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Sample records for familial hyperaldosteronism type

  1. Examination of chromosome 7p22 candidate genes RBaK, PMS2 and GNA12 in familial hyperaldosteronism type II.

    Science.gov (United States)

    Jeske, Y W A; So, A; Kelemen, L; Sukor, N; Willys, C; Bulmer, B; Gordon, R D; Duffy, D; Stowasser, M

    2008-04-01

    1. There are two types of familial hyperaldosteronism (FH): FH-I and FH-II. FH-I is caused by a hybrid CYP11B1/CYP11B2 gene mutation. The genetic cause of FH-II, which is more common, is unknown. Adrenal hyperplasia and adenomas are features. We previously reported linkage of FH-II to a approximately 5 Mb region on chromosome 7p22. We subsequently reported finding no causative mutations in the retinoblastoma-associated Kruppel-associated box gene (RBaK), a candidate at 7p22 involved in tumorigenesis and cell cycle control. 2. In the current study we investigated RBaK regulatory regions and two other candidate genes: postmeiotic segregation increased 2 (PMS2, involved in DNA mismatch repair and tumour predisposition) and guanine nucleotide-binding protein alpha-12 (GNA12, a transforming oncogene). 3. The GNA12 and PMS2 genes were examined in two affected (A1, A2) and two unaffected (U1, U2) subjects from a large 7p22-linked FH-II family (family 1). No mutations were found. 4. The RBaK and PMS2 distal promoters were sequenced to -2150 bp from the transcription start site for RBaK and-2800 bp for PMS2. Five unreported single nucleotide polymorphisms (SNPs) were found in subjects A1, A2 but not in U1 or U2; A(-2031 bp)T, T(-2030 bp)G, G(-834 bp)C, C(-821 bp)G in RBaK and A(-876 bp)G in PMS2. Additional affected and unaffected subjects from family 1 and from two other 7p22-linked FH-II families and 58 unrelated normotensive control subjects were genotyped for these SNPs. 5. The five novel SNPs were found to be present in a significant proportion of normotensive controls. The four RBaK promoter SNPs were found to be in linkage disequilibrium in the normal population. The RBaK promoter (-)2031T/2030G/834C/821T allele was found to be in linkage disequilibrium with the causative mutation in FH-II family 1, but not in families 2 and 3. The PMS2 promoter (-)876G allele was also found to be linked to affected phenotypes in family 1. 6. The RBaK and PMS2 promoter SNPs alter the

  2. [Pseudohypoparathyroidism associated with hyperaldosteronism and polyglobulia].

    Science.gov (United States)

    Battaia, L; Pedrazzoli, M; Pachor, M L; Bambara, L M; Corrocher, R

    1984-04-07

    A new case of familial PHP, associated with polyglobulia and biochemical parameters of hyperaldosteronism has been described. This association represents a very rare entity. PHP has been documented by the common tests and the unresponsiveness of AMPc to PTH. The poliglobulia , which appears after a period of severe anaemia, needs now periodical blood subtraction; nevertheless a cerebral thrombosis with conseguent hemiparesis has recently occurred. The hyperaldosteronism has been documented by hypopotassiemia , a raised level of plasma aldosterone as well as suppressed plasma renin activity even after adequate stimulus.

  3. Adrenal incidentalomas. Primary hyperaldosteronism

    International Nuclear Information System (INIS)

    Murat, A.; Dupas, B.; Zenatti, M.; Aupetit-Faisant, B.; Tenenbaum, F.; Tabarin, A.; Barrat, J.L.; Gosse, P.; Olivier-Puel, F.; Leprat, F.; Trouette, H.; Laurent, F.; Roger, P.

    1993-01-01

    Adrenal incidentalomas are masses incidentally discovered at X rays, ultrasound or MRI examination of the abdomen. In 100 CT scans, one can expect to find two incidentalomas on average. The article by Murat and Dupas is dealing with the strategy of biological, morphological and scintigraphic examinations to be performed in such patients, to assess whether the tumor is of a benign or a malignant nature. Zenatti et al propose a detailed exploration of the aldosterone pathways, since adrenal carcinoma may be responsible for a specific profile of the serum concentrations of mineralo-steroids, compatible with a blockade of the last step of the aldosterone synthesis. The exploration of primary hyperaldosteronism requires biological and imaging techniques. Tabarin et al summarize the main biological parameters and tests available for the diagnosis of this condition and delineate the indications of imaging techniques, associated to hormonal tests to distinguish between adenoma and bilateral adrenal hyperplasia. (author). 104 refs

  4. Primary Hyperaldosteronism As A Risk Factor For Recurrent Nephrolithiasis

    Directory of Open Access Journals (Sweden)

    Ekamol Tantisattamo

    2012-06-01

    Hyperaldosteronism can cause hypercalciuria, phosphaturia, and hypocitraturia, all of which are risk factors for nephrolithiasis. Additionally, hyperaldosteronism and deoxycorticosterone mediated hypertension have been associated with hypocalcemia and secondary hyperparathyroidism. Our case augments earlier literature suggesting increased risk for nephrolithiasis in patients with hyperaldosteronism and suggests that hyperaldosteronism should be considered as a risk factor for patient with nephrolithiasis. It remains unclear if both primary and secondary hyperaldosteronism increase the relative risk for nephrolithiasis and the role of aldosterone receptor antagonist therapy for recurrent nephrolithiasis associated with hyperaldosteronism.

  5. Primary hyperaldosteronism in cats: expanding the diagnostic net

    NARCIS (Netherlands)

    Djajadiningrat-Laanen, S.C.

    2014-01-01

    Primary hyperaldosteronism or low-renin hyperaldosteronism in cats is characterized by inappropriately high aldosterone secretion from one or both adrenal glands, with systemic arterial hypertension and hypokalemia as leading clinical manifestations. In this thesis, non-tumorous primary

  6. A case report of hyperaldosteronism due to aldosteronoma

    Directory of Open Access Journals (Sweden)

    Rabiy Hashemi M

    1997-08-01

    Full Text Available Primary hyperaldosteronism is one of the few causes of hypertension that can be cured by surgery. Primary hyperaldosteronism is caused by adrenocortical adenoma or hyperplasia. It is important to differentiate between adrenal adenoma and hyperplasia because the preferred treatments are different. In all patients with new-onest or worsening hypertension the primary hyperaldosteronism should be considered as an etiology. Patients with primary hyperaldosteronism classically have hypertension with spontaneous hypokalemia. The serum sodium concentration is usually normal in patients with primary aldosteronism who are not taking diuretics. Weakness, fatigue, paresthesia, tetany and even paralysis may develop. Renin and angiotensin II are suppressed in both forms of primary hyperaldosteronism due to feedback. Polyuria may develop secondary to vasopressin resistance from chronic hyperkaliuria. Hypertension or eclampsia during pregnancy is common in women with primary hyperaldosteronism. Case report: A 42-years-old woman presented with headache, severe hypertension, general weakness, easy fatigability, vertigo, palpitation, visual disorders and nocturia. She had a past history of eclampsia 10 years ago. In laboratory investigation there was hypokalemia, elevated serum aldosterone, low renin activity and hyperkaliuria. In abdominal CT-scan there was a hypodense mass measuring 2 cm in diameter in her left adrenal gland. The patient had primary hyperaldosteronism due to aldosteronoma.

  7. Contribution of computerized tomography to diagnosis of primary hyperaldosteronism

    International Nuclear Information System (INIS)

    Hrabaneova, J.; Stribrna, J.; Bultasova, H.; Karasova, L.; Placer, Z.; Pinsker, P.

    1987-01-01

    Two cases are reported of computerized tomography (CT) examination for proof of suspect primary hyperaldosteronism caused by adenoma of the adrenals. The findings were then confirmed surgically and histologically. CT was again found to be an invaluable tool for differential diagnosis of this condition, which spared the patients demanding invasive examinations and clearly differentiated primary hyperaldosteronism from adrenal cortex hyperplasia. This is mainly important for the fact that adenoma or more rarely carcinoma causing primary hyperaldosteronism can surgically be removed. (L.O.). 2 figs., 2 tabs., 6 refs

  8. Feline primary hyperaldosteronism: an emerging endocrine disease

    Directory of Open Access Journals (Sweden)

    Daniel Diola Bento

    2016-04-01

    Full Text Available ABSTRACT: The primary hyperaldosteronism, an endocrine disease increasingly identified in cats, is characterized by adrenal gland dysfunction that interferes with the renin-angiotensin-aldosterone system, triggering the hypersecretion of aldosterone. Pathophysiological consequences of excessive aldosterone secretion are related to increased sodium and water retention, and increased excretion of potassium, which induce hypertension and severe hypokalemia, respectively. The most common clinical findings in cats include: polydipsia, nocturia, polyuria, generalized weakness, neck ventroflexion, syncope, anorexia, weight loss, pendulous abdomen and blindness. Diagnosis is based on the evidence of hormonal hypersecretion with suppression of renin release, imaging and histopathological evaluation of adrenal glands. Treatment may be curative with adrenalectomy, in cases of unilateral disease, or conservative, through administration of aldosterone antagonists, potassium supplementation and antihypertensives. Prognosis varies from fair to good with the appropriate therapy. This article reviews the main aspects of primary aldosteronism in cats, providing the clinician with important information for the diagnosis of this disease.

  9. Type Families with Class, Type Classes with Family

    DEFF Research Database (Denmark)

    Serrano, Alejandro; Hage, Jurriaan; Bahr, Patrick

    2015-01-01

    Type classes and type families are key ingredients in Haskell programming. Type classes were introduced to deal with ad-hoc polymorphism, although with the introduction of functional dependencies, their use expanded to type-level programming. Type families also allow encoding type-level functions......, now as rewrite rules. This paper looks at the interplay of type classes and type families, and how to deal with shortcomings in both of them. Furthermore, we show how to use families to simulate classes at the type level. However, type families alone are not enough for simulating a central feature...... of type classes: elaboration, that is, generating code from the derivation of a rewriting. We look at ways to solve this problem in current Haskell, and propose an extension to allow elaboration during the rewriting phase....

  10. [Primary hyperaldosteronism due to unilateral adrenal hyperplasia with surgical resolution].

    Science.gov (United States)

    Rubio-Puchol, O; Garzón-Pastor, S; Salom-Vendrell, C; Hernández-Mijares, A

    Unilateral adrenal hyperplasia is a rare cause of primary hyperaldosteronism (around a 3%) that has surgical treatment. A case of a patient with hypertension resistant to conventional therapy in treatment with 7 drugs who presented with primary hyperaldosteronism due to unilateral adrenal hyperplasia is presented. A left adrenalectomy was performed, and the patient had a good clinical response, with no need of any drug after 2 years of surgery. Unilateral adrenal hyperplasia is a different entity and it is not an asymmetric variant of the bilateral adrenal hyperplasia. In the study of patients with primary hyperaldosteronism and imaging tests with absence of adenoma is a diagnosis that must be considered before cataloguing patients with bilateral adrenal hyperplasia and start a medical treatment, because unilateral adrenal hyperplasia would have a surgical resolution. Copyright © 2016 SEH-LELHA. Publicado por Elsevier España, S.L.U. All rights reserved.

  11. Familial colorectal cancer type X

    DEFF Research Database (Denmark)

    Dominguez-Valentin, Mev; Therkildsen, Christina; Da Silva, Sabrina

    2015-01-01

    Heredity is a major cause of colorectal cancer, but although several rare high-risk syndromes have been linked to disease-predisposing mutations, the genetic mechanisms are undetermined in the majority of families suspected of hereditary cancer. We review the clinical presentation, histopathologic...... features, and the genetic and epigenetic profiles of the familial colorectal cancer type X (FCCTX) syndrome with the aim to delineate tumor characteristics that may contribute to refined diagnostics and optimized tumor prevention....

  12. Familial Colorectal Cancer Type X

    DEFF Research Database (Denmark)

    Zetner, Diana Bregner; Bisgaard, Marie Luise

    2017-01-01

    The genetic background is unknown for the 50-60% of the HNPCC families, who fulfill the Amsterdam criteria, but do not have a mutation in an MMR gene, and is referred to as FCCTX. This study reviews the clinical, morphological and molecular characteristics of FCCTX, and discusses the molecular ge...

  13. On the effect of hyperaldosteronism-inducing mutations in Na/K pumps.

    Science.gov (United States)

    Meyer, Dylan J; Gatto, Craig; Artigas, Pablo

    2017-11-06

    Primary aldosteronism, a condition in which too much aldosterone is produced and that leads to hypertension, is often initiated by an aldosterone-producing adenoma within the zona glomerulosa of the adrenal cortex. Somatic mutations of ATP1A1, encoding the Na/K pump α1 subunit, have been found in these adenomas. It has been proposed that a passive inward current transported by several of these mutant pumps is a "gain-of-function" activity that produces membrane depolarization and concomitant increases in aldosterone production. Here, we investigate whether the inward current through mutant Na/K pumps is large enough to induce depolarization of the cells that harbor them. We first investigate inward currents induced by these mutations in Xenopus Na/K pumps expressed in Xenopus oocytes and find that these inward currents are similar in amplitude to wild-type outward Na/K pump currents. Subsequently, we perform a detailed functional evaluation of the human Na/K pump mutants L104R, delF100-L104, V332G, and EETA963S expressed in Xenopus oocytes. By combining two-electrode voltage clamp with [ 3 H]ouabain binding, we measure the turnover rate of these inward currents and compare it to the turnover rate for outward current through wild-type pumps. We find that the turnover rate of the inward current through two of these mutants (EETA963S and L104R) is too small to induce significant cell depolarization. Electrophysiological characterization of another hyperaldosteronism-inducing mutation, G99R, reveals the absence of inward currents under many different conditions, including in the presence of the regulator FXYD1 as well as with mammalian ionic concentrations and body temperatures. Instead, we observe robust outward currents, but with significantly reduced affinities for intracellular Na + and extracellular K + Collectively, our results point to loss-of-function as the common mechanism for the hyperaldosteronism induced by these Na/K pump mutants. © 2017 Meyer et al.

  14. Type III Bartter-like syndrome in an infant boy with Gitelman syndrome and autosomal dominant familial neurohypophyseal diabetes insipidus.

    Science.gov (United States)

    Brugnara, Milena; Gaudino, Rossella; Tedeschi, Silvana; Syrèn, Marie-Louise; Perrotta, Silverio; Maines, Evelina; Zaffanello, Marco

    2014-09-01

    We report the case of an infant boy with polyuria and a familial history of central diabetes insipidus. Laboratory blood tests disclosed hypokalemia, metabolic alkalosis, hyperreninemia, and hyperaldosteronism. Plasma magnesium concentration was slightly low. Urine analysis showed hypercalciuria, hyposthenuria, and high excretion of potassium. Such findings oriented toward type III Bartter syndrome (BSIII). Direct sequencing of the CLCNKB gene revealed no disease-causing mutations. The water deprivation test was positive. Magnetic resonance imaging showed a lack of posterior pituitary hyperintensity. Finally, direct sequencing of the AVP-NPII gene showed a point mutation (c.1884G>A) in a heterozygous state, confirming an autosomal dominant familial neurohypophyseal diabetes insipidus (adFNDI). This condition did not explain the patient's phenotype; thus, we investigated for Gitelman syndrome (GS). A direct sequencing of the SLC12A3 gene showed c.269A>C and c.1205C>A new mutations. In conclusion, the patient had a genetic combination of GS and adFNDI with a BSIII-like phenotype.

  15. Relative value of computed tomography scanning and venous sampling in establishing the cause of primary hyperaldosteronism

    International Nuclear Information System (INIS)

    Sheaves, R.; Goldin, J.; Reznek, R.H.

    1996-01-01

    The purpose of this study was to evaluate the relative merits of the postural simulation test, adrenal computed tomography (CT) and venous sampling in the differential diagnosis of patients presenting with primary hyperaldosteronism. The records of 20 patients presenting with primary hyperaldosteronism were reviewed retrospectively. There were 15 patients with a unilateral aldosterone-producing adenoma (APA), 4 patients with idiopathic hyperaldosteronism (IHA) and 1 patient with primary adrenal hyperplasia (PAH). Bilateral venous sampling of adrenal veins was attempted in all patients and blood collected for aldosterone and cortisol assay. Plasma aldosterone concentration increased after 4 h of standing in all cases of hyperplasia, but was also demonstrated in 10/15 patients with a surgically-proven APA. CT scanning correctly identified all 15 cases of APA and also classified correctly the remaining 5 cases of hyperplasia. CT scanning may be used alone to confirm the cause of hyperaldosteronism where postural studies suggest an adrenal adenoma, and such patients may be considered for early surgery. 21 refs

  16. An unusual type of familial lipodystrophy

    DEFF Research Database (Denmark)

    Johansen, K; Rasmussen, M H; Kjems, L L

    1995-01-01

    A mother and her daughter with a novel type of familial partial lipodystrophy were studied. Both had atrophy of fat in the face, chest, and upper and lower limbs and abdominal obesity caused by intraabdominal fat accumulation. The mother had severe insulin resistance and impaired glucose tolerance...

  17. A case of low renin hyperaldosteronism considered to be aldosterone-producing adrenocortical adenoma by CT image of adrenal gland

    International Nuclear Information System (INIS)

    Hayashi, Kozo; Tsuchihashi, Yoshihiro; Ito, Kazuro; Ozono, Noboru

    1983-01-01

    A case was reported in which hypertension, hypopotassemia, low plasma renin activity and hyperaldosteronemia were observed. Imaging suggested adrenocortical adenoma, leading to the diagnosis of low renin hyperaldosteronism. (Chiba, N.)

  18. Netherton Syndrome in a Neonate with Possible Growth Hormone Deficiency and Transient Hyperaldosteronism

    Directory of Open Access Journals (Sweden)

    Chatziioannidis Ilias

    2015-01-01

    Full Text Available Netherton syndrome, a rare autosomal recessive genetic disorder, is classified as an ichthyosiform syndrome. In this report we present the case of a neonate with erythroderma shortly after birth, accompanied by severe hypernatremia, recurrent infections, transient hyperaldosteronism, and signs of growth hormone (GH deficiency. DNA molecular analysis in the SPINK5 gene revealed heterozygosity in our index patient for 238insG and 2468delA frameshift mutations in exons 4 and 26, respectively, in the maternal allele and 1431-12G>A splice-site mutation in intron 15 in the paternal allele as well as the missense variation E420K in homozygous state. Combination of the identified mutations along with transient hyperaldosteronism and possible GH deficiency have not been described before. Accordingly, the importance of early multidisciplinary approach is highlighted, in order to reach accurate diagnosis, initiate prompt treatment, and ensure survival with fewer disease complications.

  19. Secondary hyperaldosteronism, caused by abnormalities of the renal vessels, in clinical endocrinologist

    Directory of Open Access Journals (Sweden)

    Tatjana N. Markova

    2016-03-01

    Full Text Available Aldosterone levels increase in clinical practice may be due to primary or secondary hyperaldosteronism. Secondary hyperaldosteronism (CAA is a clinical syndrome caused by increased synthesis of renin juxtaglomerular apparatus of the kidneys in response to lower perfusion pressure in the afferent glomerular arteriole. This mechanism leads to activation of the renin-angiotensin-aldosterone system with a consequent increase in systemic blood pressure. Clinically manifested CAA secondary (systemic arterial hypertension, the most common form of parenchymal renal disease and renal vascular lesions. Renovascular diseases are a heterogeneous group of pathologies, which includes atherosclerosis of renal arteries, the most common cause; fibromuscular dysplasia (FMD; other more rare diseases, accompanied by a narrowing of the lumen of the renal vessels. Some authors consider the possibility of including a group of renovascular disease presence of multiple renal arteries. Тhe article presents the clinical cases of secondary hyperaldosteronism, caused by FMD and abnormal amounts of the renal arteries, manifested hypertension and increased levels of aldosterone in the blood. Carrying out a detailed search of the diagnostic determination of the ratio of aldosterone to plasma renin helped eliminate endocrine genesis of the disease and to identify the true cause of aldosteronism.

  20. New families of interpolating type IIB backgrounds

    Science.gov (United States)

    Minasian, Ruben; Petrini, Michela; Zaffaroni, Alberto

    2010-04-01

    We construct new families of interpolating two-parameter solutions of type IIB supergravity. These correspond to D3-D5 systems on non-compact six-dimensional manifolds which are mathbb{T}2 fibrations over Eguchi-Hanson and multi-center Taub-NUT spaces, respectively. One end of the interpolation corresponds to a solution with only D5 branes and vanishing NS three-form flux. A topology changing transition occurs at the other end, where the internal space becomes a direct product of the four-dimensional surface and the two-torus and the complexified NS-RR three-form flux becomes imaginary self-dual. Depending on the choice of the connections on the torus fibre, the interpolating family has either mathcal{N}=2 or mathcal{N}=1 supersymmetry. In the mathcal{N}=2 case it can be shown that the solutions are regular.

  1. Hypokalemic paralysis due to primary hyperaldosteronism simulating gitelman′s syndrome

    Directory of Open Access Journals (Sweden)

    Kasifoglu Timucin

    2009-01-01

    Full Text Available Some diseases, such as Gitelman′s syndrome, Bartter′s syndrome, and primary hyperaldosteronism (Conn′s syndrome, may bear some similar clinical and laboratory findings. Their treatment modalities being different from one another, the need for a scrupulous diagnostic evaluation arises as far as clinical practice is concerned. In this report, we present a patient with Conn′s syndrome who was initially considered to have Gitelman′s syndrome due to displaying a few overlapping features of both diseases. We also give an account of the hardships encountered during the diagnostic evaluation.

  2. Relationship between parenting style, family type, personality ...

    African Journals Online (AJOL)

    208 females) from single parent, monogamous and polygamous families responded ... It was hypothesized that: there would be significant and positive correlations ... self esteem, need for achievement, locus of control, sense of competence and ... that young people from families where authoritative parenting was practiced ...

  3. Obesogenic family types identified through latent profile analysis.

    Science.gov (United States)

    Martinson, Brian C; VazquezBenitez, Gabriela; Patnode, Carrie D; Hearst, Mary O; Sherwood, Nancy E; Parker, Emily D; Sirard, John; Pasch, Keryn E; Lytle, Leslie

    2011-10-01

    Obesity may cluster in families due to shared physical and social environments. This study aims to identify family typologies of obesity risk based on family environments. Using 2007-2008 data from 706 parent/youth dyads in Minnesota, we applied latent profile analysis and general linear models to evaluate associations between family typologies and body mass index (BMI) of youth and parents. Three typologies described most families with 18.8% "Unenriched/Obesogenic," 16.9% "Risky Consumer," and 64.3% "Healthy Consumer/Salutogenic." After adjustment for demographic and socioeconomic factors, parent BMI and youth BMI Z-scores were higher in unenriched/obesogenic families (BMI difference = 2.7, p typology. In contrast, parent BMI and youth BMI Z-scores were similar in the risky consumer families relative to those in healthy consumer/salutogenic type. We can identify family types differing in obesity risks with implications for public health interventions.

  4. Effect of Family Type on Secondary School Students\\' Performance ...

    African Journals Online (AJOL)

    This study investigated the effect of family type on Secondary School students\\' performance in physics in Ilorin metropolis. The sample comprised one hundred Senior Secondary II students from four schools in Ilorin metropolis. The instrument for the study titled \\"Effect of Family type on Students\\' Performance in Physics ...

  5. Type A radioactive liquid sample packaging family

    International Nuclear Information System (INIS)

    Edwards, W.S.

    1995-11-01

    Westinghouse Hanford Company (WHC) has developed two packagings that can be used to ship Type A quantities of radioactive liquids. WHC designed these packagings to take advantage of commercially available items where feasible to reduce the overall packaging cost. The Hedgehog packaging can ship up to one liter of Type A radioactive liquid with no shielding and 15 cm of distance between the liquid and the package exterior, or 30 ml of liquid with 3.8 cm of stainless steel shielding and 19 cm of distance between the liquid and the package exterior. The One Liter Shipper can ship up to one liter of Type A radioactive liquid that does not require shielding

  6. Geriatric Family Support and Diabetic Type-2 Glycemic Control

    Directory of Open Access Journals (Sweden)

    Shiva Heidari

    2008-07-01

    Full Text Available Objectives: As the most part of geriatric (65 years and older diabetic care is given at home, family support has an important role in their blood sugar level control care. This study aimed to assess the relationship between family support and blood sugar level control in such elderly suffering type-2 diabetes. Methods & Materials: Via descriptive-correlative study, one hundred fifty geriatric patients with type-2 diabetes, who referred to Institute of Endocrinology and Metabolism in Iran University of Medical Sciences were selected. Samplings based on nonrandomized and convenience. The questionnaire consisted of three sections: demographic data glucose-labeled hemoglobin (HbA1C and received-perceived family support by applying the standard questionnaire of "Diabetes Social Support-Family Version" format. Data were analyzed by SPSS version 15 by using Chi-square and Pierson Tests. Results: Results showed a significant relationship between family support and glycemic control (r=-0.56, P<0.0001. Also there were significant relationships between family support, gender and marital status (P<0.0001. There were also significant relationships between glycemic control and marital status (P=0.02, financial status (P=0.04 and educational level (P=0.05. Conclusion: Findings of this research added further evidence about the impact of family support on the health of older adults with diabetes. These findings suggest using family centered nursing interventions and collaboration of family members in care of the elderly with type-2 diabetes.

  7. Geographic Region, Size, and Program Type in Family Practice Residencies.

    Science.gov (United States)

    Berg, Jolene K.; Garrard, Judith

    1981-01-01

    Research on residency education in family practice is discussed. Programmatic variables are examined: geographic region, size, and type of program. Definitions of these variables are provided, the current distribution of family practice residency programs across each of these variables is described, and data for use by other researchers is…

  8. Chudnovsky-Ramanujan Type Formulae for the Legendre Family

    OpenAIRE

    Chen, Imin; Glebov, Gleb

    2017-01-01

    We apply the method established in our previous work to derive a Chudnovsky-Ramanujan type formula for the Legendre family of elliptic curves. As a result, we prove two identities for $1/\\pi$ in terms of hypergeometric functions.

  9. [Atypical manifestations in familial type 1 Waardenburg syndrome].

    Science.gov (United States)

    Sans, B; Calvas, P; Bazex, J

    1998-01-01

    Waardenburg syndrome is an uncommon genetic disorder. Four clinical types are recognized. Three responsible genes have been identified (PAX 3: for type I syndrome, MITF and EDN3 for types II and IV respectively). We report the case of a patient with Waardenburg type I morphotype who had atypical neurological manifestations. Decisive elements for diagnosis were the presence of Waardenburg syndrome in the family and, in affected kin, a mutation causing a shift in PAX 3 gene reading. This case confirms the variability of Waardenburg signs within one family. The association of unusual neurological manifestations in the proband suggested that Vogt Koyanagi Harada disease may have been associated and may show some relationship with familial Waardenburg syndrome.

  10. Involvement of family members in life with type 2 diabetes

    DEFF Research Database (Denmark)

    Grabowski, Dan; Andersen, Tue Helms; Varming, Annemarie

    2017-01-01

    OBJECTIVES: Family involvement plays a key role in diabetes management. Problems and challenges related to type 2-diabetes often affect the whole family, and relatives are at increased risk of developing diabetes themselves. We highlight these issues in our objectives: (1) to uncover specific...... family problems associated with mutual involvement in life with type 2-diabetes and (2) to analytically look at ways of approaching these problems in healthcare settings. METHODS: Qualitative data were gathered in participatory problem assessment workshops. The data were analysed in three rounds using...... radical hermeneutics. RESULTS: Problems were categorized in six domains: knowledge, communication, support, everyday life, roles and worries. The final cross-analysis focusing on the link between family identity and healthcare authenticity provided information on how the six domains can be approached...

  11. Hektor - an exceptional D-type family among Jovian Trojans

    Science.gov (United States)

    Rozehnal, J.; Brož, M.; Nesvorný, D.; Durda, D. D.; Walsh, K.; Richardson, D. C.; Asphaug, E.

    2016-11-01

    In this work, we analyse Jovian Trojans in the space of suitable resonant elements and we identify clusters of possible collisional origin by two independent methods: the hierarchical clustering and a so-called randombox. Compared to our previous work, we study a twice larger sample. Apart from Eurybates, Ennomos and 1996 RJ families, we have found three more clusters - namely families around asteroids (20961) Arkesilaos, (624) Hektor in the L4 libration zone and (247341) 2001 UV209 in L5. The families fulfill our stringent criteria, I.e. a high statistical significance, an albedo homogeneity and a steeper size-frequency distribution than that of background. In order to understand their nature, we simulate their long term collisional evolution with the Boulder code and dynamical evolution using a modified SWIFT integrator. Within the framework of our evolutionary model, we were able to constrain the age of the Hektor family to be either 1-4 Gyr or, less likely, 0.1-2.5 Gyr, depending on initial impact geometry. Since (624) Hektor itself seems to be a bilobed-shape body with a satellite, I.e. an exceptional object, we address its association with the D-type family and we demonstrate that the moon and family could be created during a single impact event. We simulated the cratering event using a smoothed particle hydrodynamics. This is also the first case of a family associated with a D-type parent body.

  12. What's for dinner? Types of food served at family dinner differ across parent and family characteristics.

    Science.gov (United States)

    Neumark-Sztainer, Dianne; MacLehose, Rich; Loth, Katie; Fulkerson, Jayne A; Eisenberg, Marla E; Berge, Jerica

    2014-01-01

    To examine the types of food served at family dinner in the homes of adolescents and correlations with parent and family sociodemographic characteristics, psychosocial factors and meal-specific variables. A cross-sectional population-based survey completed by mail or telephone by parents participating in Project F-EAT (Families and Eating and Activity in Teens) in 2009-2010. Homes of families with adolescents in Minneapolis/St. Paul urban area, MN, USA. Participants included 1923 parents/guardians (90·8% female; 68·5% from ethnic/racial minorities) of adolescents who participated in EAT 2010. Less than a third (28%) of parents reported serving a green salad at family dinner on a regular basis, but 70% reported regularly serving vegetables (other than potatoes). About one-fifth (21%) of families had fast food at family dinners two or more times per week. Variables from within the sociodemographic domain (low educational attainment) psychosocial domain (high work-life stress, depressive symptoms, low family functioning) and meal-specific domain (low value of family meals, low enjoyment of cooking, low meal planning, high food purchasing barriers and fewer hours in food preparation) were associated with lower healthfulness of foods served at family dinners, in analyses adjusted for sociodemographic characteristics. There is a need for interventions to improve the healthfulness of food served at family meals. Interventions need to be suitable for parents with low levels of education; take parent and family psychosocial factors into account; promote more positive attitudes toward family meals; and provide skills to make it easier to plan and prepare healthful family meals.

  13. Confirmation of novel type 1 diabetes risk loci in families

    DEFF Research Database (Denmark)

    Cooper, J D; Howson, J M M; Smyth, D

    2012-01-01

    Over 50 regions of the genome have been associated with type 1 diabetes risk, mainly using large case/control collections. In a recent genome-wide association (GWA) study, 18 novel susceptibility loci were identified and replicated, including replication evidence from 2,319 families. Here, we......, the Type 1 Diabetes Genetics Consortium (T1DGC), aimed to exclude the possibility that any of the 18 loci were false-positives due to population stratification by significantly increasing the statistical power of our family study....

  14. Understanding type 2 diabetes: including the family member's perspective.

    LENUS (Irish Health Repository)

    White, Patricia

    2012-02-01

    PURPOSE: The purpose of this study was to examine the relationship between psychological and social factors and diabetes outcomes in people with type 2 diabetes and their family members. METHODS: A total of 153 patients with type 2 diabetes were assessed at a diabetes outpatient clinic and postal questionnaires were sent to nominated family members. The measures examined were diabetes knowledge, social support, well-being, and illness perceptions. RESULTS: When compared with those with diabetes, family members reported lower positive well-being and lower levels of satisfaction with support. They also perceived diabetes as a more cyclical illness, which was controlled more by treatment than by the individual. Family members also reported that the person with diabetes was more emotionally distressed and knew more about diabetes than the patient had actually reported himself or herself. There were no differences between the family members of those in good or poor glycaemic control. CONCLUSIONS: This study reinforces the importance of understanding social context and illness beliefs in diabetes management. It also highlights the potential for including family members in discussions and education about diabetes management.

  15. Coexistence of Primary Hyperaldosteronism and Graves’ Disease, a Rare Combination of Endocrine Disorders: Is It beyond a Coincidence—A Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    S. S. C. Gunatilake

    2017-01-01

    Full Text Available Background. Primary hyperaldosteronism is a known cause for secondary hypertension. In addition to its effect on blood pressure, aldosterone exhibits proinflammatory actions and plays a role in immunomodulation/development of autoimmunity. Recent researches also suggest significant thyroid dysfunction among patients with hyperaldosteronism, but exact causal relationship is not established. Autoimmune hyperthyroidism (Graves’ disease and primary hyperaldosteronism rarely coexist but underlying mechanisms associating the two are still unclear. Case Presentation. A 32-year-old Sri Lankan female was evaluated for new onset hypertension in association with hypokalemia. She also had features of hyperthyroidism together with high TSH receptor antibodies suggestive of Graves’ disease. On evaluation of persistent hypokalemia and hypertension, primary hyperaldosteronism due to right-sided adrenal adenoma was diagnosed. She was rendered euthyroid with antithyroid drugs followed by right-sided adrenalectomy. Antithyroid drugs were continued up to 12 months, after which the patient entered remission of Graves’ disease. Conclusion. Autoimmune hyperthyroidism and primary hyperaldosteronism rarely coexist and this case report adds to the limited number of cases documented in the literature. Underlying mechanism associating the two is still unclear but possibilities of autoimmune mechanisms and autoantibodies warrant further evaluation and research.

  16. [Types of families, living conditions, functioning of family systems and social maladjustment during latency and adolescence in underprivileged milieus].

    Science.gov (United States)

    Le Blanc, M; McDuff, P; Tremblay, R E

    1991-06-01

    Available data on the impact of certain types of families is lacking, and the results are often misleading with respect to maladjustment. Following a description of variations in delinquent activity and behaviour problems according to family type, the authors analyse the difficulties in the operation of family systems. Comparisons of six family types apply to data from 763 boys aged 10, 319 female and 426 male adolescents, aged 14 and 15: intact families, father-based and mother-based single-parent families, father-based and mother-based reconstituted families and substitute families. The article's data show that in the late eighties, nearly 40 per cent of children and adolescents living in low-income districts in Montreal belonged to disunited families. In addition, the data confirm a classic observation: in comparison with intact families, disunited families are underprivileged in relation to living conditions, deficient in relation to psychosocial functioning, and propitious to behaviour problems and delinquent activity. In addition, it has been established that certain disunited family types represent a considerable risk factor. The damaging effect of family structure increases in the following order: intact families, mother-based single-parent families, mother-based reconstituted families, substitute families, father-based reconstituted families and father-based single-parent families. Finally, certain intervention methods are suggested to help prevent behaviour and family problems.

  17. Dentin dysplasia type I : Five cases within one family

    NARCIS (Netherlands)

    Kalk, WWI; Batenburg, RHK; Vissink, A

    Five cases of dentin dysplasia type I within one family are described. Clinically and radiologically, such patients are characterized by a delayed eruption pattern, opacity of the incisional margins, hypermobility of the teeth, short and defective roots, and obliterated pulp chambers. A conservative

  18. On a family of Bessel type functions: Estimations, series, overconvergence

    Science.gov (United States)

    Paneva-Konovska, Jordanka

    2017-12-01

    A family of the Bessel-Maitland functions are considered in this paper and some useful estimations are obtained for them. Series defined by means of these functions are considered and their behaviour on the boundaries of the convergence domains is discussed. Using the obtained estimations, necessary and sufficient conditions for the series overconvergence, as well as Hadamard type theorem are proposed.

  19. A Comparison of Robotic Versus Laparoscopic Adrenalectomy in Patients With Primary Hyperaldosteronism.

    Science.gov (United States)

    Colvin, Jennifer; Krishnamurthy, Vikram; Jin, Judy; Shin, Joyce; Siperstein, Allan; Berber, Eren

    2017-10-01

    Over the last decade, robotic approaches have been described for removing adrenal tumors. Although there are reports comparing robotic and laparoscopic techniques in general, there are limited data on outcomes in patients with primary hyperaldosteronism (PHA). The aim of this study is to compare the safety and efficacy of robotic adrenalectomy (RA) versus laparoscopic adrenalectomy (LA) for PHA. The records of 20 patients who underwent RA for PHA were compared with 16 patients who underwent LA between 2000 and 2014. Data were retrospectively reviewed from a prospectively maintained, IRB-approved adrenal database. Statistical analysis was performed using t test and the Fisher exact analysis. Continuous variables are reported as mean±SEM. Demographic and clinical parameters were similar between the groups. There were no conversions to open in either group. Estimated blood loss, length of stay, and complication rates were comparable. Operative time was shorter in the robotic versus laparoscopic group (130±8.94 vs. 159±11.1 min, P=0.0487). In follow-up, the improvement in patients' blood pressure after adrenalectomy, as assessed by the reduction in the number of antihypertensive medications, was similar between the 2 groups. However, 1 patient in the RA and 1 patient in the LA group were not cured, as determined by postoperative aldosterone:renin levels. The biochemical cure rate between the groups was similar (P=0.529). To our knowledge, this is the first study comparing robotic versus laparoscopic resection of PHA. Our results show that the robotic approach was similar to laparoscopic regarding safety and efficacy. Operative time was shorter with the robotic approach, which could be related to more efficient dissection with wristed instrumentation.

  20. Unilateral adrenal hyperplasia is a usual cause of primary hyperaldosteronism. Results from a Swedish screening study

    Directory of Open Access Journals (Sweden)

    Sigurjonsdottir Helga

    2012-09-01

    Full Text Available Abstract Background The existence of unilateral adrenal hyperplasia (AH has been considered a rare cause of primary hyperaldosteronism (PA. Methods In a prospective study we screened for PA in a non-selected (NSP and selected hypertensive population (SP, to define the cause of PA. We included 353 consecutive patients with hypertension; age 20 to 88 years, 165 women and 188 men, from a university-based Hypertension and Nephrology Outpatient clinics (123 SP and two primary care centres, (230 NSP from the same catch-up area. Serum aldosterone and plasma renin activity (PRA were measured and the ARR calculated. Verifying diagnostic procedure was performed in patients with both elevated aldosterone and ARR. Patients diagnosed with PA were invited for adrenal venous sampling (AVS and offered laparoscopic adrenalectomy when AVS found the disease to be unilateral. Results After screening, 46 patients, 13% of the whole population (22.8% SP and 7.8% NSP had aldosterone and ARR above the locally defined cut-off limits (0.43 nmol/l and 1.28 respectively. After diagnostic verification, 20 patients (6% had PA, (14.5% SP and 1.4% NSP. Imaging diagnostic procedures with CT-scans and scintigraphy were inconclusive. AVS, performed in 15 patients verified bilateral disease in 4 and unilateral in 10 patients. One AVS failed. After laparoscopic adrenalectomy, 4 patients were found to have adenoma and 5 unilateral AH. One patient denied operation. Conclusion The prevalence of PA was in agreement with previous studies. The study finds unilateral PA common and unilateral AH as half of those cases. As may be suspected PA is found in much higher frequency in specialised hypertensive units compared to primary care centers. AVS was mandatory in diagnosis of unilateral PA.

  1. [The child from families with type 1 diabetes].

    Science.gov (United States)

    Wasikowa, Renata; Suchańska, Dorota; Suchańska, Danuta; Basiak, Aleksander; Noczyńska, Anna; Stasińska, Teresa

    2005-01-01

    Diabetes type 1 is observed in individuals with a genetic predisposition to the disease. Observed is a 3-5 fold risk for congenital defects, therefore diabetes type 1 is one of the highest known teratogenic risk factor. The main factor responsible for the development of congenital defects is hyperglycemia. Observed are congenital defects of the central nervous system, the bones, urinary and digestive tract. Characteristic is macrosomia. Observed are hypocalcemia, hypomagnesemia, polycythemia, hyperbilirubinemia, hypertrophic cardiomyopathy, respiratory disturbances. Children from families with diabetes type 1 are at high risk for the development of the disease in the newborn period, additional diseases. They must be in permanent medical control.

  2. Primary hyperaldosteronism diagnosed with adrenal vein sampling. Characteristics and follow-up after adrenalectomy in a Danish study

    DEFF Research Database (Denmark)

    Pedersen, Maria; Karlsen, Mona Aarenstrup; Ankjærgaard, Kasper L

    2016-01-01

    BACKGROUND: Primary hyperaldosteronism (PA), known as Mb Conn, is one of the most common forms of secondary hypertension in middle-aged adults. High plasma aldosterone has been associated with severe organ damage. The unilateral aldosterone-producing adenoma (lateralized disease) is a subtype of PA...... had higher blood pressure (BP) and lower serum potassium compared to patients with bilateral hyperplasia. No difference regarding age and gender distribution was detected. Despite lateralized disease diagnosed from AVS, the medical images were normal in 10 patients (28%). Follow-up of 30 patients who...

  3. A Japanese Family With Autosomal Dominant Oculocutaneous Albinism Type 4.

    Science.gov (United States)

    Oki, Ryoko; Yamada, Kisaburo; Nakano, Satoko; Kimoto, Kenichi; Yamamoto, Ken; Kondo, Hiroyuki; Kubota, Toshiaki

    2017-02-01

    We report the clinical characteristics of a Japanese family with autosomal dominant oculocutaneous albinism and a SLC45A2 gene mutation. A total of 16 members of a Japanese family with general hypopigmentation and foveal hypoplasia underwent detailed clinical examinations. We evaluated the severity of foveal hypoplasia using spectral-domain optical coherence tomography (SD-OCT) and graded it according to the criteria of Thomas et al. DNA was extracted from 17 family members and used for genome-wide single nucleotide polymorphism genotyping and linkage analysis. Mutational search was performed for the SLC45A2 gene responsible for oculocutaneous albinism type 4 (OCA4). All 16 patients exhibited hypopigmentation of their hair and/or iris. They showed foveal hypoplasia, including 3 patients with grade 1 foveal hypoplasia, 7 with grade 2, and 6 with grade 3. No patient had grade 4 foveal hypoplasia. Optical coherence tomography showed macular ganglion cell complex thinning in the temporal area, and a slight reduction of visual field sensitivity in the centrotemporal area. A maximum multipoint parametric logarithm of the odds (LOD) score of approximately 2.00 to 3.56 was obtained on chromosome 5, spanning approximately 7.2 Mb between rs13187570 and rs395967 that included the SLC45A2 gene. All affected members showed a novel heterozygous variant, c.208T>C (p.Y70H), in the SLC45A2 gene, which supported a diagnosis of OCA4. The present study reports a very rare family with autosomal dominant OCA4 whose diagnosis was confirmed by a mutational analysis. Most family members exhibited mild general hypopigmentation and low-grade foveal hypoplasia.

  4. The relationship between parental depressive symptoms, family type and adolescent functioning

    NARCIS (Netherlands)

    Sieh, D.S.; Visser-Meily, J.M.A.; Meijer, A.M.

    2013-01-01

    It is evident that parental depressive symptoms negatively influence adolescent behavior and various psychosocial outcomes. Certain family types like families with a chronically ill parent and single parent families are more vulnerable to parental depressive symptoms. However, the relationship

  5. Types of work-family interface: well-being correlates of negative and positive spillover between work and family

    NARCIS (Netherlands)

    Kinnunen, U.; Feldt, T.; Geurts, S.A.E.; Pulkkinen, L.

    2006-01-01

    The aim of the present study was to test the structure of the work-family interface measure, which was intended to take into account both the positive and negative spillover between work and family demands in both directions. In addition, the links among the types of work-family spillover and the

  6. [Family physician attitudes towards insulinization in type II diabetics].

    Science.gov (United States)

    Díaz-Rodríguez, M I; Sánchez-Morales, M C; Aceña-Gutiérrez, M T; Carrasco-Flores, J; Villarín-Castro, A

    2014-04-01

    To determine the attitudes of Toledo Health Area family physicians about starting insulinization in type 2 diabetic patients. Descriptive, cross-sectional study. A self-completed questionnaire was given to 353 family physicians of the Toledo Health Area, asking about socio-demographic and occupational data, and including the Spanish version of the Diabetes Attitude Scale (DAS-3sp) questionnaire to evaluate attitudes and motivations related to diabetes. A total of 66 responses were received, of which 50.8% were from females. Mean age (±standard deviation) was 49.97±7.40. Results of the different DAS-3sp subscales (values from 1 to 5) were: S1 (need for special training): 4.52±0.38; S2 (seriousness of type2 diabetes): 4.18±0.42; S3 (value of tight control): 4.15±0.39; S4 (psychosocial impact of diabetes): 3.79±0.48; and S5 (need for patient autonomy): 3.72±0.55. No statistically significant differences were obtained with the four first subscales with sex, specialized training, being a resident tutor, type of contract or clinical setting. There were statistically significant differences in S5 compared with sex (3.90±0,60 in men vs 3.54±0.45 in women; t=2.701; P=.009) and with being a resident tutor (3.99±0.58 vs 3.64±0.52 in non-tutors; t=2.188; P=.033). The attitudes regarding starting insulin treatment in type2 diabetic patients are positives among Toledo Health Area family physicians, specially in the clinical aspects, but they are lower in the psychosocial impact and patient autonomy. Copyright © 2013 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España. All rights reserved.

