, Paweł; Sherwood, Paula R; Kvist, Tarja

    2018-05-01

    In-hospital, family-witnessed cardiopulmonary resuscitation of adults has been found to help patients' family members deal with the short- and long-term emotional consequences of resuscitation. Because of its benefits, many national and international nursing and medical organizations officially recommend this practice. Research, however, shows that family-witnessed resuscitation is not widely implemented in clinical practice, and health care professionals generally do not favour this recommendation. To describe and provide an initial basis for understanding health care professionals' views and perspectives regarding the implementation of an in-hospital, family-witnessed adult resuscitation practice in two European countries. An inductive qualitative approach was used in this study. Finnish (n = 93) and Polish (n = 75) emergency and intensive care nurses and physicians provided written responses to queries regarding their personal observations, concerns and comments about in-hospital, family-witnessed resuscitation of an adult. Data were analysed using inductive thematic analysis. The study analysis yielded five themes characterizing health care professionals' main concerns regarding family-witnessed resuscitation: (1) family's horror, (2) disturbed workflow (3) no support for the family, (4) staff preparation and (5) situation-based decision. Despite existing evidence revealing the positive influence of family-witnessed resuscitation on patients, relatives and cardiopulmonary resuscitation process, Finnish and Polish health care providers cited a number of personal and organizational barriers against this practice. The results of this study begin to examine reasons why family-witnessed resuscitation has not been widely implemented in practice. In order to successfully apply current evidence-based resuscitation guidelines, provider concerns need to be addressed through educational and organizational changes. This study identified important implementation

  2. Quantitative linkage genome scan for atopy in a large collection of Caucasian families

    DEFF Research Database (Denmark)

    Webb, BT; van den Oord, E; Akkari, A

    2007-01-01

    Quantitative phenotypes correlated with a complex disorder offer increased power to detect linkage in comparison to affected-unaffected classifications. Asthma is a complex disorder characterized by periods of bronchial obstruction and increased bronchial hyper reactivity. In childhood and early...... adulthood, asthma is frequently associated also with quantitative measures of atopy. Genome wide quantitative multipoint linkage analysis was conducted for serum IgE levels and percentage of positive skin prick test (SPT(per)) using three large groups of families originally ascertained for asthma....... In this report, 438 and 429 asthma families were informative for linkage using IgE and SPT(per) which represents 690 independent families. Suggestive linkage (LOD >/= 2) was found on chromosomes 1, 3, and 8q with maximum LODs of 2.34 (IgE), 2.03 (SPT(per)), and 2.25 (IgE) near markers D1S1653, D3S2322-D3S1764...

  3. Evaluation of perceived and actual competency in a family medicine objective structured clinical examination.

    Science.gov (United States)

    Graves, Lisa; Lalla, Leonora; Young, Meredith

    2017-04-01

    To examine the relationship between objective assessment of performance and self-rated competence immediately before and after participation in a required summative family medicine clerkship objective structured clinical examination (OSCE). Learners rated their competence (on a 7-point Likert scale) before and after an OSCE along 3 dimensions: general, specific, and professional competencies relevant to family medicine. McGill University in Montreal, Que. All 168 third-year clinical clerks completing their mandatory family medicine rotation in 2010 to 2011 were invited to participate. Self-ratings of competence and objective performance scores were compared, and were examined to determine if OSCEs could be a "corrective" tool for self-rating perceived competence (ie, if the experience of undergoing an assessment might assist learners in recalibrating their understanding of their own performance). A total of 140 (83%) of the third-year clinical clerks participated. Participating in an OSCE decreased learners' ratings of perceived competence (pre-OSCE score = 4.9, post-OSCE score = 4.7; F 1,3192 = 4.2; P  competence for all categories of behaviour (before and after) showed no relationship to OSCE performance ( r .08 for all), nor did ratings of station-relevant competence (before and after) ( r .09 for all). Ratings of competence before and after the OSCE were correlated for individual students ( r > 0.40 and P perceived competence had decreased, and these ratings had little relationship to actual performance, regardless of the specificity of the rated competency. Discordance between perceived and actual competence is neither novel nor unique to family medicine. However, this discordance is an important consideration for the development of competency-based curricula. Copyright© the College of Family Physicians of Canada.

  4. Clinical relevance of apolipoprotein E genotyping based on a family history of Alzheimer's disease.

    Science.gov (United States)

    Luckhoff, Hilmar K; Brand, Theresa; van Velden, Dawid P; Kidd, Martin; Fisher, Leslie R; van Rensburg, Susan J; Kotze, Maritha J

    2015-01-01

    Having a family history of Alzheimer' s disease (AD) may potentiate cumulative risk associated with phenotypic expression of the ε-4 allele of the apolipoprotein E (APOE) gene. In this study, we compared the genotype distribution and allele frequencies of APOE ε-2 (rs7412) and ε -4 (rs429358) in 537 South African individuals participating in a chronic disease screening program, in order to establish whether AD family history modulates the expression of their dyslipidemic effects. Significant differences in the genotype distribution for APOE ε-2 (p=0.034) as well as APOE ε-4 (p=0.038) were found between study participants with (n=67) and without (n=470) a family history of AD. LDL cholesterol levels were inversely associated with physical activity in the study group with a positive family history of AD (pfamilial hypercholesterolemia, clinical inquiry regarding family history was identified as an important determinant of eligibility for APOE genotyping performed in the context of chronic disease risk management. To our knowledge, this is the first study to demonstrate the modulating influence of AD family history on expression of a dyslipidemic phenotype associated with the APOE ε-4 allele. Our findings provide the scientific rationale supporting a novel clinical application for APOE genotyping as a means of identifying a genetic subgroup of dyslipidemic patients set to derive the greatest benefit from early lifestyle-based interventions aimed at decreasing cumulative risk for cardiovascular disease and prevention of AD later in life.

  5. Reaching national consensus on the core clinical skill outcomes for family medicine postgraduate training programmes in South Africa.

    Science.gov (United States)

    Akoojee, Yusuf; Mash, Robert

    2017-05-26

    Family physicians play a significant role in the district health system and need to be equipped with a broad range of clinical skills in order to meet the needs and expectations of the communities they serve. A previous study in 2007 reached national consensus on the clinical skills that should be taught in postgraduate family medicine training prior to the introduction of the new speciality. Since then, family physicians have been trained, employed and have gained experience of working in the district health services. The national Education and Training Committee of the South African Academy of Family Physicians, therefore, requested a review of the national consensus on clinical skills for family medicine training. A Delphi technique was used to reach national consensus in a panel of 17 experts: family physicians responsible for training, experienced family physicians in practice and managers responsible for employing family physicians. Consensus was reached on 242 skills from which the panel decided on 211 core skills, 28 elective skills and 3 skills to be deleted from the previous list. The panel was unable to reach consensus on 11 skills. The findings will guide training programmes on the skills to be addressed and ensure consistency across training programmes nationally. The consensus will also guide formative assessment as documented in the national portfolio of learning and summative assessment in the national exit examination. The consensus will be of interest to other countries in the region where training programmes in family medicine are developing.

  6. A large pericardial effusion and bilateral pleural effusions as the initial manifestations of Familial Mediterranean Fever

    OpenAIRE

    Schembri, Emma Louise; Mifsud, Simon; Cassar Demarco, Daniela; Coleiro, Bernard; Mallia, Carmel

    2015-01-01

    Familial Mediterranean Fever (FMF) is a condition characterized by recurrent febrile poly-serositis. Typical presentations of the disease include episodes of fever, abdominal pain and joint pains. Chest pain is a less common presentation. We report a case of FMF which presented with a large pericardial effusion and bilateral pleural effusions in a lady who had no positive family history and negative genetic testing.

  7. Family Functioning and Relationship Quality for Adolescents in Family-based Treatment with Severe Anorexia Nervosa Compared with Non-clinical Adolescents.

    Science.gov (United States)

    Wallis, Andrew; Miskovic-Wheatley, Jane; Madden, Sloane; Rhodes, Paul; Crosby, Ross D; Cao, Li; Touyz, Stephen

    2018-01-01

    This longitudinal study explored family functioning and relationship quality for adolescents with severe anorexia nervosa (AN). An important outcome given healthy family functioning supports effective adolescent development. Fifty-four female adolescents and their parents, treated with family-based treatment after inpatient admission, and 49 non-clinical age-matched adolescents and their parents were compared at assessment and 6 months after session 20. At baseline, AN group mothers and fathers reported poorer family function. AN adolescents were notably similar to controls, reporting poorer function in only one domain. There were no changes for adolescents, an improvement for mothers in the AN group, but an increase in perceived impairment for fathers in both groups, with AN fathers more affected. The similarity in adolescent reports and the increase for fathers over time may indicate that normal adolescent family processes occur even in the midst of serious illness. There is a need to provide intervention to ameliorate the impact of treatment on parents. Copyright © 2017 John Wiley & Sons, Ltd and Eating Disorders Association. Copyright © 2017 John Wiley & Sons, Ltd and Eating Disorders Association.

  8. A Conceptual Model and Clinical Framework for Integrating Mindfulness into Family Therapy with Adolescents.

    Science.gov (United States)

    Brody, Janet L; Scherer, David G; Turner, Charles W; Annett, Robert D; Dalen, Jeanne

    2017-06-07

    Individual and group-based psychotherapeutic interventions increasingly incorporate mindfulness-based principles and practices. These practices include a versatile set of skills such as labeling and attending to present-moment experiences, acting with awareness, and avoiding automatic reactivity. A primary motivation for integrating mindfulness into these therapies is compelling evidence that it enhances emotion regulation. Research also demonstrates that family relationships have a profound influence on emotion regulation capacities, which are central to family functioning and prosocial behavior more broadly. Despite this evidence, no framework exists to describe how mindfulness might integrate into family therapy. This paper describes the benefits of mindfulness-based interventions, highlighting how and why informal mindfulness practices might enhance emotion regulation when integrated with family therapy. We provide a clinical framework for integrating mindfulness into family therapy, particularly as it applies to families with adolescents. A brief case example details sample methods showing how incorporating mindfulness practices into family therapy may enhance treatment outcomes. A range of assessment modalities from biological to behavioral demonstrates the breadth with which the benefits of a family-based mindfulness intervention might be evaluated. © 2017 The Authors. Family Process published by Wiley Periodicals, Inc. on behalf of Family Process Institute.

  9. Characteristics of patients with erectile dysfunction in a family physician-led erectile dysfunction clinic: Retrospective case series

    OpenAIRE

    Lap Kin Chiang; Cheuk-Wai Kam; Kin-Chung Michael Yau; Lorna Ng

    2017-01-01

    Objectives: 1. To examine the characteristics of patients with erectile dysfunction in a family physician led erectile dysfunction clinic; 2. To review association of chronic disease spectrum and erectile dysfunction; 3. To review initial treatment pattern and outcome. Design: Retrospective case series review. Subjects: All consecutive patients seen in a regional hospital family physician led erectile dysfunction clinic from April 2014 to March 2015. Main outcome measures: 1. The severity of ...

  10. Family functioning in bipolar disorder: Characteristics, congruity between patients and relatives, and clinical correlates.

    Science.gov (United States)

    Reinares, María; Bonnín, C Mar; Hidalgo-Mazzei, Diego; Colom, Francesc; Solé, Brisa; Jiménez, Esther; Torrent, Carla; Comes, Mercè; Martínez-Arán, Anabel; Sánchez-Moreno, José; Vieta, Eduard

    2016-11-30

    Functional improvement has become one of the aims of the treatment of bipolar disorder. However, scant attention has been given to family functioning, even though it has a role in the illness outcome and is affected by the disorder. The aims of this study were to compare family functioning reported by euthymic patients with bipolar disorder and healthy controls; explore the level of congruence in the perception of family environment between patients with bipolar disorder and their relatives; and analyse the relationship between clinical variables and family functioning. The sample comprised 82 adult euthymic subjects with bipolar disorder, 82 family caregivers of these patients and 47 healthy controls. Participants completed the Family Environment Scale. Results showed moderate correlations and a mean pattern almost identical between relatives' and patients' reported scores in family functioning subscales. There were significant differences between patients and controls, favourable for the latter, in the subscales cohesion (pbipolar disorder and highlight the importance of family work. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  11. Alzheimer disease-like clinical phenotype in a family with FTDP-17 caused by a MAPT R406W mutation

    DEFF Research Database (Denmark)

    Lindquist, S.G.; Holm, I.E.; Schwartz, M.

    2008-01-01

    We report clinical, molecular, neuroimaging and neuropathological features of a Danish family with autosomal dominant inherited dementia, a clinical phenotype resembling Alzheimer's disease and a pathogenic mutation (R406W) in the microtubule associated protein tau (MAPT) gene. Pre-symptomatic an......We report clinical, molecular, neuroimaging and neuropathological features of a Danish family with autosomal dominant inherited dementia, a clinical phenotype resembling Alzheimer's disease and a pathogenic mutation (R406W) in the microtubule associated protein tau (MAPT) gene. Pre...

  12. Clinical and genetic investigation of families with type II Waardenburg syndrome.

    Science.gov (United States)

    Chen, Yong; Yang, Fuwei; Zheng, Hexin; Zhou, Jianda; Zhu, Ganghua; Hu, Peng; Wu, Weijing

    2016-03-01

    The present study aimed to investigate the molecular pathology of Waardenburg syndrome type II in three families, in order to provide genetic diagnosis and hereditary counseling for family members. Relevant clinical examinations were conducted on the probands of the three pedigrees. Peripheral blood samples of the probands and related family members were collected and genomic DNA was extracted. The coding sequences of paired box 3 (PAX3), microphthalmia‑associated transcription factor (MITF), sex‑determining region Y‑box 10 (SOX10) and snail family zinc finger 2 (SNAI2) were analyzed by polymerase chain reaction and DNA sequencing. The heterozygous mutation, c.649_651delAGA in exon 7 of the MITF gene was detected in the proband and all patients of pedigree 1; however, no pathological mutation of the relevant genes (MITF, SNAI2, SOX10 or PAX3) was detected in pedigrees 2 and 3. The heterozygous mutation c.649_651delAGA in exon 7 of the MITF gene is therefore considered the disease‑causing mutation in pedigree 1. However, there are novel disease‑causing genes in Waardenburg syndrome type II, which require further research.

  13. Clinical reinvestigation and linkage analysis in the family with Episkopi blindness (Norrie disease).

    OpenAIRE

    Wolff, G; Mayerová, A; Wienker, T F; Atalianis, P; Ioannou, P; Warburg, M

    1992-01-01

    We present the results of a clinical and genetic reinvestigation of the Cypriot family affected by an X chromosomally inherited eye disease originally published by Taylor et al, who coined the term Episkopi blindness. The pedigree was extended to 160 members, including 16 affected males out of 48 males at risk for the disease, most of whom were seen by one of us (PA). Affected males are blind with no associated symptoms and apparently are not mentally retarded. Thirty-nine family members agre...

  14. Novel APC mutations in Czech and Slovak FAP families: clinical and genetic aspects

    Directory of Open Access Journals (Sweden)

    Vesela Kamila

    2007-04-01

    Full Text Available Abstract Background Germline mutations in the adenomatous polyposis gene (APC result in familial adenomatous polyposis (FAP. FAP is an autosomal dominantly inherited disorder predisposing to colorectal cancer. Typical FAP is characterized by hundreds to thousands of colorectal adenomatous polyps and by several extracolonic manifestations. An attenuated form of polyposis (AFAP is characterized by less than 100 adenomas and later onset of the disease. Methods Here, we analyzed the APC gene for germline mutations in 59 Czech and 15 Slovak FAP patients. In addition, 50 apparently APC mutation negative Czech probands and 3 probands of Slovak origin were screened for large deletions encompassing the APC gene. Mutation screening was performed using denaturing gradient gel electrophoresis and/or protein truncation test. DNA fragments showing an aberrant electrophoretic banding pattern were sequenced. Screening for large deletions was performed by multiplex ligation dependent probe amplification. The extent of deletions was analyzed using following microsatellite markers: D5S299, D5S82, D5S134 and D5S346. Results In the set of Czech and Slovak patients, we identified 46 germline mutations among 74 unrelated probands. Total mutation capture is 62,2% including large deletions. Thirty seven mutations were detected in 49 patients presenting a classical FAP phenotype (75,5% and 9 mutations in 25 patients with attenuated FAP (36%. We report 20 novel germline APC mutations and 3 large deletions (6% encompassing the whole-gene deletions and/or exon 14 deletion. In the patients with novel mutations, correlations of the mutation localization are discussed in context of the classical and/or attenuated phenotype of the disease. Conclusion The results of the molecular genetic testing are used both in the establishment of the predictive diagnosis and in the clinical management of patients. In some cases this study has also shown the difficulty to classify clinically

  15. The roles of men in family planning - a study of married men at the UKM primary care clinic.

    Science.gov (United States)

    Ling, Jes; Tong, S F

    2017-01-01

    Traditionally, family planning initiatives were concentrated on women despite it being a family matter. As family dynamics evolved over the years, fathers' involvement in family planning has become crucial in enhancing the family well-being. This study aimed to identify the role played by men in family planning activities and the association of socio-economic characteristics with these roles. This was a cross-sectional study carried out in a university primary care clinic. All married male attendees to the clinic, aged 50 years and below, were approached to answer a set of self-administered questionnaires, asking for their involvement in family planning practices. The data were analysed using descriptive and inferential statistics. There were 167 participants in the study. A high proportion of men participated in the discussions regarding previous pregnancies (60.42%), future child planning (89.76%) and desired family size (89.76%). However, the discussions on the usage of family planning methods (FPMs; 39.16%) were significantly low. Socio-economic factors associated with higher likelihood of men discussing family planning activities were older age ( p family planning activities. The roles taken by men in family planning were associated with older age and higher socio-economic class. The majority of men needs to be encouraged to play a more active role in the discussion of FPMs.

  16. Quantitative Analysis of Contributing Factors Affecting Patient Satisfaction in Family Medicine Service Clinics at Brooke Army Medical Center

    Science.gov (United States)

    2008-06-06

    Predictors of patient satisfaction for Brooke Army Medical Center Family Medicine Service primary care clinics was performed. Data was obtained from...Factors Affecting Patient Satisfaction in Family Medicine Service Clinics at Brooke Army Medical Center Presented to MAJ Eric Schmacker, Ph.D. In...study. All patients ’ medical information was protected at all times and under no circumstances will be discussed or released to any outside agency

  17. Child versus family cognitive-behavioral therapy in clinically anxious youth : An efficacy and partial effectiveness study

    NARCIS (Netherlands)

    Bodden, Denise H. M.; Bogels, Susan M.; Nauta, Maaike H.; De Haan, Else; Ringrose, Jaap; Appelboom, Carla; Brinkman, Andries G.; Appelboom-Geerts, Karen C. M. M. J.

    2008-01-01

    Objective: The efficacy and partial effectiveness of child-focused versus family-focused cognitive-behavioral therapy (CBT) for clinically anxious youths was evaluated, in particular in relation to parental anxiety disorders and child's age. Method: Clinically referred children with anxiety

  18. Child Versus Family Cognitive-Behavioral Therapy in Clinically Anxious Youth: An Efficacy and Partial Effectiveness Study

    NARCIS (Netherlands)

    Bodden, D.H.M.; Bögels, S.M.; Nauta, M.H.; Haan, E. de; Ringrose, J.; Appelboom, C.; Brinkman, A.G.; Appelboom-Geerts, K.C.M.M.J.

    2008-01-01

    Objective: The efficacy and partial effectiveness of child-focused versus family-focused cognitive-behavioral therapy (CBT) for clinically anxious youths was evaluated, in particular in relation to parental anxiety disorders and child's age. Method: Clinically referred children with anxiety

  19. Improving family medicine resident training in dementia care: an experiential learning opportunity in Primary Care Collaborative Memory Clinics.

    Science.gov (United States)

    Lee, Linda; Weston, W Wayne; Hillier, Loretta; Archibald, Douglas; Lee, Joseph

    2018-06-21

    Family physicians often find themselves inadequately prepared to manage dementia. This article describes the curriculum for a resident training intervention in Primary Care Collaborative Memory Clinics (PCCMC), outlines its underlying educational principles, and examines its impact on residents' ability to provide dementia care. PCCMCs are family physician-led interprofessional clinic teams that provide evidence-informed comprehensive assessment and management of memory concerns. Within PCCMCs residents learn to apply a structured approach to assessment, diagnosis, and management; training consists of a tutorial covering various topics related to dementia followed by work-based learning within the clinic. Significantly more residents who trained in PCCMCs (sample = 98), as compared to those in usual training programs (sample = 35), reported positive changes in knowledge, ability, and confidence in ability to assess and manage memory problems. The PCCMC training intervention for family medicine residents provides a significant opportunity for residents to learn about best clinical practices and interprofessional care needed for optimal dementia care integrated within primary care practice.

  20. A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family

    NARCIS (Netherlands)

    Siddiqi, S.; Ismail, M.; Oostrik, J.; Munawar, S.; Mansoor, A.; Kremer, H.; Qamar, R.; Schraders, M.

    2014-01-01

    With homozygosity mapping we have identified two large homozygous regions on chromosome 3q13.11-q13.31 and chromosome 19p13.3-q31.32 in a large Pakistani family suffering from autosomal recessive nonsyndromic hearing impairment (arNSHI). The region on chromosome 19 overlaps with the previously

  1. Cognitive-Behavioral Therapy for Anxiety Disordered Youth: A Randomized Clinical Trial Evaluating Child and Family Modalities

    Science.gov (United States)

    Kendall, Philip C.; Hudson, Jennifer L.; Gosch, Elizabeth; Flannery-Schroeder, Ellen; Suveg, Cynthia

    2008-01-01

    This randomized clinical trial compared the relative efficacy of individual (child) cognitive-behavioral therapy (ICBT), family cognitive-behavioral therapy (FCBT), and a family-based education/support/attention (FESA) active control for treating anxiety disordered youth ages 7-14 years (M = 10.27). Youth (N = 161; 44% female; 85% Caucasian, 9%…

  2. Non-Hodgkin's lymphoma in the practice of the family doctor (clinical observation).

    OpenAIRE

    I. V. Vasylevska

    2018-01-01

    There is presented a clinical observation on the problem of establishing an oncological diagnosis by a family doctor, the route to a doctor-oncologist for specific treatment with subsequent work in the brigade team and medical support during the course of chemotherapy for the prevention and timely elimination of side effects and complications.

  3. Pulse oximetry in family practice: indications and clinical observations in patients with COPD.

    NARCIS (Netherlands)

    Schermer, T.R.J.; Leenders, J.L.H.; Veen, H. in 't; Bosch, W.J.H.M. van den; Wissink, A.; Smeele, I.J.M.; Chavannes, N.H.

    2009-01-01

    PURPOSE: To establish situations in which family physicians (FPs) consider pulse oximetry a valuable addition to their clinical patient assessment; to explore pulse oximetry results (SpO(2)) when used by FPs in patients with chronic obstructive pulmonary disease (COPD); to explore associations

  4. Clinical and molecular analysis of the enamelin gene ENAM in Colombian families with autosomal dominant amelogenesis imperfecta

    Directory of Open Access Journals (Sweden)

    Sandra Gutiérrez

    2012-01-01

    Full Text Available In this study, we analyzed the phenotype, clinical characteristics and presence of mutations in the enamelin gene ENAM in five Colombian families with autosomal dominant amelogenesis imperfecta (ADAI. 22 individuals (15 affected and seven unaffected belonging to five Colombian families with ADAI and eight individuals (three affected and five unaffected belonging to three Colombian families with autosomal recessive amelogenesis imperfecta (ARAI that served as controls for molecular alterations and inheritance patterns were studied. Clinical, radiographic and genetic evaluations were done in all individuals. Eight exons and three intron-exon boundaries were sequenced for mutation analysis. Two of the five families with ADAI had the hypoplasic phenotype, two had the hypocalcified phenotype and one had the hypomaturative phenotype. Anterior open bite and mandibular retrognathism were the most frequent skeletal abnormalities in the families with ADAI. No mutations were found. These findings suggest that ADAI in these Colombian families was unrelated to previously described mutations in the ENAM gene. These results also indicate that other regions not included in this investigation, such as the promoter region, introns and other genes should be considered as potential ADAI candidates.

  5. Mothers' and fathers' ratings of family relationship quality: associations with preadolescent and adolescent anxiety and depressive symptoms in a clinical sample.

    Science.gov (United States)

    Queen, Alexander H; Stewart, Lindsay M; Ehrenreich-May, Jill; Pincus, Donna B

    2013-06-01

    This study examined the independent associations among three family relationship quality factors--cohesion, expressiveness, and conflict--with youth self-reported depressive and anxiety symptoms in a clinical sample of anxious and depressed youth. Ratings of family relationship quality were obtained through both mother and father report. The sample included families of 147 preadolescents and adolescents (56.6 % female; 89.8 % Caucasian), 11-18 years old (M = 13.64, SD = 1.98) assigned a principal diagnosis of an anxiety or depressive disorder. When controlling for age and concurrent anxiety symptoms, regression analyses revealed that for boys, both father- and mother-rated family cohesion predicted depressive symptoms. For girls, mother-rated family expressiveness and conflict predicted depressive symptoms. Youth anxiety symptoms were not significantly associated with any family relationship variables, controlling for concurrent depressive symptoms. Findings suggest that parent-rated family relationship factors may be more related to youth depressive than anxiety symptoms in this clinical sample. In addition, family cohesion, as perceived by parents, may be more related to boys' depression, whereas expressiveness and conflict (as rated by mothers) may be more related to girls' depression. Clinical implications and recommendations for future research are discussed.

  6. Predicting Barrett's Esophagus in Families: An Esophagus Translational Research Network (BETRNet) Model Fitting Clinical Data to a Familial Paradigm.

    Science.gov (United States)

    Sun, Xiangqing; Elston, Robert C; Barnholtz-Sloan, Jill S; Falk, Gary W; Grady, William M; Faulx, Ashley; Mittal, Sumeet K; Canto, Marcia; Shaheen, Nicholas J; Wang, Jean S; Iyer, Prasad G; Abrams, Julian A; Tian, Ye D; Willis, Joseph E; Guda, Kishore; Markowitz, Sanford D; Chandar, Apoorva; Warfe, James M; Brock, Wendy; Chak, Amitabh

    2016-05-01

    Barrett's esophagus is often asymptomatic and only a small portion of Barrett's esophagus patients are currently diagnosed and under surveillance. Therefore, it is important to develop risk prediction models to identify high-risk individuals with Barrett's esophagus. Familial aggregation of Barrett's esophagus and esophageal adenocarcinoma, and the increased risk of esophageal adenocarcinoma for individuals with a family history, raise the necessity of including genetic factors in the prediction model. Methods to determine risk prediction models using both risk covariates and ascertained family data are not well developed. We developed a Barrett's Esophagus Translational Research Network (BETRNet) risk prediction model from 787 singly ascertained Barrett's esophagus pedigrees and 92 multiplex Barrett's esophagus pedigrees, fitting a multivariate logistic model that incorporates family history and clinical risk factors. The eight risk factors, age, sex, education level, parental status, smoking, heartburn frequency, regurgitation frequency, and use of acid suppressant, were included in the model. The prediction accuracy was evaluated on the training dataset and an independent validation dataset of 643 multiplex Barrett's esophagus pedigrees. Our results indicate family information helps to predict Barrett's esophagus risk, and predicting in families improves both prediction calibration and discrimination accuracy. Our model can predict Barrett's esophagus risk for anyone with family members known to have, or not have, had Barrett's esophagus. It can predict risk for unrelated individuals without knowing any relatives' information. Our prediction model will shed light on effectively identifying high-risk individuals for Barrett's esophagus screening and surveillance, consequently allowing intervention at an early stage, and reducing mortality from esophageal adenocarcinoma. Cancer Epidemiol Biomarkers Prev; 25(5); 727-35. ©2016 AACR. ©2016 American Association for

  7. Child versus Family Cognitive-Behavioral Therapy in Clinically Anxious Youth: An Efficacy and Partial Effectiveness Study

    Science.gov (United States)

    Bodden, Denise H. M.; Bogels, Susan M.; Nauta, Maaike H.; De Hann, Else; Ringrose, Jaap; Appelboom, Carla; Brinkman, Andries G.; Appelboom-Geerts, Karen C. M. M. J.

    2008-01-01

    Child-focused and family-focused cognitive-behavioral therapy (CBT) for 128 children with clinical anxiety disorders and their parents were compared in terms of efficacy and partial effectiveness. Results indicate that 53% of the children under the child CBT became free of anxiety disorders at posttreamtent compared to only 28% under family CBT.…

  8. Non-Hodgkin's lymphoma in the practice of the family doctor (clinical observation.

    Directory of Open Access Journals (Sweden)

    I. V. Vasylevska

    2018-05-01

    Full Text Available There is presented a clinical observation on the problem of establishing an oncological diagnosis by a family doctor, the route to a doctor-oncologist for specific treatment with subsequent work in the brigade team and medical support during the course of chemotherapy for the prevention and timely elimination of side effects and complications.

  9. Sleep Bruxism-Tooth Grinding Prevalence, Characteristics and Familial Aggregation: A Large Cross-Sectional Survey and Polysomnographic Validation

    Science.gov (United States)

    Khoury, Samar; Carra, Maria Clotilde; Huynh, Nelly; Montplaisir, Jacques; Lavigne, Gilles J.

    2016-01-01

    Study Objectives: Sleep bruxism (SB) is characterized by tooth grinding and jaw clenching during sleep. Familial factors may contribute to the occurrence of SB. This study aims are: (1) revisit the prevalence and characteristics of SB in a large cross-sectional survey and assess familial aggregation of SB, (2) assess comorbidity such as insomnia and pain, (3) compare survey data in a subset of subjects diagnosed using polysomnography research criteria. Methods: A sample of 6,357 individuals from the general population in Quebec, Canada, undertook an online survey to assess the prevalence of SB, comorbidities, and familial aggregation. Data on familial aggregation were compared to 111 SB subjects diagnosed using polysomnography. Results: Regularly occurring SB was reported by 8.6% of the general population, decreases with age, without any gender difference. SB awareness is concomitant with complaints of difficulties maintaining sleep in 47.6% of the cases. A third of SB positive probands reported pain. A 2.5 risk ratio of having a first-degree family member with SB was found in SB positive probands. The risk of reporting SB in first-degree family ranges from 1.4 to 2.9 with increasing severity of reported SB. Polysomnographic data shows that 37% of SB subjects had at least one first-degree relative with reported SB with a relative risk ratio of 4.625. Conclusions: Our results support the heritability of SB-tooth grinding and that sleep quality and pain are concomitant in a significant number of SB subjects. Citation: Khoury S, Carra MC, Huynh N, Montplaisir J, Lavigne GJ. Sleep bruxism-tooth grinding prevalence, characteristics and familial aggregation: a large cross-sectional survey and polysomnographic validation. SLEEP 2016;39(11):2049–2056. PMID:27568807

  10. 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

  11. Self-esteem, stress and self-rated health in family planning clinic patients

    Directory of Open Access Journals (Sweden)

    Young Rodney

    2004-06-01

    Full Text Available Abstract Background The independent effects of stress on the health of primary care patients might be different for different types of clinic populations. This study examines these relationships in a low-income female population of patients attending a family planning clinic. Methods This study investigated the relevance of different sources of personal stress and social support to self-rated health, adjusting for mental health, health behavior and demographic characteristics of subjects. Five hundred women who attended family planning clinics were surveyed and 345 completed the form for a response rate of 72 percent. Results Multiple logistic regression analysis revealed that liking oneself was related to good self-rated health (Odds ratio = 7.11, but stress or support from children, parents, friends, churches or spouses were not significant. White non-Hispanic and non-white non-Hispanic respondents had lower odds of reporting good self-rated health than Hispanic respondents (odds ratios were 2.87 and 2.81, respectively. Exercising five or more days per week also was related to good self-rated health. Smoking 20 or more cigarettes per day, and obese III were negatively related to good self-rated health (odds ratios were .19 and .22, respectively with corresponding p-values equal to .0043 and .0332. Conclusions Among younger low-income women, addressing low self-esteem might improve health status.

  12. Clinical, Endocrine, and Molecular Genetic Analysis of a Large Cohort of Saudi Arabian Patients with Laron Syndrome.

    Science.gov (United States)

    Al-Ashwal, Abdullah A; Al-Sagheir, Afaf; Ramzan, Khushnooda; Al-Owain, Mohammed; Allam, Rabab; Qari, Alya; Al-Numair, Nouf S; Imtiaz, Faiqa

    2017-01-01

    Laron syndrome (LS) is an autosomal recessive disease characterized by marked short stature and very low serum IGF-1 and IGFBP-3 levels. This study assessed the clinical and endocrine features alongside determining the growth hormone receptor gene (GHR) mutation in Saudi Arabian patients with LS in order to establish whether or not a genotype/phenotype correlation is evident in this large cohort. A total of 40 Saudi Arabian patients with a suspected diagnosis of LS were recruited and subjected to a full clinical and endocrine investigation together with direct sequencing of the coding regions of the GHR gene. GHR mutations were identified in 34 patients from 22 separate nuclear families. All 34 molecularly confirmed patients had the typical clinical and endocrinological manifestations of LS. Eleven different mutations (9 previously unreported) were detected in this cohort of patients, all inherited in an autosomal recessive homozygous form. No genotype/phenotype correlation was apparent. The identification of pathogenic mutations causing LS will be of tremendous use for the molecular diagnosis of patients in Saudi Arabia and the region in general, with respect to prevention of this disease in the forms of future carrier testing, prenatal testing, premarital screening and preimplantation genetic diagnosis. © 2017 S. Karger AG, Basel.

  13. Financial management of a large multisite randomized clinical trial.

    Science.gov (United States)

    Sheffet, Alice J; Flaxman, Linda; Tom, MeeLee; Hughes, Susan E; Longbottom, Mary E; Howard, Virginia J; Marler, John R; Brott, Thomas G

    2014-08-01

    The Carotid Revascularization Endarterectomy versus Stenting Trial (CREST) received five years' funding ($21 112 866) from the National Institutes of Health to compare carotid stenting to surgery for stroke prevention in 2500 randomized participants at 40 sites. Herein we evaluate the change in the CREST budget from a fixed to variable-cost model and recommend strategies for the financial management of large-scale clinical trials. Projections of the original grant's fixed-cost model were compared to the actual costs of the revised variable-cost model. The original grant's fixed-cost budget included salaries, fringe benefits, and other direct and indirect costs. For the variable-cost model, the costs were actual payments to the clinical sites and core centers based upon actual trial enrollment. We compared annual direct and indirect costs and per-patient cost for both the fixed and variable models. Differences between clinical site and core center expenditures were also calculated. Using a variable-cost budget for clinical sites, funding was extended by no-cost extension from five to eight years. Randomizing sites tripled from 34 to 109. Of the 2500 targeted sample size, 138 (5·5%) were randomized during the first five years and 1387 (55·5%) during the no-cost extension. The actual per-patient costs of the variable model were 9% ($13 845) of the projected per-patient costs ($152 992) of the fixed model. Performance-based budgets conserve funding, promote compliance, and allow for additional sites at modest additional cost. Costs of large-scale clinical trials can thus be reduced through effective management without compromising scientific integrity. © 2014 The Authors. International Journal of Stroke © 2014 World Stroke Organization.

  14. The influence of family history on prostate cancer risk : implications for clinical management

    NARCIS (Netherlands)

    Madersbacher, Stephan; Alcaraz, Antonio; Emberton, Mark; Hammerer, Peter; Ponholzer, Anton; Schroeder, Fritz H.; Tubaro, Andrea

    A family history of prostate cancer has long been identified as an important risk factor for developing the disease. This risk factor can be easily assessed in clinical practice and current guidelines recommend to initiate prostate cancer early detection 5 years earlier (i.e. around the age of 40

  15. Perceptions of clients regarding family planning service delivery in a clinic of the Greater Johannesburg Metropolitan Council

    Directory of Open Access Journals (Sweden)

    A. Kellner

    2010-09-01

    Full Text Available Unwanted pregnancies with their negative impact on both women and children occur on an ongoing basis in Gauteng, South Africa. One way to prevent unwanted pregnancies is to use a reliable contraceptive method available free of charge from primary health care clinics providing family planning services throughout Gauteng Province. A literature review was completed on women and access to family planning services and an interview schedule (questionnaire was developed. The purpose of this study was to describe guidelines to meet the expectations of clients accessing family planning services provided by a clinic in Region F, Area 28 of the Greater Johannesburg metropolitan council. This quantitative, exploratory, descriptive and comparative study measured the gaps between the expectations of participants on service delivery and the extent to which these expectations were met. A convenience sample was conducted and consisted of 50 women of reproductive age (ages 15 to 49 attending the family planning clinic. Pre-testing of the instrument was conducted. Structured interviews with a interview schedule were conducted before and after women attended a family planning service. Inferential statistics indicated that there was a significant gap between the client expectations of family planning service delivery and the extent to which these expectations were met. Of the sixty-four items where women indicated the extent of their expectations the findings on only three items were not statistically significant. These gaps were addressed by proposing managerial guidelines to be implemented by the nurse manager in charge of the facility, on which this article will focus. Validity and reliability principles were ensured in the study. Ethical principles were adhered to during the research process.

  16. Clinical and genetic aspects of Marfan syndrome and familial thoracic aortic aneurysms and dissections

    NARCIS (Netherlands)

    Hilhorst-Hofstee, Yvonne

    2013-01-01

    This thesis concerns the clinical and genetic aspects of familial thoracic aortic aneurysms and dissections, in particular in Marfan syndrome. It includes the Dutch multidisciplinary guidelines for diagnosis and management of Marfan syndrome. These guidelines contain practical directions for

  17. Large observer variation of clinical assessment of dyspnoeic wheezing children.

    Science.gov (United States)

    Bekhof, Jolita; Reimink, Roelien; Bartels, Ine-Marije; Eggink, Hendriekje; Brand, Paul L P

    2015-07-01

    In children with acute dyspnoea, the assessment of severity of dyspnoea and response to treatment is often performed by different professionals, implying that knowledge of the interobserver variation of this clinical assessment is important. To determine intraobserver and interobserver variation in clinical assessment of children with dyspnoea. From September 2009 to September 2010, we recorded a convenience sample of 27 acutely wheezing children (aged 3 months-7 years) in the emergency department of a general teaching hospital in the Netherlands, on video before and after treatment with inhaled bronchodilators. These video recordings were independently assessed by nine observers scoring wheeze, prolonged expiratory phase, retractions, nasal flaring and a general assessment of dyspnoea on a Likert scale (0-10). Assessment was repeated after 2 weeks to evaluate intraobserver variation. We analysed 972 observations. Intraobserver reliability was the highest for supraclavicular retractions (κ 0.84) and moderate-to-substantial for other items (κ 0.49-0.65). Interobserver reliability was considerably worse, with κ3 points) was larger than the minimal important change (meaning that in 69% of observations a clinically important change after treatment cannot be distinguished from measurement error. Intraobserver variation is modest, and interobserver variation is large for most clinical findings in children with dyspnoea. The measurement error induced by this variation is too large to distinguish potentially clinically relevant changes in dyspnoea after treatment in two-thirds of observations. The poor interobserver reliability of clinical dyspnoea assessment in children limits its usefulness in clinical practice and research, and highlights the need to use more objective measurements in these patients. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  18. Clinical correlates and genetic linkage of social and communication difficulties in families with obsessive-compulsive disorder: Results from the OCD Collaborative Genetics Study.

    Science.gov (United States)

    Samuels, Jack; Shugart, Yin Yao; Wang, Ying; Grados, Marco A; Bienvenu, O Joseph; Pinto, Anthony; Rauch, Scott L; Greenberg, Benjamin D; Knowles, James A; Fyer, Abby J; Piacentini, John; Pauls, David L; Cullen, Bernadette; Rasmussen, Steven A; Stewart, S Evelyn; Geller, Dan A; Maher, Brion S; Goes, Fernando S; Murphy, Dennis L; McCracken, James T; Riddle, Mark A; Nestadt, Gerald

    2014-06-01

    Some individuals with obsessive-compulsive disorder (OCD) have autistic-like traits, including deficits in social and communication behaviors (pragmatics). The objective of this study was to determine if pragmatic impairment aggregates in OCD families and discriminates a clinically and genetically distinct subtype of OCD. We conducted clinical examinations on, and collected DNA samples from, 706 individuals with OCD in 221 multiply affected OCD families. Using the Pragmatic Rating Scale (PRS), we compared the prevalence of pragmatic impairment in OCD-affected relatives of probands with and without pragmatic impairment. We also compared clinical features of OCD-affected individuals in families having at least one, versus no, individual with pragmatic impairment, and assessed for linkage to OCD in the two groups of families. The odds of pragmatic impairment were substantially greater in OCD-affected relatives of probands with pragmatic impairment. Individuals in high-PRS families had greater odds of separation anxiety disorder and social phobia, and a greater number of schizotypal personality traits. In high-PRS families, there was suggestive linkage to OCD on chromosome 12 at marker D12S1064 and on chromosome X at marker DXS7132 whereas, in low-PRS families, there was suggestive linkage to chromosome 3 at marker D3S2398. Pragmatic impairment aggregates in OCD families. Separation anxiety disorder, social phobia, and schizotypal personality traits are part of a clinical spectrum associated with pragmatic impairment in these families. Specific regions of chromosomes 12 and X are linked to OCD in high-PRS families. Thus, pragmatic impairment may distinguish a clinically and genetically homogeneous subtype of OCD. © 2014 Wiley Periodicals, Inc.

  19. An audit of clinical service examining the uptake of genetic testing by at-risk family members.

    Science.gov (United States)

    Forrest, Laura; Delatycki, Martin; Curnow, Lisette; Gen Couns, M; Skene, Loane; Aitken, Maryanne

    2012-01-01

    The aim of this study was to investigate the uptake of genetic testing by at-risk family members for four genetic conditions: chromosomal translocations, fragile X syndrome, Huntington disease, and spinal muscular atrophy. A clinical audit was undertaken using genetics files from Genetic Health Services Victoria. Data were extracted from the files regarding the number of at-risk family members and the proportion tested. Information was also collected about whether discussion of at-risk family members and family communication during the genetic consultation was recorded. The proportion of at-risk family members who had genetic testing ranged from 11% to 18%. First-degree family members were most frequently tested and the proportion of testing decreased by degree of relatedness to the proband. Smaller families were significantly more likely to have genetic testing for all conditions except Huntington disease. Female at-risk family members were significantly more likely to have testing for fragile X syndrome. The majority of at-risk family members do not have genetic testing. Family communication is likely to influence the uptake of genetic testing by at-risk family members and therefore it is important that families are supported while communicating to ensure that at-risk family members are able to make informed decisions about genetic testing.

  20. A large family of antivirulence regulators modulates the effects of transcriptional activators in Gram-negative pathogenic bacteria.

    Directory of Open Access Journals (Sweden)

    Araceli E Santiago

    2014-05-01

    Full Text Available We have reported that transcription of a hypothetical small open reading frame (orf60 in enteroaggregative E. coli (EAEC strain 042 is impaired after mutation of aggR, which encodes a global virulence activator. We have also reported that the cryptic orf60 locus was linked to protection against EAEC diarrhea in two epidemiologic studies. Here, we report that the orf60 product acts as a negative regulator of aggR itself. The orf60 protein product lacks homology to known repressors, but displays 44-100% similarity to at least fifty previously undescribed small (<10 kDa hypothetical proteins found in many gram negative pathogen genomes. Expression of orf60 homologs from enterotoxigenic E. coli (ETEC repressed the expression of the AraC-transcriptional ETEC regulator CfaD/Rns and its regulon in ETEC strain H10407. Complementation in trans of EAEC 042orf60 by orf60 homologs from ETEC and the mouse pathogen Citrobacter rodentium resulted in dramatic suppression of aggR. A C. rodentium orf60 homolog mutant showed increased levels of activator RegA and increased colonization of the adult mouse. We propose the name Aar (AggR-activated regulator for the clinically and epidemiologically important orf60 product in EAEC, and postulate the existence of a large family of homologs among pathogenic Enterobacteriaceae and Pasteurellaceae. We propose the name ANR (AraC Negative Regulators for this family.

  1. APC promoter 1B deletion in seven American families with familial adenomatous polyposis.

    Science.gov (United States)

    Snow, A K; Tuohy, T M F; Sargent, N R; Smith, L J; Burt, R W; Neklason, D W

    2015-10-01

    Familial adenomatous polyposis (FAP) is a colorectal cancer predisposition syndrome caused by mutations in the adenomatous polyposis coli (APC) gene. Clinical genetic testing fails to identify disease causing mutations in up to 20% of clinically apparent FAP cases. Following the inclusion of multiplex ligation-dependent probe amplification (MLPA) probes specific for APC promoter 1B, seven probands were identified with a deletion of promoter 1B. Using haplotype analysis spanning the APC locus, the seven families appear to be identical by descent from a common founder. The clinical phenotype of 19 mutation carriers is classical FAP with colectomy at an average age of 24. The majority of cases had a large number of duodenal and gastric polyps. Measurements of allele-specific expression of APC mRNA using TaqMan assay confirmed that relative expression in the allele containing the promoter 1B deletion was reduced 42-98%, depending on tissue type. This study confirms the importance of APC promoter deletions as a cause of FAP and identifies a founder mutation in FAP patients from the United States. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  2. Influences on clinical reasoning in family and psychosocial interventions in nursing practice with patients and their families living with chronic kidney disease.

    Science.gov (United States)

    Thirsk, Lorraine M; Moore, Sarah G; Keyko, Kacey

    2014-09-01

    To explore how Registered Nurses address psychosocial issues for patients and their families living with chronic kidney disease. It is in the scope of registered nursing practice to address the emotional, psychological and relational implications of living with chronic disease through psychosocial and family interventions. Patients living with chronic kidney disease frequently report poor quality of life and numerous psychosocial issues; however, they do not find that these issues are always adequately addressed. This research was hermeneutic inquiry as guided by Gadamer's philosophy of understanding. Family/psychosocial nursing practices are examined from the perspective of self-reports of Registered Nurses working in acute care nephrology units. Interviews with nurses were conducted throughout 2012. Nurses attribute, or explain, patient and family member behaviour in a variety of ways. These explanations may or may not align with actual patient/family reasons for behaviour. Nurses' explanations influence subsequent nursing practice. While there is some evidence of practices that overcome biased attributions of patient behaviour, the cognitive processes by which nurses develop these explanations are more complex than previously reported in nursing literature. Clinical reasoning and subsequent nursing practice are influenced by how nurses explain patients'/families' behaviour. Exploration of this issue with the support of social cognition literature suggests a need for further research with significant implications for nursing education and practice to improve family/psychosocial interventions. © 2014 John Wiley & Sons Ltd.

  3. [Familial Mediterranean fever - clinical picture, diagnosis and treatment].

    Science.gov (United States)

    Dallos, Tomáš; Ilenčíková, Denisa; Kovács, László

    2014-01-01

    Familial mediterranean fever (FMF) is the most prevalent genetically determined autoinflammatory disease. FMF significantly decreases the quality of life and limits life expectancy due to the development of amyloidosis in affected individuals. Prevalence of FMF is highest in the south-eastern Mediterraneans. In other parts of the world, its occurance is often restricted to high-risk ethnic goups. In Central Europe, experience with FMF is scarse. As for Slovakia, we have reported the first cases of FMF in ethnic Slovaks only recently. Along with their complicated fates, this has lead us to compile a comprehensive overview of the clinical picture, diagnosis and treatment of this elusive disease. Hereby we hope to be able to promote the awareness about this disease and possibly aid the diagnosis in new patients.

  4. Making Dreams, Not Babies: The Power of Hope in a Teen Family Planning Clinic.

    Science.gov (United States)

    Raines, Kimberly

    2018-04-01

    Teenage pregnancy is a signifi cant social issue in the United States, resulting in increased levels of poverty. Most public health family planning efforts have traditionally focused on teaching teens the how-to of contraception, with little focus on teaching the why-to. During my time as a nurse practitioner in a public health department family planning clinic, I developed a method to open discussions with patients about the possibilities of a future that includes delayed childbearing. My experience with this strategy taught me that hope may indeed be the most powerful contraceptive of all.

  5. Making dreams, not babies: the power of hope in a teen family planning clinic.

    Science.gov (United States)

    Raines, Kimberly

    2009-01-01

    Teenage pregnancy is a significant social issue in the United States, resulting in increased levels of poverty. Most public health family planning efforts have traditionally focused on teaching teens the how-to of contraception, with little focus on teaching the why-to. During my time as a nurse practitioner in a public health department family planning clinic, I developed a method to open discussions with patients about the possibilities of a future that includes delayed childbearing. My experience with this strategy taught me that hope may indeed be the most powerful contraceptive of all.

  6. Using 'WeChat' online social networking in a real-world needs analysis of family members of youths at clinical high risk of psychosis.

    Science.gov (United States)

    Zhang, TianHong; Xu, LiHua; Tang, YingYing; Cui, HuiRu; Li, HuiJun; Wei, YanYan; Xu, YangYang; Jiang, LiJuan; Zhu, YiKang; Li, ChunBo; Jiang, KaiDa; Xiao, ZePing; Wang, JiJun

    2018-04-01

    The argument surrounding the safety and effectiveness of interventions for the population of individuals at a clinical high risk of developing psychosis has been ongoing for the past 30 years. However, few studies have assessed the needs of this special young population, who are struggling with the recent onset of psychotic symptoms. The sample consisted of 171 family members of 108 clinical high-risk individuals included from the ShangHai at Risk for Psychosis research programme. A 'WeChat' group was established to provide mutual support. There were 22,007 valid messages sent within the group between 1 April 2015 and 27 June 2016. Chat records were subsequently analysed to determine the needs of families during intervention at the early stages of psychosis. Families of clinical high-risk individuals were highly involved in the entire medical process, and the major concerns of the families of clinical high-risk individuals focused on both functional recovery and medication. The themes of 'take medication', 'go to school' and 'study in school' were often discussed within the group. A family-focused intervention targeting functional recovery and real-time professional explanations of medication would meet the major needs of families of Chinese clinical high-risk individuals.

  7. Positive Family Intervention for Severe Challenging Behavior I: A Multisite Randomized Clinical Trial

    Science.gov (United States)

    Durand, V. Mark; Hieneman, Meme; Clarke, Shelley; Wang, Mo; Rinaldi, Melissa L.

    2013-01-01

    The present study was a multisite randomized clinical trial assessing the effects of adding a cognitive-behavioral intervention to positive behavior support (PBS). Fifty-four families who met the criteria of (a) having a child with a developmental disability, (b) whose child displayed serious challenging behavior (e.g., aggression, self-injury,…

  8. Family physicians clinical aptitude for the nutritional management of type 2 diabetes mellitus in Guadalajara, Mexico.

    Science.gov (United States)

    Cabrera Pivaral, C E; Gutiérrez Roman, E A; Gonzalez Pérez, G; Gonzalez Reyes, F; Valadez Toscano, F; Gutiérrez Ruvalcaba, C; Rios Riebeling, C D

    2008-02-01

    There are 180,000 new Diabetes Mellitus cases in Mexico each year (1). This chronic, complex and multifactor disease requires an adequate nutritional management plan to be prescribed by family physicians. They should be trained to identify the potential difficulties in the patient's dietary schedule and orientate their management from an integrative point of view. The purpose of this study was to detect and measure family physician's clinical aptitudes for the nutritional management of Type 2 diabetes, in a representative family physician's sample from five Family Medicine Units of the Mexican Institute of Social Security in Guadalajara, Jalisco, Mexico. A structured and validated instrument was applied to 117 physicians from a total of 450 in Guadalajara, Jalisco. The main study variable was clinical aptitude for nutritional management of Type 2 diabetes. Aptitude levels were defined by an ordinal scale and related to the other variables using the median, Mann-Whitney's U test and Kruskal Wallis (KW) test. Global results showed a median of 30 points that relates to a low and a very low aptitude level for the 72% of physicians without statistical significance (KW: p>0.05) with the rest of variables. These results reflect family physician's difficulties to orientate the nutritional management of Type 2 diabetes, as well as the lack of work environments that facilitate case reflection and formative educational strategies.