  7. Mediation of Family Alcoholism Risk by Religious Affiliation Types*

    Science.gov (United States)

    Haber, Jon Randolph; Jacob, Theodore

    2009-01-01

    Objective: Religious affiliation is inversely associated with alcohol dependence (AD). Our previous findings indicated that when a religious affiliation differentiated itself from cultural norms, then high-risk adolescents (those having parents with alcoholism history) raised with these affiliations exhibited fewer AD symptoms compared with adolescents of other religious affiliations and nonreligious adolescents. The first of two studies reported here provides a needed replication of our previous findings for childhood religious affiliation using a different sample, and the second study extends examination to current religious affiliation. Method: A national sample of male and female adolescents/young adults (N = 1,329; mean age = 19.6 years) was selected who were the offspring of members of the Vietnam Era Twin Registry. Parental alcoholism, religious affiliation types, and their interactions were examined as predictors of offspring AD symptoms. Results: (1) Offspring reared with a differentiating religious affiliation during childhood exhibited significantly fewer AD symptoms as young adults; (2) offspring with current differentiating religious affiliation also exhibited fewer AD symptoms; this main effect was not weakened by adding other measures of religiousness to the model; (3) differentiating religious affiliation was correlated with both family alcoholism risk and offspring outcome, and removed the association between family alcoholism risk and offspring outcome, thus indicating that differentiating religious affiliation was at least a partial mediator of the association between family AD history risk and offspring AD outcome. Conclusions: Current results indicate that religious differentiation is an inverse mediator of alcoholism risk for offspring with or without parental AD history and regardless of the influence of other religion variables. Results replicated our previous report on religious upbringing between ages 6 and 13 years and indicated an even

  8. Spinocerebellar ataxia type 7: Report of an Indian family

    Directory of Open Access Journals (Sweden)

    Gurusidheshwar M Wali

    2013-01-01

    Full Text Available Spinocerebellar ataxia type 7 (SCA7 is a form of autosomal dominant cerebellar ataxia which is associated with pigmentary retinal degeneration. It is known for its world-wide rarity except in the Scandinavian countries. It is very rarely reported from India and the neighbouring Asian countries . The present report describes the neurogenetic findings of a family of SCA7, from the northern part of Karnataka in South India. It documents the wide intrafamilial phenotypic variability, which could be correlated with the CAG repeat counts and phenomenon of anticipation. Genotype phenotype correlation highlighted certain disparities in comparison with the previous studies. The report highlights the need for multiethnic population studies and the role of genetic counseling and prenatal testing in SCA7 patients.

  9. The impact of migration on family solidarity types

    NARCIS (Netherlands)

    Baykara-Krumme, H.; Fokkema, T.

    2017-01-01

    This paper aims to expand knowledge on the effects of international migration on parent-adult child relationships. We develop a typology of families, include non-migrant families in the country of origin for comparison, and consider transnational families. Analyses are based on the Turkish 2000

  10. Types of work-family interface: well-being correlates of negative and positive spillover between work and family.

    Science.gov (United States)

    Kinnunen, Ulla; Feldt, Taru; Geurts, Sabine; Pulkkinen, Lea

    2006-04-01

    The aim of the present study was to test the structure of the work-family interface measure, which was intended to take into account both the positive and negative spillover between work and family demands in both directions. In addition, the links among the types of work-family spillover and the subjects' general and domain-specific well-being were examined. The sample (n = 202) consisted of Finnish employees, aged 42, who had a spouse/partner. Confirmatory factor analyses indicated that a four-factor model, including negative work-to-family spillover, negative family-to-work spillover, positive work-to-family spillover, and positive family-to-work spillover, was superior compared to the other factor models examined. Path analysis showed, as hypothesized, that the negative work-to-family spillover was most strongly related to low well-being at work (job exhaustion) and next strongly to low general well-being (psychological distress), whereas the negative family-to-work spillover was associated with low well-being in the domain of family (marital dissatisfaction). Positive work-to-family spillover was positively related both to well-being at work and general well-being. Inconsistent with our expectations, positive family-to-work spillover was not directly related to any of the well-being indicators examined.

  11. Family types and intimate-partner violence: A historical perspective

    OpenAIRE

    Ana Tur-Prats

    2015-01-01

    This paper examines the historical origins of violence against women, in contrast to earlier literature, which focused only on short-term determinants. It analyses the relationship between traditional family patterns (stem versus nuclear) and intimate-partner violence (IPV). Stem families are those in which one child stays in the parental household with spouse and children, so that at least two generations live together. I model the behavior of a traditional peasant family and show how coresi...

  12. Genotype–phenotype study of familial haemophagocytic lymphohistiocytosis type 3

    Science.gov (United States)

    Sieni, Elena; Cetica, Valentina; Santoro, Alessandra; Beutel, Karin; Mastrodicasa, Elena; Meeths, Marie; Ciambotti, Benedetta; Brugnolo, Francesca; zur Stadt, Udo; Pende, Daniela; Moretta, Lorenzo; Griffiths, Gillian M; Henter, Jan-Inge; Janka, Gritta; Aricò, Maurizio

    2014-01-01

    Background Mutations of UNC13D are causative for familial haemophagocytic lymphohistiocytosis type 3 (FHL3; OMIM 608898). Objective To carry out a genotype–phenotype study of patients with FHL3. Methods A consortium of three countries pooled data on presenting features and mutations from individual patients with biallelic UNC13D mutations in a common database. Results 84 patients with FHL3 (median age 4.1 months) were reported from Florence, Italy (n=54), Hamburg, Germany (n=18), Stockholm, Sweden (n=12). Their ethnic origin was Caucasian (n=57), Turkish (n=10), Asian (n=7), Hispanic (n=4), African (n=3) (not reported (n=3)). Thrombocytopenia was present in 94%, splenomegaly in 96%, fever in 89%. The central nervous system (CNS) was involved in 49/81 (60%) patients versus 36% in patients with FHL2 (p=0.001). A combination of fever, splenomegaly, thrombocytopenia and hyperferritinaemia was present in 71%. CD107a expression, NK activity and Munc 13-4 protein expression were absent or reduced in all but one of the evaluated patients. 54 different mutations were observed, including 15 new ones: 19 missense, 14 deletions or insertions, 12 nonsense, nine splice errors. None was specific for ethnic groups. Patients with two disruptive mutations were younger than patients with two missense mutations (p<0.001), but older than comparable patients with FHL2 (p=0.001). Conclusion UNC13D mutations are scattered over the gene. Ethnic-specific mutations were not identified. CNS involvement is more common than in FHL2; in patients with FHL3 and disruptive mutations, age at diagnosis is significantly higher than in FHL2. The combination of fever, splenomegaly, thrombocytopenia and hyperferritinaemia appears to be the most easily and frequently recognised clinical pattern and their association with defective granule release assay may herald FHL3. PMID:21248318

  13. Analysis of adrenocortical hyperplasia by computed tomography in patients with Cushing's disease, idiopathic hyperaldosteronism and adrenogenital syndrome

    International Nuclear Information System (INIS)

    Komiya, Ichiro; Ohara, Noriko; Nagasawa, Yoshitaka; Asawa, Takayuki; Hashizume, Kiyoshi; Takasu, Nobuyuki; Yamada, Takashi.

    1994-01-01

    We assessed the usefulness and reliability of computed tomography (CT scan) in evaluating adrenal hyperplasia in 38 patients, including 14 with Cushing's disease, 17 with idiopathic hyperaldosteronism (IHA), and 7 with the adrenogenital syndrome (AGS). Eighty-two normal subjects were also examined. We analyzed the shape of the adrenal gland and quantitated its thickness, width and length. Visual inspection revealed V-shaped right adrenal glands in 100% of patients with Cushing's disease, 94% of patients with IHA, 100% of patients with AGS and in 41% of the normal subjects. Triangular left adrenal glands were observed in 100% of patients with Cushing's disease, 82% of patients with IHA, 67% of patients with AGS and in 12% of the normal subjects. Quantitative analysis showed that the right adrenal gland was significantly thicker and longer in patients with Cushing's disease, IHA and in those with AGS than in normal subjects. The right adrenal gland was significantly wider in the patients with Cushing's disease and AGS than in control subjects. The left adrenal gland was significantly wider and longer in patients with Cushing's disease and AGS than in the normal controls. Analysis of individual data indicated that the upper limit of normal for thickness of the right adrenal was 7 mm. Therefore, adrenal hyperplasia was strongly suggested when the right adrenal gland was more than 7 mm thick. Our findings suggest that the CT scan is useful and reliable in diagnosing adrenal hyperplasia. (author)

  14. Family and Friends: Which Types of Personal Relationships Go Together in a Network?

    Science.gov (United States)

    Rözer, Jesper; Mollenhorst, Gerald; Poortman, Anne-Rigt

    We examine the link between family and personal networks. Using arguments about meeting opportunities, competition and social influence, we hypothesise how the presence of specific types of family members (i.e., a partner, children, parents and siblings) and non-family members (i.e., friends, neighbours and colleagues) in the network mutually affect one another. In addition, we propose that-beyond their mere presence-the active role of family members in the network strongly affects the presence of non-family members in the network. Data from the third wave of the Survey on the Social Networks of the Dutch, collected in 2012 and 2013, show that active involvement is of key importance; more than merely having family members present in one's personal network, the active involvement of specific types of family members in the personal network is associated with having disproportionally more other family members and having somewhat fewer non-family members in the network.

  15. What’s for dinner? Types of food served at family dinner differ across parent and family characteristics

    Science.gov (United States)

    Neumark-Sztainer, Dianne; MacLehose, Rich; Loth, Katie; Fulkerson, Jayne A.; Eisenberg, Marla E.; Berge, Jerica

    2013-01-01

    Objective To examine the types of food served at family dinner in the homes of adolescents and correlations with parent and family sociodemographic characteristics, psychosocial factors, and meal-specific variables. Design A cross-sectional population-based survey completed by mail or telephone by parents participating in Project F-EAT (Families and Eating and Activity in Teens) in 2009–2010. Setting Homes of families with adolescents in Minneapolis/St Paul urban area. Subjects Participants included 1,923 parents/guardians (90.8% female; 68.5% from ethnic/racial minorities) of adolescents who participated in EAT 2010. Results Less than a third (28%) of parents reported serving a green salad at family dinner on a regular basis, but 70% reported regularly serving vegetables (other than potatoes). About one-fifth (21%) of families had fast food at family dinners two or more times a week. Variables from within the sociodemographic domain (low educational attainment); psychosocial domain (high work-life stress, depressive symptoms, low family functioning); and meal-specific domain (low value of family meals, low enjoyment of cooking, low meal planning, high food purchasing barriers, and fewer hours in food preparation) were associated with lower healthfulness of foods served at family dinners, in analyses adjusted for sociodemographic characteristics. Conclusions There is a need for interventions to improve the healthfulness of food served at family meals. Interventions need to be suitable for parents with low levels of education; take parent and family psychosocial factors into account; promote more positive attitudes toward family meals; and provide skills to make it easier to plan and prepare healthful family meals. PMID:23083836

  16. Early Family System Types Predict Children's Emotional Attention Biases at School Age

    Science.gov (United States)

    Lindblom, Jallu; Peltola, Mikko J.; Vänskä, Mervi; Hietanen, Jari K.; Laakso, Anu; Tiitinen, Aila; Tulppala, Maija; Punamäki, Raija-Leena

    2017-01-01

    The family environment shapes children's social information processing and emotion regulation. Yet, the long-term effects of early family systems have rarely been studied. This study investigated how family system types predict children's attentional biases toward facial expressions at the age of 10 years. The participants were 79 children from…

  17. Searching for the Kinkeepers: Historian Gender, Age, and Type 2 Diabetes Family History

    Science.gov (United States)

    Giordimaina, Alicia M.; Sheldon, Jane P.; Kiedrowski, Lesli A.; Jayaratne, Toby Epstein

    2015-01-01

    Kinkeepers facilitate family communication and may be key to family medical history collection and dissemination. Middle-aged women are frequently kinkeepers. Using type 2 diabetes (T2DM) as a model, we explored whether the predicted gender and age effects of kinkeeping can be extended to family medical historians. Through a U.S. telephone survey,…

  18. The concurrent and longitudinal effects of child disability types and health on family experiences.

    Science.gov (United States)

    Wei, Xin; Yu, Jennifer W

    2012-01-01

    This study examines the concurrent and longitudinal effects of children's disability types and health on family experiences, namely, parent divorce, mother's unemployment, and receipt of social welfare. The parent and school staff survey data for 1999 and 2004 from the Special Education Elementary Longitudinal Study were analyzed, when the ages of children with disabilities ranged from 6 to 17. Weighted logistic regressions using Taylor Series Linearization were used to model the concurrent associations and longitudinal association between children's disability types and health and family experiences. Models were adjusted to account for other children in the family with disabilities, sociodemographic characteristics, and other family experiences variables. Family experiences varied significantly by disability type in 1999. Compared with families of children with learning disabilities, parents of children with emotional disturbances were 81% more likely to get divorced, and 2.5 times more likely to receive welfare from 1999 to 2004. Mothers of children with a secondary disability were 81% more likely to be unemployed than those of children without a secondary disability. These findings indicate that specific disability types in children have an influence on family experience, and that some of those influences may persist over time. Families of children with emotional disturbances appear to be particularly at risk for negative family experiences. Clinicians, educators, and policymakers should be aware of the complex needs of families of children with disabilities when considering the types of services and supports provided to both children with disabilities and their families.

  19. The relationship between parental depressive symptoms, family type, and adolescent functioning.

    Science.gov (United States)

    Sieh, Dominik Sebastian; Sieh, Dominik Sebstian; Visser-Meily, Johanna Maria Augusta; Meijer, Anne Marie

    2013-01-01

    It is evident that parental depressive symptoms negatively influence adolescent behavior and various psychosocial outcomes. Certain family types like families with a chronically ill parent and single parent families are more vulnerable to parental depressive symptoms. However, the relationship between these symptoms, family type, and adolescent functioning remains largely unclear. This study examined relations between self-report of parental depressive symptoms and adolescent functioning in 86 two-parent families including a parent with a chronic medical condition, 94 families with healthy single parents, and 69 families with 2 healthy parents (comparison group). Parents completed the Beck Depression Inventory. Adolescents filled in the Youth Self-Report measuring problem behavior, and other instruments measuring psychosocial outcomes (stress, grade point average, school problems, and self-esteem). Multilevel analyses were used to examine the effects of family type, parental depressive symptoms, adolescents' gender and age, and interaction effects on adolescent functioning. The results indicated that adolescents with chronically ill and single parents had a lower grade point average (pfamily types. Parental depressive symptoms were strongly related to child report of stress (pfamily with 2 parents may have less impact on adolescent problem behavior than growing up in a single parent family. Health practitioners are encouraged to be attentive to the unique and combined influence of family type and parental depressive symptoms on adolescent functioning. Older and female adolescents deserve particular attention.

  20. Genomic evolution of 11 type strains within family Planctomycetaceae.

    Directory of Open Access Journals (Sweden)

    Min Guo

    Full Text Available The species in family Planctomycetaceae are ideal groups for investigating the origin of eukaryotes. Their cells are divided by a lipidic intracytoplasmic membrane and they share a number of eukaryote-like molecular characteristics. However, their genomic structures, potential abilities, and evolutionary status are still unknown. In this study, we searched for common protein families and a core genome/pan genome based on 11 sequenced species in family Planctomycetaceae. Then, we constructed phylogenetic tree based on their 832 common protein families. We also annotated the 11 genomes using the Clusters of Orthologous Groups database. Moreover, we predicted and reconstructed their core/pan metabolic pathways using the KEGG (Kyoto Encyclopedia of Genes and Genomes orthology system. Subsequently, we identified genomic islands (GIs and structural variations (SVs among the five complete genomes and we specifically investigated the integration of two Planctomycetaceae plasmids in all 11 genomes. The results indicate that Planctomycetaceae species share diverse genomic variations and unique genomic characteristics, as well as have huge potential for human applications.

  1. Tension type headaches: a review | Magazi | South African Family ...

    African Journals Online (AJOL)

    South African Family Practice. Journal Home · ABOUT THIS JOURNAL · Advanced Search · Current Issue · Archives · Journal Home > Vol 57, No 1 (2015) >. Log in or Register to get access to full text downloads. Username, Password, Remember me, or Register · Download this PDF file. The PDF file you selected should ...

  2. Clinical characteristics of aldosterone-producing microadenoma, macroadenoma, and idiopathic hyperaldosteronism in 93 patients with primary aldosteronism.

    Science.gov (United States)

    Omura, Masao; Sasano, Hironobu; Saito, Jun; Yamaguchi, Kunio; Kakuta, Yukio; Nishikawa, Tetsuo

    2006-11-01

    Primary aldosteronism (PA) due to aldosterone-producing adenoma (APA) is a form of surgically curable secondary hypertension, and distinguishing APA from idiopathic hyperaldosteronism (IHA) is important for treatment. We made a differential diagnosis between APA and IHA using imaging tests such as adrenal CT and MRI as well as adrenal venous sampling (AVS) in all 93 cases of PA presenting at our institutions over the last decade. We identified 27 patients with aldosterone-producing microadenoma (APmicroA), all of whom could be diagnosed by AVS but not by the imaging tests. Then, we compared the clinical and roent-genological findings of these 27 patients with those of 42 patients with aldosterone-producing macroadenoma (APmacroA) and of 24 patients with IHA. Using surgically removed adrenal tissues, histopathological examinations and immunohistochemical analyses of steroidogenic enzymes were conducted. The findings for APmicroA were similar to those for APmacroA, except with respect to the diameter of the adrenal adenomas. Endocrinological and roentgenological findings for APmicroA were similar to those for IHA, but not to those for APmacroA. The rate of cure of hypertension was much greater in patients with APmicroA than in patients with APmacroA after the unilateral adrenalectomy (odds ratio, 4.0; p=0.028). In conclusion, it is important to accurately diagnose APmicroA, in which the laterality of the hyperproduction of aldosterone is only detectable by AVS, and to treat these patients by unilateral adrenalectomy in order to avoid long-term medical treatment and prevent hypertensive vascular complications.

  3. Prevalence of a positive family history of type 2 diabetes in women with polycystic ovarian disease.

    Science.gov (United States)

    Fox, R

    1999-12-01

    The known association between insulin resistance and polycystic ovarian disease (PCOD) has been studied by determination of the prevalence of a positive family history of diabetes in a consecutive series of oligomenorrheic women with polycystic ovaries and eumenorrheic women with normal ovaries who served as controls. A significantly greater proportion of the families of the patients with PCOD had at least one member affected by type 2 diabetes (39.1% of the PCOD group and 7.6% of the controls; p PCOD had an increased prevalence of type 2 diabetes within their families. Paternal and maternal family members affected were in similar proportions, there being no evidence of preferential transmission through the female line in this study. The increased prevalence of type 2 diabetes in the families of women with polycystic ovaries is further evidence for the association between PCOD and insulin resistance, and provides a possible explanation for the familial nature of the ovarian disorder.

  4. Validation of a model of family caregiver communication types and related caregiver outcomes.

    Science.gov (United States)

    Wittenberg, Elaine; Kravits, Kate; Goldsmith, Joy; Ferrell, Betty; Fujinami, Rebecca

    2017-02-01

    Caring for the family is included as one of the eight domains of quality palliative care, calling attention to the importance of the family system and family communications about cancer during care and treatment of the disease. Previously, a model of family caregiver communication defined four caregiver communication types-Manager, Carrier, Partner, Lone-each with a unique communication pattern. The purpose of the present study was to extend the model of family caregiver communication in cancer care to further understand the impact of family communication burden on caregiving outcomes. This mixed-method study employed fieldnotes from a family caregiver intervention focused on quality of life and self-reported caregiver communication items to identify a specific family caregiver type. Caregiver types were then analyzed using outcome measures on psychological distress, skills preparedness, family inventory of needs, and quality-of-life domains. Corroboration between fieldnotes and self-reported communication for caregivers (n = 21, 16 women, mean age of 53 years) revealed a definitive classification of the four caregiver types (Manager = 6, Carrier = 5, Partner = 6, Lone = 4). Mean scores on self-reported communication items documented different communication patterns congruent with the theoretical framework of the model. Variation in caregiver outcomes measures confirmed the model of family caregiver communication types. Partner and Lone caregivers reported the lowest psychological distress, with Carrier caregivers feeling least prepared and Manager caregivers reporting the lowest physical quality of life. This study illustrates the impact of family communication on caregiving and increases our knowledge and understanding about the role of communication in caregiver burden. The research provides the first evidence-based validation for a family caregiver communication typology and its relationship to caregiver outcomes. Future research is needed to develop and test

  5. Psychological adjustment of Yoruba adolescents as influenced by family type: a research note.

    Science.gov (United States)

    Oyefeso, A O; Adegoke, A R

    1992-05-01

    This research examines the influence of family type on the psychological adjustment of Yoruba adolescents. Using a sample of 116 adolescents, 69 males and 47 females, with mean age of 17.8 years of age (S.D. = 1.72), the results reveal that male adolescents from monogamous families experience better psychological adjustment than their polygynous counterparts, whereas no such difference exists in the levels of psychological adjustment of female adolescents from both family types. These findings suggest that (i) sex-role prescription influences psychological adjustment of adolescents in Yoruba societies, and (ii) female children enjoy more protective upbringing in polygynous families than their male counterparts.

  6. Family-Work Conflict and Type-E Personality as Stress Inducers in Married Female Nigerian University Administrators

    Science.gov (United States)

    Shobola, A. A.; Nwoha, P. C.

    2013-01-01

    This piece of article is culled from a larger study. The study investigated the relationship between family-work conflict, Type-E personality and stress in married female Nigerian University Administrators. The study adopted ex-post facto design. The sample consisted of 800 female administrators in the senior cadre of executive/administrative…

  7. The relationship between parental depressive symptoms, family type, and adolescent functioning.

    Directory of Open Access Journals (Sweden)

    Dominik Sebastian Sieh

    Full Text Available It is evident that parental depressive symptoms negatively influence adolescent behavior and various psychosocial outcomes. Certain family types like families with a chronically ill parent and single parent families are more vulnerable to parental depressive symptoms. However, the relationship between these symptoms, family type, and adolescent functioning remains largely unclear. This study examined relations between self-report of parental depressive symptoms and adolescent functioning in 86 two-parent families including a parent with a chronic medical condition, 94 families with healthy single parents, and 69 families with 2 healthy parents (comparison group. Parents completed the Beck Depression Inventory. Adolescents filled in the Youth Self-Report measuring problem behavior, and other instruments measuring psychosocial outcomes (stress, grade point average, school problems, and self-esteem. Multilevel analyses were used to examine the effects of family type, parental depressive symptoms, adolescents' gender and age, and interaction effects on adolescent functioning. The results indicated that adolescents with chronically ill and single parents had a lower grade point average (p<.01 than the comparison group. Adolescents of single parents reported more internalizing problems (p<.01 and externalizing problems (p<.05 than children from the other family types. Parental depressive symptoms were strongly related to child report of stress (p<.001. Adolescents of depressed chronically ill parents were particularly vulnerable to internalizing problems (interaction effect, p<.05. Older children and girls, and especially older girls, displayed more internalizing problems and stress. It can be concluded that growing up with a chronically ill parent in a family with 2 parents may have less impact on adolescent problem behavior than growing up in a single parent family. Health practitioners are encouraged to be attentive to the unique and combined

  8. Cultural and family challenges to managing type 2 diabetes in immigrant Chinese Americans.

    Science.gov (United States)

    Chesla, Catherine A; Chun, Kevin M; Kwan, Christine M L

    2009-10-01

    Although Asians demonstrate elevated levels of type 2 diabetes, little attention has been directed to their unique cultural beliefs and practices regarding diabetes. We describe cultural and family challenges to illness management in foreign-born Chinese American patients with type 2 diabetes and their spouses. This was an interpretive comparative interview study with 20 foreign-born Chinese American couples (n = 40) living with type 2 diabetes. Multiple (six to seven) semistructured interviews with each couple in individual, group, and couple settings elicited beliefs about diabetes and narratives of care within the family and community. Interpretive narrative and thematic analysis were completed. A separate respondent group of 19 patients and spouses who met the inclusion criteria reviewed and confirmed the themes developed from the initial couples. Cultural and family challenges to diabetes management within foreign-born Chinese American families included how 1) diabetes symptoms challenged family harmony, 2) dietary prescriptions challenged food beliefs and practices, and 3) disease management requirements challenged established family role responsibilities. Culturally nuanced care with immigrant Chinese Americans requires attentiveness to the social context of disease management. Patients' and families' disease management decisions are seldom made independent of their concerns for family well-being, family face, and the reciprocal responsibilities required by varied family roles. Framing disease recommendations to include cultural concerns for balance and significant food rituals are warranted.

  9. Substantial proportion of MODY among multiplex families participating in a Type 1 diabetes prediction programme.

    Science.gov (United States)

    Petruzelkova, L; Dusatkova, P; Cinek, O; Sumnik, Z; Pruhova, S; Hradsky, O; Vcelakova, J; Lebl, J; Kolouskova, S

    2016-12-01

    Patients with maturity-onset diabetes of the young (MODY) might be over-represented in families with histories of Type 1 diabetes. Our aim was to re-evaluate families participating in the Czech T1D Prediction Programme (PREDIA.CZ) with at least two members affected with diabetes to assess the proportion of MODY among these families and determine its most significant clinical predictors. Of the 557 families followed up by the PREDIA.CZ, 53 (9.5%) had two or more family members with diabetes. One proband with diabetes from these families was chosen for direct sequencing of the GCK, HNF1A, HNF4A and INS genes. Non-parametric tests and a linear logistic regression model were used to evaluate differences between MODY and non-MODY families. MODY was genetically diagnosed in 24 of the 53 families with multiple occurrences of diabetes (45%). Mutations were detected most frequently in GCK (58%), followed by HNF1A (38%) and INS (4%). MODY families were more likely to have a parent with diabetes and had a higher proportion of females with diabetes than non-MODY families. Higher age (P MODY families already presenting with diabetes. A prediction programme for Type 1 diabetes would provide a useful new source of patients with MODY most likely to benefit from an accurate diagnosis. This identification has implications for patient treatment and disease prognosis. © 2015 Diabetes UK.

  10. Family Care Responsibilities and Employment: Exploring the Impact of Type of Family Care on Work-Family and Family-Work Conflict

    Science.gov (United States)

    Stewart, Lisa M.

    2013-01-01

    This study compared work-family and family-work conflict for employed family caregivers with disability-related care responsibilities in contrast to employed family caregivers with typical care responsibilities. Using data from the 2002 National Study of the Changing Workforce, a population-based survey of the U.S. workforce, formal and informal…

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

    Science.gov (United States)

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

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

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

    Science.gov (United States)

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

    2016-01-01

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

  13. Protein homology network families reveal step-wise diversification of Type III and Type IV secretion systems.

    Directory of Open Access Journals (Sweden)

    Duccio Medini

    2006-12-01

    Full Text Available From the analysis of 251 prokaryotic genomes stored in public databases, the 761,260 deduced proteins were used to reconstruct a complete set of bacterial proteic families. Using the new Overlap algorithm, we have partitioned the Protein Homology Network (PHN, where the proteins are the nodes and the links represent homology relationships. The algorithm identifies the densely connected regions of the PHN that define the families of homologous proteins, here called PHN-Families, recognizing the phylogenetic relationships embedded in the network. By direct comparison with a manually curated dataset, we assessed that this classification algorithm generates data of quality similar to a human expert. Then, we explored the network to identify families involved in the assembly of Type III and Type IV secretion systems (T3SS and T4SS. We noticed that, beside a core of conserved functions (eight proteins for T3SS, seven for T4SS, a variable set of accessory components is always present (one to nine for T3SS, one to five for T4SS. Each member of the core corresponds to a single PHN-Family, while accessory proteins are distributed among different pure families. The PHN-Family classification suggests that T3SS and T4SS have been assembled through a step-wise, discontinuous process, by complementing the conserved core with subgroups of nonconserved proteins. Such genetic modules, independently recruited and probably tuned on specific effectors, contribute to the functional specialization of these organelles to different microenvironments.

  14. Explaining Couple Cohesion in Different Types of Gay Families

    Science.gov (United States)

    van Eeden-Moorefield, Brad; Pasley, Kay; Crosbie-Burnett, Margaret; King, Erin

    2012-01-01

    This Internet-based study used data from a convenience sample of 176 gay men in current partnerships to examine differences in outness, cohesion, and relationship quality between three types of gay male couples: first cohabiting partnerships, repartnerships, and gay stepfamilies. Also, we tested whether relationship quality mediated the link…

  15. Relationship between family support and quality of life of type-2 ...

    African Journals Online (AJOL)

    Materials and Methods: A cross-sectional study of 250 adult patients with type 2 diabetes mellitus was carried out over twenty (20) weeks. Respondents' family support was measured using Perceived Social Support – Family Scale {PSS- Fa}, while their quality of life was measured using the short version of the World Health ...

  16. Coexistent Charcot-Marie-Tooth type 1A and type 2 diabetes mellitus neuropathies in a Chinese family

    Directory of Open Access Journals (Sweden)

    A-ping Sun

    2015-01-01

    Full Text Available Charcot-Marie-Tooth disease type 1A (CMT1A is caused by duplication of the peripheral myelin protein 22 (PMP22 gene on chromosome 17. It is the most common inherited demyelinating neuropathy. Type 2 diabetes mellitus is a common metabolic disorder that frequently causes predominantly sensory neuropathy. In this study, we report the occurrence of CMT1A in a Chinese family affected by type 2 diabetes mellitus. In this family, seven individuals had duplication of the PMP22 gene, although only four had clinical features of polyneuropathy. All CMT1A patients with a clinical phenotype also presented with type 2 diabetes mellitus. The other three individuals had no signs of CMT1A or type 2 diabetes mellitus. We believe that there may be a genetic link between these two diseases.

  17. Association Between Familial Hypercholesterolemia and Prevalence of Type 2 Diabetes Mellitus

    NARCIS (Netherlands)

    Besseling, Joost; Kastelein, John J. P.; Defesche, Joep C.; Hutten, Barbara A.; Hovingh, G. Kees

    2015-01-01

    IMPORTANCE Familial hypercholesterolemia is characterized by impaired uptake of cholesterol in peripheral tissues, including the liver and the pancreas. In contrast, statins increase the cellular cholesterol uptake and are associated with increased risk for type 2 diabetes mellitus. We hypothesize

  18. Association between Cognitive Distortion, Type D Personality, Family Environment, and Depression in Chinese Adolescents

    OpenAIRE

    Zhang, Yong; Li, Hengfen; Zou, Shaohong

    2011-01-01

    Purpose. Depression prevalence and risk increase among adolescents are related to biological, psychosocial, and cultural factors. Little is known about the association between cognitive distortion, type D personality, family environment, and depression. The aim of this paper was to examine the relationships of cognitive distortion, type D personality, family environment, and depression in a sample of Chinese adolescents. Methods. A sample of Chinese adolescents with depression and the con...

  19. Distinct Gene Expression Signatures in Lynch Syndrome and Familial Colorectal Cancer Type X

    DEFF Research Database (Denmark)

    Valentin, Mev; Therkildsen, Christina; Veerla, Srinivas

    2013-01-01

    Heredity is estimated to cause at least 20% of colorectal cancer. The hereditary nonpolyposis colorectal cancer subset is divided into Lynch syndrome and familial colorectal cancer type X (FCCTX) based on presence of mismatch repair (MMR) gene defects.......Heredity is estimated to cause at least 20% of colorectal cancer. The hereditary nonpolyposis colorectal cancer subset is divided into Lynch syndrome and familial colorectal cancer type X (FCCTX) based on presence of mismatch repair (MMR) gene defects....

  20. Renal dysfunction and barttin expression in Bartter syndrome Type IV associated with a G47R mutation in BSND in a family.

    Science.gov (United States)

    Park, C W; Lim, J H; Youn, D-Y; Chung, S; Lim, M-H; Kim, Y K; Chang, Y S; Lee, J-H

    2011-02-01

    Bartter syndrome (BS) Type IV, associated with a G47R mutation in the BSND gene, is known to result in a mild renal phenotype. However, we report here on three brothers with varying degrees of renal dysfunction from mild to end-stage renal disease associated with renal barttin and ClC-K expression. The brothers had histories of polyhydramnios, prematurity, polyuria, deafness, and small body size. Laboratory findings showed hypokalemic metabolic alkalosis, normotensive hyperreninemic hyperaldosteronism, and an increased urinary excretion of sodium, potassium and chloride, consistent with BS Type IV. Microscopic examination of renal tissue showed hyperplasia of cells at the juxtaglomerular apparatus with dilated atrophic tubules and tubulointerstitial fibrosis. A weak barttin signal related to CIC-K expression in the cytoplasm of tubule cells, but not the basement membrane, was noted. A sequence analysis of the BSND gene showed that the affected males were homozygous for a missense G47R mutation in exon 1 of BSND. These findings suggest that the G47R mutation results in a dramatic decrease in barttin expression, which appears to be related to the location of CIC-K being changed from the basement membrane to the cytoplasm in the tubule and might have varying effects on renal function associated with factors other than this gene.

  1. INTERETHNIC DIFFERENCES OF YOUNG FAMILY NEEDS IN VARIOUS TYPES OF HELP

    Directory of Open Access Journals (Sweden)

    Tatiana Vladimirovna Anafjanova

    2013-08-01

    Full Text Available Various types of young family needs noted by the author are studied in the article: a need for parents’ help, state support, medical and social services.It is established that needs for medical and social help initially predominate in the structure of requirements of ethnic cohorts of young families both in cities and countryside, increasing according to the period and duration of marriage of a family.Ethnic differences of young family needs are revealed in all studied cohorts in the structure of the less significant types of assistance – parents’ help and state support, undoubtedly, due to the differences in reproductive activity of young ethnic families depending on the area of residence.DOI: http://dx.doi.org/10.12731/2218-7405-2013-8-2

  2. Supportive and non-supportive interactions in families with a type 2 diabetes patient

    DEFF Research Database (Denmark)

    Bennich, Birgitte B; Røder, Michael E; Overgaard, Dorthe

    2017-01-01

    changes and diabetes self-management. The purpose of this integrative review was to summarise and assess published studies on the intra-family perspective of supportive and non-supportive interactions in families with a type 2 diabetes patient. METHODS: Included in the review were published qualitative......BACKGROUND: Type 2 diabetes and its management affect the patient and the close family potentially causing either psychological distress or increased sense of responsibility and collaboration in these families. Interactions between patient and family play an important role in maintaining lifestyle...... of reference lists. Quality assessment, data extraction and analysis were undertaken on all included studies. RESULTS: We identified five eligible research papers. Employing content analysis three categories describing interactions were refined: Impact of practical action, impact of emotional involvement...

  3. Hadron component in families observed with the Mt. Fuji thick type emulsion chamber

    International Nuclear Information System (INIS)

    Konishi, Eiichi

    1978-01-01

    Analysis of hadron component was made on the families detected with the thick type emulsion chamber exposed at Mt. Fuji. The thickness of the emulsion chamber was 70 c.u of Pb. The collecting power was 17 m 2 year. The character of hadrons in the families and their correlations with accompanying gamma-rays are shown. The energy spectra of ten families with number of gamma-ray not less than 5, gamma energy sum not less than 20 TeV and number of Pb jet not less than 5 minimum energy = 2 TeV, and their lateral distribution were investigated. These thick type emulsion chamber data are useful for the analysis of gamma-ray families observed by the thin type emulsion chamber. (Yoshimori, M.)

  4. The role of family nutritional support in Japanese patients with type 2 diabetes mellitus.

    Science.gov (United States)

    Watanabe, Koin; Kurose, Takeshi; Kitatani, Naomi; Yabe, Daisuke; Hishizawa, Masahiro; Hyo, Takanori; Seino, Yutaka

    2010-01-01

    We investigated the role of family support in glycemic control by nutritional self-care behavior of Japanese patients with type 2 diabetes. One hundred twelve Japanese out-patients with type 2 diabetes were recruited for the study at Kansai Electric Power Hospital. Interviews were conducted and HbA1c and triglyceride levels were measured. HbA1c levels were significantly related to family nutritional support. Patients under 60 years old with family nutritional support showed significantly lower HbA1c than patients without family support (p1 week) showed similar outcomes in glycemic control. Patients who appreciate the support and follow the advice showed lower HbA1c (6.88 +/- 0.22%) than (7.43 +/- 0.23%) patients who appreciate the advice but sometimes feel emotional barriers. Family nutritional support is useful in improving metabolic outcome of diabetic patients. Self-care practice in disease management should be carefully adjusted to the family setting of type 2 diabetic patients. Emotional barriers to family support may affect the metabolic consequences, especially in the Japanese elderly.

  5. Association between Cognitive Distortion, Type D Personality, Family Environment, and Depression in Chinese Adolescents

    Directory of Open Access Journals (Sweden)

    Yong Zhang

    2011-01-01

    Full Text Available Purpose. Depression prevalence and risk increase among adolescents are related to biological, psychosocial, and cultural factors. Little is known about the association between cognitive distortion, type D personality, family environment, and depression. The aim of this paper was to examine the relationships of cognitive distortion, type D personality, family environment, and depression in a sample of Chinese adolescents. Methods. A sample of Chinese adolescents with depression and the controls were investigated cross-sectionally with life orientation test-revised (LOT-R, type D personality Scale-14 (DS14, family environment scale (FES, and Zung self-depression scale (SDS; respectively, all scales were administered in Chinese. Results. Chinese-depressed adolescents showed more cognitive distortion, type D personality, and adverse family environment than control groups. Furthermore, lower level of Optimism, negative affectivity, and poor family cohesion may increase the risk of depression in Chinese adolescents. Conclusions. Our study indicates that lower level of Optimism, Negative Affectivity, and poor Family Cohesion factors were implicated to contribute to depression in Chinese adolescents. Lower level of optimism and negative affectivity may be crucial associated factors of depression among these samples. our findings pointed to the importance of broad screening and intervention of vulnerable population.

  6. Two families from New England with usher syndrome type IC with distinct haplotypes.

    Science.gov (United States)

    DeAngelis, M M; McGee, T L; Keats, B J; Slim, R; Berson, E L; Dryja, T P

    2001-03-01

    To search for patients with Usher syndrome type IC among those with Usher syndrome type I who reside in New England. Genotype analysis of microsatellite markers closely linked to the USH1C locus was done using the polymerase chain reaction. We compared the haplotype of our patients who were homozygous in the USH1C region with the haplotypes found in previously reported USH1C Acadian families who reside in southwestern Louisiana and from a single family residing in Lebanon. Of 46 unrelated cases of Usher syndrome type I residing in New England, two were homozygous at genetic markers in the USH1C region. Of these, one carried the Acadian USH1C haplotype and had Acadian ancestors (that is, from Nova Scotia) who did not participate in the 1755 migration of Acadians to Louisiana. The second family had a haplotype that proved to be the same as that of a family with USH1C residing in Lebanon. Each of the two families had haplotypes distinct from the other. This is the first report that some patients residing in New England have Usher syndrome type IC. Patients with Usher syndrome type IC can have the Acadian haplotype or the Lebanese haplotype compatible with the idea that at least two independently arising pathogenic mutations have occurred in the yet-to-be identified USH1C gene.

  7. [The medical social aspects of childhood traumatism accounting the family type].

    Science.gov (United States)

    2012-01-01

    In the Russian Federation the childhood traumatism is considered as one of progressing social dangers. The interest in studying the impact of family type on childhood morbidity formation is increased during last years. The family is a fundamental principle of mechanisms of public health formation. The questionnaire poll of parents of children suffered from traumas provides the data concerning the medical social risk factors impacting the level of childhood traumatism. The one of the most important prevention measures is the impact on the family.

  8. Genetic Heterogeneity of Usher Syndrome: Analysis of 151 Families with Usher Type I

    OpenAIRE

    Astuto, Lisa M.; Weston, Michael D.; Carney, Carol A.; Hoover, Denise M.; Cremers, Cor W.R.J.; Wagenaar, Mariette; Moller, Claes; Smith, Richard J.H.; Pieke-Dahl, Sandra; Greenberg, Jacquie; Ramesar, Raj; Jacobson, Samuel G.; Ayuso, Carmen; Heckenlively, John R.; Tamayo, Marta

    2000-01-01

    Usher syndrome type I is an autosomal recessive disorder marked by hearing loss, vestibular areflexia, and retinitis pigmentosa. Six Usher I genetic subtypes at loci USH1A–USH1F have been reported. The MYO7A gene is responsible for USH1B, the most common subtype. In our analysis, 151 families with Usher I were screened by linkage and mutation analysis. MYO7A mutations were identified in 64 families with Usher I. Of the remaining 87 families, who were negative for MYO7A mutations, 54 were info...

  9. Family history of type 2 diabetes and prevalence of metabolic syndrome in adult Asian Indians.

    Science.gov (United States)

    Das, Mithun; Pal, Susil; Ghosh, Arnab

    2012-04-01

    Our objective was to test the association between familial risk of type 2 diabetes mellitus (T2DM) and the prevalence of metabolic syndrome (MS) in adult Asian Indians. A total of 448 adult (>30 years) individuals (257 males and 191 females) participated in the study. Familial risk of T2DM was classified into three groups viz., 1=both parents affected; 2=parent and/or siblings affected and 3=none or no family history for T2DM. Anthropometric measures, blood pressures, fasting blood glucose and metabolic profiles were studied using standard techniques. MS was defined accordingly. The prevalence of MS phenotypes was estimated and compared among the three familial risk strata. Individuals with a history of both parents affected from diabetes had significantly higher (Pfamily history of T2DM. Significant difference was also noticed between individuals with and without MS according to the family history of diabetes (Pfamily history of T2DM. Family history of T2DM had significant effect on individuals with MS as compared to their counterparts (individuals having no family history of T2DM). It therefore seems reasonable to argue that family history of T2DM could be useful as a predictive tool for early diagnosis and prevention of MS in Asian Indian population.

  10. Parathyroid mitogenic activity in plasma from patients with familial multiple endocrine neoplasia type 1

    International Nuclear Information System (INIS)

    Brandi, M.L.; Aurbach, G.D.; Fitzpatrick, L.A.; Quarto, R.; Spiegel, A.M.; Bliziotes, M.M.; Norton, J.A.; Doppman, J.L.; Marx, S.J.

    1986-01-01

    Hyperplasia of the parathyroid glands is a central feature of familial multiple endocrine neoplasia type 1. We used cultured bovine parathyroid cells to test for mitogenic activity in plasma from patients with this disorder. Normal plasma stimulated [ 3 H]thymidine incorporation, on the average, to the same extent as it was stimulated in a plasma-free control culture. This contrasted with the results of the tests with plasma from patients with familial multiple endocrine neoplasia type 1, in which parathyroid mitogenic activity increased 2400 percent over the control value (P less than 0.001). Plasma from these patients also stimulated the proliferation of bovine parathyroid cells in culture, whereas plasma from normal subjects inhibited it. Parathyroid mitogenic activity in plasma from the patients with familial multiple endocrine neoplasia type 1 was greater than that in plasma from patients with various other disorders, including sporadic primary hyperparathyroidism (with adenoma, hyperplasia, or cancer of the parathyroid), sporadic primary hypergastrinemia, sporadic pituitary tumor, familial hypocalciuric hypercalcemia, and multiple endocrine neoplasia type 2 (P less than 0.05). Parathyroid mitogenic activity in the plasma of patients with familial multiple endocrine neoplasia type 1 persisted for up to four years after total parathyroidectomy. The plasma also had far more mitogenic activity in cultures of parathyroid cells than did optimal concentrations of known growth factors or of any parathyroid secretagogue. This mitogenic activity had an apparent molecular weight of 50,000 to 55,000. We conclude that primary hyperparathyroidism in familial multiple endocrine neoplasia type 1 may have a humoral cause

  11. Nephrocalcinosis as adult presentation of Bartter syndrome type II.

    Science.gov (United States)

    Huang, L; Luiken, G P M; van Riemsdijk, I C; Petrij, F; Zandbergen, A A M; Dees, A

    2014-02-01

    Bartter syndrome consists a group of rare autosomal-recessive renal tubulopathies characterised by renal salt wasting, hypokalaemic metabolic alkalosis, hypercalciuria and hyperreninaemic hyperaldosteronism. It is classified into five types. Mutations in the KCNJ1 gene (classified as type II) usually cause the neonatal form of Bartter syndrome. We describe an adult patient with a homozygous KCNJ1 mutation resulting in a remarkably mild phenotype of neonatal type Bartter syndrome.

  12. Genetic analysis of a Chinese family with members affected with Usher syndrome type II and Waardenburg syndrome type IV.

    Science.gov (United States)

    Wang, Xueling; Lin, Xiao-Jiang; Tang, Xiangrong; Chai, Yong-Chuan; Yu, De-Hong; Chen, Dong-Ye; Wu, Hao

    2017-11-01

    The purpose of this study was to identify the genetic causes of a family presenting with multiple symptoms overlapping Usher syndrome type II (USH2) and Waardenburg syndrome type IV (WS4). Targeted next-generation sequencing including the exon and flanking intron sequences of 79 deafness genes was performed on the proband. Co-segregation of the disease phenotype and the detected variants were confirmed in all family members by PCR amplification and Sanger sequencing. The affected members of this family had two different recessive disorders, USH2 and WS4. By targeted next-generation sequencing, we identified that USH2 was caused by a novel missense mutation, p.V4907D in GPR98; whereas WS4 due to p.V185M in EDNRB. This is the first report of homozygous p.V185M mutation in EDNRB in patient with WS4. This study reported a Chinese family with multiple independent and overlapping phenotypes. In condition, molecular level analysis was efficient to identify the causative variant p.V4907D in GPR98 and p.V185M in EDNRB, also was helpful to confirm the clinical diagnosis of USH2 and WS4. Copyright © 2017 Elsevier B.V. All rights reserved.

  13. Are family factors universally related to metabolic outcomes in adolescents with Type 1 diabetes?

    DEFF Research Database (Denmark)

    Cameron, F.J.; Skinner, T.C.; Beaufort, C.E. de

    2008-01-01

    -parent disagreement on responsibility for diabetes care practices (F = 8.46; d.f. = 2; P gender or insulin treatment regimen......Aims To assess the importance of family factors in determining metabolic outcomes in adolescents with Type 1 diabetes in 19 countries. Methods Adolescents with Type 1 diabetes aged 11-18 years, from 21 paediatric diabetes care centres, in 19 countries, and their parents were invited to participate...... a questionnaire. Family demographic factors that were associated with metabolic outcomes included: parents living together (t = 4.1; P 2; d.f. = 3; P diabetes care (r = 0.11; P

  14. 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.

  15. A novel mutation in PAX3 associated with Waardenburg syndrome type I in a Chinese family.

    Science.gov (United States)

    Xiao, Yun; Luo, Jianfen; Zhang, Fengguo; Li, Jianfeng; Han, Yuechen; Zhang, Daogong; Wang, Mingming; Ma, Yalin; Xu, Lei; Bai, Xiaohui; Wang, Haibo

    2016-01-01

    The novel compound heterozygous mutation in PAX3 was the key genetic reason for WS1 in this family, which was useful to the molecular diagnosis of WS1. Screening the pathogenic mutations in a four generation Chinese family with Waardenburg syndrome type I (WS1). WS1 was diagnosed in a 4-year-old boy according to the Waardenburg syndrome Consortium criteria. The detailed family history revealed four affected members in the family. Routine clinical, audiological examination, and ophthalmologic evaluation were performed on four affected and 10 healthy members in this family. The genetic analysis was conducted, including the targeted next-generation sequencing of 127 known deafness genes combined with Sanger sequencing, TA clone and bioinformatic analysis. A novel compound heterozygous mutation c.[169_170insC;172_174delAAG] (p.His57ProfsX55) was identified in PAX3, which was co-segregated with WS1 in the Chinese family. This mutation was absent in the unaffected family members and 200 ethnicity-matched controls. The phylogenetic analysis and three-dimensional (3D) modeling of Pax3 protein further confirmed that the novel compound heterozygous mutation was pathogenic.