  9. Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study.

    Science.gov (United States)

    Rivera, B; González, S; Sánchez-Tomé, E; Blanco, I; Mercadillo, F; Letón, R; Benítez, J; Robledo, M; Capellá, G; Urioste, M

    2011-04-01

    Classical familial adenomatous polyposis (FAP) is characterized by the appearance of >100 colorectal adenomas. We screened the APC and MUTYH genes for mutations and evaluated the genotype-phenotype correlation in 136 Spanish classical FAP families. APC/MUTYH mutations were detected in 107 families. Sixty-four distinct APC point mutations were detected in 95 families of which all were truncating mutations. A significant proportion (39.6%) had not been previously reported. Mutations were spread over the entire coding region and great rearrangements were identified in six families. Another six families exhibited biallelic MUTYH mutations. No APC or MUTYH mutations were detected in 29 families. These APC/MUTYH-negative families showed clinical differences with the APC-positive families. A poor correlation between phenotype and mutation site was observed. Our results highlight that a broad approach in the genetic study must be considered for classical FAP due to involvement of both APC and MUTYH and the heterogeneous spectrum of APC mutations observed in this Spanish population. The scarcely consistent genotype-phenotype correlation does not allow making specific recommendations regarding screening and management. Differences observed in APC/MUTYH-negative families may reflect a genetic basis other than mutations in APC and MUTYH genes for FAP predisposition. © The Author 2010. Published by Oxford University Press on behalf of the European Society for Medical Oncology.

  10. Contribution of family social support to the metabolic control of people with diabetes mellitus: A randomized controlled clinical trial.

    Science.gov (United States)

    Gomes, Lilian Cristiane; Coelho, Anna Claudia Martins; Gomides, Danielle Dos Santos; Foss-Freitas, Maria Cristina; Foss, Milton César; Pace, Ana Emilia

    2017-08-01

    This randomized controlled clinical trial aimed to evaluate the contribution of family social support to the clinical/metabolic control of people with type 2 diabetes mellitus. Diabetes mellitus is a chronic disease that requires continuous care in order for individuals to reach glycemic control, the primordial goal of treatment. Family social support is essential to the development of care skills and their maintenance. However, there are few studies that investigate the contribution of family social support to diabetes control. The study was developed between June 2011 and May 2013, and included 164 people who were randomized using simple randomization. The intervention group differed from the control group in that it included a family caregiver, who was recognized by the patient as a source of social support. The educational interventions received by people with diabetes mellitus were used as the basis of the education provided through telephone calls to patients' family members and caregivers, and their purpose was to encourage dialogue between the patients and their relatives about the topics related to diabetes. Regarding the clinical impact, the results showed that there was a greater reduction in blood pressure and glycated hemoglobin in the intervention group than in the control group, showing a positive effect on the control of the disease. Families should be incorporated into the care of people with diabetes mellitus and especially in health care programs, in particular those that can promote different forms of social support to strengthen the bond between family members. Copyright © 2017 Elsevier Inc. All rights reserved.

  11. Large family of quantum weak coin-flipping protocols

    International Nuclear Information System (INIS)

    Mochon, Carlos

    2005-01-01

    Each classical public-coin protocol for coin flipping is naturally associated with a quantum protocol for weak coin flipping. The quantum protocol is obtained by replacing classical randomness with quantum entanglement and by adding a cheat detection test in the last round that verifies the integrity of this entanglement. The set of such protocols defines a family which contains the protocol with bias 0.192 previously found by the author, as well as protocols with bias as low as 1/6 described herein. The family is analyzed by identifying a set of optimal protocols for every number of messages. In the end, tight lower bounds for the bias are obtained which prove that 1/6 is optimal for all protocols within the family

  12. Identification of rare recurrent copy number variants in high-risk autism families and their prevalence in a large ASD population.

    Directory of Open Access Journals (Sweden)

    Nori Matsunami

    Full Text Available Structural variation is thought to play a major etiological role in the development of autism spectrum disorders (ASDs, and numerous studies documenting the relevance of copy number variants (CNVs in ASD have been published since 2006. To determine if large ASD families harbor high-impact CNVs that may have broader impact in the general ASD population, we used the Affymetrix genome-wide human SNP array 6.0 to identify 153 putative autism-specific CNVs present in 55 individuals with ASD from 9 multiplex ASD pedigrees. To evaluate the actual prevalence of these CNVs as well as 185 CNVs reportedly associated with ASD from published studies many of which are insufficiently powered, we designed a custom Illumina array and used it to interrogate these CNVs in 3,000 ASD cases and 6,000 controls. Additional single nucleotide variants (SNVs on the array identified 25 CNVs that we did not detect in our family studies at the standard SNP array resolution. After molecular validation, our results demonstrated that 15 CNVs identified in high-risk ASD families also were found in two or more ASD cases with odds ratios greater than 2.0, strengthening their support as ASD risk variants. In addition, of the 25 CNVs identified using SNV probes on our custom array, 9 also had odds ratios greater than 2.0, suggesting that these CNVs also are ASD risk variants. Eighteen of the validated CNVs have not been reported previously in individuals with ASD and three have only been observed once. Finally, we confirmed the association of 31 of 185 published ASD-associated CNVs in our dataset with odds ratios greater than 2.0, suggesting they may be of clinical relevance in the evaluation of children with ASDs. Taken together, these data provide strong support for the existence and application of high-impact CNVs in the clinical genetic evaluation of children with ASD.

  13. Nontraditional family romance.

    Science.gov (United States)

    Corbett, K

    2001-07-01

    Family stories lie at the heart of psychoanalytic developmental theory and psychoanalytic clinical technique, but whose family? Increasingly, lesbian and gay families, multiparent families, and single-parent families are relying on modern reproductive technologies to form families. The contemplation of these nontraditional families and the vicissitudes of contemporary reproduction lead to an unknowing of what families are, including the ways in which psychoanalysts configure the family within developmental theory. This article focuses on the stories that families tell in order to account for their formation--stories that include narratives about parental union, parental sexuality, and conception. The author addresses three constructs that inform family stories and that require rethinking in light of the category crises posed by and for the nontraditional family: (1) normative logic, (2) family reverie and the construction of a family romance, and (3) the primal scene. These constructs are examined in tandem with detailed clinical material taken from the psychotherapy of a seven-year-old boy and his two mothers.

  14. Expectations of clinical teachers and faculty regarding development of the CanMEDS-Family Medicine competencies: Laval developmental benchmarks scale for family medicine residency training.

    Science.gov (United States)

    Lacasse, Miriam; Théorêt, Johanne; Tessier, Sylvie; Arsenault, Louise

    2014-01-01

    The CanMEDS-Family Medicine (CanMEDS-FM) framework defines the expected terminal enabling competencies (EC) for family medicine (FM) residency training in Canada. However, benchmarks throughout the 2-year program are not yet defined. This study aimed to identify expected time frames for achievement of the CanMEDS-FM competencies during FM residency training and create a developmental benchmarks scale for family medicine residency training. This 2011-2012 study followed a Delphi methodology. Selected faculty and clinical teachers identified, via questionnaire, the expected time of EC achievement from beginning of residency to one year in practice (0, 6, 12, […] 36 months). The 15-85th percentile intervals became the expected competency achievement interval. Content validity of the obtained benchmarks was assessed through a second Delphi round. The 1st and 2nd rounds were completed by 33 and 27 respondents, respectively. A developmental benchmarks scale was designed after the 1st round to illustrate expectations regarding achievement of each EC. The 2nd round (content validation) led to minor adjustments (1.9±2.7 months) of intervals for 44 of the 92 competencies, the others remaining unchanged. The Laval Developmental Benchmarks Scale for Family Medicine clarifies expectations regarding achievement of competencies throughout FM training. In a competency-based education system this now allows identification and management of outlying residents, both those excelling and needing remediation. Further research should focus on assessment of the scale reliability after pilot implementation in family medicine clinical teaching units at Laval University, and corroborate the established timeline in other sites.

  15. Several Families of Sequences with Low Correlation and Large Linear Span

    Science.gov (United States)

    Zeng, Fanxin; Zhang, Zhenyu

    In DS-CDMA systems and DS-UWB radios, low correlation of spreading sequences can greatly help to minimize multiple access interference (MAI) and large linear span of spreading sequences can reduce their predictability. In this letter, new sequence sets with low correlation and large linear span are proposed. Based on the construction Trm1[Trnm(αbt+γiαdt)]r for generating p-ary sequences of period pn-1, where n=2m, d=upm±v, b=u±v, γi∈GF(pn), and p is an arbitrary prime number, several methods to choose the parameter d are provided. The obtained sequences with family size pn are of four-valued, five-valued, six-valued or seven-valued correlation and the maximum nontrivial correlation value is (u+v-1)pm-1. The simulation by a computer shows that the linear span of the new sequences is larger than that of the sequences with Niho-type and Welch-type decimations, and similar to that of [10].

  16. Clinic Attendance for Antiretroviral Pills Pick-Up among HIV-Positive People in Nepal: Roles of Perceived Family Support and Associated Factors.

    Science.gov (United States)

    Ayer, Rakesh; Kikuchi, Kimiyo; Ghimire, Mamata; Shibanuma, Akira; Pant, Madhab Raj; Poudel, Krishna C; Jimba, Masamine

    2016-01-01

    HIV-positive people's clinic attendance for medication pick-up is critical for successful HIV treatment. However, limited evidence exists on it especially in low-income settings such as Nepal. Moreover, the role of family support in clinic attendance remains under-explored. Therefore, this study was conducted to examine the association between perceived family support and regular clinic attendance and to assess factors associated with regular clinic attendance for antiretroviral pills pick-up among HIV-positive individuals in Nepal. A cross-sectional study was conducted among 423 HIV-positive people in three districts of Nepal. Clinic attendance was assessed retrospectively for the period of 12 months. To assess the factors associated, an interview survey was conducted using a semi-structured questionnaire from July to August, 2015. Multiple logistic regression models were used to assess the factors associated with regular clinic attendance. Of 423 HIV-positive people, only 32.6% attended the clinics regularly. They were more likely to attend them regularly when they received high family support (AOR = 3.98, 95% CI = 2.29, 6.92), participated in support programs (AOR = 1.68, 95% CI = 1.00, 2.82), and had knowledge on the benefits of antiretroviral therapy (AOR = 2.62, 95% CI = 1.15, 5.99). In contrast, they were less likely to attend them regularly when they commuted more than 60 minutes to the clinics (AOR = 0.53, 95% CI = 0.30, 0.93), when they self-rated their health status as being very good (AOR = 0.13, 95% CI = 0.04, 0.44), good (AOR = 0.14, 95% CI = 0.04, 0.46), and fair (AOR = 0.21, 95% CI = 0.06, 0.70). HIV-positive individuals are more likely to attend the clinics regularly when they receive high family support, know the benefits of antiretroviral therapy, and participate in support programs. To improve clinic attendance, family support should be incorporated with HIV care programs in resource limited settings. Service providers should also consider

  17. Clinic Attendance for Antiretroviral Pills Pick-Up among HIV-Positive People in Nepal: Roles of Perceived Family Support and Associated Factors

    Science.gov (United States)

    Kikuchi, Kimiyo; Ghimire, Mamata; Shibanuma, Akira; Pant, Madhab Raj; Poudel, Krishna C.; Jimba, Masamine

    2016-01-01

    Introduction HIV-positive people’s clinic attendance for medication pick-up is critical for successful HIV treatment. However, limited evidence exists on it especially in low-income settings such as Nepal. Moreover, the role of family support in clinic attendance remains under-explored. Therefore, this study was conducted to examine the association between perceived family support and regular clinic attendance and to assess factors associated with regular clinic attendance for antiretroviral pills pick-up among HIV-positive individuals in Nepal. Methods A cross-sectional study was conducted among 423 HIV-positive people in three districts of Nepal. Clinic attendance was assessed retrospectively for the period of 12 months. To assess the factors associated, an interview survey was conducted using a semi-structured questionnaire from July to August, 2015. Multiple logistic regression models were used to assess the factors associated with regular clinic attendance. Results Of 423 HIV-positive people, only 32.6% attended the clinics regularly. They were more likely to attend them regularly when they received high family support (AOR = 3.98, 95% CI = 2.29, 6.92), participated in support programs (AOR = 1.68, 95% CI = 1.00, 2.82), and had knowledge on the benefits of antiretroviral therapy (AOR = 2.62, 95% CI = 1.15, 5.99). In contrast, they were less likely to attend them regularly when they commuted more than 60 minutes to the clinics (AOR = 0.53, 95% CI = 0.30, 0.93), when they self-rated their health status as being very good (AOR = 0.13, 95% CI = 0.04, 0.44), good (AOR = 0.14, 95% CI = 0.04, 0.46), and fair (AOR = 0.21, 95% CI = 0.06, 0.70). Conclusion HIV-positive individuals are more likely to attend the clinics regularly when they receive high family support, know the benefits of antiretroviral therapy, and participate in support programs. To improve clinic attendance, family support should be incorporated with HIV care programs in resource limited settings

  18. The Role of Family in Family Firms

    OpenAIRE

    Marianne Bertrand; Antoinette Schoar

    2006-01-01

    History is replete with examples of spectacular ascents of family businesses. Yet there are also numerous accounts of family businesses brought down by bitter feuds among family members, disappointed expectations between generations, and tragic sagas of later generations unable to manage their wealth. A large fraction of businesses throughout the world are organized around families. Why are family firms so prevalent? What are the implications of family control for the governance, financing an...

  19. Whole-Exome Sequencing Reveals Clinically Relevant Variants in Family Affected with Autism Spectrum Disorder

    Directory of Open Access Journals (Sweden)

    Jiaxiu Zhou

    2016-10-01

    Full Text Available Chromosomal microarray (CMA has been suggested as a first tier clinical diagnostic test for ASD. High-throughput sequencing (HTS has associated hundreds of genes associated with ASD. Whole Exome Sequencing (WES was used in combination with CMA to identify clinically-relevant ASD variants. In prior work, a trio-based (father, mother, and proband WGS (Whole Genome Sequencing was used to reveal clinically-relevant de novo, or inherited, rare variants in half (16 / 32 of the ASD families in which all probands had normal, or VOUS (Variant of Uncertain Clinical Significance, CMA results. In this study, after CMA screening chromosome structural abnormalities of a proband affected with ASD, a WES was performed on the patient and parents. Some rare de novo, and inherited, variants were detected using trio-based bioinformatics analysis. ASD variants were ranked by SFARI Gene score, HPO (human phenotype ontology, protein function damage, and manual searching PubMed. Sanger sequencing was used to validated some candidate variants in family members. A de novo homozygous mutation in SPG11 (p.C209F, two inherited, compound-heterozygote mutations in SCN9A (p.Q10R and p.R1893H and BEST1 (p.A135V and p.A297V were confirmed. Heterozygous mutations in TSC1 (p.S487C and SHANK2 (p.Arg569His inherited from mother were also confirmed.

  20. Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber's hereditary optic neuropathy

    International Nuclear Information System (INIS)

    Qian Yaping; Zhou Xiangtian; Hu Yongwu; Tong Yi; Li Ronghua; Lu Fan; Yang Huanming; Mo Junqin; Qu Jia; Guan Minxin

    2005-01-01

    We report here the clinical, genetic, and molecular characterization of three Chinese families (WZ4, WZ5, and WZ6) with Leber's hereditary optic neuropathy (LHON). Clinical and genetic evaluations revealed the variable severity and age-of-onset in visual impairment in these families. Penetrances of visual impairment in these Chinese families were 33.3%, 35.7%, and 35.5%, respectively, with an average 34.8%. Furthermore, the average age-at-onset in those Chinese families was 17, 20, and 18 years. In addition, the ratios between affected male and female matrilineal relatives in these Chinese families were 3:0, 1:1, and 1.2:1, respectively. Sequence analysis of the complete mitochondrial genomes in these pedigrees showed the distinct sets of mtDNA polymorphism, in addition to the identical G11778A mutation associated with LHON in many families. The fact that mtDNA of those pedigrees belonged to different haplogroups F1, D4, and M10 suggested that the G11778A mutation occurred sporadically and multiplied through evolution of the mtDNA in China. However, there was the absence of functionally significant mutations in tRNA and rRNAs or secondary LHON mutations in these Chinese families. The I187T mutation in the ND1, the S99A mutation in the A6, the V254I in CO3, and I58V in ND6 mutation, showing high evolutional conservation, may contribute to the phenotypic expression of the G11778A mutation in the WZ6 pedigree. By contrast, none of mtDNA variants are evolutionarily conserved and implicated to have significantly functional consequence in WZ4 and WZ5 pedigrees. Apparently, these variants do not have a potential modifying role in the development of visual impairment associated with G11778A mutation in those two families. Thus, nuclear modifier gene(s) or environmental factor(s) seem to account for the penetrance and expressivity of LHON in these three Chinese families carrying the G11778A mutation

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

    Science.gov (United States)

    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.

  2. Autosomal dominant hereditary sensory neuropathy with chronic cough and gastro-oesophageal reflux: clinical features in two families linked to chromosome 3p22-p24.

    Science.gov (United States)

    Spring, Penelope J; Kok, Cindy; Nicholson, Garth A; Ing, Alvin J; Spies, Judith M; Bassett, Mark L; Cameron, John; Kerlin, Paul; Bowler, Simon; Tuck, Roger; Pollard, John D

    2005-12-01

    Autosomal dominant hereditary sensory neuropathy (HSN I) is a clinically and genetically heterogeneous group of disorders, and in some families it is due to mutations in the serine palmitoyltransferase (SPTLC1) gene. We have characterized two families with HSN I associated with cough and gastro-oesophageal reflux (GOR). From a large Australian family, 27 individuals and from a smaller family, 11 individuals provided clinical information and blood for genetic analysis. Affected individuals had an adult onset of paroxysmal cough, GOR and distal sensory loss. Cough could be triggered by noxious odours or by pressure in the external auditory canal (Arnold's ear-cough reflex). Other features included throat clearing, hoarse voice, cough syncope and sensorineural hearing loss. Neurophysiological and pathological studies demonstrated a sensory axonal neuropathy. Gastric emptying studies were normal, and autonomic function and sweat tests were either normal or showed distal hypohidrosis. Cough was likely to be due to a combination of denervation hypersensitivity of the upper airways and oesophagus, and prominent GOR. Most affected individuals were shown on 24 h ambulatory oesophageal pH monitoring to have multiple episodes of GOR, closely temporally associated with coughing. Hoarse voice was probably attributable to acid-induced laryngeal damage, and there was no evidence of vocal cord palsy. No other cause for cough was found on most respiratory or otorhinological studies. Linkage to chromosome 3p22-p24 has been found in both families, with no evidence of linkage to loci for known HSN I, autosomal dominant hereditary motor and sensory neuropathy, hereditary GOR or triple A syndrome. These families represent a genetically novel variant of HSN I, with a distinctive cough owing to involvement of the upper aerodigestive tract.

  3. Financial Management of a Large Multi-site Randomized Clinical Trial

    Science.gov (United States)

    Sheffet, Alice J.; Flaxman, Linda; Tom, MeeLee; Hughes, Susan E.; Longbottom, Mary E.; Howard, Virginia J.; Marler, John R.; Brott, Thomas G.

    2014-01-01

    Background The Carotid Revascularization Endarterectomy versus Stenting Trial (CREST) received five years’ funding ($21,112,866) from the National Institutes of Health to compare carotid stenting to surgery for stroke prevention in 2,500 randomized participants at 40 sites. Aims Herein we evaluate the change in the CREST budget from a fixed to variable-cost model and recommend strategies for the financial management of large-scale clinical trials. Methods Projections of the original grant’s fixed-cost model were compared to the actual costs of the revised variable-cost model. The original grant’s fixed-cost budget included salaries, fringe benefits, and other direct and indirect costs. For the variable-cost model, the costs were actual payments to the clinical sites and core centers based upon actual trial enrollment. We compared annual direct and indirect costs and per-patient cost for both the fixed and variable models. Differences between clinical site and core center expenditures were also calculated. Results Using a variable-cost budget for clinical sites, funding was extended by no-cost extension from five to eight years. Randomizing sites tripled from 34 to 109. Of the 2,500 targeted sample size, 138 (5.5%) were randomized during the first five years and 1,387 (55.5%) during the no-cost extension. The actual per-patient costs of the variable model were 9% ($13,845) of the projected per-patient costs ($152,992) of the fixed model. Conclusions Performance-based budgets conserve funding, promote compliance, and allow for additional sites at modest additional cost. Costs of large-scale clinical trials can thus be reduced through effective management without compromising scientific integrity. PMID:24661748

  4. Genetic Linkage Analysis of the DFNB21 Locus in Autosomal Recessive Hearing Loss in Large Families from Khuzestan Province

    Directory of Open Access Journals (Sweden)

    Mahtab Khosrofar

    2017-06-01

    Full Text Available Abstract Background: Hearing loss (HL is the most common congenital defect in humans. One or two in thousand newborn babies have prelingual hearing loss. Autosomal recessive non-syndromic hearing loss (ARNSHL is the most common form of hereditary deafness. Hearing loss is more common in the developing countries which is due to genetic and environmental (cultural -health factors reasons. HL has a wide range of clinical demonstrations including: congenital or late onset, conductive or sensory-neural, syndromic or non-syndromic hearing loss. The goal of this project is to determine the portion of the DFNB21 (TECTA in ARNSHL in families with negative GJB2 gene in Khuzestan province. Materials and Methods: We studied 21 families with ARNSHL with at least 4 patients and negative for GJB2 mutations from Khuzestan province. Genetic linkage analysis was performed using STR markers linked to DFNB21 locus. Results: Following genetic linkage analysis and haplotyping, out of 21 families with ARNSHL, one family showed linkage to the DFNB21 (TECTA locus. Conclusion: The results of this project confirm other studies in Iran and give insight into the most common loci causing ARNSHL in Iran which could be helpful in research and clinic.

  5. Screening for large genomic rearrangements in the FANCA gene reveals extensive deletion in a Finnish breast cancer family.

    Science.gov (United States)

    Solyom, Szilvia; Winqvist, Robert; Nikkilä, Jenni; Rapakko, Katrin; Hirvikoski, Pasi; Kokkonen, Hannaleena; Pylkäs, Katri

    2011-03-28

    A portion of familial breast cancer cases are caused by mutations in the same genes that are inactivated in the downstream part of Fanconi anemia (FA) signaling pathway. Here we have assessed the FANCA gene for breast cancer susceptibility by examining blood DNA for aberrations from 100 Northern Finnish breast cancer families using the MLPA method. We identified a novel heterozygous deletion, removing the promoter and 12 exons of the gene in one family. This allele was absent from 124 controls. We conclude that FANCA deletions might contribute to breast cancer susceptibility, potentially in combination with other germline mutations. To our knowledge, this is the first study reporting a large deletion in an upstream FA gene in familial breast cancer. Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.

  6. The economic impact and multiplier effect of a family practice clinic on an academic medical center.

    Science.gov (United States)

    Schneeweiss, R; Ellsbury, K; Hart, L G; Geyman, J P

    1989-07-21

    Academic medical centers are facing the need to expand their primary care referral base in an increasingly competitive medical environment. This study describes the medical care provided during a 1-year period to 6304 patients registered with a family practice clinic located in an academic medical center. The relative distribution of primary care, secondary referrals, inpatient admissions, and their associated costs are presented. The multiplier effect of the primary care clinic on the academic medical center was substantial. For every $1 billed for ambulatory primary care, there was $6.40 billed elsewhere in the system. Each full-time equivalent family physician generated a calculated sum of $784,752 in direct, billed charges for the hospital and $241,276 in professional fees for the other specialty consultants. The cost of supporting a primary care clinic is likely to be more than offset by the revenues generated from the use of hospital and referral services by patients who received care in the primary care setting.

  7. Amelogenesis Imperfecta: 1 Family, 2 Phenotypes, and 2 Mutated Genes.

    Science.gov (United States)

    Prasad, M K; Laouina, S; El Alloussi, M; Dollfus, H; Bloch-Zupan, A

    2016-12-01

    Amelogenesis imperfecta (AI) is a clinically and genetically heterogeneous group of diseases characterized by enamel defects. The authors have identified a large consanguineous Moroccan family segregating different clinical subtypes of hypoplastic and hypomineralized AI in different individuals within the family. Using targeted next-generation sequencing, the authors identified a novel heterozygous nonsense mutation in COL17A1 (c.1873C>T, p.R625*) segregating with hypoplastic AI and a novel homozygous 8-bp deletion in C4orf26 (c.39_46del, p.Cys14Glyfs*18) segregating with hypomineralized-hypoplastic AI in this family. This study highlights the phenotypic and genotypic heterogeneity of AI that can exist even within a single consanguineous family. Furthermore, the identification of novel mutations in COL17A1 and C4orf26 and their correlation with distinct AI phenotypes can contribute to a better understanding of the pathophysiology of AI and the contribution of these genes to amelogenesis. © International & American Associations for Dental Research 2016.

  8. The uses of emotion maps in research and clinical practice with families and couples: methodological innovation and critical inquiry.

    Science.gov (United States)

    Gabb, Jacqui; Singh, Reenee

    2015-03-01

    We explore how "emotion maps" can be productively used in clinical assessment and clinical practice with families and couples. This graphic participatory method was developed in sociological studies to examine everyday family relationships. Emotion maps enable us to effectively "see" the dynamic experience and emotional repertoires of family life. Through the use of a case example, in this article we illustrate how emotion maps can add to the systemic clinicians' repertoire of visual methods. For clinicians working with families, couples, and young people, the importance of gaining insight into how lives are lived, at home, cannot be understated. Producing emotion maps can encourage critical personal reflection and expedite change in family practice. Hot spots in the household become visualized, facilitating dialogue on prevailing issues and how these events may be perceived differently by different family members. As emotion maps are not reliant on literacy or language skills they can be equally completed by parents and children alike, enabling children's perspective to be heard. Emotion maps can be used as assessment tools, to demonstrate the process of change within families. Furthermore, emotion maps can be extended to use through technology and hence are well suited particularly to working with young people. We end the article with a wider discussion of the place of emotions and emotion maps within systemic psychotherapy. © 2014 The Authors. Family Process published by Wiley Periodicals, Inc. on behalf of Family Process Institute.

  9. Clinical Variability in a Family with an Ectodermal Dysplasia Syndrome and a Nonsense Mutation in the TP63 Gene.

    Science.gov (United States)

    Eisenkraft, Arik; Pode-Shakked, Ben; Goldstein, Nurit; Shpirer, Zvi; van Bokhoven, Hans; Anikster, Yair

    2015-01-01

    Mutations in the TP63 gene have been associated with a variety of ectodermal dysplasia syndromes, among which the clinically overlapping Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) and the Rapp-Hodgkin syndromes. We report a multiplex nonconsanguineous family of Ashkenazi-Jewish descent, in which the index patient presented with a persistent scalp skin lesion, dystrophic nails and light thin hair. Further evaluation revealed over 10 affected individuals in the kindred, over four generations, exhibiting varying degrees of ectodermal involvement. Analysis of the TP63 gene from four of the patients and from two healthy individuals of the same family was performed. Gene sequencing of the patients revealed a nonsense mutation leading to a premature termination codon (PTC) (p.Gln16X). The same mutation was found in all tested affected individuals in the family, but gave rise to marked phenotypic variability with minor clinical manifestations in some individuals, underscoring the clinical heterogeneity associated with the recently described PTC-causing mutations.

  10. [The clinical study of familial breast cancer - now and the problems].

    Science.gov (United States)

    Nomizu, Tadashi; Matsuzaki, Masami; Katagata, Naoto; Watanabe, Fumiaki; Akama, Yoshinori

    2012-04-01

    The clinical features of familial breast cancer are characterized by early onset, high frequency of bilateral breast cancer, and multiple malignancies of other organs. It is strongly suggested that genetic factors contribute to familial breast cancer. The causative genes now identified are BRCA1 and BRCA2. This disease is called hereditary breast ovarian cancer syndrome (HBOC)because breast cancer and ovarian cancer are clustered in the kindred confirmed BRCA mutation. As for BRCA related breast cancer, early onset and highly frequent bilateral breast cancer are characteristic. In addition, the histological grade is high and the positive rate of estrogen receptors is low in BRCA1-related breast cancer. Gene diagnosis of BRCA is useful when choosing a surgical method, chemotherapy, or a surveillance of mutation carriers. The problem in Japan is that the treatment is very expensive, with poor understanding of HBOC of by clinicians and as yet immature genetic counseling system.

  11. Limited accessibility to designs and results of Japanese large-scale clinical trials for cardiovascular diseases.

    Science.gov (United States)

    Sawata, Hiroshi; Ueshima, Kenji; Tsutani, Kiichiro

    2011-04-14

    Clinical evidence is important for improving the treatment of patients by health care providers. In the study of cardiovascular diseases, large-scale clinical trials involving thousands of participants are required to evaluate the risks of cardiac events and/or death. The problems encountered in conducting the Japanese Acute Myocardial Infarction Prospective (JAMP) study highlighted the difficulties involved in obtaining the financial and infrastructural resources necessary for conducting large-scale clinical trials. The objectives of the current study were: 1) to clarify the current funding and infrastructural environment surrounding large-scale clinical trials in cardiovascular and metabolic diseases in Japan, and 2) to find ways to improve the environment surrounding clinical trials in Japan more generally. We examined clinical trials examining cardiovascular diseases that evaluated true endpoints and involved 300 or more participants using Pub-Med, Ichushi (by the Japan Medical Abstracts Society, a non-profit organization), websites of related medical societies, the University Hospital Medical Information Network (UMIN) Clinical Trials Registry, and clinicaltrials.gov at three points in time: 30 November, 2004, 25 February, 2007 and 25 July, 2009. We found a total of 152 trials that met our criteria for 'large-scale clinical trials' examining cardiovascular diseases in Japan. Of these, 72.4% were randomized controlled trials (RCTs). Of 152 trials, 9.2% of the trials examined more than 10,000 participants, and 42.8% examined between 1,000 and 10,000 participants. The number of large-scale clinical trials markedly increased from 2001 to 2004, but suddenly decreased in 2007, then began to increase again. Ischemic heart disease (39.5%) was the most common target disease. Most of the larger-scale trials were funded by private organizations such as pharmaceutical companies. The designs and results of 13 trials were not disclosed. To improve the quality of clinical

  12. Limited accessibility to designs and results of Japanese large-scale clinical trials for cardiovascular diseases

    Directory of Open Access Journals (Sweden)

    Tsutani Kiichiro

    2011-04-01

    Full Text Available Abstract Background Clinical evidence is important for improving the treatment of patients by health care providers. In the study of cardiovascular diseases, large-scale clinical trials involving thousands of participants are required to evaluate the risks of cardiac events and/or death. The problems encountered in conducting the Japanese Acute Myocardial Infarction Prospective (JAMP study highlighted the difficulties involved in obtaining the financial and infrastructural resources necessary for conducting large-scale clinical trials. The objectives of the current study were: 1 to clarify the current funding and infrastructural environment surrounding large-scale clinical trials in cardiovascular and metabolic diseases in Japan, and 2 to find ways to improve the environment surrounding clinical trials in Japan more generally. Methods We examined clinical trials examining cardiovascular diseases that evaluated true endpoints and involved 300 or more participants using Pub-Med, Ichushi (by the Japan Medical Abstracts Society, a non-profit organization, websites of related medical societies, the University Hospital Medical Information Network (UMIN Clinical Trials Registry, and clinicaltrials.gov at three points in time: 30 November, 2004, 25 February, 2007 and 25 July, 2009. Results We found a total of 152 trials that met our criteria for 'large-scale clinical trials' examining cardiovascular diseases in Japan. Of these, 72.4% were randomized controlled trials (RCTs. Of 152 trials, 9.2% of the trials examined more than 10,000 participants, and 42.8% examined between 1,000 and 10,000 participants. The number of large-scale clinical trials markedly increased from 2001 to 2004, but suddenly decreased in 2007, then began to increase again. Ischemic heart disease (39.5% was the most common target disease. Most of the larger-scale trials were funded by private organizations such as pharmaceutical companies. The designs and results of 13 trials were not

  13. Reconstruction of Oomycete Genome Evolution Identifies Differences in Evolutionary Trajectories Leading to Present-Day Large Gene Families

    NARCIS (Netherlands)

    Seidl, M.F.; Ackerveken, van den G.; Govers, F.; Snel, B.

    2012-01-01

    The taxonomic class of oomycetes contains numerous pathogens of plants and animals but is related to nonpathogenic diatoms and brown algae. Oomycetes have flexible genomes comprising large gene families that play roles in pathogenicity. The evolutionary processes that shaped the gene content have

  14. 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.

  15. Training family physicians and residents in family medicine in shared decision making to improve clinical decisions regarding the use of antibiotics for acute respiratory infections: protocol for a clustered randomized controlled trial

    Directory of Open Access Journals (Sweden)

    Frémont Pierre

    2011-01-01

    Full Text Available Abstract Background To explore ways to reduce the overuse of antibiotics for acute respiratory infections (ARIs, we conducted a pilot clustered randomized controlled trial (RCT to evaluate DECISION+, a training program in shared decision making (SDM for family physicians (FPs. This pilot project demonstrated the feasibility of conducting a large clustered RCT and showed that DECISION+ reduced the proportion of patients who decided to use antibiotics immediately after consulting their physician. Consequently, the objective of this study is to evaluate, in patients consulting for ARIs, if exposure of physicians to a modified version of DECISION+, DECISION+2, would reduce the proportion of patients who decide to use antibiotics immediately after consulting their physician. Methods/design The study is a multi-center, two-arm, parallel clustered RCT. The 12 family practice teaching units (FPTUs in the network of the Department of Family Medicine and Emergency Medicine of Université Laval will be randomized to a DECISION+2 intervention group (experimental group or to a no-intervention control group. These FPTUs will recruit patients consulting family physicians and residents in family medicine enrolled in the study. There will be two data collection periods: pre-intervention (baseline including 175 patients with ARIs in each study arm, and post-intervention including 175 patients with ARIs in each study arm (total n = 700. The primary outcome will be the proportion of patients reporting a decision to use antibiotics immediately after consulting their physician. Secondary outcome measures include: 1 physicians and patients' decisional conflict; 2 the agreement between the parties' decisional conflict scores; and 3 perception of patients and physicians that SDM occurred. Also in patients, at 2 weeks follow-up, adherence to the decision, consultation for the same reason, decisional regret, and quality of life will be assessed. Finally, in both patients

  16. [The economic-financial sustainability of the Family Health Strategy in large municipalities].

    Science.gov (United States)

    Portela, Gustavo Zoio; Ribeiro, José Mendes

    2011-03-01

    The universalization of basic care and commitment budget of the Ministry of Health with the Family Health Strategy (ESF) through new systematic financing incentives have been highlighted in the Brazilian health policy scenario. One of the great problems observed is the expansion of the strategy for large urban centres. This paper studies the economic-financial sustainability of ESF in Brazilian municipalities of more than 100 thousand inhabitants according to some selected indicators, considering the geographical region to which they belong, their population size and participation in Project for the Expansion and Consolidation Family Health (Proesf). Municipalities belonging to the Southeast region, more developed of the country, have on average better economic-financial performance, but lower average values of coverage of ESF. Municipalities from the North and Northeast, with the lowest average for economic-financial sustainability indicators, were the ones that made more effort to developments in the period. Thus, we observed the dynamics between bigger fiscal capacity and budgetary commitment with the Health Sector for biggest municipalities and in more economically developed regions, and greater vulnerability and dependence of federative transferences for municipalities with less people, in less developed areas.

  17. [Prevalence and factors associated with frequent attendence in family medicine clinic].

    Science.gov (United States)

    Parejo Maestre, N; Lendínez-de la Cruz, J M; Bermúdez-Torres, F M; Gónzalez-Contero, L; Gutierrez-Espinosa de Los Monteros, M P; Espejo-Almazán María, T

    2016-01-01

    The use of health services has seen a steep rise. The frequent users are responsible for significant economic, human and social impact. The objective is to analyze the characteristics of frequent attenders in our Health Center, in order to evaluate the possibility of taking corrective measures to improve the quality of care and efficiency in the use of resources. Descriptive observational study of a sample of 379 patients over 18 years old. The dependent variables were attendance (number of visits to their family doctor during the previous year), frequent attendance (10 or more visits to the family doctor in the last year), and persistent frequent attenders (10 or more visits to the family doctor in each of the last two years). Data were collected from medical records and by telephone interview. The mean attendance was 6.83 (95%CI: 6.13-7.53), frequent attendance reached 25.4% (95%CI: 21.4-29.6), and persistent frequent attenders, 1.6% (95%CI: 0.5-2.9). Frequent attendance was associated with sex, age, marital status, educational level, family structure, existence of chronic disease, use of anxiolytic and antidepressants, request for additional tests, and referrals to other specialists, proximity to the health center, and level of satisfaction with their family doctor. The low persistent frequent attenders found suggests that frequent attendance could be largely due to factors related to professional and organization. Studies are required to address the high level of consumption of psychotropic drugs, and improving professional skills in dealing with mental problems. Copyright © 2014 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España, S.L.U. All rights reserved.

  18. Corporate Social Responsibility in Large Family and Founder Firms

    NARCIS (Netherlands)

    J.H. Block (Jörn); M. Wagner (Marcus)

    2010-01-01

    textabstractBased on arguments about long-term orientation and corporate reputation, we argue that family and founder firms differ from other firms with regard to corporate social responsibility. Using Bayesian analysis, we then show that family and founder ownership are associated with a lower

  19. 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

  20. Familial gigantism

    NARCIS (Netherlands)

    W.W. de Herder (Wouter)

    2012-01-01

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

  1. Clinical reinvestigation and linkage analysis in the family with Episkopi blindness (Norrie disease).

    Science.gov (United States)

    Wolff, G; Mayerová, A; Wienker, T F; Atalianis, P; Ioannou, P; Warburg, M

    1992-11-01

    We present the results of a clinical and genetic reinvestigation of the Cypriot family affected by an X chromosomally inherited eye disease originally published by Taylor et al, who coined the term Episkopi blindness. The pedigree was extended to 160 members, including 16 affected males out of 48 males at risk for the disease, most of whom were seen by one of us (PA). Affected males are blind with no associated symptoms and apparently are not mentally retarded. Thirty-nine family members agreed to blood sampling for genetic investigations. RFLP analysis was performed using probes from the region known to be deleted in some Norrie patients and polymorphic markers (DXS77, DXS7, MAOA, DXS255) from the proximal short arm of the X chromosome. There was no deletion for any of the probes in the affected males. Linkage analysis yielded positive lod scores for all informative markers (Z (DXS255, theta = 0) = 6.54, Z (MAOA, theta = 0) = 2.23, Z (DXS7, theta = 0) = 2.13). Thus, the conclusion that Episkopi blindness and Norrie disease (NDP, MIM *310600) are the same entity based on clinical evidence is now reinforced by gene mapping.

  2. Clinical investigation of large perfusion defect cases with 201Tl exercise myocardial scintigraphy

    International Nuclear Information System (INIS)

    Morota, Motoi; Kobayashi, Yasuhiko

    1999-01-01

    We investigated retrospectively the clinical significance of large perfusion defect on 201 Thallium myocardial scintigraphy from the records of 833 patients during the past 3 years from 1991 to 1994. The patients were divided into 3 groups according to the extent of perfusion defect; cases with normal perfusion (n=561), with small perfusion defect (n=211) and with large perfusion defect (n=61). We found that the proportions of cases with large perfusion defect was significantly larger than that of cases with small perfusion defect in myocardial disease (MD; hypertrophic cardiomyopathy, dilated cardiomyopathy, and post myocarditis combined) (P 201 Thallium myocardial scintigraphy and that complication of diabetes mellitus and clinical symptoms may be useful in differentiating IHD from MD. (author)

  3. Factors affecting quality of care in family planning clinics: a study from Iran.

    Science.gov (United States)

    Shahidzadeh-Mahani, Ali; Omidvari, Sepideh; Baradaran, Hamid-Reza; Azin, Seyyed-Ali

    2008-08-01

    Despite good contraceptive coverage rates, recent studies in Iran have shown an alarmingly high incidence of unplanned pregnancy. To determine factors affecting quality of family planning services, a cross-sectional study was performed from June to August 2006 on women visiting urban Primary Health Care clinics in a provincial capital in western Iran. The primary focus of the study was on provider-client interaction. We used a slightly edited version of a UNICEF checklist and a convenient sampling method to assess quality of care in 396 visits to the family planning sections at 25 delivery points. Poor performance was observed notably in Counselling and Choice of method sections. In logistic regression analysis, the following factors were found to be associated with higher quality of care: provider experience [OR (odds ratio)=1.9, CI(0.95) (confidence interval)=1.2-3.0], low provider education (OR=6.7, CI(0.95)=4.0-10.8), smaller workload at the clinic (OR=3.7, CI(0.95)=2.0-6.7), and 'new client' status (OR=4.2, CI(0.95)=2.6-6.7). This study identified the issues of counselling and information exchange as the quality domains in serious need of improvement; these areas are expected to be the focus of future training programmes for care providers. Also, priority should be given to devising effective supervision mechanisms and on-the-job training of senior nursing and midwifery graduates to make them more competent in delivering basic family planning services.

  4. Access to emergency hormonal contraception from community pharmacies and family planning clinics

    Science.gov (United States)

    Lewington, Gaye; Marshall, Kay

    2006-01-01

    Aims To evaluate differences in the time taken to access progestogen-only emergency hormonal contraception (EHC) by young women from family planning (FP) or community pharmacy settings. Methods An observational study of 203 women requesting EHC from FP clinics and community pharmacies in South-west Kent Primary Care Trust (PCT) from December 2002 to October 2003. Results Access to EHC from community pharmacy was significantly faster than from FP clinics (16 h vs. 41 h, P < 0.001). Older teenagers tended to seek EHC more quickly and were more likely to have had a contraceptive failure rather than have used no contraception at all. Conclusion The results provide further support for pharmacist involvement in the supply of EHC. PMID:16669854

  5. The sensitivity of diffuse large B-cell lymphoma cell lines to histone deacetylase inhibitor-induced apoptosis is modulated by BCL-2 family protein activity.

    Directory of Open Access Journals (Sweden)

    Ryan C Thompson

    Full Text Available BACKGROUND: Diffuse large B-cell lymphoma (DLBCL is a genetically heterogeneous disease and this variation can often be used to explain the response of individual patients to chemotherapy. One cancer therapeutic approach currently in clinical trials uses histone deacetylase inhibitors (HDACi's as monotherapy or in combination with other agents. METHODOLOGY/PRINCIPAL FINDINGS: We have used a variety of cell-based and molecular/biochemical assays to show that two pan-HDAC inhibitors, trichostatin A and vorinostat, induce apoptosis in seven of eight human DLBCL cell lines. Consistent with previous reports implicating the BCL-2 family in regulating HDACi-induced apoptosis, ectopic over-expression of anti-apoptotic proteins BCL-2 and BCL-XL or pro-apoptotic protein BIM in these cell lines conferred further resistance or sensitivity, respectively, to HDACi treatment. Additionally, BCL-2 family antgonist ABT-737 increased the sensitivity of several DLBCL cell lines to vorinostat-induced apoptosis, including one cell line (SUDHL6 that is resistant to vorinostat alone. Moreover, two variants of the HDACi-sensitive SUDHL4 cell line that have decreased sensitivity to vorinostat showed up-regulation of BCL-2 family anti-apoptotic proteins such as BCL-XL and MCL-1, as well as decreased sensitivity to ABT-737. These results suggest that the regulation and overall balance of anti- to pro-apoptotic BCL-2 family protein expression is important in defining the sensitivity of DLBCL to HDACi-induced apoptosis. However, the sensitivity of DLBCL cell lines to HDACi treatment does not correlate with expression of any individual BCL-2 family member. CONCLUSIONS/SIGNIFICANCE: These studies indicate that the sensitivity of DLBCL to treatment with HDACi's is dependent on the complex regulation of BCL-2 family members and that BCL-2 antagonists may enhance the response of a subset of DLBCL patients to HDACi treatment.

  6. Economic incentives of family controlling shareholders and the monitoring role of non-dominant large shareholders in corporate governance: Evidence from the manufacturing firms in Malaysia

    Directory of Open Access Journals (Sweden)

    Chin Fei Goh

    2014-08-01

    Full Text Available This article explores the economic incentives of dominant controlling shareholders with regard to the expropriation of minority shareholders, on the one hand, and the monitoring role of non-dominant large shareholders in family firms, on the other. The authors argue that family controlling shareholders (or family owners do not share common interests with other shareholders. Drawing on 141 family firms in the manufacturing sector that were listed on Bursa Malaysia (the Malaysian stock exchange from 2003 to 2006, the article finds an inverted U-shaped relationship between excess control rights and a firm's market performance. The findings also show that both the cash flow rights (i.e. claims on cash payouts of family controlling shareholders and the presence of non-dominant large shareholders with the ability to contest control of the firm have a positive relationship with market performance.  This study contributes to the literature by indicating that family owners are unlikely to collude with other large shareholders to expropriate minority shareholders. Furthermore, low levels of excess family-owner control rights are beneficial for market performance because firms may benefit from group affiliations and receive patronage from wealthy owners. However, high levels of excess control rights are understood to be an economic incentive for family owners to expropriate minority shareholders during non-crisis periods.

  7. Familial gigantism

    Directory of Open Access Journals (Sweden)

    Wouter W. de Herder

    2012-01-01

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

  8. Are parental ADHD problems associated with a more severe clinical presentation and greater family adversity in children with ADHD?

    OpenAIRE

    Agha, Sharifah Shameem; Zammit, Stanley; Thapar, Anita; Langley, Kate

    2013-01-01

    Although Attention Deficit Hyperactivity Disorder (ADHD) is recognised to be a familial and heritable disorder, little is known about the broader family characteristics of having a parent with ADHD problems. The main aim of this study was to investigate the relationship between parent ADHD problems, child clinical presentation and family functioning in a sample of children with ADHD. The sample consisted of 570 children with ADHD. Child psychopathology was assessed using a semi-structured dia...

  9. Clinical and genetic linkage analysis of a large Venezuelan kindred with Usher syndrome.

    Science.gov (United States)

    Keogh, Ivan J; Godinho, R N; Wu, T Po; Diaz de Palacios, A M; Palacios, N; Bello de Alford, M; De Almada, M I; MarPalacios, N; Vazquez, A; Mattei, R; Seidman, C; Seidman, J; Eavey, R D

    2004-08-01

    To undertake a comprehensive investigation into the very high incidence of congenital deafness on the Macano peninsula of Margarita Island, Venezuela. Numerous visits were made to the isolated island community over a 4-year-period. During these visits, it became apparent that a significant number of individuals complained of problems with hearing and vision. Socioeconomic assessments, family pedigrees and clinical histories were recorded on standard questionnaires. All individuals underwent thorough otolaryngologic and ophthalmologic examinations. Twenty milliliters of peripheral venous blood was obtained from each participant. A genome-wide linkage analysis study was performed. Polymorphic microsatellite markers were amplified by polymerase chain reaction and separated on polyacrylamide gels. An ABI 377XL sequencer was used to separate fragments and LOD scores were calculated by using published software. Twenty-four families were identified, comprising 329 individuals, age range 1-80 years, including 184 children. All families were categorized in the lower two (least affluent) socioeconomic categories. A high incidence of consanguinity was detected. Fifteen individuals (11 adults, 4 children) had profound congenital sensorineural hearing loss, vestibular areflexia and retinitis pigmentosa. A maximum LOD score of 6.76 (Linkage >3.0), between markers D11s4186 and D11s911, confirmed linkage to chromosome 11q13.5. The gene myosin VIIA (MYO7A) was confirmed in the interval. Clinical and genetic findings are consistent with a diagnosis of Usher syndrome 1B for those with hearing and vision problems. We report 15 Usher syndrome 1B individuals from a newly detected Latin American socio-demographic origin, with a very high prevalence of 76 per 100,000 population.

  10. Longitudinal Impact of a Randomized Clinical Trial to Improve Family Function, Reduce Maternal Stress and Improve Child Outcomes in Families of Children with ADHD.

    Science.gov (United States)

    Churchill, Shervin S; Leo, Michael C; Brennan, Eileen M; Sellmaier, Claudia; Kendall, Judy; Houck, Gail M

    2018-02-23

    Objective Evaluate the efficacy of a 12 month nursing case-management intervention over a period of 18 months, 6 months after the end of intervention, for families of children attention deficit hyperactivity disorder (ADHD). Methods Mother and child dyads were enrolled to participate in a randomized controlled clinical trial. Children were 4-18 years old. Data were collected at baseline, 6, 12, and 18 months or 6 months after the termination of direct intervention. Longitudinal analyses, using generalized estimating equations, were conducted to assess change in study outcomes relating to family function, maternal stress, and child behavior over the 18 month period. Results Compared to control families, some family function outcomes were moderately improved in the intervention group. In particular, intervention families demonstrated substantial improvement in implementing family behavior controls (p value = 0.038) and improvement in family satisfaction (not statistically significant p = 0.062). Although there was improvement in the overall family function measure there was not a statistically significant difference between groups. Maternal stress and child behavior outcomes were not significantly different between control and intervention groups by the end of the intervention. Conclusions for Practice Addressing ADHD is complex and requires the assessment of comorbidities that might exacerbate negative behavior. Our findings support the latest American Academy of Pediatrics guidelines to use behavioral therapy as the first line of treatment in young children. Nursing case-management interventions that provide direct family education and improve family function, especially with respect to providing structure and behavior control, may complement and facilitate behavioral therapy for treatment of ADHD and improving child behavior.

  11. Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the mitochondrial 12S rRNA C1494T mutation

    International Nuclear Information System (INIS)

    Wang Qiuju; Li Qingzhong; Han Dongyi; Zhao Yali; Zhao Lidong; Qian Yaping; Yuan Hu; Li Ronghua; Zhai Suoqiang; Young Wieyen; Guan Minxin

    2006-01-01

    We report here the clinical, genetic, and molecular characterization of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss. Five of nine matrilineal relatives had aminoglycoside-induced hearing loss. These matrilineal relatives exhibited variable severity and audiometric configuration of hearing impairment, despite sharing some common features: being bilateral and having sensorineural hearing impairment. Sequence analysis of mitochondrial DNA (mtDNA) in the pedigree identified 16 variants and the homoplasmic 12S rRNA C1494T mutation, which was associated with hearing loss in the other large Chinese family. In fact, the occurrence of the C1494T mutation in these genetically unrelated pedigrees affected by hearing impairment strongly indicated that this mutation is involved in the pathogenesis of aminoglycoside-induced and nonsyndromic hearing loss. However, incomplete penetrance of hearing loss indicated that the C1494T mutation itself is not sufficient to produce a clinical phenotype but requires the involvement of modifier factors for the phenotypic expression. Those mtDNA variants, showing no evolutional conservation, may not have a potential modifying role in the pathogenesis of the C1494T mutation. However, nuclear background seems to contribute to the phenotypic variability of matrilineal relatives in this family. Furthermore, aminoglycosides modulate the expressivity and penetrance of deafness associated with the C1494T mutation in this family

  12. Implementing family nursing: how do we translate knowledge into clinical practice? Part II: The evolution of 20 years of teaching, research, and practice to a Center of Excellence in Family Nursing.