  16. Parenting Practices and Child Adjustment in Different Types of Households: A Study of African American Families

    Science.gov (United States)

    Simons, Leslie Gordon; Chen, Yi-Fu; Simons, Ronald L.; Brody, Gene; Cutrona, Carolyn

    2006-01-01

    This article uses a sample of 867 African American households to investigate differences in parenting practices and child outcomes by type of household. Results indicate that mothers provide similar levels of parenting regardless of family structure. Secondary caregivers, however, show a great deal of variation in quality of parenting. Fathers and…

  17. Diabetes care provider perceptions on family challenges of pediatric type 1 diabetes

    Science.gov (United States)

    Pediatric healthcare providers' perspectives on barriers to diabetes self-management among youth with type 1 diabetes and strategies to overcome them were explored qualitatively. Family conflict about diabetes care was viewed as a common problem, addressable by behavioral interventions to improve co...

  18. Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family.

    Science.gov (United States)

    Gasparini, P; De Fazio, A; Croce, A I; Stanziale, P; Zelante, L

    1998-08-01

    We report an Italian family affected by Usher type III syndrome. Linkage study, performed using markers corresponding to the Usher loci already mapped, clearly showed linkage with markers on chromosome 3q24-25. Our data further support the presence of an Usher III locus on chromosome 3, as recently reported in a Finnish population.

  19. Usher syndrome type III (USH3) linked to chromosome 3q in an Italian family.

    OpenAIRE

    Gasparini, P; De Fazio, A; Croce, A I; Stanziale, P; Zelante, L

    1998-01-01

    We report an Italian family affected by Usher type III syndrome. Linkage study, performed using markers corresponding to the Usher loci already mapped, clearly showed linkage with markers on chromosome 3q24-25. Our data further support the presence of an Usher III locus on chromosome 3, as recently reported in a Finnish population.

  20. Young Children's Sibling Relationship Interactional Types: Associations with Family Characteristics, Parenting, and Child Characteristics

    Science.gov (United States)

    Gamble, Wendy C.; Yu, Jeong Jin

    2014-01-01

    Research Findings: This study examines patterns of sibling relationship qualities or interactional types and their association with family characteristics, parenting, and the characteristics of 1 of those children. Participants were 65 children (34 boys; Time 1 mean age = 51 months), their mothers, fathers, and Head Start teachers. Approximately…

  1. A Müntz type theorem for a family of corner cutting schemes

    KAUST Repository

    Ait-Haddou, Rachid; Sakane, Yusuke; Nomura, Taishin

    2013-01-01

    Dimension elevation process of Gelfond–Bézier curves generates a family of control polygons obtained through a sequence of corner cuttings. We give a Müntz type condition for the convergence of the generated control polygons to the underlying curve

  2. Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families

    Science.gov (United States)

    Wang, Li; Qin, Litao; Li, Tao; Liu, Hongjian; Ma, Lingcao; Li, Wan; Wu, Dong; Wang, Hongdan; Guo, Qiannan; Guo, Liangjie; Liao, Shixiu

    2018-01-01

    Waardenburg syndrome (WS) is an auditory-pigmentary disorder with varying combinations of sensorineural hearing loss and abnormal pigmentation. The present study aimed to investigate the underlying molecular pathology and provide a method of prenatal diagnosis of WS in Chinese families. A total of 11 patients with WS from five unrelated Chinese families were enrolled. A thorough clinical examination was performed on all participants. Furthermore, patients with WS underwent screening for mutations in the following genes: Paired box 3 (PAX3), melanogenesis associated transcription factor (MITF), SRY-box 10, snail family transcriptional repressor 2 and endothelin receptor type B using polymerase chain reaction sequencing. Array-based comparative genomic hybridization was used for specific patients whose sequence results were normal. Following identification of the genotype of the probands and their parents, prenatal genetic diagnosis was performed for family 01 and 05. According to the diagnostic criteria for WS, five cases were diagnosed as WS1, while the other six cases were WS2. Genetic analysis revealed three mutations, including a nonsense mutation PAX3 c.583C>T in family 01, a splice-site mutation MITF c.909G>A in family 03 and an in-frame deletion MITF c.649_651delGAA in family 05. To the best of the authors' knowledge the mutations (c.583C>T in PAX3 and c.909G>A in MITF) were reported for the first time in Chinese people. Mutations in the gene of interest were not identified in family 02 and 04. The prenatal genetic testing of the two fetuses was carried out and demonstrated that the two babies were normal. The results of the present study expanded the range of known genetic mutations in China. Identification of genetic mutations in these families provided an efficient way to understand the causes of WS and improved genetic counseling. PMID:29115496

  3. Influence of family type and parenting behaviours on teenage sexual behaviour and conceptions.

    Science.gov (United States)

    Bonell, C; Allen, E; Strange, V; Oakley, A; Copas, A; Johnson, A; Stephenson, J

    2006-06-01

    Longitudinal data were used to explore relations between teenage pregnancy, sexual behaviour, and family type. The study examined whether students from lone parent and/or teenage mother initiated families more commonly report sex, lack of contraception at first sex, and/or conceptions by age 15/16, and whether such associations can be explained by low parental strictness, difficult parent-child communication, and/or low parental input into sex education. Up to date longitudinal UK research on family influences on conceptions is lacking, as is longitudinal research on family influences on sexual behaviour. No previous studies have comprehensively examined effects of parenting behaviours. Unlike previous research, this study tested theories suggesting that parenting deficits among lone parent and teenage initiated families increase risk of teenage pregnancy among their children. Secondary analysis of data from a trial of sex education. Girls and boys from lone parent families or having mothers who were teenagers when they were born were more likely to report sex but not lack of contraception at first sex by age 15/16. Girls and boys with mothers having them as teenagers, and boys but not girls from lone parent families, were more likely to report being involved in conceptions by age 15/16. Only the association between teenage mother family and girls' conceptions was reduced by adjusting for a parenting behaviour measure. Students from lone parent families or having mothers who were teenagers when they were born are more likely to report early sexual debut and conceptions by age 15/16, but this is not generally explained by parenting style.

  4. [Association between type 2 diabetes and physical activity in individuals with family history of diabetes].

    Science.gov (United States)

    Petermann, Fanny; Díaz-Martínez, Ximena; Garrido-Méndez, Álex; Leiva, Ana María; Martínez, María Adela; Salas, Carlos; Poblete-Valderrama, Felipe; Celis-Morales, Carlos

    To investigate whether the association between type 2 diabetes (T2D) and family history of diabetes is modified by the levels of physical activity in the Chilean population. In this study were included 5129 participants from the cross-sectional 2009-2010 National Health Survey. Physical activity level was assessed using the Global Physical Activity Questionnaire and family history of T2D, through self-reporting. The association between diabetes, family history of diabetes and physical activity was determined using logistic regression. The odds of developing T2D in people with family history of this pathology is high, independent of their levels of physical activity and adiposity. Both men and women with family history of T2D have a higher probability of developing T2D. The odds ratio for having T2D was 5,49 (95%CI: 3,85-7,84; p <0,0001) in women, and 8,16 (95%CI: 4,96-13,4; p <0,0001) in men with family history of T2D and low levels of physical activity in comparison to those with high levels of physical activity and without a family history. Given the elevated risk of developing T2D presented by individuals with a family history of this pathology, and the effect of physical activity in reducing such risk, people with family history of diabetes may need higher levels of physical activity to attenuate their susceptibility to T2D. Copyright © 2017 SESPAS. Publicado por Elsevier España, S.L.U. All rights reserved.

  5. Significance of family and peer support for metabolic control of type 1 diabetes in adolescents

    Directory of Open Access Journals (Sweden)

    Đurović Dušanka

    2009-01-01

    Full Text Available The aim of the paper was to explore the significance of family and peer support for metabolic control of Type 1 diabetes in adolescents. Metabolic control refers to maintenance of acceptable blood glucose level thus diminishing risk for chronic complications. It involves regular insulin shots, measuring blood glucose and keeping diary, as the daily based self-control. Regular visits to endocrinologist and screening for chronic complications are compulsory. The sample comprised 79 adolescents age 10-17 years with diagnose of Type 1 diabetes and properly treated at the institute. The sample was divided in two groups - with good (N=40 and poor (N=39 metabolic control. A criterium for good metabolic control was glycosilated hemoglobin less than 7,6%. Social support was measured by Social Support Scale consisting of two parts - the first for estimation of registered family support (based upon modified Perceived Social Support Family Scale and the second for estimation of registered friends' support (modified Perceived Social Support Friend Scale. Adolescents with good metabolic control referred statistically more significant social support in the family, unlike the group with poor metabolic control. Considering peer social support, there was no statistically significant difference. Positive family history for diabetes also appeared to be directly linked to good metabolic control.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1996-10-16

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

  7. 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.

  8. Disentangling the roles of parental monitoring and family conflict in adolescents' management of type 1 diabetes.

    Science.gov (United States)

    Hilliard, Marisa E; Holmes, Clarissa S; Chen, Rusan; Maher, Kathryn; Robinson, Elizabeth; Streisand, Randi

    2013-04-01

    Less parental monitoring of adolescents' diabetes self-care and more family conflict are each associated with poorer diabetes outcomes. However, little is known about how these two family factors relate with one another in the context of self-care and glycemic control. Diabetes self-care was evaluated as a mediator of the associations among parental monitoring, family conflict, and glycemic control in early adolescents with type 1 diabetes. Adolescent-parent dyads (n = 257) reported on the frequency of parental monitoring, family conflict, and diabetes self-care. Hemoglobin A1c was abstracted from medical charts. Structural equation modeling was used for mediation analysis. A mediation model linking parental involvement and family conflict with A1c through diabetes self-care fit the data well. Monitoring and conflict were inversely correlated (β = -0.23, p Conflict also was positively associated with higher A1c (β = 0.31, p conflict and less parental monitoring are risk factors for poorer glycemic control, and diabetes self-care is one mediator linking these variables. Interventions to promote parental monitoring of diabetes management during early adolescence may benefit from emphasizing strategies to prevent or reduce family conflict. 2013 APA, all rights reserved

  9. Familial disseminated plaque type porokeratosis with multiple horns and squamous cell carcinoma involving anal skin

    Directory of Open Access Journals (Sweden)

    Sarma Nilendu

    2009-01-01

    Full Text Available Porokeratosis is a disorder of keratinization showing a well-defined lesion with a hyperkeratotic ridge on the border that contains the coronoid lamella. We report familial (autosomal dominant with reduced penetrance disseminated plaque type (Mibelli′s type porokeratosis in a father and son. In the father, there were multiple horns and a large squamous cell carcinoma in a large lesion over the perianal region that reached up to the squamo-columnar junction of the anal mucosa and even invaded the anal sphincteric muscles. Disseminated lesions of the Mibelli′s type, development of horns, and malignancy in this unusual location have not been previously reported.

  10. Prevention of Type 2 diabetes after gestational diabetes directed at the family context

    DEFF Research Database (Denmark)

    Kragelund Nielsen, K; Grunnet, L Groth; Maindal, H Terkildsen

    2018-01-01

    In this review, we aim to summarize knowledge about gestational diabetes (GDM) after delivery; with special focus on the potential of preventing Type 2 diabetes in a family context. The review expands on the key messages from a symposium held in Copenhagen in May 2017 and highlights avenues...... and implemented in real-world settings. Although interlinked and interacting, barriers to maintaining a healthy lifestyle post-partum can be grouped into those pertaining to diabetes beliefs, the family context and the healthcare system. Health literacy level and perceptions of health and disease risk may modify...

  11. Characteristics of the Danish families with multiple endocrine neoplasia type 1

    DEFF Research Database (Denmark)

    Jäger, Anne Charlotte; Friis-Hansen, Lennart; Hansen, Thomas v.O.

    2006-01-01

    Multiple endocrine neoplasia type 1 (MEN1) is caused by autosomal dominantly inherited mutations in the MEN1 gene. Here, we report 25 MEN1 mutations - of which 12 are novel - found in 36 Danish families with MEN1 or variant MEN1 disease. Furthermore, one FIHP family was found to have an earlier...... reported mutation. The mutations were predominantly found in exons 9 and 10 encoding the C-terminal part of menin. Seven of the mutations were missense mutations, changing conserved residues. Furthermore screening of 93 out of 153 consecutive patients with primary hyperparathyroidism (pHPT) identified five...... mutation carriers. Two of these belonged to known MEN1 families, whereas the only MEN1-related disease in the other three was pHPT. Screening of 96 consecutive patients with fore-/midgut endocrine tumours revealed five mutation carries out of 28 patients with sporadic gastrinomas, whereas no mutations were...

  12. Educating families from ethnic minorities in type 1 diabetes-experiences from a Danish intervention study

    DEFF Research Database (Denmark)

    Povlsen, Lene; Olsen, Birthe; Ladelund, Steen

    2004-01-01

    focusing on immigrant families with children with type 1 diabetes is described. The intervention included the development of adapted educational material and guidelines, and a subsequent re-education of children, adolescents and parents from 37 families. The study demonstrated that it was possible......Ethnic minorities may constitute vulnerable groups within Western health care systems as their ability to master severe chronic diseases could be affected by barriers such as different culture and health/illness beliefs, communication problems and limited educational background. An intervention...... to improve health outcome. During the study, the knowledge of diabetes increased, but with considerable differences between the families. HbA(1c) also decreased significantly during the intervention, but increased during follow-up. The paper discusses possible explanations and suggestions for optimising...

  13. [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.

  14. 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.

  15. Compound heterozygous MYO7A mutations segregating Usher syndrome type 2 in a Han family.

    Science.gov (United States)

    Zong, Ling; Chen, Kaitian; Wu, Xuan; Liu, Min; Jiang, Hongyan

    2016-11-01

    Identification of rare deafness genes for inherited congenital sensorineural hearing impairment remains difficult, because a large variety of genes are implicated. In this study we applied targeted capture and next-generation sequencing to uncover the underlying gene in a three-generation Han family segregating recessive inherited hearing loss and retinitis pigmentosa. After excluding mutations in common deafness genes GJB2, SLC26A4 and the mitochondrial gene, genomic DNA of the proband of a Han family was subjected to targeted next-generation sequencing. The candidate mutations were confirmed by Sanger sequencing and subsequently analyzed with in silico tools. An unreported splice site mutation c.3924+1G > C compound with c.6028G > A in the MYO7A gene were detected to cosegregate with the phenotype in this pedigree. Both mutations, located in the evolutionarily conserved FERM domain in myosin VIIA, were predicted to be pathogenic. In this family, profound sensorineural hearing impairment and retinitis pigmentosa without vestibular disorder, constituted the typical Usher syndrome type 2. Identification of novel mutation in compound heterozygosity in MYO7A gene revealed the genetic origin of Usher syndrome type 2 in this Han family. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  16. Comparison of children's self-reports of depressive symptoms among different family interaction types in northern Taiwan

    Directory of Open Access Journals (Sweden)

    Yen Lee-Lan

    2007-06-01

    Full Text Available Abstract Background Previous research has shown that family interactions are associated with depressive symptoms in children. However, detailed classifications of family interaction types have not been studied thoroughly. This study aims to understand the types of family interactions children experience and to identify the specific types of family interactions that are associated with a higher risk of depressive symptoms in children. Methods Data used in the study was collected as part of the Child and Adolescent Behavior in Long term Evolution (CABLE project in 2003. CABLE is a longitudinal cohort study that commenced in 2001 and collects data annually from children in Taipei city and Hsinchu county in northern Taiwan. The data analyzed in this study was that obtained from the sixth graders (aged 11 to 12 years old in 2003. Of the 2,449 sixth graders, 51.2% were boys and 48.8% were girls. Factor analysis and cluster analysis were used to investigate the types of family interactions. One way ANOVA was used to establish the relationship between family interaction types and children's self-reports of depressive symptoms. Results Based on the results of factor analysis, the latent factors for family interactions included supporting activities, psychological control, parental discipline, behavioral supervision, and family conflict. After conducting cluster analysis using factor scores, four types of family interactions were revealed: supervised (29.66%, disciplined (13.56%, nurtured (40.96% and conflict (15.82%. Children from the disciplined or conflict families were more likely to report depressive symptoms. Children from the nurtured families were least likely to report depressive symptoms. Conclusion Family interactions can be classified into four different types, which are related to children's self-reports of depressive symptoms. The creation of a family interaction environment that is beneficial for children's mental health is an important

  17. Impact of type 1 diabetes mellitus on the family is reduced with the medical home, care coordination, and family-centered care.

    Science.gov (United States)

    Katz, Michelle L; Laffel, Lori M; Perrin, James M; Kuhlthau, Karen

    2012-05-01

    To examine whether the medical home, care coordination, or family-centered care was associated with less impact of type 1 diabetes mellitus (T1D) on families' work, finances, time, and school attendance. With the 2005 to 2006 National Survey of Children with Special Health Care Needs, we compared impact in children with T1D (n = 583) with that in children with other special health care needs (n = 39 944) and children without special health care needs (n = 4945). We modeled the associations of the medical home, care coordination, and family-centered care with family impact in T1D. Seventy-five percent of families of children with T1D reported a major impact compared with 45% of families of children with special health care needs (P families of children without special health care needs (P families of children with T1D, 35% reported restricting work, 38% reported financial impact, 41% reported medical expenses >$1000/year, 24% reported spending ≥11 hours/week caring or coordination care, and 20% reported ≥11 school absences/year. The medical home, care coordination, and family-centered care were associated with less work and financial impact. In childhood T1D, most families experience major impact. Better systems of health care delivery may help families reduce some of this impact. Copyright © 2012 Mosby, Inc. All rights reserved.

  18. A Müntz type theorem for a family of corner cutting schemes

    KAUST Repository

    Ait-Haddou, Rachid

    2013-02-01

    Dimension elevation process of Gelfond–Bézier curves generates a family of control polygons obtained through a sequence of corner cuttings. We give a Müntz type condition for the convergence of the generated control polygons to the underlying curve. The surprising emergence of the Müntz condition in the problem raises the question of a possible connection between the density questions of nested Chebyshev spaces and the convergence of the corresponding dimension elevation algorithms.

  19. Type-II generalized family-wise error rate formulas with application to sample size determination.

    Science.gov (United States)

    Delorme, Phillipe; de Micheaux, Pierre Lafaye; Liquet, Benoit; Riou, Jérémie

    2016-07-20

    Multiple endpoints are increasingly used in clinical trials. The significance of some of these clinical trials is established if at least r null hypotheses are rejected among m that are simultaneously tested. The usual approach in multiple hypothesis testing is to control the family-wise error rate, which is defined as the probability that at least one type-I error is made. More recently, the q-generalized family-wise error rate has been introduced to control the probability of making at least q false rejections. For procedures controlling this global type-I error rate, we define a type-II r-generalized family-wise error rate, which is directly related to the r-power defined as the probability of rejecting at least r false null hypotheses. We obtain very general power formulas that can be used to compute the sample size for single-step and step-wise procedures. These are implemented in our R package rPowerSampleSize available on the CRAN, making them directly available to end users. Complexities of the formulas are presented to gain insight into computation time issues. Comparison with Monte Carlo strategy is also presented. We compute sample sizes for two clinical trials involving multiple endpoints: one designed to investigate the effectiveness of a drug against acute heart failure and the other for the immunogenicity of a vaccine strategy against pneumococcus. Copyright © 2016 John Wiley & Sons, Ltd. Copyright © 2016 John Wiley & Sons, Ltd.

  20. A PAX3 polymorphism (T315K) in a family exhibiting Waardenburg Syndrome type 2.

    Science.gov (United States)

    Wang, C; Kim, E; Attaie, A; Smith, T N; Wilcox, E R; Lalwani, A K

    1998-02-01

    Waardenburg Syndrome (WS) is an autosomal-dominant disorder phenotypically characterized by sensorineural hearing loss and pigmentary disturbances. Presence of dystopia canthorum is indicative of WS type 1 and results from defects in the PAX3 gene, whereas normally located medial canthi is characteristic of type 2 WS (WS2) and is associated with defects in the microphthalmia-associated transcription factor (MIFT) gene. Here a neutral polymorphism is reported in the PAX3 gene (T315K) in a family with WS2. Copyright 1998 Academic Press Limited

  1. Types of strain among family members of individuals with autism spectrum disorder across the lifespan.

    Science.gov (United States)

    Shivers, Carolyn M; Krizova, Katarina; Lee, Gloria K

    2017-09-01

    Although increased caregiver strain is often found among family caregivers of individuals with autism spectrum disorder, it is still unclear as to how different types of strain relate to amount and types of caregiving across the lifespan. The present study examined different types of strain (i.e. subjective internalized strain, subjective externalized strain, and objective strain) and how such strain relates to the amount of caregiving responsibilities. Data was collected via online survey from a sample of 193 family caregivers of individuals with ASD from the United States, Canada, and the Republic of Ireland. Participants completed measures of strain and caregiving responsibilities, as well as coping, demographics, and services needed and received by the individual with ASD. Caregivers reported higher levels of objective strain than subjective, and caregiving responsibility was related to objective and subjective internalized strain. Coping style was strongly correlated with all types of strain, and unmet service needs were significantly related to objective and subjective internalized strain. Caregiving behaviors were only related to objective strain. The present results indicate that, although caregiving responsibility is related to objective and subjective internalized strain, the relationship is perhaps not as strong as the relationship between coping mechanisms and strain. Future research is needed to understand different types of strain and develop strategies to help caregivers. Copyright © 2017 Elsevier Ltd. All rights reserved.

  2. Three cases of Waardenburg syndrome type 2 in a Korean family.

    Science.gov (United States)

    Choi, Joong Hyuk; Moon, Sung-Kyun; Lee, Ki Hwang; Lew, Ho Min; Chang, Yoon-Hee

    2004-12-01

    Waardenburg syndrome (WS) is a rare, autosomal dominant disorder characterized by sensorineural hearing loss, pigmentary disturbances of the skin, hair, and iris, and other developmental defects such as lateral displacement of both medial canthi and lacrimal puncta called dystopia canthorum. While mutations of the PAX3 (paired box) gene have been identified in about 99% of WS type 1 cases, WS type 2 is a heterogeneous group, with about 15% of cases caused by mutations in microphthalmia associated transcription factor (MITF). We have experienced three cases of typical WS type 2 in a Korean family, for whom full ocular examination and genetic studies were performed. The genetic studies revealed no mutation in either PAX3 or MITF genes. The genetic basis, as yet unknown for most cases of WS type 2, might be found with further investigation.

  3. [PAX3 gene mutation analysis for two Waardenburg syndrome typefamilies and their prenatal diagnosis].

    Science.gov (United States)

    Bai, Y; Liu, N; Kong, X D; Yan, J; Qin, Z B; Wang, B

    2016-12-07

    Objective: To analyze the mutations of PAX3 gene in two Waardenburg syndrome type Ⅰ (WS1) pedigrees and make prenatal diagnosis for the high-risk 18-week-old fetus. Methods: PAX3 gene was first analyzed by Sanger sequencing and multiplex ligation-dependent probe amplification(MLPA) for detecting pathogenic mutation of the probands of the two pedigrees. The mutations were confirmed by MLPA and Sanger in parents and unrelated healthy individuals.Prenatal genetic diagnosis for the high-risk fetus was performed by amniotic fluid cell after genotyping. Results: A heterozygous PAX3 gene gross deletion (E7 deletion) was identified in all patients from WS1-01 family, and not found in 20 healthy individuals.Prenatal diagnosis in WS1-01 family indicated that the fetus was normal. Molecular studies identified a novel deletion mutation c. 1385_1386delCT within the PAX3 gene in all affected WS1-02 family members, but in none of the unaffected relatives and 200 healthy individuals. Conclusions: PAX3 gene mutation is etiological for two WS1 families. Sanger sequencing plus MLPA is effective and accurate for making gene diagnosis and prenatal diagnosis.

  4. Family type, domestic violence and under-five mortality in Nigeria.

    Science.gov (United States)

    Titilayo, Ayotunde; Anuodo, Oludare O; Palamuleni, Martin E

    2017-06-01

    Nigeria still showcases unacceptably high under-five mortality despite all efforts to reduce the menace. Investigating the significant predictors of this occurrence is paramount. To examine the interplay between family setting, domestic violence and under-five death in Nigeria. Cross-sectional secondary data, the 2013 Nigeria Demographic and Health Survey, (NDHS) women dataset was utilized. Subset of 26,997 ever married and ever had childbirth experience respondents were extracted from the nationally representative women dataset. Dependent and Independent variables were recoded to suit the statistical analysis for the study. The study revealed that 33.7% of the respondents were in polygyny family setting; one-quarter of the ever married women reported ever experiencing one form of domestic violence or the other. The results of the logistic regressions indicate that family type and domestic violence were significant predictors of under-five children mortality in Nigeria. The study concludes that women who belong to polygyny family setting and who ever experienced sexual domestic violence are highly susceptible to experience under-five children mortality than their counterparts. The study recommends that strategies and policies aimed at improving child survival should strengthen women empowerment initiatives, discourage multiple wives and campaign against domestic violence in Nigeria.

  5. Genetic heterogeneity of Usher syndrome: analysis of 151 families with Usher type I.

    Science.gov (United States)

    Astuto, L M; Weston, M D; Carney, C A; Hoover, D M; Cremers, C W; Wagenaar, M; Moller, C; Smith, R J; Pieke-Dahl, S; Greenberg, J; Ramesar, R; Jacobson, S G; Ayuso, C; Heckenlively, J R; Tamayo, M; Gorin, M B; Reardon, W; Kimberling, W J

    2000-12-01

    Usher syndrome type I is an autosomal recessive disorder marked by hearing loss, vestibular areflexia, and retinitis pigmentosa. Six Usher I genetic subtypes at loci USH1A-USH1F have been reported. The MYO7A gene is responsible for USH1B, the most common subtype. In our analysis, 151 families with Usher I were screened by linkage and mutation analysis. MYO7A mutations were identified in 64 families with Usher I. Of the remaining 87 families, who were negative for MYO7A mutations, 54 were informative for linkage analysis and were screened with the remaining USH1 loci markers. Results of linkage and heterogeneity analyses showed no evidence of Usher types Ia or Ie. However, one maximum LOD score was observed lying within the USH1D region. Two lesser peak LOD scores were observed outside and between the putative regions for USH1D and USH1F, on chromosome 10. A HOMOG chi(2)((1)) plot shows evidence of heterogeneity across the USH1D, USH1F, and intervening regions. These results provide conclusive evidence that the second-most-common subtype of Usher I is due to genes on chromosome 10, and they confirm the existence of one Usher I gene in the previously defined USH1D region, as well as providing evidence for a second, and possibly a third, gene in the 10p/q region.

  6. Two novel mutations of CLCN7 gene in Chinese families with autosomal dominant osteopetrosis (type II).

    Science.gov (United States)

    Zheng, Hui; Shao, Chong; Zheng, Yan; He, Jin-Wei; Fu, Wen-Zhen; Wang, Chun; Zhang, Zhen-Lin

    2016-07-01

    Autosomal dominant osteopetrosis type II (ADO-II) is a heritable bone disorder characterized by osteosclerosis, predominantly involving the spine (vertebral end-plate thickening, or rugger-jersey spine), the pelvis ("bone-within-bone" structures) and the skull base. Chloride channel 7 (CLCN7) has been reported to be the causative gene. In this study, we aimed to identify the pathogenic mutation in four Chinese families with ADO-II. All 25 exons of the CLCN7 gene, including the exon-intron boundaries, were amplified and sequenced directly in four probands from the Chinese families with ADO-II. The mutation site was then identified in other family members and 250 healthy controls. In family 1, a known missense mutation c.296A>G in exon 4 of CLCN7 was identified in the proband, resulting in a tyrosine (UAU) to cysteine (UGU) substitution at p.99 (Y99C); the mutation was also identified in his affected father. In family 2, a novel missense mutation c.865G>C in exon 10 was identified in the proband, resulting in a valine (GUC) to leucine (CUC) substitution at p.289 (V289L); the mutation was also identified in her healthy mother and sister. In family 3, a novel missense mutation c.1625C>T in exon 17 of CLCN7 was identified in the proband, resulting in an alanine (GCG) to valine (GUG) substitution at p.542 (A542V); the mutation was also identified in her father. In family 4, a hot spot, R767W (c.2299C>T, CGG>TGG), in exon 24 was found in the proband which once again proved the susceptibility of the site or the similar genetic background in different races. Moreover, two novel mutations, V289L and A542V, occurred at a highly conserved position, found by a comparison of the protein sequences from eight vertebrates, and were predicted to have a pathogenic effect by PolyPhen-2 software, which showed "probably damaging" with a score of approximately 1. These mutation sites were not identified in 250 healthy controls. Our present findings suggest that the novel missense

  7. Family History of Type 2 Diabetes is Associated with Metabolic Syndrome in Obese Female Subjects

    Directory of Open Access Journals (Sweden)

    Ticiana Costa Rodrigues

    2008-08-01

    Full Text Available The aim of this study was to evaluate the association between the family history (FH of type 2 diabetes and metabolic syndrome (MetS in a group of non-diabetic obese female subjects. A cross-sectional study was conducted in 239 female patients with obesity, regularly attending the Internal Medicine Division’s outpatient clinic (Hospital de Clínicas de Porto Alegre, Brazil. The inclusion criteria were patients with body mass index ?30 kg/m2 and absence of type 2 diabetes. The FH was considered positive if a first degree relative had a diagnosis of diabetes. Seventy-four of 239 patients evaluated (30% had a positive FH for type 2 diabetes. Patients with positive FH had higher waist/hip ratio and MetS more often than patients with negative FH. FH of type 2 diabetes was associated with MetS in this sample of non-diabetic obese female patients. Waist/hip ratio and fasting plasma glucose, markers of insulin resistance, were also associated with FH of type 2 diabetes. The simple question: “Do you have a FH of type 2 diabetes?” may help to identify the obese patients that should be better evaluated and intensively treated with the objective of preventing type 2 diabetes.

  8. Screening for Partner Violence Among Family Mediation Clients: Differentiating Types of Abuse.

    Science.gov (United States)

    Cleak, Helen; Schofield, Margot J; Axelsen, Lauren; Bickerdike, Andrew

    2018-04-01

    Family mediation is mandated in Australia for couples in dispute over separation and parenting as a first step in dispute resolution, except where there is a history of intimate partner violence. However, validation of effective well-differentiated partner violence screening instruments suitable for mediation settings is at an early phase of development. This study contributes to calls for better violence screening instruments in the mediation context to detect a differentiated range of abusive behaviors by examining the reliability and validity of both established scales, and newly developed scales that measured intimate partner violence by partner and by self. The study also aimed to examine relationships between types of abuse, and between gender and types of abuse. A third aim was to examine associations between types of abuse and other relationship indicators such as acrimony and parenting alliance. The data reported here are part of a larger mixed method, naturalistic longitudinal study of clients attending nine family mediation centers in Victoria, Australia. The current analyses on baseline cross-sectional screening data confirmed the reliability of three subscales of the Conflict Tactics Scale (CTS2), and the reliability and validity of three new scales measuring intimidation, controlling and jealous behavior, and financial control. Most clients disclosed a history of at least one type of violence by partner: 95% reported psychological aggression, 72% controlling and jealous behavior, 50% financial control, and 35% physical assault. Higher rates of abuse perpetration were reported by partner versus by self, and gender differences were identified. There were strong associations between certain patterns of psychologically abusive behavior and both acrimony and parenting alliance. The implications for family mediation services and future research are discussed.

  9. Identification of a SIRT1 mutation in a family with type 1 diabetes

    DEFF Research Database (Denmark)

    Biason-Lauber, Anna; Böni-Schnetzler, Marianne; Hubbard, Basil P

    2013-01-01

    Type 1 diabetes is caused by autoimmune-mediated β cell destruction leading to insulin deficiency. The histone deacetylase SIRT1 plays an essential role in modulating several age-related diseases. Here we describe a family carrying a mutation in the SIRT1 gene, in which all five affected members...... developed an autoimmune disorder: four developed type 1 diabetes, and one developed ulcerative colitis. Initially, a 26-year-old man was diagnosed with the typical features of type 1 diabetes, including lean body mass, autoantibodies, T cell reactivity to β cell antigens, and a rapid dependence on insulin....... Direct and exome sequencing identified the presence of a T-to-C exchange in exon 1 of SIRT1, corresponding to a leucine-to-proline mutation at residue 107. Expression of SIRT1-L107P in insulin-producing cells resulted in overproduction of nitric oxide, cytokines, and chemokines. These observations...

  10. Relationship between body mass index and family functioning, family communication, family type and parenting style among African migrant parents and children in Victoria, Australia: a parent-child dyad study

    Directory of Open Access Journals (Sweden)

    S. Cyril

    2016-08-01

    Full Text Available Abstract Background Although childhood obesity prevalence is stabilised in developed countries including Australia, it is continuing to rise among migrants and socially disadvantaged groups in these countries. African migrants and refugees in particular, are at high risk of obesity due to changes in their family dynamics. The aim of this study was to examine the difference between children and parental perception of family functioning, family communication, family type and parenting styles and their relationship with body mass index. Methods A cross-sectional parent-child dyad study was conducted among 284 African families from migrant and refugee backgrounds living in metropolitan Melbourne, Australia. Bilingual workers were trained to collect demographic, anthropometric and questionnaire data on family functioning, parenting, family type and family communication. Results Parents and children reported different levels of family dynamics. Children reported a higher prevalence of poor family functioning (61.5 %, 95 % CI: 55.6, 67.2 versus 56.8 %, 95 % CI: 49.7, 61.6 and protective family type (29 %, 95 % CI: 23.9, 34.5 vs. 13.4 %, 95 % CI: 9.9, 17.9, but a lower prevalence of authoritative parenting style (51.6 %, 95 % CI: 45.7, 57.5 vs. 63 %, 95 % CI: 57.5, 68.8 than parents. There was a positive relationship between poor family functioning and child BMI both before (β = 1.28; 95 % CI: 0.14, 2.41; p < 0.05 and after (β = 1.73; 95 % CI: 0.53, 2.94; p < 0.001 controlling for confounders, and an inverse relationship between consensual family type and child BMI after adjustment (β = −1.92; 95 % CI: −3.59, −0.24; p < 0.05. There was no significant relationship between parental BMI and family functioning, communication, family type or parenting style. Conclusion Children’s perception of poor family functioning was associated with childhood obesity. Family interventions to reduce childhood obesity need

  11. Family history of type 2 diabetes, abdominal adipocyte size and markers of the metabolic syndrome.

    Science.gov (United States)

    Anthanont, P; Ramos, P; Jensen, M D; Hames, K C

    2017-11-01

    A major risk factor of type 2 diabetes mellitus (T2DM) is a positive family history of diabetes. First degree relatives (FDR) of patients with T2DM are more insulin resistant and are reported to have larger abdominal subcutaneous adipocytes than adults without a family history. Our objectives were to assess whether FDR of T2DM are associated with larger abdominal adipocytes independent of age, sex and abdominal subcutaneous fat and to assess whether a family history of T2DM is also independently related to femoral adipocyte size, as well as visceral fat and fasting plasma triglyceride (TG) concentrations. We extracted adipocyte size, body composition, plasma TG and demographic data of non-diabetic research participants of previous studies conducted in our laboratory. We ascertained the family history of T2DM from the electronic medical records. Multivariate regression analysis was used to assess whether FDR of T2DM are more likely to have other risk factors after adjusting for known covariates. Of 604 participants, 148 were FDR of T2DM. Although abdominal and femoral adipocyte size was greater in FDR of T2DM than those without a family history (0.74±0.33 vs 0.63±0.33 μg lipid per cell, Phistory of T2DM was a significant predictor of abdominal adipocyte size after adjustment for age and body fat distribution parameters in females (total R 2 =0.5, Phistory of T2DM was not independently predictive of femoral adipocyte size, visceral fat area or TG. Female FDR of T2DM have larger abdominal, but not femoral, adipocytes, even after accounting for age and body fat distribution.

  12. Familial temporal lobe epilepsy due to focal cortical dysplasia type IIIa.

    Science.gov (United States)

    Fabera, Petr; Krijtova, Hana; Tomasek, Martin; Krysl, David; Zamecnik, Josef; Mohapl, Milan; Jiruska, Premysl; Marusic, Petr

    2015-09-01

    Focal cortical dysplasia (FCD) represents a common cause of refractory epilepsy. It is considered a sporadic disorder, but its occasional familial occurrence suggests the involvement of genetic mechanisms. Siblings with intractable epilepsy were referred for epilepsy surgery evaluation. Both patients were examined using video-EEG monitoring, MRI examination and PET imaging. They underwent left anteromedial temporal lobe resection. Electroclinical features pointed to left temporal lobe epilepsy and MRI examination revealed typical signs of left-sided hippocampal sclerosis and increased white matter signal intensity in the left temporal pole. PET examination confirmed interictal hypometabolism in the left temporal lobe. Histopathological examination of resected tissue demonstrated the presence FCD type IIIa, i.e. hippocampal sclerosis and focal cortical dysplasia in the left temporal pole. We present a unique case of refractory mesial temporal lobe epilepsy in siblings, characterized by an identical clinical profile and histopathology of FCD type IIIa, who were successfully treated by epilepsy surgery. The presence of such a high concordance between the clinical and morphological data, together with the occurrence of epilepsy and febrile seizures in three generations of the family pedigree points towards a possible genetic nature of the observed FCD type IIIa. Copyright © 2015 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  13. The relationship between family functioning and the crime types in incarcerated children.

    Science.gov (United States)

    Teker, Kamil; Topçu, Seda; Başkan, Sevgi; Orhon, Filiz Ş; Ulukol, Betül

    2017-06-01

    We investigated the relationship between the family functioning and crime types in incarcerated children. One hundred eighty two incarcerated children aged between 13-18 years who were confined in child-youth prisons and child correctional facilities were enrolled into this descriptive study. Participants completed demographic questions and the McMaster Family Assessment Device (Epstein, Baldwin, & Bishop, 1983) (FAD) with face to face interviews. The crime types were theft, assault (bodily injury), robbery, sexual assault, drug trafficker and murder. The socio-demographic characteristics were compared by using FAD scale, and growing up in a nuclear family had statistically significant better scores for problem solving and communication subscales and the children whose parents had their own house had significantly better problem solving scores When we compared the crime types of children by using problem solving, communication and general functioning subscales of FAD, we found statistical lower scores in assault (bodily injury) group than in theft, sexual assault, murder groups and in drug trafficker group than in murder group, also we found lower scores in drug trafficker group than in theft group for problem solving and general functioning sub-scales, also there were lower scores in bodily injury assault group than in robbery, theft groups and in drug trafficker than in theft group for problem solving subscale. The communication and problem solving sub-scales of FAD are firstly impaired scales for the incarcerated children. We mention these sub-scales are found with unplanned and less serious crimes and commented those as cry for help of the children.

  14. Relationship between body mass index and family functioning, family communication, family type and parenting style among African migrant parents and children in Victoria, Australia: a parent-child dyad study.

    Science.gov (United States)

    Cyril, S; Halliday, J; Green, J; Renzaho, A M N

    2016-08-03

    Although childhood obesity prevalence is stabilised in developed countries including Australia, it is continuing to rise among migrants and socially disadvantaged groups in these countries. African migrants and refugees in particular, are at high risk of obesity due to changes in their family dynamics. The aim of this study was to examine the difference between children and parental perception of family functioning, family communication, family type and parenting styles and their relationship with body mass index. A cross-sectional parent-child dyad study was conducted among 284 African families from migrant and refugee backgrounds living in metropolitan Melbourne, Australia. Bilingual workers were trained to collect demographic, anthropometric and questionnaire data on family functioning, parenting, family type and family communication. Parents and children reported different levels of family dynamics. Children reported a higher prevalence of poor family functioning (61.5 %, 95 % CI: 55.6, 67.2 versus 56.8 %, 95 % CI: 49.7, 61.6) and protective family type (29 %, 95 % CI: 23.9, 34.5 vs. 13.4 %, 95 % CI: 9.9, 17.9), but a lower prevalence of authoritative parenting style (51.6 %, 95 % CI: 45.7, 57.5 vs. 63 %, 95 % CI: 57.5, 68.8) than parents. There was a positive relationship between poor family functioning and child BMI both before (β = 1.28; 95 % CI: 0.14, 2.41; p parental BMI and family functioning, communication, family type or parenting style. Children's perception of poor family functioning was associated with childhood obesity. Family interventions to reduce childhood obesity need to adopt an intergenerational approach to promote a clear understanding of family dynamics between children and parents. Unless these intergenerational challenges associated with family dynamics are clearly addressed in obesity interventions, current obesity prevention initiatives will continue to widen the childhood obesity gap in Australia.

  15. A family history of Type 1 alcoholism differentiates alcohol consumption in high cortisol responders to stress.

    Science.gov (United States)

    Brkic, Sejla; Söderpalm, Bo; Söderpalm Gordh, Anna

    2015-03-01

    The differentiation between high and low cortisol responders to stress is of interest in determining the risk factors which may, along with genetic vulnerability, influence alcohol intake. Thirty-two healthy volunteers, family history positive to alcoholism (FHP, n = 16) and family history negative (FHN, n = 16) attended two laboratory sessions during which alcohol or placebo was offered. There were no differences in consumption of alcohol or placebo between FHP and FHN subjects. STUDY 2: Fifty-eight healthy social drinkers, FHP (n = 27) and FHN (n = 31) attended two laboratory sessions. They were administered either alcohol or placebo in both sessions they attended. All subjects underwent either a stress task (the Trier Social Stress Test, TSST) or a stress-free period, at two separate occasions, before being offered beverage. After the salivary cortisol analysis, subjects in each group were divided into high (HCR) or low (LCR) cortisol responders. After stress, subjects who were FHP-HCR consumed more alcohol than FHN-HCR. There were no differences in the placebo intake between FHP and FHN subjects regardless of their cortisol response. This result indicates that stress promotes alcohol consumption only in subjects with a family history of Type 1 alcoholism who show an increase in cortisol response to stress. This behaviour is similar to that previously observed in alcohol dependent individuals after stress and thus could represent an endophenotype posing a risk for future development of alcohol use disorders. Copyright © 2015. Published by Elsevier Inc.

  16. 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.

  17. SELF - EFFICACY, PSYCHOLOGICAL STRESS, FAMILY SUPPORT, AND EATING BEHAVIOR ON TYPE 2 DIABETES MELLITUS

    Directory of Open Access Journals (Sweden)

    Kusuma Wijaya Ridi Putra

    2016-02-01

    Full Text Available Background: Diabetes mellitus (DM is one of the leading causes of death and it is caused by genetics, nutrition, and unhealthy behaviors. Therefore, changes in lifestyle associated with eating behaviors in diabetes mellitus patients greatly impact on their quality of life. There are many factors related with changes in lifestyle of diabetes mellitus patients, especially eating behaviors. Purpose: This study aims to examine the relationships between self-efficacy, psychological stress, family support, and eating behaviors among type 2 diabetes mellitus (T2DM patients in Sidoarjo, Indonesia. Method: A total of 117 T2DM patients from the Sidoarjo Community Health Center were included in the analysis. Using SPSS IBM 21.0 program, Pearson product moment correlation was performed to analyze data. Results: The findings showed that self-efficacy and family support had positive relationship with eating behaviors (r = .692, p < .001; r = .683, p < .001, respectively. Psychological stress had negative relationship with eating behaviors (r = -.327, p < .001. Conclusion: Self-efficacy, family support, and psychological stress had relationship with eating behaviors. Nurses should pay attention to the factors to make T2DM patients into a long-term commitment toward healthy eating behaviors.

  18. Cerebrotendinous xanthomatosis in a Saudi Arabian family geno typing and long-term follow-up

    International Nuclear Information System (INIS)

    Price Evans, David A.; Mobrad, M.A.; Salah, Kawther A.; Olin, M.; Eggertsen, G.; Mitchell, William D.

    2007-01-01

    A Saudi Arabian family is described in which there 2siblings with typical features of cerebral xanthomatosis (CTX) including premature cataracts, xanthomata of the Achilles tendons, neuro-psychiatric disturbances and atherosclerosis. The two patients were homozygous for a point mutation in the mitochondrial 27-hydroxylase gene (CYP27A1, OMIM 606530) located in the splice site of intron 6, where G exchanged for A (IVS6+1G>A). There parents were cousins, 5 siblings were healthy, 2 were heterozyguous for the mutation and one showed the wild-type genotype. The father was heterozyguous for the mutation, while the other family members were not tested. The progress of 2 CTX patients over 14 years is described; firstly when they were receiving treatment with chenodeoxycholic acid; when this medication was not available and then later when it was restored. A hereditary hyperlipidemia was also present in this family. It is suggested that when this occurs with CTX, a more seriuos illness results that merits more aggressive dual therapy. (author)

  19. Holistic approach to prevention and management of type 2 diabetes mellitus in a family setting.

    Science.gov (United States)

    Ofori, Sandra N; Unachukwu, Chioma N

    2014-01-01

    Diabetes mellitus (DM) is a chronic, progressive metabolic disorder with several complications that affect virtually all the systems in the human body. Type 2 DM (T2DM) is a major risk factor for cardiovascular disease (CVD). The management of T2DM is multifactorial, taking into account other major modifiable risk factors, like obesity, physical inactivity, smoking, blood pressure, and dyslipidemia. A multidisciplinary team is essential to maximize the care of individuals with DM. DM self-management education and patient-centered care are the cornerstones of management in addition to effective lifestyle strategies and pharmacotherapy with individualization of glycemic goals. Robust evidence supports the effectiveness of this approach when implemented. Individuals with DM and their family members usually share a common lifestyle that, not only predisposes the non-DM members to developing DM but also, increases their collective risk for CVD. In treating DM, involvement of the entire family, not only improves the care of the DM individual but also, helps to prevent the risk of developing DM in the family members.