    Science.gov (United States)

    Duhamel, Fabie

    2010-02-01

    The author's reflections on knowledge transfer/translation highlight the importance of the circular process between science and practice knowledge, leading to the notion of "knowledge exchange." She addresses the dilemmas of translating knowledge into clinical practice by describing her academic contributions to knowledge exchange within Family Systems Nursing (FSN). Teaching and research strategies are offered that address the circularity between science and practice knowledge. The evolution of 20 years of teaching, research, and clinical experience has resulted in the recent creation of a Center of Excellence in Family Nursing at the University of Montreal. The three main objectives of the Center uniquely focus on knowledge exchange by providing (a) a training context for skill development for nurses specializing in FSN, (b) a research milieu for knowledge "creation" and knowledge "in action" studies to further advance the practice of FSN, and (c) a family healing setting to support families who experience difficulty coping with health issues.

  13. A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome)

    NARCIS (Netherlands)

    Brooks, AS; Breuning, MH; Osinga, J; Van der Smagt, JJ; Catsman, CE; Buys, CHCM; Meijers, C; Hofstra, RMW

    Hirschsprung disease, mental retardation, microcephaly, and specific craniofacial dysmorphism were observed in three children from a large, consanguineous, Moroccan family. A fourth child showed similar clinical features, with the exception of Hirschsprung disease. The association of these

  14. Evaluating the performance of clinical criteria for predicting mismatch repair gene mutations in Lynch syndrome: a comprehensive analysis of 3,671 families.

    Science.gov (United States)

    Steinke, Verena; Holzapfel, Stefanie; Loeffler, Markus; Holinski-Feder, Elke; Morak, Monika; Schackert, Hans K; Görgens, Heike; Pox, Christian; Royer-Pokora, Brigitte; von Knebel-Doeberitz, Magnus; Büttner, Reinhard; Propping, Peter; Engel, Christoph

    2014-07-01

    Carriers of mismatch repair (MMR) gene mutations have a high lifetime risk for colorectal and endometrial cancers, as well as other malignancies. As mutation analysis to detect these patients is expensive and time-consuming, clinical criteria and tumor-tissue analysis are widely used as pre-screening methods. The aim of our study was to evaluate the performance of commonly applied clinical criteria (the Amsterdam I and II Criteria, and the original and revised Bethesda Guidelines) and the results of tumor-tissue analysis in predicting MMR gene mutations. We analyzed 3,671 families from the German HNPCC Registry and divided them into nine mutually exclusive groups with different clinical criteria. A total of 680 families (18.5%) were found to have a pathogenic MMR gene mutation. Among all 1,284 families with microsatellite instability-high (MSI-H) colorectal cancer, the overall mutation detection rate was 53.0%. Mutation frequencies and their distribution between the four MMR genes differed significantly between clinical groups (p small-bowel cancer (p small-bowel cancer were clinically relevant predictors for Lynch syndrome. © 2013 UICC.

  15. Family medicine in Republic of Srpska

    Directory of Open Access Journals (Sweden)

    Račić Maja

    2015-01-01

    Full Text Available The Family Medicine Development Project in Republic of Srpska was an initiative funded by the Canadian International Development Agency (CIDA. The project introduced family medicine into undergraduate curricula, established three-years long program of residency in family medicine in 1999, created departments of family medicine in both medical schools, helped with the process of establishing a professional association of family physicians, worked with Ministries of health and social welfare to establish supportive policies for these activities, and regularly provided continuing medical education programs for family practitioners during the 13 years of the project. Today, three family medicine teaching centers exist in RS (Primary health care centers Banja Luka, Foča and Bijeljina where more than 600 physicians were educated either through residency or additional training program in family medicine. Almost 1000 primary care nurses completed additional training. Family medicine centered primary health care reform was a complex innovation, involving organizational, financial, clinical and relational changes. An important factor influencing the adoption of this complex innovation in RS was the perceived benefits of the innovation: benefits which accrue to the users, family physicians, nurses and policy makers. With political commitment, an enabling economic environment and equitable distribution of resources, comprehensive primary health has proved to be a better strategy in achieving the goal of health for all. However, although family medicine passed through long journey from imposition to partnership, there is still large place for the improvement.

  16. Lethal/severe osteogenesis imperfecta in a large family: a novel homozygous LEPRE1 mutation and bone histological findings

    NARCIS (Netherlands)

    van Dijk, Fleur S.; Nikkels, Peter G. J.; den Hollander, Nicolette S.; Nesbitt, Isabel M.; van Rijn, Rick R.; Cobben, Jan M.; Pals, Gerard

    2011-01-01

    We report a large consanguineous Turkish family in which multiple individuals are affected with autosomal recessive lethal or severe osteogenesis imperfecta (OI) due to a novel homozygous LEPRE1 mutation. In one affected individual histological studies of bone tissue were performed, which may

  17. Clinical Significance of ErbB Receptor Family in Urothelial Carcinoma of the Bladder: A Systematic Review and Meta-Analysis

    Directory of Open Access Journals (Sweden)

    Yuh-Shyan Tsai

    2012-01-01

    Full Text Available The prognostic importance of examining ErbB receptor family expression in human bladder cancer remains uncertain. Using published evidence, we examined the clinical value and the updated results of clinical trials targeting ErbB receptor family members. Twenty-seven articles from 65 references related to ErbB receptor expression assessment in bladder cancer were reviewed. The estimates included the association significance, hazard ratios, and 95% confidence intervals (CIs from actuarial curves and survival analyses. A meta-analysis was done on those reports using univariate log-rank tests or a Cox-regression model. The methods of analysis and study subjects chosen varied widely among studies. The overall risks of disease progression for patients with EGFR or ErbB2 overexpression were 4.5 (95% CI: 2.5–8.4 and 1.1 (95% CI: 0.6–1.9, and the risks of mortality were 3.0 (95% CI: 1.6–5.9 and 1.1 (95% CI: 1.0–1.2, respectively. However, the significance of coexpression patterns of the ErbB receptor family remains controversial. None of six clinical trials yielded convincing results for blockading ErbB receptor signaling in urothelial carcinoma. The results of this analysis suggest that assessing co-expression patterns of the ErbB family may provide better prognostic information for bladder cancer patients.

  18. Deciphering the clinical effect of drugs through large-scale data integration

    DEFF Research Database (Denmark)

    Kjærulff, Sonny Kim

    . This work demonstrates the power of a strategy that uses clinical data mining in association with chemical biology in order to reduce the search space and aid identification of novel drug actions. The second article described in chapter 3 outlines a high confidence side-effect-drug interaction dataset. We...... demonstrates the importance of using high-confidence drug-side-effect data in deciphering the effect of small molecules in humans. In summary, this thesis presents computational systems chemical biology approaches that can help identify clinical effects of small molecules through large-scale data integration...

  19. Attitude of the youth to the institute of family and family values

    Directory of Open Access Journals (Sweden)

    Artur A. Rean

    2016-03-01

    Full Text Available The paper draws attention to the large number of divorces in contemporary Russia. It is emphasized that much of them fall on the first years of marriage. However, most of the surveys conducted in recent years have shown that the family is one of the leading positions in the structure of adolescent value. On the basis of this juxtaposition, it is concluded that young people need to be specially trained for family life. Contemporary family and the school cannot cope with this task. We have carried out a large-scale empirical study in eight regions of different federal districts of Russia, the results of which are shown in the paper. Total sample amounted of more than 7,000 people. The sample included respondents from large and small cities in Russia, as well as from the villages of nuclear and one-parent families, families with 1-2 children and also large families. The research has shown that in the structure of life values the family still occupies the first position. It was also found that the vast majority of respondents emphasize the need to be specially trained for building a family. However, only one third of respondents believe that this can be done by conducting special courses on the family and family life in schools. For the majority of the respondents, their parent family is not a guide or a pattern. The greatest impact on the youth in the process of growing up is produced by mother. Fathers, occupying the second position, prove to be outsiders with a large gap. It was revealed that a generalized portrait of the mother and the father are completely positive, i.e. they do not contain any negative characteristics. The top ten most popular qualities to describe father and mother are the following: kind, reliable, caring, responsible, family-making, smart. Other qualities of the top ten highest priorities differ.

  20. Hypertrophic Cardiomyopathy: Clinical Update.

    Science.gov (United States)

    Geske, Jeffrey B; Ommen, Steve R; Gersh, Bernard J

    2018-05-01

    Hypertrophic cardiomyopathy (HCM) is the most common heritable cardiomyopathy, manifesting as left ventricular hypertrophy in the absence of a secondary cause. The genetic underpinnings of HCM arise largely from mutations of sarcomeric proteins; however, the specific underlying mutation often remains undetermined. Patient presentation is phenotypically diverse, ranging from asymptomatic to heart failure or sudden cardiac death. Left ventricular hypertrophy and abnormal ventricular configuration result in dynamic left ventricular outflow obstruction in most patients. The goal of therapeutic interventions is largely to reduce dynamic obstruction, with treatment modalities spanning lifestyle modifications, pharmacotherapies, and septal reduction therapies. A small subset of patients with HCM will experience sudden cardiac death, and risk stratification remains a clinical challenge. This paper presents a clinical update for diagnosis, family screening, clinical imaging, risk stratification, and management of symptoms in patients with HCM. Copyright © 2018 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

  1. Retrospective analysis of cohort database: Phenotypic variability in a large dataset of patients confirmed to have homozygous familial hypercholesterolemia

    Directory of Open Access Journals (Sweden)

    Frederick J. Raal

    2016-06-01

    Full Text Available These data describe the phenotypic variability in a large cohort of patients confirmed to have homozygous familial hypercholesterolemia. Herein, we describe the observed relationship of treated low-density lipoprotein cholesterol with age. We also overlay the low-density lipoprotein receptor gene (LDLR functional status with these phenotypic data. A full description of these data is available in our recent study published in Atherosclerosis, “Phenotype Diversity Among Patients With Homozygous Familial Hypercholesterolemia: A Cohort Study” (Raal et al., 2016 [1].

  2. Short-chain Acyl-CoA dehydrogenase deficiency: studies in a large family adding to the complexity of the disorder

    NARCIS (Netherlands)

    Bok, Levinus A.; Vreken, Peter; Wijburg, Frits A.; Wanders, Ronald J. A.; Gregersen, Niels; Corydon, Morten J.; Waterham, Hans R.; Duran, Marinus

    2003-01-01

    OBJECTIVE: To understand the expanding clinical and biochemical spectrum of short-chain acyl-CoA dehydrogenase (SCAD) deficiency, the impact of which is not fully understood. STUDY DESIGN: We studied a family with SCAD deficiency and determined urinary ethylmalonic acid excretion, plasma

  3. When One Does Not Want to Be Like Others. The Basis of the Sense of Control among Conservative Laestadian Mothers with Large Families

    Directory of Open Access Journals (Sweden)

    Leena Pesälä

    2004-01-01

    Full Text Available Large families are the most characteristic feature of the Conservative Laestadian revivalist movement. In this research project belonging to the ? eld of psychology my aim is to describe the facts on which the sense of control of the Laestadian mothers with large families is based. My research method is a qualitative contents analysis. The results indicate that the mothers personal faith is the most important element in their sense of control. The values based on the Conservative Laestadian beliefs give a clear and safe structure for life. The most important role of the spouse is to support his wife emotionally, socially and spiritually. Behind the active parenthood of the mothers are the life management skills acquired in their families of origin as well as the experience acquired from motherhood. Family members share both mental and physical responsibilities, consequently supporting the mother. The mothers did not experience that they should not behave according to the family planning practises characteristic of our time. They do not want to be like others.

  4. Annotation and analysis of a large cuticular protein family with the R&R Consensus in Anopheles gambiae

    Directory of Open Access Journals (Sweden)

    He Ningjia

    2008-01-01

    Full Text Available Abstract Background The most abundant family of insect cuticular proteins, the CPR family, is recognized by the R&R Consensus, a domain of about 64 amino acids that binds to chitin and is present throughout arthropods. Several species have now been shown to have more than 100 CPR genes, inviting speculation as to the functional importance of this large number and diversity. Results We have identified 156 genes in Anopheles gambiae that code for putative cuticular proteins in this CPR family, over 1% of the total number of predicted genes in this species. Annotation was verified using several criteria including identification of TATA boxes, INRs, and DPEs plus support from proteomic and gene expression analyses. Two previously recognized CPR classes, RR-1 and RR-2, form separate, well-supported clades with the exception of a small set of genes with long branches whose relationships are poorly resolved. Several of these outliers have clear orthologs in other species. Although both clades are under purifying selection, the RR-1 variant of the R&R Consensus is evolving at twice the rate of the RR-2 variant and is structurally more labile. In contrast, the regions flanking the R&R Consensus have diversified in amino-acid composition to a much greater extent in RR-2 genes compared with RR-1 genes. Many genes are found in compact tandem arrays that may include similar or dissimilar genes but always include just one of the two classes. Tandem arrays of RR-2 genes frequently contain subsets of genes coding for highly similar proteins (sequence clusters. Properties of the proteins indicated that each cluster may serve a distinct function in the cuticle. Conclusion The complete annotation of this large gene family provides insight on the mechanisms of gene family evolution and clues about the need for so many CPR genes. These data also should assist annotation of other Anopheles genes.

  5. Management of prediabetes: a comparison of the treatment approaches utilized by a family practice clinic and an internal medicine/endocrinology practice.

    Science.gov (United States)

    Anderson, Zachary L; Scopelliti, Emily M; Trompeter, Jessica M; Havrda, Dawn E

    2015-02-01

    To compare the management of prediabetes between a family practice clinic and internal medicine/endocrinology practice. A randomized, retrospective evaluation of the medical history in 168 eligible patients with a diagnosis of prediabetes or abnormal blood glucose (BG) at a family practice clinic (n = 78) and an internal medicine/endocrinology practice (n = 90). The internal medicine/endocrinology practice provided more counseling regarding lifestyle modifications (91.1% vs 76.9%, P = .039), specific physical activity recommendations (26.7% vs 7.7%, P = .003), and recommended more patients receive 150 minutes/week of moderate exercise (8.9% vs 1.3%, P = .038). The family practice clinic provided more written dietary information (16.9% vs 13.3%, P = .044) and specific weight loss goals (20.5% vs 6.7%, P = .015). The internal medicine/endocrinology practice initiated pharmacological therapy in more patients (51.1% vs 3.8%, P< .001) and had a significant decrease in fasting BG from baseline compared to the family practice clinic (-9.0 vs -5.6 mg/dL, P< .001). Providers are likely to initiate nonpharmacological therapy but may not provide specific education recommended by the American Diabetes Association. The integration of a multidisciplinary team to provide guideline-based nonpharmacologic counseling may be beneficial in improving outcomes in the management of prediabetes. © The Author(s) 2013.

  6. R47H Variant of TREM2 Associated With Alzheimer Disease in a Large Late-Onset Family

    Science.gov (United States)

    Korvatska, Olena; Leverenz, James B.; Jayadev, Suman; McMillan, Pamela; Kurtz, Irina; Guo, Xindi; Rumbaugh, Malia; Matsushita, Mark; Girirajan, Santhosh; Dorschner, Michael O.; Kiianitsa, Kostantin; Yu, Chang-En; Brkanac, Zoran; Garden, Gwenn A.; Raskind, Wendy H.; Bird, Thomas D.

    2016-01-01

    Importance The R47H variant in the triggering receptor expressed on myeloid cells 2 gene (TREM2), a modulator of the immune response of microglia, is a strong genetic risk factor for Alzheimer disease (AD) and possibly other neurodegenerative disorders. Objective To investigate a large family with late-onset AD (LOAD), in which R47H cosegregated with 75% of cases. Design, Setting, and Participants This study includes genetic and pathologic studies of families with LOAD from 1985 to 2014. A total of 131 families with LOAD (751 individuals) were included from the University of Washington Alzheimer Disease Research Center. To identify LOAD genes/risk factors in the LOAD123 family with 21 affected members and 12 autopsies, we sequenced 4 exomes. Candidate variants were tested for cosegregation with the disease. TREM2 R47H was genotyped in an additional 130 families with LOAD. We performed clinical and neuropathological assessments of patients with and without R47H and evaluated the variant's effect on brain pathology, cellular morphology, and expression of microglial markers. Main Outcomes and Measures We assessed the effect of TREM2 genotype on age at onset and disease duration. We compared Braak and Consortium to Establish a Registry for Alzheimer's Disease scores, presence of α-synuclein and TAR DNA-binding protein 43 aggregates, and additional vascular or Parkinson pathology in TREM2 R47H carriers vs noncarriers. Microglial activation was assessed by quantitative immunohistochemistry and morphometry. Results Twelve of 16 patients with AD in the LOAD123 family carried R47H. Eleven patients with dementia had apolipoprotein E 4 (ApoE4) and R47H genotypes. We also found a rare missense variant, D353N, in a nominated AD risk gene, unc-5 homolog C (UNC5C), in 5 affected individuals in the LOAD123 family. R47H carriers demonstrated a shortened disease duration (mean [SD], 6.7 [2.8] vs 11.1 [6.6] years; 2-tailed t test; P = .04) and more frequent α-synucleinopathy. The

  7. Clinical and neurophysiologic characterization of an European family with hereditary sensory neuropathy, paroxysmal cough and gastroesophageal reflux

    Directory of Open Access Journals (Sweden)

    Pedro Barros

    2014-04-01

    Full Text Available In 2002, Spring et al reported a family with an autosomal dominant form of hereditary sensory neuropathy; patients also presented adult onset of gastroesophageal reflux and cough. Since then, no further families have been described. Objective: To study a new Portuguese family with these characteristics. Method: To describe the clinical and neurophysiologic characteristics of one family with features of sensory neuropathy associated with cough and gastroesophageal erflux. Results: Three of five siblings presented a similar history of paroxysmal cough (5th decade. About a decade later they experienced numbness and paraesthesia in the feets and in all cases there was evidence of an axonal sensory neuropathy. A history of gastroesophageal reflux of variable severity and age of onset was also present. Discussion: Molecular genetic studies have demonstrated genetic heterogeneity between the hereditary sensory neuropathy type 1 subtypes. The identification of these families is of major importance because further work is required to identify the underlying genetic defect.

  8. Clinical and neurophysiologic characterization of an European family with hereditary sensory neuropathy, paroxysmal cough and gastroesophageal reflux.

    Science.gov (United States)

    Barros, Pedro; Morais, Hugo; Santos, Catarina; Roriz, José; Coutinho, Paula

    2014-04-01

    In 2002, Spring et al reported a family with an autosomal dominant form of hereditary sensory neuropathy; patients also presented adult onset of gastroesophageal reflux and cough. Since then, no further families have been described. To study a new Portuguese family with these characteristics. To describe the clinical and neurophysiologic characteristics of one family with features of sensory neuropathy associated with cough and gastroesophageal erflux. Three of five siblings presented a similar history of paroxysmal cough (5th decade). About a decade later they experienced numbness and paraesthesia in the feet and in all cases there was evidence of an axonal sensory neuropathy. A history of gastroesophageal reflux of variable severity and age of onset was also present. Molecular genetic studies have demonstrated genetic heterogeneity between the hereditary sensory neuropathy type 1 subtypes. The identification of these families is of major importance because further work is required to identify the underlying genetic defect.

  9. Small family, smart family? : family size and the IQ scores of young men

    OpenAIRE

    Black, Sandra E.; Devereux, Paul J.; Salvanes, Kjell Gunnar

    2007-01-01

    How do families influence the ability of children? Cognitive skills have been shown to be a strong predictor of educational attainment and future labor market success; as a result, understanding the determinants of cognitive skills can lead to a better understanding of children's long run outcomes. This paper uses a large dataset on the male population of Norway and focuses on one family characteristic: the effect of family size on IQ. Because of the endogeneity of family size, we instrument ...

  10. Family physician clinical inertia in glycemic control among patients with type 2 diabetes.

    Science.gov (United States)

    Bralić Lang, Valerija; Bergman Marković, Biserka; Kranjčević, Ksenija

    2015-02-05

    Many patients with diabetes do not achieve target values. One of the reasons for this is clinical inertia. The correct explanation of clinical inertia requires a conjunction of patient with physician and health care system factors. Our aim was to determine the rate of clinical inertia in treating diabetes in primary care and association of patient, physician, and health care setting factors with clinical inertia. This was a national, multicenter, observational, cross-sectional study in primary care in Croatia. Each family physician (FP) provided professional data and collected clinical data on 15-25 type 2 diabetes (T2DM) patients. Clinical inertia was defined as a consultation in which treatment change based on glycated hemoglobin (HbA1c) levels was indicated but did not occur. A total of 449 FPs (response rate 89.8%) collected data on 10275 patients. Mean clinical inertia per FP was 55.6% (SD ±26.17) of consultations. All of the FPs were clinically inert with some patients, and 9% of the FPs were clinically inert with all patients. The main factors associated with clinical inertia were: higher percentage of HbA1c, oral anti-diabetic drug initiated by diabetologist, increased postprandial glycemia and total cholesterol, physical inactivity of patient, and administration of drugs other than oral antidiabetics. Clinical inertia in treating patients with T2DM is a serious problem. Patients with worse glycemic control and those whose therapy was initiated by a diabetologist experience more clinical inertia. More research on causes of clinical inertia in treating patients with T2DM should be conducted to help achieve more effective diabetes control.

  11. Family Caregivers and Consumer Health Information Technology.

    Science.gov (United States)

    Wolff, Jennifer L; Darer, Jonathan D; Larsen, Kevin L

    2016-01-01

    Health information technology has been embraced as a strategy to facilitate patients' access to their health information and engagement in care. However, not all patients are able to access, or are capable of using, a computer or mobile device. Although family caregivers assist individuals with some of the most challenging and costly health needs, their role in health information technology is largely undefined and poorly understood. This perspective discusses challenges and opportunities of engaging family caregivers through the use of consumer-oriented health information technology. We compile existing evidence to make the case that involving family caregivers in health information technology as desired by patients is technically feasible and consistent with the principles of patient-centered and family-centered care. We discuss how more explicit and purposeful engagement of family caregivers in health information technology could advance clinical quality and patient safety by increasing the transparency, accuracy, and comprehensiveness of patient health information across settings of care. Finally, we describe how clarifying and executing patients' desires to involve family members or friends through health information technology would provide family caregivers greater legitimacy, convenience, and timeliness in health system interactions, and facilitate stronger partnerships between patients, family caregivers, and health care professionals.

  12. Witnessing the effects of political violence in families: mechanisms of intergenerational transmission and clinical interventions.

    Science.gov (United States)

    Weingarten, Kaethe

    2004-01-01

    In this era of globalization, when news about political violence can haunt anyone, anywhere, those whose families have suffered political violence in the past are particularly vulnerable to current distress. Skilled in understanding transgenerational processes, family therapists need to be familiar with the mechanisms by which children are exposed to the effects of political violence suffered by their elders-that is, the ways in which they become their witnesses. This article presents a framework for understanding how the trauma of political violence experienced in one generation can "pass" to another that did not directly experience it, and proposes a model to guide clinical intervention.

  13. Patients' and physicians' satisfaction with a pharmacist managed anticoagulation program in a family medicine clinic.

    Science.gov (United States)

    Bishop, Lisa; Young, Stephanie; Twells, Laurie; Dillon, Carla; Hawboldt, John

    2015-06-09

    A pharmacist managed anticoagulation service was initiated in a multi-physician family medicine clinic in December 2006. In order to determine the patient and physician satisfaction with the service, a study was designed to describe the patients' satisfaction with the warfarin education and management they received from the pharmacist, and to describe the physicians' satisfaction with the level of care provided by the pharmacist for patients taking warfarin. A self-administered survey was completed by both eligible patients receiving warfarin and physicians prescribing warfarin between December 2006 and May 2008. The patient survey collected information on patient demographics, satisfaction with warfarin education and daily warfarin management. The physician survey collected data about the satisfaction with patient education and daily anticoagulation management by the pharmacist. Seventy-six of 94 (81%) patients completed the survey. Fifty-nine percent were male with a mean age of 65 years (range 24-90). Ninety-six percent agreed/strongly agreed the pharmacist did a good job teaching the importance of warfarin adherence, the necessity of INR testing and the risks of bleeding. Eighty-five percent agreed/strongly agreed the risk of blood clots was well explained, 79% felt the pharmacist did a good job teaching about dietary considerations and 77% agreed/strongly agreed the pharmacist explained when to see a doctor. All patients felt the pharmacist gave clear instructions on warfarin dosing and INR testing. Four of nine physicians (44%) completed the survey. All agreed/strongly agreed the pharmacist was competent in the care provided, were confident in the care their patients received, would like the pharmacist to continue the service, and would recommend this program to other clinics. Patients and family physicians were satisfied with the pharmacist managed anticoagulation program and recommended continuation of the program. These results support the role of the

  14. COPD, stage and treatment in a large outpatient clinic

    DEFF Research Database (Denmark)

    Holm, Claire Præst; Holm, Jakob; Nørgaard, Annette

    2017-01-01

    of exacerbations. Our aim was to describe COPD patient characteristics and compare roflumilast treatment eligible to non-eligible patients. An observational cross-section study was conducted. Patients were included from a large COPD outpatient clinic. Information regarding COPD patient characteristics...... was registered on a standardized form and lung function was measured. Patients were categorized according to the GOLD classification. Eligibility for roflumilast treatment was assessed and patient characteristics compared between groups. 547 patients were included. Most patients (54%) were in GOLD group D. 62...

  15. Family welfare.

    Science.gov (United States)

    Sinha, N K

    1992-01-01

    Between 1901-1921, India gained 12.9 million people because mortality remained high. The death rate fell between 1921-1951, but birth rates remained the same. Therefore 110 million people were added--2 times the population increase between 1891-1921. Between 1951-1981, the population increased to 324 million. Socioeconomic development was responsible for most of the downward trend in the birth rate during the 20th century. Even though large families were the norm in early India, religious leaders encouraged small family size. The 1st government family planning clinics in the world opened in Mysore and Bangalore in 1930. Right before Independence, the Bhore Committee made recommendations to reduce population growth such as increasing the age of marriage for girls. Since 1951 there has been a change in measures and policies geared towards population growth with each of the 7 5-Year Plans because policy makers applied what they learned from each previous plan. The 1st 5-Year Plan emphasized the need to understand what factors contribute to population growth. It also integrated family planning services into health services of hospitals and health centers. The government was over zealous in its implementation of the sterilization program (2nd 5-Year Plan, 1956-1961), however, which hurt family planning programs for many years. As of early 1992, sterilization, especially tubectomy, remained the most popular family planning method, however. The 7th 5-Year Plan changed its target of reaching a Net Reproductive Rate of 1 by 2001 to 2006-2011. It set a goal of 100% immunization coverage by 1990 but it did not occur. In 1986, the Ministry of Health and Family Welfare planned to make free contraceptives available in urban and rural areas and to involve voluntary organizations. The government needs to instill measures to increase women's status, women's literacy, and age of marriage as well as to eliminate poverty, ensure old age security, and ensure child survival and

  16. Retrospective analysis of cohort database: Phenotypic variability in a large dataset of patients confirmed to have homozygous familial hypercholesterolemia

    NARCIS (Netherlands)

    Raal, Frederick J.; Sjouke, Barbara; Hovingh, G. Kees; Isaac, Barton F.

    2016-01-01

    These data describe the phenotypic variability in a large cohort of patients confirmed to have homozygous familial hypercholesterolemia. Herein, we describe the observed relationship of treated low-density lipoprotein cholesterol with age. We also overlay the low-density lipoprotein receptor gene

  17. How Can the Evidence from Global Large-scale Clinical Trials for Cardiovascular Diseases be Improved?

    Science.gov (United States)

    Sawata, Hiroshi; Tsutani, Kiichiro

    2011-06-29

    Clinical investigations are important for obtaining evidence to improve medical treatment. Large-scale clinical trials with thousands of participants are particularly important for this purpose in cardiovascular diseases. Conducting large-scale clinical trials entails high research costs. This study sought to investigate global trends in large-scale clinical trials in cardiovascular diseases. We searched for trials using clinicaltrials.gov (URL: http://www.clinicaltrials.gov/) using the key words 'cardio' and 'event' in all fields on 10 April, 2010. We then selected trials with 300 or more participants examining cardiovascular diseases. The search revealed 344 trials that met our criteria. Of 344 trials, 71% were randomized controlled trials, 15% involved more than 10,000 participants, and 59% were funded by industry. In RCTs whose results were disclosed, 55% of industry-funded trials and 25% of non-industry funded trials reported statistically significant superiority over control (p = 0.012, 2-sided Fisher's exact test). Our findings highlighted concerns regarding potential bias related to funding sources, and that researchers should be aware of the importance of trial information disclosures and conflicts of interest. We should keep considering management and training regarding information disclosures and conflicts of interest for researchers. This could lead to better clinical evidence and further improvements in the development of medical treatment worldwide.

  18. Findings from the Families on Track Intervention Pilot Trial for Children with Fetal Alcohol Spectrum Disorders and Their Families.

    Science.gov (United States)

    Petrenko, Christie L M; Pandolfino, Mary E; Robinson, Luther K

    2017-07-01

    Individuals with fetal alcohol spectrum disorders (FASD) are at high risk for costly, debilitating mental health problems and secondary conditions, such as school disruption, trouble with the law, and substance use. The study objective was to pilot a multicomponent intervention designed to prevent secondary conditions in children with FASD and improve family adaptation. Thirty children with FASD or prenatal alcohol exposure (PAE) (ages 4 to 8) and their primary caregivers were enrolled. Families were randomized to either the Families on Track Integrated Preventive Intervention or an active control of neuropsychological assessment and personalized community referrals. The 30-week intervention integrates scientifically validated bimonthly, in-home parent behavioral consultation, and weekly child skills groups. Outcomes measured at baseline and follow-up postintervention included intervention satisfaction, child emotional and behavioral functioning, child self-esteem, caregiver knowledge of FASD and advocacy, caregiver attitudes, use of targeted parenting practices, perceived family needs met, social support, and self-care. Data analysis emphasized calculation of effect sizes and was supplemented with analysis of variance techniques. Analyses indicated that families participating in the intervention reported high program satisfaction. Relative to comparison group outcomes, the intervention was associated with medium-to-large effects for child emotion regulation, self-esteem, and anxiety. Medium-sized improvements in disruptive behavior were observed for both groups. Medium and large effects were seen for important caregiver outcomes: knowledge of FASD and advocacy, attributions of behavior, use of antecedent strategies, parenting efficacy, family needs met, social support, and self-care. This pilot study yielded promising findings from the multicomponent Families on Track Integrated Preventive Intervention for child and caregiver outcomes. An important next step is to

  19. An LMNB1 Duplication Caused Adult-Onset Autosomal Dominant Leukodystrophy in Chinese Family: Clinical Manifestations, Neuroradiology and Genetic Diagnosis

    Directory of Open Access Journals (Sweden)

    Yi Dai

    2017-07-01

    Full Text Available Autosomal dominant adult-onset demyelinating leukodystrophy (ADLD is a very rare neurological disorder featured with late onset, slowly progressive central nervous system demyelination. Duplication or over expression of the lamin B1 (LMNB1 gene causes ADLD. In this study, we undertook a comprehensive clinical evaluation and genetic detection for a Chinese family with ADLD. The proband is a 52-year old man manifested with autonomic abnormalities, pyramidal tract dysfunction. MRI brain scan identified bilateral symmetric white matter (WM hyper-intensities in periventricular and semi-oval WM, cerebral peduncles and middle cerebellar peduncles. The proband has a positive autosomal dominant family history with similar clinical manifestations with a trend of genetic anticipation. In order to understand the genetic cause of the disease in this family, target exome capture based next generation sequencing has been done, but no causative variants or possibly pathogenic variants has been identified. However, Multiplex ligand-dependent probe amplification (MLPA showed whole duplication of LMNB1 gene which is co-segregated with the disease phenotype in this family. This is the first genetically confirmed LMNB1 associated ADLD pedigree from China.

  20. Clinical and genetic characterization of chanarin-dorfman syndrome patients: first report of large deletions in the ABHD5 gene

    Directory of Open Access Journals (Sweden)

    Prati Daniele

    2010-12-01

    Full Text Available Abstract Background Chanarin-Dorfman syndrome (CDS is a rare autosomal recessive disorder characterized by nonbullous congenital ichthyosiform erythroderma (NCIE and an intracellular accumulation of triacylglycerol (TG droplets in most tissues. The clinical phenotype involves multiple organs and systems, including liver, eyes, ears, skeletal muscle and central nervous system (CNS. Mutations in ABHD5/CGI58 gene are associated with CDS. Methods Eight CDS patients belonging to six different families from Mediterranean countries were enrolled for genetic study. Molecular analysis of the ABHD5 gene included the sequencing of the 7 coding exons and of the putative 5' regulatory regions, as well as reverse transcript-polymerase chain reaction analysis and sequencing of normal and aberrant ABHD5 cDNAs. Results Five different mutations were identified, four of which were novel, including two splice-site mutations (c.47+1G>A and c.960+5G>A and two large deletions (c.898_*320del and c.662-1330_773+46del. All the reported mutations are predicted to be pathogenic because they lead to an early stop codon or a frameshift producing a premature termination of translation. While nonsense, missense, frameshift and splice-site mutations have been identified in CDS patients, large genomic deletions have not previously been described. Conclusions These results emphasize the need for an efficient approach for genomic deletion screening to ensure an accurate molecular diagnosis of CDS. Moreover, in spite of intensive molecular screening, no mutations were identified in one patient with a confirmed clinical diagnosis of CDS, appointing to genetic heterogeneity of the syndrome.

  1. Mothers' and Fathers' Ratings of Family Relationship Quality: Associations with Preadolescent and Adolescent Anxiety and Depressive Symptoms in a Clinical Sample

    Science.gov (United States)

    Queen, Alexander H.; Stewart, Lindsay M.; Ehrenreich-May, Jill; Pincus, Donna B.

    2013-01-01

    This study examined the independent associations among three family relationship quality factors--cohesion, expressiveness, and conflict--with youth self-reported depressive and anxiety symptoms in a clinical sample of anxious and depressed youth. Ratings of family relationship quality were obtained through both mother and father report. The…

  2. Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2

    DEFF Research Database (Denmark)

    Meeths, Marie; Entesarian, Miriam; Al-Herz, Waleed

    2010-01-01

    Hemophagocytic lymphohistiocytosis (HLH) is an often-fatal hyperinflammatory syndrome characterized by fever, hepatosplenomegaly, cytopenia, and in some cases hemophagocytosis. Here, we describe the mutation analysis, clinical presentation, and functional analysis of natural killer (NK) cells...... (FHL), the clinical findings included colitis, bleeding disorders, and hypogammaglobulinemia in approximately one-third of the patients. Laboratory analysis revealed impairment of NK-cell degranulation and cytotoxic capacity. Interleukin-2 stimulation of lymphocytes in vitro rescued the NK cell......-associated functional defects. In conclusion, familial HLH type 5 is associated with a spectrum of clinical symptoms, which may be a reflection of impaired expression and function of Munc18-2 also in cells other than cytotoxic lymphocytes. Mutations in STXBP2 should thus also be considered in patients with clinical...

  3. Autosomal Dominant Aniridia in A Nigerian Family: A Case Report ...

    African Journals Online (AJOL)

    A 54year old man brought his son to our clinic because of large eyeballs and poor vision from birth. Family history revealed that father and another child had poor vision and used to squeeze their faces especially in bright light. Examination of the boy revealed bilateral aniridia with congenital glaucoma. The father, the other ...

  4. A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations.

    Science.gov (United States)

    Taghavi, Shaghayegh; Chaouni, Rita; Tafakhori, Abbas; Azcona, Luis J; Firouzabadi, Saghar Ghasemi; Omrani, Mir Davood; Jamshidi, Javad; Emamalizadeh, Babak; Shahidi, Gholam Ali; Ahmadi, Mona; Habibi, Seyed Amir Hassan; Ahmadifard, Azadeh; Fazeli, Atena; Motallebi, Marzieh; Petramfar, Peyman; Askarpour, Saeed; Askarpour, Shiva; Shahmohammadibeni, Hossein Ali; Shahmohammadibeni, Neda; Eftekhari, Hajar; Shafiei Zarneh, Amir Ehtesham; Mohammadihosseinabad, Saeed; Khorrami, Mehdi; Najmi, Safa; Chitsaz, Ahmad; Shokraeian, Parasto; Ehsanbakhsh, Hossein; Rezaeidian, Jalal; Ebrahimi Rad, Reza; Madadi, Faranak; Andarva, Monavvar; Alehabib, Elham; Atakhorrami, Minoo; Mortazavi, Seyed Erfan; Azimzadeh, Zahra; Bayat, Mahdis; Besharati, Amir Mohammad; Harati-Ghavi, Mohammad Ali; Omidvari, Samareh; Dehghani-Tafti, Zahra; Mohammadi, Faraz; Mohammad Hossein Pour, Banafsheh; Noorollahi Moghaddam, Hamid; Esmaili Shandiz, Ehsan; Habibi, Arman; Taherian-Esfahani, Zahra; Darvish, Hossein; Paisán-Ruiz, Coro

    2018-04-01

    In this study, the role of known Parkinson's disease (PD) genes was examined in families with autosomal recessive (AR) parkinsonism to assist with the differential diagnosis of PD. Some families without mutations in known genes were also subject to whole genome sequencing with the objective to identify novel parkinsonism-related genes. Families were selected from 4000 clinical files of patients with PD or parkinsonism. AR inheritance pattern, consanguinity, and a minimum of two affected individuals per family were used as inclusion criteria. For disease gene/mutation identification, multiplex ligation-dependent probe amplification, quantitative PCR, linkage, and Sanger and whole genome sequencing assays were carried out. A total of 116 patients (50 families) were examined. Fifty-four patients (46.55%; 22 families) were found to carry pathogenic mutations in known genes while a novel gene, not previously associated with parkinsonism, was found mutated in a single family (2 patients). Pathogenic mutations, including missense, nonsense, frameshift, and exon rearrangements, were found in Parkin, PINK1, DJ-1, SYNJ1, and VAC14 genes. In conclusion, variable phenotypic expressivity was seen across all families.

  5. Who counts as family? Family typologies, family support, and family undermining among young adult gay and bisexual men.

    Science.gov (United States)

    Soler, Jorge H; Caldwell, Cleopatra H; Córdova, David; Harper, Gary; Bauermeister, José A

    2018-06-01

    Gay and bisexual men may form chosen families in addition to or in place of families of origin. However, the characteristics of these diverse families remain largely unexamined in the quantitative literature. The purpose of this study was to develop a family typology based on responses from a racially and ethnically diverse sample of young adult gay and bisexual men (YGBM) recruited from the Detroit Metropolitan Area (N=350; 18-29 years old). To explore the role of family, we then examined family social support and social undermining in relation to YGBM psychological distress within different family types. A series of multivariate regressions were used to examine associations between family social support and social undermining with depression and anxiety outcomes. The majority (88%) of YGBM included family of origin in their definitions of family and 63% indicated having chosen families. Associations between family social processes and psychological outcomes varied by type of family, suggesting that family composition shapes how perceptions of support and undermining relate to experiencing symptoms of depression and anxiety. Chosen families play a prominent role in the lives of YGBM and should not be overlooked in family research. Findings also highlight the importance of examining co-occurring family social support and social stress processes to further address psychological distress symptoms among YGBM.

  6. Clinical validity of a relocation stress scale for the families of patients transferred from intensive care units.

    Science.gov (United States)

    Oh, HyunSoo; Lee, Seul; Kim, JiSun; Lee, EunJu; Min, HyoNam; Cho, OkJa; Seo, WhaSook

    2015-07-01

    This study was conducted to develop a family relocation stress scale by modifying the Son's Relocation Stress Syndrome Scale, to examine its clinical validity and reliability and to confirm its suitability for measuring family relocation stress. The transfer of ICU patients to general wards is a significant anxiety-producing event for family members. However, no relocation stress scale has been developed specifically for families. A nonexperimental, correlation design was adopted. The study subjects were 95 family members of 95 ICU patients at a university hospital located in Incheon, South Korea. Face and construct validities of the devised family relocation stress scale were examined. Construct validity was examined using factor analysis and by using a nomological validity test. Reliability was also examined. Face and content validity of the scale were verified by confirming that its items adequately measured family relocation stress. Factor analysis yielded four components, and the total variance explained by these four components was 63·0%, which is acceptable. Nomological validity was well supported by significant relationships between relocation stress and degree of preparation for relocation, patient self-care ability, family burden and satisfaction with the relocation process. The devised scale was also found to have good reliability. The family relocation stress scale devised in this study was found to have good validity and reliability, and thus, is believed to offer a means of assessing family relocation stress. The findings of this study provide a reliable and valid assessment tool when nurses prepare families for patient transfer from an ICU to a ward setting, and may also provide useful information to those developing an intervention programme for family relocation stress management. © 2015 John Wiley & Sons Ltd.

  7. Li-Fraumeni-like syndrome associated with a large BRCA1 intragenic deletion

    International Nuclear Information System (INIS)

    Silva, Amanda Gonçalves; Achatz, Maria Isabel W; Rosenberg, Carla; Krepischi, Ana C V; Ewald, Ingrid Petroni; Sapienza, Marina; Pinheiro, Manuela; Peixoto, Ana; Nóbrega, Amanda França de; Carraro, Dirce M; Teixeira, Manuel R; Ashton-Prolla, Patricia

    2012-01-01

    Li-Fraumeni (LFS) and Li-Fraumeni-like (LFL) syndromes are associated to germline TP53 mutations, and are characterized by the development of central nervous system tumors, sarcomas, adrenocortical carcinomas, and other early-onset tumors. Due to the high frequency of breast cancer in LFS/LFL families, these syndromes clinically overlap with hereditary breast cancer (HBC). Germline point mutations in BRCA1, BRCA2, and TP53 genes are associated with high risk of breast cancer. Large rearrangements involving these genes are also implicated in the HBC phenotype. We have screened DNA copy number changes by MLPA on BRCA1, BRCA2, and TP53 genes in 23 breast cancer patients with a clinical diagnosis consistent with LFS/LFL; most of these families also met the clinical criteria for other HBC syndromes. We found no DNA copy number alterations in the BRCA2 and TP53 genes, but we detected in one patient a 36.4 Kb BRCA1 microdeletion, confirmed and further mapped by array-CGH, encompassing exons 9–19. Breakpoints sequencing analysis suggests that this rearrangement was mediated by flanking Alu sequences. This is the first description of a germline intragenic BRCA1 deletion in a breast cancer patient with a family history consistent with both LFL and HBC syndromes. Our results show that large rearrangements in these known cancer predisposition genes occur, but are not a frequent cause of cancer susceptibility

  8. Phenotypic Progression of Stargardt Disease in a Large Consanguineous Tunisian Family Harboring New ABCA4 Mutations

    Directory of Open Access Journals (Sweden)

    Yousra Falfoul

    2018-01-01

    Full Text Available To assess the progression of Stargardt (STGD disease over nine years in two branches of a large consanguineous Tunisian family. Initially, different phenotypes were observed with clinical intra- and interfamilial variations. At presentation, four different retinal phenotypes were observed. In phenotype 1, bull’s eye maculopathy and slight alteration of photopic responses in full-field electroretinography were observed in the youngest child. In phenotype 2, macular atrophy and yellow white were observed in two brothers. In phenotype 3, diffuse macular, peripapillary, and peripheral RPE atrophy and hyperfluorescent dots were observed in two sisters. In phenotype 4, Stargardt disease-fundus flavimaculatus phenotype was observed in two cousins with later age of onset. After a progression of 9 years, all seven patients displayed the same phenotype 3 with advanced stage STGD and diffuse atrophy. WES and MLPA identified two ABCA4 mutations M1: c.[(?_4635_(5714+?dup; (?_6148_(6479_+? del] and M2: c.[2041C>T], p.[R681∗]. In one branch, the three affected patients had M1/M1 causal mutations and in the other branch the two affected patients had M1/M2 causal mutations. After 9-year follow-up, all patients showed the same phenotypic evolution, confirming the progressive nature of the disease. Genetic variations in the two branches made no difference to similar end-stage disease.

  9. Age distribution of human gene families shows significant roles of both large- and small-scale duplications in vertebrate evolution.

    Science.gov (United States)

    Gu, Xun; Wang, Yufeng; Gu, Jianying

    2002-06-01

    The classical (two-round) hypothesis of vertebrate genome duplication proposes two successive whole-genome duplication(s) (polyploidizations) predating the origin of fishes, a view now being seriously challenged. As the debate largely concerns the relative merits of the 'big-bang mode' theory (large-scale duplication) and the 'continuous mode' theory (constant creation by small-scale duplications), we tested whether a significant proportion of paralogous genes in the contemporary human genome was indeed generated in the early stage of vertebrate evolution. After an extensive search of major databases, we dated 1,739 gene duplication events from the phylogenetic analysis of 749 vertebrate gene families. We found a pattern characterized by two waves (I, II) and an ancient component. Wave I represents a recent gene family expansion by tandem or segmental duplications, whereas wave II, a rapid paralogous gene increase in the early stage of vertebrate evolution, supports the idea of genome duplication(s) (the big-bang mode). Further analysis indicated that large- and small-scale gene duplications both make a significant contribution during the early stage of vertebrate evolution to build the current hierarchy of the human proteome.

  10. Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations.

    Science.gov (United States)

    Lozano, Reymundo; Herman, Kristin; Rothfuss, Melanie; Rieger, Hillary; Bayrak-Toydemir, Pinar; Aprile, Davide; Fruscione, Floriana; Zara, Federico; Fassio, Anna

    2016-12-01

    TBC1D24-related disorders include a wide phenotypic ranging from mild to lethal seizure disorders, non-syndromic deafness, and composite syndromes such as DOORS (deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures). The TBC1D24 gene has a role in cerebral cortex development and in presynaptic neurotransmission. Here, we present a familial case of a lethal early-onset epileptic encephalopathy, associated with two novel compound heterozygous missense variants on the TBC1D24 gene, which were detected by exome sequencing. The detailed clinical data of the three siblings is summarized in order to support the variability of the phenotype, severity, and progression of this disorder among these family members. Functional studies demonstrated that the identified novel missense mutations result in a loss of expression of the protein, suggesting a correlation between residual expression, and the disease severity. This indicates that protein expression analysis is important for interpreting genetic results when novel variants are found, as well as for complementing clinical assessment by predicting the functional impact. Further analysis is necessary to delineate the clinical presentation of individuals with TBC1D24 pathogenic variants, as well as to develop markers for diagnosis, prognosis, and potential targeted treatments. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  11. Clinical characteristics and distinctiveness of DSM-5 eating disorder diagnoses: findings from a large naturalistic clinical database

    Science.gov (United States)

    2013-01-01

    Background DSM-IV eating disorder (ED) diagnoses have been criticized for lack of clinical utility, diagnostic instability, and over-inclusiveness of the residual category “ED not otherwise specified” (EDNOS). Revisions made in DSM-5 attempt to generate a more scientifically valid and clinically relevant system of ED classification. The aim with the present study was to examine clinical characteristics and distinctiveness of the new DSM-5 ED diagnoses, especially concerning purging disorder (PD). Methods Using a large naturalistic Swedish ED database, 2233 adult women were diagnosed using DSM-5. Initial and 1-year follow-up psychopathology data were analyzed. Measures included the Eating Disorder Examination Questionnaire, Structural Eating Disorder Interview, Clinical Impairment Assessment, Structural Analysis of Social Behavior, Comprehensive Psychiatric Rating Scale, and Structured Clinical Interview for DSM-IV Axis I Disorders. Results Few meaningful differences emerged between anorexia nervosa binge/purge subtype (ANB/P), PD, and bulimia nervosa (BN). Unspecified Feeding and Eating Disorders (UFED) showed significantly less severity compared to other groups. Conclusions PD does not appear to constitute a distinct diagnosis, the distinction between atypical AN and PD requires clarification, and minimum inclusion criteria for UFED are needed. Further sub-classification is unlikely to improve clinical utility. Instead, better delineation of commonalities is important. PMID:24999410

  12. X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

    OpenAIRE

    Hu, H.; Haas, S.A.; Chelly, J.; Van Esch, H.; Raynaud, M.; de Brouwer, A.P.M.; Weinert, S.; Froyen, G.; Frints, S.G.M.; Laumonnier, F.; Zemojtel, T.; Love, M.I.; Richard, H.; Emde, A.K.; Bienek, M.

    2016-01-01

    X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID genes have been identified. Yet, a large number of families mapping to the X-chromosome remained unresolved suggesting that more XLID genes or loci are yet to be identified. Here, we have investigated 405 unresolved families with XLID. We employed massively parallel sequencing of all X-chromosome exons in the index males. The majority of ...

  13. Assessment of family functioning in families of patients on methadone maintenance treatment

    Directory of Open Access Journals (Sweden)

    Marković Jasminka

    2015-01-01

    Full Text Available Addiction has multi-factorial etiopathogenesis. Morbidity risk factors include both individual and social factors. Social factors are considered to be very important, especially at the initial stage of taking the substance. Family and the social environment, with their behavior and social norms, are the primary psychosocial determinants. Family functioning has an impact on both the development and the maintenance of addictions, so it is an important research topic. The aim of this study was to determine if families of drug addicts who are on methadone maintenance treatment differ in the level of functionality from families without addiction problems. The study sample included 100 persons divided into two groups - clinical and control. The clinical group consisted of 50 persons - drug addicts who are on methadone maintenance treatment, whereas the control group consisted of 50 persons without addiction problems. FACES IV and General questionnaire were used as instruments for the control group, and POMPIDU questionnaire for the clinical group. The results show that the families of addicts who are in methadone substitution treatment program vary in the level of functionality compared to families in which there is no problem of addiction and in a way that the families of the control group are more functional. These results in our region confirmed earlier results on the connection between family dysfunction and substance abuse, which may have significant implications in the treatment and prevention programs of addictions.

  14. How Can the Evidence from Global Large-scale Clinical Trials for Cardiovascular Diseases be Improved?

    Directory of Open Access Journals (Sweden)

    Tsutani Kiichiro

    2011-06-01

    Full Text Available Abstract Background Clinical investigations are important for obtaining evidence to improve medical treatment. Large-scale clinical trials with thousands of participants are particularly important for this purpose in cardiovascular diseases. Conducting large-scale clinical trials entails high research costs. This study sought to investigate global trends in large-scale clinical trials in cardiovascular diseases. Findings We searched for trials using clinicaltrials.gov (URL: http://www.clinicaltrials.gov/ using the key words 'cardio' and 'event' in all fields on 10 April, 2010. We then selected trials with 300 or more participants examining cardiovascular diseases. The search revealed 344 trials that met our criteria. Of 344 trials, 71% were randomized controlled trials, 15% involved more than 10,000 participants, and 59% were funded by industry. In RCTs whose results were disclosed, 55% of industry-funded trials and 25% of non-industry funded trials reported statistically significant superiority over control (p = 0.012, 2-sided Fisher's exact test. Conclusions Our findings highlighted concerns regarding potential bias related to funding sources, and that researchers should be aware of the importance of trial information disclosures and conflicts of interest. We should keep considering management and training regarding information disclosures and conflicts of interest for researchers. This could lead to better clinical evidence and further improvements in the development of medical treatment worldwide.

  15. Implementation of a Family Planning Clinic-Based Partner Violence and Reproductive Coercion Intervention: Provider and Patient Perspectives.

    Science.gov (United States)

    Miller, Elizabeth; McCauley, Heather L; Decker, Michele R; Levenson, Rebecca; Zelazny, Sarah; Jones, Kelley A; Anderson, Heather; Silverman, Jay G

    2017-06-01

    Despite multiple calls for clinic-based services to identify and support women victimized by partner violence, screening remains uncommon in family planning clinics. Furthermore, traditional screening, based on disclosure of violence, may miss women who fear reporting their experiences. Strategies that are sensitive to the signs, symptoms and impact of trauma require exploration. In 2011, as part of a cluster randomized controlled trial, staff at 11 Pennsylvania family planning clinics were trained to offer a trauma-informed intervention addressing intimate partner violence and reproductive coercion to all women seeking care, regardless of exposure to violence. The intervention sought to educate women about available resources and harm reduction strategies. In 2013, at the conclusion of the trial, 18 providers, five administrators and 49 patients completed semistructured interviews exploring acceptability of the intervention and barriers to implementation. Consensus and open coding strategies were used to analyze the data. Providers reported that the intervention increased their confidence in discussing intimate partner violence and reproductive coercion. They noted that asking patients to share the educational information with other women facilitated the conversation. Barriers to implementation included lack of time and not having routine reminders to offer the intervention. Patients described how receiving the intervention gave them important information, made them feel supported and less isolated, and empowered them to help others. A universal intervention may be acceptable to providers and patients. However, successful implementation in family planning settings may require attention to system-level factors that providers view as barriers. Copyright © 2017 by the Guttmacher Institute.

  16. 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...

  17. "Imagine a clinical world without family systems thinking": Comment.

    Science.gov (United States)

    Jacobs, Barry J

    2018-06-01

    Comments on an editorial by C. T. Fogarty and L. B. Mauksch (see record 2017-56601-001). The editorial discussed collaborative family health care and the importance of family and social context to yield a comprehensive understanding of health. Jacobs agrees that family systemic thinking is an extremely helpful tool for clinicians, even if there's limited data to prove that. But he also thinks that systemic thinking in and of itself doesn't flatten the health care hierarchy and empower family members. (PsycINFO Database Record (c) 2018 APA, all rights reserved).

  18. X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

    NARCIS (Netherlands)

    Hu, H; Haas, S.A.; Chelly, J.; Esch, H. Van; Raynaud, M.; Brouwer, A.P. de; Weinert, S.; Froyen, G.; Frints, S.G.; Laumonnier, F.; Zemojtel, T.; Love, M.I.; Richard, H.; Emde, A.K.; Bienek, M.; Jensen, C.; Hambrock, M.; Fischer, U.; Langnick, C.; Feldkamp, M.; Wissink-Lindhout, W.; Lebrun, N.; Castelnau, L.; Rucci, J.; Montjean, R.; Dorseuil, O.; Billuart, P.; Stuhlmann, T.; Shaw, M.; Corbett, M.A.; Gardner, A.; Willis-Owen, S.; Tan, C.; Friend, K.L.; Belet, S.; Roozendaal, K.E. van; Jimenez-Pocquet, M.; Moizard, M.P.; Ronce, N.; Sun, R.; O'Keeffe, S.; Chenna, R.; Bommel, A. van; Goke, J.; Hackett, A.; Field, M.; Christie, L.; Boyle, J.; Haan, E.; Nelson, J.; Turner, G.; Baynam, G.; Gillessen-Kaesbach, G.; Muller, U.; Steinberger, D.; Budny, B.; Badura-Stronka, M.; Latos-Bielenska, A.; Ousager, L.B.; Wieacker, P.; Rodriguez Criado, G.; Bondeson, M.L.; Anneren, G.; Dufke, A.; Cohen, M.; Maldergem, L. Van; Vincent-Delorme, C.; Echenne, B.; Simon-Bouy, B.; Kleefstra, T.; Willemsen, M.H.; Fryns, J.P.; Devriendt, K.; Ullmann, R.; Vingron, M.; Wrogemann, K.; Wienker, T.F.; Tzschach, A.; Bokhoven, H. van; Gecz, J.; Jentsch, T.J.; Chen, W.; Ropers, H.H.; Kalscheuer, V.M.

    2016-01-01

    X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID genes have been identified. Yet, a large number of families mapping to the X-chromosome remained unresolved suggesting that more XLID genes or

  19. X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

    DEFF Research Database (Denmark)

    Hu, H; Haas, S A; Chelly, J

    2016-01-01

    X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID genes have been identified. Yet, a large number of families mapping to the X-chromosome remained unresolved suggesting that more XLID genes...

  20. The family health, functioning, social support and child maltreatment risk of families expecting a baby.

    Science.gov (United States)

    Lepistö, Sari; Ellonen, Noora; Helminen, Mika; Paavilainen, Eija

    2017-08-01

    To describe the family health, functioning, social support and child maltreatment risk and associations between them in families expecting a baby. Finland was one of the first countries in banning corporal punishment against children over 30 years ago. Despite of this, studies have shown that parents physically abuse their children. In addition, professionals struggle in intervention of this phenomenon. Abusive parents should be recognised and helped before actual violent behaviour. A follow-up case-control study, with a supportive intervention in the case group (families with a heightened risk) in maternity and child welfare clinics. The baseline results of families are described here. Child maltreatment risk in families expecting a baby was measured by Child Abuse Potential Inventory. The health and functioning was measured by Family Health, Functioning and Social Support Scale. Data included 380 families. A total of 78 families had increased risk for child maltreatment. Heightened risk was associated with partners' age, mothers' education, partners' father's mental health problems, mothers' worry about partners' drinking and mothers' difficulties in talking about the family's problems. Risk was associated with family functioning and health. Families with risk received a less support from maternity clinics. Families with child maltreatment risk and related factors were found. This knowledge can be applied for supporting families both during pregnancy and after the baby is born. Professionals working with families in maternity clinics need tools to recognise families with risk and aid a discussion with them about the family life situation. The Child Abuse Potential, as a part of evaluating the family life situation, seems to prove a useful tool in identifying families at risk. The results offer a valid and useful tool for recognising families with risk and provide knowledge about high-risk family situations. © 2016 John Wiley & Sons Ltd.

  1. Neutrino bi-large mixings and family

    International Nuclear Information System (INIS)

    Bando, Masako; Obara, Midori

    2004-01-01

    After a brief review of quark-lepton relations in grand unified theories (GUT), we show that the Pati-Salam relation with only one type of Higgs field configuration with ''four zero symmetric texture'' can reproduce two large neutrino mixings as well as observed mass differences. This is quite in contrast to the case of SU(5) where bi-large mixings essentially come from the charged lepton sector with non-symmetric charged lepton mass matrix. (author)

  2. The readiness and motivation interview for families (RMI-Family) managing pediatric obesity: study protocol.

    Science.gov (United States)

    Ball, Geoff D C; Spence, Nicholas D; Browne, Nadia E; O'Connor, Kathleen; Srikameswaran, Suja; Zelichowska, Joanna; Ho, Josephine; Gokiert, Rebecca; Mâsse, Louise C; Carson, Valerie; Morrison, Katherine M; Kuk, Jennifer L; Holt, Nicholas L; Kebbe, Maryam; Gehring, Nicole D; Cesar, Melody; Virtanen, Heidi; Geller, Josie

    2017-04-11

    Experts recommend that clinicians assess motivational factors before initiating care for pediatric obesity. Currently, there are no well-established clinical tools available for assessing motivation in youth with obesity or their families. This represents an important gap in knowledge since motivation-related information may shed light on which patients might fail to complete treatment programs. Our study was designed to evaluate the measurement properties and utility of the Readiness and Motivational Interview for Families (RMI-Family), a structured interview that utilizes a motivational interviewing approach to (i) assess motivational factors in youth and their parents, and (ii) examine the degree to which motivation and motivation-related concordance between youth and parents are related to making changes to lifestyle habits for managing obesity in youth. From 2016 to 2020, this prospective study will include youth with obesity (body mass index [BMI] ≥97th percentile; 13-17 years old; n = 250) and their parents (n = 250). The study will be conducted at two primary-level, multidisciplinary obesity management clinics based at children's hospitals in Alberta, Canada. Participants will be recruited and enrolled after referral to these clinics, but prior to initiating clinical care. Each youth and their parent will complete the RMI-Family (~1.5 h) at baseline, and 6- and 12-months post-baseline. Individual (i.e., youth or parent) and family-level (i.e., across youth and parent) responses to interview questions will be scored, as will aspects of interview administration (e.g., fidelity to motivational interviewing tenets). The RMI-Family will also be examined for test-retest reliability. Youth data collected at each time point will include demography, anthropometry, lifestyle habits, psychosocial functioning, and health services utilization. Cross-sectional and longitudinal associations between individual and family-level interview scores on the RMI-Family

  3. [Clinical features and COMP gene mutation in a family with a pseudoachondroplasia child].

    Science.gov (United States)

    Lu, Chun-Ting; Guo, Li; Zahng, Zhan-Hui; Lin, Wei-Xia; Song, Yuan-Zong; Feng, Lie

    2013-11-01

    This study aimed to report the clinical characteristics and COMP gene mutation of a family with pseudoachondroplasia (PSACH), a relatively rare spinal and epiphyseal dysplasia that is inherited as an autosomal dominant trait. Clinical information on a 5-year-2-month-old PSACH child and his parents was collected and analyzed. Diagnosis was confirmed by PCR amplification and direct sequencing of all the 19 exons and their flanking sequences of COMP gene, and the mutation was further ascertained by cloning analysis of exon 10. The child presented with short and stubby fingers, bow leg, short limb dwarfism and metaphysic broadening in long bone as well as lumbar lordosis. A mutation c.1048_1116del (p.Asn350_Asp372del) in exon 10, inherited from his father who did not demonstrate any phenotypic feature of PSACH, was detected in the child. PSACH was diagnosed definitively by means of COMP mutation analysis, on the basis of the child's clinical and imaging features. The non-penetrance phenomenon of COMP mutation was described for the first time in PSACH.

  4. Collaborative research between academia and industry using a large clinical trial database: a case study in Alzheimer's disease

    DEFF Research Database (Denmark)

    Jones, Roy; Wilkinson, David; Lopez, Oscar L

    2011-01-01

    Large clinical trials databases, developed over the course of a comprehensive clinical trial programme, represent an invaluable resource for clinical researchers. Data mining projects sponsored by industry that use these databases, however, are often not viewed favourably in the academic medical...... community because of concerns that commercial, rather than scientific, goals are the primary purpose of such endeavours. Thus, there are few examples of sustained collaboration between leading academic clinical researchers and industry professionals in a large-scale data mining project. We present here...

  5. Guidelines for the clinical management of familial adenomatous polyposis (FAP)

    DEFF Research Database (Denmark)

    Vasen, H.F.; Moslein, G.; Alonso, A.

    2008-01-01

    BACKGROUND: Familial adenomatous polyposis (FAP) is a well-described inherited syndrome, which is responsible for cancer (CRC) cases. The syndrome is characterised by the development of hundreds to thousands of adenomas in the colorectum. Almost all patients will develop CRC...... if they are not identified and treated at an early stage. The syndrome is inherited as an autosomal dominant trait and caused by mutations in the APC gene. Recently, a second gene has been identified that also gives rise to colonic adenomatous polyposis, although the phenotype is less severe than typical FAP. The gene...... is the MUTYH gene and the inheritance is autosomal recessive. In April 2006 and February 2007, a workshop was organised in Mallorca by European experts on hereditary gastrointestinal cancer aiming to establish guidelines for the clinical management of FAP and to initiate collaborative studies. Thirty...

  6. Effectiveness of a strategy that uses educational games to implement clinical practice guidelines among Spanish residents of family and community medicine (e-EDUCAGUIA project): a clinical trial by clusters.

    Science.gov (United States)

    Del Cura-González, Isabel; López-Rodríguez, Juan A; Sanz-Cuesta, Teresa; Rodríguez-Barrientos, Ricardo; Martín-Fernández, Jesús; Ariza-Cardiel, Gloria; Polentinos-Castro, Elena; Román-Crespo, Begoña; Escortell-Mayor, Esperanza; Rico-Blázquez, Milagros; Hernández-Santiago, Virginia; Azcoaga-Lorenzo, Amaya; Ojeda-Ruiz, Elena; González-González, Ana I; Ávila-Tomas, José F; Barrio-Cortés, Jaime; Molero-García, José M; Ferrer-Peña, Raul; Tello-Bernabé, María Eugenia; Trujillo-Martín, Mar

    2016-05-17

    Clinical practice guidelines (CPGs) have been developed with the aim of helping health professionals, patients, and caregivers make decisions about their health care, using the best available evidence. In many cases, incorporation of these recommendations into clinical practice also implies a need for changes in routine clinical practice. Using educational games as a strategy for implementing recommendations among health professionals has been demonstrated to be effective in some studies; however, evidence is still scarce. The primary objective of this study is to assess the effectiveness of a teaching strategy for the implementation of CPGs using educational games (e-learning EDUCAGUIA) to improve knowledge and skills related to clinical decision-making by residents in family medicine. The primary objective will be evaluated at 1 and 6 months after the intervention. The secondary objectives are to identify barriers and facilitators for the use of guidelines by residents of family medicine and to describe the educational strategies used by Spanish teaching units of family and community medicine to encourage implementation of CPGs. We propose a multicenter clinical trial with randomized allocation by clusters of family and community medicine teaching units in Spain. The sample size will be 394 residents (197 in each group), with the teaching units as the randomization unit and the residents comprising the analysis unit. For the intervention, both groups will receive an initial 1-h session on clinical practice guideline use and the usual dissemination strategy by e-mail. The intervention group (e-learning EDUCAGUIA) strategy will consist of educational games with hypothetical clinical scenarios in a virtual environment. The primary outcome will be the score obtained by the residents on evaluation questionnaires for each clinical practice guideline. Other included variables will be the sociodemographic and training variables of the residents and the teaching unit

  7. Measuring clinical trial transparency: an empirical analysis of newly approved drugs and large pharmaceutical companies.

    Science.gov (United States)

    Miller, Jennifer E; Wilenzick, Marc; Ritcey, Nolan; Ross, Joseph S; Mello, Michelle M

    2017-12-05

    To define a series of clinical trial transparency measures and apply them to large pharmaceutical and biotechnology companies and their 2014 FDA-approved drugs. Cross-sectional descriptive analysis of all clinical trials supporting 2014 Food and Drugs Administration (FDA)-approved new drug applications (NDAs) for novel drugs sponsored by large companies. Data from over 45 sources, including Drugs@FDA.gov, ClinicalTrials.gov, corporate and international registries; PubMed, Google Scholar, EMBASE, corporate press releases, Securities and Exchange Commission (SEC) filings and personal communications with drug manufacturers. Trial registration, results reporting, clinical study report (CSR) synopsis sharing, biomedical journal publication, and FDA Amendments Acts (FDAAA) compliance, analysed on the drug level. The FDA approved 19 novel new drugs, sponsored by 11 large companies, involving 553 trials, in 2014. We analysed 505 relevant trials. Per drug, a median of 100% (IQR 86%-100%) of trials in patients were registered, 71% (IQR 57%-100%) reported results or shared a CSR synopsis, 80% (70%-100%) were published and 96% (80%-100%) were publicly available in some form by 13 months after FDA approval. Disclosure rates were lower at FDA approval (65%) and improved significantly by 6 months post FDA approval. Per drug, a median of 100% (IQR 75%-100%) of FDAAA-applicable trials were compliant. Half of reviewed drugs had publicly disclosed results for all trials in patients in our sample. One trial was uniquely registered in a corporate registry, and not ClinicalTrials.gov; 0 trials were uniquely registered in international registries. Among large pharmaceutical companies and new drugs, clinical trial transparency is high based on several standards, although opportunities for improvement remain. Transparency is markedly higher for trials in patients than among all trials supporting drug approval, including trials in healthy volunteers. Ongoing efforts to publicly track

  8. Examining pedagogical practices in family systems nursing: intentionality, complexity, and doing well by families.

    Science.gov (United States)

    Moules, Nancy J; Bell, Janice M; Paton, Brenda I; Morck, Angela C

    2012-05-01

    Teaching graduate family nursing students the important and delicate practice of entering into and mitigating families' illness suffering signifies an educational practice that is rigorous, intense, and contextual, yet not articulated as expounded knowledge. This study examined the pedagogical practices of the advanced practice of Family Systems Nursing (FSN) as taught to master's and doctoral nursing students at the Family Nursing Unit, University of Calgary, using observation of expert and novice clinical practice, live supervision, videotape review, presession hypothesizing, clinical documentation, and the writing of therapeutic letters to families. A triangulation of research methods and data collection strategies, interpretive ethnography, autoethnography, and hermeneutics, were used. Students reported an intensity of learning that had both useful and limiting consequences as they developed skills in therapeutic conversations with families experiencing illness. Faculty used an intentional pedagogical process to encourage growth in perceptual, conceptual, and executive knowledge and skills of working with families.

  9. Waardenburg syndrome type I: Dental phenotypes and genetic analysis of an extended family.

    Science.gov (United States)

    Sólia-Nasser, L; de Aquino, S-N; Paranaíba, L-M R; Gomes, A; Dos-Santos-Neto, P; Coletta, R-D; Cardoso, A-F; Frota, A-C; Martelli-Júnior, H

    2016-05-01

    The aim of this study was to describe the pattern of inheritance and the clinical features in a large family with Waardenburg syndrome type I (WS1), detailing the dental abnormalities and screening for PAX3 mutations. To characterize the pattern of inheritance and clinical features, 29 family members were evaluated by dermatologic, ophthalmologic, otorhinolaryngologic and orofacial examination. Molecular analysis of the PAX3 gene was performed. The pedigree of the family,including the last four generations, was constructed and revealed non-consanguineous marriages. Out of 29 descendants, 16 family members showed features of WS1, with 9 members showing two major criteria indicative of WS1. Five patients showed white forelock and iris hypopigmentation, and four showed dystopia canthorum and iris hypopigmentation. Two patients had hearing loss. Dental abnormalities were identified in three family members, including dental agenesis, conical teeth and taurodontism. Sequencing analysis failed to identify mutations in the PAX3 gene. These results confirm that WS1 was transmitted in this family in an autosomal dominant pattern with variable expressivity and high penetrance. The presence of dental manifestations, especially tooth agenesis and conical teeth which resulted in considerable aesthetic impact on affected individuals was a major clinical feature. This article reveals the presence of well-defined dental changes associated with WS1 and tries to establish a possible association between these two entities showing a new spectrum of WS1.

  10. Mutations in SLC20A2 are a major cause of familial idiopathic basal ganglia calcification

    Science.gov (United States)

    Hsu, Sandy Chan; Sears, Renee L.; Lemos, Roberta R.; Quintáns, Beatriz; Huang, Alden; Spiteri, Elizabeth; Nevarez, Lisette; Mamah, Catherine; Zatz, Mayana; Pierce, Kerrie D.; Fullerton, Janice M.; Adair, John C.; Berner, Jon E.; Bower, Matthew; Brodaty, Henry; Carmona, Olga; Dobricić, Valerija; Fogel, Brent L.; García-Estevez, Daniel; Goldman, Jill; Goudreau, John L.; Hopfer, Suellen; Janković, Milena; Jaumà, Serge; Jen, Joanna C.; Kirdlarp, Suppachok; Klepper, Joerg; Kostić, Vladimir; Lang, Anthony E.; Linglart, Agnès; Maisenbacher, Melissa K.; Manyam, Bala V.; Mazzoni, Pietro; Miedzybrodzka, Zofia; Mitarnun, Witoon; Mitchell, Philip B.; Mueller, Jennifer; Novaković, Ivana; Paucar, Martin; Paulson, Henry; Simpson, Sheila A.; Svenningsson, Per; Tuite, Paul; Vitek, Jerrold; Wetchaphanphesat, Suppachok; Williams, Charles; Yang, Michele; Schofield, Peter R.; de Oliveira, João R. M.; Sobrido, María-Jesús

    2014-01-01

    Familial idiopathic basal ganglia calcification (IBGC) or Fahr’s disease is a rare neurodegenerative disorder characterized by calcium deposits in the basal ganglia and other brain regions, which is associated with neuropsychiatric and motor symptoms. Familial IBGC is genetically heterogeneous and typically transmitted in an autosomal dominant fashion. We performed a mutational analysis of SLC20A2, the first gene found to cause IBGC, to assess its genetic contribution to familial IBGC. We recruited 218 subjects from 29 IBGC-affected families of varied ancestry and collected medical history, neurological exam, and head CT scans to characterize each patient’s disease status. We screened our patient cohort for mutations in SLC20A2. Twelve novel (nonsense, deletions, missense, and splice site) potentially pathogenic variants, one synonymous variant, and one previously reported mutation were identified in 13 families. Variants predicted to be deleterious cosegregated with disease in five families. Three families showed nonsegregation with clinical disease of such variants, but retrospective review of clinical and neuroimaging data strongly suggested previous misclassification. Overall, mutations in SLC20A2 account for as many as 41 % of our familial IBGC cases. Our screen in a large series expands the catalog of SLC20A2 mutations identified to date and demonstrates that mutations in SLC20A2 are a major cause of familial IBGC. Non-perfect segregation patterns of predicted deleterious variants highlight the challenges of phenotypic assessment in this condition with highly variable clinical presentation. PMID:23334463

  11. Diagnosis of dysphagia in the practice of a family doctor (clinical cases.

    Directory of Open Access Journals (Sweden)

    О. A. Rosytska

    2018-05-01

    Full Text Available Dysphagia is an important risk factor for such a serious life-threatening or health-patient complication as aspiration (aspiration pneumonia, dehydration, malnutrition. Prevention of dysphagia in the damage to the nervous system is not possible. However, with the proper evaluation and treatment of disorders that result from dysphagia, it is possible to prevent complications, to take into account this symptom when feeding the patient, carrying out rehabilitation measures and medical treatment. The article presents diagnostic algorithms for the actions of the ge­neral practitioner-family doctor in the detection of dysphagia and clinical cases of this syndrome of different etiology.

  12. Family environment, expressed emotion and adolescent self-harm: a review of conceptual, empirical, cross-cultural and clinical perspectives.

    Science.gov (United States)

    Michelson, Daniel; Bhugra, Dinesh

    2012-04-01

    Self-harm in young people is a complex and pervasive problem with a number of co-existing risk factors. Although research has implicated a range of family variables in understanding the onset, maintenance and prevention of adolescent self-harm, relatively little attention has been given to the expressed emotion (EE) construct. Based on a narrative review and synthesis of peer-reviewed literature up to and including 2011, this paper considers the conceptual background and empirical evidence for the role of family environment in the expression of adolescent self-harm, with a particular focus on EE. The clinical implications of this literature for working with young people and families from different cultures are also addressed. In summary, the surveyed research provides insufficient evidence for a direct causal link between family environment and adolescent self-harm, with questions raised about the temporal sequencing of measured variables, specificity of implicated family risk factors, and the nature and role of protective factors in families. Emerging evidence for an association between high EE and adolescent self-harm requires replication in well-controlled, prospective studies. There is also a lack of empirically-supported, family-based treatment modalities for adolescents who self-harm. Intervention strategies should be guided by personalised formulation, taking into account individual vulnerabilities, strengths and social contexts, as well as cultural norms for family environment.

  13. Nine cases of Alkaptonuria in one family in southern Jordan.

    Science.gov (United States)

    Al-Sbou, Mohammed; Mwafi, Nesrin

    2012-03-01

    Alkaptonuria is a rare autosomal recessive metabolic disorder characterized by a deficiency of homogentisate 1,2-dioxygenase (HGO) in the liver. This results in excretion of large quantities of homogentisic acid (HGA) (also called alkapton) in the urine and a slowly progressive deposition of homogentisic acid and its oxidative product in connective tissues. Clinical characteristic features of alkaptonuria are darkening of urine, bluish-dark pigmentation of connective tissues (ochronosis) and arthritis of large joints and spine. Cardiovascular and genitourinary systems may also be affected. In this report, we present the initial results of screening family members with history of alkaptonuria in southern region of Jordan. We present 9 cases of alkaptonuria (two males and seven females) in one Jordanian family. The history, signs and symptoms, diagnostic techniques and treatment options of alkaptonuria are reviewed in this article.

  14. Homozygous missense mutation in the LMAN2L gene segregates with intellectual disability in a large consanguineous Pakistani family.

    Science.gov (United States)

    Rafiullah, Rafiullah; Aslamkhan, Muhammad; Paramasivam, Nagarajan; Thiel, Christian; Mustafa, Ghulam; Wiemann, Stefan; Schlesner, Matthias; Wade, Rebecca C; Rappold, Gudrun A; Berkel, Simone

    2016-02-01

    Intellectual disability (ID) is a neurodevelopmental disorder affecting 1%-3% of the population worldwide. It is characterised by high phenotypic and genetic heterogeneity and in most cases the underlying cause of the disorder is unknown. In our study we investigated a large consanguineous family from Baluchistan, Pakistan, comprising seven affected individuals with a severe form of autosomal recessive ID (ARID) and epilepsy, to elucidate a putative genetic cause. Whole exome sequencing (WES) of a trio, including a child with ID and epilepsy and its healthy parents that were part of this large family, revealed a homozygous missense variant p.R53Q in the lectin mannose-binding 2-like (LMAN2L) gene. This homozygous variant was co-segregating in the family with the phenotype of severe ID and infantile epilepsy; unaffected family members were heterozygous variant carriers. The variant was predicted to be pathogenic by five different in silico programmes and further three-dimensional structure modelling of the protein suggests that variant p.R53Q may impair protein-protein interaction. LMAN2L (OMIM: 609552) encodes for the lectin, mannose-binding 2-like protein which is a cargo receptor in the endoplasmic reticulum important for glycoprotein transport. Genome-wide association studies have identified an association of LMAN2L to different neuropsychiatric disorders. This is the first report linking LMAN2L to a phenotype of severe ARID and seizures, indicating that the deleterious homozygous p.R53Q variant very likely causes the disorder. 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/

  15. The Caenorhabditis chemoreceptor gene families

    Directory of Open Access Journals (Sweden)

    Robertson Hugh M

    2008-10-01

    Full Text Available Abstract Background Chemoreceptor proteins mediate the first step in the transduction of environmental chemical stimuli, defining the breadth of detection and conferring stimulus specificity. Animal genomes contain families of genes encoding chemoreceptors that mediate taste, olfaction, and pheromone responses. The size and diversity of these families reflect the biology of chemoperception in specific species. Results Based on manual curation and sequence comparisons among putative G-protein-coupled chemoreceptor genes in the nematode Caenorhabditis elegans, we identified approximately 1300 genes and 400 pseudogenes in the 19 largest gene families, most of which fall into larger superfamilies. In the related species C. briggsae and C. remanei, we identified most or all genes in each of the 19 families. For most families, C. elegans has the largest number of genes and C. briggsae the smallest number, suggesting changes in the importance of chemoperception among the species. Protein trees reveal family-specific and species-specific patterns of gene duplication and gene loss. The frequency of strict orthologs varies among the families, from just over 50% in two families to less than 5% in three families. Several families include large species-specific expansions, mostly in C. elegans and C. remanei. Conclusion Chemoreceptor gene families in Caenorhabditis species are large and evolutionarily dynamic as a result of gene duplication and gene loss. These dynamics shape the chemoreceptor gene complements in Caenorhabditis species and define the receptor space available for chemosensory responses. To explain these patterns, we propose the gray pawn hypothesis: individual genes are of little significance, but the aggregate of a large number of diverse genes is required to cover a large phenotype space.

  16. The Caenorhabditis chemoreceptor gene families.

    Science.gov (United States)

    Thomas, James H; Robertson, Hugh M

    2008-10-06

    Chemoreceptor proteins mediate the first step in the transduction of environmental chemical stimuli, defining the breadth of detection and conferring stimulus specificity. Animal genomes contain families of genes encoding chemoreceptors that mediate taste, olfaction, and pheromone responses. The size and diversity of these families reflect the biology of chemoperception in specific species. Based on manual curation and sequence comparisons among putative G-protein-coupled chemoreceptor genes in the nematode Caenorhabditis elegans, we identified approximately 1300 genes and 400 pseudogenes in the 19 largest gene families, most of which fall into larger superfamilies. In the related species C. briggsae and C. remanei, we identified most or all genes in each of the 19 families. For most families, C. elegans has the largest number of genes and C. briggsae the smallest number, suggesting changes in the importance of chemoperception among the species. Protein trees reveal family-specific and species-specific patterns of gene duplication and gene loss. The frequency of strict orthologs varies among the families, from just over 50% in two families to less than 5% in three families. Several families include large species-specific expansions, mostly in C. elegans and C. remanei. Chemoreceptor gene families in Caenorhabditis species are large and evolutionarily dynamic as a result of gene duplication and gene loss. These dynamics shape the chemoreceptor gene complements in Caenorhabditis species and define the receptor space available for chemosensory responses. To explain these patterns, we propose the gray pawn hypothesis: individual genes are of little significance, but the aggregate of a large number of diverse genes is required to cover a large phenotype space.

  17. What Are Women Told When Requesting Family Planning Services at Clinics Associated with Catholic Hospitals? A Mystery Caller Study.

    Science.gov (United States)

    Guiahi, Maryam; Teal, Stephanie B; Swartz, Maryke; Huynh, Sandy; Schiller, Georgia; Sheeder, Jeanelle

    2017-12-01

    Catholic Church directives restrict family planning service provision at Catholic health care institutions. It is unclear whether obstetrics and gynecology clinics that are owned by or have business affiliations with Catholic hospitals offer family planning appointments. Mystery callers phoned 144 clinics nationwide that were found on Catholic hospital websites between December 2014 and February 2016, and requested appointments for birth control generally, copper IUD services specifically, tubal ligation and abortion. Chi-square and Fisher's exact tests assessed potential correlates of appointment availability, and multivariable logistic regressions were computed if bivariate testing suggested multiple correlates. Although 95% of clinics would schedule birth control appointments, smaller proportions would schedule appointments for copper IUDs (68%) or tubal ligation (58%); only 2% would schedule an abortion. Smaller proportions of Catholic-owned than of Catholic-affiliated clinics would schedule appointments for birth control (84% vs. 100%), copper IUDs (4% vs. 97%) and tubal ligation (29% vs. 72%); for birth control and copper IUD services, no other clinic characteristics were related to appointment availability. Multivariable analysis confirmed that tubal ligation appointments were less likely to be offered at Catholic-owned than at Catholic-affiliated clinics (odds ratio. 0.1); location and association with one of the top 10 Catholic health care systems also were significant. Adherence to church directives is inconsistent at Catholic-associated clinics. Women visiting such clinics who want highly effective methods may need to rely on less effective methods or delay method uptake while seeking services elsewhere. Copyright © 2017 by the Guttmacher Institute.

  18. Cognitive and family correlates of current suicidal ideation in children with bipolar disorder.

    Science.gov (United States)

    Weinstein, Sally M; Van Meter, Anna; Katz, Andrea C; Peters, Amy T; West, Amy E

    2015-03-01

    Suicidality among youth with bipolar disorder is an extreme, but largely unaddressed, public health problem. The current study examined the psychosocial characteristics differentiating youth with varying severities of suicidal ideation that may dictate targets for suicide prevention interventions. Participants included 72 youth aged 7-13 (M=9.19, SD=1.61) with DSM-IV-TR bipolar I, II, or NOS and a parent/caregiver. Current suicidal ideation and correlates were assessed at intake, including: demographics and clinical factors (diagnosis, symptom severity, psychiatric comorbidity); child factors (cognitive risk and quality of life); and family factors (parenting stress, family cohesion, and family rigidity). Current ideation was prevalent in this young sample: 41% endorsed any ideation, and 31% endorsed active forms. Depression symptoms, quality of life, hopelessness, self-esteem, and family rigidity differentiated youth with increasing ideation severity. Separate logistic regressions examined all significant child- and family-level factors, controlling for demographic and clinical variables. Greater family rigidity and lower self-esteem remained significant predictors of current planful ideation. Diagnosis, index episode, comorbidity, and mania severity did not differentiate non-ideators from those with current ideation. Limitations include the small sample to examine low base-rate severe ideation, cross-sectional analyses and generalizability of findings beyond the outpatient clinical sample. Findings underscore the importance of assessing and addressing suicidality in preadolescent youth with bipolar disorder, before youth progress to more severe suicidal behaviors. Results also highlight child self-esteem and family rigidity as key treatment targets to reduce suicide risk in pediatric bipolar disorder. Copyright © 2014 Elsevier B.V. All rights reserved.

  19. Autozygosity mapping of a large consanguineous Pakistani family reveals a novel non-syndromic autosomal recessive mental retardation locus on 11p15-tel

    DEFF Research Database (Denmark)

    Rehman, Shoaib ur; Baig, Shahid Mahmood; Eiberg, Hans

    2011-01-01

    done in all sampled individuals in the family. The nuclear central loop in the five generation family showed homozygosity for a 6-Mb telomeric region on 11p15, whereas all other linkage regions were excluded by calculation of logarithm of odds (LOD) for the SNP microarray data. A maximum LOD score of Z......Autosomal recessive inherited mental retardation is an extremely heterogeneous disease and accounts for approximately 25% of all non-syndromic mental retardation cases. Autozygosity mapping of a large consanguineous Pakistani family revealed a novel locus for non-syndromic autosomal recessive...

  20. Family interactions in adoptive compared to nonadoptive families.

    Science.gov (United States)

    Rueter, Martha A; Keyes, Margaret A; Iacono, William G; McGue, Matt

    2009-02-01

    Despite the large and growing numbers of adoptive families, little research describes interactions in families with adopted adolescents. Yet, adopted adolescents' increased risk for adjustment problems, combined with the association between family interactions and adolescent adjustment in nonadoptive families, raises questions about differences in adoptive and nonadoptive family interactions. We compared observed and self-reported family interactions between 284 adoptive and 208 nonadoptive families and within 123 families with 1 adopted and 1 nonadopted adolescent. Adolescents averaged 14.9 years of age. Comparisons were made using analysis of variance incorporating hierarchical linear methods in SAS PROC MIXED to control family-related correlations in the data. Parents and children reported more conflict in adoptive families when compared with nonadoptive families. Families with 1 adopted and 1 nonadopted adolescent reported more conflict between parents and adopted adolescents. Observed parental behavior was similar across adoptive and nonadoptive children although adopted adolescents were less warm and, in families with 2 adopted children, more conflictual than nonadopted adolescents. These findings suggest a need for further investigation of the association between family interactions and adopted adolescent problem behavior. Copyright 2009 APA, all rights reserved.

  1. Rapidly progressive renal disease as part of Wolfram syndrome in a large inbred Turkish family due to a novel WFS1 mutation (p.Leu511Pro).

    Science.gov (United States)

    Yuca, Sevil Ari; Rendtorff, Nanna Dahl; Boulahbel, Houda; Lodahl, Marianne; Tranebjærg, Lisbeth; Cesur, Yasar; Dogan, Murat; Yilmaz, Cahide; Akgun, Cihangir; Acikgoz, Mehmet

    2012-01-01

    Wolfram syndrome, also named "DIDMOAD" (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness), is an inherited association of juvenile-onset diabetes mellitus and optic atrophy as key diagnostic criteria. Renal tract abnormalities and neurodegenerative disorder may occur in the third and fourth decade. The wolframin gene, WFS1, associated with this syndrome, is located on chromosome 4p16.1. Many mutations have been described since the identification of WFS1 as the cause of Wolfram syndrome. We identified a new homozygous WFS1 mutation (c.1532T>C; p.Leu511Pro) causing Wolfram syndrome in a large inbred Turkish family. The patients showed early onset of IDDM, diabetes insipidus, optic atrophy, sensorineural hearing impairment and very rapid progression to renal failure before age 12 in three females. Ectopic expression of the wolframin mutant in HEK cells results in greatly reduced levels of protein expression compared to wild-type wolframin, strongly supporting that this mutation is disease-causing. The mutation showed perfect segregation with disease in the family, characterized by early and severe clinical manifestations. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

  2. Course of Tourette Syndrome and Comorbidities in a Large Prospective Clinical Study

    DEFF Research Database (Denmark)

    Groth, Camilla; Mol Debes, Nanette; Rask, Charlotte Ulrikka

    2017-01-01

    Objective: Tourette syndrome (TS) is a childhood-onset neurodevelopmental disorder characterized by tics and frequent comorbidities. Although tics often improve during adolescence, recent studies suggest that comorbid obsessive-compulsive disorder (OCD) and attention-deficit/hyperactivity disorder...... (ADHD) tend to persist. This large prospective follow-up study describes the clinical course of tics and comorbidities during adolescence and the prevalence of coexisting psychopathologies. Method: The clinical cohort was recruited at the Danish National Tourette Clinic, and data were collected...... at baseline (n = 314, age range 5–19 years) and at follow-up 6 years later (n = 227) to establish the persistence and severity of tics and comorbidities. During follow-up, the Development and Well-Being Assessment (DAWBA) was used to diagnose coexisting psychopathologies. Repeated measures of severity scores...

  3. Parenting, family functioning and anxiety-disordered children: Comparisons to controls, changes after family versus child CBT

    NARCIS (Netherlands)

    Jongerden, L.; Bögels, S.M.

    2015-01-01

    We examined (1) whether families of clinic-referred anxiety-disordered children are characterized by anxiety-enhancing parenting and family functioning, compared to control families; (2) whether family cognitive-behavioral therapy (FCBT) for anxiety-disordered children decreases anxiety-enhancing

  4. Work-family spillover among Japanese dual-earner couples: a large community-based study

    NARCIS (Netherlands)

    Shimada, K.; Shimazu, A.; Bakker, A.B.; Demerouti, E.; Kawakami, N.

    2010-01-01

    Objectives: To examine the effects of multiple types of work-family spillover (work-to-family negative spillover, WFNS; family-to-work negative spillover, FWNS; and work-family positive spillover, WFPS) on psychological distress among Japanese dual-earner couples with preschool children. Methods:

  5. Indonesia's family planning story: success and challenge.

    Science.gov (United States)

    Hull, T H; Hull, V J; Singarimbun, M

    1977-11-01

    A historical overview and descriptions of family planning programs in Indonesia are presented. 85 million of the 135 million inhabitants of the Indonesian archipelago are concentrated on the island of Java, which comprises about 7% of the Indonesian land mass. The Dutch colonial government preferred a policy ("transmigration") which advocated the redistribution of population from Java to the other islands to relieve overpopulation. This policy was also advocated by President Sukarno after the Indonesian Revolution of 1940. The need for family planning was recognized by small groups, and official policy supported national family planning programs to replace transmigration programs only after Sukarno became president in 1966. The focus of the program was on Java and Bali, the 2 most populous islands. Local clinics became the locus for birth control efforts. Fieldworkers affiliated with the clinics were given the job of advocating birth control use door-to-door. Fieldworkers "incentive programs," area "target" (quota) programs, and "special drives" were organized to create new contraceptive "acceptors." A data reporting system and a research program increase the effectiveness of the family planning drive by ascertaining trends in contraceptive use which can determine where and how money and effort can best be applied. "Village Contraception Distribution Centers" bring the contraceptive means closer to the people than do the clinics. Figures from the years 1969-1977 show the great increase in acceptance of contraceptives by the inhabitants of the Java-Bali area. Steps are now being taken to alleviate the large monthly variations in the number of (often temporary) acceptors caused by the "target programs" and "special drives." The average acceptor is 27-years-old, has 2.6 children, has not finished primary school, and has a husband of low social status. Bali has shown the greatest success in family planning. It is a small island with a highly developed system of local

  6. The role of family institutes in promoting the practice of family therapy.

    Science.gov (United States)

    Rampage, Cheryl

    2014-09-01

    Much of the development of family therapy as a discipline was an outcome of the clinical, training, and theory-building activities conducted at family institutes around the United States. Beginning in the 1960s, these institutes were the crucibles in which the concepts and practices of family therapy flourished. The author, a leader at one of the largest family institutes in the United States, discusses the role of family institutes in promoting the practice of family therapy, as well as the challenges of doing so. © 2014 FPI, Inc.

  7. Development and Two-Year Follow-Up Evaluation of a Training Workshop for the Large Preventive Positive Psychology Happy Family Kitchen Project in Hong Kong.

    Directory of Open Access Journals (Sweden)

    Agnes Y Lai

    Full Text Available Evidence-based practice and capacity-building approaches are essential for large-scale health promotion interventions. However, there are few models in the literature to guide and evaluate training of social service workers in community settings. This paper presents the development and evaluation of the "train-the-trainer" workshop (TTT for the first large scale, community-based, family intervention projects, entitled "Happy Family Kitchen Project" (HFK under the FAMILY project, a Hong Kong Jockey Club Initiative for a Harmonious Society. The workshop aimed to enhance social workers' competence and performance in applying positive psychology constructs in their family interventions under HFK to improve family well-being of the community they served. The two-day TTT was developed and implemented by a multidisciplinary team in partnership with community agencies to 50 social workers (64% women. It focused on the enhancement of knowledge, attitude, and practice of five specific positive psychology themes, which were the basis for the subsequent development of the 23 family interventions for 1419 participants. Acceptability and applicability were enhanced by completing a needs assessment prior to the training. The TTT was evaluated by trainees' reactions to the training content and design, changes in learners (trainees and benefits to the service organizations. Focus group interviews to evaluate the workshop at three months after the training, and questionnaire survey at pre-training, immediately after, six months, one year and two years after training were conducted. There were statistically significant increases with large to moderate effect size in perceived knowledge, self-efficacy and practice after training, which sustained to 2-year follow-up. Furthermore, there were statistically significant improvements in family communication and well-being of the participants in the HFK interventions they implemented after training. This paper offers a

  8. Development and Two-Year Follow-Up Evaluation of a Training Workshop for the Large Preventive Positive Psychology Happy Family Kitchen Project in Hong Kong.

    Science.gov (United States)

    Lai, Agnes Y; Mui, Moses W; Wan, Alice; Stewart, Sunita M; Yew, Carol; Lam, Tai-Hing; Chan, Sophia S

    2016-01-01

    Evidence-based practice and capacity-building approaches are essential for large-scale health promotion interventions. However, there are few models in the literature to guide and evaluate training of social service workers in community settings. This paper presents the development and evaluation of the "train-the-trainer" workshop (TTT) for the first large scale, community-based, family intervention projects, entitled "Happy Family Kitchen Project" (HFK) under the FAMILY project, a Hong Kong Jockey Club Initiative for a Harmonious Society. The workshop aimed to enhance social workers' competence and performance in applying positive psychology constructs in their family interventions under HFK to improve family well-being of the community they served. The two-day TTT was developed and implemented by a multidisciplinary team in partnership with community agencies to 50 social workers (64% women). It focused on the enhancement of knowledge, attitude, and practice of five specific positive psychology themes, which were the basis for the subsequent development of the 23 family interventions for 1419 participants. Acceptability and applicability were enhanced by completing a needs assessment prior to the training. The TTT was evaluated by trainees' reactions to the training content and design, changes in learners (trainees) and benefits to the service organizations. Focus group interviews to evaluate the workshop at three months after the training, and questionnaire survey at pre-training, immediately after, six months, one year and two years after training were conducted. There were statistically significant increases with large to moderate effect size in perceived knowledge, self-efficacy and practice after training, which sustained to 2-year follow-up. Furthermore, there were statistically significant improvements in family communication and well-being of the participants in the HFK interventions they implemented after training. This paper offers a practical example

  9. Do Family Responsibilities and a Clinical Versus Research Faculty Position Affect Satisfaction with Career and Work–Life Balance for Medical School Faculty?

    OpenAIRE

    Beckett, Laurel; Nettiksimmons, Jasmine; Howell, Lydia Pleotis; Villablanca, Amparo C.

    2015-01-01

    Background: Balancing career and family obligations poses challenges to medical school faculty and contributes to dissatisfaction and attrition from academics. We examined the relationship between family setting and responsibilities, rank, and career and work–life satisfaction for faculty in a large U.S. medical school.

  10. Large-scale linkage analysis of 1302 affected relative pairs with rheumatoid arthritis

    Science.gov (United States)

    Hamshere, Marian L; Segurado, Ricardo; Moskvina, Valentina; Nikolov, Ivan; Glaser, Beate; Holmans, Peter A

    2007-01-01

    Rheumatoid arthritis is the most common systematic autoimmune disease and its etiology is believed to have both strong genetic and environmental components. We demonstrate the utility of including genetic and clinical phenotypes as covariates within a linkage analysis framework to search for rheumatoid arthritis susceptibility loci. The raw genotypes of 1302 affected relative pairs were combined from four large family-based samples (North American Rheumatoid Arthritis Consortium, United Kingdom, European Consortium on Rheumatoid Arthritis Families, and Canada). The familiality of the clinical phenotypes was assessed. The affected relative pairs were subjected to autosomal multipoint affected relative-pair linkage analysis. Covariates were included in the linkage analysis to take account of heterogeneity within the sample. Evidence of familiality was observed with age at onset (p << 0.001) and rheumatoid factor (RF) IgM (p << 0.001), but not definite erosions (p = 0.21). Genome-wide significant evidence for linkage was observed on chromosome 6. Genome-wide suggestive evidence for linkage was observed on chromosomes 13 and 20 when conditioning on age at onset, chromosome 15 conditional on gender, and chromosome 19 conditional on RF IgM after allowing for multiple testing of covariates. PMID:18466440

  11. A Large-Scale Study of Misophonia.

    Science.gov (United States)

    Rouw, Romke; Erfanian, Mercede

    2018-03-01

    We aim to elucidate misophonia, a condition in which particular sounds elicit disproportionally strong aversive reactions. A large online study extensively surveyed personal, developmental, and clinical characteristics of over 300 misophonics. Most participants indicated that their symptoms started in childhood or early teenage years. Severity of misophonic responses increases over time. One third of participants reported having family members with similar symptoms. Half of our participants reported no comorbid clinical conditions, and the other half reported a variety of conditions. Only posttraumatic stress disorder (PTSD) was related to the severity of the misophonic symptoms. Remarkably, half of the participants reported experiencing euphoric, relaxing, and tingling sensations with particular sounds or sights, a relatively unfamiliar phenomenon called autonomous sensory meridian response (ASMR). It is unlikely that another "real" underlying clinical, psychiatric, or psychological disorder can explain away the misophonia. The possible relationship with PTSD and ASMR warrants further investigation. © 2017 Wiley Periodicals, Inc.

  12. Chronic Disease Management in Family Practice: Clinical Note.

    Science.gov (United States)

    1998-03-01

    disease management in the family practice selling. This paper discusses chronic disease management in the family practice selling....Chronic disease management is the process of evaluating and treating a medical condition or disease state which can not be readily cured so as to...minimize it’s negative impact on the individual. Examples of chronic disease management include the treatment of hypertension, diabetes, osteoporosis

  13. Cbl-family ubiquitin ligases and their recruitment of CIN85 are largely dispensable for epidermal growth factor receptor endocytosis

    Science.gov (United States)

    Ahmad, Gulzar; Mohapatra, Bhopal; Schulte, Nancy A.; Nadeau, Scott; Luan, Haitao; Zutshi, Neha; Tom, Eric; Ortega-Cava, Cesar; Tu, Chun; Sanada, Masashi; Ogawa, Seishi; Toews, Myron L.; Band, Vimla; Band, Hamid

    2014-01-01

    Members of the Casitas B-Lineage Lymphoma (Cbl) family (Cbl, Cbl-b and Cbl-c) of ubiquitin ligases serve as negative regulators of receptor tyrosine kinases (RTKs). An essential role of Cbl-family protein-dependent ubiquitination for efficient ligand-induced lysosomal targeting and degradation is now well-accepted. However, a more proximal role of Cbl and Cbl-b as adapters for CIN85-endophilin recruitment to mediate ligand-induced initial internalization of RTKs is supported by some studies but refuted by others. Overexpression and/or incomplete depletion of Cbl proteins in these studies is likely to have contributed to this dichotomy. To address the role of endogenous Cbl and Cbl-b in the internalization step of RTK endocytic traffic, we established Cbl/Cbl-b double-knockout (DKO) mouse embryonic fibroblasts (MEFs) and demonstrated that these cells lack the expression of both Cbl-family members as well as endophilin A, while they express CIN85. We show that ligand-induced ubiquitination of EGFR, as a prototype RTK, was abolished in DKO MEFs, and EGFR degradation was delayed. These traits were reversed by ectopic human Cbl expression. EGFR endocytosis, assessed using the internalization of 125I-labeled or fluorescent EGF, or of EGFR itself, was largely retained in Cbl/Cbl-b DKO compared to wild type MEFs. EGFR internalization was also largely intact in Cbl/Cbl-b depleted MCF-10A human mammary epithelial cell line. Inducible shRNA-mediated knockdown of CIN85 in wild type or Cbl/Cbl-b DKO MEFs had no impact on EGFR internalization. Our findings, establish that, at physiological expression levels, Cbl, Cbl-b and CIN85 are largely dispensable for EGFR internalization. Our results support the model that Cbl-CIN85-endophilin complex is not required for efficient internalization of EGFR, a prototype RTK. PMID:25449262

  14. Work-family spillover among Japanese dual-earner couples: a large community-based study.

    Science.gov (United States)

    Shimada, Kyoko; Shimazu, Akihito; Bakker, Arnold B; Demerouti, Evangelia; Kawakami, Norito

    2010-01-01

    To examine the effects of multiple types of work-family spillover (work-to-family negative spillover, WFNS; family-to-work negative spillover, FWNS; and work-family positive spillover, WFPS) on psychological distress among Japanese dual-earner couples with preschool children. 2,346 parents completed questionnaires measuring work-family spillover, work- and family-specific variables (i.e., job demands and resources, family demands and resources), and psychological distress. A hierarchical multiple regression analysis was conducted by entering demographic characteristics (gender, age, age of the youngest child, and job contract) in step 1, job demands and resources in step 2, family demands and resources in step 3, work-family spillover in step 4, and three two-way interactions between types of work-family spillover and gender in the final step. Both WFNS and FWNS were positively related to psychological distress after controlling for demographic characteristics and domain specific variables (i.e. job and family demands/resources), and FWNS (β=0.26) had a stronger relation with psychological distress than WFNS (β=0.16). Although WFPS was significantly and negatively related to psychological distress, the relationship was weak (β=-0.05). In addition, two-way interactions of WFNS and FWNS with gender were found; the impact of both WFNS and FWNS on psychological distress is stronger for females than for males. No significant interaction effect was observed between WFPS and gender. In this study of Japanese dual-earner couples with preschool children, work-family negative spillover had a stronger relationship with psychological distress than positive spillover. Gender had a moderating effect on the relationship between negative spillover and psychological distress.