  20. Holistic approach to prevention and management of type 2 diabetes mellitus in a family setting

    Directory of Open Access Journals (Sweden)

    Ofori SN

    2014-05-01

    Full Text Available Sandra N Ofori, Chioma N Unachukwu Department of Internal Medicine, University of Port Harcourt Teaching Hospital, Port Harcourt, Rivers State, Nigeria Abstract: Diabetes mellitus (DM is a chronic, progressive metabolic disorder with several complications that affect virtually all the systems in the human body. Type 2 DM (T2DM is a major risk factor for cardiovascular disease (CVD. The management of T2DM is multifactorial, taking into account other major modifiable risk factors, like obesity, physical inactivity, smoking, blood pressure, and dyslipidemia. A multidisciplinary team is essential to maximize the care of individuals with DM. DM self-management education and patient-centered care are the cornerstones of management in addition to effective lifestyle strategies and pharmacotherapy with individualization of glycemic goals. Robust evidence supports the effectiveness of this approach when implemented. Individuals with DM and their family members usually share a common lifestyle that, not only predisposes the non-DM members to developing DM but also, increases their collective risk for CVD. In treating DM, involvement of the entire family, not only improves the care of the DM individual but also, helps to prevent the risk of developing DM in the family members. Keywords: cardiovascular disease, multifactorial management

  1. Current Practice in Meeting Child Health Needs in Family Support Services: Variation by Service Type and Perspectives on Future Developments

    Science.gov (United States)

    Gabhainn, Saoirse Nic; Dolan, Pat; Canavan, John; O'Higgins, Siobhan

    2009-01-01

    The needs of all service users include those related to physical, emotional, sexual and mental health. This article documents where child health needs are recognised and being met within family support services in the west of Ireland, investigates whether there is variation across different types of family support services and presents the views…

  2. A Comparison of Types of Support for Lower-Skill Workers: Evidence for the Importance of Family Supportive Supervisors

    Science.gov (United States)

    Muse, Lori A.; Pichler, Shaun

    2011-01-01

    The work-family literature to date does not offer a clear picture in terms of the relative importance of different types of supports for balancing work and family demands. Grounded in conservation or resources theory, we develop an integrative model relating multiple forms of social support, both formal (i.e., work-life benefit use) and informal…

  3. [Analysis of SOX10 gene mutation in a family affected with Waardenburg syndrome type II].

    Science.gov (United States)

    Zheng, Lei; Yan, Yousheng; Chen, Xue; Zhang, Chuan; Zhang, Qinghua; Feng, Xuan; Hao, Shen

    2018-02-10

    OBJECTIVE To detect potential mutation of SOX10 gene in a pedigree affected with Warrdenburg syndrome type II. METHODS Genomic DNA was extracted from peripheral blood samples of the proband and his family members. Exons and flanking sequences of MITF, PAX3, SOX10, SNAI2, END3 and ENDRB genes were analyzed by chip capturing and high throughput sequencing. Suspected mutations were verified with Sanger sequencing. RESULTS A c.127C>T (p.R43X) mutation of the SOX10 gene was detected in the proband, for which both parents showed a wild-type genotype. CONCLUSION The c.127C>T (p.R43X) mutation of SOX10 gene probably underlies the ocular symptoms and hearing loss of the proband.

  4. [Diabetic foot risk in patients with type II diabetes mellitus in a family medicine unit].

    Science.gov (United States)

    Márquez-Godínez, S A; Zonana-Nacach, A; Anzaldo-Campos, M C; Muñoz-Martínez, J A

    2014-01-01

    To determine the risk of diabetic foot in patients with type II diabetes mellitus (DM) seen in a Family Medicine Unit. The study included type II DM patients with a disease duration ≥ 5 years seen in a Family Medicine Unit, Tijuana, Mexico, during September-December 2011. Neuropathy was assessed with the Diabetic Neuropathy Symptom questionnaire, and pressure sensation using a 10-g Semmes-Weinstein monofilament. A patient had a high risk of diabetic foot if there was sensitivity loss, foot deformities, and non-palpable pedal pulses. We studied 205 patients with an average (± SD) age and DM duration of 59 ± 10 years and 10.7 ± 6.7 years, respectively. Ninety one patients (44%) had a high risk of developing diabetic foot, and it was associated with; an education of less than 6 years (OR 2.3; 95%CI: 1-1-4.1), DM disease duration ≥ 10 years (OR 5.1; 95%CI: 2.8-9.4), female gender (OR 2.0; 95%CI: 1.1-3.6), monthly familiar income diabetic neuropathy, since they have a high risk of diabetic foot. Copyright © 2013 Sociedad Española de Médicos de Atención Primaria (SEMERGEN). Publicado por Elsevier España. All rights reserved.

  5. ClC-K chloride channels: emerging pathophysiology of Bartter syndrome type 3.

    Science.gov (United States)

    Andrini, Olga; Keck, Mathilde; Briones, Rodolfo; Lourdel, Stéphane; Vargas-Poussou, Rosa; Teulon, Jacques

    2015-06-15

    The mutations in the CLCNKB gene encoding the ClC-Kb chloride channel are responsible for Bartter syndrome type 3, one of the four variants of Bartter syndrome in the genetically based nomenclature. All forms of Bartter syndrome are characterized by hypokalemia, metabolic alkalosis, and secondary hyperaldosteronism, but Bartter syndrome type 3 has the most heterogeneous presentation, extending from severe to very mild. A relatively large number of CLCNKB mutations have been reported, including gene deletions and nonsense or missense mutations. However, only 20 CLCNKB mutations have been functionally analyzed, due to technical difficulties regarding ClC-Kb functional expression in heterologous systems. This review provides an overview of recent progress in the functional consequences of CLCNKB mutations on ClC-Kb chloride channel activity. It has been observed that 1) all ClC-Kb mutants have an impaired expression at the membrane; and 2) a minority of the mutants combines reduced membrane expression with altered pH-dependent channel gating. Although further investigation is needed to fully characterize disease pathogenesis, Bartter syndrome type 3 probably belongs to the large family of conformational diseases, in which the mutations destabilize channel structure, inducing ClC-Kb retention in the endoplasmic reticulum and accelerated channel degradation. Copyright © 2015 the American Physiological Society.

  6. Work–family conflict based on strain: The most hazardous type of conflict in Iranian hospitals nurses

    OpenAIRE

    Morteza Charkhabi; Riccardo Sartori; Andrea Ceschi

    2016-01-01

    Orientation: Work and family conflicts continuously and negatively affect employees’ performance. Previous research has mostly studied the impact of the two distinct dimensions of work–family conflict (WFC) and family–work conflict (FWC) on health outcomes, whereas the impact of more specific dimensions of these two general types of conflict on health outcomes is little known. Therefore, we now need to also measure the impact of more specified types of these conflicts on health outcomes. ...

  7. Novel association of neurofibromatosis type 1-causing mutations in families with neurofibromatosis-Noonan syndrome.

    Science.gov (United States)

    Ekvall, Sara; Sjörs, Kerstin; Jonzon, Anders; Vihinen, Mauno; Annerén, Göran; Bondeson, Marie-Louise

    2014-03-01

    Neurofibromatosis-Noonan syndrome (NFNS) is a rare condition with clinical features of both neurofibromatosis type 1 (NF1) and Noonan syndrome (NS). All three syndromes belong to the RASopathies, which are caused by dysregulation of the RAS-MAPK pathway. The major gene involved in NFNS is NF1, but co-occurring NF1 and PTPN11 mutations in NFNS have been reported. Knowledge about possible involvement of additional RASopathy-associated genes in NFNS is, however, very limited. We present a comprehensive clinical and molecular analysis of eight affected individuals from three unrelated families displaying features of NF1 and NFNS. The genetic etiology of the clinical phenotypes was investigated by mutation analysis, including NF1, PTPN11, SOS1, KRAS, NRAS, BRAF, RAF1, SHOC2, SPRED1, MAP2K1, MAP2K2, and CBL. All three families harbored a heterozygous NF1 variant, where the first family had a missense variant, c.5425C>T;p.R1809C, the second family a recurrent 4bp-deletion, c.6789_6792delTTAC;p.Y2264Tfs*6, and the third family a splice-site variant, c.2991-1G>A, resulting in skipping of exon 18 and an in-frame deletion of 41 amino acids. These NF1 variants have all previously been reported in NF1 patients. Surprisingly, both c.6789_6792delTTAC and c.2991-1G>A are frequently associated with NF1, but association to NFNS has, to our knowledge, not previously been reported. Our results support the notion that NFNS represents a variant of NF1, genetically distinct from NS, and is caused by mutations in NF1, some of which also cause classical NF1. Due to phenotypic overlap between NFNS and NS, we propose screening for NF1 mutations in NS patients, preferentially when café-au-lait spots are present. © 2013 Wiley Periodicals, Inc.

  8. Reducing health risk in family members of patients with type 2 diabetes: views of first degree relatives

    Directory of Open Access Journals (Sweden)

    O'Sullivan Bernadette

    2009-12-01

    Full Text Available Abstract Background Patients with type 2 diabetes can have an important role in discussing health risk within families. This study aimed to establish the acceptability to first degree relatives towards their relative with type 2 diabetes intervening as health promoters in their own families, using the Health Belief Model as a theoretical framework for evaluation. Methods Cross-sectional questionnaire design. Survey questionnaire for first degree relative (sibling or child mailed to a random sample of patients with type 2 diabetes registered with an urban hospital diabetes clinic (n = 607 eligible patients. Patients were asked to pass on questionnaires to one to two first degree relatives. Results Questionnaires were returned from 257 families (42% response rate with two responses provided by 107 families (a total of 364 questionnaires. The majority (94% of first degree relatives of patients with type 2 diabetes would like to be informed about reducing their risk. Half (48% of respondents reported being spoken to by a relative with type 2 diabetes about their risk of diabetes. Those spoken to were more likely to see themselves at risk of diabetes, to worry about developing diabetes and to view diabetes as a serious condition. Conclusions A role for patients with type 2 diabetes in discussing health risk in their family appears to be acceptable to many relatives. Discussion of risk and interventions to reduce health risk with their relatives should be encouraged in patients with type 2 diabetes.

  9. Reducing health risk in family members of patients with type 2 diabetes: views of first degree relatives.

    LENUS (Irish Health Repository)

    Whitford, David L

    2009-01-01

    BACKGROUND: Patients with type 2 diabetes can have an important role in discussing health risk within families. This study aimed to establish the acceptability to first degree relatives towards their relative with type 2 diabetes intervening as health promoters in their own families, using the Health Belief Model as a theoretical framework for evaluation. METHODS: Cross-sectional questionnaire design. Survey questionnaire for first degree relative (sibling or child) mailed to a random sample of patients with type 2 diabetes registered with an urban hospital diabetes clinic (n = 607 eligible patients). Patients were asked to pass on questionnaires to one to two first degree relatives. RESULTS: Questionnaires were returned from 257 families (42% response rate) with two responses provided by 107 families (a total of 364 questionnaires). The majority (94%) of first degree relatives of patients with type 2 diabetes would like to be informed about reducing their risk. Half (48%) of respondents reported being spoken to by a relative with type 2 diabetes about their risk of diabetes. Those spoken to were more likely to see themselves at risk of diabetes, to worry about developing diabetes and to view diabetes as a serious condition. CONCLUSIONS: A role for patients with type 2 diabetes in discussing health risk in their family appears to be acceptable to many relatives. Discussion of risk and interventions to reduce health risk with their relatives should be encouraged in patients with type 2 diabetes.

  10. Family Therapy

    Science.gov (United States)

    Family therapy Overview Family therapy is a type of psychological counseling (psychotherapy) that can help family members improve communication and resolve conflicts. Family therapy is usually provided by a psychologist, ...

  11. Effects of diabetes-related family stress on glycemic control in young patients with type 1 diabetes: Systematic review.

    Science.gov (United States)

    Tsiouli, Elina; Alexopoulos, Evangelos C; Stefanaki, Charikleia; Darviri, Christina; Chrousos, George P

    2013-02-01

    To investigate the way that family stress influences glycemic control among patients with diabetes who are younger than 18 years of age. PubMed and Scopus were searched for relevant studies published since 1990 using the following key words: diabetes type 1, glycemic control, family stress, family conflict, and family function. In total, 1478 papers were identified in the initial search. The final review included 6 cohort studies, 3 cross-sectional studies, and 1 qualitative review in which family stress was assessed using specific diabetes-related conflict measurement instruments, and glycemic control was evaluated by glycosylated hemoglobin measurement. In most studies family stress was negatively correlated with patients' glycemic control. Family function was strongly related to patients' glycemic control, while family conflict was adversely associated with glycemic control. Families of low socioeconomic status, those of adolescents with diabetes, and those of single parents were more prone to diabetes-related stress and thus more susceptible to worse glycemic control. Therapeutic psychological interventions and educational programs can help alleviate family diabetes-related stress and will likely improve glycemic control.

  12. The Relationship Between Perceived Family Climate and Glycemic Control in Type 1 Diabetes Mellitus Adolescent Patients.

    Science.gov (United States)

    Eray, Şafak; Uçar, Halit Necmi; Çetinkaya, Fatma; Eren, Erdal; Vural, Pınar

    2017-09-01

    Type 1 diabetes mellitus (T1DM) is a chronic disease which ranks third in children under age 16 years. Expressed emotion (EE) is a term that indicates a specific family climate including lack of emotional support (LES), irritability, and emotional over-involvement. It is known that the family environment is highly important for glycemic control in diabetic adolescents. In this study, the relationship between perceived EE and glycemic control in adolescents diagnosed with T1DM not accompanied by psychopathology were investigated. The study included 49 adolescents with T1DM and 50 adolescents as a control group. Adolescents with psychopathology and intellectual disability were excluded from the study. Perceived EE was measured by the Shortened Level of Expressed Emotion Scale (SLEES) and blood sugar regulation was assessed by HbA1c levels. The adolescents with T1DM showed a significant difference in perceived EE (p=0.020) and LES (p=0.014) when compared with the control group. When diabetic adolescents were compared among themselves, the diabetic adolescents with poor glycemic control perceived greater EE (p=0.033) and less emotional support (p=0.049). In regression analyses, the predictive power of mother's educational level, the employment status of mothers and the subscale "LES" of SLEES combined to explain HbA1c level was determined to be 37.8%. The strong relationship between perceived EE and glycemic control showed us that perceived EE can hinder treatment compliance without causing psychopathology. For this reason, it is recommended that not only patients with psychopathology, but all diabetic adolescents receive psychosocial support and family interventions.

  13. Direct sequencing of FAH gene in Pakistani tyrosinemia type 1 families reveals a novel mutation.

    Science.gov (United States)

    Ijaz, Sadaqat; Zahoor, Muhammad Yasir; Imran, Muhammad; Afzal, Sibtain; Bhinder, Munir A; Ullah, Ihsan; Cheema, Huma Arshad; Ramzan, Khushnooda; Shehzad, Wasim

    2016-03-01

    Hereditary tyrosinemia type 1 (HT1) is a rare inborn error of tyrosine catabolism with a worldwide prevalence of one out of 100,000 live births. HT1 is clinically characterized by hepatic and renal dysfunction resulting from the deficiency of fumarylacetoacetate hydrolase (FAH) enzyme, caused by recessive mutations in the FAH gene. We present here the first report on identification of FAH mutations in HT1 patients from Pakistan with a novel one. Three Pakistani families, each having one child affected with HT1, were enrolled over a period of 1.5 years. Two of the affected children had died as they were presented late with acute form. All regions of the FAH gene spanning exons and splicing sites were amplified by polymerase chain reaction (PCR) and mutation analysis was carried out by direct sequencing. Results of sequencing were confirmed by restriction fragment length polymorphism (PCR-RFLP) analysis. Three different FAH mutations, one in each family, were found to co-segregate with the disease phenotype. Two of these FAH mutations have been known (c.192G>T and c.1062+5G>A [IVS12+5G>A]), while c.67T>C (p.Ser23Pro) was a novel mutation. The novel variant was not detected in any of 120 chromosomes from normal ethnically matched individuals. Most of the HT1 patients die before they present to hospitals in Pakistan, as is indicated by enrollment of only three families in 1.5 years. Most of those with late clinical presentation do not survive due to delayed diagnosis followed by untimely treatment. This tragic condition advocates the establishment of expanded newborn screening program for HT1 within Pakistan.

  14. 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.

  15. Screening of a healthy newborn identifies three adult family members with symptomatic glutaric aciduria type I

    Directory of Open Access Journals (Sweden)

    MCH Janssen

    2014-06-01

    Full Text Available We report three adult sibs (one female, two males with symptomatic glutaric acidura type I, who were diagnosed after a low carnitine level was found by newborn screening in a healthy newborn of the women. All three adults had low plasma carnitine, elevated glutaric acid levels and pronounced 3-hydroxyglutaric aciduria. The diagnosis was confirmed by undetectable glutaryl-CoA dehydrogenase activity in lymphocytes and two pathogenic heterozygous mutations in the GCDH gene (c.1060A>G, c.1154C>T. These results reinforce the notion that abnormal metabolite levels in newborns may lead to the diagnosis of adult metabolic disease in the mother and potentially other family members.

  16. 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...

  17. Abundant general solitary wave solutions to the family of KdV type equations

    Directory of Open Access Journals (Sweden)

    Md. Azmol Huda

    2017-03-01

    Full Text Available This work explores the construction of more general exact traveling wave solutions of some nonlinear evolution equations (NLEEs through the application of the (G′/G, 1/G-expansion method. This method is allied to the widely used (G′/G-method initiated by Wang et al. and can be considered as an extension of the (G′/G-expansion method. For effectiveness, the method is applied to the family of KdV type equations. Abundant general form solitary wave solutions as well as periodic solutions are successfully obtained through this method. Moreover, in the obtained wider set of solutions, if we set special values of the parameters, some previously known solutions are revived. The approach of this method is simple and elegantly standard. Having been computerized it is also powerful, reliable and effective.

  18. The use of the codes from MCU family for calculations of WWER type reactors

    International Nuclear Information System (INIS)

    Abagijan, L.P.; Alexeyev, N.I.; Bryzgalov, V.I.; Gomin, E.A.; Glushkov, A.E.; Gorodkov, S.S.; Gurevich, M.I.; Kalugin, M.A.; Marin, S.V.; Shkarovsky, D.A.; Yudkevich, M.S.

    2000-01-01

    The MCU-RFFI/A and MCU-REA codes developed within the framework of the long term MCU project are widely used for calculations of neutron physic characteristics of WWER type reactors. Complete descriptions of the codes are available in both Russian and English. The codes are verified and validated by means of the comparison of calculated results with experimental data and mathematical benchmarks. The codes are licensed by Russian Nuclear and Criticality Safety Regulatory Body (Gosatomnadzor RF) (Code Passports: N 61 of 17.10.1966 and N 115 of 02.03.2000 accordingly)). The report gives examples of WWER reactor physic tasks important for practice solved using the codes from the MCU family. Some calculational results are given too. (Authors)

  19. 45 CFR 286.55 - What types of costs are subject to the administrative cost limit on Tribal Family Assistance...

    Science.gov (United States)

    2010-10-01

    ... 45 Public Welfare 2 2010-10-01 2010-10-01 false What types of costs are subject to the... § 286.55 What types of costs are subject to the administrative cost limit on Tribal Family Assistance... tracking, data entry and monitoring, including personnel and other costs associated with the automation...

  20. Cloning, purification and crystallization of a Walker-type Pyrococcus abyssi ATPase family member

    Energy Technology Data Exchange (ETDEWEB)

    Uhring, Muriel; Bey, Gilbert; Lecompte, Odile; Cavarelli, Jean; Moras, Dino; Poch, Olivier, E-mail: poch@igbmc.u-strasbg.fr [Département de Biologie et Génomiques Structurales, UMR 7104, Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS/INSERM/ULP Strasbourg, 1 Rue Laurent Fries, 64404 Illkirch (France)

    2005-10-01

    The Walker-type ATPase PABY2304 of P. abyssi has been cloned, overexpressed, purified and crystallized. X-ray diffraction data from selenomethionine-derivative crystals have been collected to 2.6 Å. The structure has been solved by MAD techniques. Several ATPase proteins play essential roles in the initiation of chromosomal DNA replication in archaea. Walker-type ATPases are defined by their conserved Walker A and B motifs, which are associated with nucleotide binding and ATP hydrolysis. A family of 28 ATPase proteins with non-canonical Walker A sequences has been identified by a bioinformatics study of comparative genomics in Pyrococcus genomes. A high-throughput structural study on P. abyssi has been started in order to establish the structure of these proteins. 16 genes have been cloned and characterized. Six out of the seven soluble constructs were purified in Escherichia coli and one of them, PABY2304, has been crystallized. X-ray diffraction data were collected from selenomethionine-derivative crystals using synchrotron radiation. The crystals belong to the orthorhombic space group C2, with unit-cell parameters a = 79.41, b = 48.63, c = 108.77 Å, and diffract to beyond 2.6 Å resolution.

  1. Cloning, purification and crystallization of a Walker-type Pyrococcus abyssi ATPase family member

    International Nuclear Information System (INIS)

    Uhring, Muriel; Bey, Gilbert; Lecompte, Odile; Cavarelli, Jean; Moras, Dino; Poch, Olivier

    2005-01-01

    The Walker-type ATPase PABY2304 of P. abyssi has been cloned, overexpressed, purified and crystallized. X-ray diffraction data from selenomethionine-derivative crystals have been collected to 2.6 Å. The structure has been solved by MAD techniques. Several ATPase proteins play essential roles in the initiation of chromosomal DNA replication in archaea. Walker-type ATPases are defined by their conserved Walker A and B motifs, which are associated with nucleotide binding and ATP hydrolysis. A family of 28 ATPase proteins with non-canonical Walker A sequences has been identified by a bioinformatics study of comparative genomics in Pyrococcus genomes. A high-throughput structural study on P. abyssi has been started in order to establish the structure of these proteins. 16 genes have been cloned and characterized. Six out of the seven soluble constructs were purified in Escherichia coli and one of them, PABY2304, has been crystallized. X-ray diffraction data were collected from selenomethionine-derivative crystals using synchrotron radiation. The crystals belong to the orthorhombic space group C2, with unit-cell parameters a = 79.41, b = 48.63, c = 108.77 Å, and diffract to beyond 2.6 Å resolution

  2. Sansevieria roxburghiana Schult. & Schult. F. (Family: Asparagaceae) Attenuates Type 2 Diabetes and Its Associated Cardiomyopathy.

    Science.gov (United States)

    Bhattacharjee, Niloy; Khanra, Ritu; Dua, Tarun K; Das, Susmita; De, Bratati; Zia-Ul-Haq, M; De Feo, Vincenzo; Dewanjee, Saikat

    2016-01-01

    Sansevieria roxburghiana Schult. & Schult. F. (Family: Asparagaceae) rhizome has been claimed to possess antidiabetic activity in the ethno-medicinal literature in India. Therefore, present experiments were carried out to explore the protective role of edible (aqueous) extract of S. roxburghiana rhizome (SR) against experimentally induced type 2 diabetes mellitus (T2DM) and its associated cardiomyopathy in Wistar rats. SR was chemically characterized by GC-MS analysis. Antidiabetic activity of SR (50 and 100 mg/kg, orally) was measured in high fat diets (ad libitum) + low-single dose of streptozotocin (35 mg/kg, intraperitoneal) induced type 2 diabetic (T2D) rat. Fasting blood glucose level was measured at specific intermissions. Serum biochemical and inflammatory markers were estimated after sacrificing the animals. Besides, myocardial redox status, expressions of signal proteins (NF-κB and PKCs), histological and ultrastructural studies of heart were performed in the controls and SR treated T2D rats. Phytochemical screening of the crude extract revealed the presence of phenolic compounds, sugar alcohols, sterols, amino acids, saturated fatty acids within SR. T2D rats exhibited significantly (p disintegration, oxidative stress, vascular inflammation and prevented the activation of oxidative stress induced signaling cascades leading to cell death. Histological and ultra-structural studies of cardiac tissues supported the protective characteristics of SR. From the present findings it can be concluded that, SR could offer protection against T2DM and its associated cardio-toxicity via multiple mechanisms viz. hypoglycemic, antioxidant and anti-inflammatory actions.

  3. Differences in psychological health and family dysfunction by sexual victimization type in a clinical sample of African American adolescent women.

    Science.gov (United States)

    Cecil, Heather; Matson, Steven C

    2005-08-01

    We examined levels of sexual victimization among a sample of 249 14- to 19-year-old African American adolescent women. Victimization was common: 32.1% reported having been raped, 33.7% had experienced sexual coercion, and 10.8% reported an attempted rape. Only 23.4% had never been victimized. We investigated whether levels of psychological health and family dysfunction varied as a function of the type of sexual victimization. Girls who had been raped had lower levels of self-esteem and mastery and higher levels of depression compared to girls who reported no sexual victimization. Significantly higher levels of family cohesion and significantly lower levels of family support were reported by girls who had been raped versus girls who reported no sexual victimization. These findings are a starting point for future studies by providing evidence that levels of mental health and family dysfunction vary by the type of sexual victimization experienced.

  4. Intensive multifactorial treatment modifies the effect of family history of diabetes on glycaemic control in people with Type 2 diabetes

    DEFF Research Database (Denmark)

    Eliraqi, G M; Vistisen, D; Lauritzen, T

    2015-01-01

    Aim To investigate whether intensive multifactorial treatment can reverse the predisposed adverse phenotype of people with Type 2 diabetes who have a family history of diabetes. Methods Data from the randomized controlled trial ADDITION-Denmark were used. A total of 1441 newly diagnosed patients...... pressure, lipids and HbA1c) after 5 years of follow-up in participants with and without a family history of diabetes. An interaction term between family history of diabetes and treatment group was included in the models to test for a modifying effect of the intervention. All analyses were adjusted for age...... with diabetes (598 with family history of diabetes) were randomized to intensive treatment or routine care. Family history of diabetes was defined as having one parent and/or sibling with diabetes. Linear mixed-effects models were used to assess the changes in risk factors (BMI, waist circumference, blood...

  5. A Systematic Review: Family Support Integrated with Diabetes Self-Management among Uncontrolled Type II Diabetes Mellitus Patients

    OpenAIRE

    Pamungkas, Rian Adi; Chamroonsawasdi, Kanittha; Vatanasomboon, Paranee

    2017-01-01

    The rate of type-2 diabetes mellitus (T2D) is dramatically increasing worldwide. Continuing diabetes mellitus (DM) care needs effective self-management education and support for both patients and family members. This study aimed to review and describe the impacts of diabetes mellitus self-management education (DSME) that involve family members on patient outcomes related to patient health behaviors and perceived self-efficacy on self-management such as medication adherence, blood glucose moni...

  6. Financial costs for families of children with Type 1 diabetes in lower-income countries.

    Science.gov (United States)

    Ogle, G D; Kim, H; Middlehurst, A C; Silink, M; Jenkins, A J

    2016-06-01

    To assess the direct costs of necessary consumables for minimal care of a child with Type 1 diabetes in countries where the public health system does not regularly provide such care. Supply costs were collected between January 2013 and February 2015 from questionnaires submitted by centres requesting International Diabetes Federation Life for a Child Program support. All 20 centres in 15 countries agreed to the use of their responses. Annual costs for minimal care were estimated for: 18 × 10 ml 100 IU/ml insulin, 1/3 cost of a blood glucose meter, two blood glucose test strips/day, two syringes/week, and four HbA1c tests/year. Costs were expressed in US dollars, and as % of gross national income (purchasing power parity) per capita. The ranges (median) for the minimum supply costs through the private system were: insulin 10 ml 100 IU/ml equivalent vial: $5.10-$25 ($8.00); blood glucose meter: $15-$121 ($33.33); test strip: $0.15-$1.20 ($0.50); syringe: $0.10-$0.56 ($0.20); and HbA1c : $4.90-$20 ($9.75). Annual costs ranged from $255 (Pakistan) to $1,185 (Burkina Faso), with a median of $553. Annual % gross national income costs were 12-370% (median 56%). For the lowest 20% income earners the annual cost ranged 20-1535% (median 153%). St Lucia and Mongolia were the only countries whose governments consistently provided insulin. No government provided meters and strips, which were the most expensive supplies (62% of total cost). In less-resourced countries, even minimal care is beyond many families' means. In addition, families face additional costs such as consultations, travel and indirect costs. Action to prevent diabetes-related death and morbidity is needed. © 2015 Diabetes UK.

  7. Impaired Fasting Glucose in Omani Adults with no Family History of Type 2 Diabetes

    Directory of Open Access Journals (Sweden)

    Sawsan Al-Sinani

    2014-05-01

    Full Text Available Objectives: The aim of this study was to estimate the prevalence of impaired fasting glucose (IFG among Omani adults with no family history (FH of diabetes and to investigate the factors behind the risk of developing type 2 diabetes (T2D, while excluding a FH of diabetes. Methods: A total of 1,182 Omani adults, aged ≥40 years, visited the Family Medicine & Community Health Clinic at Sultan Qaboos University Hospital, Oman, on days other than the Diabetes Clinic days, from July 2010 to July 2011. The subjects were interviewed and asked if they had T2D or a FH of T2D. Results: Only 191 (16% reported no personal history of T2D or FH of the disease. Of these, anthropometric and biochemical data was complete in 159 subjects. Of these a total of 42 (26% had IFG according to the American Diabetes Association criteria. Body mass index, fasting insulin, haemoglobin A1C and blood pressure (BP, were significantly higher among individuals with IFG (P <0.01, P <0.05, P <0.01 and P <0.01, respectively. In addition, fasting insulin, BP and serum lipid profile were correlated with obesity indices (P <0.05. Obesity indices were strongly associated with the risk of IFG among Omanis, with waist circumference being the strongest predictor. Conclusion: Despite claiming no FH of diabetes, a large number of Omani adults in this study had a high risk of developing diabetes. This is possibly due to environmental factors and endogamy. The high prevalence of obesity combined with genetically susceptible individuals is a warning that diabetes could be a future epidemic in Oman.

  8. Family CHAOS is associated with glycaemic control in children and adolescents with type 1 diabetes mellitus.

    Science.gov (United States)

    Chae, M; Taylor, B J; Lawrence, J; Healey, D; Reith, D M; Gray, A; Wheeler, B J

    2016-02-01

    Despite advances in the medical management of type 1 diabetes mellitus (T1DM), for many, glycaemic control remains substandard. Other factors are clearly important in determining success, or lack thereof, with diabetes management. With this in mind, we have investigated whether family CHAOS may provide a novel tool to identify when environmental confusion could impact on diabetes management and subsequent glycaemic control. A case-control study of children and adolescents with established T1DM and age-/sex-matched controls was conducted. Demographic information, both maternal and paternal CHAOS scores, and HbA1c were collected. Statistical analysis was undertaken to explore associations between T1DM and CHAOS and between CHAOS and HbA1c. Data on 65 children with T1DM and 60 age-/sex-matched controls were obtained. There was no evidence of group differences for maternal CHAOS (p = 0.227), but paternal CHAOS scores were higher for the T1DM group (p = 0.041). Greater maternal and paternal CHAOS scores were both associated with higher HbA1c (p ≤ 0.027). The maternal association remained after controlling for diabetes duration, SMBG frequency, and insulin therapy. In children with T1DM, there appears to be a negative association between increased environmental confusion, as rated by CHAOS, and glycaemic control. In addition, when compared to controls, fathers of children and adolescents with T1DM appear to experience CHAOS differently to mothers. These findings contribute to the growing body of literature exploring psychosocial factors in T1DM. Continuing efforts are required to fully understand how the family and psychosocial environment interact with diabetes to impact on long-term health outcomes.

  9. Genetic analysis of Tunisian families with Usher syndrome type 1: toward improving early molecular diagnosis.

    Science.gov (United States)

    Ben-Rebeh, Imen; Grati, Mhamed; Bonnet, Crystel; Bouassida, Walid; Hadjamor, Imen; Ayadi, Hammadi; Ghorbel, Abdelmonem; Petit, Christine; Masmoudi, Saber

    2016-01-01

    Usher syndrome accounts for about 50% of all hereditary deaf-blindness cases. The most severe form of this syndrome, Usher syndrome type I (USH1), is characterized by profound congenital sensorineural deafness, vestibular dysfunction, and retinitis pigmentosa. Six USH1 genes have been identified, MYO7A, CDH23, PCDH15, USH1C, SANS, and CIB2, encoding myosin VIIA, cadherin-23, protocadherin-15, harmonin, scaffold protein containing ankyrin repeats and a sterile alpha motif (SAM) domain, and calcium- and integrin-binding member 2, respectively. In the present study, we recruited four Tunisian families with a diagnosis of USH1, together with healthy unrelated controls. Affected members underwent detailed audiologic and ocular examinations. We used the North African Deafness (NADf) chip to search for known North African mutations associated with USH. Then, we selected microsatellite markers covering USH1 known loci to genotype the DNA samples. Finally, we performed DNA sequencing of three known USH1 genes: MYO7A, PCDH15, and USH1C. Four biallelic mutations, all single base changes, were found in the MYO7A, USH1C, and PCDH15 genes. These mutations consist of a previously reported splicing defect c.470+1G>A in MYO7A, three novel variants, including two nonsense (p.Arg3X and p.Arg134X) in USH1C and PCDH15, respectively, and one frameshift (p.Lys615Asnfs*6) in MYO7A. We found a remarkable genetic heterogeneity in the studied families with USH1 with a variety of mutations, among which three were novel. These novel mutations will be included in the NADf mutation screening chip that will allow a higher diagnosis efficiency of this extremely genetically heterogeneous disease. Ultimately, efficient molecular diagnosis of USH in a patient's early childhood is of utmost importance, allowing better educational and therapeutic management.

  10. Relationship between family history of type 2 diabetes and serum FGF21.

    Science.gov (United States)

    Davis, Greggory R; Deville, Tiffany; Guillory, Joshua; Bellar, David; Nelson, Arnold G

    2017-11-01

    Determining predictive markers for the development of type 2 diabetes (T2D), particularly in young individuals, offers immense potential benefits in preventative medicine. Previous research examining serum fibroblast growth factor 21 (FGF21) in humans has revealed equivocal relationships with clinical markers of metabolic dysfunction. However, it is unknown to what extent, if any, first-degree family history of T2D (mother or father of the participant diagnosed with T2D) level affects serum FGF21 levels. The aim of this study was to determine whether in healthy individuals with FH+ (n = 18) and without FH- (n = 17) a family history of T2D affects serum FGF21. Fasting serum and clinical, metabolic and anthropometric measures were determined using a cross-sectional design. Differences between groups for FGF21 were not significant (FH+ = 266 pg/mL ± 51·4, FH = 180 pg/mL ± 29; Z = 0·97, P = 0·33). Adiponectin values were lower in FH+ (8·81 μg/mL ± 2·14) compared to FH- (10·65 μg/mL ± 1·44; F = 8·83, P = 0·01). Resistin was negatively correlated with FGF21 for all participants (r = -0·38, P = 0·03), but no other clinical, metabolic, or serum markers were predictive for serum FGF21 in FH+ or FH-. Serum FGF21 is not significantly different between FH+ and FH- in young, healthy individuals. Based upon the data of this pilot study, it is unclear whether serum FGF21 can be used as a stand-alone predictive marker for T2D in healthy subjects. © 2017 Stichting European Society for Clinical Investigation Journal Foundation.

  11. Counseling Patients with Senile Dementia of the Alzheimer Type and Their Families.

    Science.gov (United States)

    LaBarge, Emily

    1981-01-01

    Discusses symptoms of Alzheimer Disease and suggests client-centered counseling techniques to use with patients and family. Considers the disease's effect on family relationships relative to stage of family development. Examines the adjustment of the caregiving spouse. Offers practical suggestions for coping. (RC)

  12. Average happiness and dominant family type in Western Europe around 2000

    NARCIS (Netherlands)

    G.R. Brulé (Gaël); R. Veenhoven (Ruut)

    2014-01-01

    textabstractResearch on the relation between family and happiness has focused on the micro level and considered the effects of an individual’s place in the family system, such as whether or not one is married and exchange of support with kin. Macro level differences in the family system as such have

  13. Self-Esteem of Rural Teens: Results for Three Family Types.

    Science.gov (United States)

    Hall, Anita M.; Rowe, George P.

    1991-01-01

    A total of 108 (of 200) adolescents completed the Coopersmith Self-Esteem Inventory and family characteristics questionnaire. Results showed that it is not the structure of the family but the degree of discord within the family that influences self-esteem. (Author/JOW)

  14. Types of Family Caregiving and Daily Experiences in Midlife and Late Adulthood: The Moderating Influences of Marital Status and Age.

    Science.gov (United States)

    Wong, Jen D; Shobo, Yetunde

    2017-07-01

    Guided by the life-course perspective, this study contributes to the family caregiving, aging, and disability literature by examining the daily experiences of three types of family caregivers in midlife and late adulthood. A sample of 162 caregivers from the National Survey of Midlife in the United States study completed interviews, questionnaires, and a Daily Diary Study. Multilevel models showed the patterns of daily time use did not differ by caregiver types. Caregivers of sons/daughters with developmental disabilities (DD) experienced more daily stressors than caregivers of parents with health conditions (HC) and caregivers of spouses with HC. Unmarried caregivers of sons/daughters with DD reported spending more time on daily leisure activities and exhibited greater daily stressor exposure than other family caregivers. Age did not moderate the associations between caregiver types and daily experiences. Findings highlight the important consideration of the caregivers' characteristics to better determine the quality of their daily experiences in midlife and late adulthood.

  15. Types of analysis of trompenaar's (1994 organizational culture prevailing in the area of controllership in family businesses in textile industry

    Directory of Open Access Journals (Sweden)

    Vanderlei dos Santos

    2010-01-01

    Full Text Available The study aims to identify the types of analysis of Trompenaar's (1994 organizational culture prevailing in the area of controllership in family businesses in textile industry. Descriptive research was performed, with quantitative and qualitative approach, using a multiple case study. Data were collected through interviews with the controller of the companies. In the four basic culture types suggested by Trompenaars (1994, it is concluded that there isn´t a pure kind, but there is a strong presence of family culture among the companies surveyed in dimensions relationship between employees, attitude in relation to the ways of change, forms of motivation and reward

  16. Hereditary motor and sensory neuropathy Lom type in a Serbian family.

    Science.gov (United States)

    Dacković, J; Keckarević-Marković, M; Komazec, Z; Rakocević-Stojanović, V; Lavrnić, D; Stević, Z; Ribarić, K; Romac, S; Apostolski, S

    2008-10-01

    Hereditary motor and sensory neuropathy Lom type (HMSNL), also called CMT 4D, a hereditary autosomal recessive neuropathy, caused by mutation in N-Myc downstream regulated gene 1 (NDRG1 gene), was first described in a Bulgarian Gypsy population near Lom and later has been found in Gypsy communities in Italy, Spain, Slovenia and Hungary. We present two siblings with HMSNL, female and male, aged 30 and 26, respectively in a Serbian non-consanguineous family of Gypsy ethnic origin. They had normal developmental milestones. Both had symptoms of lower limb muscle weakness and walking difficulties with frequent falls, which began at the age of seven. At the age of 12, they developed hearing problems and at the age of 15 hand muscle weakness. Neurological examination revealed sensorineural hearing loss, dysarthria, severe distal and mild proximal muscle wasting and weakness, areflexia and impairment of all sensory modalities of distal distribution. Electrophysiological study revealed denervation with severe and early axonal loss. Sensorineural hearing loss was confirmed on electrocochleography and brainstem evoked potentials. Molecular genetic testing confirmed homozygote C564t (R148X) mutation in NDRG1 gene.

  17. Low serum adiponectin levels in Korean children with a family history of type 2 diabetes mellitus.

    Science.gov (United States)

    Oh, Yeon Joung; Nam, Hyo-Kyoung; Rhie, Young Jun; Park, Sang Hee; Lee, Kee-Hyoung

    2012-01-01

    The current worldwide increases of type 2 diabetes mellitus (T2DM) in children coincide with increases in the prevalence of obesity. We investigated the insulin resistance and adiponectin levels of children and adolescents with a family history of T2DM (FHD). Our sample included 131 children and adolescents aged 8-15 years. Fasting plasma glucose, lipids, fasting insulin, adiponectin levels and HOMA-IR were analyzed according to FHD and obesity. Oral glucose tolerance tests were performed in all subjects except non-obese subjects without FHD. Adiponectin levels of subjects with FHD were significantly lower than those of subjects without FHD in both the obese and nonobese groups. HOMA-IR was significantly higher in obese subjects with FHD than in those without FHD. Adiponectin levels were found to be independently associated with FHD and Matsuda index. The frequency of impaired glucose tolerance in obese subjects with FHD was more than four times higher compared to obese subjects without FHD. Our results suggest that FHD could be a risk factor of T2DM in obese Korean children, especially with low serum levels of adiponectin.

  18. Point mutation in the MITF gene causing Waardenburg syndrome type II in a three-generation Indian family.

    Science.gov (United States)

    Lalwani, A K; Attaie, A; Randolph, F T; Deshmukh, D; Wang, C; Mhatre, A; Wilcox, E

    1998-12-04

    Waardenburg syndrome (WS) is an autosomal-dominant neural crest cell disorder phenotypically characterized by hearing impairment and disturbance of pigmentation. A presence of dystopia canthorum is indicative of WS type 1, caused by loss of function mutation in the PAX3 gene. In contrast, type 2 WS (WS2) is characterized by normally placed medial canthi and is genetically heterogeneous; mutations in MITF (microphthalmia associated transcription factor) associated with WS2 have been identified in some but not all affected families. Here, we report on a three-generation Indian family with a point mutation in the MITF gene causing WS2. This mutation, initially reported in a Northern European family, creates a stop codon in exon 7 and is predicted to result in a truncated protein lacking the HLH-Zip or Zip structure necessary for normal interaction with its target DNA motif. Comparison of the phenotype between the two families demonstrates a significant difference in pigmentary disturbance of the eye. This family, with the first documented case of two unrelated WS2 families harboring identical mutations, provides additional evidence for the importance of genetic background on the clinical phenotype.

  19. Cardiovascular Risk in Primary Hyperaldosteronism

    NARCIS (Netherlands)

    Prejbisz, A.; Warchol-Celinska, E.; Lenders, J.W.M.; Januszewicz, A.

    2015-01-01

    After the first cases of primary aldosteronism were described and characterized by Conn, a substantial body of experimental and clinical evidence about the long-term effects of excess aldosterone on the cardiovascular system was gathered over the last 5 decades. The prevalence of primary

  20. Cardiovascular Risk in Primary Hyperaldosteronism.

    Science.gov (United States)

    Prejbisz, A; Warchoł-Celińska, E; Lenders, J W M; Januszewicz, A

    2015-12-01

    After the first cases of primary aldosteronism were described and characterized by Conn, a substantial body of experimental and clinical evidence about the long-term effects of excess aldosterone on the cardiovascular system was gathered over the last 5 decades. The prevalence of primary aldosteronism varies considerably between different studies among hypertensive patients, depending on patient selection, the used diagnostic methods, and the severity of hypertension. Prevalence rates vary from 4.6 to 16.6% in those studies in which confirmatory tests to diagnose primary aldosteronism were used. There is also growing evidence indicating that prolonged exposure to elevated aldosterone concentrations is associated with target organ damage in the heart, kidney, and arterial wall, and high cardiovascular risk in patients with primary aldosteronism. Therefore, the aim of treatment should not be confined to BP normalization and hypokalemia correction, but rather should focus on restoring the deleterious effects of excess aldosterone on the cardiovascular system. Current evidence convincingly demonstrates that both surgical and medical treatment strategies beneficially affect cardiovascular outcomes and mortality in the long term. Further studies can be expected to provide better insight into the relationship between cardiovascular risk and complications and the genetic background of primary aldosteronism. © Georg Thieme Verlag KG Stuttgart · New York.

  1. Diabetes education for children with type 1 diabetes mellitus and their families.

    Science.gov (United States)

    Couch, Robert; Jetha, Mary; Dryden, Donna M; Hooten, Nicola; Liang, Yuanyuan; Durec, Tamara; Sumamo, Elizabeth; Spooner, Carol; Milne, Andrea; O'Gorman, Kate; Klassen, Terry P

    2008-04-01

    To determine the effectiveness of diabetes education on metabolic control, diabetes-related hospitalizations, complications, and knowledge, quality of life and other psychosocial outcomes for children with type 1 diabetes and their families. A systematic and comprehensive literature review was conducted in 21 electronic databases of medical and health education literature to identify randomized controlled trials (RCTs) and observational studies evaluating the effectiveness of diabetes education. Study selection, quality assessment, and data extraction were conducted independently by several investigators in duplicate. A descriptive analysis is presented. From 12,756 citations, 80 studies were identified and included in the review (53 RCTs or CCTs, 27 observational studies). The methodological quality of studies was generally low. Most studies (35/52) that examined the effect of educational interventions on HbA1c found no evidence of increased effectiveness of the interventions over the education provided as part of standard care. Successful interventions were heterogeneous and included cognitive behavioral therapy, family therapy, skills training and general diabetes education. Most studies reported a positive effect on health service utilization (i.e., reduced use), although less than half were statistically significant. There was no clear evidence that educational interventions had an effect on short-term complications. The effect of educational interventions on diabetes knowledge was unclear with 12/30 studies reporting a significant improvement. Interventions which had varying effects on knowledge scores included diabetes camp, general diabetes education, and cognitive behavioral therapy. In the area of self management/regimen adherence, 10/21 studies reported improving this outcome significantly. Successful interventions included general diabetes education and cognitive behavioral therapy. Educational interventions were successful in improving various

  2. A Systematic Review: Family Support Integrated with Diabetes Self-Management among Uncontrolled Type II Diabetes Mellitus Patients

    Directory of Open Access Journals (Sweden)

    Rian Adi Pamungkas

    2017-09-01

    Full Text Available The rate of type-2 diabetes mellitus (T2D is dramatically increasing worldwide. Continuing diabetes mellitus (DM care needs effective self-management education and support for both patients and family members. This study aimed to review and describe the impacts of diabetes mellitus self-management education (DSME that involve family members on patient outcomes related to patient health behaviors and perceived self-efficacy on self-management such as medication adherence, blood glucose monitoring, diet and exercise changes, health outcomes including psychological well-being and self-efficacy, and physiological markers including body mass index, level of blood pressure, cholesterol level and glycemic control. Three databases, PubMed, CINAHL, and Scopus were reviewed for relevant articles. The search terms were “type 2 diabetes,” “self-management,” “diabetes self-management education (DSME,” “family support,” “social support,” and “uncontrolled glycaemia.” Joanna Briggs Institute (JBI guidelines were used to determine which studies to include in the review. Details of the family support components of DSME intervention and the impacts of these interventions had on improving the health outcomes patients with uncontrolled glycaemia patients. A total of 22 intervention studies were identified. These studies involved different DSME strategies, different components of family support provided, and different health outcomes to be measured among T2D patients. Overall, family support had a positive impact on healthy diet, increased perceived support, higher self-efficacy, improved psychological well-being and better glycemic control. This systematic review found evidence that DSME with family support improved self-management behaviors and health outcomes among uncontrolled glycaemia T2D patients. The findings suggest DSME models that include family engagement can be a useful direction for improving diabetes care.