  15. Families living with parental mental illness and their experiences of family interventions.

    Science.gov (United States)

    Afzelius, M; Plantin, L; Östman, M

    2018-03-01

    WHAT IS KNOWN ON THE SUBJECT?: Coping with parental mental illness in families can be challenging for both children and parents. Providing evidence-based family interventions to families where a parent has a mental illness can enhance the relationships in the family. Although psychiatric research has shown that evidence-based family interventions may improve the communication and understanding of parental mental illness, there is a lack in this area of research from an everyday clinical context. WHAT DOES THIS PAPER ADD TO EXISTING KNOWLEDGE?: Our study reinforces the fact that parents with mental illnesses are searching for support from psychiatric services in order to talk to their children about their illness. The finding that under-age children comply when they are told by their parents to join an intervention in psychiatric services supporting the family is something not observed earlier in research. This study once more illuminates the fact that partners of a person with parental mental illness are seldom, in an obvious way, included in family support interventions. WHAT ARE THE IMPLICATIONS FOR PRACTICE?: Psychiatric services, and especially mental health nurses, have an important task in providing families with parental mental illness with support concerning communication with their children and in including the "healthy" partner in family support interventions. Introduction Although research has shown that evidence-based family interventions in research settings improve the communication and understanding of parental mental illness, there is a lack of knowledge about interventions in an everyday clinical context. Aim This study explores how families with parental mental illness experience family interventions in a natural clinical context in psychiatric services. Method Five families with children aged 10-12 were recruited from psychiatric services in southern Sweden and interviewed in a manner inspired by naturalistic inquiry and content analysis. Both

  16. A large and functionally diverse family of Fad2 genes in safflower (Carthamus tinctorius L.

    Directory of Open Access Journals (Sweden)

    Cao Shijiang

    2013-01-01

    Full Text Available Abstract Background The application and nutritional value of vegetable oil is highly dependent on its fatty acid composition, especially the relative proportion of its two major fatty acids, i.e oleic acid and linoleic acid. Microsomal oleoyl phosphatidylcholine desaturase encoded by FAD2 gene is known to introduce a double bond at the Δ12 position of an oleic acid on phosphatidylcholine and convert it to linoleic acid. The known plant FAD2 enzymes are encoded by small gene families consisting of 1-4 members. In addition to the classic oleate Δ12-desaturation activity, functional variants of FAD2 that are capable of undertaking additional or alternative acyl modifications have also been reported in a limited number of plant species. In this study, our objective was to identify FAD2 genes from safflower and analyse their differential expression profile and potentially diversified functionality. Results We report here the characterization and functional expression of an exceptionally large FAD2 gene family from safflower, and the temporal and spatial expression profiles of these genes as revealed through Real-Time quantitative PCR. The diversified functionalities of some of the safflower FAD2 gene family members were demonstrated by ectopic expression in yeast and transient expression in Nicotiana benthamiana leaves. CtFAD2-1 and CtFAD2-10 were demonstrated to be oleate desaturases specifically expressed in developing seeds and flower head, respectively, while CtFAD2-2 appears to have relatively low oleate desaturation activity throughout the plant. CtFAD2-5 and CtFAD2-8 are specifically expressed in root tissues, while CtFAD2-3, 4, 6, 7 are mostly expressed in the cotyledons and hypocotyls in young safflower seedlings. CtFAD2-9 was found to encode a novel desaturase operating on C16:1 substrate. CtFAD2-11 is a tri-functional enzyme able to introduce a carbon double bond in either cis or trans configuration, or a carbon triple (acetylenic bond

  17. Emotional Lability in Children and Adolescents with Attention Deficit/Hyperactivity Disorder (ADHD): Clinical Correlates and Familial Prevalence

    Science.gov (United States)

    Sobanski, Esther; Banaschewski, Tobias; Asherson, Philip; Buitelaar, Jan; Chen, Wai; Franke, Barbara; Holtmann, Martin; Krumm, Bertram; Sergeant, Joseph; Sonuga-Barke, Edmund; Stringaris, Argyris; Taylor, Eric; Anney, Richard; Ebstein, Richard P.; Gill, Michael; Miranda, Ana; Mulas, Fernando; Oades, Robert D.; Roeyers, Herbert; Rothenberger, Aribert; Steinhausen, Hans-Christoph; Faraone, Stephen V.

    2010-01-01

    Background: The goal of this study was to investigate the occurrence, severity and clinical correlates of emotional lability (EL) in children with attention deficit/hyperactivity disorder (ADHD), and to examine factors contributing to EL and familiality of EL in youth with ADHD. Methods: One thousand, one hundred and eighty-six children with ADHD…

  18. Familial history of diabetes and clinical characteristics in Greek subjects with type 2 diabetes.

    Science.gov (United States)

    Papazafiropoulou, Athanasia; Sotiropoulos, Alexios; Skliros, Eystathios; Kardara, Marina; Kokolaki, Anthi; Apostolou, Ourania; Pappas, Stavros

    2009-04-27

    A lot of studies have showed an excess maternal transmission of type 2 diabetes (T2D). The aim, therefore, of the present study was to estimate the prevalence of familial history of T2D in Greek patients, and to evaluate its potential effect on the patient's metabolic control and the presence of diabetic complications. A total of 1,473 T2D patients were recruited. Those with diabetic mothers, diabetic fathers, diabetic relatives other than parents and no known diabetic relatives, were considered separately. The prevalence of diabetes in the mother, the father and relatives other than parents, was 27.7, 11.0 and 10.7%, respectively. Patients with paternal diabetes had a higher prevalence of hypertension (64.8 vs. 57.1%, P = 0.05) and lower LDL-cholesterol levels (115.12 +/- 39.76 vs. 127.13 +/- 46.53 mg/dl, P = 0.006) than patients with diabetes in the mother. Patients with familial diabetes were significantly younger (P Greek diabetic patients. However, no different influence was found between maternal and paternal diabetes on the clinical characteristics of diabetic patients except for LDL-cholesterol levels and presence of hypertension. The presence of a family history of diabetes resulted to an early onset of the disease to the offspring.

  19. Maternal intrusiveness, family financial means, and anxiety across childhood in a large multiphase sample of community youth

    Science.gov (United States)

    Cooper-Vince, Christine E.; Pincus, Donna B.; Comer, Jonathan S.

    2013-01-01

    Intrusive parenting has been positively associated with child anxiety, although examinations of this relationship to date have been largely confined to middle to upper middle class families and have rarely used longitudinal designs. With several leading interventions for child anxiety emphasizing the reduction of parental intrusiveness, it is critical to determine whether the links between parental intrusiveness and child anxiety broadly apply to families of all financial means, and whether parental intrusiveness prospectively predicts the development of child anxiety. This study employed latent growth curve analysis to evaluate the interactive effects of maternal intrusiveness and financial means on the developmental trajectory of child anxiety from 1st grade to age 15 in 1,121 children (50.7% male) and their parents from the NICHD SECCYD. The overall model was found to provide good fit, revealing that early maternal intrusiveness and financial means did not impact individual trajectories of change in child anxiety, which were stable from 1st to 5th grade, and then decrease from 5th grade to age 15. Cross-sectional analyses also examined whether family financial means moderated contemporaneous relationships between maternal intrusiveness and child anxiety in 3rd and 5th grades. The relationship between maternal intrusiveness and child anxiety was moderated by family financial means for 1st graders, with stronger links found among children of lower family financial means, but not for 3rd and 5th graders. Neither maternal intrusiveness nor financial means in 1st grade predicted subsequent changes in anxiety across childhood. Findings help elucidate for whom and when maternal intrusiveness has the greatest link with child anxiety and can inform targeted treatment efforts. PMID:23929005

  20. Family accommodation of anxiety symptoms in youth undergoing intensive multimodal treatment for anxiety disorders and obsessive-compulsive disorder: Nature, clinical correlates, and treatment response.

    Science.gov (United States)

    La Buissonnière-Ariza, Valérie; Schneider, Sophie C; Højgaard, Davíð; Kay, Brian C; Riemann, Bradley C; Eken, Stephanie C; Lake, Peter; Nadeau, Joshua M; Storch, Eric A

    2018-01-01

    Family accommodation is associated with a range of clinical features including symptom severity, functional impairment, and treatment response. However, most previous studies in children and adolescents investigated family accommodation in samples of youth with obsessive-compulsive disorder (OCD) or anxiety disorders receiving non-intensive outpatient services. In this study, we aimed to investigate family accommodation of anxiety symptoms in a sample of youth with clinical anxiety levels undergoing an intensive multimodal intervention for anxiety disorders or OCD. We first assessed the internal consistency of the Family Accommodation Scale - Anxiety (FASA). We next examined family accommodation presentation and correlates. The FASA showed high internal consistency for all subscales and total score, and good item and subscale correlations with the total score. All parents reported at least mild accommodation, and the mean levels of family accommodation were particularly high. Child age, anxiety severity, and comorbid depressive symptoms predicted baseline accommodation. However, the association between anxiety severity and family accommodation no longer remained significant after adding the other factors to the model. In addition, family accommodation partially mediated the relationship between anxiety severity and functional impairment. Finally, post-treatment changes in family accommodation predicted changes in symptom severity and functional impairment. These findings suggest the FASA is an appropriate tool to assess family accommodation in intensive treatment samples. Further, they underline the importance of addressing family accommodation in this population given the particularly high levels of accommodating behaviors and the evidence for adverse outcomes associated with this feature. Copyright © 2017 Elsevier Inc. All rights reserved.

  1. Preventive health services implemented by family physicians in Portugal—a cross-sectional study based on two clinical scenarios

    Science.gov (United States)

    Martins, Carlos; Azevedo, Luís Filipe; Santos, Cristina; Sá, Luísa; Santos, Paulo; Couto, Maria; Pereira, Altamiro; Hespanhol, Alberto

    2014-01-01

    Objectives To assess whether Portuguese family physicians perform preventive health services in accordance with scientific evidence, based on the recommendations of the United States Preventive Services Task Force (USPSTF). Design Cross-sectional study. Setting Primary healthcare, Portuguese National Health Service. Participants 255 Portuguese family physicians selected by a stratified cluster sampling design were invited to participate in a computer-assisted telephone survey. Outcomes Prevalence of compliance with USPSTF recommendations for screening, given a male and female clinical scenario and a set of proposed medical interventions, including frequency of the intervention and performance in their own daily practice. Results A response rate of 95.7% was obtained (n=244). 98–100% of family physicians answered according to the USPSTF recommendations in most interventions. In the male scenario, the lowest concordance was observed in the evaluation of prostate-specific antigen with 37% of family physicians answering according to the USPSTF recommendations. In the female scenario, the lowest concordance was for cholesterol testing with 2% of family physicians complying. Family physicians younger than 50 years had significantly better compliance scores than older ones (mean 77% vs 72%; p<0.001). Conclusions We found a high degree of agreement with USPSTF recommendations among Portuguese family physicians. However, we also found results suggesting excessive use of some medical interventions, raising concerns related to possible harm associated with overdiagnosis and overtreatment. PMID:24861550

  2. Health care professionals' experience, understanding and perception of need of advanced cancer patients with cachexia and their families: The benefits of a dedicated clinic.

    Science.gov (United States)

    Scott, David; Reid, Joanne; Hudson, Peter; Martin, Peter; Porter, Sam

    2016-12-30

    Cachexia is defined as the on-going loss of skeletal muscle mass that cannot be fully reversed by conventional nutritional support. It is found in up to 80% of patients with advanced cancer and has profound psycho-social consequences for patients and their families. Previous studies demonstrate that many healthcare professionals receive little formal education in cachexia management leading them to feel that they have limited understanding of the syndrome and cannot intervene effectively. This study aims to examine the value of a dedicated cachexia clinic and its influence on staff understanding and practice. An exploratory qualitative study was conducted. The study employed semi-structured interviews with a range of healthcare professionals responsible for designing and delivering cancer care in a large teaching hospital in Australia. This hospital had a dedicated cachexia clinic. In-depth interviews were conducted with 8 healthcare professionals and senior managers. Four themes were identified: formal and informal education; knowledge and understanding; truth telling in cachexia and palliative care; and, a multi-disciplinary approach. Findings show that improved knowledge and understanding across a staff body can lead to enhanced staff confidence and a willingness to address cancer cachexia and its consequences with patients and their families. Comparisons with similar previous research demonstrate the advantages of providing a structure for staff to gain knowledge about cachexia and how this can contribute to feelings of improved understanding and confidence necessary to respond to the challenge of cachexia.

  3. Endocrine neoplasms in familial syndromes of hyperparathyroidism.

    Science.gov (United States)

    Li, Yulong; Simonds, William F

    2016-06-01

    Familial syndromes of hyperparathyroidism, including multiple endocrine neoplasia type 1 (MEN1), multiple endocrine neoplasia type 2A (MEN2A), and the hyperparathyroidism-jaw tumor (HPT-JT), comprise 2-5% of primary hyperparathyroidism cases. Familial syndromes of hyperparathyroidism are also associated with a range of endocrine and nonendocrine tumors, including potential malignancies. Complications of the associated neoplasms are the major causes of morbidities and mortalities in these familial syndromes, e.g., parathyroid carcinoma in HPT-JT syndrome; thymic, bronchial, and enteropancreatic neuroendocrine tumors in MEN1; and medullary thyroid cancer and pheochromocytoma in MEN2A. Because of the different underlying mechanisms of neoplasia, these familial tumors may have different characteristics compared with their sporadic counterparts. Large-scale clinical trials are frequently lacking due to the rarity of these diseases. With technological advances and the development of new medications, the natural history, diagnosis, and management of these syndromes are also evolving. In this article, we summarize the recent knowledge on endocrine neoplasms in three familial hyperparathyroidism syndromes, with an emphasis on disease characteristics, molecular pathogenesis, recent developments in biochemical and radiological evaluation, and expert opinions on surgical and medical therapies. Because these familial hyperparathyroidism syndromes are associated with a wide variety of tumors in different organs, this review is focused on those endocrine neoplasms with malignant potential. © 2016 Society for Endocrinology.

  4. Working mothers: Family-work conflict, job performance and family/work variables

    OpenAIRE

    Cynthia J Patel; Vasanthee Govender; Zubeda Paruk; Sarojini Ramgoon

    2006-01-01

    The present study examined the relationship between family-work conflict, job performance and selected work and family characteristics in a sample of working mothers employed at a large retail organization. The hypothesis of a negative relationship between family-work conflict and job performance was rejected. Married women reported significantly higher family-work conflict than unmarried women, while women in the highest work category gained the highest job performance rating. More than half...

  5. A novel HSF4 gene mutation (p.R405X causing autosomal recessive congenital cataracts in a large consanguineous family from Pakistan

    Directory of Open Access Journals (Sweden)

    Cheema Abdul

    2008-11-01

    Full Text Available Abstract Background Hereditary cataracts are most frequently inherited as autosomal dominant traits, but can also be inherited in an autosomal recessive or X-linked fashion. To date, 12 loci for autosomal recessive cataracts have been mapped including a locus on chromosome 16q22 containing the disease-causing gene HSF4 (Genbank accession number NM_001040667. Here, we describe a family from Pakistan with the first nonsense mutation in HSF4 thus expanding the mutational spectrum of this heat shock transcription factor gene. Methods A large consanguineous Pakistani family with autosomal recessive cataracts was collected from Quetta. Genetic linkage analysis was performed for the common known autosomal recessive cataracts loci and linkage to a locus containing HSF4 (OMIM 602438 was found. All exons and adjacent splice sites of the heat shock transcription factor 4 gene (HSF4 were sequenced. A mutation-specific restriction enzyme digest (HphI was performed for all family members and unrelated controls. Results The disease phenotype perfectly co-segregated with markers flanking the known cataract gene HSF4, whereas other autosomal recessive loci were excluded. A maximum two-point LOD score with a Zmax = 5.6 at θ = 0 was obtained for D16S421. Direct sequencing of HSF4 revealed the nucleotide exchange c.1213C > T in this family predicting an arginine to stop codon exchange (p.R405X. Conclusion We identified the first nonsense mutation (p.R405X in exon 11 of HSF4 in a large consanguineous Pakistani family with autosomal recessive cataract.

  6. Application of a sensitive collection heuristic for very large protein families: Evolutionary relationship between adipose triglyceride lipase (ATGL and classic mammalian lipases

    Directory of Open Access Journals (Sweden)

    Berezovsky Igor

    2006-03-01

    Full Text Available Abstract Background Manually finding subtle yet statistically significant links to distantly related homologues becomes practically impossible for very populated protein families due to the sheer number of similarity searches to be invoked and analyzed. The unclear evolutionary relationship between classical mammalian lipases and the recently discovered human adipose triglyceride lipase (ATGL; a patatin family member is an exemplary case for such a problem. Results We describe an unsupervised, sensitive sequence segment collection heuristic suitable for assembling very large protein families. It is based on fan-like expanding, iterative database searches. To prevent inclusion of unrelated hits, additional criteria are introduced: minimal alignment length and overlap with starting sequence segments, finding starting sequences in reciprocal searches, automated filtering for compositional bias and repetitive patterns. This heuristic was implemented as FAMILYSEARCHER in the ANNIE sequence analysis environment and applied to search for protein links between the classical lipase family and the patatin-like group. Conclusion The FAMILYSEARCHER is an efficient tool for tracing distant evolutionary relationships involving large protein families. Although classical lipases and ATGL have no obvious sequence similarity and differ with regard to fold and catalytic mechanism, homology links detected with FAMILYSEARCHER show that they are evolutionarily related. The conserved sequence parts can be narrowed down to an ancestral core module consisting of three β-strands, one α-helix and a turn containing the typical nucleophilic serine. Moreover, this ancestral module also appears in numerous enzymes with various substrate specificities, but that critically rely on nucleophilic attack mechanisms.

  7. The family assessment device: an update.

    Science.gov (United States)

    Mansfield, Abigail K; Keitner, Gabor I; Dealy, Jennifer

    2015-03-01

    The current study set out to describe family functioning scores of a contemporary community sample, using the Family Assessment Device (FAD), and to compare this to a currently help-seeking sample. The community sample consisted of 151 families who completed the FAD. The help-seeking sample consisted of 46 families who completed the FAD at their first family therapy appointment as part of their standard care at an outpatient family therapy clinic at an urban hospital. Findings suggest that FAD means from the contemporary community sample indicate satisfaction with family functioning, while FAD scores from the help-seeking sample indicate dissatisfaction with family functioning. In addition, the General Functioning scale of the FAD continues to correlate highly with all other FAD scales, except Behavior Control. The cut-off scores for the FAD indicating satisfaction or dissatisfaction by family members with their family functioning continue to be relevant and the FAD continues to be a useful tool to assess family functioning in both clinical and research contexts. © 2014 Family Process Institute.

  8. Clinical heterogeneity in a family with DKC1 mutation, dyskeratosis congenita and Hoyeraal-Hreidarsson syndrome in first cousins

    Directory of Open Access Journals (Sweden)

    Cristina Olivieri

    2017-10-01

    Full Text Available Dyskeratosis congenita (DC is an inherited bone marrow failure disorder characterized by mucocutaneous features (skin pigmentation, nail dystrophy and oral leukoplakia, pulmonary fibrosis, hematologic and solid malignancies. Its severe form, recognized as Hoyeraal-Hreidarsson syndrome (HHS, also includes cerebellar hypoplasia, microcephaly, developmental delay and prenatal growth retardation. In literature phenotypic variability among DC patients sharing the same mutation is wellknown. To our knowledge this report describes for the first time a family of DC patients, characterized by a member with features of classic DC and another one with some features of HHS, both with the same mutation in DKC1. Our family confirms again that one mutation can be associated with different phenotypes and different hematological manifestations. It’s possible to speculate that there are likely to be patients who do not clinically fit neatly into either classical DC or HHS, but whose clinical features are due to mutations in DKC1 or in genes responsible for autosomal DC/HHS.

  9. Clinical heterogeneity in Fabry disease

    Directory of Open Access Journals (Sweden)

    G. N. Salogub

    2015-01-01

    Full Text Available Fabry disease is an X-linked, lysosomal storage disease (OMIM: 301500, caused by α-galactosidase A deficiency, resulting in accumulation of its substrates, glycosphingolipids, primarily – globotriaosylceramide, in the lysosomes of multiple cell types with multi-system clinical manifestations, even within the same family, including abnormalities of the central and peripheral nervous system, kidneys, heart, gastrointestinal tract, lungs, organ of vision. Clinical heterogeneity is often the reason of the delayed diagnosis. Nowadays enzyme replacement therapy has proved its efficiency in the treatment of Fabry disease. Including Fabry disease in the differential diagnosis of a large range of disorders is important because of its wide clinical heterogeneity and the possibility of an earlier intervention with a beneficial treatment.

  10. Students do not reduce patient satisfaction in a family medicine clinic as measured by a nationally used patient satisfaction instrument.

    Science.gov (United States)

    Speicher, Mark R; Sterrenberg, Timothy R

    2015-03-01

    Patient satisfaction surveys are widely used to give physicians feedback on their treatment of patients, included in physician performance evaluation and payment, and correlated with better health outcomes. Our research uses industry-standard satisfaction measures to gauge the impact on patient satisfaction of having students involved in a patient's medical care at the family medicine clinic of a large southwestern osteopathic medical school. A retrospective cohort study was conducted using the Press-Ganey Survey, a national survey commonly used by hospitals and clinics. The survey was modified to indicate the presence of a learner in the patient's treatment room. The survey provided data on patient satisfaction with the office, the visit, and the care received. Overall, 730 survey responses were used in the study, 434 from patients with whose visit included a student. There were no statistically significant differences in patient satisfaction scores, including overall satisfaction with the visit. Our findings indicate that student doctors do not decrease patient satisfaction and that satisfaction scores may be useful in student evaluations. This finding should encourage outpatient physicians who teach medical students that their patient satisfaction scores on the most widely used patient satisfaction survey will not be impacted by teaching students.

  11. Familial Dilated Cardiomyopathy Caused by a Novel Frameshift in the BAG3 Gene.

    Directory of Open Access Journals (Sweden)

    Rocio Toro

    Full Text Available Dilated cardiomyopathy, a major cause of chronic heart failure and cardiac transplantation, is characterized by left ventricular or biventricular heart dilatation. In nearly 50% of cases the pathology is inherited, and more than 60 genes have been reported as disease-causing. However, in 30% of familial cases the mutation remains unidentified even after comprehensive genetic analysis. This study clinically and genetically assessed a large Spanish family affected by dilated cardiomyopathy to search for novel variations.Our study included a total of 100 family members. Clinical assessment was performed in alive, and genetic analysis was also performed in alive and 1 deceased relative. Genetic screening included resequencing of 55 genes associated with sudden cardiac death, and Sanger sequencing of main disease-associated genes. Genetic analysis identified a frame-shift variation in BAG3 (p.H243Tfr*64 in 32 patients. Genotype-phenotype correlation identified substantial heterogeneity in disease expression. Of 32 genetic carriers (one deceased, 21 relatives were clinically affected, and 10 were asymptomatic. Seventeen of the symptomatic genetic carriers exhibited proto-diastolic septal knock by echocardiographic assessment.We report p.H243Tfr*64_BAG3 as a novel pathogenic variation responsible for familial dilated cardiomyopathy. This variation correlates with a more severe phenotype of the disease, mainly in younger individuals. Genetic analysis in families, even asymptomatic individuals, enables early identification of individuals at risk and allows implementation of preventive measures.

  12. Implications of the Small Spin Changes Measured for Large Jupiter-Family Comet Nuclei

    Science.gov (United States)

    Kokotanekova, R.; Snodgrass, C.; Lacerda, P.; Green, S. F.; Nikolov, P.; Bonev, T.

    2018-06-01

    Rotational spin-up due to outgassing of comet nuclei has been identified as a possible mechanism for considerable mass-loss and splitting. We report a search for spin changes for three large Jupiter-family comets (JFCs): 14P/Wolf, 143P/Kowal-Mrkos, and 162P/Siding Spring. None of the three comets has detectable period changes, and we set conservative upper limits of 4.2 (14P), 6.6 (143P) and 25 (162P) minutes per orbit. Comparing these results with all eight other JFCs with measured rotational changes, we deduce that none of the observed large JFCs experiences significant spin changes. This suggests that large comet nuclei are less likely to undergo rotationally-driven splitting, and therefore more likely to survive more perihelion passages than smaller nuclei. We find supporting evidence for this hypothesis in the cumulative size distributions of JFCs and dormant comets, as well as in recent numerical studies of cometary orbital dynamics. We added 143P to the sample of 13 other JFCs with known albedos and phase-function slopes. This sample shows a possible correlation of increasing phase-function slopes for larger geometric albedos. Partly based on findings from recent space missions to JFCs, we hypothesise that this correlation corresponds to an evolutionary trend for JFCs. We propose that newly activated JFCs have larger albedos and steeper phase functions, which gradually decrease due to sublimation-driven erosion. If confirmed, this could be used to analyse surface erosion from ground and to distinguish between dormant comets and asteroids.

  13. Clinical radiological correlation in E200K familial Creutzfeldt-Jakob disease.

    Science.gov (United States)

    Cohen, Oren S; Chapman, Joab; Korczyn, Amos D; Siaw, Oliver L; Warman-Alaluf, Naama; Nitsan, Zeev; Appel, Shmuel; Kahana, Esther; Rosenmann, Hanna; Hoffmann, Chen

    2016-12-01

    The use of diffusion MRI improved the accuracy of diagnosis in Creutzfeldt-Jakob disease (CJD) and expanded our knowledge of the changes occurring in the brain during the disease. The aim of this study was to test whether in patients with E200K familial CJD (fCJD) the clinical severity correlates with the disease burden as reflected by the extent of cortical involvement in DWI MRI. Consecutive fCJD patients were examined by a neurologist who performed several tests including the CJD neurological scale (CJD-NS), MiniMental status examination (MMSE), Frontal Assessment Battery (FAB), NIH Stroke Scale (NIHSS), and the expanded disability status scale (EDSS). A simultaneously acquired MRI was analyzed by measuring the extent of cortical involvement in the DWI axial sequence. Correlations were tested for using Pearson test. Fifty-two fCJD patients (35 males, mean age 59.4 ± 5.7 years) were recruited to the study. Significant negative correlation was found between the extent of cortical involvement and the cognitive performance of the patients as reflected by their MMSE and FAB scores. In addition, a significant positive correlation was found between the MRI and the clinical disease severity scales CJD-NS and EDSS. The correlation between clinical scales of severity and cognitive dysfunction and the disease burden confirms the reliability of the CJD-NS scale. Further studies are warranted to examine whether MRI may serve not only for diagnosis but also as a biomarker for follow-up of disease progression and the efficacy of potential treatments.

  14. Non-fistulous urinary leakage among women attending a Nigerian family planning clinic

    Directory of Open Access Journals (Sweden)

    Ijaiya MA

    2011-12-01

    Full Text Available Munir'deen A Ijaiya1, Hadijat O Raji1, Abiodun P Aboyeji1, Kike T Adesina1, Idowu O Adebara2, Grace G Ezeoke11Department of Obstetrics and Gynaecology, University of Ilorin Teaching Hospital, Ilorin, Nigeria; 2Department of Obstetrics and Gynaecology, Federal Medical Centre, Ido-Ekiti, NigeriaAbstract: Urinary leakage is an important gynecological challenge, which has a substantial impact on quality of life. The aim of this study was to determine the prevalence and types of non-fistulous urinary leakage among women attending the family planning clinic of the University of Ilorin teaching hospital, Ilorin, Nigeria. The study was a cross-sectional study carried out between January 3 and April 25 2009. One hundred and two women experienced urinary leakage out of 333 women interviewed, giving a prevalence rate of 30.6%. Stress incontinence was the most common urinary leakage (prevalence rate 12.0%. This is followed by urge incontinence (10.8%, urinary incontinence (4.8%, and overflow incontinence (3.0%. None of the women afflicted sought medical help. Conclusively, this study has demonstrated that non-fistulous urinary leakage is a common problem among women of reproductive age in this environment.Keywords: non-fistulous urinary leakage, family planning, women, prevalence, types

  15. Melanotic MiT family translocation neoplasms: Expanding the clinical and molecular spectrum of this unique entity of tumors.

    Science.gov (United States)

    Saleeb, Rola M; Srigley, John R; Sweet, Joan; Doucet, Cedric; Royal, Virginie; Chen, Ying-Bei; Brimo, Fadi; Evans, Andrew

    2017-11-01

    MiT family translocation tumors are a group of neoplasms characterized by translocations involving MiT family transcription factors. The translocation renal cell carcinomas, TFE3 (Xp11.2) and TFEB (t6;11) are known members of this family. Melanotic Xp11 translocation renal cancer is a more recently described entity. To date only 14 cases have been described. It is characterized by a distinct set of features including a nested epithelioid morphology, melanin pigmentation, labeling for markers of melanocytic differentiation, lack of labeling for markers of renal tubular differentiation, predominance in a younger age population and association with aggressive clinical behavior. There are noted similarities between that entity and TFE3 associated PEComas. There are no cases reported of equivalent melanotic TFEB translocation renal cancer. We report 2 rare cases of melanotic translocation renal neoplasms. The first is a melanotic TFE3 translocation renal cancer with an indolent clinical course, occurring in a patient more than 3-decades older than the usual average age in which such tumors have been described. The other case is, to our knowledge, the first reported melanotic TFEB translocation cancer of the kidney. Both cases exhibit the same H&E morphology as previously reported in melanotic translocation renal cancers and label accordingly with HMB45 and Melan-A. While the TFE3 melanotic tumor lacked any evidence of renal tubular differentiation, the TFEB melanotic cancer exhibited some staining for renal tubular markers. Based on the unique features noted above, these two cases expand the clinical and molecular spectrum of the melanotic translocation renal cancers. Copyright © 2017 Elsevier GmbH. All rights reserved.

  16. Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein C gene.

    Science.gov (United States)

    Charron, P; Dubourg, O; Desnos, M; Bennaceur, M; Carrier, L; Camproux, A C; Isnard, R; Hagege, A; Langlard, J M; Bonne, G; Richard, P; Hainque, B; Bouhour, J B; Schwartz, K; Komajda, M

    1998-06-09

    Little information is available on phenotype-genotype correlations in familial hypertrophic cardiomyopathy that are related to the cardiac myosin binding protein C (MYBPC3) gene. The aim of this study was to perform this type of analysis. We studied 76 genetically affected subjects from nine families with seven recently identified mutations (SASint20, SDSint7, SDSint23, branch point int23, Glu542Gln, a deletion in exon 25, and a duplication/deletion in exon 33) in the MYBPC3 gene. Detailed clinical, ECG, and echocardiographic parameters were analyzed. An intergene analysis was performed by comparing the MYBPC3 group to seven mutations in the beta-myosin heavy-chain gene (beta-MHC) group (n=52). There was no significant phenotypic difference among the different mutations in the MYBPC3 gene. However, in the MYBPC3 group compared with the beta-MHC group, (1) prognosis was significantly better (P<0.0001), and no deaths occurred before the age of 40 years; (2) the age at onset of symptoms was delayed (41+/-19 versus 35+/-17 years, P<0.002); and (3) before 30 years of age, the phenotype was particularly mild because penetrance was low (41% versus 62%), maximal wall thicknesses lower (12+/-4 versus 16+/-7 mm, P<0.03), and abnormal T waves less frequent (9% versus 45%, P<0.02). These results are consistent with specific clinical features related to the MYBPC3 gene: onset of the disease appears delayed and the prognosis is better than that associated with the beta-MHC gene. These findings could be particularly important for the purpose of clinical management and genetic counseling in familial hypertrophic cardiomyopathy.

  17. Xeroderma Pigmentosum - A Family

    Directory of Open Access Journals (Sweden)

    Garg Anush

    2000-01-01

    Full Text Available A family of xeroderma pigmentosum is reported. Four children of different ages were afflicted with varying clinical presentation. Sequential development and progression of the disease from freckling to malignancy within the family are discussed.

  18. Preliminary study of family accommodation in youth with autism spectrum disorders and anxiety: Incidence, clinical correlates, and behavioral treatment response.

    Science.gov (United States)

    Storch, Eric A; Zavrou, Sophia; Collier, Amanda B; Ung, Danielle; Arnold, Elysse B; Mutch, P Jane; Lewin, Adam B; Murphy, Tanya K

    2015-08-01

    Anxiety symptoms are common in youth with autism spectrum disorders (ASD) and directly associated with symptom severity and functional impairment. Family accommodation occurs frequently among individuals with obsessive-compulsive and anxiety disorders; to date, no data exist on the nature and correlates of family accommodation in youth with ASD and anxiety, as well as its relationship to cognitive-behavioral therapy outcome. Forty children with ASD and a comorbid anxiety disorder participated. Clinicians administered measures of ASD and anxiety disorder caseness, anxiety symptom severity, and family accommodation; parents completed questionnaires assessing social responsiveness, internalizing and externalizing behaviors, and functional impairment. A subsample of youth (n = 24) completed a course of cognitive-behavioral therapy. Family accommodation was common and positively correlated with anxiety symptom severity, but not functional impairment, general internalizing symptoms, externalizing behavior, or social responsiveness. Family accommodation decreased following cognitive-behavioral therapy with decreases in family accommodation being associated with decreases in anxiety levels. Treatment responders reported lower family accommodation frequency and lower parent impact relative to non-responders. Clinical implications of this study in assessing and psychotherapeutically treating youth with ASD and comorbid anxiety are discussed. Copyright © 2015 Elsevier Ltd. All rights reserved.

  19. Clinical Variability in a Family with an Ectodermal Dysplasia Syndrome and a Nonsense Mutation in the TP63 Gene

    NARCIS (Netherlands)

    Eisenkraft, A.; Pode-Shakked, B.; Goldstein, N.; Shpirer, Z.; Bokhoven, H. van; Anikster, Y.

    2015-01-01

    Mutations in the TP63 gene have been associated with a variety of ectodermal dysplasia syndromes, among which the clinically overlapping Ankyloblepharon-Ectodermal defects-Cleft lip/palate (AEC) and the Rapp-Hodgkin syndromes. We report a multiplex nonconsanguineous family of Ashkenazi-Jewish

  20. Social media beliefs and usage among family medicine residents and practicing family physicians.

    Science.gov (United States)

    Klee, David; Covey, Carlton; Zhong, Laura

    2015-03-01

    Incorporation of social media (SM) use in medicine is gaining support. The Internet is now a popular medium for people to solicit medical information. Usage of social networks, such as Facebook and Twitter, is growing daily and provides physicians with nearly instantaneous access to large populations for both marketing and patient education. The benefits are myriad, but so are the inherent risks. We investigated the role providers' age and medical experience played in their beliefs and use of SM in medicine. Using multiple state-wide and national databases, we assessed social media use by family medicine residents, faculty, and practicing family physicians with a 24-question online survey. Descriptive data is compared by age and level of medical experience. A total of 61 family medicine residents and 192 practicing family physicians responded. There is a trend toward higher SM utilization in the younger cohort, with 90% of resident respondents reporting using SM, half of them daily. A total of 64% of family physician respondents over the age of 45 have a SM account. An equal percentage of senior physicians use SM daily or not at all. Practicing physicians, more than residents, agree that SM can be beneficial in patient care. The vast majority of residents and physicians polled believe that SM should be taught early in medical education. The high utilization of SM by younger providers, high prevalence of patient use of the Internet, and the countless beneficial opportunities SM offers should be catalysts to drive curriculum development and early implementation in medical education. This curriculum should focus around four pillars: professional standards for SM use, SM clinical practice integration, professional networking, and research.

  1. Detection of Clinical Depression in Adolescents’ Speech During Family Interactions

    Science.gov (United States)

    Low, Lu-Shih Alex; Maddage, Namunu C.; Lech, Margaret; Sheeber, Lisa B.; Allen, Nicholas B.

    2013-01-01

    The properties of acoustic speech have previously been investigated as possible cues for depression in adults. However, these studies were restricted to small populations of patients and the speech recordings were made during patients’ clinical interviews or fixed-text reading sessions. Symptoms of depression often first appear during adolescence at a time when the voice is changing, in both males and females, suggesting that specific studies of these phenomena in adolescent populations are warranted. This study investigated acoustic correlates of depression in a large sample of 139 adolescents (68 clinically depressed and 71 controls). Speech recordings were made during naturalistic interactions between adolescents and their parents. Prosodic, cepstral, spectral, and glottal features, as well as features derived from the Teager energy operator (TEO), were tested within a binary classification framework. Strong gender differences in classification accuracy were observed. The TEO-based features clearly outperformed all other features and feature combinations, providing classification accuracy ranging between 81%–87% for males and 72%–79% for females. Close, but slightly less accurate, results were obtained by combining glottal features with prosodic and spectral features (67%–69% for males and 70%–75% for females). These findings indicate the importance of nonlinear mechanisms associated with the glottal flow formation as cues for clinical depression. PMID:21075715

  2. Comparison of Patient Health History Questionnaires Used in General Internal and Family Medicine, Integrative Medicine, and Complementary and Alternative Medicine Clinics.

    Science.gov (United States)

    Laube, Justin G R; Shapiro, Martin F

    2017-05-01

    Health history questionnaires (HHQs) are a set of self-administered questions completed by patients prior to a clinical encounter. Despite widespread use, minimal research has evaluated the content of HHQs used in general internal medicine and family medicine (GIM/FM), integrative medicine, and complementary and alternative medicine (CAM; chiropractic, naturopathic, and Traditional Chinese Medicine [TCM]) clinics. Integrative medicine and CAM claim greater emphasis on well-being than does GIM/FM. This study investigated whether integrative medicine and CAM clinics' HHQs include more well-being content and otherwise differ from GIM/FM HHQs. HHQs were obtained from GIM/FM (n = 9), integrative medicine (n = 11), naturopathic medicine (n = 5), chiropractic (n = 4), and TCM (n = 7) clinics in California. HHQs were coded for presence of medical history (chief complaint, past medical history, social history, family history, surgeries, hospitalizations, medications, allergies, review of systems), health maintenance procedures (immunization, screenings), and well-being components (nutrition, exercise, stress, sleep, spirituality). In HHQs of GIM/FM clinics, the average number of well-being components was 1.4 (standard deviation [SD], 1.4) compared with 4.0 (SD, 1.1) for integrative medicine (p medicine (p = 0.04), 2.0 (SD, 1.4) for chiropractic (p = 0.54), and 2.0 (SD, 1.5) for TCM (p = 0.47). In HHQs of GIM/FM clinics, the average number of medical history components was 6.4 (SD, 1.9) compared with 8.3 (SD, 1.2) for integrative medicine (p = 0.01), 9.0 (SD, 0) for naturopathic medicine (p = 0.01), 7.1 (SD, 2.8) for chiropractic (p = 0.58), and 7.1 (SD, 1.7) for TCM (p = 0.41). Integrative and naturopathic medicine HHQs included significantly more well-being and medical history components than did GIM/FM HHQs. Further investigation is warranted to determine the optimal HHQ content to support the clinical and preventive

  3. Age at onset of major depressive disorder in Han Chinese women: Relationship with clinical features and family history☆

    Science.gov (United States)

    Yang, Fuzhong; Li, Yihan; Xie, Dong; Shao, Chunhong; Ren, Jianer; Wu, Wenyuan; Zhang, Ning; Zhang, Zhen; Zou, Ying; Zhang, Jiulong; Qiao, Dongdong; Gao, Chengge; Li, Youhui; Hu, Jian; Deng, Hong; Wang, Gang; Du, Bo; Wang, Xumei; Liu, Tiebang; Gan, Zhaoyu; Peng, Juyi; Wei, Bo; Pan, Jiyang; Chen, Honghui; Sun, Shufan; Jia, Hong; Liu, Ying; Chen, Qiaoling; Wang, Xueyi; Cao, Juling; Lv, Luxian; Chen, Yunchun; Ha, Baowei; Ning, Yuping; Chen, YiPing; Kendler, Kenneth S.; Flint, Jonathan; Shi, Shenxun

    2011-01-01

    Background Individuals with early-onset depression may be a clinically distinct group with particular symptom patterns, illness course, comorbidity and family history. This question has not been previously investigated in a Han Chinese population. Methods We examined the clinical features of 1970 Han Chinese women with DSM-IV major depressive disorder (MDD) between 30 and 60 years of age across China. Analysis of linear, logistic and multiple logistic regression models was used to determine the association between age at onset (AAO) with continuous, binary and discrete characteristic clinical features of MDD. Results Earlier AAO was associated with more suicidal ideation and attempts and higher neuroticism, but fewer sleep, appetite and weight changes. Patients with an earlier AAO were more likely to suffer a chronic course (longer illness duration, more MDD episodes and longer index episode), increased rates of MDD in their parents and a lower likelihood of marriage. They tend to have higher comorbidity with anxiety disorders (general anxiety disorder, social phobia and agoraphobia) and dysthymia. Conclusions Early AAO in MDD may be an index of a more severe, highly comorbid and familial disorder. Our findings indicate that the features of MDD in China are similar to those reported elsewhere in the world. PMID:21782247

  4. Age at onset of major depressive disorder in Han Chinese women: relationship with clinical features and family history.

    Science.gov (United States)

    Yang, Fuzhong; Li, Yihan; Xie, Dong; Shao, Chunhong; Ren, Jianer; Wu, Wenyuan; Zhang, Ning; Zhang, Zhen; Zou, Ying; Zhang, Jiulong; Qiao, Dongdong; Gao, Chengge; Li, Youhui; Hu, Jian; Deng, Hong; Wang, Gang; Du, Bo; Wang, Xumei; Liu, Tiebang; Gan, Zhaoyu; Peng, Juyi; Wei, Bo; Pan, Jiyang; Chen, Honghui; Sun, Shufan; Jia, Hong; Liu, Ying; Chen, Qiaoling; Wang, Xueyi; Cao, Juling; Lv, Luxian; Chen, Yunchun; Ha, Baowei; Ning, Yuping; Chen, Yiping; Kendler, Kenneth S; Flint, Jonathan; Shi, Shenxun

    2011-12-01

    Individuals with early-onset depression may be a clinically distinct group with particular symptom patterns, illness course, comorbidity and family history. This question has not been previously investigated in a Han Chinese population. We examined the clinical features of 1970 Han Chinese women with DSM-IV major depressive disorder (MDD) between 30 and 60 years of age across China. Analysis of linear, logistic and multiple logistic regression models was used to determine the association between age at onset (AAO) with continuous, binary and discrete characteristic clinical features of MDD. Earlier AAO was associated with more suicidal ideation and attempts and higher neuroticism, but fewer sleep, appetite and weight changes. Patients with an earlier AAO were more likely to suffer a chronic course (longer illness duration, more MDD episodes and longer index episode), increased rates of MDD in their parents and a lower likelihood of marriage. They tend to have higher comorbidity with anxiety disorders (general anxiety disorder, social phobia and agoraphobia) and dysthymia. Early AAO in MDD may be an index of a more severe, highly comorbid and familial disorder. Our findings indicate that the features of MDD in China are similar to those reported elsewhere in the world. Copyright © 2011 Elsevier B.V. All rights reserved.

  5. Profiling Fast Healthcare Interoperability Resources (FHIR) of Family Health History based on the Clinical Element Models

    OpenAIRE

    Lee, Jaehoon; Hulse, Nathan C.; Wood, Grant M.; Oniki, Thomas A.; Huff, Stanley M.

    2017-01-01

    In this study we developed a Fast Healthcare Interoperability Resources (FHIR) profile to support exchanging a full pedigree based family health history (FHH) information across multiple systems and applications used by clinicians, patients, and researchers. We used previously developed clinical element models (CEMs) that are capable of representing the FHH information, and derived essential data elements including attributes, constraints, and value sets. We analyzed gaps between the FHH CEM ...

  6. Clinical application of ACMG-AMP guidelines in HNF1A and GCK variants in a cohort of MODY families.

    Science.gov (United States)

    Santana, L S; Caetano, L A; Costa-Riquetto, A D; Quedas, E P S; Nery, M; Collett-Solberg, P; Boguszewski, M C S; Vendramini, M F; Crisostomo, L G; Floh, F O; Zarabia, Z I; Kohara, S K; Guastapaglia, L; Passone, C G B; Sewaybricker, L E; Jorge, A A L; Teles, M G

    2017-10-01

    Maturity-onset diabetes of the young (MODY) is a form of monogenic diabetes with autosomal dominant inheritance. GCK -MODY and HNF1A -MODY are the prevalent subtypes. Currently, there is growing concern regarding the correct interpretation of molecular genetic findings. The American College of Medical Genetics and Genomics (ACMG) updated guidelines to interpret and classify molecular variants. This study aimed to determine the prevalence of MODY ( GCK / HNF1A ) in a large cohort of Brazilian families, to report variants related to phenotype, and to classify them according to ACMG guidelines. One hundred and nine probands were investigated, 45% with clinical suspicion of GCK -MODY and 55% with suspicion of HNF1A -MODY. Twenty-five different variants were identified in GCK gene (30 probands-61% of positivity), and 7 variants in HNF1A (10 probands-17% of positivity). Fourteen of them were novel (12- GCK /2- HNF1A ). ACMG guidelines were able to classify a large portion of variants as pathogenic (36%- GCK /86%- HNF1A ) and likely pathogenic (44%- GCK /14%- HNF1A ), with 16% (5/32) as uncertain significance. This allows us to determine the pathogenicity classification more efficiently, and also reinforces the suspected associations with the phenotype among novel variants. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  7. Family stories and the use of heuristics: women from suspected hereditary breast and ovarian cancer (HBOC) families.

    Science.gov (United States)

    Kenen, Regina; Ardern-Jones, Audrey; Eeles, Rosalind

    2003-11-01

    The practice of medicine will increasingly be medicine of the family rather than the traditional physician/patient dyad, especially where a genetic condition is involved. This study explores how clients from suspected hereditary breast and ovarian cancer (HBOC) families seeking cancer genetics risk counselling are influenced by family stories and the use of heuristics (inferential shortcuts used to make sense of complicated information) in interpreting and applying genetic information they receive, and suggests ways in which genetic counsellors can integrate family context into their traditional counselling practices. We conducted an exploratory, qualitative study at a major clinical and research cancer centre in the United Kingdom from January to June 2000 which was reviewed by the hospital clinical research and ethics committees. Twenty-one semi-structured, in-depth interviews were conducted using a purposive sample of women coming to the cancer genetics clinic for the first time, supplemented by five months of clinical observation at weekly clinics. In addition to many family stories based on the number and outcomes of the cancers in their families, we noted: (1) fragments of stories, (2) secret stories, (3) emerging explanations and (4) misconceptions, We did not find widespread intergenerational family myths, The women used three main heuristics in interpreting their breast/ ovarian cancer risk: (1) representativeness, (2) availability and (3) illusion of control, as well as what Kahneman refers to as the Peak and End rule. Recent psychological research indicates that illusions of control may have positive affects on both physical and mental health. This may pose a future ethical issue for genetic counsellors in determining how to balance the benefit of positive illusions with the delivery of statistical probabilities of risk.

  8. The role of family bio-social variables in depression in a resource-constrained environment: A cross-sectional study of ambulatory adult patients in a primary care clinic in Eastern Nigerian

    Directory of Open Access Journals (Sweden)

    Gabriel Uche Pascal Iloh

    2018-01-01

    Full Text Available Background: Depression is a family and public health condition that has negative consequences for the victim, family, friends, and society with significant socio-family dysfunction, especially when it is undiagnosed. Aim: The present study was aimed at determining the role of family bio-social variables in depression among ambulatory adult patients in a primary care clinic in the Eastern Nigerian. Materials and Methods: A clinic-based cross-sectional descriptive study was carried out on 400 adult patients in a primary care clinic in Nigeria. Data were collected using Patient Health Questionnaire-9, Family Assessment Device, Multidimensional Scale of Perceived Social Support and Brief Family Relationship Scale. Results: The age of the study participants ranged from 18 to 78 years. There were 40.5% of male and 59.5% of female. The prevalence of depression was 48.5% with the most common pattern being mild depression (32.3%. Depression was significantly associated with unhealthy family functioning (P = 0.002, low-acuity family support (P = 0.039, family with least cohesion (P = 0.044, least expressiveness (P = 0.013, and most conflict (P = 0.013. The most significant predictor of depression was unhealthy family functioning (Odds ratio = 3.14 [1.82–3.77]; P = 0.001. Depressed patients who had unhealthy family functioning were three times more likely to experience depressive illness compared to their counterparts who were from healthy functional family. Conclusion: Depression occurred among the study participants and was significantly associated with unhealthy family functioning, low family support, least family cohesion and expressiveness and most family conflict. Assessment of family biosocial factors should be part of the reason for encounter during consultation to unravel family variables that positively or negatively influence depression.

  9. Familial canine dermatomyositis: clinical, electrodiagnostic, and genetic studies

    International Nuclear Information System (INIS)

    Haupt, K.H.; Prieur, D.J.; Moore, M.P.; Hargis, A.M.; Hegreberg, G.A.; Gavin, P.R.; Johnson, R.S.

    1985-01-01

    Three Collies with a skin disorder, 6 progeny from a breeding of 2 of the Collies (incross litter), and the 4 progeny from the breeding of an affected Collie male and a normal Labrador Retriever female (outcross litter) were examined. By 7 to 11 weeks of age, all 6 dogs in the incross litter developed a qualitatively similar, but variably severe, dermatitis of the ears, face, lips, tip of the tail, and over bony prominences of limbs. Later, myopathic signs characterized by bilaterally symmetrical skeletal muscle atrophy of the head, neck, trunk, and extremities; facial palsy; decreased jaw tone; stiff gait; and hyperreflexia were observed in the dogs more severely affected by the dermatitis. Of the 4 dogs in the outcross litter, 3 had similar, but milder, clinical manifestations of the dermatitis and myopathy. Cutaneous lesions consisted of intraepidermal and subepidermal vesicles or pustules with intradermal infiltration by leukocytes. Muscle lesions included myositis; myofiber degeneration, regeneration, and atrophy; and fibrosis. A generalized myopathy in the severely affected dogs was indicated by abnormal readings on needle electromyograms and normal motor nerve conduction velocities. Spontaneous needle electromyogram abnormalities were fibrillation potentials, positive sharp waves, and bizarre high-frequency discharges. Retrospective and prospective genetic analyses disclosed a definite familial tendency and indicated the condition has an autosomal dominant component

  10. The analysis of a large Danish family supports the presence of a susceptibility locus for adenoma and colorectal cancer on chromosome 11q24

    DEFF Research Database (Denmark)

    Rudkjøbing, Laura Aviaja; Eiberg, Hans; Mikkelsen, Hanne Birte

    2015-01-01

    Hereditary colorectal cancer accounts for approximately 30 % of all colorectal cancers, but currently only 5 % of these families can be explained by highly penetrant, inherited mutations. In the remaining 25 % it is not possible to perform a gene test to identify the family members who would...... benefit from prophylactic screening. Consequently, all family members are asked to follow a screening program. The purpose of this study was to localize a new gene which causes colorectal cancer. We performed a linkage analysis using data from a SNP6.0 chip in one large family with 12 affected family...... areas on chromosome 2 and chromosome 11 with the highest possible LOD scores of 2.6. Two other studies have identified 11q24 as a candidate area for colorectal cancer susceptibility and this area is supported by our results....

  11. The impact of rotavirus gastroenteritis on the family

    Directory of Open Access Journals (Sweden)

    Kelly Claudia M

    2009-02-01

    Full Text Available Abstract Background Rotavirus is the leading cause of severe diarrhea in young children and causes substantial morbidity and mortality. Although the clinical aspects have been well described, little information is available regarding the emotional, social, and economic impact of rotavirus gastroenteritis on the family of a sick child. The objectives of this study were to: 1 assess the family impact of rotavirus gastroenteritis through qualitative interviews with parents; 2 compare the clinical severity of rotavirus-positive and negative gastroenteritis; 3 test a questionnaire asking parents to rank the importance of various factors associated with a case of rotavirus gastroenteritis. Methods The study enrolled parents and children (2–36 months of age brought to one of the study sites (outpatient clinic or ER if the child experienced ≥ 3 watery or looser-than normal stools and/or forceful vomiting within any 24-hour period within the prior 3 days. The clinical severity of each child's illness was rated using a clinical scoring system and stool samples were tested for rotavirus antigen. Parents of rotavirus-positive children were invited to participate in focus group or individual interviews and subsequently completed a questionnaire regarding the impact of their child's illness. Results Of 62 enrolled children, 43 stool samples were collected and 63% tested positive for rotavirus. Illness was more severe in children with rotavirus-positive compared to rotavirus-negative gastroenteritis (92% vs. 37.5% rated as moderate/severe. Seventeen parents of rotavirus-positive children participated in the interviews and completed the written questionnaire. Parents were frightened by the severity of vomiting and diarrhea associated with rotavirus gastroenteritis, and noted that family life was impacted in several ways including loss of sleep, missed work, and an inability to complete normal household tasks. They expressed frustration at the lack of a

  12. Evaluation of an Ongoing Diabetes Group Medical Visit in a Family Medicine Practice.

    Science.gov (United States)

    Cunningham, Amy T; Delgado, David J; Jackson, Joseph D; Crawford, Albert G; Jabbour, Serge; Lieberthal, Robert D; Diaz, Victor; LaNoue, Marianna

    2018-01-01

    Group medical visits (GMVs), which combine 1-on-1 clinical consultations and group self-management education, have emerged as a promising vehicle for supporting type 2 diabetes management in primary care. However, few evaluations exist of ongoing diabetes GMVs embedded in medical practices. This study used a quasi-experimental design to evaluate diabetes GMV at a large family medicine practice. We examined program attendance and attrition, used propensity score matching to create a matched comparison group, and compared participants and the matched group on clinical, process of care, and utilization outcomes. GMV participants (n = 230) attended an average of 1 session. Participants did not differ significantly from the matched comparison group (n = 230) on clinical, process of care or utilization outcomes. The diabetes GMV was not associated with improvements in outcomes. Further studies should examine diabetes GMV implementation challenges to enhance their effectiveness in everyday practice. © Copyright 2018 by the American Board of Family Medicine.

  13. Mental retardation in Nance-Horan syndrome: clinical and neuropsychological assessment in four families.

    Science.gov (United States)

    Toutain, A; Ayrault, A D; Moraine, C

    1997-08-22

    Nance-Horan syndrome (NHS) is a rare X-linked condition comprising congenital cataract with microcornea, distinctive dental, and evocative facial anomalies. Intellectual handicap was mentioned in seven published NHS patients. We performed a clinical study focused on psychomotor development, intellectual abilities, and behavior in 13 affected males in four NHS families, and present the results of a neuropsychological evaluation in 7 of them. Our study confirms that mental retardation (MR) can be a major component of the NHS. Combining our data with those from the literature leads to a frequency of MR in NHS of around 30%. In most cases, MR is mild or moderate (80%) and not associated with motor delay. Conversely, a profound mental handicap associated with autistic traits may be observed. MR has intra- and inter-familial variability but does not appear to be expressed in carriers. Awareness of MR in NHS may be of importance in the management of the patients, especially in terms of education. Cloning and characterization of the gene and analysis of mutations will be an important step towards understanding the molecular basis of mental deficiency in NHS, and in delineation from the other XLMR conditions at Xp22.

  14. Evolutionary mechanisms driving the evolution of a large polydnavirus gene family coding for protein tyrosine phosphatases

    Directory of Open Access Journals (Sweden)

    Serbielle Céline

    2012-12-01

    Full Text Available Abstract Background Gene duplications have been proposed to be the main mechanism involved in genome evolution and in acquisition of new functions. Polydnaviruses (PDVs, symbiotic viruses associated with parasitoid wasps, are ideal model systems to study mechanisms of gene duplications given that PDV genomes consist of virulence genes organized into multigene families. In these systems the viral genome is integrated in a wasp chromosome as a provirus and virus particles containing circular double-stranded DNA are injected into the parasitoids’ hosts and are essential for parasitism success. The viral virulence factors, organized in gene families, are required collectively to induce host immune suppression and developmental arrest. The gene family which encodes protein tyrosine phosphatases (PTPs has undergone spectacular expansion in several PDV genomes with up to 42 genes. Results Here, we present strong indications that PTP gene family expansion occurred via classical mechanisms: by duplication of large segments of the chromosomally integrated form of the virus sequences (segmental duplication, by tandem duplications within this form and by dispersed duplications. We also propose a novel duplication mechanism specific to PDVs that involves viral circle reintegration into the wasp genome. The PTP copies produced were shown to undergo conservative evolution along with episodes of adaptive evolution. In particular recently produced copies have undergone positive selection in sites most likely involved in defining substrate selectivity. Conclusion The results provide evidence about the dynamic nature of polydnavirus proviral genomes. Classical and PDV-specific duplication mechanisms have been involved in the production of new gene copies. Selection pressures associated with antagonistic interactions with parasitized hosts have shaped these genes used to manipulate lepidopteran physiology with evidence for positive selection involved in

  15. Evaluation of correct diagnosis of referral patients to skin clinic by family physicians: A needs assessment for UME,CME

    Directory of Open Access Journals (Sweden)

    A Ramezanpour

    2009-08-01

    Full Text Available Background and purpose: It has been demonstrated that the level of welfare and improvement of nations is evaluated by the progress and achievement of their health service networks. The specialization of therapeutic approaches is one of the practical and effective ways to accomplish this goal. The health system savants believe that the family physician guideline is the redeemer of health system section. This study is aimed, to evaluate the accuracy of diagnosis of the dermatologic disease of referred patients by family physician in Zanjan Valiasr hospital in year 2008.Methods: This descriptive and cross-sectional study was done on 173 cases of referred patients from village family physician to dermatologic clinic. After correct diagnosis by dermatologist data including age, sex, family physician diagnosis and dermatologist diagnosis were recorded on data forms and then analyzed by Chi-square test.Results: From 173 referred patients, 76 cases (43.9% were male, 49 cases (28.3% were under 15 years old, 73 cases (42.2% were between 15-30 years old, and rest were more than 30 years old. 28 cases (16.1% have been referred with correct diagnosis.Conclusion: The level of accurate diagnosis by family physicians was law, which can be due to non-familiarity with common local skin disease and lack of enough instruction and education before starting the family physician project. We recommended that before starting this project, specialist workshop be prepared for family physicians.key words: Family Physician, Skin Diseases, Needs Assessment

  16. A randomized trial of family focused therapy with populations at clinical high risk for psychosis: effects on interactional behavior.

    Science.gov (United States)

    O'Brien, Mary P; Miklowitz, David J; Candan, Kristin A; Marshall, Catherine; Domingues, Isabel; Walsh, Barbara C; Zinberg, Jamie L; De Silva, Sandra D; Woodberry, Kristen A; Cannon, Tyrone D

    2014-02-01

    This study investigated whether family focused therapy (FFT-CHR), an 18-session intervention that consisted of psychoeducation and training in communication and problem solving, brought about greater improvements in family communication than enhanced care (EC), a 3-session psychoeducational intervention, among individuals at clinical high risk for developing psychosis. This study was conducted within a randomized controlled trial across 8 sites. We examined 10-min problem-solving discussions at baseline and 6-month reassessment among 66 adolescents and young adults and their parents. Trained coders who were blind to treatment and time of assessment achieved high levels of interrater reliability when evaluating family discussions on categories of calm-constructive and critical-conflictual behavior. Individuals at high risk and their family members who participated in FFT-CHR demonstrated greater improvement from baseline to 6-month reassessment in constructive communication and decreases in conflictual behaviors during family interactions than those in EC. Participants in FFT-CHR showed greater increases from baseline to 6 months in active listening and calm communication and greater decreases in irritability and anger, complaints and criticism, and off-task comments compared to participants in EC. These changes occurred equally in high-risk participants and their family members. A 6-month family skills training treatment can bring about significant improvement in family communication among individuals at high risk for psychosis and their parents. Future studies should examine the association between enhancements in family communication and reduced risk for the onset of psychosis among individuals at high risk. PsycINFO Database Record (c) 2014 APA, all rights reserved.

  17. [Comparison among families of Mutong].

    Science.gov (United States)

    Ma, Hong-mei; Zhang, Bo-li

    2002-06-01

    To distinguish families of Mutong correctly and direct effective and safe clinical administration. Comparison among families of Mutong on Herbs, Taxology, Clinic, Pharmacology and Toxicology. 1. There are mainly three families of Mutong: Lardizabalaceae, Ranunculaceae, Aristolochiaceae, which were all included in China Pharmacopeia in 1963. However only Mutong of Ranunculaceae and Aristolochiaceae family have been included in China Pharmacopeia since 1977, but Mutong of Lardizabalaceae family has not been included in China Pharmacopeia ever since. 2. It was Mutong of Lardizabalaceae family that was used mainly through the ages without toxic records, and Mutong of Aristolochiaceae e.g. Caulis Aristolochia manshuriensis (CAM) was not put down in writing of past ages but is mainly used today with toxicity repeatedly. 3. CAM contain aristolochic acid and aristololactam with high toxicity, which plays an uncertain role in diuresis with poor bactericidal power. Mutong of Lardizabalaceae family e.g. Akebia trifoliata (Thunb.) Koidz. var. australis (Diels) Rehd (ATKV) don't contain aristolochic acid and aristololactam, which has low toxicity and plays a certain role in diuresis with high bactericidal power. It may be quite safe to use ATKV instead of CAM in clinics. So we suggest that ATKV should be reused as first Mutong in China Pharmacopeia revised edition in order to ensure a correct understanding of the facts and reveal Mutong in its true colors, and CAM should be used as second Mutong strictly according to the rules in China Pharmacopeia revised edition.

  18. Clinical and radiological assessment of a family with mild brachydactyly type A1: the usefulness of metacarpophalangeal profiles.

    Science.gov (United States)

    Armour, C M; Bulman, D E; Hunter, A G

    2000-04-01

    The brachydactylies are a group of conditions in which various subtypes have been defined based upon the specific pattern of digital bones involved. Type A1 brachydactyly is principally characterised by maximal involvement of the middle phalanges. We report an extended family with a mild brachydactyly A1 which was, except for some short stature, not associated with any of the additional clinical findings reported in several published families. While all the hand bones tended to be small, the principal features of the affected members were shortened middle and distal phalanges, proximal 1st phalanges, and 5th metacarpals. The feet were similarly involved and tended to have a broad, slightly adducted forefoot. The two affected children showed multiple coned epiphyses. This paper provides a detailed description of the family including the radiographic signs and metacarpophalangeal profiles, which proved to be useful in distinguishing the mildly affected persons.

  19. Working mothers: Family-work conflict, job performance and family/work variables

    Directory of Open Access Journals (Sweden)

    Cynthia J Patel

    2006-10-01

    Full Text Available The present study examined the relationship between family-work conflict, job performance and selected work and family characteristics in a sample of working mothers employed at a large retail organization. The hypothesis of a negative relationship between family-work conflict and job performance was rejected. Married women reported significantly higher family-work conflict than unmarried women, while women in the highest work category gained the highest job performance rating. More than half the sample indicated that paid work was more important than their housework and reported that their working had a positive impact on their families. The findings are discussed in relation to the changing work and family identities of non-career women.

  20. CADASIL: pathogenesis, clinical and radiological findings and treatment

    International Nuclear Information System (INIS)

    Andre, Charles

    2010-01-01

    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common genetic cause of ischemic strokes and a most important model for the study of subcortical vascular dementia. This unrelentlessly progressive disease affects many hundreds of families all over the world but is not well studied in Brazil. This manuscript reviews pathogenetic, clinical, radiological and therapeutic features of CADASIL. The causal mutations are now very well known, but the same can not be said about its intimate pathogenetic mechanisms. The variable clinical presentation should lead physicians to actively pursue the diagnosis in many settings and to more thoroughly investigate family history in first degree relatives. A rational approach to genetic testing is however needed. Treatment of CADASIL is still largely empiric. High-quality therapeutic studies involving medications and cognitive interventions are strongly needed in CADASIL. (author)

  1. CADASIL: pathogenesis, clinical and radiological findings and treatment

    Energy Technology Data Exchange (ETDEWEB)

    Andre, Charles [Federal University of Rio de Janeiro (UFRJ), Rio de Janeiro, RJ (Brazil). School of Medicine

    2010-04-15

    Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common genetic cause of ischemic strokes and a most important model for the study of subcortical vascular dementia. This unrelentlessly progressive disease affects many hundreds of families all over the world but is not well studied in Brazil. This manuscript reviews pathogenetic, clinical, radiological and therapeutic features of CADASIL. The causal mutations are now very well known, but the same can not be said about its intimate pathogenetic mechanisms. The variable clinical presentation should lead physicians to actively pursue the diagnosis in many settings and to more thoroughly investigate family history in first degree relatives. A rational approach to genetic testing is however needed. Treatment of CADASIL is still largely empiric. High-quality therapeutic studies involving medications and cognitive interventions are strongly needed in CADASIL. (author)

  2. Large bowel resection

    Science.gov (United States)

    ... blockage in the intestine due to scar tissue Colon cancer Diverticular disease (disease of the large bowel) Other reasons for bowel resection are: Familial polyposis (polyps are growths on the lining of the colon or rectum) Injuries that damage the large bowel ...

  3. Asteroid families from cratering: Detection and models

    Science.gov (United States)

    Milani, A.; Cellino, A.; Knežević, Z.; Novaković, B.; Spoto, F.; Paolicchi, P.

    2014-07-01

    A new asteroid families classification, more efficient in the inclusion of smaller family members, shows how relevant the cratering impacts are on large asteroids. These do not disrupt the target, but just form families with the ejecta from large craters. Of the 12 largest asteroids, 8 have cratering families: number (2), (4), (5), (10), (87), (15), (3), and (31). At least another 7 cratering families can be identified. Of the cratering families identified so far, 7 have >1000 members. This imposes a remarkable change from the focus on fragmentation families of previous classifications. Such a large dataset of asteroids believed to be crater ejecta opens a new challenge: to model the crater and family forming event(s) generating them. The first problem is to identify which cratering families, found by the similarity of proper elements, can be formed at once, with a single collision. We have identified as a likely outcome of multiple collisions the families of (4), (10), (15), and (20). Of the ejecta generated by cratering, only a fraction reaches the escape velocity from the surviving parent body. The distribution of velocities at infinity, giving to the resulting family an initial position and shape in the proper elements space, is highly asymmetric with respect to the parent body. This shape is deformed by the Yarkovsky effect and by the interaction with resonances. All the largest asteroids have been subjected to large cratering events, thus the lack of a family needs to be interpreted. The most interesting case is (1) Ceres, which is not the parent body of the nearby family of (93). Two possible interpretations of the low family forming efficiency are based on either the composition of Ceres with a significant fraction of ice, protected by a thin crust, or with the larger escape velocity of ~500 m/s.

  4. High incidence of large deletions in the PMS2 gene in Spanish Lynch syndrome families.

    Science.gov (United States)

    Brea-Fernández, A J; Cameselle-Teijeiro, J M; Alenda, C; Fernández-Rozadilla, C; Cubiella, J; Clofent, J; Reñé, J M; Anido, U; Milá, M; Balaguer, F; Castells, A; Castellvi-Bel, S; Jover, R; Carracedo, A; Ruiz-Ponte, C

    2014-06-01

    Lynch syndrome (LS) is caused by germline mutations in one of the four mismatch repair (MMR) genes. Defects in this pathway lead to microsatellite instability (MSI) in DNA tumors, which constitutes the molecular hallmark of this disease. Selection of patients for genetic testing in LS is usually based on fulfillment of diagnostic clinical criteria (i.e. Amsterdam criteria or the revised Bethesda guidelines). However, following these criteria PMS2 mutations have probably been underestimated as their penetrances appear to be lower than those of the other MMR genes. The use of universal MMR study-based strategies, using MSI testing and immunohistochemical (IHC) staining, is being one proposed alternative. Besides, germline mutation detection in PMS2 is complicated by the presence of highly homologous pseudogenes. Nevertheless, specific amplification of PMS2 by long-range polymerase chain reaction (PCR) and the improvement of the analysis of large deletions/duplications by multiplex ligation-dependent probe amplification (MLPA) overcome this difficulty. By using both approaches, we analyzed 19 PMS2-suspected carriers who have been selected by clinical or universal strategies and found five large deletions and one frameshift mutation in PMS2 in six patients (31%). Owing to the high incidence of large deletions found in our cohort, we recommend MLPA analysis as the first-line method for searching germline mutations in PMS2. © 2013 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  5. Only male matrilineal relatives with Leber's hereditary optic neuropathy in a large Chinese family carrying the mitochondrial DNA G11778A mutation

    International Nuclear Information System (INIS)

    Qu Jia; Li Ronghua; Tong Yi; Hu Yongwu; Zhou Xiangtian; Qian Yaping; Lu Fan; Guan Minxin

    2005-01-01

    We report here the characterization of a five-generation large Chinese family with Leber's hereditary optic neuropathy (LHON). Very strikingly, six affected individuals of 38 matrilineal relatives (17 females/21 males) are exclusively males in this Chinese family. These matrilineal relatives in this family exhibited late-onset/progressive visual impairment with a wide range of severity, ranging from blindness to normal vision. The age of onset in visual impairment varies from 17 to 30 years. Sequence analysis of the complete mitochondrial genome in this pedigree revealed the presence of the G11778A mutation in ND4 gene and 29 other variants. This mitochondrial genome belongs to the Southern Chinese haplogroup B5b. We showed that the G11778A mutation is present at near homoplasmy in matrilineal relatives of this Chinese family but not in 164 Chinese controls. Incomplete penetrance of LHON in this family indicates the involvement of modulatory factors in the phenotypic expression of visual dysfunction associated with the G11778A mutation. However, none of other mtDNA variants are evolutionarily conserved and implicated to have significantly functional consequence. Thus, nuclear modifier gene(s) or environmental factor(s) seem to account for the penetrance and phenotypic variability of LHON in this Chinese family carrying the G11778A mutation

  6. [Families of the economic crisis in paediatric Primary Care clinics: descriptive observational study].

    Science.gov (United States)

    Martín Martín, R; Sánchez Bayle, M; Gancedo García, C; Teruel de Francisco, M C; Coullaut López, A

    2016-04-01

    To study the impact of the economic crisis on the families of the children who attend Primary Health Care and its relationship with their socioeconomic status. Observational descriptive study was conducted by analysing the results of 453 questionnaires, given to the parents of children between 1 and 7 years old who attended 4 paediatric clinics in Madrid. The raw data was analysed, and comparisons between groups and multivariate analysis were performed. In the multivariate analysis, the variables related to the non-acquisition of prescribed medication are: lower income level OR=0.118, p<.0001 and lower educational level OR=0.464, p<.001; the variables related to the reduction of food expenditure are: lower income level OR=0.100, p<.0001 and a higher number of family members OR=1.308, p=.045; the variables related to anti-pneumococcal vaccination without public funding are: higher income level OR=2.170, p=.0001, higher educational level OR=1.835, p=.013, and not being an immigrant OR=0.532, p=.037. The presence of health problems from the beginning of the economic crisis is related to unemployment OR=4.079, p=.032, lower educational level R=0.678, p=.042, and income level OR=0.342, p<.0001. In all cases, the models achieved a statistical significance of p<.0001. The economic crisis has greater impact on the group with the lowest income level in all analysed variables. The lower educational level and higher number of family members has an impact on the reduction in food expenditure. The fact of being an immigrant has an impact on not receiving the anti-pneumococcal and rotavirus vaccination. Unemployment leads to an increase in health problems in the family. To sum up, the economic crisis has increased inequalities according to socioeconomic status. Copyright © 2015 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.

  7. India's misconceived family plan.

    Science.gov (United States)

    Jacobson, J L

    1991-01-01

    India's goal of reducing the national birth rate by 50% by the year 2000 is destined to failure in the absence of attention to poverty, social inequality, and women's subordination--the factors that serve to perpetuate high fertility. There is a need to shift the emphasis of the population control effort from the obligation of individual women to curtail childbearing to the provision of the resources required for poor women to meet their basic needs. Female children are less likely to be educated or taken for medical care than their male counterparts and receive a lower proportion of the family's food supply. This discrimination stems, in large part, from parents' view that daughters will not be able to remunerate their families in later life for such investments. The myth of female nonproductivity that leads to the biased allocation of family resources overlooks the contribution of adult women's unpaid domestic labor and household production. Although government statistics state that women comprise 46% of India's agricultural labor force (and up to 90% of rural women participate in this sector on some basis), women have been excluded systematically from agricultural development schemes such as irrigation projects, credit, and mechanization. In the field of family planning, the Government's virtually exclusive focus on sterilization has excluded younger women who are not ready to terminate childbearing but would like methods such as condoms, diaphragms, IUDs, and oral contraceptives to space births. More general maternal-child health services are out of reach of the majority of poor rural women due to long distances that must be travelled to clinics India's birth rate could be reduced by 25% by 2000 just by filling the demand for quality voluntary family planning services. Without a sustained political commitment to improve the status of women in India, however, such gains will not be sustainable.

  8. 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.

  9. Cybernetics of Brief Family Therapy.

    Science.gov (United States)

    Keeney, Bradford P.; Ross, Jeffrey M.

    1983-01-01

    Presents a cybernetic view of brief family therapy. Includes a historical discussion of the key ideas underlying brief family therapy, a cybernetic model of therapeutic change, and a clinical case for exemplification. (Author/JAC)

  10. Formative feedback from the first-person perspective using Google Glass in a family medicine objective structured clinical examination station in the United States.

    Science.gov (United States)

    Youm, Julie; Wiechmann, Warren

    2018-01-01

    This case study explored the use of Google Glass in a clinical examination scenario to capture the first-person perspective of a standardized patient as a way to provide formative feedback on students' communication and empathy skills 'through the patient's eyes.' During a 3-year period between 2014 and 2017, third-year students enrolled in a family medicine clerkship participated in a Google Glass station during a summative clinical examination. At this station, standardized patients wore Google Glass to record an encounter focused on communication and empathy skills 'through the patient's eyes.' Students completed an online survey using a 4-point Likert scale about their perspectives on Google Glass as a feedback tool (N= 255). We found that the students' experiences with Google Glass 'through the patient's eyes' were largely positive and that students felt the feedback provided by the Google Glass recording to be helpful. Although a third of the students felt that Google Glass was a distraction, the majority believed that the first-person perspective recordings provided an opportunity for feedback that did not exist before. Continuing exploration of first-person perspective recordings using Google Glass to improve education on communication and empathy skills is warranted.

  11. Absence of consensus in diagnostic criteria for familial neurodegenerative diseases.

    LENUS (Irish Health Repository)

    Byrne, Susan

    2012-04-01

    A small proportion of cases seen in neurodegenerative conditions such as amyotrophic lateral sclerosis (ALS), Parkinson\\'s disease and Alzheimer disease are familial. These familial cases are usually clinically indistinguishable from sporadic cases. Identifying familial cases is important both in terms of clinical guidance for family members and for gene discovery.

  12. Metabolic syndrome in patients with hypertension attending a family practice clinic in Jordan.

    Science.gov (United States)

    Yasein, N; Ahmad, M; Matrook, F; Nasir, L; Froelicher, E S

    2010-04-01

    Metabolic syndrome is being reported more frequently in the Eastern Mediterranean region. Patients with hypertension attending family practice clinics in the University of Jordan Hospital between February and July 2006 were assessed for the frequency of metabolic syndrome and its individual components. Of 345 patients studied, 65% had metabolic syndrome. Females were more likely to meet Adult Treatment Panel-III criteria for the diagnosis. Diabetes mellitus was the most frequent component of metabolic syndrome in males, while low serum high-density lipoprotein cholesterol and high waist circumference ranked first and second in females. Primary care providers should be alert to the importance of screening patients with hypertension for metabolic syndrome to prevent and manage these combined conditions.

  13. Familial gigantiform cementoma

    International Nuclear Information System (INIS)

    Han, Won Jeong; Kim, Eun Kyung

    2006-01-01

    Familial gigantiform cementoma is a rate fibro-cemento-osseous disease of the jaws which appears to be transmitted as an autosomal dominant trait with variable expressivity of the phenotype. A 7-year-old girl visited DKUDH complaining of the painless facial deformity. Clinically, significant facie-lingual expansion was observed at the left maxilla, left mandibular body and symphysis portion. Malposition of lower anterior teeth was found. Panoramic radiograph and CT scan showed the extensive expandile mixed lesion at maxilla and mandible. Bone scan revealed hot spot at the maxilla and left side of mandible. Histologic examination revealed moderately dense fibrous connective tissue with scattered masses resembling cementum. The patient's mother had a history of the mandibular resection due to benign tumor. Her younger brother had buccal expansion of right mandible. We report our finding of a family that has exhibited clinical, radiographic and histologic findings consistent with the familial gigantiform dementoma

  14. 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.

  15. Family Intervention in First-Episode Psychosis

    Directory of Open Access Journals (Sweden)

    Anvar Sadath

    2015-11-01

    Full Text Available Family interventions have produced benefits on clinical and family outcomes in long standing psychosis. However, little is known about the efficacy of such interventions in the early stages of psychosis. This article reviews published research over the last two decades on family intervention in first-episode psychosis. Electronic databases, such as PubMed, PsycINFO, and ScienceDirect, have been systematically searched. In addition, an exhaustive Internet search was also carried out using Google and Google Scholar to identify the potential studies that evaluated family interventions in first-episode psychosis. We have identified seven reports of five randomized controlled trials (RCTs and five non-randomized and uncontrolled studies of family intervention. Our review on 12 reports of family intervention studies has shown mixed effects on outcomes in first-episode psychosis. Most of the reports showed no added benefits or very short-term benefits on primary clinical or family outcome variables. There is a dearth of family intervention studies in first-episode psychosis. More RCTs are needed to reach reliable conclusions.

  16. Knowledge and attitudes on sexuality among nurses in a family planning clinic in Kuala Lumpur.

    Science.gov (United States)

    Mat Saat Baki

    1983-12-01

    The study reported served 2 purposes: 1) to assess the amount of sexual information posessed by a sample of staff nurses working for the National Family Planning Board and the Public Health Dept., and 2) to gather local normative data on the Information Subtest of the Derogatis Sexual Functioning Inventory (DSFI). The subjects for the this study were 2 groups of staff nurses. 10 were employees of the National Family Planning Board currently working in 1 of its clinics and 25 were public health nurses who were at a 1 week training at the clinic. The research was a questionnaire type study. Each subject was given the DSFI. On the Information Subtest of the DSFI the subjects obtained a mean score of 12.7 with a standard deviation of 4.2. This score is much lower than the normative mean (American population) and the sexually dysfunctional women mean. The nurses had inadequate and inaccurate knowledge about anatomy, physiology and psychology of sexual relations. Error analysis revealed that as a group they had poor understanding about male sexuality, the effect of aging on sexuality fertility and menopause, and difficulty in accepting oral-genital sex and sexual fantasies. This study recommends that these nurses, in order to more effective in their work, should be trained in the area of human sexuality. This training must include not only the physiology of sex but also the human aspects of sexual union.

  17. Large deviations for noninteracting infinite-particle systems

    International Nuclear Information System (INIS)

    Donsker, M.D.; Varadhan, S.R.S.

    1987-01-01

    A large deviation property is established for noninteracting infinite particle systems. Previous large deviation results obtained by the authors involved a single I-function because the cases treated always involved a unique invariant measure for the process. In the context of this paper there is an infinite family of invariant measures and a corresponding infinite family of I-functions governing the large deviations

  18. Adolescents as perpetrators of aggression within the family.

    Science.gov (United States)

    Kuay, Hue San; Lee, Sarah; Centifanti, Luna C M; Parnis, Abigail C; Mrozik, Jennifer H; Tiffin, Paul A

    2016-01-01

    Although family violence perpetrated by juveniles has been acknowledged as a potentially serious form of violence for over 30years, scientific studies have been limited to examining the incidence and form of home violence. The present study examined the prevalence of family aggression as perpetrated by youths; we examined groups drawn from clinic-referred and forensic samples. Two audits of case files were conducted to systematically document aggression perpetrated by referred youths toward their family members. The purpose of the first audit was fourfold: i) to identify the incidence of the perpetration of family aggression among clinical and forensic samples; ii) to identify whether there were any reports of weapon use during aggressive episodes; iii) to identify the target of family aggression (parents or siblings); and iv) to identify the form of aggression perpetrated (verbal or physical). The second audit aimed to replicate the findings and to show that the results were not due to differences in multiple deprivation indices, clinical diagnosis of disruptive behavior disorders, and placement into alternative care. A sampling strategy was designed to audit the case notes of 25 recent forensic Child and Adolescent Mental Health Service (CAMHS) cases and 25 demographically similar clinic-referred CAMHS cases in the first audit; and 35 forensic cases and 35 demographically similar clinic-referred CAMHS cases in the second audit. Using ordinal chi-square, the forensic sample (audit 1=64%; audit 2=82.9%) had greater instances of family violence than the clinical sample (audit 1=32%; audit 2=28.6%). They were more likely to use a weapon (audit 1=69%; audit 2=65.5%) compared to the clinical sample (audit 1 and 2=0%). Examining only the aggressive groups, there was more perpetration of aggression toward parents (audit 1, forensic=92%, clinical=75%; audit 2, forensic=55.17%, clinical=40%) than toward siblings (audit 1, forensic=43%, clinical=50%; audit 2, forensic=27

  19. 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...

  20. Getting closer to people: family planning provision by drug shops in Uganda

    Science.gov (United States)

    Akol, Angela; Chin-Quee, Dawn; Wamala-Mucheri, Patricia; Namwebya, Jane Harriet; Mercer, Sarah Jilani; Stanback, John

    2014-01-01

    ABSTRACT Background: Private-sector drug shops are often the first point of health care in sub-Saharan Africa. Training and supporting drug shop and pharmacy staff to provide a wide range of contraceptive methods and information is a promising high-impact practice for which more information is needed to fully document implementation experience and impact. Methods: Between September 2010 and March 2011, we trained 139 drug shop operators (DSOs) in 4 districts of Uganda to safely administer intramuscular DMPA (depot medroxyprogesterone acetate) contraceptive injections. In 2012, we approached 54 of these DSOs and interviewed a convenience sample of 585 of their family planning clients to assess clients' contraceptive use and perspectives on the quality of care and satisfaction with services. Finally, we compared service statistics from April to June 2011 from drug shops, community health workers (CHWs), and government clinics in 3 districts to determine the drug shop market share of family planning services. Results: Most drug shop family planning clients interviewed were women with low socioeconomic status. The large majority (89%) were continuing family planning users. DMPA was the preferred contraceptive. Almost half of the drug shop clients had switched from other providers, primarily from government health clinics, mostly as a result of more convenient locations, shorter waiting times, and fewer stock-outs in drug shops. All clients reported that the DSOs treated them respectfully, and 93% trusted the drug shop operator to maintain privacy. Three-quarters felt that drug shops offered affordable family planning services. Most of the DMPA clients (74%) were very satisfied with receiving their method from the drug shop and 98% intended to get the next injection from the drug shop. Between April and June 2011, clinics, CHWs, and drug shops in 3 districts delivered equivalent proportions of couple-years of protection, with drug shops leading marginally at 36

  1. Serum vitamin D and the metabolic syndrome among osteoporotic postmenopausal female patients of a family practice clinic in Jordan.

    Science.gov (United States)

    Yasein, Nada; Shroukh, Wejdan; Hijjawi, Razan

    2015-01-01

    Vitamin D deficiency and insufficiency and the metabolic syndrome are two common health issues worldwide. The association between these two health problems is subject to debate. This study aims to investigate the association between vitamin D deficiency or insufficiency and the metabolic syndrome in a sample of osteoporotic postmenopausal women attending a family practice clinic in Amman-Jordan. This was an observational cross sectional study. It was carried out in the family practice clinic in Jordan University Hospital. The study included all postmenopausal osteoporotic women attending the clinic between June 2011 and May 2012, yielding a total of 326 subjects. The association between metabolic syndrome and serum vitamin D levels was investigated. Waist circumference, body mass index, triglycerides and fasting blood sugar were significantly higher among postmenopausal women with metabolic syndrome, but HDL cholesterol was significantly lower (pmetabolic syndrome among all study participants was 42.9%. Triglycerides and LDL cholesterol were significantly higher among women deficiency or insufficiency (pmetabolic syndrome, the prevalence of vitamin D deficiency or insufficiency was 50.7%. Findings of the current study suggest a lack of relationship between serum vitamin D and metabolic syndrome. However, a significant inverse relationship was found between serum vitamin D levels and both serum triglycerides and LDL levels.

  2. Senior health clinics: are they financially viable?

    Science.gov (United States)

    McAtee, Robin E; Crandall, Debra; Wright, Larry D; Beverly, Claudia J

    2009-07-01

    Are hospital-based outpatient interdisciplinary clinics a financially viable alternative for caring for our burgeoning population of older adults in America? Although highly popular, with high patient satisfaction rates among older adults and their families, senior health clinics (SHCs) can be expensive to operate, with limited quantifiable health outcomes. This study analyzed three geriatric hospital-based interdisciplinary clinics in rural Arkansas by examining their patient profiles, revenues, and expenses. It closely examined the effects of the downstream revenue using the multiplier effect and acknowledged other factors that weigh heavily on the success of SHCs and the care of older adults. The findings highlight the similarities and differences in the three clinics' operating and financial structures in addition to the clinics' and providers' productivity. The analysis presents an evidence-based illustration that SHCs can break even or lose large amounts of money.

  3. CONFIRMATION OF X-LINKED INHERITANCE AND PROVISIONAL MAPPING OF THE KERATOSIS FOLLICULARIS SPINULOSA DECALVANS GENE ON XP IN A LARGE DUTCH FAMILY

    NARCIS (Netherlands)

    Oosterwijk, JC; NELEN, M; VANZANDVOORT, PM; VANOSCH, LDM; ORANJE, AP; WITTEBOLPOST, D; VANOOST, BA

    In a large Dutch family with keratosis follicularis spinulosa decalvans (KFSD, MIM 308800), DNA linkage analysis was performed in order to locate the gene. Pedigree analysis and lod score calculation confirmed X-linked inheritance and revealed significant linkage to DNA markers on Xp. A maximum lod

  4. Learning to Voice? The Evolving Roles of Family Farmers in the Coordination of Large-Scale Irrigation Schemes in Morocco

    Directory of Open Access Journals (Sweden)

    Nicolas Faysse

    2010-02-01

    Full Text Available In Morocco, large-scale irrigation schemes have evolved over the past twenty years from the centralised management of irrigation and agricultural production into more complex multi-actor systems. This study analysed whether, and how, in the context of state withdrawal, increased farmer autonomy and political liberalisation, family farmers currently participate in the coordination and negotiation of issues that affect them and involve scheme-level organisations. Issues related to water management, the sugar industry and the dairy sector were analysed in five large-scale irrigation schemes. Farmer organisations that were set up to intervene in water management and sugar production were seen to be either inactive or to have weak links with their constituency; hence, the irrigation administration and the sugar industry continue to interact directly with farmers in a centralised way. Given their inability to voice their interests, when farmers have the opportunity, many choose exit strategies, for instance by resorting to the use of groundwater. In contrast, many community-based milk collection cooperatives were seen to function as accountable intermediaries between smallholders and dairy firms. While, as in the past, family farmers are still generally not involved in decision making at scheme level, in the milk collection cooperatives studied, farmers learn to coordinate and negotiate for the development of their communities.

  5. A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family.

    Science.gov (United States)

    Liu, Mugen; Wang, Xu; Cai, Zhou; Tang, Zhaohui; Cao, Kangsheng; Liang, Bo; Ren, Xiang; Liu, Jing Yu; Wang, Qing K

    2006-01-01

    Brachydactyly type A1 (BDA1) is caused by mutations in the Indian hedgehog gene, IHH, on chromosome 2q35-36. In this study, a large five-generation Chinese family with BDA1 was identified and characterized. All affected family members demonstrated significant homogeneous phenotype and some unique clinical features different from those associated with the reported BDA1 mutations in IHH. Linkage analysis showed that the BDA1 gene in the family was linked to marker D2S126 close to IHH with a LOD score of 4.74 at a recombination fraction of 0. DNA sequence analysis revealed a heterozygous C to T transition at nucleotide 461 of IHH, resulting in a novel T154I substitution. The T154I mutation co-segregated with all affected individuals in the family, and was not present in normal family members or 200 normal controls. These results expand the spectrum of clinical phenotype associated with IHH mutations.

  6. Trends in family tourism

    Directory of Open Access Journals (Sweden)

    Heike A. Schänzel

    2015-03-01

    Full Text Available Purpose – Families represent a large and growing market for the tourism industry. Family tourism is driven by the increasing importance placed on promoting family togetherness, keeping family bonds alive and creating family memories. Predictions for the future of family travel are shaped by changes in demography and social structures. With global mobility families are increasingly geographically dispersed and new family markets are emerging. The purpose of this paper is to discuss the trends that shape the understanding of families and family tourism. Design/methodology/approach – This paper examines ten trends that the authors as experts in the field identify of importance and significance for the future of family tourism. Findings – What emerges is that the future of family tourism lies in capturing the increasing heterogeneity, fluidity and mobility of the family market. Originality/value – The paper contributes to the understanding about the changes taking place in family tourism and what it means to the tourism industry in the future.

  7. 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.

  8. Depression among family caregivers of community-dwelling older people who used services under the Long Term Care Insurance program: a large-scale population-based study in Japan.

    Science.gov (United States)

    Arai, Yumiko; Kumamoto, Keigo; Mizuno, Yoko; Washio, Masakazu

    2014-01-01

    To identify predictors for depression among family caregivers of community-dwelling older people under the Long Term Care Insurance (LTCI) program in Japan through a large-scale population-based survey. All 5938 older people with disabilities, using domiciliary services under the LTCI in the city of Toyama, and their family caregivers participated in this study. Caregiver depression was defined as scores of ≥16 on the Center for Epidemiological Studies Depression Scale (CES-D). Other caregiver measures included age, sex, hours spent caregiving, relationship to the care recipient, income adequacy, living arrangement, self-rated health, and work status. Care recipient measures included age, sex, level of functional disability, and severity of dementia. The data from 4128 pairs of the care recipients and their family caregivers were eligible for further analyses. A multiple logistic regression analysis was used to examine the predictors associated with being at risk of clinical depression (CES-D of ≥16). Overall, 34.2% of caregivers scored ≥16 on the CES-D. The independent predictors for depression by logistic regression analysis were six caregiver characteristics (female, income inadequacy, longer hours spent caregiving, worse subjective health, and co-residence with the care recipient) and one care-recipient characteristic (moderate dementia). This is one of the first population-based examinations of caregivers of older people who are enrolled in a national service system that provides affordable access to services. The results highlighted the importance of monitoring caregivers who manifest the identified predictors to attenuate caregiver depression at the population level under the LTCI.

  9. Pre-clinical medical student experience in a pediatric pulmonary clinic

    Directory of Open Access Journals (Sweden)

    Thomas G. Saba

    2015-11-01

    Full Text Available Objective: Our objective was to evaluate the educational value of introducing pre-clinical medical students to pediatric patients and their families in a subspecialty clinic setting. Methods: First- and second-year medical students at the University of Michigan seeking clinical experience outside of the classroom attended an outpatient pediatric pulmonary clinic. Evaluation of the experience consisted of pre- and post-clinic student surveys and post-clinic parent surveys with statements employing a four-point Likert scale as well as open-ended questions. Results: Twenty-eight first-year students, 6 second-year students, and 33 parents participated in the study. Post-clinic statement scores significantly increased for statements addressing empathic attitudes, confidence communicating with children and families, comfort in the clinical environment, and social awareness. Scores did not change for statements addressing motivation, a sense of team membership, or confidence with career goals. Students achieved their goals of gaining experience interacting with patients, learning about pulmonary diseases, and observing clinic workflow. Parents felt that they contributed to student education and were not inconvenienced. Conclusions: Students identified several educational benefits of exposure to a single pediatric pulmonary clinic. Patients and families were not inconvenienced by the participation of a student. Additional studies are warranted to further investigate the value of this model of pre-clinical medical student exposure to subspecialty pediatrics.

  10. Integrating Intimate Partner Violence Screening and Counseling in a Family Planning Clinic: Evaluation of a Pilot Project in Conakry, Guinea.

    Science.gov (United States)

    Samandari, Ghazaleh; Delamou, Alexandre; Traore, Pernamou; Diallo, Fatoumata Guilinty; Millimono, Sita; Camara, Bienvenu Salim; Laffe, Kira; Verani, Fabio; Tolliver, Maimouna

    2016-06-01

    Few programs exist to address Intimate Partner Violence (IPV) in Guinea. In 2014, Engender Health, in partnership with the local health authorities in Conakry, Guinea, piloted an integrated approach to IPV screening and counseling, within an existing family planning clinic. This article describes both the process of formulating and implementing this approach, as well as the results of an evaluation of the program. From January to June of 2014, Engender Health staff trained midwives at the Conakry International Planned Parenthood Federation family planning clinic staff in screening and counseling client for IPV. Program evaluators used project records, interview with program staff (n=3), midwives (n=3) and client exit interviews (n=53) to measure the outcomes of this pilot project. Regardless of their IPV status, clients appreciated having a venue in which to discuss IPV. Program staff also felt empowered by the additional training and support for IPV screening. The evaluation yielded valuable suggestions for improvement, including more time for staff training and mock client interview practice, additional skills in counseling, and stronger referral links for women who screen positive for IPV. Integrating IPV screening into family planning services is an important and feasible method for reaching vulnerable women with IPV services.

  11. Profiling Fast Healthcare Interoperability Resources (FHIR) of Family Health History based on the Clinical Element Models.

    Science.gov (United States)

    Lee, Jaehoon; Hulse, Nathan C; Wood, Grant M; Oniki, Thomas A; Huff, Stanley M

    2016-01-01

    In this study we developed a Fast Healthcare Interoperability Resources (FHIR) profile to support exchanging a full pedigree based family health history (FHH) information across multiple systems and applications used by clinicians, patients, and researchers. We used previously developed clinical element models (CEMs) that are capable of representing the FHH information, and derived essential data elements including attributes, constraints, and value sets. We analyzed gaps between the FHH CEM elements and existing FHIR resources. Based on the analysis, we developed a profile that consists of 1) FHIR resources for essential FHH data elements, 2) extensions for additional elements that were not covered by the resources, and 3) a structured definition to integrate patient and family member information in a FHIR message. We implemented the profile using an open-source based FHIR framework and validated it using patient-entered FHH data that was captured through a locally developed FHH tool.

  12. A comparative study of LRRK2, PINK1 and genetically undefined familial Parkinson's disease.

    Science.gov (United States)

    Nishioka, Kenya; Kefi, Mounir; Jasinska-Myga, Barbara; Wider, Christian; Vilariño-Güell, Carles; Ross, Owen A; Heckman, Michael G; Middleton, Lefkos T; Ishihara-Paul, Lianna; Gibson, Rachel A; Amouri, Rim; Ben Yahmed, Samia; Ben Sassi, Samia; Zouari, Mourad; El Euch, Ghada; Farrer, Matthew J; Hentati, Faycal

    2010-04-01

    Genetic classification of Parkinson's disease (PD) subtypes may become the preferred diagnostic tool for neurologists. Herein we compare clinical features from a large cohort of patients with familial PD of unknown aetiology or attributable to distinct genetic forms. Comprehensive neurological examinations were performed in 231 familial PD patients from Tunisia. Analysis was previously performed to screen for mutations in leucine rich repeat kinase 2 (LRRK2), PTEN induced kinase 1 (PINK1) and parkin (PRKN). Clinical features were compared between patients with genetically undefined PD (n=107) and those with LRRK2 (n=73) and PINK1 (n=42) mutations using regression analyses adjusted for gender, age of onset and disease duration. PRKN cases (n=9) were too few for meaningful statistical analysis. In comparison with genetically undefined patients, LRRK2 mutation carriers had more severe motor symptoms (median Unified Parkinson's Disease Rating Scale scores approximately 1.6 times higher, pundefined patients. As expected, PINK1 patients had younger ages and ages at disease onset, and a longer disease duration compared with LRRK2 mutation carriers and genetically undefined patients. Clinical differences between LRRK2, PINK1 and genetically undefined familial PD appear more pronounced than previously appreciated, and may prove useful in clinical practice. As future therapies are targeted to specific protein abnormalities, identifying the genetic causes and associated clinical and pathological features will determine diagnosis, preventative medicine and drug intervention strategies.

  13. Assessment of dizziness among older patients at a family practice clinic: a chart audit study

    Directory of Open Access Journals (Sweden)

    Pimlott Nicholas JG

    2005-01-01

    Full Text Available Abstract Background Dizziness is a common complaint among the elderly with a prevalence of over 30% in people over the age of 65. Although it is a common problem the assessment and management of dizziness in the elderly is challenging for family physicians. There is little published research which assesses the quality of dizziness assessment and management by family physicians. Methods We conducted a retrospective, chart audit study of patients with dizziness attending the Sunnybrook Family Practice Center of Sunnybrook and Women's College Health Sciences Center (SWCHSC in Toronto. We audited a random sample of 50 charts of patients from 310 eligible charts. Quality indicators across all dizziness subtypes were assessed. These quality indicators included: onset and course of symptoms; symptoms in patients' own words; number of medications used; postural blood pressure changes; symptoms of depression or anxiety; falls; syncope; diagnosis; outcome; specialty referrals. Quality indicators specific to each dizziness subtype were also audited. Results 310 charts satisfied inclusion criteria with 20 charts excluded and 50 charts were randomly generated. Documentation of key quality indicators in the management of dizziness was sub-optimal. Charts documenting patients' dizziness symptoms in their own words were more likely to have a clinical diagnosis compared to charts without (P = 0.002. Conclusions Documentation of selected key quality indicators could be improved, especially that of patients' symptoms in their own words.

  14. Mutation in TWINKLE in a Large Iranian Family with Progressive External Ophthalmoplegia, Myopathy, Dysphagia and Dysphonia, and Behavior Change.

    Science.gov (United States)

    Tafakhori, Abbas; Yu Jin Ng, Alvin; Tohari, Sumanty; Venkatesh, Byrappa; Lee, Hane; Eskin, Ascia; Nelson, Stanley F; Bonnard, Carine; Reversade, Bruno; Kariminejad, Ariana

    2016-02-01

    TWINKLE (c10orf2) gene is responsible for autosomal dominant progressive external ophthalmoplegia (PEO). In rare cases, additional features such as muscle weakness, peripheral neuropathy, ataxia, cardiomyopathy, dysphagia, dysphonia, cataracts, depression, dementia, parkinsonism, and hearing loss have been reported in association with heterozygous mutations of the TWINKLE gene. We have studied a large Iranian family with myopathy, dysphonia, dysphagia, and behavior change in addition to PEO in affected members. We identified a missense mutation c.1121G > A in the c10orf2 gene in all affected members. Early death is a novel feature seen in affected members of this family that has not been reported to date. The association of PEO, myopathy, dysphonia, dysphagia, behavior change and early death has not been previously reported in the literature or other patients with this mutation.

  15. Homozygous familial hypercholesterolaemia

    DEFF Research Database (Denmark)

    Cuchel, Marina; Bruckert, Eric; Ginsberg, Henry N

    2014-01-01

    AIMS: Homozygous familial hypercholesterolaemia (HoFH) is a rare life-threatening condition characterized by markedly elevated circulating levels of low-density lipoprotein cholesterol (LDL-C) and accelerated, premature atherosclerotic cardiovascular disease (ACVD). Given recent insights into the......AIMS: Homozygous familial hypercholesterolaemia (HoFH) is a rare life-threatening condition characterized by markedly elevated circulating levels of low-density lipoprotein cholesterol (LDL-C) and accelerated, premature atherosclerotic cardiovascular disease (ACVD). Given recent insights...... into the heterogeneity of genetic defects and clinical phenotype of HoFH, and the availability of new therapeutic options, this Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society (EAS) critically reviewed available data with the aim of providing clinical guidance...... 5 and no later than 8 years. The number of therapeutic approaches has increased following approval of lomitapide and mipomersen for HoFH. Given the severity of ACVD, we recommend regular follow-up, including Doppler echocardiographic evaluation of the heart and aorta annually, stress testing and...

  16. Familial gigantiform cementoma

    Energy Technology Data Exchange (ETDEWEB)

    Han, Won Jeong; Kim, Eun Kyung [Dankook Univ. School of Dentistry, Seoul (Korea, Republic of)

    2006-09-15

    Familial gigantiform cementoma is a rate fibro-cemento-osseous disease of the jaws which appears to be transmitted as an autosomal dominant trait with variable expressivity of the phenotype. A 7-year-old girl visited DKUDH complaining of the painless facial deformity. Clinically, significant facie-lingual expansion was observed at the left maxilla, left mandibular body and symphysis portion. Malposition of lower anterior teeth was found. Panoramic radiograph and CT scan showed the extensive expandile mixed lesion at maxilla and mandible. Bone scan revealed hot spot at the maxilla and left side of mandible. Histologic examination revealed moderately dense fibrous connective tissue with scattered masses resembling cementum. The patient's mother had a history of the mandibular resection due to benign tumor. Her younger brother had buccal expansion of right mandible. We report our finding of a family that has exhibited clinical, radiographic and histologic findings consistent with the familial gigantiform dementoma.

  17. A sewage disposal failure as a cause of ascariasis and giardiasis epidemic in a family.

    Science.gov (United States)

    Totkova, A; Klobusicky, M; Holkova, R; Valent, M; Stojkovicova, H

    2004-01-01

    In monitoring the incidence of intestinal parasites in children and employees of a nursery the authors examined 31 children with 8 (25.81%) and 16 employees with 3 (18.75%) positive results. The authors wanted to examine also the family members of 8 positive children and 3 positive employees but except from the cleaner's family, (Ascaris lumburicoides, Enterobius vermicularis and Entamoeba coli) nobody accepted the offer. All 8 members of a large family except for Patient 1 (a cleaner) and her grandson were without clinical and laboratory findings. They constitute 3 independent families who lived in 1st category flats. On August 31 there was an extensive sewage disposal failure in the ground floor flat of Family II and the flat was flooded by sewage. All family members worked solidarily on cleaning and also the members of Family IV who are friends of Family II. As shown by clinical symptoms of 'virosis', during the pre-patent period and after an outbreak within 73-78 days, laboratory findings of the family members demonstrated a severe family infection equal to a epidemic of intestinal parasitosis. Ascaris lumbricoides was diagnosed in 8 family members (61.54%) and Giardia intestinalis in 7 family members (53.85%) involved in cleaning. Enterobius vermicularis was found in 2 and Etamoeba coli in 1 family member. In monitored persons, in extreme hygienic conditions during the failure and later, a mass contraction arose on the basis of infection. The fact, that family epidemic arose subsequently, proved, in contrast to sporadic findings in children and adults, a 6.4 and 3.3 times higher incidence of Ascaris lumbricoides and a 5.6 and 8.6 times higher incidence of Giardia intestinalis. The authors discus the reasons of incidence and also preventive measures in population. (Tab. 3, Ref. 29.).