  3. A Systematic Review: Family Support Integrated with Diabetes Self-Management among Uncontrolled Type II Diabetes Mellitus Patients.

    Science.gov (United States)

    Pamungkas, Rian Adi; Chamroonsawasdi, Kanittha; Vatanasomboon, Paranee

    2017-09-15

    The rate of type-2 diabetes mellitus (T2D) is dramatically increasing worldwide. Continuing diabetes mellitus (DM) care needs effective self-management education and support for both patients and family members. This study aimed to review and describe the impacts of diabetes mellitus self-management education (DSME) that involve family members on patient outcomes related to patient health behaviors and perceived self-efficacy on self-management such as medication adherence, blood glucose monitoring, diet and exercise changes, health outcomes including psychological well-being and self-efficacy, and physiological markers including body mass index, level of blood pressure, cholesterol level and glycemic control. Three databases, PubMed, CINAHL, and Scopus were reviewed for relevant articles. The search terms were "type 2 diabetes," "self-management," "diabetes self-management education (DSME)," "family support," "social support," and "uncontrolled glycaemia." Joanna Briggs Institute (JBI) guidelines were used to determine which studies to include in the review. Details of the family support components of DSME intervention and the impacts of these interventions had on improving the health outcomes patients with uncontrolled glycaemia patients. A total of 22 intervention studies were identified. These studies involved different DSME strategies, different components of family support provided, and different health outcomes to be measured among T2D patients. Overall, family support had a positive impact on healthy diet, increased perceived support, higher self-efficacy, improved psychological well-being and better glycemic control. This systematic review found evidence that DSME with family support improved self-management behaviors and health outcomes among uncontrolled glycaemia T2D patients. The findings suggest DSME models that include family engagement can be a useful direction for improving diabetes care.

  4. Multiple endocrine neoplasia phenocopy revealed as a co-occurring neuroendocrine tumor and familial hypocalciuric hypercalcemia type 3

    DEFF Research Database (Denmark)

    Hovden, Silje; Jespersen, Marie Louise; Nissen, Peter H

    2016-01-01

    Familial hypocalciuric hypercalcemia type 3 should be considered as differential diagnosis in patients with suspected primary hyperparathyroidism and/or suspected multiple neoplasia syndrome, as correct diagnosis will spare the patients for going through multiple futile parathyroidectomies...... and for the worry of being diagnosed with a cancer susceptibility syndrome....

  5. Glutamate-system defects behind psychiatric manifestations in a familial hemiplegic migraine type 2 disease-mutation mouse model

    DEFF Research Database (Denmark)

    Bøttger, Pernille; Pedersen, Simon Glerup; Gesslein, Bodil

    2016-01-01

    Migraine is a complex brain disorder, and understanding the complexity of this prevalent disease could improve quality of life for millions of people. Familial Hemiplegic Migraine type 2 (FHM2) is a subtype of migraine with aura and co-morbidities like epilepsy/seizures, cognitive impairments...

  6. The association of age, gender, ethnicity, family history, obesity and hypertension with type 2 diabetes mellitus in Trinidad.

    Science.gov (United States)

    Nayak, B Shivananda; Sobrian, Arianne; Latiff, Khalif; Pope, Danielle; Rampersad, Akash; Lourenço, Kodi; Samuel, Nichole

    2014-01-01

    To assess the impact of risk factors such as age, gender, ethnicity, family history, body mass index (BMI), waist circumference and hypertension, on the development of type 2 diabetes mellitus in the Trinidadian population. A cross-sectional case control study comprised 146 non-diabetics and 147 type 2 diabetics ≥18 years of age, from North Central, South West and Eastern regions of Trinidad. Cross-tabulations revealed a significant difference between type 2-diabetes and age at pdiabetes and family history, ethnicity, waist circumference and hypertension at pdiabetics and type 2 diabetics being, 130.62 (±2.124) and 141.35 (±2.312), respectively. No significant difference was observed between type 2 diabetes and gender and BMI. Age was the most significant risk factor of type 2 diabetes. Therefore it can be concluded that family history, ethnicity, waist circumference and hypertension are more significant risk factors of this disease than BMI and gender in the Trinidadian population. Copyright © 2014 Diabetes India. Published by Elsevier Ltd. All rights reserved.

  7. Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families.

    Science.gov (United States)

    Wang, Li; Qin, Litao; Li, Tao; Liu, Hongjian; Ma, Lingcao; Li, Wan; Wu, Dong; Wang, Hongdan; Guo, Qiannan; Guo, Liangjie; Liao, Shixiu

    2018-01-01

    Waardenburg syndrome (WS) is an auditory‑pigmentary disorder with varying combinations of sensorineural hearing loss and abnormal pigmentation. The present study aimed to investigate the underlying molecular pathology and provide a method of prenatal diagnosis of WS in Chinese families. A total of 11 patients with WS from five unrelated Chinese families were enrolled. A thorough clinical examination was performed on all participants. Furthermore, patients with WS underwent screening for mutations in the following genes: Paired box 3 (PAX3), melanogenesis associated transcription factor (MITF), SRY‑box 10, snail family transcriptional repressor 2 and endothelin receptor type B using polymerase chain reaction sequencing. Array‑based comparative genomic hybridization was used for specific patients whose sequence results were normal. Following identification of the genotype of the probands and their parents, prenatal genetic diagnosis was performed for family 01 and 05. According to the diagnostic criteria for WS, five cases were diagnosed as WS1, while the other six cases were WS2. Genetic analysis revealed three mutations, including a nonsense mutation PAX3 c.583C>T in family 01, a splice‑site mutation MITF c.909G>A in family 03 and an in‑frame deletion MITF c.649_651delGAA in family 05. To the best of the authors' knowledge the mutations (c.583C>T in PAX3 and c.909G>A in MITF) were reported for the first time in Chinese people. Mutations in the gene of interest were not identified in family 02 and 04. The prenatal genetic testing of the two fetuses was carried out and demonstrated that the two babies were normal. The results of the present study expanded the range of known genetic mutations in China. Identification of genetic mutations in these families provided an efficient way to understand the causes of WS and improved genetic counseling.

  8. Bouncing forward: families living with a type I diabetic child | Brown ...

    African Journals Online (AJOL)

    ... Despite the multitude of challenges that families living with a child with diabetes face, they have been found to adapt to such an extent that diabetes is viewed as a manageable condition. This study was concerned with the factors that enable these families to adapt. The internationally acclaimed Resiliency Model of Stress, ...

  9. Increased susceptibility to cortical spreading depression in the mouse model of familial hemiplegic migraine type 2.

    Directory of Open Access Journals (Sweden)

    Loredana Leo

    2011-06-01

    Full Text Available Familial hemiplegic migraine type 2 (FHM2 is an autosomal dominant form of migraine with aura that is caused by mutations of the α2-subunit of the Na,K-ATPase, an isoform almost exclusively expressed in astrocytes in the adult brain. We generated the first FHM2 knock-in mouse model carrying the human W887R mutation in the Atp1a2 orthologous gene. Homozygous Atp1a2(R887/R887 mutants died just after birth, while heterozygous Atp1a2(+/R887 mice showed no apparent clinical phenotype. The mutant α2 Na,K-ATPase protein was barely detectable in the brain of homozygous mutants and strongly reduced in the brain of heterozygous mutants, likely as a consequence of endoplasmic reticulum retention and subsequent proteasomal degradation, as we demonstrate in transfected cells. In vivo analysis of cortical spreading depression (CSD, the phenomenon underlying migraine aura, revealed a decreased induction threshold and an increased velocity of propagation in the heterozygous FHM2 mouse. Since several lines of evidence involve a specific role of the glial α2 Na,K pump in active reuptake of glutamate from the synaptic cleft, we hypothesize that CSD facilitation in the FHM2 mouse model is sustained by inefficient glutamate clearance by astrocytes and consequent increased cortical excitatory neurotransmission. The demonstration that FHM2 and FHM1 mutations share the ability to facilitate induction and propagation of CSD in mouse models further support the role of CSD as a key migraine trigger.

  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. Quantitative whole-body MRI in familial partial lipodystrophy type 2: changes in adipose tissue distribution coincide with biochemical improvement.

    LENUS (Irish Health Repository)

    McLaughlin, Patrick D

    2012-11-01

    OBJECTIVE: Familial partial lipodystrophy type 2 (Online Mendelian Inheritance in Man no. 151660) is a systemic disorder characterized by regional lipoatrophy and lipohypertrophy, severe insulin resistance, and early cardiovascular death. At initial presentation, whole-body MRI allows the radiologist to accurately characterize patients with familial partial lipodystrophy and helps differentiate familial partial lipodystrophy from many other subtypes of lipodystophy. We present the findings of serial quantitative MRI analysis in two patients with familial partial lipodystrophy type 2 and outline the objective imaging changes that occur during medical therapy with oral rosiglitazone. CONCLUSION: Cervical adipose volume and visceral adipose area increased by 105% and 60% in the two patients and hepatic fat fraction decreased by 55% during a 21-month period of medical therapy. These changes coincided with a decrease in biochemical indexes of insulin resistance. Whole body quantitative MRI may therefore help to demonstrate the subclinical changes in fat deposition that occur as a result of novel treatment of familial partial lipodystrophy and with continued research may play a role in guiding the choice, duration, and intensity of novel medical therapy.

  12. A novel missense mutation of the paired box 3 gene in a Turkish family with Waardenburg syndrome type 1.

    Science.gov (United States)

    Hazan, Filiz; Ozturk, A Taylan; Adibelli, Hamit; Unal, Nurettin; Tukun, Ajlan

    2013-01-01

    Screening of mutations in the paired box 3 (PAX3) gene in three generations of a Turkish family with Waardenburg syndrome type 1 (WS1). WS1 was diagnosed in a 13-month-old girl according to the WS Consortium criteria. Detailed family history of the proband revealed eight affected members in three generations. Routine clinical and audiological examination and ophthalmologic evaluation were performed on eight affected and five healthy members of the study family. Dystopia canthorum was detected in all affected patients; however, a brilliant blue iris was present in five patients who also had mild retinal hypopigmentation. Genomic DNA was extracted from the peripheral blood of affected and unaffected individuals in the family as well as 50 unrelated healthy volunteers. All coding exons and adjacent intronic regions of PAX3 were sequenced directly. A novel missense heterozygous c.788T>G mutation was identified in eight patients. This nucleotide alteration was not found in unaffected members of the study family or in the 50 unrelated control subjects. The mutation causes V263G amino-acid substitution in the homeodomain of the PAX3 protein, which represents the 45(th) residue of helix 3. We identified a novel missense c.788T>G mutation in PAX3 in a family with Waardenburg syndrome with intrafamilial phenotypic heterogeneity.

  13. The major megadrile families of th e World reviewed again on their taxonomic types (Annelida: Oligochaeta: Megadrilacea

    Directory of Open Access Journals (Sweden)

    Blakemore, R. J.

    2013-11-01

    Full Text Available A critique of recent clado-molecular phylogenies notes shortcomings of starting materials, methods applied, and,therefore, their conclusions; hence this review. A new group, Exquisiclitellata, is newly defined as those ‘non-crassiclitellate’members of the superorder Megadrilacea (viz., Moniligastridae Claus, 1880, plus Alluroididae Michaelsen, 1900 andSyngenodrilidae Smith & Green, 1919. Support for restitution and elevation of American Diplocardiinae Michaelsen, 1900and Argilophilini Fender & McKey-Fender, 1990 are again raised. ICZN priority requires revival of Typhoeus Beddard, 1883over synonym Eutyphoeus Michaelsen, 1900 and the sub-family Typhoeinae (corr. of Typhaeinae Benham, 1890 is reestablished.Hoplochaetellinae sub-family nov. is proposed as a development of Octochaetidae s. lato in India.Wegeneriellinae sub-fam. nov. accommodates the holoic members of a restricted Neogastrini Csuzdi, 1996 from W. Africaand S. America. Caribbean family Exxidae Blakemore, 2000 and related Trigastrinae Michaelsen, 1900 are both retained. Acontingency table of Megascolecidae s. stricto sub-families and types is presented with some revived and a few new subfamiliesproposed, particularly from Australasia. These are Diporochaetinae, Megascolidesinae, Celeriellinae, andWoodwardiellinae sub-fams. nov. Synonymy of Perichaetidae Claus, 1880 over Megascolecidae Rosa, 1891 is deferred forreasons of nomenclatural stability. For the large African family Eudrilidae Claus, 1880, a new sub-family, Polytoreutinae, isadvanced and the status of abandoned Teleudrilini Michaelsen, 1891 and overlooked Hippoperidae Taylor, 1949 are noted.

  14. The multi-faceted outcomes of conjunct diabetes and cardiovascular familial history in type 2 diabetes.

    Science.gov (United States)

    Hermans, Michel P; Ahn, Sylvie A; Rousseau, Michel F

    2012-01-01

    Familial history of early-onset CHD (EOCHD) is a major risk factor for CHD. Familial diabetes history (FDH) impacts β-cell function. Some transmissible, accretional gradient of CHD risk may exist when diabetes and EOCHD familial histories combine. We investigated whether the impact of such combination is neutral, additive, or potentiating in T2DM descendants, as regards cardiometabolic phenotype, glucose homeostasis and micro-/macroangiopathies. Cross-sectional retrospective cohort study of 796 T2DM divided according to presence (Diab[+]) or absence (Diab[-]) of 1st-degree diabetes familial history and/or EOCHD (CVD(+) and (-)). Four subgroups: (i) [Diab(-)CVD(-)] (n=355); (ii) [Diab(+)CVD(-)] (n=338); (iii) [Diab(-)CVD(+)] (n=47); and (iv) [Diab(+)CVD(+)] (n=56). No interaction on subgroup distribution between presence of both familial histories, the combination of which translated into additive detrimental outcomes and higher rates of fat mass, sarcopenia, (hs)CRP and retinopathy. FDH(+) had lower insulinemia, insulin secretion, hyperbolic product, and accelerated hyperbolic product loss. An EOCHD family history affected neither insulin secretion nor sensitivity. There were significant differences regarding macroangiopathy/CAD, more prevalent in [Diab(-)CVD(+)] and [Diab(+)CVD(+)]. Among CVD(+), the highest macroangiopathy prevalence was observed in [Diab(-)CVD(+)], who had 66% macroangiopathy, and 57% CAD, rates higher (absolute-relative) by 23%-53% (overall) and 21%-58% (CAD) than [Diab(+)CVD(+)], who inherited the direst cardiometabolic familial history (p 0.0288 and 0.0310). A parental history for diabetes markedly affects residual insulin secretion and secretory loss rate in T2DM offspring without worsening insulin resistance. It paradoxically translated into lower macroangiopathy with concurrent familial EOCHD. Conjunct diabetes and CV familial histories generate multi-faceted vascular outcomes in offspring, including lesser macroangiopathy/CAD. Copyright

  15. Ala397Asp mutation of myosin VIIA gene segregating in a Spanish family with type-Ib Usher syndrome.

    Science.gov (United States)

    Espinós, C; Millán, J M; Sánchez, F; Beneyto, M; Nájera, C

    1998-06-01

    In the current study, 12 Spanish families affected by type-I Usher syndrome, that was previously linked to chromosome 11q, were screened for the presence of mutations in the N-terminal coding portion of the motor domain of the myosin VIIA gene by single-strand conformation polymorphism analysis of the first 14 exons. A mutation (Ala397Asp) segregating with the disease was identified, and several polymorphisms were also detected. It is presumed that the other USHIB mutations in these families could be located in the unscreened regions of the gene.

  16. HLA non-class II genes may confer type I diabetes susceptibility in a Mapuche (Amerindian) affected family.

    Science.gov (United States)

    Pérez-Bravo, Francisco; Martinez-Laso, Jorge; Martin-Villa, Jose M; Moscoso, Juan; Moreno, Almudena; Serrano-Vela, Juan I; Zamora, Jorge; Asenjo, Silvia; Gleisner, Andrea; Arnaiz-Villena, Antonio

    2006-01-01

    A rare case of type I diabetes is studied in an Amerindian (Mapuche) family from Chile, analyzing glutamic acid decarboxylase, islet-cell autoantibodies and human leukocyte antigen (HLA) genes. The affected sib is the only one that has one specific HLA haplotype combination that differs from the other sibs only in the HLA class I genes. It is concluded that HLA diabetes susceptibility factors may be placed outside the class II region or even that susceptibility factors do not exist in the HLA region in this Amerindian family.

  17. Novel mutations of MYO7A and USH1G in Israeli Arab families with Usher syndrome type 1.

    Science.gov (United States)

    Rizel, Leah; Safieh, Christine; Shalev, Stavit A; Mezer, Eedy; Jabaly-Habib, Haneen; Ben-Neriah, Ziva; Chervinsky, Elena; Briscoe, Daniel; Ben-Yosef, Tamar

    2011-01-01

    This study investigated the genetic basis for Usher syndrome type 1 (USH1) in four consanguineous Israeli Arab families. Haplotype analysis for all known USH1 loci was performed in each family. In families for which haplotype analysis was inconclusive, we performed genome-wide homozygosity mapping using a single nucleotide polymorphism (SNP) array. For mutation analysis, specific primers were used to PCR amplify the coding exons of the MYO7A, USH1C, and USH1G genes including intron-exon boundaries. Mutation screening was performed with direct sequencing. A combination of haplotype analysis and genome-wide homozygosity mapping indicated linkage to the USH1B locus in two families, USH1C in one family and USH1G in another family. Sequence analysis of the relevant genes (MYO7A, USH1C, and USH1G) led to the identification of pathogenic mutations in all families. Two of the identified mutations are novel (c.1135-1147dup in MYO7A and c.206-207insC in USH1G). USH1 is a genetically heterogenous condition. Of the five USH1 genes identified to date, USH1C and USH1G are the rarest contributors to USH1 etiology worldwide. It is therefore interesting that two of the four Israeli Arab families reported here have mutations in these two genes. This finding further demonstrates the unique genetic structure of the Israeli population in general, and the Israeli Arab population in particular, which due to high rates of consanguinity segregates many rare autosomal recessive genetic conditions.

  18. Genomewide analysis of MATE-type gene family in maize reveals ...

    Indian Academy of Sciences (India)

    Huasheng Zhu and Jiandong Wu contributed equally to this work. As a group of secondary active transporters, the MATE gene family consists of multiple genes that widely exist in ..... Roots of the stress-treated plants were collected at 0,.

  19. De novo dominant mutation of SOX10 gene in a Chinese family with Waardenburg syndrome type II.

    Science.gov (United States)

    Chen, Kaitian; Zong, Ling; Liu, Min; Zhan, Yuan; Wu, Xuan; Zou, Wenting; Jiang, Hongyan

    2014-06-01

    Waardenburg syndrome is a rare genetic disorder, inherited as an autosomal dominant trait. The condition is characterized by sensorineural hearing loss and pigment disturbances of the hair, skin, and iris. The de novo mutation in the SOX10 gene, responsible for Waardenburg syndrome type II, is rarely seen. The present study aimed to identify the genetic causes of Waardenburg syndrome type II in a Chinese family. Clinical and molecular evaluations were conducted in a Chinese family with Waardenburg syndrome type II. A novel SOX10 heterozygous c.259-260delCT mutation was identified. Heterozygosity was not observed in the parents and sister of the proband, indicating that the mutation has arisen de novo. The novel frameshift mutation, located in exon 3 of the SOX10 gene, disrupted normal amino acid coding from Leu87, leading to premature termination at nucleotide 396 (TGA). The high mobility group domain of SOX10 was inferred to be partially impaired. The novel heterozygous c.259-260delCT mutation in the SOX10 gene was considered to be the cause of Waardenburg syndrome in the proband. The clinical and genetic characterization of this family would help elucidate the genetic heterogeneity of SOX10 in Waardenburg syndrome type II. Moreover, the de novo pattern expanded the mutation data of SOX10. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  20. The relationship of family history and risk of type 2 diabetes differs by ancestry.

    Science.gov (United States)

    Kral, B G; Becker, D M; Yanek, L R; Vaidya, D; Mathias, R A; Becker, L C; Kalyani, R R

    2018-05-21

    Type 2 diabetes (T2DM) in a first-degree relative is a risk factor for incident diabetes. Americans of African ancestry (AA) have higher rates of T2DM than Americans of European ancestry (EA). Thus, we aimed to determine whether the presence, number and kinship of affected relatives are associated with race-specific T2DM incidence in a prospective study of participants from the Genetic Study of Atherosclerosis Risk (GeneSTAR), who underwent baseline screening including a detailed family history. Nondiabetic healthy siblings (n=1405) of patients with early-onset coronary artery disease (18-59 years) were enrolled (861 EA and 544 AA) and followed for incident T2DM (mean 14±6 years). Baseline age was 46.2±7.3 years and 56% were female. T2DM occurred in 12.3% of EA and 19.1% of AA. Among EA, 32.6% had ≥1 affected first-degree relatives versus 53.1% in AA, Phistory was related to incident T2DM in EA (HR=2.53, 95% CI: 1.58-4.06) but not in AA (HR=1.01, 0.67-1.53). The number of affected relatives conferred incremental risk of T2DM in EA with HR=1.82 (1.08-3.06), 4.83 (2.15-10.85) and 8.46 (3.09-23.91) for 1, 2, and ≥3 affected, respectively. In AA only ≥3 affected increased risk (HR=2.45, 1.44-4.19). Specific kinship patterns were associated with incident T2DM in EA but not in AA. The presence of any first-degree relative with T2DM does not discriminate risk in AA given the high race-specific prevalence of diabetes. Accounting for the number of affected relatives may more appropriately estimate risk for incident diabetes in both races. Copyright © 2018 Elsevier Masson SAS. All rights reserved.

  1. Hereditary sensory and autonomic neuropathy type I in a Chinese family: British C133W mutation exists in the Chinese.

    Science.gov (United States)

    Bi, Hongyan; Gao, Yunying; Yao, Sheng; Dong, Mingrui; Headley, Alexander Peter; Yuan, Yun

    2007-10-01

    Hereditary sensory and autonomic neuropathy type I (HSAN I) is an autosomal dominant disorder of the peripheral nervous system characterized by marked progressive sensory loss, with variable autonomic and motor involvement. The HSAN I locus maps to chromosome 9q22.1-22.3 and is caused by mutations in the gene coding for serine palmitoyltransferase long chain base subunit 1 (SPTLC1). Sequencing in HSAN I families have previously identified mutations in exons 5, 6 and 13 of this gene. Here we report the clinical, electrophysiological and pathological findings of a proband in a Chinese family with HSAN I. The affected members showed almost typical clinical features. Electrophysiological findings showed an axonal, predominantly sensory, neuropathy with motor and autonomic involvement. Sural nerve biopsy showed loss of myelinated and unmyelinated fibers. SPTLC1 mutational analysis revealed the C133W mutation, a mutation common in British HSAN I families.

  2. Dermal Ultrastructure in Low Beighton Score Members of 17 Families with Hypermobile-Type Ehlers-Danlos Syndrome

    Science.gov (United States)

    Hermanns-Lê, Trinh; Reginster, Marie-Annick; Piérard-Franchimont, Claudine; Delvenne, Philippe; Piérard, Gérald E.; Manicourt, Daniel

    2012-01-01

    The distinction between the Ehlers-Danlos syndrome hypermobile type (EDSH) and the benign joint hypermobility syndrome (BJHS) is unclear. The aim of the present study was to compare skin ultrastructural abnormalities of EDSH and BJHS among different families. Skin of 23 EDSH, 27 BJHS, and 41 asymptomatic subjects from 17 families was examined using transmission electron microscopy. Similar ultrastructural abnormalities were found irrespective of the Beighton score. Flower-like collagen fibrils represented the key change and elastic fibers were altered as well. Beighton score is a clinical parameter rating joint mobility that appeared unrelated to quantitative and qualitative collagen ultrastructural alterations in the skin. Some EDSH family members fit with BJHS diagnosis. BJHS possibly represents a mild variant of EDSH. PMID:23091361

  3. Dermal Ultrastructure in Low Beighton Score Members of 17 Families with Hypermobile-Type Ehlers-Danlos Syndrome

    Directory of Open Access Journals (Sweden)

    Trinh Hermanns-Lê

    2012-01-01

    Full Text Available The distinction between the Ehlers-Danlos syndrome hypermobile type (EDSH and the benign joint hypermobility syndrome (BJHS is unclear. The aim of the present study was to compare skin ultrastructural abnormalities of EDSH and BJHS among different families. Skin of 23 EDSH, 27 BJHS, and 41 asymptomatic subjects from 17 families was examined using transmission electron microscopy. Similar ultrastructural abnormalities were found irrespective of the Beighton score. Flower-like collagen fibrils represented the key change and elastic fibers were altered as well. Beighton score is a clinical parameter rating joint mobility that appeared unrelated to quantitative and qualitative collagen ultrastructural alterations in the skin. Some EDSH family members fit with BJHS diagnosis. BJHS possibly represents a mild variant of EDSH.

  4. 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.

  5. Mental Models of Cause and Inheritance for Type 2 Diabetes Among Unaffected Individuals Who Have a Positive Family History.

    Science.gov (United States)

    Daack-Hirsch, Sandra; Shah, Lisa L; Cady, Alyssa D

    2018-03-01

    Using the familial risk perception (FRP) model as a framework, we elicited causal and inheritance explanations for type 2 diabetes (T2D) from people who do not have T2D but have a family history for it. We identified four composite mental models for cause of T2D: (a) purely genetic; (b) purely behavioral/environmental; (c) direct multifactorial, in which risk factors interact and over time directly lead to T2D; and (d) indirect multifactorial, in which risk factors interact and over time cause a precursor health condition (such as obesity or metabolic syndrome) that leads to T2D. Interestingly, participants described specific risk factors such as genetics, food habits, lifestyle, weight, and culture as "running in the family." Our findings provide insight into lay beliefs about T2D that can be used by clinicians to anticipate or make sense of responses to questions they pose to patients about mental models for T2D.

  6. Health information sources for different types of information used by Chinese patients with cancer and their family caregivers.

    Science.gov (United States)

    Xie, Bo; Su, Zhaohui; Liu, Yihao; Wang, Mo; Zhang, Ming

    2017-08-01

    Little is known about the information sources of Chinese patients with cancer and their family caregivers, yet this knowledge is critical for providing patient-centred care. To assess and compare the information sources used by Chinese patients with cancer and their family caregivers. The validated Health Information Wants Questionnaire (HIWQ) was translated and administered in March 2014. The oncology department of a general hospital in south-west China. A convenience sample of 198 individuals, including 79 patients with cancer (mean age=55.24, SD=13.80) and 119 family caregivers (mean age=46.83, SD=14.61). Ratings on the HIWQ items assessing information sources for different types of information. The interaction between information source and group was significant (F 3,576 =6.32, Pinformation than patients from the Internet. Caregivers and patients did not differ in the amount of information they obtained from doctors/nurses, interpersonal contacts or mass media. The interaction between information type and information source was significant (F 18,3456 =6.38, Pinformation of all types from doctors/nurses than from the other three sources and obtained more information from interpersonal contacts than from mass media or the Internet. The information sources of Chinese patients with cancer and their family caregivers were similar, with an important difference that caregivers obtained more online information than patients. These findings have important implications for patient care and education in China where the family typically plays a major role in the care and decision making. © 2016 The Authors. Health Expectations Published by John Wiley & Sons Ltd.

  7. New views for sustainable production in family agriculture: Assessment of American lettuce cultivated with different types of organic fertilizers

    Directory of Open Access Journals (Sweden)

    Renan Borro Celestrino

    2017-07-01

    Full Text Available The general objective of this work was to evaluate the response of the American Lettuce to its development, using different types of organic fertilizers. Specifically, the objective was to outline the potential market for this type of food with agroecological production, with emphasis on small producers of family agriculture and to seek alternatives for legal marketing of organic products through family farming, based on Law 10.831/2003. Data collection on lettuce response to fertilization was completely randomized, with five treatments and four repetitions. It is a descriptive, exploratory research. Through a bibliographical survey, it was concluded that the insertion in the system of agroecological-organic production is opportune to establish competitiveness in family farming, in the primary productive sector of the production chain of olericulture, where the American Lettuce is among the main cultivated varieties. It was observed that the fertilization with manure of hardened chicken showed a higher development of lettuce in relation to other treatments. The consumer market confirms a demand for healthy food with the focus on vegetables. For legal marketing, organic food needs to get a special seal. Brazilian legislation establishes three guarantee instruments: third-party certification, participatory guarantee systems and social control for direct sale without certification. This last recommended for family farmers.

  8. Identification of a missense mutation in the tyrosinase gene in a Chinese family with oculocutaneous albinism type 1.

    Science.gov (United States)

    Lu, Qian; Yuan, Lamei; Xu, Hongbo; Huang, Xiangjun; Yang, Zhijian; Yi, Junhui; Ni, Bin; Chen, Yong; Deng, Hao

    2017-03-01

    Oculocutaneous albinism (OCA) is a group of heterogeneous and autosomal recessive disorders characterized by a reduction or complete loss of melanin biosynthesis in melanocytes. OCA type 1 (OCA1) is the most severe and common form of OCA, and is caused by mutations in the tyrosinase gene (TYR). The present study aimed to identify the genetic cause of OCA1 in a four‑generation consanguineous Chinese Han family. Complete physical examinations were performed and blood samples were collected from five members of the family and 100 unrelated healthy controls. Exome sequencing was conducted in the proband, followed by verification in other family members, using Sanger sequencing. Patients in the family presented with typical OCA1 features, including hypopigmentation of the skin and hair, and distinctive ocular changes. A homozygous missense variant, c.896G>A (p.R299H), in the TYR gene was identified in two patients, which co‑segregated with disease in the family. This variant was not present in the 100 healthy controls. These results expand the number of mutations identified to be responsible for OCA1 in the Chinese Han population, and may have implications for genetic counseling and clinical management of the disease.

  9. Prenatal diagnosis and genetic counseling in a case of spina bifida in a family with Waardenburg syndrome type I.

    Science.gov (United States)

    Kujat, Annegret; Veith, Veit-Peter; Faber, Renaldo; Froster, Ursula G

    2007-01-01

    Waardenburg syndrome type I (WS I) is an autosomal dominant inherited disorder with an incidence of 1:45,000 in Europe. Mutations within the PAX3 gene are responsible for the clinical phenotype ranging from mild facial features to severe malformations detectable in prenatal diagnosis. Here, we report a four-generation family with several affected members showing various symptoms of WS I. We diagnosed the syndrome first in a pregnant young woman; she was referred because of a spina bifida in prenatal diagnosis. We performed clinical genetic investigations and molecular genetic analysis in all available family members. The phenotype displays a wide intra-familial clinical variability of pigmentary disturbances, facial anomalies and developmental defects. Molecular studies identified a novel splice site mutation within the PAX3 gene in intron 5 in all affected family members, but in none of the unaffected relatives. This case demonstrates the prenatal diagnosis of spina bifida in a fetus which leads to the initial diagnosis of WS I. Further studies could identify a private splice site mutation within the PAX3 gene responsible for the phenotype in this family.

  10. 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.

  11. Randomized trial of a diabetes self-management education and family teamwork intervention in adolescents with Type1 diabetes

    DEFF Research Database (Denmark)

    Murphy, H. R.; Wadham, C.; Hassler-Hurst, J.

    2012-01-01

    Aims To evaluate the effectiveness of a family-centred group education programme, in adolescents with Type1 diabetes. Methods Three hundred and five adolescents with Type1 diabetes; age 13.1±1.9years, diabetes duration 5.6±3.3years, BMI 20.9±3.7kg/m 2, HbA 1c 78±6mmol/mol (9.3±1.9%) were randomly...... attendance of group education sessions delivered in routine clinics was a major challenge. More personalized educational approaches may be required to support and motivate families who are struggling to integrate the demands of intensive insulin regimens into their daily lives....

  12. Glutamate-system defects behind psychiatric manifestations in a familial hemiplegic migraine type 2 disease-mutation mouse model

    DEFF Research Database (Denmark)

    Bøttger, Pernille; Pedersen, Simon Glerup; Gesslein, Bodil

    2016-01-01

    Migraine is a complex brain disorder, and understanding the complexity of this prevalent disease could improve quality of life for millions of people. Familial Hemiplegic Migraine type 2 (FHM2) is a subtype of migraine with aura and co-morbidities like epilepsy/seizures, cognitive impairments...... sex hormone cycle and the glutamate system and a link to co-morbid psychiatric manifestations of FHM2....

  13. Moisture supply in Danish single-family houses – the influence of occupant behaviour and type of room

    DEFF Research Database (Denmark)

    Møller, Eva B.; Hansen, Ernst Jan de Place

    2017-01-01

    According to ISO 13788, the internal moisture supply in dwellings can be described by humidity classes defined by outdoor temperature, occupancy and ventilation. Hygrothermal measurements in indoor air in 500 Danish single-family houses were made to investigate if this corresponds with reality....... The study focuses on the dependency of number and age of occupants, occupants’ time spent in the house, square meters living space, ventilation habits and type of room. Moisture supply depends on the type of room; bathroom, basement and living room have the highest values. None of the other parameters seems...

  14. The collection of type specimens of the family Carabidae (Coleoptera deposited in the Natural History Museum of Barcelona, Spain

    Directory of Open Access Journals (Sweden)

    Viñolas, A.

    2014-05-01

    Full Text Available The type collection of the family Carabidae (Coleoptera deposited in the Natural History Museum of Barcelona, Spain, has been organised, revised and documented. It contains 430 type specimens belonging to 155 different taxa. Of note are the large number of hypogean species, the species of Cicindelidae from Asenci Codina’s collection, and the species of Harpalinae extracted from Jacques Nègre’s collection. In this paper we provide all the available information related to these type specimens. We therefore provide the following information for each taxon, species or subspecies: the original and current taxonomic status, original citation of type materials, exact transcription of original labels, and preservation condition of specimens. Moreover, the differences between original descriptions and labels are discussed. When a taxonomic change has occurred, the references that examine those changes are included at the end of the taxa description.

  15. Predictors of associated autoimmune diseases (AAID) in families with type 1 diabetes (T1D). Results from the Type 1 Diabetes Genetics Consortium (T1DGC)

    Science.gov (United States)

    Wägner, Ana M; Santana, Ángelo; Hernández, Marta; Wiebe, Julia C; Nóvoa, Javier; Mauricio, Didac

    2011-01-01

    Background Type 1 diabetes (T1D) is a clinically heterogeneous disease. The presence of associated autoimmune diseases (AAID) may represent a distinct form of autoimmune diabetes, with involvement of specific mechanisms. The aim of this study was to find predictors of AAID in the Type 1 Diabetes Genetics Consortium (T1DGC) data set. Methods 3263 families with at least 2 siblings with T1D were included. Clinical information was obtained using questionnaires, anti-GAD and anti-IA-2 were measured and HLA-genotyping was performed. Siblings with T1D with and without AAID were compared and a multivariate regression analysis was performed to find predictors of AAID. T1D-associated HLA haplotypes were defined as the 4 most susceptible and protective, respectively. Results AAID was present in 14.4% of the T1D affected siblings. Age of diabetes onset, current age and time since diagnosis were higher, and there was a female predominance and more family history of AAID in the group with AAID, as well as more frequent anti-GAD and less frequent anti-IA2 positivity. Risk and protective HLA haplotype distributions were similar, though DRB1*0301-DQA1*0501-DQB1*0201 was more frequent in the group with AAID. In the multivariate analysis, female gender, age of onset, family history of AAID, time since diagnosis and anti-GAD positivity were significantly associated with AAID. Conclusions In patients with T1D, the presence of AAID is associated with female predominance, more frequent family history of AAID, later onset of T1D and more anti-GAD antibodies, despite longer duration of the disease. The predominance of certain HLA haplotypes suggests that specific mechanisms of disease may be involved. PMID:21744463

  16. Longing for belonging: Adolescents' experiences of living with HIV in different types of families in Swaziland

    NARCIS (Netherlands)

    Shabalala, F.S.

    2017-01-01

    This study illuminates adolescents’ everyday life experiences of living with HIV in different family contexts in the Manzini region in Swaziland, and the tactics they used to navigate the social and health system environments in their management of the HIV illness and disease. A significant

  17. Familial temporal lobe epilepsy due to focal cortical dysplasia type IIIa

    Czech Academy of Sciences Publication Activity Database

    Fábera, Petr; Krijtová, H.; Tomášek, M.; Krýsl, D.; Zámečník, J.; Mohapl, M.; Jiruška, Přemysl; Marusič, P.

    2015-01-01

    Roč. 31, Sep 2015 (2015), s. 120-123 ISSN 1059-1311 R&D Projects: GA MZd(CZ) NT14489 Institutional support: RVO:67985823 Keywords : familial temporal lobe epilepsy * focal cortical dysplasia * epilepsy surgery * genetics of epilepsy Subject RIV: FH - Neurology Impact factor: 2.109, year: 2015

  18. Family Caregiving for Patients With Heart Failure : Types of Care Provided and Gender Differences

    NARCIS (Netherlands)

    Hwang, Boyoung; Luttik, Marie Louise; Dracup, Kathleen; Jaarsma, Tiny

    Background: Knowledge about the potential burden for family caregivers related to the care of patients with heart failure (HF) is limited. The aims of the study were to compare the kind and amount of care provided by partners of HF patients and partners of healthy individuals and to examine the

  19. Effects of gender, age, family support, and treatment on perceived stress and coping of patients with type 2 diabetes mellitus.

    Science.gov (United States)

    Hara, Yoriko; Hisatomi, Mizuho; Ito, Hisao; Nakao, Motoyuki; Tsuboi, Koji; Ishihara, Yoko

    2014-01-01

    We previously found that the empowerment of patients with type 2 diabetes mellitus can be strongly affected by gender and age in addition to self-managed diet and exercise behaviors and treatment. This study was to examine the effects of gender, age, family support, and treatment on the perceived stress and coping of patients with type 2 diabetes mellitus living with family. A survey was conducted of 140 adults with type 2 diabetes mellitus who were living with family. There was no significant difference in hemoglobin A1c (HbA1c) between male and female. Perceived stress and coping were measured with the Japanese version of the Appraisal of Diabetes Scale and the Lazarus Type Stress Coping Inventory. Stepwise regression analysis and path analysis were performed to identify factors that affect the perceived stress and coping of patients. (1) Perceived stress and coping were strongly affected by gender. (2) Perceived stress and coping were affected by age for males, but perceived stress was not affected by age for females. However, females showed a greater "psychological impact of diabetes" than did males. Females aged between 50 and 69 years engaged in active problem solving, but awareness of diabetes was low. (3) Treatment regimens had an effect on HbA1c for both sexes, and diet therapy affected the awareness of diabetes of males and coping of females. (4) For females, "sense of self-control" was strongly associated with coping, and those who were living with non-spouse family members had a greater psychological impact of diabetes than those living with only their spouse. (5) For males, coping was strongly affected by living with their spouse. The results suggest that perceived stress, coping, and diet regimen are deeply associated with gender and age and that a male with type 2 diabetes mellitus living with his spouse is strongly dependent on support from the spouse. It is important to take into account gender, age, and family environment to provide patients with

  20. The TAM family receptor tyrosine kinase TYRO3 is a negative regulator of type 2 immunity

    Science.gov (United States)

    Chan, Pamela Y.; Carrera Silva, Eugenio A.; De Kouchkovsky, Dimitri; Joannas, Leonel D.; Hao, Liming; Hu, Donglei; Huntsman, Scott; Eng, Celeste; Licona-Limón, Paula; Weinstein, Jason S.; Herbert, De’Broski R.; Craft, Joseph E.; Flavell, Richard A.; Repetto, Silvia; Correale, Jorge; Burchard, Esteban G.; Torgerson, Dara G.; Ghosh, Sourav; Rothlin, Carla V.

    2016-01-01

    Host responses against metazoan parasites or an array of environmental substances elicit type 2 immunity. Despite its protective function, type 2 immunity also drives allergic diseases. The mechanisms that regulate the magnitude of the type 2 response remain largely unknown. Here, we show that genetic ablation of a receptor tyrosine kinase encoded by Tyro3 in mice or the functional neutralization of its ortholog in human dendritic cells resulted in enhanced type 2 immunity. Furthermore, the TYRO3 agonist PROS1 was induced in T cells by the quintessential type 2 cytokine, interleukin-4. T cell–specific Pros1 knockouts phenocopied the loss of Tyro3. Thus, a PROS1-mediated feedback from adaptive immunity engages a rheostat, TYRO3, on innate immune cells to limit the intensity of type 2 responses. PMID:27034374

  1. ngs (notochord granular surface) gene encodes a novel type of intermediate filament family protein essential for notochord maintenance in zebrafish.

    Science.gov (United States)

    Tong, Xiangjun; Xia, Zhidan; Zu, Yao; Telfer, Helena; Hu, Jing; Yu, Jingyi; Liu, Huan; Zhang, Quan; Sodmergen; Lin, Shuo; Zhang, Bo

    2013-01-25

    The notochord is an important organ involved in embryonic patterning and locomotion. In zebrafish, the mature notochord consists of a single stack of fully differentiated, large vacuolated cells called chordocytes, surrounded by a single layer of less differentiated notochordal epithelial cells called chordoblasts. Through genetic analysis of zebrafish lines carrying pseudo-typed retroviral insertions, a mutant exhibiting a defective notochord with a granular appearance was isolated, and the corresponding gene was identified as ngs (notochord granular surface), which was specifically expressed in the notochord. In the mutants, the notochord started to degenerate from 32 hours post-fertilization, and the chordocytes were then gradually replaced by smaller cells derived from chordoblasts. The granular notochord phenotype was alleviated by anesthetizing the mutant embryos with tricaine to prevent muscle contraction and locomotion. Phylogenetic analysis showed that ngs encodes a new type of intermediate filament (IF) family protein, which we named chordostatin based on its function. Under the transmission electron microcopy, bundles of 10-nm-thick IF-like filaments were enriched in the chordocytes of wild-type zebrafish embryos, whereas the chordocytes in ngs mutants lacked IF-like structures. Furthermore, chordostatin-enhanced GFP (EGFP) fusion protein assembled into a filamentous network specifically in chordocytes. Taken together, our work demonstrates that ngs encodes a novel type of IF protein and functions to maintain notochord integrity for larval development and locomotion. Our work sheds light on the mechanisms of notochord structural maintenance, as well as the evolution and biological function of IF family proteins.

  2. [Identification of novel compound heterozygous mutations of USH2A gene in a family with Usher syndrome type II].

    Science.gov (United States)

    Jiang, Haiou; Ge, Chuanqin; Wang, Yiwang; Tang, Genyun; Quan, Qingli

    2015-06-01

    To identify potential mutations in a Chinese family with Usher syndrome type II. Genomic DNA was obtained from two affected and four unaffected members of the family and subjected to amplification of the entire coding sequence and splicing sites of USH2A gene. Mutation detection was conducted by direct sequencing of the PCR products. A total of 100 normal unrelated individuals were used as controls. The patients were identified to be a compound heterozygote for two mutations: c.8272G>T (p.E2758X) in exon 42 from his mother and c.12376-12378ACT>TAA(p.T4126X) in exon 63 of the USH2A gene from his father. Both mutations were not found in either of the two unaffected family members or 100 unrelated controls, and had completely co-segregated with the disease phenotype in the family. Neither mutation has been reported in the HGMD database. The novel compound heterozygous mutations c.8272G>T and c.12376-12378ACT>TAA within the USH2A gene may be responsible for the disease. This result may provide new clues for molecular diagnosis of this disease.

  3. Progressive myoclonic epilepsy type 1: Report of an Emirati family and literature review

    Directory of Open Access Journals (Sweden)

    Mohammed Saadah

    2014-01-01

    Conclusions: This is the first to report a family with EPM1 in UAE. Our study emphasized a particular phenotype expressed as earlier disease onset, severe myoclonus, and generalized seizures. Cognitive, cerebellar, motor, and autonomic dysfunctions and brain atrophy were also earlier at onset and more severe than previously reported. Recurrent viral infections are another unique feature. This constellation in tout à fait was not previously reported in the literature.

  4. [Prenatal genetic diagnosis for two Chinese families affected with oculocutaneous albinism type Ⅱ].

    Science.gov (United States)

    Hu, Hao; Wang, Hua; Jia, Zhengjun; Xie, Qiong

    2014-08-01

    To perform genotyping analysis and subsequent prenatal genetic diagnosis for two families affected with oculocutaneous albinism (OCA). Direct sequencing of TYR and P genes was performed in two albino probands. Family members were screened for corresponding mutant alleles. Prenatal genetic diagnoses were performed at early pregnancy by chorionic villus sampling (CVS) at mid-pregnancy through amniocentesis. No mutations were detected in the TYR gene in either probands, whereas 4 heterozygous mutations of the P gene were found, namely c.406C>T, c.535A>G, c.808-2A>G and c.2180T>C, among which c.535A>G and c.808-2A>G were novel. In the first round prenatal genetic testing, both fetuses were found to have the same genotypes as the probands. Both families had decided to terminate the pregnancy after genetic counseling. In the second round testing, neither of the fetuses was found to be affected by genotyping. The pregnancies continued and two healthy fetuses were born. OCA can be classified by genotyping, with which reliable prenatal diagnosis and feasible genetic counseling may be provided.

  5. Identification of two novel compound heterozygous mutations of ADGRV1 in a Chinese family with Usher syndrome type IIC.

    Science.gov (United States)

    Zhang, Nian; Wang, Juan; Liu, Shuting; Liu, Mugen; Jiang, Fagang

    2018-06-08

    To describe the clinical and genetic findings in a Chinese family with three sibs diagnosed with Usher syndrome type IIC. Four members received ophthalmic and otologic tests to ascertain the clinical characteristics. According to the clinical phenotype, we focused attention on a total of 658 genes associated with them. We screened the possible pathogenic mutation sites, used Sanger to exclude the false positive and verified whether there were co-segregated among the family members. Typical fundus features found in the proband supported the diagnosis of retinitis pigmentosa (RP). Audiometric test indicated moderate to severe sensorineural hearing impairment while the vestibular function was normal. Whole-exome sequencing identified the presence of two novel compound heterozygous mutations in ADGRV1, a known gene responsible for Usher syndrome type IIC. Mutationc.15008delG/p.Gly5003AlafsTer13 was inherited from the mother while c.18383_18386dupACAG/p.His6130GlnfsTer84 was inherited from the father, and they were co-segregated with the disease phenotype in the family. The mutations found in our study not only broaden the mutation spectrum of ADGRV1, but also provide assistances for future genetic diagnosis and treatment for Usher syndrome patients.

  6. Familial Aggregation between the 14th and 21st Century and Type 2 Diabetes Risk in an Isolated Dutch Population.

    Directory of Open Access Journals (Sweden)

    Kees L de Visser

    Full Text Available The development of type 2 diabetes results from an interaction of hereditary factors and environmental factors. This study aimed to investigate the contribution of interrelatedness to the risk of developing type 2 diabetes in an isolated Dutch population.A genealogical database from inhabitants living on the former island Urk between the 14th and 21st century was constructed. In a case-control study, effects of interrelatedness and the risk of type 2 diabetes were estimated with Kinship Coefficients (KCs. Relative risks in first, second, and third degree relatives and spouses of inhabitants with type 2 diabetes were compared to matched controls.Patients with type 2 diabetes were more interrelated, expressed by a higher KC compared to controls (7.2 vs. 5.2, p=0.001. First, second and third degree relatives had an increased risk of developing type 2 diabetes. Second degree relatives had a similar risk,1.7 (1.5-2.0 as third degree relatives,1.8 (1.5-2.2. Spouses of patients with diabetes had a 3.4 (2.7-4.4 higher risk of developing type 2 diabetes.Interrelatedness was higher among inhabitants with type 2 diabetes compared to controls. This differences extended beyond the nuclear family, thereby supporting the hypothesis that interrelatedness contributed to the development of type 2 diabetes on Urk. However, the size of this effect was small and the patterns of risk in first, second and third degree relatives suggested that factors other than interrelatedness were the main contributors to the development of type 2 diabetes on Urk.

  7. [Expression of mutation type GJA8 gene and wild type GJA8 gene of a congenital inherited nuclear cataract family in eukaryotic cells].

    Science.gov (United States)

    Zheng, Jian-qiu; Liu, Ping; Wang, Jian-wen; Liu, Jian-ju

    2010-04-20

    To clone the sequence of mutation type GJA8 gene (mGJA8) and wild type GJA8 gene (wGJA8) of a congenital inherited nuclear cataract family and study their expression in eukaryotic cell lines in vitro. The mGJA8 and wGJA8 were amplified from this family's DNA and healthy people's DNA by PCR respectively. The mGJA8 and wGJA8 were recombined with plasmid pEGFP-N1 respectively. The accuracy of pEGFP-N1-GJA8 was confirmed by restriction enzyme digestion and DNA sequencing. Finally pEGFP-N1- mGJA8 and pEGFP-N1- wGJA8 and GFP protein were transfected into COS7 cells by lipofectin. The expression of pEGFP-N1-GJA8 and GFP fusion protein were to observe under fluorescence microscope, and to detect by Western-blotting and immunohistochemical staining. The mGJA8 and wGJA8 were cloned successfully. With restricting enzyme digestion analysis and DNA sequencing, recombinant plasmid pEGFP-N1-mGJA8 and pEGFP-N1-wGJA8 were constructed correctly and their GFP fusions were expressed in transfected COS7 cells. The expression of pEGFP-N1-mGJA8 and pEGFP-N1-wGJA8 fusion protein were observed under fluorescence microscope, and detected by Western-blotting and immunohistochemical staining successfully. The mGJA8 gene and wGJA8 gene are cloned successfully, and pEGFP-N1-mGJA8 and pEGFP-N1-mGJA8 fusion protein can be expressed in COS7 cells, which establish the foundation for further studying the mechanism of this congenital inherited nuclear cataract family.

  8. Tissue-type plasminogen activator-binding RNA aptamers inhibiting low-density lipoprotein receptor family-mediated internalisation.

    Science.gov (United States)

    Bjerregaard, Nils; Bøtkjær, Kenneth A; Helsen, Nicky; Andreasen, Peter A; Dupont, Daniel M

    2015-07-01

    Recombinant tissue-type plasminogen activator (tPA, trade name Alteplase), currently the only drug approved by the US Food and Drug Administration and the European Medicines Agency for the treatment of cerebral ischaemic stroke, has been implicated in a number of adverse effects reportedly mediated by interactions with the low-density lipoprotein (LDL) family receptors, including neuronal cell death and an increased risk of cerebral haemorrhage. The tissue-type plasminogen activator is the principal initiator of thrombolysis in human physiology, an effect that is mediated directly via localised activation of the plasmin zymogen plasminogen at the surface of fibrin clots in the vascular lumen. Here, we sought to identify a ligand to tPA capable of inhibiting the relevant LDL family receptors without interfering with the fibrinolytic activity of tPA. Systematic evolution of ligands by exponential enrichment (SELEX) was employed to isolate tPA-binding RNA aptamers, which were characterised in biochemical assays of tPA association to low density lipoprotein receptor-related protein-1 (LRP-1, an LDL receptor family member); tPA-mediated in vitro and ex vivo clot lysis; and tPA-mediated plasminogen activation in the absence and presence of a stimulating soluble fibrin fragment. Two aptamers, K18 and K32, had minimal effects on clot lysis, but were able to efficiently inhibit tPA-LRP-1 association and LDL receptor family-mediated endocytosis in human vascular endothelial cells and astrocytes. These observations suggest that coadministration alongside tPA may be a viable strategy to improve the safety of thrombolytic treatment of cerebral ischaemic stroke by restricting tPA activity to the vascular lumen.

  9. Kernel based machine learning algorithm for the efficient prediction of type III polyketide synthase family of proteins

    Directory of Open Access Journals (Sweden)

    Mallika V

    2010-03-01

    Full Text Available Type III Polyketide synthases (PKS are family of proteins considered to have significant role in the biosynthesis of various polyketides in plants, fungi and bacteria. As these proteins show positive effects to human health, more researches are going on regarding this particular protein. Developing a tool to identify the probability of sequence, being a type III polyketide synthase will minimize the time consumption and manpower efforts. In this approach, we have designed and implemented PKSIIIpred, a high performance prediction server for type III PKS where the classifier is Support Vector Machine (SVM. Based on the limited training dataset, the tool efficiently predicts the type III PKS superfamily of proteins with high sensitivity and specificity. PKSIIIpred is available at http://type3pks.in/prediction/. We expect that this tool may serve as a useful resource for type III PKS researchers. Currently work is being progressed for further betterment of prediction accuracy by including more sequence features in the training dataset.

  10. Supernova 2010as: the lowest-velocity member of a family of flat-velocity type IIb supernovae

    Energy Technology Data Exchange (ETDEWEB)

    Folatelli, Gastón; Bersten, Melina C.; Nomoto, Ken' ichi [Kavli Institute for the Physics and Mathematics of the Universe (WPI), The University of Tokyo, Kashiwa, Chiba 277-8583 (Japan); Kuncarayakti, Hanindyo; Hamuy, Mario [Departamento de Astronomía, Universidad de Chile, Casilla 36-D, Santiago (Chile); Olivares Estay, Felipe; Pignata, Giuliano [Departamento de Ciencias Fisicas, Universidad Andres Bello, Avda. Republica 252, Santiago (Chile); Anderson, Joseph P. [European Southern Observatory, Alonso de Cordova 3107, Vitacura, Santiago (Chile); Holmbo, Simon; Stritzinger, Maximilian [Department of Physics and Astronomy, Aarhus University, Ny Munkegade 120, DK-8000 Aarhus C (Denmark); Maeda, Keiichi [Department of Astronomy, Kyoto University, Kitashirakawa-Oiwake-cho, Sakyo-ku, Kyoto 606-8502 (Japan); Morrell, Nidia; Contreras, Carlos; Phillips, Mark M. [Las Campanas Observatory, Carnegie Observatories, Casilla 601, La Serena (Chile); Förster, Francisco [Center for Mathematical Modelling, Universidad de Chile, Avenida Blanco Encalada 2120 Piso 7, Santiago (Chile); Prieto, José Luis [Department of Astrophysical Sciences, Princeton University, 4 Ivy Lane, Peyton Hall, Princeton, NJ 08544 (United States); Valenti, Stefano [Las Cumbres Observatory Global Telescope Network, 6740 Cortona Drive, Suite 102, Goleta, CA 93117 (United States); Afonso, Paulo; Altenmüller, Konrad; Elliott, Jonny, E-mail: gaston.folatelli@ipmu.jp [Max-Planck-Institut für extraterrestrische Physik, Giessenbachstraße 1, D-85740 Garching (Germany); and others

    2014-09-01

    We present extensive optical and near-infrared photometric and spectroscopic observations of the stripped-envelope supernova SN 2010as. Spectroscopic peculiarities such as initially weak helium features and low expansion velocities with a nearly flat evolution place this object in the small family of events previously identified as transitional Type Ib/c supernovae (SNe). There is ubiquitous evidence of hydrogen, albeit weak, in this family of SNe, indicating that they are in fact a peculiar kind of Type IIb SNe that we name 'flat-velocity' Type IIb. The flat-velocity evolution—which occurs at different levels between 6000 and 8000 km s{sup –1} for different SNe—suggests the presence of a dense shell in the ejecta. Despite the spectroscopic similarities, these objects show surprisingly diverse luminosities. We discuss the possible physical or geometrical unification picture for such diversity. Using archival Hubble Space Telescope images, we associate SN 2010as with a massive cluster and derive a progenitor age of ≈6 Myr, assuming a single star-formation burst, which is compatible with a Wolf-Rayet progenitor. Our hydrodynamical modeling, on the contrary, indicates that the pre-explosion mass was relatively low, ≈4 M {sub ☉}. The seeming contradiction between a young age and low pre-SN mass may be solved by a massive interacting binary progenitor.

  11. Nephritogenic antigen determinants in epidermal and renal basement membranes of kindreds with Alport-type familial nephritis.

    OpenAIRE

    Kashtan, C; Fish, A J; Kleppel, M; Yoshioka, K; Michael, A F

    1986-01-01

    We probed epidermal basement membranes (EBM) of acid-urea denatured skin from members of kindreds with Alport-type familial nephritis (FN) for the presence of antigens reactive with Goodpasture sera (GPS) and serum (FNS) from an Alport patient who developed anti-glomerular basement membrane (GBM) nephritis in a renal allograft. By immunoblotting, GPS reacted primarily with the 28,000 molecular weight (mol wt) monomer but also the 24,000 mol wt and 26,000 mol wt monomers of the noncollagenous ...

  12. Analytic solutions to a family of boundary-value problems for Ginsburg-Landau type equations

    Science.gov (United States)

    Vassilev, V. M.; Dantchev, D. M.; Djondjorov, P. A.

    2017-10-01

    We consider a two-parameter family of nonlinear ordinary differential equations describing the behavior of a critical thermodynamic system, e.g., a binary liquid mixture, of film geometry within the framework of the Ginzburg-Landau theory by means of the order-parameter. We focus on the case in which the confining surfaces are strongly adsorbing but prefer different components of the mixture, i.e., the order-parameter tends to infinity at one of the boundaries and to minus infinity at the other one. We assume that the boundaries of the system are positioned at a finite distance from each other and give analytic solutions to the corresponding boundary-value problems in terms of Weierstrass and Jacobi elliptic functions.

  13. Multi-time Lagrangian 1-forms for families of Bäcklund transformations. Relativistic Toda-type systems

    International Nuclear Information System (INIS)

    Boll, Raphael; Petrera, Matteo; Suris, Yuri B

    2015-01-01

    We establish the pluri-Lagrangian structure for families of Bäcklund transformations of relativistic Toda-type systems. The key idea is a novel embedding of these discrete-time (one-dimensional) systems into certain two-dimensional (2D) pluri-Lagrangian lattice systems. This embedding allows us to identify the corner equations (which are the main building blocks of the multi-time Euler–Lagrange equations) with local superposition formulae for Bäcklund transformations. These superposition formulae, in turn, are key ingredients necessary to understand and to prove commutativity of the multi-valued Bäcklund transformations. Furthermore, we discover a 2D generalization of the spectrality property known for families of Bäcklund transformations. This result produces a family of local conservations laws for 2D pluri-Lagrangian lattice systems, with densities being derivatives of the discrete 2-form with respect to the Bäcklund (spectral) parameter. Thus, a relation of the pluri-Lagrangian structure with more traditional integrability notions is established. (paper)

  14. Family Density and SES Related to Diabetes Management and Glycemic Control in Adolescents With Type 1 Diabetes.

    Science.gov (United States)

    Caccavale, Laura J; Weaver, Patrick; Chen, Rusan; Streisand, Randi; Holmes, Clarissa S

    2015-06-01

    Youth with Type 1 diabetes (T1D) from single-parent families have poorer glycemic control; a finding confounded with socioeconomic status (SES). Family density (FD), or youth:adult ratio, may better characterize family risk status. Structural equation modeling assessed the relation of single-parent status, SES, and FD to parenting stress, diabetes-related conflict, parental monitoring, adherence, and glycemic control using cross-sectional parent and youth data (n = 257). Single-parent status exhibited similar relations as SES and was removed. Lower FD was associated with better glycemic control (β = -.29, p = .014) via less conflict (β = .17, p = .038) and greater adherence (β = -.54, p single-parent status were indistinguishable from those of SES. FD provides distinct information related to adolescent glycemic control. © The Author 2015. Published by Oxford University Press on behalf of the Society of Pediatric Psychology. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  15. Nephritogenic antigen determinants in epidermal and renal basement membranes of kindreds with Alport-type familial nephritis.

    Science.gov (United States)

    Kashtan, C; Fish, A J; Kleppel, M; Yoshioka, K; Michael, A F

    1986-10-01

    We probed epidermal basement membranes (EBM) of acid-urea denatured skin from members of kindreds with Alport-type familial nephritis (FN) for the presence of antigens reactive with Goodpasture sera (GPS) and serum (FNS) from an Alport patient who developed anti-glomerular basement membrane (GBM) nephritis in a renal allograft. By immunoblotting, GPS reacted primarily with the 28,000 molecular weight (mol wt) monomer but also the 24,000 mol wt and 26,000 mol wt monomers of the noncollagenous globular domain (NC1) of type IV collagen from normal human GBM, while FNS identified only the 26,000-mol wt monomer. FNS reacted with EBM of 12 controls and nine unaffected male kindred members but not EBM of eight affected males. Five affected females exhibited interrupted reactivity of FNS with EBM. GPS showed variable reactivity with EBM and was not discriminating with respect to Alport-type FN. FNS did not stain renal basement members of five affected males. However, the EBM, tubular basement membrane, and Bowman's capsules of affected males contained antigens reactive with GPS. These immunochemical studies suggest that the FNS antigen is distinct from Goodpasture antigen(s). The expression of FNS antigen located on the NC1 domain of type IV collagen is altered in basement membranes of patients with Alport-type FN, and the distribution of this antigenic anomaly within kindreds suggests X-linked dominant transmission of a defective gene.

  16. Impact of Education on Disease Knowledge and Glycaemic Control Among Type 2 Diabetic Patients in Family Practice

    Directory of Open Access Journals (Sweden)

    Samira Herenda

    2007-08-01

    Full Text Available In patients with diabetes type 2, good knowledge about disease often doesn’t follow appropriate behavior in their life. Therefore, we wanted to find out basic level of disease knowledge and glycemic control among type 2 diabetic patients, and after that impact of passive and intensive education on knowledge and glycemic control. Starting with 130 participants, 91 patients with type 2 diabetes, from four family medicine services in Tuzla Canton, completed six months education about their disease. Disease Knowledge Test of Michigan Diabetes Training and Research Center was used to evaluate knowledge about diabetes and glycaemic control was assessed by HbAic. Participants were tested at the beginning of survey, after 3 months of passive education and additional 3 months of intensive one. Basic test showed good knowledge of participants (score 8,3 out of 15, improved knowledge after passive education (score 9,23 and intensive one (11,19 (P<0,0001. Demographic characteristics of patients (age, sex, living area, level of education, duration of disease and type of treatment had no influence on disease knowledge and glycaemic control during education. Generally, patient education improved significantly glycaemic control by HbA1c reduction 0,45% (P=0,011 without significant differences between passive and intensive one. Education of patients improves both disease knowledge and glycaemic control among type 2 diabetic patients.

  17. Influence of Type 1 Diabetes Mellitus on Women's Nutritional Beliefs and Lifestyle Choices for Themselves and Their Families.

    Science.gov (United States)

    Nnedu, Cordelia Chinwe; Gayle, Lynette; Popoola, Sola

    2015-12-01

    The aim of this research was to examine the impact of type 1 diabetes on women's nutritional beliefs and their lifestyle choices both for themselves and for their families. The data sources used were the online databases of OVID, CINAHL, MEDLINE, PsyINFO, PsyARTICLE, ERIC, Health Source Nursing/Academic edition, and the Centers for Disease Control from January 2000 to 2012. The concentration of the search was to identify literature with the key words "nutrition," "lifestyle," or "women with type 1 diabetes." The researchers found 28 data-based research articles that examined women with type 1 diabetes. The articles were individually scrutinized for relevance and limited to English language articles. Data concerning the nutritional beliefs, lifestyle choices, andfamily dynamics among women with DM1 were extracted. The research articles consisted of 19 qualitative studies, 7 quantitative studies, and 2 theory-testing studies. The themefor the studies included, but was not limited to, birth size, eating disorders, complications of diabetes mellitus, theory testing, documentations of effectiveness, estimations of carbohydrates, weight, changes during pregnancy in women with type 1 diabetes mellitus, and their educational preferences. This integrative review described the effects of DM1 on women's nutritional belief and lifestyle choices. Results demonstrated the importance of education and follow-ups; however, future studies are needed to identify factors that contribute to noncompliance and waysfor patients to comprehend the seriousness of complications that can arise from type 1 diabetes mellitus.

  18. 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.

  19. 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.

  20. Models of Parenting: Implications for Adolescent Well-Being within Different Types of Family Contexts.

    Science.gov (United States)

    Shucksmith, J.; And Others

    1995-01-01

    Examines parenting models and parent-child relationships from early to middle adolescence. Focuses on implications for adolescent functioning, including school integration and psychological well being. Results identify four distinct types of parenting styles characterized by different degrees of acceptance and control of young people's behavior.…

  1. (GPR98) gene in an Iranian family with Usher syndrome type II

    Indian Academy of Sciences (India)

    2014-12-04

    Dec 4, 2014 ... Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran 1985713834, Iran. [Kahrizi K. ... Usher syndrome (USH) is an autosomal recessive disease .... missense variants on the protein structures, pathogen severity .... genes to a Spanish Usher syndrome type 2 cohort.

  2. USH2A mutation analysis in 70 Dutch families with Usher syndrome type II.

    NARCIS (Netherlands)

    Pennings, R.J.E.; Brinke, H. te; Weston, M.D.; Claassen, A.M.W.; Orten, D.J.; Weekamp, H.; Aarem, A. van; Huygen, P.L.M.; Deutman, A.F.; Hoefsloot, L.H.; Cremers, F.P.M.; Cremers, C.W.R.J.; Kimberling, W.J.; Kremer, J.M.J.

    2004-01-01

    Usher syndrome type II (USH2) is characterised by moderate to severe high-frequency hearing impairment, progressive visual loss due to retinitis pigmentosa and intact vestibular responses. Three loci are known for USH2, however, only the gene for USH2a (USH2A) has been identified. Mutation analysis

  3. Are Migraine and Tension-Type Headache Genetically Related? An Investigation of Twin Family Data

    NARCIS (Netherlands)

    Ligthart, Lannie; Huijgen, Annemarie; Willemsen, Gonneke; De Geus, Eco J.C.; Boomsma, Dorret I.

    Migraine and tension-type headache (TTH) are often viewed as distinct entities and defined as such in the International Classification of Headache Disorders, 2nd edition (ICHD-II) criteria, although there is also empirical evidence to suggest they may be etiologically similar. This study aims to

  4. ngs (Notochord Granular Surface) Gene Encodes a Novel Type of Intermediate Filament Family Protein Essential for Notochord Maintenance in Zebrafish*

    Science.gov (United States)

    Tong, Xiangjun; Xia, Zhidan; Zu, Yao; Telfer, Helena; Hu, Jing; Yu, Jingyi; Liu, Huan; Zhang, Quan; Sodmergen; Lin, Shuo; Zhang, Bo

    2013-01-01

    The notochord is an important organ involved in embryonic patterning and locomotion. In zebrafish, the mature notochord consists of a single stack of fully differentiated, large vacuolated cells called chordocytes, surrounded by a single layer of less differentiated notochordal epithelial cells called chordoblasts. Through genetic analysis of zebrafish lines carrying pseudo-typed retroviral insertions, a mutant exhibiting a defective notochord with a granular appearance was isolated, and the corresponding gene was identified as ngs (notochord granular surface), which was specifically expressed in the notochord. In the mutants, the notochord started to degenerate from 32 hours post-fertilization, and the chordocytes were then gradually replaced by smaller cells derived from chordoblasts. The granular notochord phenotype was alleviated by anesthetizing the mutant embryos with tricaine to prevent muscle contraction and locomotion. Phylogenetic analysis showed that ngs encodes a new type of intermediate filament (IF) family protein, which we named chordostatin based on its function. Under the transmission electron microcopy, bundles of 10-nm-thick IF-like filaments were enriched in the chordocytes of wild-type zebrafish embryos, whereas the chordocytes in ngs mutants lacked IF-like structures. Furthermore, chordostatin-enhanced GFP (EGFP) fusion protein assembled into a filamentous network specifically in chordocytes. Taken together, our work demonstrates that ngs encodes a novel type of IF protein and functions to maintain notochord integrity for larval development and locomotion. Our work sheds light on the mechanisms of notochord structural maintenance, as well as the evolution and biological function of IF family proteins. PMID:23132861

  5. Germ-line origins of mutation in families with hemophilia B: The sex ratio varies with the type of mutation

    Energy Technology Data Exchange (ETDEWEB)

    Ketterling, R.P.; Vielhaber, E.; Bottema, C.D.K.; Schaid, D.J.; Sommer, S.S. (Mayo Clinic/Foundation, Rochester, MN (United States)); Cohen, M.P. (Vanderbilt Univ., Nashville, TN (United States)); Sexauer, C.L. (Children' s Hospital, Oklahoma City, OK (United States))

    1993-01-01

    Previous epidemiological and biochemical studies have generated conflicting estimates of the sex ratio of mutation. Direct genomic sequencing in combination with haplotype analysis extends previous analyses by allowing the precise mutation to be determined in a given family. From analysis of the factor IX gene of 260 consecutive families with hemophilia B, the authors report the germ-line origin of mutation in 25 families. When combined with 14 origins of mutation reported by others and with 4 origins previously reported by them, a total of 25 occur in the female germ line, and 18 occur in the male germ line. The excess of germ-line origins in females does not imply an overall excess mutation rate per base pair in the female germ line. Bayesian analysis of the data indicates that the sex ratio varies with the type of mutation. The aggregate of single-base substitutions shows a male predominance of germ-line mutations (P < .002). The maximum-likelihood estimate of the male predominance is 3.5-fold. Of the single-base substitutions, deletions display a sex ratio of unity. Analysis of the parental age at transmission of a new mutation suggests that germ-line mutations are associated with a small increase in parental age in females but little, if any, increase in males. Although direct genomic sequencing offers a general method for defining the origin of mutation in specific families, accurate estimates of the sex ratios of different mutational classes require large sample sizes and careful correction for multiple biases of ascertainment. The biases in the present data result in an underestimate of the enhancement of mutation in males. 62 refs., 1 fig., 5 tabs.

  6. A novel splice site mutation in the dentin sialophosphoprotein gene in a Chinese family with dentinogenesis imperfecta type II

    International Nuclear Information System (INIS)

    Wang Haoyang; Hou Yanning; Cui Yingxia; Huang Yufeng; Shi Yichao; Xia Xinyi; Lu Hongyong; Wang Yunhua; Li Xiaojun

    2009-01-01

    Twenty-four individuals were investigated that spanned six generations in a Chinese family affected with an apparently autosomal dominant form of dentinogenesis imperfecta type II (DGI-II, OMIM 125490). All affected individuals presented with typical, clinical and radiographic features of DGI-II, but without bilateral progressive high-frequency sensorineural hearing loss. To investigate the mutated molecule, a positional candidate approach was used to determine the mutated gene in this family. Genomic DNA was obtained from 24 affected individuals, 18 unaffected relatives of the family and 50 controls. Haplotype analysis was performed using leukocyte DNA for 6 short tandem repeat (STR) markers present in chromosome 4 (D4S1534, GATA62A11, DSPP, DMP1, SPP1 and D4S1563). In the critical region between D4S1534 and DMP1, the dentin sialophosphoprotein (DSPP) gene (OMIM *125485) was considered as the strongest candidate gene. The first four exons and exon/intron boundaries of the gene were analyzed using DNA from 24 affected individuals and 18 unaffected relatives of the same family. DNA sequencing revealed a heterozygous deletion mutation in intron 2 (at positions -3 to -25), which resulted in a frameshift mutation, that changed the acceptor site sequence from CAG to AAG (IVS2-3C→A) and may also have disrupted the branch point consensus sequence in intron 2. The mutation was found in the 24 affected individuals, but not in the 18 unaffected relatives and 50 controls. The deletion was identified by allele-specific sequencing and denaturing high-performance liquid chromatography (DHPLC) analysis. We conclude that the heterozygous deletion mutation contributed to the pathogenesis of DGI-II

  7. Numerical Simulations Of Catastrophic Disruption Of Porous Bodies: Application To Dark-type Asteroids And Kuiper-belt Family Formation

    Science.gov (United States)

    Michel, Patrick; Jutzi, M.; Richardson, D. C.; Benz, W.

    2010-10-01

    Asteroids of dark (e.g. C, D) taxonomic classes as well as Kuiper Belt objects and comets are believed to have high porosity, not only in the form of large voids but also in the form of micro-pores. The presence of such microscale porosity introduces additional physics in the impact process. We have enhanced our 3D SPH hydrocode, used to simulate catastrophic breakups, with a model of porosity [1] and validated it at small scale by comparison with impact experiments on pumice targets [2]. Our model is now ready to be applied to a large range of problems. In particular, accounting for the gravitational phase of an impact, we can study the formation of dark-type asteroid families, such as Veritas, and Kuiper-Belt families, such as Haumea. Recently we characterized for the first time the catastrophic impact energy threshold, usually called Q*D, as a function of the target's diameter, porosity, material strength and impact speed [3]. Regarding the mentioned families, our preliminary results show that accounting for porosity leads to different outcomes that may better represent their properties and constrain their definition. In particular, for Veritas, we find that its membership may need some revision [4]. The parameter space is still large, many interesting families need to be investigated and our model will be applied to a large range of cases. PM, MJ and DCR acknowledge financial support from the French Programme National de Planétologie, NASA PG&G "Small Bodies and Planetary Collisions" and NASA under Grant No. NNX08AM39G issued through the Office of Space Science, respectively. [1] Jutzi et al. 2008. Icarus 198, 242-255; [2] Jutzi et al. 2009. Icarus 201, 802-813; [3] Jutzi et al. 2010. Fragment properties at the catastrophic disruption threshold: The effect of the parent body's internal structure, Icarus 207, 54-65; [4] Michel et al. 2010. Icarus, submitted.

  8. Number and Severity of Type 2 Diabetes among Family Members Are Associated with Nutrition and Physical Activity Behaviors

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    Ann Oyare Amuta

    2017-07-01

    Full Text Available AimA binary measurement of type 2 diabetes (T2D has been found not to influence behaviors. We aimed to examine the influence of other measures of family history such as number of relatives, genetic closeness of relatives, and severity of T2D of family members on nutrition and physical activity behaviors among college students.MethodsStudents across four colleges in Texas were sampled. Multiple linear regression models, controlling for covariates, were used to model results. Cross-sectional data were used.ResultsMore number of relatives with T2D was associated with vegetable consumption (β = 0.131, p = 0.007 and exercise (β = 0.129, p = 0.037. Having relatives with severe T2D was associated with vegetable consumption (β = 0.157, p = 0.002 and exercise (β = 106, p = 0.027. Closer genetic relationship with someone with T2D was associated with increased vegetable consumption (β = 0.107, p = 0.023 and exercise (β = 0.096, p = 0.047.ConclusionIt is likely that the severe complications that may accompany the relatives T2D or having an immediate family member living with T2D may in fact motivate other family members without T2D to modify their attitudes, beliefs, and knowledge about T2D, thus encourage health-protective behaviors.

  9. [HLA genetic markers and auto-antibody profile in a Mapuche family with a case affected of type 1 diabetes].

    Science.gov (United States)

    Asenjo, Sylvia; Gleisner, Andrea; Pérez, Francisco

    2004-01-01

    Type 1 diabetes (DM1) is caused by an autoimmune process that destroys beta cells of pancreas. Not all carriers of susceptible HLA genes and positive for autoantibodies develop the disease. Environmental factors play a role in triggering the autoimmune process. To analyze an exceptional case of DM1 in a Mapuche family in the context of genetic, immunological and environmental factors. A study of a family with an affected female child was carried out in a Mapuche community in Southern Chile (VIII region). This is an unique and sporadic DM1 case with Mapuche heritage. Nutritional and viral infections data were collected by interview and clinical records. A genetic analysis by PCR was done to detect class I and II HLA genes by reverse dot blot. The proband, her mother and sister had positive islet cell antibodies (ICA). Her father and brother were negative. All thefamily was positive for anti glutamic decarboxylase antibodies (GAD65). All subjects had HLA-DRB1 0407/0407 and HLA-DQB1 0302/0302 alleles. The index case and her father were homozygotes for the HLA-A1:A*68012/A*68012 allele. Mean breastfeeding lapse was 18 months in all children. No evidences for viral infections such as rubella, mumps or measles were found in this family. There was an altered profile of autoantibodies in the family of the index case. All genotypes were comparable with the European population where the diabetogenic combination DR4/DQB1*0302 is the most prevalent. No environmental factors could be incriminated as triggers of the disease.

  10. Antibacterial activity of different types of snake venom from the Viperidae family against Staphylococcus aureus

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    Isabela Nascimento Canhas

    2017-09-01

    Full Text Available Toxins and venoms produced by living organisms have exhibited a variety of biological activities against microorganisms. In this study, we tested seven snake venoms from the family Viperidae for antibacterial activity and the activities of reversal of antibiotic resistance and inhibition of biofilm formation against 22 clinical isolates of Staphylococcus aureus. Bothrops moojeni venom exhibited anti staphylococcal activity with the lowest mean value of minimum inhibitory concentration (MIC. Moreover, reversal of antibiotic resistance was observed for combinations of B. moojeni venom (½ x MIC and norfloxacin or ampicillin (both ½ x MIC for 86.4% and 50% of the isolates, respectively. B. moojeni venom alone at ½ MIC inhibited 90% of biofilm formation, whereas in combination with ciprofloxacin, both at ½ MIC, a reduction on the NorA efflux pump activity was observed. The detection of in vitro mutants colonies of S. aureus resistant to B. moojeni venom was low and they did not survive. A phospholipase A2 was purified from the venom of B. moojeni and displayed anti-staphylococcal activity when tested alone or in combination with ciprofloxacin. The results presented here will contribute to the search for new antimicrobial agents against resistant S. aureus.

  11. Researches on the influence exerted by beehive type on bee family hibernation

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    Silvia Patruica

    2017-05-01

    Full Text Available This work presents the results of hibernation of bee colonies maintained in multi-storied beehives endowed with anti-varroa ground, made of wood and polystyrene Dadant. The experiments were carried out Banat’s University of Agricultural Sciences and Veterinary Medicine „King Michael the Ist” from Timişoara, Romania, between the 1st of November 2016 and 1st of March 2017. The biological material was represented by 20 Apis mellifera carpatica bee colonies, divided in two experimental variants, 10 colonies/batch, with similar power and same-age queens.  During the experiment, we observed the bee amount at the start of hibernation; the bee amount at the end of hibernation; the evolution of feed intake and losses caused by mortality. At the end of the experiment, we determined a bigger bee amount in the polystyrene Dadant beehives, significantly lower losses caused by mortality from a statistical point of view (p<0.001 and lower feed intake with 12.04% compared with the bee families maintained in the wooden multi-storied beehives.

  12. Neuronal ceroid-lipofuscinosis, a type of amaurotic family idiocy: clinical and pathological study of four cases

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    Luciano de Souza Queiroz

    1974-03-01

    Full Text Available Neuronal ceroid-lipofuscinosis (NCL is a recent term, proposed for acurate designation of the late-onset types of Amaurotic Family Idiocy (AFI. Histopathology shows ubiquitous intraneuronal accumulation of lipopigments, being the most important factor for characterization of the entity at present time. Biochemical changes and pathogenesis are obscure. NCL is in contrast to the infantile type of AFI (Tay-Sachs disease, in which intraneuronal accumulation of gangliosides (sphingolipids is due to the well known deficiency of a lysosomal enzyme. The authors report on four cases of NCL, two brothers of the late infantile (Jansky-Bielschowsky type and a brother and a sister of the juvenile (Spielmeyer-Sjögren type. One autopsy and three cortical biopsies revealed moderate to severe distention of the neurons by lipopigment, with nerve cell loss, gliosis and cerebral atrophy. Lipopigment was also increased in liver, heart and spleen. The patients were the first in Brazilian literature in whom the storage material was identified as lipopigment by histochemical methods. A brief summary of the clinical features of NCL is presented, and relevant problems are discussed, concerning interpretation of the nature of the storage material, and significance of the disease for gerontological research.

  13. Splitting families and the Noetherian type of $\\beta\\omega-\\omega$

    OpenAIRE

    Milovich, David

    2007-01-01

    Extending some results of Malykhin, we prove several independence results about base properties of $\\beta\\omega-\\omega$ and its powers, especially the Noetherian type $Nt(\\beta\\omega-\\omega)$, the least $\\kappa$ for which $\\beta\\omega-\\omega$ has a base that is $\\kappa$-like with respect to containment. For example, $Nt(\\beta\\omega-\\omega)$ is never less than the splitting number, but can consistently be that $\\omega_1$, $2^\\omega$, $(2^\\omega)^+$, or strictly between $\\omega_1$ and $2^\\omega...

  14. Talectomy for Equinovarus Deformity in Family Members with Hereditary Motor and Sensory Neuropathy Type I

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    Hristo Georgiev

    2014-01-01

    Full Text Available The treatment of severe rigid neurogenic clubfoot deformities still remains a challenging problem in modern paediatric orthopaedics. In those cases, in spite of being a palliative procedure, talectomy has been advocated for the correction of the deformity thus providing a stable plantigrade foot which allows pain-free walking with standard footwear. Herein, we present the results after talectomy in two patients (brother and sister affected by a hereditary motor and sensory neuropathy type I, with rigid severe pes equinovarus deformities.

  15. Novel compound heterozygous mutations in MYO7A in a Chinese family with Usher syndrome type 1.

    Science.gov (United States)

    Liu, Fei; Li, Pengcheng; Liu, Ying; Li, Weirong; Wong, Fulton; Du, Rong; Wang, Lei; Li, Chang; Jiang, Fagang; Tang, Zhaohui; Liu, Mugen

    2013-01-01

    To identify the disease-causing mutation(s) in a Chinese family with autosomal recessive Usher syndrome type 1 (USH1). An ophthalmic examination and an audiometric test were conducted to ascertain the phenotype of two affected siblings. The microsatellite marker D11S937, which is close to the candidate gene MYO7A (USH1B locus), was selected for genotyping. From the DNA of the proband, all coding exons and exon-intron boundaries of MYO7A were sequenced to identify the disease-causing mutation(s). Restriction fragment length polymorphism (RFLP) analysis was performed to exclude the alternative conclusion that the mutations are non-pathogenic rare polymorphisms. Based on severe hearing impairment, unintelligible speech, and retinitis pigmentosa, a clinical diagnosis of Usher syndrome type 1 was made. The genotyping results did not exclude the USH1B locus, which suggested that the MYO7A gene was likely the gene associated with the disease-causing mutation(s) in the family. With direct DNA sequencing of MYO7A, two novel compound heterozygous mutations (c.3742G>A and c.6051+1G>A) of MYO7A were identified in the proband. DNA sequence analysis and RFLP analysis of other family members showed that the mutations cosegregated with the disease. Unaffected members, including the parents, uncle, and sister of the proband, carry only one of the two mutations. The mutations were not present in the controls (100 normal Chinese subjects=200 chromosomes) according to the RFLP analysis. In this study, we identified two novel mutations, c.3742G>A (p.E1248K) and c.6051+1G>A (donor splice site mutation in intron 44), of MYO7A in a Chinese non-consanguineous family with USH1. The mutations cosegregated with the disease and most likely cause the phenotype in the two affected siblings who carry these mutations compound heterozygously. Our finding expands the mutational spectrum of MYO7A.

  16. A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4.

    Science.gov (United States)

    Wang, Xiong; Zhu, Yaowu; Shen, Na; Peng, Jing; Wang, Chunyu; Liu, Haiyi; Lu, Yanjun

    2017-01-27

    Waardenburg syndrome type 4 (WS4) or Waardenburg-Shah syndrome is a rare genetic disorder with a prevalence of <1/1,000,000 and characterized by the association of congenital sensorineural hearing loss, pigmentary abnormalities, and intestinal aganglionosis. There are three types of WS4 (WS4A-C) caused by mutations in endothelin receptor type B, endothelin 3, and SRY-box 10 (SOX10), respectively. This study investigated a genetic mutation in a Chinese family with one WS4 patient in order to improve genetic counselling. Genomic DNA was extracted, and mutation analysis of the three WS4 related genes was performed using Sanger sequencing. We detected a de novo heterozygous deletion mutation [c.1333delT (p.Ser445Glnfs*57)] in SOX10 in the patient; however, this mutation was absent in the unaffected parents and 40 ethnicity matched healthy controls. Subsequent phylogenetic analysis and three-dimensional modelling of the SOX10 protein confirmed that the c.1333delT heterozygous mutation was pathogenic, indicating that this mutation might constitute a candidate disease-causing mutation.

  17. A novel mutation of the MITF gene in a family with Waardenburg syndrome type 2: A case report.

    Science.gov (United States)

    Shi, Yunfang; Li, Xiaozhou; Ju, Duan; Li, Yan; Zhang, Xiuling; Zhang, Ying

    2016-04-01

    Waardenburg syndrome (WS) is an autosomal dominant disorder with varying degrees of sensorineural hearing loss, and accumulation of pigmentation in hair, skin and iris. There are four types of WS (WS1-4) with differing characteristics. Mutations in six genes [paired box gene 3 ( PAX3 ), microphthalmia-associated transcription factor ( MITF ), endothelin 3 ( END3 ), endothelin receptor type B ( EDNRB ), SRY (sex determining region Y)-box 10 ( SOX10 ) and snail homolog 2 ( SNAI2 )] have been identified to be associated with the various types. This case report describes the investigation of genetic mutations in three patients with WS2 from a single family. Genomic DNA was extracted, and the six WS-related genes were sequenced using next-generation sequencing technology. In addition to mutations in PAX3, EDNRB and SOX10, a novel heterozygous MITF mutation, p.Δ315Arg (c.944_946delGAA) on exon 8 was identified. This is predicted to be a candidate disease-causing mutation that may affect the structure and function of the enzyme.

  18. Heterozygous deletion at the SOX10 gene locus in two patients from a Chinese family with Waardenburg syndrome type II.

    Science.gov (United States)

    Wenzhi, He; Ruijin, Wen; Jieliang, Li; Xiaoyan, Ma; Haibo, Liu; Xiaoman, Wang; Jiajia, Xian; Shaoying, Li; Shuanglin, Li; Qing, Li

    2015-10-01

    Waardenburg syndrome (WS) is a rare disease characterized by sensorineural deafness and pigment disturbance. To date, almost 100 mutations have been reported, but few reports on cases with SOX10 gene deletion. The inheritance pattern of SOX10 gene deletion is still unclear. Our objective was to identify the genetic causes of Waardenburg syndrome type II in a two-generation Chinese family. Clinical evaluations were conducted in both of the patients. Microarray analysis and multiplex ligation-dependent probe amplification (MLPA) were performed to identify disease-related copy number variants (CNVs). DNA sequencing of the SOX10, MITF and SNAI2 genes was performed to identify the pathogenic mutation responsible for WS2. A 280kb heterozygous deletion at the 22q13.1 chromosome region (including SOX10) was detected in both of the patients. No mutation was found in the patients, unaffected family members and 30 unrelated healthy controls. This report is the first to describe SOX10 heterozygous deletions in Chinese WS2 patients. Our result conform the thesis that heterozygous deletions at SOX10 is an important pathogenicity for WS, and present as autosomal dominant inheritance. Nevertheless, heterozygous deletion of the SOX10 gene would be worth investigating to understand their functions and contributions to neurologic phenotypes. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  19. Lack of Association between SLC30A8 Variants and Type 2 Diabetes in Mexican American Families

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    Hemant Kulkarni

    2016-01-01

    Full Text Available SLC30A8 encodes zinc transporter 8 which is involved in packaging and release of insulin. Evidence for the association of SLC30A8 variants with type 2 diabetes (T2D is inconclusive. We interrogated single nucleotide polymorphisms (SNPs around SLC30A8 for association with T2D in high-risk, pedigreed individuals from extended Mexican American families. This study of 118 SNPs within 50 kb of the SLC30A8 locus tested the association with eight T2D-related traits at four levels: (i each SNP using measured genotype approach (MGA; (ii interaction of SNPs with age and sex; (iii combinations of SNPs using Bayesian Quantitative Trait Nucleotide (BQTN analyses; and (iv entire gene locus using the gene burden test. Only one SNP (rs7817754 was significantly associated with incident T2D but a summary statistic based on all T2D-related traits identified 11 novel SNPs. Three SNPs and one SNP were weakly but interactively associated with age and sex, respectively. BQTN analyses could not demonstrate any informative combination of SNPs over MGA. Lastly, gene burden test results showed that at best the SLC30A8 locus could account for only 1-2% of the variability in T2D-related traits. Our results indicate a lack of association of the SLC30A8 SNPs with T2D in Mexican American families.

  20. Preimplantation genetic diagnosis for a Chinese family with autosomal recessive Meckel-Gruber syndrome type 3 (MKS3.

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    Yanping Lu

    Full Text Available Meckel-Gruber syndrome type 3 is an autosomal recessive genetic defect caused by mutations in TMEM67 gene. In our previous study, we have identified a homozygous TMEM67 mutation in a Chinese family exhibiting clinical characteristics of MKS3, which provided a ground for further PGD procedure. Here we report the development and the first clinical application of the PGD for this MKS3 family. Molecular analysis protocol for clinical PGD procedure was established using 50 single cells in pre-clinical set-up. After whole genomic amplification by multiple displacement amplification with the DNA from single cells, three techniques were applied simultaneously to increase the accuracy and reliability of genetic diagnosis in single blastomere, including real-time PCR with Taq Man-MGB probe, haplotype analysis with polymorphic STR markers and Sanger sequencing. In the clinical PGD cycle, nine embryos at cleavage-stage were biopsied and subjected to genetic diagnosis. Two embryos diagnosed as free of TMEM67 mutation were transferred and one achieving normal pregnancy. Non-invasive prenatal assessment of trisomy 13, 18 and 21 by multiplex DNA sequencing at 18 weeks' gestation excluded the aneuploidy of the analyzed chromosomes. A healthy boy was delivered by cesarean section at 39 weeks' gestation. DNA sequencing from his cord blood confirmed the result of genetic analysis in the PGD cycle. The protocol developed in this study was proved to be rapid and safe for the detection of monogenic mutations in clinical PGD cycle.

  1. A familial case of segregation of motor sensory neuropathy type 1B with multiple exostoses in monozygous twins

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    V. P. Fedotov

    2015-01-01

    Full Text Available Hereditary motor-sensory neuropathy (MIM 118200 is a rare genetic variant of myelinopathy with autosomal-dominant type of inheritance. Multiple exostosis bones are signs of multiple exostoses chondrodysplasia, genetically heterogeneous form of systemic bone disease with an autosomal dominant mode of inheritance. The combination of two rare autosomal dominant diseases, affecting bone and peripheral nervous system in a pair of monozygotic twins and their father in one family, belongs to a unique clinical observations: since early childhood twins presented sharp reduction of the conduction velocity in all investigated motor nerves (>10 times together with multiple exostosis bone, confirmed by x-ray with a relatively benign course. Similar manifestations were detected in the patients father. DNA analysis confirmed the presence of 2 separate mutations in 2 different genes, с.389А>G/N gene MPZ and c.678С>А/N EXT2 gene that was inherited autosomal dominant manner, independently of each members of the same family.

  2. Impact of Relationship Status and Quality (Family Type) on the Mental Health of Mothers and Their Children: A 10-Year Longitudinal Study.

    Science.gov (United States)

    Hannighofer, Jasmin; Foran, Heather; Hahlweg, Kurt; Zimmermann, Tanja

    2017-01-01

    Mothers and children of single or unstable relationships have higher rates of mental health problems than those in stable two-parent families. Despite results that mothers and children of conflictual two-parent families also show impairments, most studies do not consider relationship quality. Therefore, the present study combines relationship status and relationship quality to a "family type." The present study compares German mothers and children of two-parent families with high relationship quality to those from two-parent families with a low quality, single mothers, and unstable families. Data of n  = 249 families from a 10-year follow-up longitudinal study show that mothers with a high relationship quality show the highest levels of mental health whereas all other groups show at least a 3.2 times higher probability of mental health symptoms. Children of mothers in unstable relationships show a 8.2 times higher probability to emotional or behavioral problems than children of mothers with high relationship quality. Therefore, not only relationship status but also relationship quality should be combined and this "family type" should be considered in future research.

  3. Genetic counseling for a three-generation Chinese family with Waardenburg syndrome type II associated with a rare SOX10 mutation.