  18. Sequence robust association test for familial data.

    Science.gov (United States)

    Dai, Wei; Yang, Ming; Wang, Chaolong; Cai, Tianxi

    2017-09-01

    Genome-wide association studies (GWAS) and next generation sequencing studies (NGSS) are often performed in family studies to improve power in identifying genetic variants that are associated with clinical phenotypes. Efficient analysis of genome-wide studies with familial data is challenging due to the difficulty in modeling shared but unmeasured genetic and/or environmental factors that cause dependencies among family members. Existing genetic association testing procedures for family studies largely rely on generalized estimating equations (GEE) or linear mixed-effects (LME) models. These procedures may fail to properly control for type I errors when the imposed model assumptions fail. In this article, we propose the Sequence Robust Association Test (SRAT), a fully rank-based, flexible approach that tests for association between a set of genetic variants and an outcome, while accounting for within-family correlation and adjusting for covariates. Comparing to existing methods, SRAT has the advantages of allowing for unknown correlation structures and weaker assumptions about the outcome distribution. We provide theoretical justifications for SRAT and show that SRAT includes the well-known Wilcoxon rank sum test as a special case. Extensive simulation studies suggest that SRAT provides better protection against type I error rate inflation, and could be much more powerful for settings with skewed outcome distribution than existing methods. For illustration, we also apply SRAT to the familial data from the Framingham Heart Study and Offspring Study to examine the association between an inflammatory marker and a few sets of genetic variants. © 2017, The International Biometric Society.

  19. 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

  20. Clinical and ERG data in a family with autosomal dominant RP and Pro-347-Arg mutation in the rhodopsin gene.

    Science.gov (United States)

    Niemeyer, G; Trüb, P; Schinzel, A; Gal, A

    1992-01-01

    In a family with autosomal dominant retinitis pigmentosa, documented over six generations, a previously undescribed point mutation in the rhodopsin gene could be identified. The mutation found in the six affected members examined but in none of the controls, including healthy members of the family, was a point mutation in codon 347 predicting a substitution of the amino acid arginine for proline, designated Pro-347-Arg. Six affected members from two generations were examined clinically and with ganzfeld rod and cone electroretinography. The cone and, more dramatically, the rod electroretinograms were reduced to residual b-wave amplitudes or were non-detectable as early as ages 18 to 22 years. The Pro-347-Arg mutation resulted in a subjectively and clinically homogeneous phenotype: early onset of night blindness before age 11, relatively preserved usable visual fields until about age 30, blindness at ages 40 to 60, and change from an initial apparently sine pigmento to a hyperpigmented and atrophic fundus picture between 30 and 50 years of age.

  1. Ela2 mutations and clinical manifestations in familial congenital neutropenia.

    Science.gov (United States)

    Shiohara, Masaaki; Shigemura, Tomonari; Saito, Shoji; Tanaka, Miyuki; Yanagisawa, Ryu; Sakashita, Kazuo; Asada, Hiroshi; Ishii, Eizaburo; Koike, Kazutoshi; Chin, Motoaki; Kobayashi, Masao; Koike, Kenichi

    2009-05-01

    Three familial cases of each of severe congenital neutropenia (SCN) and cyclic neutropenia (CN) in addition to 3 sporadic cases of SCN were analyzed for neutrophil elastase (Ela2) gene mutation. The contents of the neutrophil-specific granule proteins cathelicidin antimicrobial peptide and neutrophil gelatinase-associated lipocalin were also analyzed in SCN. Genomic DNA was extracted from the patients' peripheral blood or bone marrow, and the coding sequence of the Ela2 gene was amplified by polymerase chain reaction and subjected to direct sequencing. The contents of antimicrobial peptides were analyzed by flow cytometry. Three cases of familial SCN (P13L, R52P, and S97L), 2 of familial CN (W212stop and P110L), and 1 of sporadic SCN (V72M) were shown to have heterozygous mutations in the Ela2 gene. W212stop found in a familial CN case was a novel mutation of Ela2. Prophylactic treatment for growth factors or antibiotic prophylaxis against bacterial infection was useful for lowering the frequency of infectious episodes. Adult patients tended to have less frequent infections compared with minors in the same family. The contents of both cathelicidin antimicrobial peptide and neutrophil gelatinase-associated lipocalin were significantly reduced in SCN compared with healthy controls. Prophylaxis by growth factor or antibiotics is useful for decreasing risks of bacterial infections in SCN and CN. Adults were likely to have less frequent infections than children in familial cases of SCN and CN with the same mutation of Ela2.

  2. Family history, surgery, and APC mutation are risk factors for desmoid tumors in familial adenomatous polyposis: an international cohort study

    DEFF Research Database (Denmark)

    Nieuwenhuis, Marry H; Lefevre, Jérémie H; Bülow, Steffen

    2011-01-01

    Ability to identify patients with familial adenomatous polyposis who have a high risk of developing desmoid tumors may affect decisions in clinical practice.......Ability to identify patients with familial adenomatous polyposis who have a high risk of developing desmoid tumors may affect decisions in clinical practice....

  3. [Diversification is the financial alternative for family planning].

    Science.gov (United States)

    Castro Villamil, R

    1991-12-01

    During the 1960s, when family planning services were institutionalized in Colombia by PROFAMILIA, abundant foreign assistance was readily available. Few questions were asked about the longterm funding of family planning programs or the need for financial self-sufficiency. The emphasis was on program development without great attention to costs. Beginning around the early 1980s, international donors began to place a higher priority and greater investment in the incipient family planning programs of less developed countries. At present a greater number and higher quality of services are being demanded from PROFAMILIA at the lowest possible cost. Efficiency has replaced efficacy as the overriding goal. PROFAMILIA, due to its excellent results, has lost priority in the eyes of international donors. It has therefore reoriented its financing strategies toward a short, medium, and long term plan to reduce its financial dependence on international donor agencies. Self-sufficiency could be increased through various means, including total government subsidy, charging fees for services and materials sufficient to cover program costs, establishing services and marketing programs aside from family planning programs for the specific purpose of obtaining funds to cover program deficits, or establishing accounting and operational controls to reduce costs through greater efficiency. But large government subsidies are unlikely in a time of budgetary constraints, and raising fees for family planning users would exclude a large number of low-income clients from the family planning program. Cost reduction and implementation of diversified programs should therefore be emphasized for the present. The diversified program should be related to family planning so that use can be made of idle resources. PROFAMILIA has emphasized surgical procedures and medical consultations to utilize clinic facilities more fully and to increase income without increasing fixed costs. In 1990, foreign

  4. Dermatologic care in the homeless and underserved populations: observations from the Venice Family Clinic.

    Science.gov (United States)

    Grossberg, Anna L; Carranza, Dafnis; Lamp, Karen; Chiu, Melvin W; Lee, Catherine; Craft, Noah

    2012-01-01

    Dermatologic care in the homeless and impoverished urban underserved populations is rarely described despite the wide prevalence of skin concerns in this population. Because the homeless population may be subject to increased sun exposure compared to the nonhomeless population, they also may be at increased risk for skin cancer. We sought to describe the spectrum of dermatologic diseases seen in a free clinic in Venice, California--the Venice Family Clinic (VFC)--as well as the differences in diagnoses between the homeless and nonhomeless patients seen at this clinic. A retrospective chart review was performed of dermatology patients (N = 82) seen at VFC throughout the 2006 calendar year. The homeless population (n = 22) was found to have more diagnoses of malignant/premalignant growths (25% [16/64] of all homeless diagnoses) compared to their nonhomeless (n = 60) counterparts (6.1% [8/132] of all nonhomeless diagnoses; P < .0001). This difference was sustained when ethnicity was controlled, with 29.6% [16/54] of diagnoses in the homeless white group consisting of malignant/ premalignant growths compared to 8.9% [4/45] of diagnoses in the nonhomeless white cohort (P < .005). Homeless patients may have a higher incidence of skin cancers and precancerous skin lesions due to increased sun exposure and/or limited access to dermatologic care.

  5. Isolated familial somatotropinomas: clinical features and analysis of the MEN1 gene.

    Science.gov (United States)

    De Menis, Ernesto; Prezant, Toni R

    2002-01-01

    Isolated familial somatotropinomas (IFS) rarely occurs in the absence of multiple endocrine neoplasia type I (MEN1) or the Carney complex. In the present study we report two Italian siblings affected by GH-secreting adenomas. There was no history of parental consanguinity. The sister presented at 18 years of age with secondary amenorrhea and acromegalic features and one of her two brothers presented with gigantism at the same age. Endocrinological investigations confirmed GH hypersecretion in both cases. Although a pituitary microadenoma was detected in both patients, transsphenoidal surgery was not successful. The sister received conventional radiotherapy and acromegaly is now considered controlled; the brother is being treated with octreotide LAR 30 mg monthly and the disease is considered clinically active. Patients, their parents and the unaffected brother underwent extensive evaluation, and no features of MEN1 or Carney complex were found. Analysis of polymorphic microsatellite markers from chromosome 11q13 (D11S599, D11S4945, D11S4939, D11S4938 and D11S987) showed that the acromegalic siblings had inherited different maternal chromosomes and shared the paternal chromosome. No pathogenic MEN1 sequence changes were detected by sequencing or dideoxy fingerprinting of the coding sequence (exons 2-10) and exon/intron junctions. Although mutations in the promoter, introns or untranslated regions of the MEN1 gene cannot be excluded, germline mutations within the coding region of this gene do not appear responsible for IFS in this family.

  6. Clinical features of depression in Asia: results of a large prospective, cross-sectional study.

    Science.gov (United States)

    Srisurapanont, Manit; Hong, Jin Pyo; Tian-Mei, Si; Hatim, Ahmad; Liu, Chia-Yih; Udomratn, Pichet; Bae, Jae Nam; Fang, Yiru; Chua, Hong Choon; Liu, Shen-Ing; George, Tom; Bautista, Dianne; Chan, Edwin; Rush, A John

    2013-12-01

    The objective of this study was to investigate the clinical features of depression in Asian patients. It was a cross-sectional, observational study of depression in China, Korea, Malaysia, Singapore, Taiwan, and Thailand. Participants were drug-free outpatients with depressed mood and/or anhedonia. Symptoms and clinical features were assessed using the Montgomery-Asberg Depression Rating Scale, Symptoms Checklist 90-Revised (SCL-90-R), and the Fatigue Severity Scale. Other measures included the Medical Outcome Survey 36-Item Short-Form Health Survey (SF-36), the Sheehan Disability Scale, and the Multidimensional Scale of Perceived Social Support (MSPSS). A total of 547 outpatients with major depressive disorder were included in the analyses. Among the Montgomery-Asberg Depression Rating Scale symptoms, "reported sadness" and "reduced sleep" had the highest severity, with means (SDs) of 3.4 (1.2) and 3.4 (1.6), respectively. Apart from the SCL-90-R depression and anxiety domains, the SCL-90-R obsession-compulsion syndrome had the highest domain score, with a mean (SD) of 1.9 (0.9). Among eight domains, the mean (SD) SF-36 pain subscale score of 58.4 (27.7) was only second to that for the SF-36 physical function. In comparison to other disability domains, the Sheehan Disability Scale work/school had the highest subscale score, with a mean (SD) of 6.5 (2.9). The mean (SD) MSPSS "family" subscale score of 4.7 (1.7) was higher than the MSPSS "friends" and "significant others" subscale scores. This study suggests that pain has a minimal impact on the quality of life in Asian patients with depression. Noteworthy issues in this population may include insomnia, obsessive-compulsive symptoms, working/school disability, and family support. Copyright © 2013 Wiley Publishing Asia Pty Ltd.

  7. A profile of travelers--an analysis from a large swiss travel clinic.

    Science.gov (United States)

    Bühler, Silja; Rüegg, Rolanda; Steffen, Robert; Hatz, Christoph; Jaeger, Veronika K

    2014-01-01

    Globally, the Swiss have one of the highest proportions of the population traveling to tropical and subtropical countries. Large travel clinics serve an increasing number of customers with specific pre-travel needs including uncommon destinations and preexisting medical conditions. This study aims to identify health characteristics and travel patterns of travelers seeking advice in the largest Swiss travel clinic so that tailored advice can be delivered. A descriptive analysis was performed on pre-travel visits between July 2010 and August 2012 at the Travel Clinic of the Institute of Social and Preventive Medicine, University of Zurich, Switzerland. A total of 22,584 travelers sought pre-travel advice. Tourism was the main reason for travel (17,875, 81.5%), followed by visiting friends and relatives (VFRs; 1,715, 7.8%), traveling for business (1,223, 5.6%), and "other reasons" (ie, volunteer work, pilgrimage, study abroad, and emigration; 1,112, 5.1%). The main travel destination was Thailand. In the VFR group, the highest proportions of traveling children (258, 15.1%) and of pregnant or breastfeeding women (23, 3.9%) were observed. Mental disorders were more prominent in VFRs (93, 5.4%) and in travel for "other reasons" (63, 5.7%). The latter stayed for the longest periods abroad; 272 (24.9%) stayed longer than 6 months. VFR travelers received the highest percentage of yellow fever vaccinations (523, 30.5%); in contrast, rabies (269, 24.2%) and typhoid vaccinations (279, 25.1%) were given more often to the "other travel reasons" group. New insights into the characteristics of a selected and large population of Swiss international travelers results in improved understanding of the special needs of an increasingly diverse population and, thus, in targeted preventive advice and interventions. © 2014 International Society of Travel Medicine.

  8. Anticipation in a family with primary familial brain calcification caused by an SLC20A2 variant.

    Science.gov (United States)

    Konno, Takuya; Blackburn, Patrick R; Rozen, Todd D; van Gerpen, Jay A; Ross, Owen A; Atwal, Paldeep S; Wszolek, Zbigniew K

    2018-04-11

    To describe a family with primary familial brain calcification (PFBC) due to SLC20A2 variant showing possible genetic anticipation. We conducted historical, genealogical, clinical, and radiologic studies of a family with PFBC. Clinical evaluations including neurological examination and head computed tomography (CT) scans of a proband and her father were performed. They provided additional information regarding other family members. To identify a causative gene variant, we performed whole-exome sequencing for the proband followed by segregation analysis in other affected members using direct sequencing. In this family, nine affected members were identified over four generations. The proband suffered from chronic daily headache including thunderclap headache. We identified an SLC20A2 (c.509delT, p.(Leu170*)) variant in three affected members over three generations. Interestingly, the age of onset became younger as the disease passed through successive generations, suggestive of genetic anticipation. For clinical purpose, it is important to consider thunderclap headache and genetic anticipation in PFBC caused by SLC20A2 variants. Further investigation is required to validate our observation. Copyright © 2018 Polish Neurological Society. Published by Elsevier Urban & Partner Sp. z o.o. All rights reserved.

  9. Members of a large retroposon family are determinants of post-transcriptional gene expression in Leishmania.

    Directory of Open Access Journals (Sweden)

    Frédéric Bringaud

    2007-09-01

    Full Text Available Trypanosomatids are unicellular protists that include the human pathogens Leishmania spp. (leishmaniasis, Trypanosoma brucei (sleeping sickness, and Trypanosoma cruzi (Chagas disease. Analysis of their recently completed genomes confirmed the presence of non-long-terminal repeat retrotransposons, also called retroposons. Using the 79-bp signature sequence common to all trypanosomatid retroposons as bait, we identified in the Leishmania major genome two new large families of small elements--LmSIDER1 (785 copies and LmSIDER2 (1,073 copies--that fulfill all the characteristics of extinct trypanosomatid retroposons. LmSIDERs are approximately 70 times more abundant in L. major compared to T. brucei and are found almost exclusively within the 3'-untranslated regions (3'UTRs of L. major mRNAs. We provide experimental evidence that LmSIDER2 act as mRNA instability elements and that LmSIDER2-containing mRNAs are generally expressed at lower levels compared to the non-LmSIDER2 mRNAs. The considerable expansion of LmSIDERs within 3'UTRs in an organism lacking transcriptional control and their role in regulating mRNA stability indicate that Leishmania have probably recycled these short retroposons to globally modulate the expression of a number of genes. To our knowledge, this is the first example in eukaryotes of the domestication and expansion of a family of mobile elements that have evolved to fulfill a critical cellular function.

  10. Results of a voter registration project at 2 family medicine residency clinics in the Bronx, New York.

    Science.gov (United States)

    Liggett, Alisha; Sharma, Manisha; Nakamura, Yumiko; Villar, Ryna; Selwyn, Peter

    2014-01-01

    Federally qualified health centers provide care to medically underserved populations, the same individuals often underrepresented in the electoral process. These centers are unique venues to access patients for voter registration services. We undertook a clinician-led, nonpartisan voter registration drive within 2 university-affiliated federally qualified health centers in the Bronx, New York. Patients were approached by voter registration volunteers in clinic waiting areas during a 12-week period. Volunteers directly engaged with 304 patients. Of the 128 patients who were eligible and not currently registered, 114 (89%) registered to vote through this project. This number corresponded to 38% of all patients engaged. Sixty-five percent of new registrants were aged younger than 40 years. This project was successful in registering clinic patients to vote. Clinics are not only health centers, but also powerful vehicles for bringing a voice to civically disenfranchised communities. © 2014 Annals of Family Medicine, Inc.

  11. The Scourge of the Spurge Family-An Imitator of Rhus Dermatitis.

    Science.gov (United States)

    Huerth, Kimberly A; Hawkes, Jason E; Meyer, Laurence J; Powell, Douglas L

    The Euphorbiaceae family (commonly known as "spurge") is a large, diverse, and widely distributed family of plants that encompass around 300 genera and more than 8000 species. Their attractiveness and hearty nature have made them popular for both indoor ornamentation and outdoor landscaping. Despite their ubiquity, the potential to cause irritant contact dermatitis (ICD) is often overlooked in favor of more notorious causes of phytodermatitis, namely, Toxicodendron species and nettles. We examined case reports spanning 40 years and discovered that spurge-induced ICD tends to befall children and middle-aged adults who unwittingly encounter the plant through play or horticulture, respectively. Clinical presentation is pleomorphic. Erythema, edema, burning, vesicles, and pruritus of acute onset and rapid resolution are frequently observed. We present a classic case of ICD in a 12-year-old girl after exposure to Euphorbia myrsinites and review the literature on phytodermatitis caused by members of the Euphorbiaceae family.

  12. Familial Kleine-Levin Syndrome: A Specific Entity?

    Science.gov (United States)

    Nguyen, Quang Tuan Remy; Groos, Elisabeth; Leclair-Visonneau, Laurène; Monaca-Charley, Christelle; Rico, Tom; Farber, Neal; Mignot, Emmanuel; Arnulf, Isabelle

    2016-08-01

    Kleine-Levin syndrome (KLS) is a rare, mostly sporadic disorder, characterized by intermittent episodes of hypersomnia plus cognitive and behavior disorders. Although its cause is unknown, multiplex families have been described. We contrasted the clinical and biological features of familial versus sporadic KLS. Two samples of patients with KLS from the United States and France (n = 260) were studied using clinical interviews and human leukocyte antigen (HLA) genotyping. A multiplex family contained two or more first- or second-degree affected relatives (familial cases). Twenty-one patients from 10 multiplex families (siblings: n = 12, including two pairs of monozygotic twins; parent-child: n = 4; cousins: n = 2; uncle-nephews: n = 3) and 239 patients with sporadic KLS were identified, yielding to 4% multiplex families and 8% familial cases. The simplex and multiplex families did not differ for autoimmune, neurological, and psychiatric disorders. Age, sex ratio, ethnicity, HLA typing, karyotyping, disease course, frequency, and duration of KLS episodes did not differ between groups. Episodes were less frequent in familial versus sporadic KLS (2.3 ± 1.8/y versus 3.8 ± 3.7/y, P = 0.004). Menses triggered more frequently KLS onset in the nine girls with familial KLS (relative risk, RR = 4.12, P = 0.03), but not subsequent episodes. Familial cases had less disinhibited speech (RR = 3.44, P = 0.049), less combined hypophagia/hyperphagia (RR = 4.38, P = 0.006), more abrupt termination of episodes (RR = 1.45, P = 0.04) and less postepisode insomnia (RR = 2.16, P = 0.008). There was similar HLA DQB1 distribution in familial versus sporadic cases and no abnormal karyotypes. Familial KLS is mostly present in the same generation, and is clinically similar to but slightly less severe than sporadic KLS. © 2016 Associated Professional Sleep Societies, LLC.

  13. Social Support as a Key Protective Factor against Depression in HIV-Infected Patients: Report from large HIV clinics in Hanoi, Vietnam.

    Science.gov (United States)

    Matsumoto, Shoko; Yamaoka, Kazue; Takahashi, Kenzo; Tanuma, Junko; Mizushima, Daisuke; Do, Cuong Duy; Nguyen, Dung Thi; Nguyen, Hoai Dung Thi; Nguyen, Kinh Van; Oka, Shinichi

    2017-11-14

    Depression is the most common mental health issue among people living with HIV/AIDS (PLWHA). This study explored how different types and sources of social support are associated with depression among HIV-infected patients in Vietnam. We carried out a cross-sectional survey on 1,503 HIV-infected patients receiving antiretroviral therapy at two HIV clinics in Hanoi in 2016. Depression was prevalent in 26.2% of participants. Higher score of social support, especially emotional/informational support and positive social interaction, showed significant association with lower depression rate. Although family was primary source of all types of social support, receiving emotional/informational support not only from family but also from outside of family correlated with a lower proportion of depression. In countries with constrained social resources and/or with family-oriented social structures, as in Vietnam, expanding social networks between HIV populations and society is a potentially important option for reducing depression.

  14. Performance of informative priors skeptical of large treatment effects in clinical trials: A simulation study.

    Science.gov (United States)

    Pedroza, Claudia; Han, Weilu; Thanh Truong, Van Thi; Green, Charles; Tyson, Jon E

    2018-01-01

    One of the main advantages of Bayesian analyses of clinical trials is their ability to formally incorporate skepticism about large treatment effects through the use of informative priors. We conducted a simulation study to assess the performance of informative normal, Student- t, and beta distributions in estimating relative risk (RR) or odds ratio (OR) for binary outcomes. Simulation scenarios varied the prior standard deviation (SD; level of skepticism of large treatment effects), outcome rate in the control group, true treatment effect, and sample size. We compared the priors with regards to bias, mean squared error (MSE), and coverage of 95% credible intervals. Simulation results show that the prior SD influenced the posterior to a greater degree than the particular distributional form of the prior. For RR, priors with a 95% interval of 0.50-2.0 performed well in terms of bias, MSE, and coverage under most scenarios. For OR, priors with a wider 95% interval of 0.23-4.35 had good performance. We recommend the use of informative priors that exclude implausibly large treatment effects in analyses of clinical trials, particularly for major outcomes such as mortality.

  15. Developing Federal Clinical Care Recommendations for Women.

    Science.gov (United States)

    Godfrey, Emily M; Tepper, Naomi K; Curtis, Kathryn M; Moskosky, Susan B; Gavin, Loretta E

    2015-08-01

    The provision of family planning services has important health benefits for the U.S. Approximately 25 million women in the U.S. receive contraceptive services annually and 44 million make at least one family planning-related clinical visit each year. These services are provided by private clinicians, as well as publicly funded clinics, including specialty family planning clinics, health departments, Planned Parenthoods, community health centers, and primary care clinics. Recommendations for providing quality family planning services have been published by CDC and the Office of Population Affairs of the DHHS. This paper describes the process used to develop the women's clinical services portion of the new recommendations and the rationale underpinning them. The recommendations define family planning services as contraceptive care, pregnancy testing and counseling, achieving pregnancy, basic infertility care, sexually transmitted disease services, and preconception health. Because many women who seek family planning services have no other source of care, the recommendations also include additional screening services related to women's health, such as cervical cancer screening. These clinical guidelines are aimed at providing the highest-quality care and are designed to establish a national standard for family planning in the U.S. Published by Elsevier Inc.

  16. Family Spirituality and Family Health Among Korean-American Elderly Couples.

    Science.gov (United States)

    Kim, Suk-Sun; Kim-Godwin, Yeoun Soo; Koenig, Harold G

    2016-04-01

    Spirituality has been regarded as an individual and private matter; consequently, research on spirituality as a family phenomenon has been largely neglected. In addition, most published research has been focused on Western cultures. The purpose of this study was to explore the experience of family spirituality and how it influences health among Korean-American elderly couples who are the first generation to reside in the Southeastern USA. A thematic and interpretive data analysis method was used. Thirteen elderly couples (N = 26) participated in in-depth individual interviews in Korean with the primary author. Interviews were audio-taped, transcribed, and then translated by two bilingual researchers with a background in Korean and American culture. Three main themes of family spirituality were identified: (1) family togetherness, (2) family interdependence, and (3) family coping. Also, participants reported that family spirituality strengthened family health by fostering family commitment, improving emotional well-being, developing new healthy behaviors, and providing healing experiences. This finding implies that healthcare providers need to assess family spiritual issues of elderly couples to maximize their strengths for coping with health problems. As our society becomes more culturally diverse, healthcare providers should seek to understand family spirituality from different cultural perspectives to develop a more holistic approach to care.

  17. A large variety of clinical features and concomitant disorders in celiac disease - A cohort study in the Netherlands

    NARCIS (Netherlands)

    Spijkerman, Marleen; Tan, Ineke L.; Kolkman, Jeroen J.; Withoff, Sebo; Wijmenga, Cisca; Visschedijk, Marijn C.; Weersma, Rinse K.

    Background and aims: Celiac disease (CeD) is a gluten triggered, immune-mediated disease of the small intestine. Few clinical cohort descriptions are available, despite the diverse clinical picture. This study provides an overview of a large Dutch CeD cohort focusing on presenting symptoms,

  18. Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family.

    Science.gov (United States)

    Kullar, Peter J; Gomez-Duran, Aurora; Gammage, Payam A; Garone, Caterina; Minczuk, Michal; Golder, Zoe; Wilson, Janet; Montoya, Julio; Häkli, Sanna; Kärppä, Mikko; Horvath, Rita; Majamaa, Kari; Chinnery, Patrick F

    2018-01-01

    The m.1555A>G mtDNA variant causes maternally inherited deafness, but the reasons for the highly variable clinical penetrance are not known. Exome sequencing identified a heterozygous start loss mutation in SSBP1, encoding the single stranded binding protein 1 (SSBP1), segregating with hearing loss in a multi-generational family transmitting m.1555A>G, associated with mtDNA depletion and multiple deletions in skeletal muscle. The SSBP1 mutation reduced steady state SSBP1 levels leading to a perturbation of mtDNA metabolism, likely compounding the intra-mitochondrial translation defect due to m.1555A>G in a tissue-specific manner. This family demonstrates the importance of rare trans-acting genetic nuclear modifiers in the clinical expression of mtDNA disease. © The Author (2017). Published by Oxford University Press on behalf of the Guarantors of Brain.

  19. Clinical and genetic investigation of a Japanese family with cardiac fabry disease. Identification of a novel α-galactosidase A missense mutation (G195V).

    Science.gov (United States)

    Nakagawa, Naoki; Maruyama, Hiroki; Ishihara, Takayuki; Seino, Utako; Kawabe, Jun-ichi; Takahashi, Fumihiko; Kobayashi, Motoi; Yamauchi, Atsushi; Sasaki, Yukie; Sakamoto, Naka; Ota, Hisanobu; Tanabe, Yasuko; Takeuchi, Toshiharu; Takenaka, Toshihiro; Kikuchi, Kenjiro; Hasebe, Naoyuki

    2011-01-01

    Fabry disease is an X-linked lysosomal storage disorder caused by mutations of the α-galactosidase A gene (GLA), and the disease is a relatively prevalent cause of left ventricular hypertrophy mimicking idiopathic hypertrophic cardiomyopathy. We assessed clinically 5 patients of a three-generation family and also searched for GLA mutations in 10 family members. The proband had left ventricular hypertrophy with localized thinning in the basal posterior wall and late gadolinium enhancement (LGE) in the near-circumferential wall in cardiovascular magnetic resonance images and her sister had vasospastic angina pectoris without organic stenosis of the coronary arteries. LGE notably appeared in parallel with decreased α-galactosidase A activity and increased NT-pro BNP in our patients. We detected a new GLA missense mutation (G195V) in exon 4, resulting in a glycine-to-valine substitution. Of the 10 family members, 5 family members each were positive and negative for this mutation. These new data extend our clinical and molecular knowledge of GLA gene mutations and confirm that a novel missense mutation in the GLA gene is important not only for a precise diagnosis of heterozygous status, but also for confirming relatives who are negative for this mutation.

  20. Jamaican family structure: the paradox of normalcy.

    Science.gov (United States)

    Dechesnay, M

    1986-06-01

    The relationship between basic research, theory, and clinical work with families is conceptualized during a discussion of Jamaican family structure and the application of change theory to a clinical case of depression in a Jamaican woman. It was found that three types of family structure are prevalent in Jamaica. The European ideal of a patriarchal-patrifocal structure creates problems for working-class Jamaicans. General system theory provides support for a different model. Change theory is applied to resolve the paradox created by the European model.

  1. [Appearance of hepatitis B in a family environment].

    Science.gov (United States)

    Marinković, V; Letica, Z; Zivanović-Marinković, V; Mijusković, P; Kapulica, I; Dokić, M

    1981-01-01

    The study comprised 20 families with total of 83 members of whom 45 with hepatitis B. The selection was made of families with at least two members diseased which was the most common case, the marital couples being in question. Of other families, three families had three members and one family four members with hepatitis B virus infection. The largest number had severe clinical picture (44%) and 13 (28%) chronic active hepatitis. Four patients with the most severe clinical picture of chronic active hepatitis, together with HBeantigens, had positive HBeantigen for more than two years since the onset of the disease. Importance of damaged skin and mucosa in spreading of hepatitis B infection in family environment has been pointed out.

  2. CLINICAL AND FAMILY PROFILE OF PATIENTS DIAGNOSED WITH KERATOCONUS

    Directory of Open Access Journals (Sweden)

    Kalpana

    2015-03-01

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

  3. Computer Simulation: A Methodology to Improve the Efficiency in the Brooke Army Medical Center Family Care Clinic (A Patient Wait Case Study)

    National Research Council Canada - National Science Library

    Merkie, John

    2000-01-01

    .... The purpose of this study was to describe the current system and to evaluate the potential impact of process/resource changes in patient wait times, access and resource utilization at the BAMC Family Care Clinic (FCC...

  4. A Peruvian family with a novel PARK2 mutation: Clinical and Pathological Characteristics

    Science.gov (United States)

    Cornejo-Olivas, Mario; Torres, Luis; Mata, Ignacio F; Mazzetti, Pilar; Rivas, Diana; Cosentino, Carlos; Inca-Martinez, Miguel; Cuba, Juan M; Zabetian, Cyrus P.; Leverenz, James B.

    2015-01-01

    Background Mutations in PARK2 result in autosomal recessive young onset Parkinson’s disease (YOPD). Although there have been a number of reports on the clinical characteristics of PARK2-related PD, there is limited information available on the associated neuropathologic changes. Design We describe the clinical and pathological characteristics of a Peruvian family with YOPD. The proband and one unaffected sibling were screened for PARK2 dosage and point mutations. One affected sibling had detailed neuropathologic examination. Setting Instituto Nacional de Ciencias Neurologicas (INCN) in Lima, Peru Results The proband and two of her four siblings developed YOPD and both parents were unaffected. The clinical course has been characterized by akinetic-rigid parkinsonism predominantly affecting the lower limbs and dyskinesias. Analysis of PARK2 showed that the proband is compound heterozygous for a novel acceptor splice site mutation in intron 5 (IVS5-1G>A) and an exon 7 deletion. Neuropathologic assessment of an affected sibling revealed severe neuronal loss in the substantia nigra (SN) and loss of tyrosine hydroxylase immunopositive fibers in the striatum. No Lewy body pathology was observed using standard histology or immunohistochemistry for α-synuclein. Conclusions Consistent with most neuropathologic reports of patients with PARK2 mutations, we did not observe Lewy body inclusions, despite marked SN degeneration and severe dopaminergic denervation of the striatum. These data describe a novel splice site mutation and further extend the clinicopathological characterization of PARK2-associated PD. PMID:25817512

  5. Family boundary characteristics, work-family conflict and life satisfaction: A moderated mediation model.

    Science.gov (United States)

    Qiu, Lin; Fan, Jinyan

    2015-10-01

    Although work-family border and boundary theory suggest individuals' boundary characteristics influence their work-family relationship, it is largely unknown how boundary flexibility and permeability mutually influence work-family conflict and subsequent employee outcomes. Moreover, the existing work-family conflict research has been mainly conducted in the United States and other Western countries. To address these gaps in the work-family literature, the present study examines a moderated mediation model regarding how family boundary characteristics may influence individuals' work-family conflict and life satisfaction with a sample of 278 Chinese full-time employees. Results showed that employees' family flexibility negatively related to their perceived work interference with family (WIF) and family interference with work (FIW), and both these two relationships were augmented by individuals' family permeability. In addition, WIF mediated the relationship between family flexibility and life satisfaction; the indirect effect of family flexibility on life satisfaction via WIF was stronger for individuals with higher family permeability. The theoretical and managerial implications of these findings are discussed. © 2014 International Union of Psychological Science.

  6. Molecular analysis of recombination in a family with Duchenne muscular dystrophy and a large pericentric X chromosome inversion

    Energy Technology Data Exchange (ETDEWEB)

    Shashi, V.; Golden, W.L.; Allinson, P.S. [Univ. of Virginia Health Sciences Center, Charlottesville, VA (United States)] [and others

    1996-06-01

    It has been demonstrated in animal studies that, in animals heterozygous for pericentric chromosomal inversions, loop formation is greatly reduced during meiosis. This results in absence of recombination within the inverted segment, with recombination seen only outside the inversion. A recent study in yeast has shown that telomeres, rather than centromeres, lead in chromosome movement just prior to meiosis and may be involved in promoting recombination. We studied by cytogenetic analysis and DNA polymorphisms the nature of meiotic recombination in a three-generation family with a large pericentric X chromosome inversion, inv(X)(p21.1q26), in which Duchenne muscular dystrophy (DMD) was cosegregating with the inversion. On DNA analysis there was no evidence of meiotic recombination between the inverted and normal X chromosomes in the inverted segment. Recombination was seen at the telomeric regions, Xp22 and Xq27-28. No deletion or point mutation was found on analysis of the DMD gene. On the basis of the FISH results, we believe that the X inversion is the mutation responsible for DMD in this family. Our results indicate that (1) pericentric X chromosome inversions result in reduction of recombination between the normal and inverted X chromosomes; (2) meiotic X chromosome pairing in these individuals is likely initiated at the telomeres; and (3) in this family DMD is caused by the pericentric inversion. 50 refs., 7 figs., 1 tab.

  7. Social Problems of Families Caring for a Frail Elderly Referrals to Public Hospitals Clinics in Karaj City

    Directory of Open Access Journals (Sweden)

    Mehrzad Babaei

    2007-04-01

    Full Text Available Objectives: One of the most important challenges for modem societies is the increasing of elder population. Caring these people is also another important matter for health systems. Families do most of caring responsibilities of the elders who face with many problems for meeting the elders' needs. The aim of this study was to determine the problems of families caring a frail elder who came to the clinics of public hospitals in karaj city in 2002. Methods & Materials: this study was a correlational descriptive research that 90 families were selected through purposive sampling. Data collection tool was a questionnaire. The method of data collection was interview and then filling the questionnaires by the researcher. Results: findings of the study showed that the age range of elders was 77±9, most of them came to the hospitals for heart diseases. The activity of daily living independency score was 46±5.7. The majority of help and support of elders was done by women. Most of families expressed the social family relationship problems from high to medium level, the leisure activity problems from medium to high level and the economical problems from medium to high level. All of woman expressed doing job problems from high to medium level and most of men expressed these problems from medium to low level. As a whole, women caregivers' problems were more than men caregivers' problems. Also the results showed that, an increase in the elder age, dependency in activity of daily living, mental and cognitive disorders of the elder and the time of physical support of the elder by other members would increase. Conclusion: this study show, in regards to increasing the elder population in our country special planning must be designed and done as programs for elders and their families. In case of continuity of caring the elders and not supporting these families by health systems, possibility of existing burnout and burden in them will as such so that elder abuse

  8. Familial adenomatous polyposis

    Directory of Open Access Journals (Sweden)

    Rozen Paul

    2009-10-01

    suggestive family history, clinical findings, and large bowel endoscopy or full colonoscopy. Whenever possible, the clinical diagnosis should be confirmed by genetic testing. When the APC mutation in the family has been identified, genetic testing of all first-degree relatives should be performed. Presymptomatic and prenatal (amniocentesis and chorionic villous sampling, and even preimplantation genetic testing is possible. Referral to a geneticist or genetic counselor is mandatory. Differential diagnoses include other disorders causing multiple polyps (such as Peutz-Jeghers syndrome, familial juvenile polyps or hyperplastic polyposis, hereditary mixed polyposis syndromes, and Lynch syndrome. Cancer prevention and maintaining a good quality of life are the main goals of management and regular and systematic follow-up and supportive care should be offered to all patients. By the late teens or early twenties, colorectal cancer prophylactic surgery is advocated. The recommended alternatives are total proctocolectomy and ileoanal pouch or ileorectal anastomosis for AFAP. Duodenal cancer and desmoids are the two main causes of mortality after total colectomy, they need to be identified early and treated. Upper endoscopy is necessary for surveillance to reduce the risk of ampullary and duodenal cancer. Patients with progressive tumors and unresectable disease may respond or stabilize with a combination of cytotoxic chemotherapy and surgery (when possible to perform. Adjunctive therapy with celecoxib has been approved by the US Food and Drug Administration and the European Medicines Agency in patients with FAP. Individuals with FAP carry a 100% risk of CRC; however, this risk is reduced significantly when patients enter a screening-treatment program.

  9. Administrative and clinical denials by a large dental insurance provider

    Directory of Open Access Journals (Sweden)

    Geraldo Elias MIRANDA

    2015-01-01

    Full Text Available The objective of this study was to assess the prevalence and the type of claim denials (administrative, clinical or both made by a large dental insurance plan. This was a cross-sectional, observational study, which retrospectively collected data from the claims and denial reports of a dental insurance company. The sample consisted of the payment claims submitted by network dentists, based on their procedure reports, reviewed in the third trimester of 2012. The denials were classified and grouped into ‘administrative’, ‘clinical’ or ‘both’. The data were tabulated and submitted to uni- and bivariate analyses. The confidence intervals were 95% and the level of significance was set at 5%. The overall frequency of denials was 8.2% of the total number of procedures performed. The frequency of administrative denials was 72.88%, whereas that of technical denials was 25.95% and that of both, 1.17% (p < 0.05. It was concluded that the overall prevalence of denials in the studied sample was low. Administrative denials were the most prevalent. This type of denial could be reduced if all dental insurance providers had unified clinical and administrative protocols, and if dentists submitted all of the required documentation in accordance with these protocols.

  10. Digital Clinical Communication for Families and Caregivers of Children or Young People With Short- or Long-Term Conditions: Rapid Review.

    Science.gov (United States)

    Armoiry, Xavier; Sturt, Jackie; Phelps, Emma Elizabeth; Walker, Clare-Louise; Court, Rachel; Taggart, Frances; Sutcliffe, Paul; Griffiths, Frances; Atherton, Helen

    2018-01-05

    The communication relationship between parents of children or young people with health conditions and health professionals is an important part of treatment, but it is unclear how far the use of digital clinical communication tools may affect this relationship. The objective of our study was to describe, assess the feasibility of, and explore the impact of digital clinical communication between families or caregivers and health professionals. We searched the literature using 5 electronic databases. We considered all types of study design published in the English language from January 2009 to August 2015. The population of interest included families and caregivers of children and young people aged less than 26 years with any type of health condition. The intervention was any technology permitting 2-way communication. We included 31 articles. The main designs were randomized controlled trials (RCTs; n=10), cross-sectional studies (n=9), pre- and postintervention uncontrolled (pre/post) studies (n=7), and qualitative interview studies (n=2); 6 had mixed-methods designs. In the majority of cases, we considered the quality rating to be fair. Many different types of health condition were represented. A breadth of digital communication tools were included: videoconferencing or videoconsultation (n=14), and Web messaging or emails (n=12). Health care professionals were mainly therapists or cognitive behavioral therapists (n=10), physicians (n=8), and nurses (n=6). Studies were very heterogeneous in terms of outcomes. Interventions were mainly evaluated using satisfaction or acceptance, or outcomes relating to feasibility. Clinical outcomes were rarely used. The RCTs showed that digital clinical communication had no impact in comparison with standard care. Uncontrolled pre/post studies showed good rates of satisfaction or acceptance. Some economic studies suggested that digital clinical communication may save costs. This rapid review showed an emerging body of literature on

  11. Introduction to special section of the Journal of Family Psychology, advances in mixed methods in family psychology: integrative and applied solutions for family science.

    Science.gov (United States)

    Weisner, Thomas S; Fiese, Barbara H

    2011-12-01

    Mixed methods in family psychology refer to the systematic integration of qualitative and quantitative techniques to represent family processes and settings. Over the past decade, significant advances have been made in study design, analytic strategies, and technological support (such as software) that allow for the integration of quantitative and qualitative methods and for making appropriate inferences from mixed methods. This special section of the Journal of Family Psychology illustrates how mixed methods may be used to advance knowledge in family science through identifying important cultural differences in family structure, beliefs, and practices, and revealing patterns of family relationships to generate new measurement paradigms and inform clinical practice. Guidance is offered to advance mixed methods research in family psychology through sound principles of peer review.

  12. A clinical and molecular study of a Bedouin family with dysmegakaryopoiesis, mild anemia, and neutropenia cured by bone marrow transplantation.

    Science.gov (United States)

    Tamary, H; Yaniv, I; Stein, J; Dgany, O; Shalev, Z; Shechter, T; Resnitzky, P; Shaft, D; Zoldan, M; Kornreich, L; Levy, R; Cohen, A; Moser, R A; Kapelushnik, J; Shalev, H

    2003-09-01

    Familial thrombocytopenia is a relatively rare and heterogeneous group of clinical and genetic syndromes of unknown etiology. Recently, mutations in a few hematopoietic transcription factors were implicated in dysmegakaryopoiesis with and without dyserythropoietic anemia. The aim of the present study was to describe the clinical and hematologic picture of members of a Bedouin family with severe congenital thrombocytopenia associated with neutropenia and anemia and to determine the possible involvement of hematopoietic transcription factor genes in their disease. Four members of a Bedouin family presented with severe bleeding tendency, including intracranial hemorrhage in three. Three of the four were successfully treated with allogenic human leukocyte antigen (HLA)-matched bone marrow transplants. Measurements of serum erythropoietin and thrombopoietin levels, bone marrow electron microscopy, and megakaryocytic colony were grown for each patient in addition to DNA amplification and single-strand conformation polymorphism of each exon of the NF-E2, Fli-1, FOG-1, and Gfi-1b in genes. Bone marrow studies revealed dysmegakaryopoiesis and mild dyserythropoiesis. A low number of bone marrow megakaryocyte colony-forming units was found, as well as a slightly elevated serum thrombopoietin level. No mutation was identified in any of the transcription factor genes examined. A unique autosomal recessive bone marrow disorder with prominent involvement of megakaryocytes is described. Defects were not identified in transcription factors affecting the common myeloid progenitor.

  13. Comparative Genomics of Chrysochromulina Ericina Virus and Other Microalga-Infecting Large DNA Viruses Highlights Their Intricate Evolutionary Relationship with the Established Mimiviridae Family.

    Science.gov (United States)

    Gallot-Lavallée, Lucie; Blanc, Guillaume; Claverie, Jean-Michel

    2017-07-15

    Chrysochromulina ericina virus CeV-01B (CeV) was isolated from Norwegian coastal waters in 1998. Its icosahedral particle is 160 nm in diameter and encloses a 474-kb double-stranded DNA (dsDNA) genome. This virus, although infecting a microalga (the haptophyceae Haptolina ericina , formerly Chrysochromulina ericina ), is phylogenetically related to members of the Mimiviridae family, initially established with the acanthamoeba-infecting mimivirus and megavirus as prototypes. This family was later split into two genera ( Mimivirus and Cafeteriavirus ) following the characterization of a virus infecting the heterotrophic stramenopile Cafeteria roenbergensis (CroV). CeV, as well as two of its close relatives, which infect the unicellular photosynthetic eukaryotes Phaeocystis globosa (Phaeocystis globosa virus [PgV]) and Aureococcus anophagefferens (Aureococcus anophagefferens virus [AaV]), are currently unclassified by the International Committee on Viral Taxonomy (ICTV). The detailed comparative analysis of the CeV genome presented here confirms the phylogenetic affinity of this emerging group of microalga-infecting viruses with the Mimiviridae but argues in favor of their classification inside a distinct clade within the family. Although CeV, PgV, and AaV share more common features among them than with the larger Mimiviridae , they also exhibit a large complement of unique genes, attesting to their complex evolutionary history. We identified several gene fusion events and cases of convergent evolution involving independent lateral gene acquisitions. Finally, CeV possesses an unusual number of inteins, some of which are closely related despite being inserted in nonhomologous genes. This appears to contradict the paradigm of allele-specific inteins and suggests that the Mimiviridae are especially efficient in spreading inteins while enlarging their repertoire of homing genes. IMPORTANCE Although it infects the microalga Chrysochromulina ericina , CeV is more closely

  14. A recurrent G367R mutation in MYOC associated with juvenile open angle glaucoma in a large Chinese family

    Directory of Open Access Journals (Sweden)

    Yi-Hua Yao

    2018-03-01

    Full Text Available AIM: To identify the mutations of MYOC, OPTN, CYP1B1 and WDR36 in a large Chinese family affected by juvenile open angle glaucoma (JOAG. METHODS: Of 114 members of one family were recruited in this study. Blood samples from twelve members of this pedigree were collected for further research. As a control, 100 unrelated subjects were recruited from the same hospital. The exon and flanking intron sequences of candidate genes were amplified using the polymerase chain reaction and direct DNA sequencing. RESULTS: The proband (III:10 was a seventy-three years old woman with binocular JOAG at the age of 31. A recurrent heterozygous mutation (c.1099G>A of MYOC was identified in the three JOAG patients and another suspect. This transition was located in the first base pair of codon 367 (GGA>AGA in exon 3 of MYOC and was predicted to be a missense substitution of glycine to arginine (p.G367R in myocilin. Mutations in OPTN, CYP1B1 or WDR36 were not detected in this study. The G367R mutation was not present in unaffected family members or in 100 ethnically matched controls. Other variants of the coding regions of candidate genes were not detected in all participants. To date, this family was the largest to have been identified as carrying a certain MYOC mutation in China, further evidence of a founder effect for the G367R MYOC mutant was provided by our data. CONCLUSION: A MYOC c.1099G>A mutation in an autosomal dominant JOAG family is identified and the characteristic phenotypes among the patients are summarized. Genetic testing could be utilized in high-risk populations and be helpful not only for genetic counseling, but also for early diagnosis and treatment of affected patients or carriers of inherited JOAG.

  15. Dental Fear and Avoidance in Treatment Seekers at a Large, Urban Dental Clinic.

    Science.gov (United States)

    Heyman, Richard E; Slep, Amy M Smith; White-Ajmani, Mandi; Bulling, Lisanne; Zickgraf, Hana F; Franklin, Martin E; Wolff, Mark S

    2016-01-01

    The prevalence and correlates of dental fear have been studied in representative population studies, but not in patients presenting for dental treatment. We hypothesized that dental fear among patients presenting at a large, urban college of dentistry would be similar to that of the population (e.g. 11% high dental fear, 17% to 35% moderate or higher fear) and that fear would be associated with avoidance of routine dental care, increased use of urgent dental care and poor oral health. Participants were 1070 consecutive patients at a large, urban dental care center. All patients completed a clinical interview, including demographics, medical history, dental history and presenting concerns, and behavioral health history. Patients were also asked to rate their dental anxiety/fear on a 1 (none) to 10 (high) scale. Over 20% of patients reported elevated anxiety/fear, of which 12.30% reported moderate and 8.75% high fear. Severity of dental anxiety/fear was strongly related to the likelihood of avoiding dental services in the past and related to myriad presenting problems. As hypothesized, the prevalence of moderate or higher fear in dental patients was considerable and closely matched that found in general population surveys. Thus, the 'dental home' is an ideal location to treat clinically significant dental anxiety/fear.

  16. [Vaginal infections in a Family Health Clinic in the Metropolitan Region, Chile].

    Science.gov (United States)

    Villaseca, Rodrigo; Ovalle, Alfredo; Amaya, Fernando; Labra, Bayron; Escalona, Natalia; Lizana, Paola; Montoya, M José; Lillo, Eduardo; Martínez, M Angélica

    2015-02-01

    Vaginal infections are a frequent cause for consultation, but their prevalence and etiology vary in different populations. To determine the prevalence and etiologies of vaginal infection in women attending a family health center in the Metropolitan Region of Chile. The microbiological diagnosis was made by wet mount and Gram stain. Diagnosis of trichomoniasis was performed by wet mount, culture and polymerase chain reaction. 101 women aged 15-54, not selected by signs or symptoms of vaginal infection, 46 of them pregnant were included. In 47 women (46.5%), vaginal infections were diagnosed. An association was observed between age and frequency of vaginal infection. The proportion of infections among pregnant and non-pregnant women was similar. The most frequent infections were bacterial vaginosis (16.8%), vulvovaginal candidiasis (11.9%) and co-infections (6.9%). We found 5.9% of intermediate microbiota cases, 3% of trichomoniasis and 2% of aerobic vaginitis. Symptoms of vaginal infection had poor agreement with microbiological findings. Otherwise physical signs had good agreement with the presence of infection, but low to moderate concordance with a specific etiology. We found a high prevalence of vaginal infections in the study population. It is necessary to improve the definitions and criteria of microbiological diagnosis of co-infections and intermediate microbiota, for them to be diagnosed in the clinical practice. More descriptive questionnaires are recommended to enhance the usefulness of clinical examination.

  17. Family profiles in eating disorders: family functioning and psychopathology

    Directory of Open Access Journals (Sweden)

    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

  18. 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.

  19. Clinical features and growth hormone receptor gene mutations of patients with Laron syndrome from a Chinese family.

    Science.gov (United States)

    Ying, Yan-Qin; Wei, Hong; Cao, Li-Zhi; Lu, Juan-Juan; Luo, Xiao-Ping

    2007-08-01

    Laron syndrome is an autosomal recessive disorder caused by defects of growth hormone receptor (GHR) gene. It is characterized by severe postnatal growth retardation and characteristic facial features as well as high circulating levels of growth hormone (GH) and low levels of insulin-like growth factor I (IGF-I) and insulin-like growth factor binding protein-3 (IGFBP-3). This report described the clinical features and GHR gene mutations in 2 siblings with Laron syndrome in a Chinese family. Their heights and weights were in the normal range at birth, but the growth was retarded after birth. When they presented to the clinic, the heights of the boy (8 years old) and his sister (11 years old) were 80.0 cm (-8.2 SDS) and 96.6 cm (-6.8 SDS) respectively. They had typical appearance features of Laron syndrome such as short stature and obesity, with protruding forehead, saddle nose, large eyes, sparse and thin silky hair and high-pitched voice. They had higher basal serum GH levels and lower serum levels of IGF-I, IGFBP-3 and growth hormone binding protein (GHBP) than normal controls. The peak serum GH level after colonidine and insulin stimulations in the boy was over 350 ng/mL. After one-year rhGH treatment, the boy's height increased from 80.0 cm to 83.3 cm. The gene mutation analysis revealed that two patients had same homozygous mutation of S65H (TCA -->CCA) in exon 4, which is a novel gene mutation. It was concluded that a definite diagnosis of Laron syndrome can be made based on characteristic appearance features and serum levels of GH, IGF-I, IGFBP-3 and GHBP. The S65H mutation might be the cause of Laron syndrome in the two patients.