    Science.gov (United States)

    Chen, Kaitian; Zong, Ling; Zhan, Yuan; Wu, Xuan; Liu, Min; Jiang, Hongyan

    2015-05-01

    Waardenburg syndrome is clinically and genetically heterogeneous. The SOX10 mutation related with Waardenburg syndrome type II is rare in Chinese. This study aimed to uncover the genetic causes of Waardenburg syndrome type II in a three-generation family to improve genetic counseling. Complete clinical and molecular evaluations were conducted in a three-generation Han Chinese family with Waardenburg syndrome type II. Targeted genetic counseling was provided to this family. We identified a rare heterozygous dominant mutation c.621C>A (p.Y207X) in SOX10 gene in this family. The premature termination codon occurs in exon 4, 27 residues downstream of the carboxyl end of the high mobility group box. Bioinformatics prediction suggested this variant to be disease-causing, probably due to nonsense-mediated mRNA decay. Useful genetic counseling was given to the family for prenatal guidance. Identification of a rare dominant heterozygous SOX10 mutation c.621C>A in this family provided an efficient way to understand the causes of Waardenburg syndrome type II and improved genetic counseling. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  4. Peroxisomal proliferator activated receptor-γ deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3

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    Cao Henian

    2006-01-01

    Full Text Available Abstract Background Familial partial lipodystrophy (Dunnigan type 3 (FPLD3, Mendelian Inheritance in Man [MIM] 604367 results from heterozygous mutations in PPARG encoding peroxisomal proliferator-activated receptor-γ. Both dominant-negative and haploinsufficiency mechanisms have been suggested for this condition. Methods We present a Canadian FPLD3 kindred with an affected mother who had loss of fat on arms and legs, but no increase in facial, neck, suprascapular or abdominal fat. She had profound insulin resistance, diabetes, severe hypertriglyceridemia and relapsing pancreatitis, while her pre-pubescent daughter had normal fat distribution but elevated plasma triglycerides and C-peptide and depressed high-density lipoprotein cholesterol. Results The mother and daughter were each heterozygous for PPARG nonsense mutation Y355X, whose protein product in vitro was transcriptionally inactive with no dominant-negative activity against the wild-type receptor. In addition the mutant protein appeared to be markedly unstable. Conclusion Taken together with previous studies of human PPARG mutations, these findings suggest that PPAR-γ deficiency due either to haploinsufficiency or to substantial activity loss due to dominant negative interference of the normal allele product's function can each contribute to the FPLD3 phenotype.

  5. Cytokine-like factor-1, a novel soluble protein, shares homology with members of the cytokine type I receptor family.

    Science.gov (United States)

    Elson, G C; Graber, P; Losberger, C; Herren, S; Gretener, D; Menoud, L N; Wells, T N; Kosco-Vilbois, M H; Gauchat, J F

    1998-08-01

    In this report we describe the identification, cloning, and expression pattern of human cytokine-like factor 1 (hCLF-1) and the identification and cloning of its murine homologue. They were identified from expressed sequence tags using amino acid sequences from conserved regions of the cytokine type I receptor family. Human CLF-1 and murine CLF-1 shared 96% amino acid identity and significant homology with many cytokine type I receptors. CLF-1 is a secreted protein, suggesting that it is either a soluble subunit within a cytokine receptor complex, like the soluble form of the IL-6R alpha-chain, or a subunit of a multimeric cytokine, e.g., IL-12 p40. The highest levels of hCLF-1 mRNA were observed in lymph node, spleen, thymus, appendix, placenta, stomach, bone marrow, and fetal lung, with constitutive expression of CLF-1 mRNA detected in a human kidney fibroblastic cell line. In fibroblast primary cell cultures, CLF-1 mRNA was up-regulated by TNF-alpha, IL-6, and IFN-gamma. Western blot analysis of recombinant forms of hCLF-1 showed that the protein has the tendency to form covalently linked di- and tetramers. These results suggest that CLF-1 is a novel soluble cytokine receptor subunit or part of a novel cytokine complex, possibly playing a regulatory role in the immune system and during fetal development.

  6. IL12RB2 gene is associated with the age of type 1 diabetes onset in Croatian family Trios.

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    Marina Pehlić

    Full Text Available BACKGROUND: Common complex diseases are influenced by both genetic and environmental factors. Many genetic factors overlap between various autoimmune diseases. The aim of the present study is to determine whether four genetic variants known to be risk variants for several autoimmune diseases could be associated with an increased susceptibility to type 1 diabetes mellitus. METHODS AND FINDINGS: We genotyped four genetic variants (rs2358817, rs1049550, rs6679356, rs9865818 within VTCN1, ANXA11, IL12RB2 and LPP genes respectively, in 265 T1DM family trios in Croatian population. We did not detect association of these polymorphisms with T1DM. However, quantitative transmission disequilibrium test (QTDT, orthogonal model revealed a significant association between the age of onset of T1DM and IL12RB2 rs6679356 variant. An earlier onset of T1DM was associated with the rs6679356 minor dominant allele C (p = 0.005. The association remained significant even after the Bonferroni correction for multiple testing and permutation. CONCLUSIONS: Variants originally associated with juvenile idiopathic arthritis (VTCN1 gene, sarcoidosis (ANXA11 gene, primary biliary cirrhosis (IL12RB2 gene and celiac disease (LPP gene were not associated with type 1 diabetes in our dataset. Nevertheless, association of IL12RB2 rs6679356 polymorphism with the age of T1DM onset suggests that this gene plays a role in defining the time of disease onset.

  7. Type 2 diabetes family histories, body composition and fasting glucose levels: a cross-section analysis in healthy sedentary male and female.

    Science.gov (United States)

    Bianco, Antonino; Pomara, Francesco; Thomas, Ewan; Paoli, Antonio; Battaglia, Giuseppe; Petrucci, Marco; Proia, Patrizia; Bellafiore, Marianna; Palma, Antonio

    2013-01-01

    Diabetes type 2 is a world wide spread disease with a multifactorial pathogenetic evolution. Various factors like obesity, physical inactivity and poor lifestyle habits contribute to its development. The aim of this study was to verify if in young healthy sedentary male and female there is positive correlation between family history to type 2 diabetes and an increase in body weight and fat mass, or alterations in basal glycemia values. Totally183 male and 237 female healthy sedentary subjects were analysed in 2012, in Italy. They were divided in three groups: FH(+) with first degree family history, FH(++) with second degree family history and FH(-) with no family history. Anthropometrics, body composition and blood parameters were assessed. Male had the highest BMI values (Plife-style changes, such as increased physical activity and controlled quantity and quality of food intake.

  8. 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.

  9. A family with unusual Waardenburg syndrome type I (WSI), cleft lip (palate), and Hirschsprung disease is not linked to PAX 3.

    Science.gov (United States)

    Pierpont, J W; St Jacques, D; Seaver, L H; Erickson, R P

    1995-03-01

    An unusual family with Waardenburg syndrome type 1 (WSI), cleft lip (palate), and Hirschsprung disease is not linked to the PAX 3 gene since there is an obligate crossover which has occurred between PAX 3 DNA markers and the disorder in this family. This family may also have anticipation of the WSI traits as the proband's grandmother is nonpenetrant, his mother has dystopia canthorum, and severe cleft lip (palate), while the proband has dystopia canthorum, severe cleft lip (palate), and Hirschsprung disease. Thus, a locus other than PAX 3 is implicated in this Waardenburg-like syndrome with Hirschsprung disease and cleft lip (palate).

  10. Genetic diversity of the Mycobacterium tuberculosis Beijing family based on SNP and VNTR typing profiles in Asian countries.

    Directory of Open Access Journals (Sweden)

    Yih-Yuan Chen

    Full Text Available The Mycobacterium tuberculosis (MTB Beijing strain is highly virulent, drug resistant, and endemic over Asia. To explore the genetic diversity of this family in several different regions of eastern Asia, 338 Beijing strains collected in Taiwan (Republic of China were analyzed by mycobacterial interspersed repetitive unit-variable number tandem repeat (MIRU-VNTR typing and compared with published MIRU-VNTR profiles and by the Hunter-Gaston diversity index (HGDI of Beijing strains from Japan and South Korea. The results revealed that VNTR2163b (HGDI>0.6 and five other loci (VNTR424, VNTR4052, VNTR1955, VNTR4156 and VNTR 2996; HGDI>0.3 could be used to discriminate the Beijing strains in a given geographic region. Analysis based on the number of VNTR repeats showed three VNTRs (VNTR424, 3192, and 1955 to be phylogenetically informative loci. In addition, to determine the geographic variation of sequence types in MTB populations, we also compared sequence type (ST data of our strains with published ST profiles of Beijing strains from Japan and Thailand. ST10, ST22, and ST19 were found to be prevalent in Taiwan (82% and Thailand (92%. Furthermore, classification of Beijing sublineages as ancient or modern in Taiwan was found to depend on the repeat number of VNTR424. Finally, phylogenetic relationships of MTB isolates in Taiwan, South Korea, and Japan were revealed by a minimum spanning tree based on MIRU-VNTR genotyping. In this topology, the MIRU-VNTR genotypes of the respective clusters were tightly correlated to other genotypic characters. These results are consistent with the hypothesis that clonal evolution of these MTB lineages has occurred.

  11. Genetic Diversity of the Mycobacterium tuberculosis Beijing Family Based on SNP and VNTR Typing Profiles in Asian Countries

    Science.gov (United States)

    Chen, Yih-Yuan; Chang, Jia-Ru; Huang, Wei-Feng; Kuo, Shu-Chen; Su, Ih-Jen; Sun, Jun-Ren; Chiueh, Tzong-Shi; Huang, Tsi-Shu; Chen, Yao-Shen; Dou, Horng-Yunn

    2012-01-01

    The Mycobacterium tuberculosis (MTB) Beijing strain is highly virulent, drug resistant, and endemic over Asia. To explore the genetic diversity of this family in several different regions of eastern Asia, 338 Beijing strains collected in Taiwan (Republic of China) were analyzed by mycobacterial interspersed repetitive unit-variable number tandem repeat (MIRU-VNTR) typing and compared with published MIRU-VNTR profiles and by the Hunter-Gaston diversity index (HGDI) of Beijing strains from Japan and South Korea. The results revealed that VNTR2163b (HGDI>0.6) and five other loci (VNTR424, VNTR4052, VNTR1955, VNTR4156 and VNTR 2996; HGDI>0.3) could be used to discriminate the Beijing strains in a given geographic region. Analysis based on the number of VNTR repeats showed three VNTRs (VNTR424, 3192, and 1955) to be phylogenetically informative loci. In addition, to determine the geographic variation of sequence types in MTB populations, we also compared sequence type (ST) data of our strains with published ST profiles of Beijing strains from Japan and Thailand. ST10, ST22, and ST19 were found to be prevalent in Taiwan (82%) and Thailand (92%). Furthermore, classification of Beijing sublineages as ancient or modern in Taiwan was found to depend on the repeat number of VNTR424. Finally, phylogenetic relationships of MTB isolates in Taiwan, South Korea, and Japan were revealed by a minimum spanning tree based on MIRU-VNTR genotyping. In this topology, the MIRU-VNTR genotypes of the respective clusters were tightly correlated to other genotypic characters. These results are consistent with the hypothesis that clonal evolution of these MTB lineages has occurred. PMID:22808061

  12. A novel mutation in the PAX3 gene causes Waardenburg syndrome type I in an Iranian family.

    Science.gov (United States)

    Jalilian, Nazanin; Tabatabaiefar, Mohammad Amin; Farhadi, Mohammad; Bahrami, Tayyeb; Noori-Daloii, Mohammad Reza

    2015-10-01

    Sensorineural hearing impairment (HI) is one of the most frequent congenital defects, with a prevalence of 1 in 500 among neonates. Although there are over 400 syndromes involving HI, most cases of HI are nonsyndromic (70%), 20% of which follow autosomal dominant mode of inheritance. Waardenburg syndrome (WS) ranks first among autosomal dominant syndromic forms of HI. WS is characterized by sensorineural hearing impairment, pigmentation abnormalities of hair and skin and hypoplastic blue eyes or heterochromia iridis. WS is subdivided into four major types, WS1-WS4. WS1 is diagnosed by the presence of dystopia canthorum and PAX3 is the only gene involved. This study aims to determine the pathogenic mutation in a large Iranian pedigree affected with WS1 in order to further confirm the clinical diagnosis. In the present study, a family segregating HI was ascertained in a genetic counseling center. Upon clinical inspection, white forelock, dystopia canthorum, broad high nasal root and synophrys, characteristic of WS1 were evident. In order to clarify the genetic etiology and confirm the clinical data, primers were designed to amplify exons and exon-intron boundaries of the responsible gene, PAX3 with 10 exons, followed by the Sanger DNA sequencing method. Genetic analysis of PAX3 revealed a novel mutation in PAX3 (c.1024_1040 del AGCACGATTCCTTCCAA). Our data provide genotype-phenotype correlation for the mutation in PAX3 and WS1 in the studied family, with implications for genetic counseling, which necessitates detailed clinical inspection of HI patients to distinguish syndromic HI from the more common non-syndromic cases. Our results reveal the value of phenotype-directed genetic analysis and could further expand the spectrum of PAX3 mutations. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  13. A novel mutation in the MYO7A gene is associated with Usher syndrome type 1 in a Chinese family.

    Science.gov (United States)

    He, Xiaoguang; Peng, Qi; Li, Siping; Zhu, Pengyuan; Wu, Chunqiu; Rao, Chunbao; Lin, Jingqi; Lu, Xiaomei

    2017-08-01

    We aimed to investigate the genetic causes of hearing loss in a Chinese proband with autosomal recessive congenital deafness. The targeted capture of 159 known deafness genes and next-generation sequencing were performed to study the genetic causes of hearing loss in the Chinese family. Sanger sequencing was employed to verify the variant mutations in members of this family. The proband harbored two mutations in the MYO7A gene in the form of compound heterozygosity. She was found to be heterozygous for a novel insertion mutation c.3847_3848 ins TCTG (p.N1285LfsX24) in exon 30 and for the known mutation c.2239_2240delAG (p.R747S fsX16)in exon 19. The novel mutation was absent in the 1000 Genomes Project. These variants were carried in the heterozygous state by the parents and were therefore co-segregated with the genetic disease. Clinical re-assessment, including detailed audiologic and ocular examinations, revealed congenital deafness and retinitis pigmentosa in the proband. Collectively, the combination of audiometric, ophthalmologic and genetic examinations successfully confirmed the phenotype of Usher syndrome type 1 (USH1). This study demonstrates that the novel mutation c.3847_3848insTCTG (p. N1285LfsX24) in compound heterozygosity with c.2239_2240delAG in the MYO7A gene is the main cause of USH1 in the proband. Our study expands the mutational spectrum of MYO7A and provides a foundation for further investigations elucidating the MYO7A-related mechanisms of USH1. Copyright © 2017 Elsevier B.V. All rights reserved.

  14. [Structure and Family Type in Patients With Substance Abuse or Dependence Psychoactive Rehabilitation Center of Addiction in the Municipality of Chia Cundinamarca].

    Science.gov (United States)

    Vargas Navarro, Pedro; Parra Vera, Mario Danilo; Arévalo Zamora, Caterín; Cifuentes Gaitán, Luisa Karen; Valero Carvajal, Jaime; Sierra de Jaramillo, Margarita

    2015-01-01

    To determine the family type, family structure in a group of patients with a diagnosis of substance abuse or dependence who were at a rehabilitation center for addiction during the period between August and October 2009. Through a descriptive qualitative-interpretative methodology 10 patients who met inclusion criteria for substance dependence or abuse were studied. The fieldwork and transcripts were made for three months by non-participant observation, non-structured interviews and examination of patients' clinical history. Seven of the families interviewed were single-parent families with an unconventional organization on "gender roles". Single-parent families favored loneliness, difficulty in rule-setting, de-idealization of the place of the father in the family structure and a constant search for complicity. In the analysis by categories, we found that in 10 families in the study of individuals with addictions it is common to find family structure characteristics such as inadequate communication, lack of authority rules and limits, presence of triangulations, the lack of cohesion due to the existence of a disconnected relationship pattern and changed roles compared to conventional gender. The search for the affection of the mother at her emotional overload absence of roles and lack of father, raised by the separation of the couple, was found as an essential aspect underlying the addictive behavior. A pattern of parental abandonment is configured. The findings confirmed what has been mentioned by various authors regarding the characteristics of the family typology structure and personal factors in patients with addictions, in addition to their need for affection combined with the desire for the mother's presence. The family typology does not determine for itself the abuse of psychoactive substances, but the influence of other factors such as family structure, especially deficient affective interactions, which should be considered in the development of

  15. Individual and family strengths: an examination of the relation to disease management and metabolic control in youth with type 1 diabetes.

    Science.gov (United States)

    Mackey, Eleanor Race; Hilliard, Marisa E; Berger, Sarah Shafer; Streisand, Randi; Chen, Rusan; Holmes, Clarissa

    2011-12-01

    We examined the association of youths' positive qualities, family cohesion, disease management, and metabolic control in Type 1 diabetes. Two-hundred fifty-seven youth-parent dyads completed the Family Cohesion subscale of the Family Environment Scale, the Diabetes Behavior Rating Scale, 24-hour diabetes interview, and youth completed the Positive Qualities subscale of the Youth Self Report (YSR-PQ). Structural equation modeling demonstrated that YSR-PQ scores were associated with metabolic control mediated by associations with more family cohesion and better disease management. That is, youth with higher YSR-PQ scores had more cohesive families, better disease management, and, indirectly, better metabolic control. Family cohesion was indirectly associated with better metabolic control mediated by its association with better disease management, but not mediated by its association with YSR-PQ scores. Youth who reported more positive qualities, as measured by the YSR-PQ subscale, had better disease management and metabolic control through the association with more family cohesion. However, the current results did not support an alternative hypothesis that cohesive families display better diabetes management mediated by higher YSR-PQ scores.

  16. Impact of Relationship Status and Quality (Family Type on the Mental Health of Mothers and Their Children: A 10-Year Longitudinal Study

    Directory of Open Access Journals (Sweden)

    Jasmin Hannighofer

    2017-11-01

    Full Text Available Mothers and children of single or unstable relationships have higher rates of mental health problems than those in stable two-parent families. Despite results that mothers and children of conflictual two-parent families also show impairments, most studies do not consider relationship quality. Therefore, the present study combines relationship status and relationship quality to a “family type.” The present study compares German mothers and children of two-parent families with high relationship quality to those from two-parent families with a low quality, single mothers, and unstable families. Data of n = 249 families from a 10-year follow-up longitudinal study show that mothers with a high relationship quality show the highest levels of mental health whereas all other groups show at least a 3.2 times higher probability of mental health symptoms. Children of mothers in unstable relationships show a 8.2 times higher probability to emotional or behavioral problems than children of mothers with high relationship quality. Therefore, not only relationship status but also relationship quality should be combined and this “family type” should be considered in future research.

  17. Seven novel mutations in the long isoform of the USH2A gene in Chinese families with nonsyndromic retinitis pigmentosa and Usher syndrome Type II.

    Science.gov (United States)

    Xu, Wenjun; Dai, Hanjun; Lu, Tingting; Zhang, Xiaohui; Dong, Bing; Li, Yang

    2011-01-01

    To describe the clinical and genetic findings in one Chinese family with autosomal recessive retinitis pigmentosa (arRP) and in three unrelated Chinese families with Usher syndrome type II (USH2). One family (FR1) with arRP and three unrelated families (F6, F7, and F8) with Usher syndrome (USH), including eight affected members and seven unaffected family individuals were examined clinically. The study included 100 normal Chinese individuals as normal controls. After obtaining informed consent, peripheral blood samples from all participants were collected and genomic DNA was extracted. Genotyping and haplotyping analyses were performed on the known genetic loci for arRP with a panel of polymorphic markers in family FR1. In all four families, the coding region (exons 2-72), including the intron-exon boundary of the USH2A (Usher syndrome type -2A protein) gene, was screened by PCR and direct DNA sequencing. Whenever substitutions were identified in a patient, a restriction fragment length polymorphism (RFLP) analysis, single strand conformation polymorphism (SSCP) analysis, or high resolution melt curve analysis (HRM) was performed on all available family members and on the 100 normal controls. The affected individuals presented with typical fundus features of retinitis pigmentosa (RP), including narrowing of the vessels, bone-spicule pigmentation, and waxy optic discs. The electroretinogram (ERG) wave amplitudes of the available probands were undetectable. Audiometric tests in the affected individuals in family FR1 were normal, while indicating moderate to severe sensorineural hearing impairment in the affected individuals in families F6, F7, and F8. Vestibular function was normal in all patients from all four families. The disease-causing gene in family FR1 was mapped to the USH2A locus on chromosome 1q41. Seven novel mutations (two missenses, one 7-bp deletion, two small deletions, and two nonsenses) were detected in the four families after sequencing analysis of

  18. Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D.

    Science.gov (United States)

    Bolz, H; von Brederlow, B; Ramírez, A; Bryda, E C; Kutsche, K; Nothwang, H G; Seeliger, M; del C-Salcedó Cabrera, M; Vila, M C; Molina, O P; Gal, A; Kubisch, C

    2001-01-01

    Usher syndrome type I (USH1) is an autosomal recessive disorder characterized by congenital sensorineural hearing loss, vestibular dysfunction and visual impairment due to early onset retinitis pigmentosa (RP). So far, six loci (USH1A-USH1F) have been mapped, but only two USH1 genes have been identified: MYO7A for USH1B and the gene encoding harmonin for USH1C. We identified a Cuban pedigree linked to the locus for Usher syndrome type 1D (MIM 601067) within the q2 region of chromosome 10). Affected individuals present with congenital deafness and a highly variable degree of retinal degeneration. Using a positional candidate approach, we identified a new member of the cadherin gene superfamily, CDH23. It encodes a protein of 3,354 amino acids with a single transmembrane domain and 27 cadherin repeats. In the Cuban family, we detected two different mutations: a severe course of the retinal disease was observed in individuals homozygous for what is probably a truncating splice-site mutation (c.4488G-->C), whereas mild RP is present in individuals carrying the homozygous missense mutation R1746Q. A variable expression of the retinal phenotype was seen in patients with a combination of both mutations. In addition, we identified two mutations, Delta M1281 and IVS51+5G-->A, in a German USH1 patient. Our data show that different mutations in CDH23 result in USH1D with a variable retinal phenotype. In an accompanying paper, it is shown that mutations in the mouse ortholog cause disorganization of inner ear stereocilia and deafness in the waltzer mouse.

  19. Household and familial resemblance in risk factors for type 2 diabetes and related cardiometabolic diseases in rural Uganda

    DEFF Research Database (Denmark)

    Nielsen, Jannie; Bahendeka, Silver K.; Whyte, Susan R.

    2017-01-01

    prevention and screening, we investigated the resemblance of T2D risk factors at household level and by type of familial dyadic relationship in a rural Ugandan community. Methods: This cross-sectional household-based study included 437 individuals ≥13 years of age from 90 rural households in south......-western Uganda. Resemblance in glycosylated haemoglobin (HbA1c), anthropometry, blood pressure, fitness status and sitting time were analysed using a general mixed model with random effects (by household or dyad) to calculate household intraclass correlation coefficients (ICCs) and dyadic regression coefficients...... (ICC=0.24), HbA1c (ICC=0.18) and systolic blood pressure (ICC=0.11). Regarding dyadic resemblance, the highest standardised regression coefficient was seen in fitness status for spouses (0.54, 95% CI 0.32 to 0.76), parent–offspring (0.41, 95% CI 0.28 0.54) and siblings (0.41, 95% CI 0.25 to 0...

  20. On the Emerging Role of the Taste Receptor Type 1 (T1R Family of Nutrient-Sensors in the Musculoskeletal System

    Directory of Open Access Journals (Sweden)

    Shoichiro Kokabu

    2017-03-01

    Full Text Available The special sense of taste guides and guards food intake and is essential for body maintenance. Salty and sour tastes are sensed via ion channels or gated ion channels while G protein-coupled receptors (GPCRs of the taste receptor type 1 (T1R family sense sweet and umami tastes and GPCRs of the taste receptor type 2 (T2R family sense bitter tastes. T1R and T2R receptors share similar downstream signaling pathways that result in the stimulation of phospholipase-C-β2. The T1R family includes three members that form heterodimeric complexes to recognize either amino acids or sweet molecules such as glucose. Although these functions were originally described in gustatory tissue, T1R family members are expressed in numerous non-gustatory tissues and are now viewed as nutrient sensors that play important roles in monitoring global glucose and amino acid status. Here, we highlight emerging evidence detailing the function of T1R family members in the musculoskeletal system and review these findings in the context of the musculoskeletal diseases sarcopenia and osteoporosis, which are major public health problems among the elderly that affect locomotion, activities of daily living, and quality of life. These studies raise the possibility that T1R family member function may be modulated for therapeutic benefit.

  1. [Impact of Different Types of Fathers on Family Climate in Young Adulthood: A Multi-perspective Longitudinal Study on 14 to 27 Year Olds and their Fathers].

    Science.gov (United States)

    Escher, Fabian J; Seiffge-Krenke, Inge

    2018-01-01

    Impact of Different Types of Fathers on Family Climate in Young Adulthood: A Multi-perspective Longitudinal Study on 14 to 27 Year Olds and their Fathers In a 13 year longitudinal study, the influence of three types of fathers on the family climate was analyzed. In a sample of 213 subjects, their 169 fathers and their 210 mothers, the family environment ( Family Environment Scales) was examined when the subjects were young adults (M = 26.89, SD = 1.32). The results of the study point to significant changes in family climate in those young adults who described their father as increasingly negative (N = 28) or distant (N = 11) when in adolescence. These two groups showed a more negative family environment and greater differences between the perspectives of fathers and their young adult children than the group of young adults who described their father as normative (N = 174) when in adolescence. The highest discrepancies were described by young adults with a negative relationship with their father in adolescence. The findings show a long lasting importance of father-child interactions in adolescence.

  2. Role of adiposity and lifestyle in the relationship between family history of diabetes and 20-year incidence of type 2 diabetes in US women

    NARCIS (Netherlands)

    van 't Riet, E.; Dekker, J.M.; Sun, Q.; Nijpels, G.; Hu, F.B.; van Dam, R.M.

    2010-01-01

    OBJECTIVE - To evaluate to what extent the association between family history of diabetes and risk of type 2 diabetes can be explained by excess adiposity and lifestyle risk factors. RESEARCH DESIGN AND METHODS - We analyzed data from 73,227 women who participated in the Nurses' Health Study cohort.

  3. Type of Violence, Age, and Gender Differences in the Effects of Family Violence on Children's Behavior Problems: A Mega-Analysis

    Science.gov (United States)

    Sternberg, Kathleen J.; Baradaran, Laila P.; Abbott, Craig B.; Lamb, Michael E.; Guterman, Eva

    2006-01-01

    A mega-analytic study was designed to exploit the power of a large data set combining raw data from multiple studies (n=1870) to examine the effects of type of family violence, age, and gender on children's behavior problems assessed using the Child Behavior Checklist (CBCL). Our findings confirmed that children who experienced multiple forms of…

  4. The Development of Sex Role Stereotypes in the Third Year: Relationships to Gender Labeling, Gender Identity, Sex-Typed Toy Preference, and Family Characteristics.

    Science.gov (United States)

    Weinraub, Marsha; And Others

    1984-01-01

    The onset and development of preschoolers' awareness of sex role stereotypes, gender labeling, gender identity, and sex-typed toy preference were explored in 26-, 31-, and 36-month-old children. Family characteristics that affect early sex role development also were investigated. (Author/RH)

  5. Associations between Familial Factor, Trait Conscientiousness, Gender and the Occurrence of Type 2 Diabetes in Adulthood: Evidence from a British Cohort.

    Directory of Open Access Journals (Sweden)

    Helen Cheng

    Full Text Available To investigate social, familial, and psychological factors in influencing the occurrence of type 2 diabetes in adulthood.Some 17,415 babies born in Great Britain in 1958 and followed up at 7, 11, 33, and 50 years of age. The prevalence of type 2 diabetes at age 50 years was the outcome measure.Some 5,032 participants with data on parental social class, childhood cognitive ability tests scores at age 11 years, educational qualifications at age 33 years, personality traits, occupational levels, and type 2 diabetes (all measured at age 50 years were included in the study. Available information also included whether cohort members' parents or siblings had diabetes. Using logistic regression analyses, results showed that sex (OR=0.63: 0.42-0.92, p<.05, family history (OR=3.40: 1.76-6.55, p<.01, and trait conscientiousness (OR=0.76: 0.64-0.90, p<.001 were all significantly and independently associated with the occurrence of type 2 diabetes in adulthood. It appears that the occurrence of type 2 diabetes is greater among men than women (4.3% vs 2.5%.Familial (genetic and non-genetic and psychological factors are significantly associated with the prevalence of type 2 diabetes in adulthood.

  6. Diverse functional consequences of mutations in the Na+/K+-ATPase alpha2-subunit causing familial hemiplegic migraine type 2.

    NARCIS (Netherlands)

    Tavraz, N.N.; Friedrich, T.; Durr, K.L.; Koenderink, J.B.; Bamberg, E.; Freilinger, T.; Dichgans, M.

    2008-01-01

    Mutations in ATP1A2, the gene coding for the Na(+)/K(+)-ATPase alpha(2)-subunit, are associated with both familial hemiplegic migraine and sporadic cases of hemiplegic migraine. In this study, we examined the functional properties of 11 ATP1A2 mutations associated with familial or sporadic

  7. Knowledge about hereditary cancer of women with family histories of breast, colorectal, or both types of cancer.

    Science.gov (United States)

    Campacci, N; de Lima, J O; Ramadan, L; Palmero, E I

    2015-03-01

    Usually, the mass media do not address hereditary cancer and their risk factors, nor are these topics discussed at the community level. We used an informative guide on cancer and hereditary cancer, followed by a questionnaire on these topics to investigate the relevant knowledge among women at high risk for hereditary breast and/or colorectal cancer from a population-based cohort. The cohort was composed of 81 Brazilian women with positive family histories of breast and/or colorectal cancer. Strauss and Corbin's Grounded Theory was used for qualitative analysis. The average age of the cohort was 49.9 years old. Three participants (3.9%) were illiterate, 45 (59.2%) had attended elementary school, 14 (18.4%) had secondary school, and 14 (18.4%) held higher education degrees. A total of 47 (54.3%) volunteers were unable to fully understand the information provided in the guide because they did not know the meaning of words such as metastasis, malignant, hereditary, sporadic, or oncogenetics. Notwithstanding, the acceptance of the educational tool utilized was satisfactory, and it enhanced the volunteers' interest in a better understanding of cancer and heredity. Thereby, we concluded that the low knowledge of this important subject and the unawareness about fundamental terms required for the comprehension of this specific type of neoplasm made us believe that the use of the informative guide can provide a great value when used previously to the genetic counseling consultations. Besides, educational tools of easy understanding should be part of everyday clinical practice, from primary to specialized patient care.

  8. Loss of heterozygosity on chromosome 11q13 in two families with acromegaly/gigantism is independent of mutations of the multiple endocrine neoplasia type I gene.

    Science.gov (United States)

    Gadelha, M R; Prezant, T R; Une, K N; Glick, R P; Moskal, S F; Vaisman, M; Melmed, S; Kineman, R D; Frohman, L A

    1999-01-01

    Familial acromegaly/gigantism occurring in the absence of multiple endocrine neoplasia type I (MEN-1) or the Carney complex has been reported in 18 families since the biochemical diagnosis of GH excess became available, and the genetic defect is unknown. In the present study we examined 2 unrelated families with isolated acromegaly/gigantism. In family A, 3 of 4 siblings were affected, with ages at diagnosis of 19, 21, and 23 yr. In family B, 5 of 13 siblings exhibited the phenotype and were diagnosed at 13, 15, 17, 17, and 24 yr of age. All 8 affected patients had elevated basal GH levels associated with high insulin-like growth factor I levels and/or nonsuppressible serum GH levels during an oral glucose tolerance test. GHRH levels were normal in affected members of family A. An invasive macroadenoma was found in 6 subjects, and a microadenoma was found in 1 subject from family B. The sequence of the GHRH receptor complementary DNA in 1 tumor from family A was normal. There was no history of consanguinity in either family, and the past medical history and laboratory results excluded MEN-1 and the Carney complex in all affected and unaffected screened subjects. Five of 8 subjects have undergone pituitary surgery to date, and paraffin-embedded pituitary blocks were available for analysis. Loss of heterozygosity on chromosome 11q13 was studied by comparing microsatellite polymorphisms of leukocyte and tumor DNA using PYGM (centromeric) and D11S527 (telomeric), markers closely linked to the MEN-1 tumor suppressor gene. All tumors exhibited a loss of heterozygosity at both markers. Sequencing of the MEN-1 gene revealed no germline mutations in either family, nor was a somatic mutation found in tumor DNA from one subject in family A. The integrity of the MEN-1 gene in this subject was further supported by demonstration of the presence of MEN-1 messenger ribonucleic acid, as assessed by RT-PCR. These data indicate that loss of heterozygosity in these affected family

  9. F-Type Lectins: A Highly Diversified Family of Fucose-Binding Proteins with a Unique Sequence Motif and Structural Fold, Involved in Self/Non-Self-Recognition

    Directory of Open Access Journals (Sweden)

    Gerardo R. Vasta

    2017-11-01

    Full Text Available The F-type lectin (FTL family is one of the most recent to be identified and structurally characterized. Members of the FTL family are characterized by a fucose recognition domain [F-type lectin domain (FTLD] that displays a novel jellyroll fold (“F-type” fold and unique carbohydrate- and calcium-binding sequence motifs. This novel lectin family comprises widely distributed proteins exhibiting single, double, or greater multiples of the FTLD, either tandemly arrayed or combined with other structurally and functionally distinct domains, yielding lectin subunits of pleiotropic properties even within a single species. Furthermore, the extraordinary variability of FTL sequences (isoforms that are expressed in a single individual has revealed genetic mechanisms of diversification in ligand recognition that are unique to FTLs. Functions of FTLs in self/non-self-recognition include innate immunity, fertilization, microbial adhesion, and pathogenesis, among others. In addition, although the F-type fold is distinctive for FTLs, a structure-based search revealed apparently unrelated proteins with minor sequence similarity to FTLs that displayed the FTLD fold. In general, the phylogenetic analysis of FTLD sequences from viruses to mammals reveals clades that are consistent with the currently accepted taxonomy of extant species. However, the surprisingly discontinuous distribution of FTLDs within each taxonomic category suggests not only an extensive structural/functional diversification of the FTLs along evolutionary lineages but also that this intriguing lectin family has been subject to frequent gene duplication, secondary loss, lateral transfer, and functional co-option.

  10. EIF4A2 is a positional candidate gene at the 3q27 locus linked to type 2 diabetes in French families

    DEFF Research Database (Denmark)

    Cheyssac, Claire; Dina, Christian; Leprêtre, Frédéric

    2006-01-01

    .01 at D3S3686, P = 0.0001) was identified in a set of French families. To assess genetic variation underlying both age-of-onset QTL and our previous type 2 diabetes linkage in a 3.87-Mb interval, we explored 36 single nucleotide polymorphisms (SNPs) in two biologically relevant candidate genes for glucose...... homeostasis, kininogen (KNG1), and eukaryotic translation initiation factor 4alpha2 (EIF4A2). Analysis of 148 families showed significant association of a frequent SNP, rs266714, located 2.47 kb upstream of EIF4A2, with familial type 2 diabetes (family-based association test, P = 0.0008) and early age......RNA translation and protein synthesis rate in pancreatic beta-cells, and our data indicates that EIF4A2 is downregulated by high glucose in rat beta-INS832/13 cells. The potential role of EIF4A2 in glucose homeostasis and its putative contribution to type 2 diabetes in the presence of metabolic stress...

  11. Mucin-type O-glycosylation is controlled by short- and long-range glycopeptide substrate recognition that varies among members of the polypeptide GalNAc transferase family

    DEFF Research Database (Denmark)

    Revoredo, Leslie; Wang, Shengjun; Bennett, Eric Paul

    2016-01-01

    A large family of UDP-GalNAc:polypeptide GalNAc transferases (ppGalNAc-Ts) initiates and defines sites of mucin-type Ser/Thr-O-GalNAc glycosylation. Family members have been classified into peptide- and glycopeptide-preferring subfamilies, although both families possess variable activities agains...

  12. Impaired fat oxidation after a single high-fat meal in insulin-sensitive nondiabetic individuals with a family history of type 2 diabetes.

    Science.gov (United States)

    Heilbronn, Leonie K; Gregersen, Søren; Shirkhedkar, Deepali; Hu, Dachun; Campbell, Lesley V

    2007-08-01

    Individuals with insulin resistance and type 2 diabetes have an impaired ability to switch appropriately between carbohydrate and fatty acid oxidation. However, whether this is a cause or consequence of insulin resistance is unclear, and the mechanism(s) involved in this response is not completely elucidated. Whole-body fat oxidation and transcriptional regulation of genes involved in lipid metabolism in skeletal muscle were measured after a prolonged fast and after consumption of either high-fat (76%) or high-carbohydrate (76%) meals in individuals with no family history of type 2 diabetes (control, n = 8) and in age- and fatness-matched individuals with a strong family history of type 2 diabetes (n = 9). Vastus lateralis muscle biopsies were performed before and 3 h after each meal. Insulin sensitivity and fasting measures of fat oxidation were not different between groups. However, subjects with a family history of type 2 diabetes had an impaired ability to increase fatty acid oxidation in response to the high-fat meal (P FAT)/CD36 (P fat meal in both groups, but it was not changed after the high-carbohydrate meal. In conclusion, an impaired ability to increase fatty acid oxidation precedes the development of insulin resistance in genetically susceptible individuals. PGC1alpha and FAT/CD36 are likely candidates in mediating this response.

  13. Smooth School Transitions: Tips for Military Families

    Science.gov (United States)

    ... All Around Family Life Family Life Family Life Medical Home Family Dynamics Media Work & Play Getting Involved in Your ... Word Shop AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care Communication & Discipline Types of ...

  14. Identification of Heat Shock Protein families and J-protein types by incorporating Dipeptide Composition into Chou's general PseAAC.

    Science.gov (United States)

    Ahmad, Saeed; Kabir, Muhammad; Hayat, Maqsood

    2015-11-01

    Heat Shock Proteins (HSPs) are the substantial ingredients for cell growth and viability, which are found in all living organisms. HSPs manage the process of folding and unfolding of proteins, the quality of newly synthesized proteins and protecting cellular homeostatic processes from environmental stress. On the basis of functionality, HSPs are categorized into six major families namely: (i) HSP20 or sHSP (ii) HSP40 or J-proteins types (iii) HSP60 or GroEL/ES (iv) HSP70 (v) HSP90 and (vi) HSP100. Identification of HSPs family and sub-family through conventional approaches is expensive and laborious. It is therefore, highly desired to establish an automatic, robust and accurate computational method for prediction of HSPs quickly and reliably. Regard, a computational model is developed for the prediction of HSPs family. In this model, protein sequences are formulated using three discrete methods namely: Split Amino Acid Composition, Pseudo Amino Acid Composition, and Dipeptide Composition. Several learning algorithms are utilized to choice the best one for high throughput computational model. Leave one out test is applied to assess the performance of the proposed model. The empirical results showed that support vector machine achieved quite promising results using Dipeptide Composition feature space. The predicted outcomes of proposed model are 90.7% accuracy for HSPs dataset and 97.04% accuracy for J-protein types, which are higher than existing methods in the literature so far. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  15. A novel mutation in the MITF may be digenic with GJB2 mutations in a large Chinese family of Waardenburg syndrome type II.

    Science.gov (United States)

    Yan, Xukun; Zhang, Tianyu; Wang, Zhengmin; Jiang, Yi; Chen, Yan; Wang, Hongyan; Ma, Duan; Wang, Lei; Li, Huawei

    2011-12-20

    Waardenburg syndrome type II (WS2) is associated with syndromic deafness. A subset of WS2, WS2A, accounting for approximately 15% of patients, is attributed to mutations in the microphthalmia-associated transcription factor (MITF) gene. We examined the genetic basis of WS2 in a large Chinese family. All 9 exons of the MITF gene, the single coding exon (exon 2) of the most common hereditary deafness gene GJB2 and the mitochondrial DNA (mtDNA) 12S rRNA were sequenced. A novel heterozygous mutation c.[742_743delAAinsT;746_747delCA] in exon 8 of the MITF gene co-segregates with WS2 in the family. The MITF mutation results in a premature termination codon and a truncated MITF protein with only 247 of the 419 wild type amino acids. The deaf proband had this MITF gene heterozygous mutation as well as a c.[109G>A]+[235delC] compound heterozygous pathogenic mutation in the GJB2 gene. No pathogenic mutation was found in mtDNA 12S rRNA in this family. Thus, a novel compound heterozygous mutation, c.[742_743delAAinsT;746_747delCA] in MITF exon 8 was the key genetic reason for WS2 in this family, and a digenic effect of MITF and GJB2 genes may contribute to deafness of the proband. Copyright © 2011. Published by Elsevier Ltd.

  16. The development of postinstitutionalized versus parent-reared Russian children as a function of age at placement and family type.

    Science.gov (United States)

    McCall, Robert B; Muhamedrahimov, Rifkat J; Groark, Christina J; Palmov, Oleg I; Nikiforova, Natalia V; Salaway, Jennifer; Julian, Megan M

    2016-02-01

    A total of 149 children, who spent an average of 13.8 months in Russian institutions, were transferred to Russian families of relatives and nonrelatives at an average age of 24.7 months. After residing in these families for at least 1 year (average = 43.2 months), parents reported on their attachment, indiscriminately friendly behavior, social-emotional competencies, problem behaviors, and effortful control when they were 1.5-10.7 years of age. They were compared to a sample of 83 Russian parents of noninstitutionalized children, whom they had reared from birth. Generally, institutionalized children were rated similarly to parent-reared children on most measures, consistent with substantial catch-up growth typically displayed by children after transitioning to families. However, institutionalized children were rated more poorly than parent-reared children on certain competencies in early childhood and some attentional skills. There were relatively few systematic differences associated with age at family placement or whether the families were relatives or nonrelatives. Russian parent-reared children were rated as having more problem behaviors than the US standardization sample, which raises cautions about using standards cross-culturally.

  17. Adolescent and parent diabetes distress in type 1 diabetes: the role of self-efficacy, perceived consequences, family responsibility and adolescent-parent discrepancies.

    Science.gov (United States)

    Law, G Urquhart; Walsh, Jennifer; Queralt, Victoria; Nouwen, Arie

    2013-04-01

    To examine the association of adolescent and parent diabetes distress with perceived consequences, dietary self-efficacy, and discrepancies in diabetes family responsibility, in type 1 diabetes (T1D). 203 adolescents with T1D, aged 12-18, and their parents completed self-report questionnaires cross-sectionally. Higher HbA1c, greater perceived negative consequences of diabetes, and reduced self-efficacy predicted adolescent diabetes distress. Higher HbA1c predicted parental diabetes distress, as did diabetes family responsibility disagreements when both family members claimed responsibility, and parents' perception of reduced adolescent self-efficacy. Dietary self-efficacy and perceived negative consequences of diabetes are important factors to consider in assessing and managing adolescent diabetes distress. Perceptions of family responsibility for self-care tasks and parental confidence in adolescents' self-management have implications for parental diabetes distress. Clinical implications support long-held recommendations of taking a family-perspective of T1D care. Copyright © 2012 Elsevier Inc. All rights reserved.

  18. Comparison of clinical features between suspected familial colorectal cancer type X and Lynch syndrome in Japanese patients with colorectal cancer: a cross-sectional study conducted by the Japanese Society for Cancer of the Colon and Rectum.

    Science.gov (United States)

    Yamaguchi, Tatsuro; Furukawa, Yoichi; Nakamura, Yusuke; Matsubara, Nagahide; Ishikawa, Hideki; Arai, Masami; Tomita, Naohiro; Tamura, Kazuo; Sugano, Kokichi; Ishioka, Chikashi; Yoshida, Teruhiko; Moriya, Yoshihiro; Ishida, Hideyuki; Watanabe, Toshiaki; Sugihara, Kenichi

    2015-02-01

    The characteristics of familial colorectal cancer type X are poorly defined. Here we aimed to clarify the differences in clinical features between suspected familial colorectal cancer type X and Lynch syndrome in Japanese patients. We performed germline mutation analyses of mismatch repair genes in 125 patients. Patients who met the Amsterdam Criteria I but lacked mismatch repair gene mutations were diagnosed with suspected familial colorectal cancer type X. We identified 69 patients with Lynch syndrome and 25 with suspected familial colorectal cancer type X. The frequencies of gastric and extracolonic Lynch syndrome-associated cancers were lower with suspected familial colorectal cancer type X than with Lynch syndrome. The number of organs with Lynch syndrome-associated cancer was significantly lower with suspected familial colorectal cancer type X than with Lynch syndrome. The cumulative incidence of extracolonic Lynch syndrome-associated cancer was significantly lower with suspected familial colorectal cancer type X than with Lynch syndrome. We estimated that the median cancer risk in 60-year-old patients with Lynch syndrome was 89, 36 and 24% for colorectal, endometrial and gastric cancers, respectively. Analyses of family members, including probands, revealed that the median age at diagnosis of extracolonic Lynch syndrome-associated cancer was significantly older with suspected familial colorectal cancer type X than with Lynch syndrome. The frequency of extracolonic Lynch syndrome-associated cancer was significantly lower with suspected familial colorectal cancer type X than with Lynch syndrome. A significant difference in extracolonic Lynch syndrome-associated cancer was evident between suspected familial colorectal cancer type X and Lynch syndrome. © The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  19. Competitiveness of Family Businesses

    NARCIS (Netherlands)

    M.A.A.M. Leenders (Mark); E. Waarts (Eric)

    2001-01-01

    textabstractThe purpose of this study is to systematically examine the advantages and disadvantages of different types of family businesses. We distinguish four different types of family businesses based on their family and business orientation: (1) House of Business, (2) Family Money Machine, (3)

  20. Development of Family-Based Dietary Self-Management Support Program on Dietary Behaviors in Patients with Type 2 Diabetes Mellitus in Indonesia: A Literature Review

    Directory of Open Access Journals (Sweden)

    Aklima Aklima

    2012-08-01

    -solving strategies, and (5 goal-setting and action planning by assisting the patient to write the goals and action plan on a specially prepared form. All of these sessions would involve the patient‟s family. Follow-up visits may be needed to evaluate the dietary behaviors of patients. Conclusion: The collaboration of patients, family and health care professionals can have a positive impact on the dietary self-management behaviors of patients with T2DM. Further study is needed, as there is a growing awareness of the important role in diabetes management of integrating family support into routine diabetes management. Key words: Type 2 diabetes mellitus, dietary behaviors, self-management, and family support.

  1. A family with autosomal dominant mutilating neuropathy not linked to either Charcot-Marie-Tooth disease type 2B (CMT2B) or hereditary sensory neuropathy type I (HSN I) loci.