  20. Contribution of APC and MUTYH mutations to familial adenomatous polyposis susceptibility in Hungary.

    Science.gov (United States)

    Papp, Janos; Kovacs, Marietta Eva; Matrai, Zoltan; Orosz, Enikő; Kásler, Miklós; Børresen-Dale, Anne-Lise; Olah, Edith

    2016-01-01

    Familial adenomatous polyposis (FAP) is a colorectal cancer predisposition syndrome with considerable genetic and phenotypic heterogeneity, defined by the development of multiple adenomas throughout the colorectum. FAP is caused either by monoallelic mutations in the adenomatous polyposis coli gene APC, or by biallelic germline mutations of MUTYH, this latter usually presenting with milder phenotype. The aim of the present study was to characterize the genotype and phenotype of Hungarian FAP patients. Mutation screening of 87 unrelated probands from FAP families (21 of them presented as the attenuated variant of the disease, showing APC were identified in 65 patients (75 %), including nine cases (37.5 %) with large genomic alterations. Twelve of the point mutations were novel. In addition, APC-negative samples were also tested for MUTYH mutations and we were able to identify biallelic pathogenic mutations in 23 % of these cases (5/22). Correlations between the localization of APC mutations and the clinical manifestations of the disease were observed, cases with a mutation in the codon 1200-1400 region showing earlier age of disease onset (p APC- and MUTYH-associated FAP in our cohort: the age at onset of polyposis was significantly delayed for biallelic MUTYH mutation carriers as compared to patients with an APC mutation. Our data represent the first comprehensive study delineating the mutation spectra of both APC and MUTYH in Hungarian FAP families, and underscore the overlap between the clinical characteristics of APC- and MUTYH-associated phenotypes, necessitating a more appropriate clinical characterization of FAP families.

  1. Sifting through genomes with iterative-sequence clustering produces a large, phylogenetically diverse protein-family resource.

    Science.gov (United States)

    Sharpton, Thomas J; Jospin, Guillaume; Wu, Dongying; Langille, Morgan G I; Pollard, Katherine S; Eisen, Jonathan A

    2012-10-13

    New computational resources are needed to manage the increasing volume of biological data from genome sequencing projects. One fundamental challenge is the ability to maintain a complete and current catalog of protein diversity. We developed a new approach for the identification of protein families that focuses on the rapid discovery of homologous protein sequences. We implemented fully automated and high-throughput procedures to de novo cluster proteins into families based upon global alignment similarity. Our approach employs an iterative clustering strategy in which homologs of known families are sifted out of the search for new families. The resulting reduction in computational complexity enables us to rapidly identify novel protein families found in new genomes and to perform efficient, automated updates that keep pace with genome sequencing. We refer to protein families identified through this approach as "Sifting Families," or SFams. Our analysis of ~10.5 million protein sequences from 2,928 genomes identified 436,360 SFams, many of which are not represented in other protein family databases. We validated the quality of SFam clustering through statistical as well as network topology-based analyses. We describe the rapid identification of SFams and demonstrate how they can be used to annotate genomes and metagenomes. The SFam database catalogs protein-family quality metrics, multiple sequence alignments, hidden Markov models, and phylogenetic trees. Our source code and database are publicly available and will be subject to frequent updates (http://edhar.genomecenter.ucdavis.edu/sifting_families/).

  2. Family Hypnotherapy.

    Science.gov (United States)

    Araoz, Daniel L.; Negley-Parker, Esther

    1985-01-01

    A therapeutic model to help families activate experiential and right hemispheric functioning through hypnosis is presented in detail, together with a clinical illustration. Different situations in which this model is effective are mentioned and one such set of circumstances is described. (Author)

  3. Protocol for implementation of family health history collection and decision support into primary care using a computerized family health history system

    Directory of Open Access Journals (Sweden)

    Agbaje Astrid B

    2011-10-01

    Full Text Available Abstract Background The CDC's Family History Public Health Initiative encourages adoption and increase awareness of family health history. To meet these goals and develop a personalized medicine implementation science research agenda, the Genomedical Connection is using an implementation research (T3 research framework to develop and integrate a self-administered computerized family history system with built-in decision support into 2 primary care clinics in North Carolina. Methods/Design The family health history system collects a three generation family history on 48 conditions and provides decision support (pedigree and tabular family history, provider recommendation report and patient summary report for 4 pilot conditions: breast cancer, ovarian cancer, colon cancer, and thrombosis. All adult English-speaking, non-adopted, patients scheduled for well-visits are invited to complete the family health system prior to their appointment. Decision support documents are entered into the medical record and available to provider's prior to the appointment. In order to optimize integration, components were piloted by stakeholders prior to and during implementation. Primary outcomes are change in appropriate testing for hereditary thrombophilia and screening for breast cancer, colon cancer, and ovarian cancer one year after study enrollment. Secondary outcomes include implementation measures related to the benefits and burdens of the family health system and its impact on clinic workflow, patients' risk perception, and intention to change health related behaviors. Outcomes are assessed through chart review, patient surveys at baseline and follow-up, and provider surveys. Clinical validity of the decision support is calculated by comparing its recommendations to those made by a genetic counselor reviewing the same pedigree; and clinical utility is demonstrated through reclassification rates and changes in appropriate screening (the primary outcome

  4. The unexpected co-occurrence of GRN and MAPT p.A152T in Basque families: Clinical and pathological characteristics.

    Directory of Open Access Journals (Sweden)

    Fermin Moreno

    Full Text Available The co-occurrence of the c.709-1G>A GRN mutation and the p.A152T MAPT variant has been identified in 18 Basque families affected by frontotemporal dementia (FTD. We aimed to investigate the influence of the p.A152T MAPT variant on the clinical and neuropathological features of these Basque GRN families.We compared clinical characteristics of 14 patients who carried the c.709-1G>A GRN mutation (GRN+/A152T- with 21 patients who carried both the c.709-1G>A GRN mutation and the p.A152T MAPT variant (GRN+/A152T+. Neuropsychological data (n = 17 and plasma progranulin levels (n = 23 were compared between groups, and 7 subjects underwent neuropathological studies. We genotyped six short tandem repeat markers in the two largest families. By the analysis of linkage disequilibrium decay in the haplotype block we estimated the time when the first ancestor to carry both genetic variants emerged. GRN+/A152T+ and GRN+/A152T- patients shared similar clinical and neuropsychological features and plasma progranulin levels. All were diagnosed with an FTD disorder, including behavioral variant FTD or non fluent / agrammatic variant primary progressive aphasia, and shared a similar pattern of neuropsychological deficits, predominantly in executive function, memory, and language. All seven participants with available brain autopsies (6 GRN+/A152T+, 1 GRN+/A152T- showed frontotemporal lobar degeneration with TDP-43 inclusions (type A classification, which is characteristic of GRN carriers. Additionally, all seven showed mild to moderate tau inclusion burden: five cases lacked β-amyloid pathology and two cases had Alzheimer's pathology. The co-occurrence of both genes within one individual is recent, with the birth of the first GRN+/A152T+ individual estimated to be within the last 50 generations (95% probability.In our sample, the p.A152T MAPT variant does not appear to show a discernible influence on the clinical phenotype of GRN carriers. Whether p.A152T confers a

  5. Data Linkage from Clinical to Study Databases via an R Data Warehouse User Interface. Experiences from a Large Clinical Follow-up Study.

    Science.gov (United States)

    Kaspar, Mathias; Ertl, Maximilian; Fette, Georg; Dietrich, Georg; Toepfer, Martin; Angermann, Christiane; Störk, Stefan; Puppe, Frank

    2016-08-05

    Data that needs to be documented for clinical studies has often been acquired and documented in clinical routine. Usually this data is manually transferred to Case Report Forms (CRF) and/or directly into an electronic data capture (EDC) system. To enhance the documentation process of a large clinical follow-up study targeting patients admitted for acutely decompensated heart failure by accessing the data created during routine and study visits from a hospital information system (HIS) and by transferring it via a data warehouse (DWH) into the study's EDC system. This project is based on the clinical DWH developed at the University of Würzburg. The DWH was extended by several new data domains including data created by the study team itself. An R user interface was developed for the DWH that allows to access its source data in all its detail, to transform data as comprehensively as possible by R into study-specific variables and to support the creation of data and catalog tables. A data flow was established that starts with labeling patients as study patients within the HIS and proceeds with updating the DWH with this label and further data domains at a daily rate. Several study-specific variables were defined using the implemented R user interface of the DWH. This system was then used to export these variables as data tables ready for import into our EDC system. The data tables were then used to initialize the first 296 patients within the EDC system by pseudonym, visit and data values. Afterwards, these records were filled with clinical data on heart failure, vital parameters and time spent on selected wards. This solution focuses on the comprehensive access and transformation of data for a DWH-EDC system linkage. Using this system in a large clinical study has demonstrated the feasibility of this approach for a study with a complex visit schedule.

  6. Collaborative research between academia and industry using a large clinical trial database: a case study in Alzheimer's disease

    Directory of Open Access Journals (Sweden)

    Jones Roy

    2011-10-01

    Full Text Available Abstract Background Large clinical trials databases, developed over the course of a comprehensive clinical trial programme, represent an invaluable resource for clinical researchers. Data mining projects sponsored by industry that use these databases, however, are often not viewed favourably in the academic medical community because of concerns that commercial, rather than scientific, goals are the primary purpose of such endeavours. Thus, there are few examples of sustained collaboration between leading academic clinical researchers and industry professionals in a large-scale data mining project. We present here a successful example of this type of collaboration in the field of dementia. Methods The Donepezil Data Repository comprised 18 randomised, controlled trials conducted between 1991 and 2005. The project team at Pfizer determined that the data mining process should be guided by a diverse group of leading Alzheimer's disease clinical researchers called the "Expert Working Group." After development of a list of potential faculty members, invitations were extended and a group of seven members was assembled. The Working Group met regularly with Eisai/Pfizer clinicians and statisticians to discuss the data, identify issues that were currently of interest in the academic and clinical communities that might lend themselves to investigation using these data, and note gaps in understanding or knowledge of Alzheimer's disease that these data could address. Leadership was provided by the Pfizer Clinical Development team leader; Working Group members rotated responsibility for being lead and co-lead for each investigation and resultant publication. Results Six manuscripts, each published in a leading subspecialty journal, resulted from the group's work. Another project resulted in poster presentations at international congresses and two were cancelled due to resource constraints. Conclusions The experience represents a particular approach to

  7. 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

  8. CNGA3 mutations in two United Arab Emirates families with achromatopsia.

    Science.gov (United States)

    Ahuja, Yachna; Kohl, Susanne; Traboulsi, Elias I

    2008-07-10

    ACHROMATOPSIA RESULTS FROM MUTATIONS IN ONE OF THREE GENES: cyclic nucleotide-gated channel, alpha-3 (CNGA3); cyclic nucleotide-gated channel, beta-3 (CNGB3); and guanine nucleotide-binding protein, alpha-transducing activity polypeptide 2 (GNAT2). We report the responsible mutations in two United Arab Emirates families who have this autosomal recessive disease. Clinical examinations were performed in seven patients from three nuclear families. Molecular genetic testing for common CNGA3 and CNGB3 mutations was undertaken using standard protocols. All patients were extremely light sensitive and had reduced visual acuity and no color perception. Fundus examinations did not show any visible abnormalities. After further pedigree analysis, two of the families were found to be linked through the paternal line. Two mutations in CNGA3 were identified: Arg283Trp and Gly397Val. Family A, the larger pedigree, had one branch in which two sisters and one brother were homozygous for the Gly397Val mutation and another branch in which a brother and sister were compound heterozygous for both aforenamed mutations. Family B, however, only had two brothers who were homozygous for the Arg283Trp mutation. Achromatopsia in these two United Arab Emirates families results from two different mutations in CNGA3. Two branches of the same pedigree had individuals with both homozygous and compound heterozygous disease, demonstrating a complex molecular pathology in this large family.

  9. Sifting through genomes with iterative-sequence clustering produces a large, phylogenetically diverse protein-family resource

    Directory of Open Access Journals (Sweden)

    Sharpton Thomas J

    2012-10-01

    Full Text Available Abstract Background New computational resources are needed to manage the increasing volume of biological data from genome sequencing projects. One fundamental challenge is the ability to maintain a complete and current catalog of protein diversity. We developed a new approach for the identification of protein families that focuses on the rapid discovery of homologous protein sequences. Results We implemented fully automated and high-throughput procedures to de novo cluster proteins into families based upon global alignment similarity. Our approach employs an iterative clustering strategy in which homologs of known families are sifted out of the search for new families. The resulting reduction in computational complexity enables us to rapidly identify novel protein families found in new genomes and to perform efficient, automated updates that keep pace with genome sequencing. We refer to protein families identified through this approach as “Sifting Families,” or SFams. Our analysis of ~10.5 million protein sequences from 2,928 genomes identified 436,360 SFams, many of which are not represented in other protein family databases. We validated the quality of SFam clustering through statistical as well as network topology–based analyses. Conclusions We describe the rapid identification of SFams and demonstrate how they can be used to annotate genomes and metagenomes. The SFam database catalogs protein-family quality metrics, multiple sequence alignments, hidden Markov models, and phylogenetic trees. Our source code and database are publicly available and will be subject to frequent updates (http://edhar.genomecenter.ucdavis.edu/sifting_families/.

  10. Familial LCAT deficiency. Report of two patients from a Canadian family of Italian and Swedish descent.

    Science.gov (United States)

    Frohlich, J; Godolphin, W J; Reeve, C E; Evelyn, K A

    1978-01-01

    A 16-year-old male (S.F.) and his 21-year-old sister (D.H.) from a large family of Italian and Swedish descent had virtually identical lipoprotein pattern and complete absence of LCAT activity. Both had typical corneal opacities and mild anemia with target cells. S.F., but not D.H., presented with proteinuria, which has increased over three years of follow-up. His kidney biopsy revealed lipid deposits in the glomerular basement membrane. Ten relatives in 4 generations had normal LCAT activity and/or lipoprotein pattern. The patients and their relatives had haptoglobin type 2. Factors that might influence the different clinical presentation in our patients (previous renal disease, diet, abnormal lipoproteins), prognosis, and treatment (diet, enzyme replacement, cholestyramine) are discussed.

  11. Celiac Family Health Education Video Series

    Medline Plus

    Full Text Available ... Questions Family Resources Hale Center for Families Interpreter Services Pawprints Connect With Us Facebook Twitter Youtube For Health Care Professionals Notes Blog Read clinical updates and the latest insights from Boston Children's specialists. Make A ...

  12. No clinical difference between large metal-on-metal total hip arthroplasty and 28-mm-head total hip arthroplasty?

    NARCIS (Netherlands)

    Zijlstra, Wierd P; van den Akker-Scheek, Inge; Zee, Mark J M; van Raay, Jos J A M

    2011-01-01

    PURPOSE: We aimed to test the claim of greater range of motion (ROM) with large femoral head metal-on-metal total hip arthroplasty. METHODS: We compared 28-mm metal-on-polyethylene (MP) total hip arthroplasty with large femoral head metal-on-metal (MM) total hip arthroplasty in a randomised clinical

  13. The clinical significance and synchronous polyp burden of large (≥ 20 mm) sessile serrated polyps in patients without serrated polyposis syndrome.

    Science.gov (United States)

    Desomer, Lobke; Tate, David J; Jayanna, Mahesh; Pellise, Maria; Awadie, Halim; Burgess, Nicholas G; McLeod, Duncan; Mahajan, Hema; Lee, Eric Y T; Williams, Stephen J; Bourke, Michael J

    2018-05-08

     Sessile serrated polyps (SSPs) are important precursors of colorectal carcinoma and interval cancer. Large SSPs (≥ 20 mm) outside the definition of serrated polyposis syndrome (SPS) have not been studied in comparison with SPS. We aimed to describe the characteristics of patients with large SSPs in this context.  Patients with at least one SSP (≥ 20 mm) were eligible. Data from three consecutive colonoscopies were used to compare clinical and endoscopic characteristics in three patient groups: SPS, a solitary large SSP, and patients with at least two SSPs without fulfilling the criteria for SPS (oligo-SSP). Data on the diagnostic colonoscopy were collected retrospectively, whereas the remaining data was collected prospectively.  67/146 patients (45.9 %) had SPS, 53/146 (36.3 %) had a solitary SSP, and 26/146 (17.8 %) were categorized as oligo-SSP. Personal (16.4 %, 9.4 %, and 11.5 %, respectively) and family (17.9 %, 17.0 %, and 23.1 %, respectively) history of colorectal carcinoma did not differ significantly between groups. Polyp burden was greater in SPS compared with solitary SSP but was not different from oligo-SSP (advanced adenomas: SPS 32.8 % vs. solitary SSP 9.4 % [ P  = 0.002] vs. oligo-SSP 34.6 % [ P  = 0.87]; ≥ 10 conventional adenomas: 11.9 % vs. 0 % [ P  = 0.01] vs. 3.8 % [ P  = 0.44], respectively). Dysplasia in large SSPs was frequent in all groups (41.1 % overall). SPS was recognized by referring endoscopists in only 9.0 % of cases.  Patients with oligo-SSPs have similar synchronous polyp burden and clinical characteristics as patients with SPS and may require similar surveillance. Modification of the criteria for the diagnosis of SPS to include this group seems warranted. Patients with a solitary SSP have a lower risk of synchronous polyps, including advanced adenomas. Larger studies are warranted to determine whether these patients may return to standard surveillance

  14. Clinical phenotype analysis of paroxysmal kinesigenic dyskinesia

    Directory of Open Access Journals (Sweden)

    Wo-tu TIAN

    2017-07-01

    Full Text Available Background Paroxysmal kinesigenic dyskinesia (PKD is a disorder characterized by recurrent and brief dystonic or choreoathetoid attacks that are induced by sudden voluntary movement with highly clinical and genetic heterogeneity. We aimed to investigate the clinical features of PKD in a large Chinese population. Methods One hundred and ninety five patients diagnosed as primary PKD were recruited. For all of the participants, neurological examinations were conducted and clinical manifestations were recorded and summarized in self - made uniform registration form for PKD patients. Clinical characteristics were statistically analyzed and compared between familial and sporadic PKD patients.  Results Among all of the 195 PKD patients in the present study, the gender ratio was 4.42∶1 (male∶ female. The average age of onset was (12.32 ± 3.49 years. There were 162 patients (83.08% manifestated with pure form and 33 (16.92% with complicated form of PKD. Among them 16 patients (8.21% had essential tremor (ET, and 144 patients (73.85% had premonitory symptom. The percentage of patients manifested as dystonia, chorea and mixed form during episodic attacks were 68.72% (134/195, 4.10% (8/195 and 27.18% (53/195 repectively. There were 134 cases (68.72% had facial involvement. It was recorded that 115 (58.97%, 54 (27.69% and 26 (13.33% patients had frequency of attack < 10 times/d, 10-20 times/d and > 20-30 times/d respectively. The percentages of patients whose duration of attack <10 s, 10-30 s and > 30-60 s were 60% (117/195, 29.74% (58/195 and 10.26% (20/195 respectively. There were 64 patietns (32.82% with family history of PKD and 131 (67.18% were sporadic PKD patients. Up to 40% (78/195 of patients did not require/take medications, as they had minor clinical manifestations or concerns about the side effects of anticonvulsants. Among 117 patients (60% prescribed with anticonvulsants, 114 patients showed a good response, including complete control (N

  15. Evaluation of the clinical efficacy of fractional radiofrequency microneedle treatment in acne scars and large facial pores.

    Science.gov (United States)

    Cho, Soo Ick; Chung, Bo Young; Choi, Min Gyu; Baek, Ji Hwoon; Cho, Hee Jin; Park, Chun Wook; Lee, Cheol Heon; Kim, Hye One

    2012-07-01

    Fractional technology overcomes the problems of ablative lasers, such as inaccurate depth control and damage to the epidermis. Minimally invasive fractional radiofrequency microneedle devices allow for more-selective heating of the dermis. To evaluate the clinical efficacy of fractional radiofrequency microneedle (ERM) treatment in acne scars and large facial pores. Thirty patients with acne scars and large facial pores were enrolled. Bipolar radiofrequency energy was delivered to the skin through the electrodes of the FRM device. Skin lesions were evaluated according to grade of acne scars, Investigator Global Assessment of large pores, skin surface roughness, transepidermal water loss (TEWL), dermal density, microscopic and composite image, sebum measurement, and questionnaires regarding patient satisfaction. The grade of acne scars and Investigator Global Assessment of large pores improved in more than 70% of all patients. Skin surface roughness, dermal density, and microscopic and composite images also improved, whereas TEWL and sebum measurement did not change. Clinical improvement from FRM treatment appeared to be related to dermal matrix regeneration. FRM treatment may be effective in improving acne scars and facial pores. © 2012 by the American Society for Dermatologic Surgery, Inc. Published by Wiley Periodicals, Inc.

  16. Clinical manifestations of colorectal cancer patients from a large multicenter study in Colombia.

    Science.gov (United States)

    Bohorquez, Mabel; Sahasrabudhe, Ruta; Criollo, Angel; Sanabria-Salas, María Carolina; Vélez, Alejandro; Castro, Jorge Mario; Marquez, Juan Ricardo; Mateus, Gilbert; Bolaños, Fernando; Panqueva, Cesar; Restrepo, Jose Ignacio; Puerta, Juan Dario; Murillo, Raul; Bravo, María Mercedes; Hernández, Gustavo; Rios, Angela; Prieto, Rodrigo; Tomlinson, Ian; Echeverry, Magdalena; Carvajal-Carmona, Luis G

    2016-10-01

    Colorectal cancer (CRC) is a major public health problem, and its incidence is rising in developing countries. However, studies characterizing CRC clinicopathological features in cases from developing countries are still lacking. The goal of this study was to evaluate clinicopathological and demographic features in one of the largest CRC studies in Latin America.The study involved over 1525 CRC cases recruited in a multicenter study in Colombia between 2005 and 2014 as part of ongoing genetic and epidemiological studies. We gathered clinicopathological data such as age at diagnosis, sex, body mass index, tobacco and alcohol consumption, family history of cancer, and tumor features including location, histological type, and stage. Statistical analyses were performed to test the association between age of onset, sex, and clinical manifestations.The average age at CRC diagnosis was 57.4 years, with 26.5% of cases having early-onset CRC (diagnosed by age 50 years). Most cases were women (53.2%; P = 0.009), 49.2% were overweight or obese, 49.1% were regular alcohol drinkers, 52% were smokers/former smokers, and 12.2% reported relatives with cancer. Most tumors in the study were located in the rectum (42.7%), were adenocarcinomas (91.5%), and had advanced stage (T3-T4, 79.8%). Comparisons by sex found that male cases were more likely to be obese (36.5% vs 31.1%; P = 0.001), less likely to have a family history of cancer (9.7% vs 15.3%; P = 0.016), and more likely to have advanced-stage tumors (83.9% vs 76.1%; P = 0.036). Comparisons by age of onset found that early-onset cases were more likely to be women (59.3% vs 51.0%; P = 0.005) and report a family history of cancer (17.4% vs 10.2%; P = 0.001).To our knowledge, our study is the largest report of clinicopathological characterization of Hispanic CRC cases, and we suggest that further studies are needed to understand CRC etiology in diverse Hispanic populations.

  17. Autosomal dominant polycystic kidney disease in a family with mosaicism and hypomorphic allele.

    Science.gov (United States)

    Reiterová, Jana; Štekrová, Jitka; Merta, Miroslav; Kotlas, Jaroslav; Elišáková, Veronika; Lněnička, Petr; Korabečná, Marie; Kohoutová, Milada; Tesař, Vladimír

    2013-03-15

    Autosomal dominant polycystic kidney disease (ADPKD) is the most common form of inherited kidney disease that results in renal failure. ADPKD is a systemic disorder with cysts and connective tissue abnormalities involving many organs. ADPKD caused by mutations in PKD1 gene is significantly more severe than the cases caused by PKD2 gene mutations. The large intra-familial variability of ADPKD highlights a role for genetic background. Here we report a case of ADPKD family initially appearing unlinked to the PKD1 or PKD2 loci and the influence of mosaicism and hypomorphic allele on the variability of the clinical course of the disease. A grandmother with the PKD1 gene mutation in mosaicism (p.Val1105ArgfsX4) and with mild clinical course of ADPKD (end stage renal failure at the age of 77) seemed to have ADPKD because of PKD2 gene mutation. On the other hand, her grandson had a severe clinical course (end stage renal disease at the age of 45) in spite of the early treatment of mild hypertension. There was found by mutational analysis of PKD genes that the severe clinical course was caused by PKD1 gene frameshifting mutation inherited from his father and mildly affected grandmother in combination with inherited hypomorphic PKD1 allele with described missense mutation (p.Thr2250Met) from his clinically healthy mother. The sister with two cysts and with PKD1 hypomorphic allele became the kidney donor to her severely affected brother. We present the first case of ADPKD with the influence of mosaicism and hypomorphic allele of the PKD1 gene on clinical course of ADPKD in one family. Moreover, this report illustrates the role of molecular genetic testing in assessing young related kidney donors for patients with ADPKD.

  18. Generation to Generation: The Heart of Family Medicine

    Science.gov (United States)

    Winter, Robin O.

    2012-01-01

    According to the American Board of Family Medicine, "The scope of family medicine encompasses all ages, both sexes, each organ system and every disease entity." What makes the seemingly daunting task of practicing family medicine possible is that family physicians learn to utilize similar clinical reasoning for all of their patients…

  19. Psychometric Properties of the Penn State Worry Questionnaire for Children in a Large Clinical Sample

    Science.gov (United States)

    Pestle, Sarah L.; Chorpita, Bruce F.; Schiffman, Jason

    2008-01-01

    The Penn State Worry Questionnaire for Children (PSWQ-C; Chorpita, Tracey, Brown, Collica, & Barlow, 1997) is a 14-item self-report measure of worry in children and adolescents. Although the PSWQ-C has demonstrated favorable psychometric properties in small clinical and large community samples, this study represents the first psychometric…

  20. [Family medicine and functional somatic syndromes].

    Science.gov (United States)

    Nago, Naoki

    2009-09-01

    Between psychosomatic medicine and psychiatry, FSS (functional somatic syndromes) patients are often visiting a family doctor. For FSS, the role of family physicians is large, but the family physicians are not required for the role of diagnosis and treatment of FSS. Rather, appropriate referral to a specialist to exclude organic disease is important and a role as the coordinator is large to the patient to refuse a psychiatric consultation. To serve as a role for such coordination, a family physician has to response the patient's emotional side and focus on the construction of the doctor-patient relationship and response. I also think of structuralism medicine approach to describe disease from the meta-level as a new procedure to the patient. This approach consists of 4 components, 'entity', 'phenomenon', 'words', and 'I'. This may be a useful approach to family physicians who coordinate the overall for FSS patients' management.

  1. Distinguishing bipolar II depression from major depressive disorder with comorbid borderline personality disorder: demographic, clinical, and family history differences.

    Science.gov (United States)

    Zimmerman, Mark; Martinez, Jennifer H; Morgan, Theresa A; Young, Diane; Chelminski, Iwona; Dalrymple, Kristy

    2013-09-01

    Because of the potential treatment implications, it is clinically important to distinguish between bipolar II depression and major depressive disorder with comorbid borderline personality disorder. The high frequency of diagnostic co-occurrence and resemblance of phenomenological features has led some authors to suggest that borderline personality disorder is part of the bipolar spectrum. Few studies have directly compared patients with bipolar disorder and borderline personality disorder. In the present study from the Rhode Island Methods to Improve Diagnostic Assessment and Services project, we compared these 2 groups of patients on demographic, clinical, and family history variables. From December 1995 to May 2012, 3,600 psychiatric patients presenting to the outpatient practice at Rhode Island Hospital (Providence, Rhode Island) were evaluated with semistructured diagnostic interviews for DSM-IV Axis I and Axis II disorders. The focus of the present study is the 206 patients with DSM-IV major depressive disorder and borderline personality disorder (MDD-BPD) and 62 patients with DSM-IV bipolar II depression without borderline personality disorder. The patients with MDD-BPD were significantly more often diagnosed with posttraumatic stress disorder (P depression had a significantly higher morbid risk for bipolar disorder in their first-degree relatives than the MDD-BPD patients (P depression and major depressive disorder with comorbid borderline personality disorder differed on a number of clinical and family history variables, thereby supporting the validity of this distinction. © Copyright 2013 Physicians Postgraduate Press, Inc.

  2. 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…

  3. "Liderazgo Familiar Intergeneracional": Intergenerational Family Leadership as a New Paradigm of Family Engagement

    Science.gov (United States)

    Montemayor, Aurelio M.; Chavkin, Nancy

    2016-01-01

    Title I schools that serve a large population of low-income students often view families through the lens of an outdated paradigm of family engagement in education, assuming parents are mostly uneducated, ill informed, and much in need of training and support to be good parents. "Comunitario" projects in the Rio Grande Valley of south…

  4. Phenotype-genotype correlation in Wilson disease in a large Lebanese family: association of c.2299insC with hepatic and of p. Ala1003Thr with neurologic phenotype.

    Directory of Open Access Journals (Sweden)

    Julnar Usta

    Full Text Available Genotype phenotype correlations in Wilson disease (WD are best established in homozygous patients or in compound heterozygous patients carrying the same set of mutations. We determined the clinical phenotype of patients with WD carrying the c.2298_2299insC in Exon 8 (c.2299insC or the p. Ala1003Thr missense substitution in Exon 13 mutations in the homozygous or compound heterozygous state. We investigated 76 members of a single large Lebanese family. Their genotypes were determined, and clinical assessments were carried out for affected subjects. We also performed a literature search retrieving the phenotypes of patients carrying the same mutations of our patients in the homozygous or compound heterozygous state. There were 7 consanguineous marriages in this family and the prevalence of WD was 8.9% and of carriers of ATP7B mutation 44.7%. WD was confirmed in 9 out of 76 subjects. All 9 had the c.2299insC mutation, 5 homozygous and 4-compound heterozygous with p. Ala1003Thr. Six of our patients had hepatic, 2 had neurologic and 1 had asymptomatic phenotype. Based on our data and a literature review, clear phenotypes were reported for 38 patients worldwide carrying the c.2299insC mutation. About 53% of those have hepatic and 29% have neurologic phenotype. Furthermore, there were 10 compound heterozygous patients carrying the p. Ala1003Thr mutation. Among those, 80% having c.2299insC as the second mutation had hepatic phenotype, and all others had neurologic phenotype. We hereby report an association between the c.2299insC mutation and hepatic phenotype and between the p. Ala1003Thr mutation and neurologic phenotype.

  5. The use of DNA markers in the pre-clinical diagnosis of familial ...

    African Journals Online (AJOL)

    informative or partially informative in all the families studied. Five haplotypes were found to segregate with the disease locus. The predominant association of two of these haplotypes with FAP in the South African families suggests that two mutations may cause the disease in about 70% of families in this population. Meiotic.

  6. The impact of familial expressed emotion on clinical and personal recovery among patients with psychiatric disorders: The mediating roles of self-stigma content and process.

    Science.gov (United States)

    Chan, Kevin Ka Shing; Lam, Chun Bun

    2018-05-24

    The present study examined the associations of familial expressed emotion (EE) with clinical and personal recovery among patients with psychiatric disorders, as well as the potential mechanisms underlying these associations. Guided by the content-process theory of self-stigma, we hypothesized that EE would be negatively associated with clinical and personal recovery and that these associations would be mediated by self-stigma content and process. A total of 311 patients with psychiatric disorders completed questionnaires on their perceptions of EE, self-stigma, and recovery. Structural equation modeling demonstrated that EE was positively associated with self-stigma content and process, which were in turn negatively associated with clinical and personal recovery. The indirect effects of EE on clinical and personal recovery, via self-stigma content and process, were also significant. Multigroup analyses further demonstrated that the impact of EE on self-stigma and recovery was generalizable across patients with psychotic and nonpsychotic disorders. Theoretically, our findings revealed the potential pathways through which EE may adversely affect psychiatric recovery. Practically, our findings highlighted the importance of designing multipronged intervention programs to reduce familial EE and its potential harmful impact on psychiatric patients. In addition to helping family members improve their knowledge about psychiatric disorders and adjust their communication styles, practitioners should help psychiatric patients develop resilience against EE, mitigate self-stigma, and achieve recovery. (PsycINFO Database Record (c) 2018 APA, all rights reserved).

  7. A Comparison of the McMaster and Circumplex Family Assessment Instruments.

    Science.gov (United States)

    Fristad, Mary A.

    1989-01-01

    Compared clinical rating scales and self-report scales from McMaster and Circumplex models of family functioning with families (N=41). Found McMaster instruments had superior sensitivity; greater correspondence between clinical rating scales and family member self-report inventories on McMaster instruments; and lack of support for the curvilinear…

  8. Novel GABRG2 mutations cause familial febrile seizures

    Science.gov (United States)

    Boillot, Morgane; Morin-Brureau, Mélanie; Picard, Fabienne; Weckhuysen, Sarah; Lambrecq, Virginie; Minetti, Carlo; Striano, Pasquale; Zara, Federico; Iacomino, Michele; Ishida, Saeko; An-Gourfinkel, Isabelle; Daniau, Mailys; Hardies, Katia; Baulac, Michel; Dulac, Olivier; Leguern, Eric; Nabbout, Rima

    2015-01-01

    Objective: To identify the genetic cause in a large family with febrile seizures (FS) and temporal lobe epilepsy (TLE) and subsequently search for additional mutations in a cohort of 107 families with FS, with or without epilepsy. Methods: The cohort consisted of 1 large family with FS and TLE, 64 smaller French families recruited through a national French campaign, and 43 Italian families. Molecular analyses consisted of whole-exome sequencing and mutational screening. Results: Exome sequencing revealed a p.Glu402fs*3 mutation in the γ2 subunit of the GABAA receptor gene (GABRG2) in the large family with FS and TLE. Three additional nonsense and frameshift GABRG2 mutations (p.Arg136*, p.Val462fs*33, and p.Pro59fs*12), 1 missense mutation (p.Met199Val), and 1 exonic deletion were subsequently identified in 5 families of the follow-up cohort. Conclusions: We report GABRG2 mutations in 5.6% (6/108) of families with FS, with or without associated epilepsy. This study provides evidence that GABRG2 mutations are linked to the FS phenotype, rather than epilepsy, and that loss-of-function of GABAA receptor γ2 subunit is the probable underlying pathogenic mechanism. PMID:27066572

  9. 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.

  10. The Effect of Participation in Support Groups on Depression, Anxiety and Stress in Family Caregivers of People with Alzheimers: Randomized clinical trial

    Directory of Open Access Journals (Sweden)

    Fahimeh Taati

    2016-07-01

    Full Text Available This study sought to determine the effect of participation in support groups on the depression, anxiety and stress level of caregivers of patients with Alzheimer. This study was a single blind randomized clinical controlled trial (RCT with 80 family caregivers of people with Alzheimer’s (per group=40. The intervention group participated in eight sessions 1.5- 2 hours in support groups. The tool used in this study was the DASS-21 questionnaire for measuring depression, anxiety and stress level of the caregivers, analysis of parametric data, using SPSS version 21. Findings showed, participation in support groups showed no significant difference on depression, anxiety and stress in family caregivers of Alzheimer patients in the control group and the intervention group. Given that caring for these patients by their family members are very sensitive and costly issues for policy makers and health service providers, community and families of these patients.

  11. Emergence of switch-like behavior in a large family of simple biochemical networks.

    Directory of Open Access Journals (Sweden)

    Dan Siegal-Gaskins

    2011-05-01

    Full Text Available Bistability plays a central role in the gene regulatory networks (GRNs controlling many essential biological functions, including cellular differentiation and cell cycle control. However, establishing the network topologies that can exhibit bistability remains a challenge, in part due to the exceedingly large variety of GRNs that exist for even a small number of components. We begin to address this problem by employing chemical reaction network theory in a comprehensive in silico survey to determine the capacity for bistability of more than 40,000 simple networks that can be formed by two transcription factor-coding genes and their associated proteins (assuming only the most elementary biochemical processes. We find that there exist reaction rate constants leading to bistability in ∼90% of these GRN models, including several circuits that do not contain any of the TF cooperativity commonly associated with bistable systems, and the majority of which could only be identified as bistable through an original subnetwork-based analysis. A topological sorting of the two-gene family of networks based on the presence or absence of biochemical reactions reveals eleven minimal bistable networks (i.e., bistable networks that do not contain within them a smaller bistable subnetwork. The large number of previously unknown bistable network topologies suggests that the capacity for switch-like behavior in GRNs arises with relative ease and is not easily lost through network evolution. To highlight the relevance of the systematic application of CRNT to bistable network identification in real biological systems, we integrated publicly available protein-protein interaction, protein-DNA interaction, and gene expression data from Saccharomyces cerevisiae, and identified several GRNs predicted to behave in a bistable fashion.

  12. The structure of contraceptive education and instruction within nurse led family planning clinics: a grounded theory study.

    Science.gov (United States)

    Hayter, Mark

    2009-09-01

    This study aimed to explore and analyse how nurses instruct women in contraceptive use during consultations in family planning clinics to produce a grounded theory of contraceptive education. Nurses play a key role in instructing women how to use contraception in family planning clinic consultations. These one-to-one situations are encounters where women are taught how to use contraceptive methods effectively. However, very little is known about the nature of these consultations. A qualitative study using a grounded theory approach was used. Three linked 'core categories' emerged from the data analysis. Firstly, women are educated about their body and how it responds to contraception: 'reproductive education'. This core category is closely linked to 'surveillance' where women are taught to monitor their reproductive health and to 'contraceptive regimen' where women are instructed in techniques to successfully use a contraceptive method. Together these three core categories present a grounded theory of 'contraceptive education'. Nursing practice in this important area of women's health care is complex and requires skilled practitioners. This study presents unique empirical data into how nurses conduct one-to-one consultations with women - providing a novel insight into how contraception is explained in clinical situations. Key issues for practice from the data were the lack of a balance when discussing side effects, the rigidity of some instructions and the lack of recognition of risk from sexually transmitted infection. Nurses working in sexual health need to ensure that women understand the often complex instructions they provide and that rigid instruction be occasionally amended to enable some flexibility. The manner in which side-effects are discussed should also be balanced. Nurses need to address the risk of sexually transmitted infections more substantially in contraceptive discussions.

  13. 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

  14. Effect, Feasibility, and Clinical Relevance of Cell Enrichment in Large Volume Fat Grafting

    DEFF Research Database (Denmark)

    Rasmussen, Bo Sonnich; Lykke Sørensen, Celine; Vester-Glowinski, Peter Viktor

    2017-01-01

    Large volume fat grafting is limited by unpredictable volume loss; therefore, methods of improving graft retention have been developed. Fat graft enrichment with either stromal vascular fraction (SVF) cells or adipose tissue-derived stem/stromal cells (ASCs) has been investigated in several animal...... and human studies, and significantly improved graft retention has been reported. Improvement of graft retention and the feasibility of these techniques are equally important in evaluating the clinical relevance of cell enrichment. We conducted a systematic search of PubMed to identify studies on fat graft...... enrichment that used either SVF cells or ASCs, and only studies reporting volume assessment were included. A total of 38 articles (15 human and 23 animal) were included to investigate the effects of cell enrichment on graft retention as well as the feasibility and clinical relevance of cell-enriched fat...

  15. Reunification: keeping families together in crisis.

    Science.gov (United States)

    Blake, Nancy; Stevenson, Kathleen

    2009-08-01

    In reviewing the literature, there has not been a family reunification plan that has worked consistently during disasters. During Hurricane Katrina, there were children who were sent to a shelter in a different state than their patients. When children are involved, the issues become even more difficult, because some children who are preverbal cannot tell their names or their parents names. Tracking systems have been developed but are not interoperable. No central repository has been developed. There are also issues related to transporting patients, psychosocial issues as well as safety issues that are different when children will be unaccompanied by an adult. Two national meetings were held with experts from all over the country who have an expertise in the care of children. Six focused groups were identified: patient movement/transportation; technology/tracking; clinical issues, nonmedical issues; communication/regulatory issues; and pediatric psychosocial support. The second meeting was a consensus conference. Recommendations from each subgroup were presented and voted on. All recommendations were accepted. The issue of reunification of families in disaster is still a problem. Further work needs to be done on tracking systems that are interoperable before another large disaster strike, pediatric psychological issues after a disaster, transporting patients, and care of the pediatric patient who is not accompanied by an adult. Once a system has been developed, the system needs to be tested by large scale drills that practice moving children across state lines and from one area to another.

  16. 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.

  17. Awareness of family medicine discipline among clinical medical ...

    African Journals Online (AJOL)

    Introduction: Undergraduate medical education requires the studying of a wide range of medical specialties to produce the future workforce of the healthcare system. Family medicine (FM), a relatively new specialty in Nigeria, aims at supplying doctors capable of providing comprehensive healthcare for the majority of the ...

  18. Familial history of diabetes and clinical characteristics in Greek subjects with type 2 diabetes

    Directory of Open Access Journals (Sweden)

    Apostolou Ourania

    2009-04-01

    Full Text Available Abstract Background A lot of studies have showed an excess maternal transmission of type 2 diabetes (T2D. The aim, therefore, of the present study was to estimate the prevalence of familial history of T2D in Greek patients, and to evaluate its potential effect on the patient's metabolic control and the presence of diabetic complications. Methods A total of 1,473 T2D patients were recruited. Those with diabetic mothers, diabetic fathers, diabetic relatives other than parents and no known diabetic relatives, were considered separately. Results The prevalence of diabetes in the mother, the father and relatives other than parents, was 27.7, 11.0 and 10.7%, respectively. Patients with paternal diabetes had a higher prevalence of hypertension (64.8 vs. 57.1%, P = 0.05 and lower LDL-cholesterol levels (115.12 ± 39.76 vs. 127.13 ± 46.53 mg/dl, P = 0.006 than patients with diabetes in the mother. Patients with familial diabetes were significantly younger (P 2, P = 0.08, higher prevalence of dyslipidemia (49.8 vs. 44.6%, P = 0.06 and retinopathy (17.9 vs. 14.5%, P = 0.08 compared with patients with no diabetic relatives. No difference in the degree of metabolic control and the prevalence of chronic complications were observed. Conclusion The present study showed an excess maternal transmission of T2D in a sample of Greek diabetic patients. However, no different influence was found between maternal and paternal diabetes on the clinical characteristics of diabetic patients except for LDL-cholesterol levels and presence of hypertension. The presence of a family history of diabetes resulted to an early onset of the disease to the offspring.

  19. Multi-Family Pediatric Pain Group Therapy: Capturing Acceptance and Cultivating Change

    Directory of Open Access Journals (Sweden)

    Samantha E. Huestis

    2017-12-01

    Full Text Available Behavioral health interventions for pediatric chronic pain include cognitive-behavioral (CBT, acceptance and commitment (ACT, and family-based therapies, though literature regarding multi-family therapy (MFT is sparse. This investigation examined the utility and outcomes of the Courage to Act with Pain: Teens Identifying Values, Acceptance, and Treatment Effects (CAPTIVATE program, which included all three modalities (CBT, ACT, MFT for youth with chronic pain and their parents. Program utility, engagement, and satisfaction were evaluated via quantitative and qualitative feedback. Pain-specific psychological, behavioral, and interpersonal processes were examined along with outcomes related to disability, quality of life, pain interference, fatigue, anxiety, and depressive symptoms. Participants indicated that CAPTIVATE was constructive, engaging, and helpful for social and family systems. Clinical and statistical improvements with large effect sizes were captured for pain catastrophizing, acceptance, and protective parenting but not family functioning. Similar effects were found for functional disability, pain interference, fatigue, anxiety, and depression. Given the importance of targeting multiple systems in the management of pediatric chronic pain, preliminary findings suggest a potential new group-based treatment option for youth and families. Next steps involve evaluating the differential effect of the program over treatment as usual, as well as specific CBT, ACT, and MFT components and processes that may affect outcomes.

  20. Spiritual diversity: multifaith perspectives in family therapy.

    Science.gov (United States)

    Walsh, Froma

    2010-09-01

    This paper addresses the growing diversity and complexity of spirituality in society and within families. This requires a broadly inclusive, multifaith approach in clinical training and practice. Increasingly, individuals, couples, and families seek, combine, and reshape spiritual beliefs and practices--within and among faiths and outside organized religion--to fit their lives and relationships. With rising faith conversion and interfaith marriages, the paper examines challenges in multifaith families, particularly with marriage, childrearing, and the death of a loved one. Clinical guidelines, cautions, and case examples are offered to explore the role and significance of spiritual beliefs and practices in couple and family relationships; to identify spiritual sources of distress and relational conflict; and to draw potential spiritual resources for healing, well-being, and resilience, fitting client values and preferences. 2010 © FPI, Inc.

  1. Large scale implementation of clinical medication reviews in Dutch community pharmacies: Drug-related problems and interventions

    NARCIS (Netherlands)

    Kempen, Thomas G. H.; Van De Steeg-Van Gompel, Caroline H. P. A.; Hoogland, Petra; Liu, Yuqian; Bouvy, Marcel L.

    2014-01-01

    Background: Research on the benefits of clinical medication reviews (CMRs) performed by pharmacists has been conducted mostly in controlled settings and has been widely published. Less is known of the effects after large scale implementation in community pharmacies. An online CMR tool enabled the

  2. FAMILIAL ALOPECIA ARETA, ATOPY AND THYROIDITIS HASHIMOTO

    Directory of Open Access Journals (Sweden)

    Ani Tsvetanova

    2004-10-01

    Full Text Available We present a case of morbid association of two organ-specific autoimmune diseases (Alopecia areata-AA and Thyreoiditis Hashimoto-TH in two white sisters - 23 and 26 years old. There is no family history of AA or any autoimmune disorders. The onset of AA, in the both sisters was in early childhood (3 and 7 years of age. The clinical and laboratory examinations showed engagement of the scalp with round or oval large patches of alopecia, without involvement of the body hairs and nails. There were also alterations of thyroid gland function, positive TMA (Thyroid Microsomal Antibodies and Rö-data of Pituitary adenoma as well as episodes of allergic rhinitis (in one of the sisters, and bronchial asthma (in the other. According to Ikeda’s classification, they have an "Atopic type" AA. We suppose that the observed case is not an occasional coincidence of AA and TH. HLA Aw32B18 determination could be support our suggesting about the familial pattern of these autoimmune diseases.

  3. Parent-Reported Family Functioning Among Children With Cleft Lip/Palate.

    Science.gov (United States)

    Crerand, Canice E; Rosenberg, Janine; Magee, Leanne; Stein, Margot B; Wilson-Genderson, Maureen; Broder, Hillary L

    2015-11-01

    To examine family functioning related to sociodemographic and clinical characteristics in youth with cleft lip and/or palate (CL/P). Cross-sectional, multi-site investigation. Six U.S. cleft centers. A diverse sample of 1200 children with CL/P and their parents. Parents completed the Family Environment Scale (FES), which assesses three domains of family functioning: cohesion (or closeness), expressiveness (open expression of feelings), and conflict. Demographic and clinical characteristics were also assessed including race, ethnicity, type of insurance, and surgical recommendations. The FES scores for families seeking team evaluations for their youth with CL/P (mean age = 11.6 years) fall within the average range compared with normative samples. Families receiving surgical recommendations for their youth also had FES scores in the average range, yet families of children recommended for functional surgery reported greater cohesion, expressiveness, and less conflict compared with those recommended for aesthetic surgery (P conflict domain. Families with private insurance reported significantly greater cohesion (P functioning across domains was in the average range. However, observed differences by race, ethnicity, type of insurance, and surgical recommendation may warrant consideration in clinical management for patients and families.

  4. Veritas Asteroid Family Still Holds Secrets?

    Science.gov (United States)

    Novakovic, B.

    2012-12-01

    Veritas asteroid family has been studied for about two decades. These studies have revealed many secrets, and a respectable knowledge about this family had been collected. Here I will present many of these results and review the current knowledge about the family. However, despite being extensively studied, Veritas family is still a mystery. This will be illustrated through the presentation of the most interesting open problems. Was there a secondary collision within this family? Does asteroid (490) Veritas belong to the family named after it? How large was the parent body of the family? Finally, some possible directions for future studies that aims to address these questions are discussed as well.

  5. Familial idiopathic pulmonary fibrosis. Evidence of lung inflammation in unaffected family members

    International Nuclear Information System (INIS)

    Bitterman, P.B.; Rennard, S.I.; Keogh, B.A.; Wewers, M.D.; Adelberg, S.; Crystal, R.G.

    1986-01-01

    We evaluated 17 clinically unaffected members of three families with an autosomal dominant form of idiopathic pulmonary fibrosis for evidence of alveolar inflammation. Each person in the study was examined by gallium-67 scanning for a general estimate of pulmonary inflammation, and by bronchoalveolar lavage for characterization of the types of recovered cells and their state of activation. Eight of the 17 subjects had evidence of alveolar inflammation on the lavage studies. Supporting data included increased numbers of neutrophils and activated macrophages that released one or more neutrophil chemoattractants, and growth factors for lung fibroblasts--findings similar to those observed in patients with overt idiopathic pulmonary fibrosis. Four of these eight also had a positive gallium scan; in all the other clinically unaffected subjects the scan was normal. During a follow-up of two to four years in seven of the eight subjects who had evidence of inflammation, no clinical evidence of pulmonary fibrosis has appeared. These results indicate that alveolar inflammation occurs in approximately half the clinically unaffected family members at risk of inheriting autosomal dominant idiopathic pulmonary fibrosis. Whether these persons with evidence of pulmonary inflammation but no fibrosis will proceed to have clinically evident pulmonary fibrosis is not yet known

  6. Large intragenic deletion of CDC73 (exons 4-10) in a three-generation hyperparathyroidism-jaw tumor (HPT-JT) syndrome family.

    Science.gov (United States)

    Guarnieri, Vito; Seaberg, Raewyn M; Kelly, Catherine; Jean Davidson, M; Raphael, Simon; Shuen, Andrew Y; Baorda, Filomena; Palumbo, Orazio; Scillitani, Alfredo; Hendy, Geoffrey N; Cole, David E C

    2017-08-03

    Inactivating mutations of CDC73 cause Hyperparathyroidism-Jaw Tumour syndrome (HPT-JT), Familial Isolated Hyperparathyroidism (FIHP) and sporadic parathyroid carcinoma. We conducted CDC73 mutation analysis in an HPT-JT family and confirm carrier status of the proband's daughter. The proband had primary hyperparathyroidism (parathyroid carcinoma) and uterine leiomyomata. Her father and daughter had hyperparathyroidism (parathyroid adenoma) but no other manifestations of HPT-JT. CDC73 mutation analysis (sequencing of all 17 exons) and whole-genome copy number variation (CNV) analysis was done on leukocyte DNA of the three affecteds as well as the proband's unaffected sister. A novel deletion of exons 4 to 10 of CDC73 was detected by CNV analysis in the three affecteds. A novel insertion in the 5'UTR (c.-4_-11insG) that co-segregated with the deletion was identified. By in vitro assay the 5'UTR insertion was shown to significantly impair the expression of the parafibromin protein. Screening for the mutated CDC73 confirmed carrier status in the proband's daughter and the biochemistry and ultrasonography led to pre-emptive surgery and resolution of the hyperparathyroidism. A novel gross deletion mutation in CDC73 was identified in a three-generation HPT-JT family emphasizing the importance of including screening for large deletions in the molecular diagnostic protocol.

  7. The Relative Importance of Family History, Gender, Mode of Onset, and Age at Onsetin Predicting Clinical Features of First-Episode Psychotic Disorders.

    Science.gov (United States)

    Compton, Michael T; Berez, Chantal; Walker, Elaine F

    Family history of psychosis, gender, mode of onset, and age at onset are considered prognostic factors important to clinicians evaluating first-episode psychosis; yet, clinicians have little guidance as to how these four factors differentially predict early-course substance abuse, sympt