    Science.gov (United States)

    Bellone, Emilia; Rodolico, Carmelo; Toscano, Antonio; Di Maria, Emilio; Cassandrini, Denise; Pizzuti, Antonio; Pigullo, Simona; Mazzeo, Anna; Macaione, Vincenzo; Girlanda, Paolo; Vita, Giuseppe; Ajmar, Franco; Mandich, Paola

    2002-03-01

    Sensory loss and ulcero-mutilating features have been observed in hereditary sensory neuropathy type I and in hereditary motor and sensory neuropathy type IIB, also referred as Charcot-Marie-Tooth disease type 2B. To date two loci associated with ulcero-mutilating neuropathy have been described: CMT2B at 3q13-q22 and HSN I at 9q22.1-q22.3. We performed linkage analysis with chromosomal markers representing the hereditary sensory neuropathy type I and Charcot-Marie-Tooth disease type 2B loci on an Italian family with a severe distal sensory loss leading to an ulcero-mutilating peripheral neuropathy. Negative likelihood-of-odds scores excluded any evidence of linkage to both chromosome 3q13 and chromosome 9q22 markers, confirming the genetic heterogeneity of this clinical entity and the presence of a third locus responsible for ulcero-mutilating neuropathies.

  2. [The types of matrimonial relations and personal characteristics of married couples in the families of men suffering from alcoholism].

    Science.gov (United States)

    Rozhnova, T M

    2007-02-01

    The family of patient suffering from alcoholism was investigated form the standpoints of systemic analysis, that allowed revealing the leading personal characteristics of married couples. The men suffering from alcoholism are characterized by weak will, inclination to dependence, disregard of behavioral social norms, increased excitability and tendency to frustration in combination with high level of aggressiveness against the background of decreased masculine and prevailing feminine characteristics. Co-dependent wives of men suffering from alcoholism are characterized by predominance, observance of social norms, pronounced autoagression and orientation to masculine characteristics against the background of high indices of both femininity and masculinity. Such combination of married couples' personal characteristics forms the basis for development of dysfunctional relations in a family of man suffering from alcoholism. The families where husband and wife had no alcohol dependence, with harmonic functional relations served as the control group.

  3. A splice-site mutation affecting the paired box of PAX3 in a three generation family with Waardenburg syndrome type I (WS1).

    Science.gov (United States)

    Attaie, A; Kim, E; Wilcox, E R; Lalwani, A K

    1997-06-01

    Waardenburg syndrome, an autosomal dominant disorder characterized by sensorineural hearing loss, pigmentary disturbances and other developmental defects, is the most frequent form of congenital deafness in humans. Mutations in the PAX3 gene, a transcription factor expressed during embryonic development, is associated with WS types I and III. Here we report the identification of a novel acceptor splice site mutation (86-2 A-->G) in the paired domain of the human PAX3 gene causing WS type I in a three generation family.

  4. Soluble Forms of Intercellular and Vascular Cell Adhesion Molecules Independently Predict Progression to Type 2 Diabetes in Mexican American Families.

    Directory of Open Access Journals (Sweden)

    Hemant Kulkarni

    Full Text Available While the role of type 2 diabetes (T2D in inducing endothelial dysfunction is fairly well-established the etiological role of endothelial dysfunction in the onset of T2D is still a matter of debate. In the light of conflicting evidence in this regard, we conducted a prospective study to determine the association of circulating levels of soluble intercellular adhesion molecule 1 (sICAM-1 and soluble vessel cell adhesion molecule 1 (sVCAM-1 with incident T2D.Data from this study came from 1,269 Mexican Americans of whom 821 initially T2D-free individuals were longitudinally followed up in the San Antonio Family Heart Study. These individuals were followed for 9752.95 person-years for development of T2D. Prospective association of sICAM-1 and sVCAM-1 with incident T2D was studied using Kaplan-Meier survival plots and mixed effects Cox proportional hazards modeling to account for relatedness among study participants. Incremental value of adhesion molecule biomarkers was studied using integrated discrimination improvement (IDI and net reclassification improvement (NRI indexes.Decreasing median values for serum concentrations of sICAM-1 and sVCAM-1 were observed in the following groups in this order: individuals with T2D at baseline, individuals who developed T2D during follow-up, individuals with prediabetes at baseline and normal glucose tolerant (NGT individuals who remained T2D-free during follow-up. Top quartiles for sICAM-1 and sVCAM-1 were strongly and significantly associated with homeostatic model of assessment--insulin resistance (HOMA-IR. Mixed effects Cox proportional hazards modeling revealed that after correcting for important clinical confounders, high sICAM-1 and sVCAM-1 concentrations were associated with 2.52 and 1.99 times faster progression to T2D as compared to low concentrations, respectively. Individuals with high concentrations for both sICAM-1 and sVCAM-1 progressed to T2D 3.42 times faster than those with low values for both

  5. Parenting style and family type, but not child temperament, are associated with television viewing time in children at two years of age.

    Science.gov (United States)

    Howe, Anna S; Heath, Anne-Louise M; Lawrence, Julie; Galland, Barbara C; Gray, Andrew R; Taylor, Barry J; Sayers, Rachel; Taylor, Rachael W

    2017-01-01

    Despite the American Academy of Pediatrics (AAP) recommending that electronic media be avoided in children under two years of age, screen use is common in infants and toddlers. The aims of this study were to determine how parenting style, infant temperament, and family type are associated with television viewing in two-year-old children. Participants were from the Prevention of Overweight in Infancy (POI) randomized controlled trial (n = 802) (Dunedin, New Zealand). Demographic information was collected at baseline (late pregnancy), and television and other screen time assessed by questionnaire at 24 months of age. Parenting style (Parenting Practices Questionnaire), infant temperament (Colorado Childhood Temperament Inventory), and family type (7 categories) were reported by both parents. Data were available for 487 participants (61% of the original participants). Median television viewing was relatively low at 21 minutes per day, or 30 minutes in those watching television (82%). Children who watched television played with mobile phones (12% of children) or iPads/tablets (22% of children) more frequently than children who did not (6% of children). In terms of parenting style, children of more authoritarian mothers (β = 17, 95% CI: 6-27 minutes), more authoritarian partners (β = 14, 95% CI: 2-26 minutes), or more permissive mothers (β = 10, 95% CI: 3-17 minutes) watched significantly more television. No significant relationships were observed between child temperament and time watching television after adjustment for confounding variables. Children from "active" families (as rated by partners) watched 29 minutes less television each day (P = 0.002). Parenting style and family type were associated with television viewing time in young children, whereas child temperament was not.

  6. Evolution of the P-type II ATPase gene family in the fungi and presence of structural genomic changes among isolates of Glomus intraradices

    Directory of Open Access Journals (Sweden)

    Sanders Ian R

    2006-03-01

    Full Text Available Abstract Background The P-type II ATPase gene family encodes proteins with an important role in adaptation of the cell to variation in external K+, Ca2+ and Na2+ concentrations. The presence of P-type II gene subfamilies that are specific for certain kingdoms has been reported but was sometimes contradicted by discovery of previously unknown homologous sequences in newly sequenced genomes. Members of this gene family have been sampled in all of the fungal phyla except the arbuscular mycorrhizal fungi (AMF; phylum Glomeromycota, which are known to play a key-role in terrestrial ecosystems and to be genetically highly variable within populations. Here we used highly degenerate primers on AMF genomic DNA to increase the sampling of fungal P-Type II ATPases and to test previous predictions about their evolution. In parallel, homologous sequences of the P-type II ATPases have been used to determine the nature and amount of polymorphism that is present at these loci among isolates of Glomus intraradices harvested from the same field. Results In this study, four P-type II ATPase sub-families have been isolated from three AMF species. We show that, contrary to previous predictions, P-type IIC ATPases are present in all basal fungal taxa. Additionally, P-Type IIE ATPases should no longer be considered as exclusive to the Ascomycota and the Basidiomycota, since we also demonstrate their presence in the Zygomycota. Finally, a comparison of homologous sequences encoding P-type IID ATPases showed unexpectedly that indel mutations among coding regions, as well as specific gene duplications occur among AMF individuals within the same field. Conclusion On the basis of these results we suggest that the diversification of P-Type IIC and E ATPases followed the diversification of the extant fungal phyla with independent events of gene gains and losses. Consistent with recent findings on the human genome, but at a much smaller geographic scale, we provided evidence

  7. 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.

  8. Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation

    Science.gov (United States)

    Hoppmann, Julia; Gesing, Julia; Silve, Caroline; Leroy, Chrystel; Bertsche, Astrid; Hirsch, Franz Wolfgang; Kiess, Wieland; Pfäffle, Roland; Schuster, Volker

    2017-01-01

    Acrodysostosis is a very rare congenital multisystem condition characterized by skeletal dysplasia with severe brachydactyly, midfacial hypoplasia, and short stature, varying degrees of intellectual disability, and possible resistance to multiple G protein-coupled receptor signalling hormones. Two distinct subtypes are differentiated: acrodysostosis type 1 resulting from defects in protein kinase type 1-α regulatory subunit and acrodysostosis type 2 caused by mutations in phosphodiesterase 4D (PDE4D). Most cases are sporadic. We report on a rare multigenerational familial case of acrodysostosis type 2 due to a novel autosomal dominantly inherited PDE4D mutation. A 3.5-year-old boy presented with short stature, midfacial hypoplasia, severe brachydactyly, developmental delay, and behavioural problems. Laboratory investigations revealed mild thyrotropin resistance. His mother shared some characteristic features, such as midfacial hypoplasia and severe brachydactyly, but did not show short stature, intellectual disability or hormonal resistance. Genetic analysis identified the identical, novel heterozygous missense mutation of the PDE4D gene c.569C>T (p.Ser190Phe) in both patients. This case illustrates the significant phenotypic variability of acrodysostosis even within one family with identical mutations. Hence, a specific clinical diagnosis of acrodysostosis remains challenging because of great interindividual variability and a substantial overlap of the two subtypes as well as with other related Gsα-cAMP-signalling-linked disorders. PMID:28515031

  9. Attachment Styles and Enneagram Types: Development and Testing of an Integrated Typology for use in Marriage and Family Therapy

    OpenAIRE

    Arthur, Kristin Bedow

    2008-01-01

    This study developed and tested a new typology for use in Marriage and Family Therapy. The typology was created by integrating two already established typologies currently in use in MFT, the attachment style typology and the Enneagram typology. The attachment typology is based on attachment theory, a theory of human development that focuses on how infants and adults establish, monitor and repair attachment bonds. Differences in attachment style are associated with different kinds of relations...

  10. Genotype-phenotype analysis of a rare type of osteogenesis imperfecta in four Chinese families with WNT1 mutations.

    Science.gov (United States)

    Liu, Yi; Song, Lijie; Ma, Doudou; Lv, Fang; Xu, Xiaojie; Wang, Jianyi; Xia, Weibo; Jiang, Yan; Wang, Ou; Song, Yuwen; Xing, Xiaoping; Asan; Li, Mei

    2016-10-01

    Osteogenesis imperfecta (OI) is a rare inherited disease characterized by increased bone fragility and vulnerability to fractures. Recently, WNT1 is identified as a new candidate gene for OI, here we detect pathogenic mutations in WNT1 and analyze the genotype-phenotype association in four Chinese families with OI. We designed a targeted next generation sequencing panel with known fourteen OI-related genes. We applied the approach to detect pathogenic mutations in OI patients and confirmed the mutations with Sanger sequencing and cosegregation analysis. Clinical fractures, bone mineral density (BMD) and the other clinical manifestations were evaluated. We also observed the effects of bisphosphonates in OI patients with WNT1 mutations. Four compound heterozygous mutations (c.110T>C; c.505 G>T; c. 385G>A; c.506 G>A) in WNT1 were detected in three unrelated families. These four mutations had not been reported yet. A recurrent homozygous mutation (c.506dupG) was identified in the other two families. These patients had moderate to severe OI, white to blue sclera, absence of dentinogenesis imperfecta and no brain malformation. We did not observe clear genotype-phenotype correlation in WNT1 mutated OI patients. Though bisphosphonates increased BMD in WNT1 related OI patients, height did not increase and fracture continued. We reported four novel heterozygous variants and confirmed a previous reported WNT1 mutation in four Chinese families with a clinical diagnosis of OI. Our study expanded OI spectrum and confirmed moderate to severe bone fragility induced by WNT1 defects. Copyright © 2016 Elsevier B.V. All rights reserved.

  11. Type II autosomal dominant osteopetrosis: radiological features in two families containing five members with asymptomatic and uncomplicated disease

    Energy Technology Data Exchange (ETDEWEB)

    Fotiadou, Anastasia; Kiriakou, Vera; Tsitouridis, Ioannis [Papageorgiou Hospital, Radiology Department, Thessaloniki (Greece); Arvaniti, Maria [Genimatas Hospital, Radiology Department, Thessaloniki (Greece)

    2009-10-15

    In this study we analysed the imaging patterns in two families containing five members with asymptomatic and uncomplicated autosomal dominant osteopetrosis (ADO II), and we report new and uncommon radiological manifestations. These findings might be useful in the context of reducing the incidence of fractures and other orthopaedic complications. Diffuse pelvic sclerosis on radiographs was observed incidentally in two patients. Both cases were asymptomatic, and the patients had never suffered a fracture. The suggestion of ADO II was raised. A detailed medical history, an imaging survey, and a haematological study were obtained so that other rare causes of osteosclerosis could be ruled out. No genetic study was conducted. All their first-degree relatives were also examined. Bony sclerosis was observed in five patients, and the radiological findings were analysed. A not previously reported thickening of the skull base without cranial nerve palsy or optic nerve atrophy was revealed in all patients. Scoliosis was present in three of them. This has been reported previously only once in ADO II. No lower limb deformity was detected. This study provided information on the pattern of radiological features in familial asymptomatic ADO II. These data on new and rare imaging findings will increase the diagnostic awareness of physicians and will guide a thorough investigation of the entire family. This might result in a consequent decrease in the incidence of fractures and other orthopaedic complications. (orig.)

  12. Type II autosomal dominant osteopetrosis: radiological features in two families containing five members with asymptomatic and uncomplicated disease

    International Nuclear Information System (INIS)

    Fotiadou, Anastasia; Kiriakou, Vera; Tsitouridis, Ioannis; Arvaniti, Maria

    2009-01-01

    In this study we analysed the imaging patterns in two families containing five members with asymptomatic and uncomplicated autosomal dominant osteopetrosis (ADO II), and we report new and uncommon radiological manifestations. These findings might be useful in the context of reducing the incidence of fractures and other orthopaedic complications. Diffuse pelvic sclerosis on radiographs was observed incidentally in two patients. Both cases were asymptomatic, and the patients had never suffered a fracture. The suggestion of ADO II was raised. A detailed medical history, an imaging survey, and a haematological study were obtained so that other rare causes of osteosclerosis could be ruled out. No genetic study was conducted. All their first-degree relatives were also examined. Bony sclerosis was observed in five patients, and the radiological findings were analysed. A not previously reported thickening of the skull base without cranial nerve palsy or optic nerve atrophy was revealed in all patients. Scoliosis was present in three of them. This has been reported previously only once in ADO II. No lower limb deformity was detected. This study provided information on the pattern of radiological features in familial asymptomatic ADO II. These data on new and rare imaging findings will increase the diagnostic awareness of physicians and will guide a thorough investigation of the entire family. This might result in a consequent decrease in the incidence of fractures and other orthopaedic complications. (orig.)

  13. Familial Aggregation between the 14th and 21st Century and Type 2 Diabetes Risk in an Isolated Dutch Population

    NARCIS (Netherlands)

    de Visser, Kees L.; Landman, Gijs W. D.; Meyboom-de Jong, Betty; de Visser, Wim; te Meerman, Gerard J.; Bilo, Henk J. G.

    2015-01-01

    Introduction The development of type 2 diabetes results from an interaction of hereditary factors and environmental factors. This study aimed to investigate the contribution of interrelatedness to the risk of developing type 2 diabetes in an isolated Dutch population. Materials and Methods A

  14. A simple and rapid micromethod for genomic DNA extraction from jugal epithelial cells. Application to human lymphocyte antigen typing in one large family of atopic/asthmatic probands.

    Science.gov (United States)

    Aron, Y; Swierczewski, E; Lockhart, A

    1994-10-01

    We describe a rapid and reliable micromethod for DNA isolation from buccal epithelial cells from the interior mouth mucosa. This convenient, noninvasive method could be applied to genetic typing in a small number of cells (about 2000 cells per cheek). We have shown that DNA released by this method is suitable for further amplification by polymerase chain reaction (PCR). Using this protocol, coupled with the PCR-RFLP (restriction fragment length polymorphism) method, we analyzed the allelic sequence diversity of the human lymphocyte antigen (HLA) class II genes in an extended family of 33 persons containing 14 asthmatic or atopic members. Six of eight DQA1 alleles, and 11 DQB1, 20 DPB1, and 10 DR haplotypes could be identified in a single DNA sample. Our results suggest that the DR53 group haplotype is frequently associated with allergic asthma and atopy. The micromethod described here may be useful in genetic epidemiology, especially in family studies involving small children.

  15. A novel DFNB31 mutation associated with Usher type 2 syndrome showing variable degrees of auditory loss in a consanguineous Portuguese family.

    Science.gov (United States)

    Audo, Isabelle; Bujakowska, Kinga; Mohand-Saïd, Saddek; Tronche, Sophie; Lancelot, Marie-Elise; Antonio, Aline; Germain, Aurore; Lonjou, Christine; Carpentier, Wassila; Sahel, José-Alain; Bhattacharya, Shomi; Zeitz, Christina

    2011-01-01

    To identify the genetic defect of a consanguineous Portuguese family with rod-cone dystrophy and varying degrees of decreased audition. A detailed ophthalmic and auditory examination was performed on a Portuguese patient with severe autosomal recessive rod-cone dystrophy. Known genetic defects were excluded by performing autosomal recessive retinitis pigmentosa (arRP) genotyping microarray analysis and by Sanger sequencing of the coding exons and flanking intronic regions of eyes shut homolog-drosophila (EYS) and chromosome 2 open reading frame 71 (C2orf71). Subsequently, genome-wide homozygosity mapping was performed in DNA samples from available family members using a 700K single nucleotide polymorphism (SNP) microarray. Candidate genes present in the significantly large homozygous regions were screened for mutations using Sanger sequencing. The largest homozygous region (~11 Mb) in the affected family members was mapped to chromosome 9, which harbors deafness, autosomal recessive 31 (DFNB31; a gene previously associated with Usher syndrome). Mutation analysis of DFNB31 in the index patient identified a novel one-base-pair deletion (c.737delC), which is predicted to lead to a truncated protein (p.Pro246HisfsX13) and co-segregated with the disease in the family. Ophthalmic examination of the index patient and the affected siblings showed severe rod-cone dystrophy. Pure tone audiometry revealed a moderate hearing loss in the index patient, whereas the affected siblings were reported with more profound and early onset hearing impairment. We report a novel truncating mutation in DFNB31 associated with severe rod-cone dystrophy and varying degrees of hearing impairment in a consanguineous family of Portuguese origin. This is the second report of DFNB31 implication in Usher type 2.

  16. Aspartic acid at position 57 of the HLA-DQ beta chain protects against type I diabetes: a family study.

    OpenAIRE

    Morel, P A; Dorman, J S; Todd, J A; McDevitt, H O; Trucco, M

    1988-01-01

    One hundred seventy-two members from 27 randomly selected multiple case Caucasian families of patients with insulin-dependent diabetes mellitus (IDDM) were studied at the DNA level to ascertain the reliability of codon 57 of the HLA-DQ beta-chain gene as a disease protection/susceptibility marker. The analysis was carried out by polymerase chain reaction amplification of DNA encoding the first domain of the DQ beta chain and by dot blot analysis of the amplified material with allele-specific ...

  17. Risk factors for diabetes, but not for cardiovascular disease, are associated with family history of Type 2 diabetes in subjects from central Mexico.

    Science.gov (United States)

    Zamora-Ginez, Irma; Pérez-Fuentes, Ricardo; Baez-Duarte, Blanca G; Revilla-Monsalve, Cristina; Brambila, Eduardo

    2012-03-01

    Independent of obesity, family history of type 2 diabetes mellitus (FHT2DM) is another important risk factor for developing diabetes. To establish the association among FHT2DM, risk factors for diabetes and cardiovascular disease in subjects from central Mexico. Clinical and biochemical studies were performed in 383 first-degree relatives of patients with type 2 diabetes and 270 subjects unrelated to patients with type 2 diabetes-all subjects were from the city of Puebla in central Mexico. Logistic regressions were used to assess the association between FHT2DM and metabolic parameters. Cardiovascular risk was classified by dyslipidemia and the Framingham Risk Score (FRS). FHT2DM was associated with risk factors for diabetes, such as increased fasting insulin levels (OR = 1.731, 95% CI = 1.041-2.877), decreased insulin sensitivity (OR = 1.951, 95% CI = 1.236-3.080) and pre-diabetes (OR = 1.63, 95% CI = 1.14-2.33). FHT2DH was not associated with risk factors for cardiovascular disease, such as dyslipidemia (OR = 1.12, 95% CI = 0.70-1.79) and FRS (OR = 0.74, 95% CI = 0.40-1.36) when adjusted for gender, age, smoking and obesity. Diabetic risk factors, but not cardiovascular disease risk factors, are associated with a positive family history of diabetes in subjects from central Mexico, independent of the presence of obesity.

  18. The development of HEPT-type HIV non-nucleoside reverse transcriptase inhibitors and its implications for DABO family.

    Science.gov (United States)

    Chen, Wenmin; Zhan, Peng; Wu, Jingde; Li, Zhenyu; Liu, Xinyong

    2012-01-01

    1-[(2-hydroxyethoxy)methyl]-6-(phenylthio)thymine (HEPT) was discovered as the first HIV-1 non-nucleoside reverse transcriptase inhibitors (NNRTIs) in 1989. The research on HEPT derivatives (HEPTs) has been lasted for more than 20 years and HEPT family is probably the most investigated NNRTI. Extensive molecular modifications on HEPT have led to many highly potent compounds with broad-resistance spectrum and optimal pharmacokinetic profiles. Moreover, X-crystallographic studies of HEPTs/RT complexes revealed the binding mode of HEPTs and the action mechanism of NNRTI, which has greatly facilitated the design of novel NNRTIs. Recently, the development of HEPTs was accelerated by the application of the "follow-on"-based chemical evolution strategies, such as designed multiple ligands (DMLs) and molecular hybridization (MH). Herein, this article will provide an insight into the development of HEPTs, including structural modifications, crystal structure of RT complexed with HEPTs and its structure-activity relationship (SAR). Additionally, this review also covers the emerging HEPT related dual inhibitors and HEPT-pyridinone hybrids, as well as the contributions of HEPTs to the development of dihydro-alkoxy-benzyl-oxopyrimidine (DABO) family, thus highlighting the importance of HEPTs on the development of NNRTIs.

  19. Late-onset spastic paraplegia type 10 (SPG10) family presenting with bulbar symptoms and fasciculations mimicking amyotrophic lateral sclerosis.

    Science.gov (United States)

    Kaji, Seiji; Kawarai, Toshitaka; Miyamoto, Ryosuke; Nodera, Hiroyuki; Pedace, Lucia; Orlacchio, Antonio; Izumi, Yuishin; Takahashi, Ryosuke; Kaji, Ryuji

    2016-05-15

    Pathogenic mutations in the KIF5A-SPG10 gene, encoding the kinesin HC5A, can be associated with autosomal dominant hereditary spastic paraplegia (ADHSP). It accounts for about 10% of the complicated forms of ADHSP. Peripheral neuropathy, distal upper limb amyotrophy, and cognitive decline are the most common additional clinical features. We examined a 66-year-old Japanese woman manifesting gait disturbance and spastic dysarthria for 6years with positive family history. She showed evidence of upper and lower motor neuron involvement and fasciculations, thus mimicking amyotrophic lateral sclerosis (ALS). Genetic analysis revealed a heterozygous variant in KIF5A (c.484C>T, p.Arg162Trp) in 2 symptomatic members. The mutation was also identified in 4 asymptomatic members, including 2 elderly members aged over 78years. Electromyography in the 2 symptomatic members revealed evidence of lower motor neuron involvement and fasciculation potentials in distal muscles. This report describes the first known Asian family with a KIF5A mutation and broadens the clinical and electrophysiological spectrum associated with KIF5A-SPG10 mutations. Given that our cases showed pseudobulbar palsy, fasciculation and altered penetrance, KIF5A-SPG10 might well be considered as a differential diagnosis of sporadic ALS. Copyright © 2016 Elsevier B.V. All rights reserved.

  20. Differential expression of CK20, β-catenin, and MUC2/5AC/6 in Lynch syndrome and familial colorectal cancer type X

    DEFF Research Database (Denmark)

    Haraldsson, Stefan; Klarskov, Louise; Nilbert, Mef

    2017-01-01

    BACKGROUND: Hereditary non-polyposis colorectal cancer comprises Lynch syndrome and familial colorectal cancer type X (FCCTX). Differences in genetics, demographics and histopathology have been extensively studied. The purpose of this study is to characterize their immunoprofile of markers other...... than MMR proteins. METHODS: We compared the expression patterns of cytokeratins (CK7 and CK20), mucins (MUC2/5 AC/6), CDX2 and β-catenin in Lynch syndrome and FCCTX. RESULTS: Differences were identified for CK20 and nuclear β-catenin, which were significantly more often expressed in FCCTX than in Lynch...... syndrome (p Lynch syndrome tumors compared with FCCTX tumors (p = 0.001,

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

    Science.gov (United States)

    2012-01-01

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

  2. Is vitamin D hypothesis for schizophrenia valid? Independent segregation of psychosis in a family with vitamin-D-dependent rickets type IIA.

    Science.gov (United States)

    Ozer, Suzan; Uluşahin, Aylin; Ulusoy, Semra; Okur, Hamza; Coşkun, Turgay; Tuncali, Timur; Göğüş, Ahmet; Akarsu, A Nurten

    2004-03-01

    The vitamin D hypothesis of schizophrenia is a recent concept bringing together old observations on environmental risk factors and new findings on the neurodevelopmental effects of vitamin D. Candidate genes related to the vitamin D endocrine system have not yet been fully explored for this purpose. The coexistence of vitamin-D-dependent-rickets type II with alopecia (VDDR IIA) and different forms of psychosis in the same inbred family has provided us with an opportunity to investigate the presumed relationship between vitamin D deficiency and psychosis. Psychiatric examination and molecular genetic studies were performed in this family overloaded with psychotic disorders and VDDR IIA. Forty members were evaluated in order to describe their phenotypic features. The family was tested for a linkage to the chromosome 12q12-q14 region where the vitamin D receptor (VDR) gene is located. Psychosis was the common phenotype in the 18 psychiatrically affected members. Pedigree analysis did not show a cosegregation of psychosis and rickets. Lod scores were not significant to prove a linkage between psychosis and VDR locus. The authors concluded that (1) the neurodevelopmental consequences of vitamin D deficiency do not play a causative role in psychotic disorders, (2) these two syndromes are inherited independently, and (3) vitamin D deficiency does not act as a risk factor in subjects susceptible to psychosis.

  3. Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with waardenburg syndrome type I.

    Science.gov (United States)

    Sotirova, V N; Rezaie, T M; Khoshsorour, M M; Sarfarazi, M

    2000-03-01

    Waardenburg syndrome Type I (WS1) is an autosomal dominant disorder that has previously been associated with mutations in the PAX3 gene on the 2q35 region. In this study, we used an Iranian WS1 family with seven affected individuals in three generations. The phenotypic characteristics of the family include sensorineural deafness, dystopia canthorum, hypopigmented skin patches of the upper limbs, congenital white forelock, confluent white eyebrows, nonpigmented iris, poliosis, and hypopigmentation of the retina. Herein, we report a previously unidentified single-base substitution in exon II (C-->T at position 218) that results in a change of serine to leucine (S73L) in this family. This change was not observed in 100 chromosomes of healthy unrelated individuals. This mutation is within the PAX3 paired domain region, a structure that is highly conserved and implicated in DNA binding. This is the first identification of a PAX3 mutation for this phenotype in the Iranian population. This also provides additional confirmation for the involvement of this gene in the etiology of WS1.

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

    Science.gov (United States)

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

    2012-09-02

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

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

    Directory of Open Access Journals (Sweden)

    Eisenberger Tobias

    2012-09-01

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

  6. Restriction fragment length polymorphism of rRNA genes for molecular typing of members of the family Legionellaceae

    DEFF Research Database (Denmark)

    Bangsborg, J M; Gerner-Smidt, P; Colding, H

    1995-01-01

    Typing of Legionella pneumophila remains important in the investigation of outbreaks of Legionnaires' disease and in the control of organisms contaminating hospital water. We found that the discriminatory power of a nonradioactive ribotyping method could be improved by combining results obtained ...

  7. Identification of a new family of putative PD-(D/EXK nucleases with unusual phylogenomic distribution and a new type of the active site

    Directory of Open Access Journals (Sweden)

    Bujnicki Janusz M

    2005-02-01

    Full Text Available Abstract Background Prediction of structure and function for uncharacterized protein families by identification of evolutionary links to characterized families and known structures is one of the cornerstones of genomics. Theoretical assignment of three-dimensional folds and prediction of protein function even at a very general level can facilitate the experimental determination of the molecular mechanism of action and the role that members of a given protein family fulfill in the cell. Here, we predict the three-dimensional fold and study the phylogenomic distribution of members of a large family of uncharacterized proteins classified in the Clusters of Orthologous Groups database as COG4636. Results Using protein fold-recognition we found that members of COG4636 are remotely related to Holliday junction resolvases and other nucleases from the PD-(D/EXK superfamily. Structure modeling and sequence analyses suggest that most members of COG4636 exhibit a new, unusual variant of the putative active site, in which the catalytic Lys residue migrated in the sequence, but retained similar spatial position with respect to other functionally important residues. Sequence analyses revealed that members of COG4636 and their homologs are found mainly in Cyanobacteria, but also in other bacterial phyla. They undergo horizontal transfer and extensive proliferation in the colonized genomes; for instance in Gloeobacter violaceus PCC 7421 they comprise over 2% of all protein-encoding genes. Thus, members of COG4636 appear to be a new type of selfish genetic elements, which may fulfill an important role in the genome dynamics of Cyanobacteria and other species they invaded. Our analyses provide a platform for experimental determination of the molecular and cellular function of members of this large protein family. Conclusion After submission of this manuscript, a crystal structure of one of the COG4636 members was released in the Protein Data Bank (code 1wdj

  8. Identification of five novel mutations in the long isoform of the USH2A gene in Chinese families with Usher syndrome type II.

    Science.gov (United States)

    Dai, Hanjun; Zhang, Xiaohui; Zhao, Xin; Deng, Ting; Dong, Bing; Wang, Jingzhao; Li, Yang

    2008-01-01

    Usher syndrome type II (USH2) is the most common form of Usher syndrome, an autosomal recessive disorder characterized by moderate to severe hearing loss, postpuberal onset of retinitis pigmentosa (RP), and normal vestibular function. Mutations in the USH2A gene have been shown to be responsible for most cases of USH2. To further elucidate the role of USH2A in USH2, mutation screening was undertaken in three Chinese families with USH2. Three unrelated Chinese families, consisting of six patients and 10 unaffected relatives, were examined clinically, and 100 normal Chinese individuals served as controls. Genomic DNA was extracted from the venous blood of all participants. The coding region (exons 2-72), including the intron-exon boundary of USH2A, was amplified by polymerase chain reaction (PCR). The PCR products amplified from the three probands were analyzed using direct sequencing to screen sequence variants. Whenever substitutions were identified in a patient, restriction fragment length polymorphism analysis, or single strand conformation polymorphism analysis was performed on all available family members and the control group. Fundus examination revealed typical fundus features of RP, including narrowing of the vessels, bone-speckle pigmentation, and waxy optic discs. The ERG wave amplitudes of three probands were undetectable. Audiometric tests indicated moderate to severe sensorineural hearing impairment. Vestibular function was normal. Five novel mutations (one small insertion, one small deletion, one nonsense, one missense, and one splice site) were detected in three families after sequence analysis of USH2A. Of the five mutations, four were located in exons 22-72, specific to the long isoform of USH2A. The mutations found in our study broaden the spectrum of USH2A mutations. Our results further indicate that the long isoform of USH2A may harbor even more mutations of the USH2A gene.

  9. Phylogenetic Analysis of C Type Lectin from Toxocara canis Infective Larvae and Comparison with the C Type Lectin Fam-ily in the Immune System of Mouse and Human

    Directory of Open Access Journals (Sweden)

    Fazeleh ETEBAR

    2018-03-01

    Full Text Available Background: C type lectin (CTL family is a type of calcium-dependent proteins found in vertebrates and invertebrates. The objective of this study was to perform a comparative analysis and phylogenetic inferring for understanding the similarities and differences of carbohydrate recognition domain (CRD domain of Toxocara canis CTL and other nematodes, and similar C type lectin involved in the immune system of mouse and human as their host.Methods: The female T. canis was retrieved from the 2-6 months puppies (Department of Parasitology, Faculty of Veterinary Medicine, University of Tehran, 2015. To collect T. canis eggs, the worms were cultured for 5 d until they were embryonated. The hatching process was accelerated for collecting the stage 2 larvae, and the larvae were cultured for a week. A cDNA library was made from the total mRNA of T. canis infective larvae. The PCR amplification for C type lectin gene was performed and the amino acids were analyzed using the alignment method and the construction of phylogenetic tree.Results: The suspension sample maintained at 30 ºC for four weeks could embryonate 90%-100% of eggs. T. canis CTL gene was 657 bp in length and encoded a protein with 219 amino acids. The CTL of species of Strongylida order were closely placed in the tree, whereas the members of Ascaridida orders were located in a separate branch. High levels of similarity (36%-44% and conservation of C type lectin from T. canis with mouse and human C type lectins. Its C type lectin showed a higher similarity with asialoglycoprotein receptor (ASGPR, macrophage lectin, dendritic cell-specific intercellular adhesion molecule 3-grabbing nonintegrin (DC-SIGN, MINCLE receptor of mouse and human.Conclusion: Analysis of CRD domain of C type lectin protein could make a better understanding of their role in the interaction of nematode parasite with their hosts.

  10. Single nucleotide polymorphism-based molecular typing of M. leprae from multicase families of leprosy patients and their surroundings to understand the transmission of leprosy.

    Science.gov (United States)

    Turankar, R P; Lavania, M; Chaitanya, V S; Sengupta, U; Darlong, J; Darlong, F; Siva Sai, K S R; Jadhav, R S

    2014-03-01

    The exact mode of transmission of leprosy is not clearly understood; however, many studies have demonstrated active transmission of leprosy around a source case. Families of five active leprosy cases and their household contacts were chosen from a high endemic area in Purulia. Fifty-two soil samples were also collected from different areas of their houses. DNA was extracted from slit-skin smears (SSS) and soil samples and the Mycobacterium leprae-specific RLEP (129 bp) region was amplified using PCR. Molecular typing of M. leprae was performed for all RLEP PCR-positive samples by single nucleotide polymorphism (SNP) typing and confirmation by DNA sequencing. SSS of these five patients and six out of the total 28 contacts were PCR positive for RLEP whereas 17 soil samples out of 52 showed the presence of M. leprae DNA. SNP typing of M. leprae from all RLEP PCR-positive subjects (patients and smear-positive contacts) and 10 soil samples showed the SNP type 1 genotype. M. leprae DNA from the five leprosy patients and the six contacts was further subtyped and the D subtype was noted in all patients and contacts, except for one contact where the C subtype was identified. Typing followed by subtyping of M. leprae clearly revealed that either the contacts were infected by the patients or both patients and contacts had the same source of infection. It also revealed that the type of M. leprae in the soil in the inhabited areas where patients resided was also of the same type as that found in patients. © 2013 The Authors Clinical Microbiology and Infection © 2013 European Society of Clinical Microbiology and Infectious Diseases.

  11. Association of the TPO gene in Colombian families with type 1 diabetes Asociación del gen TPO en familias colombianas con la diabetes tipo 1

    Directory of Open Access Journals (Sweden)

    Federico Uribe Londoño

    2009-11-01

    Full Text Available

    family: 'Times New Roman','serif'; font-size: 12pt; mso-ansi-language: EN-US;">We have found linkage and association of type 1 diabetes (T1D to 2p25. The TPO gene lies within this region. Our aim was to test the association of this gene with the susceptibility to T1D in a group of Colombian families, all of them originated in Antioquia, a special population in northwestern Colombia. One hundred familial trios with type 1 diabetes (T1D were analyzed. They had already been studied for anti-glutamic acid descarboxilase (GAD antibodies and the marker locus D2S319.

    family: 'Times New Roman','serif'; font-size: 12pt; mso-ansi-language: EN-US;">For further characterization, the probands were tested for autoantibodies against insulin, TPO and thyrosine phosphatase 2 (IA-2. Two single nucleotide polymorphisms (SNPs (rs4927611 and rs732609 were tested in TPO. These two markers were chosen considering that the polymorphism changes the encoded amino-acid and a minor allele frequency, MAF, ≥ 0.3. SNP typing was carried out by means of the polymerase chain reaction/restriction fragment length polymorphisms (PCR-RFLP and the tetraprimer amplification  refractory   mutation    system  (ARMS-PCR methods. Hardy-Weinberg family: 'Times New Roman','serif'; font-size: 12pt; mso-ansi-language: EN-US;">equilibrium (HWE and linkage disequilibrium (LD analyses were separately tested on both parents and probands. Genetic association was tested by the

  12. Family Genericity

    DEFF Research Database (Denmark)

    Ernst, Erik

    2006-01-01

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

  13. The potential impact of family history of metabolic syndrome and risk of type 2 diabetes mellitus: In a highly endogamous population.

    Science.gov (United States)

    Bener, Abdulbari; Darwish, Sarah; Al-Hamaq, Abdulla O A; Yousafzai, Mohammad T; Nasralla, Eman A

    2014-03-01

    This study aims to determine the potential impact of positive family history of Metabolic Syndrome (MetS) among two generations, on developing Type 2 Diabetes Mellitus (T2DM) and the potential relation of consanguineous marriage among patients with MetS to the risk of developing T2DM among a sample of Qataris. A cross-sectional study. Primary healthcare (PHC) centers. The survey and measurement were conducted from April 2011 to December 2012 among Qatari nationals above 20 years of age. Of the 2,182 subjects, who were approached to participate in the study, 1,552 (71%) gave their consent. Face-to-face interviews were conducted using a structured questionnaire followed by anthropometric measurements and laboratory tests. Metabolic syndrome was defined using the National Cholesterol Education Program-Third Adult Treatment Panel (ATP III) as well as International Diabetes Federation (IDF). Overall, the prevalence of MetS was 26.2% according to ATP III and 36.9% according to IDF (P family history for MetS was significantly higher in MetS patients with T2DM as compared to those without T2DM (46.7% vs. 33.8%; P = 0.009). The proportion of positive family history of MetS among fathers (35% vs. 21.9%; P = 0.005), mothers (30.5% vs. 18.8%; P = 0.008), maternal aunt (18.3% vs. 11.2%; P = 0.055), and maternal grand father (19.5% vs. 10%; P = 0.010) were significantly higher in MetS patients with T2DM as compared to the counterpart. The proportion of consanguineous marriages was almost two times higher among MetS patients with T2DM as compared to those without T2DM (80.9% vs. 41.9%; P Family history of MetS among parents, maternal aunt, maternal grandfather, and consanguineous marriages among patients of MetS are significantly associated with the development of T2DM in Qatar. These results support the necessity of earlier screening for T2DM among MetS patients with positive family history of MetS.

  14. Activity-Dependent Calcium, Oxygen, and Vascular Responses in a Mouse Model of Familial Hemiplegic Migraine Type 1

    DEFF Research Database (Denmark)

    Khennouf, Lila; Gesslein, Bodil; Lind, Barbara Lykke

    2016-01-01

    it with assessment of local field potentials by electrophysiological recordings, cerebral blood flow by laser Doppler flowmetry, and oxygen consumption with measurement of the oxygen tissue tension. Results: During spreading depression, the evoked increase in cytosolic Ca2+ was larger and faster in FHM1 mice than...... wild-type (WT) mice. It was accompanied by larger increases in oxygen consumption in FHM1 mice, leading to tissue anoxia, but moderate hypoxia, in WT mice. In comparison, before CSD, Ca2+ and hemodynamic responses to somatosensory stimulations were smaller in FHM1 mice than WT mice and almost abolished...... after CSD. The CSD-induced Ca2+ changes were mitigated by the CaV2.1 gating modifier, tert-butyl dihydroquinone. Interpretation: Our findings suggest that tissue anoxia might be a mechanism for prolonged aura in FHM1. Reduced Ca2+ signals during normal network activity in FHM1 as compared to WT mice may...

  15. Characterization of the factor VIII defect in 147 patients with sporadic hemophilia A: Family studies indicate a mutation type-dependent sex ratio of mutation frequencies

    Energy Technology Data Exchange (ETDEWEB)

    Becker, J.; Schmidt, W.; Olek, K. [Univ. of Bonn (Germany)] [and others

    1996-04-01

    The clinical manifestation of hemophilia A is caused by a wide range of different mutations. In this study the factor VIII genes of 147 severe hemophilia A patients-all exclusively from sporadic families-were screened for mutations by use of the complete panel of modern DNA techniques. The pathogenous defect could be characterized in 126 patients (85.7%). Fifty-five patients (37.4%) showed a F8A-gene inversion, 47 (32.0%) a point mutation, 14 (9.5%) a small deletion, 8 (5.4%) a large deletion, and 2 (1.4%) a small insertion. Further, four (2.7%) mutations were localized but could not be sequenced yet. No mutation could be identified in 17 patients (11.6%). Sixteen (10.9%) of the P identified mutations occurred in the B domain. Four of these were located in an adenosine nucleotide stretch at codon 1192, indicating a mutation hotspot. Somatic mosaicisms were detected in 3 (3.9%) of 76 patients` mothers, comprising 3 of 16 de novo mutations in the patients` mothers. Investigation of family relatives allowed detection of a de novo mutation in 16 of 76 two-generation and 28 of 34 three-generation families. On the basis of these data, the male:female ratio of mutation frequencies (k) was estimated as k = 3.6. By use of the quotients of mutation origin in maternal grandfather to patient`s mother or to maternal grandmother, k was directly estimated as k = 15 and k = 7.5, respectively. Considering each mutation type separately, we revealed a mutation type-specific sex ratio of mutation frequencies. Point mutations showed a 5-to-10-fold-higher and inversions a >10-fold- higher mutation rate in male germ cells, whereas deletions showed a >5-fold-higher mutation rate in female germ cells. Consequently, and in accordance with the data of other diseases like Duchenne muscular dystrophy, our results indicate that at least for X-chromosomal disorders the male:female mutation rate of a disease is determined by its proportion of the different mutation types. 68 refs., 1 fig., 5 tabs.

  16. Urocortin II: A member of the corticotropin-releasing factor (CRF) neuropeptide family that is selectively bound by type 2 CRF receptors

    Science.gov (United States)

    Reyes, T. M.; Lewis, K.; Perrin, M. H.; Kunitake, K. S.; Vaughan, J.; Arias, C. A.; Hogenesch, J. B.; Gulyas, J.; Rivier, J.; Vale, W. W.; Sawchenko, P. E.

    2001-01-01

    Here we describe the cloning and initial characterization of a previously unidentified CRF-related neuropeptide, urocortin II (Ucn II). Searches of the public human genome database identified a region with significant sequence homology to the CRF neuropeptide family. By using homologous primers deduced from the human sequence, a mouse cDNA was isolated from whole brain poly(A)+ RNA that encodes a predicted 38-aa peptide, structurally related to the other known mammalian family members, CRF and Ucn. Ucn II binds selectively to the type 2 CRF receptor (CRF-R2), with no appreciable activity on CRF-R1. Transcripts encoding Ucn II are expressed in discrete regions of the rodent central nervous system, including stress-related cell groups in the hypothalamus (paraventricular and arcuate nuclei) and brainstem (locus coeruleus). Central administration of 1–10 μg of peptide elicits activational responses (Fos induction) preferentially within a core circuitry subserving autonomic and neuroendocrine regulation, but whose overall pattern does not broadly mimic the CRF-R2 distribution. Behaviorally, central Ucn II attenuates nighttime feeding, with a time course distinct from that seen in response to CRF. In contrast to CRF, however, central Ucn II failed to increase gross motor activity. These findings identify Ucn II as a new member of the CRF family of neuropeptides, which is expressed centrally and binds selectively to CRF-R2. Initial functional studies are consistent with Ucn II involvement in central autonomic and appetitive control, but not in generalized behavioral activation. PMID:11226328

  17. Association of the HindIII and S447X Polymorphisms in LPL Gene with Hypertension and Type 2 Diabetes in Mexican Families

    Directory of Open Access Journals (Sweden)

    Salvador Muñoz-Barrios

    2012-01-01

    Full Text Available Lipoprotein lipase (LPL is a key enzyme in lipid metabolismand is associatedwith obesity, dyslipidemias, hypertension (HTN and type 2 diabetes mellitus (T2DM. LPL gene polymorphisms can be related with the development of cardiovascular risk factors. The present study was conducted to analyze the relationship of the HindIII and S447X polymorphisms in LPL gene with cardiovascular risk factors in Mexican families. The study population comprised ninety members of 30 Mexican families, in which an index case had obesity, were included in the study. We evaluated the body composition by bioelectrical impedance. Peripheral blood samples were collected to determine biochemical parameters. Screening for both polymorphisms was made by PCR-RFLPs. In the parents, both polymorphisms were in Hardy-Weinberg’s equilibrium. We found that the genotype T/T of HindIII was associated with diastolic blood pressure ≧ 85 mmHg (OR = 1.1; p = 0.011, whereas the genotype C/C of S447X was associated with systolic blood pressure ≧ 130 mmHg (OR = 1.2; p < 0.001, diastolic blood pressure ≧ 85 mmHg (OR = 1.3; p < 0.001, T2DM (OR = 1.3; p < 0.001 and with increase of total cholesterol (β = 23.6 mg/mL; p = 0.03. These data suggest that the HindIII and S447X LPL gene polymorphisms can confer susceptibility for the development of hypertension and T2DM in Mexican families.

  18. An Examination of Family, Healthcare Professionals, and Peer Advice on Physical Activity Behaviors among Adolescents at High Risk for Type 2 Diabetes.

    Science.gov (United States)

    Amuta, Ann O; Jacobs, Wura; Barry, Adam E

    2017-07-01

    Studies have shown that many college students do not meet the recommended daily physical activity (PA) levels, and about 22% of these students are overweight. Given that engaging in PA is a protective behavior against many chronic conditions, it is imperative to understand what sources of information/advice to engage in PA is most influential. Hence, the purpose of this study was to examine the relative impact of different sources of advice regarding exercise and PA on actual PA engagement among obese/overweight adolescents. Using data from 319 overweight/obese college students, multivariate regression analyses were conducted to examine which source of advice (from parents, peers, or healthcare provider) to engage in PA was associated with PA behavior among these adolescents. Influence of type 2 diabetes (T2D) family history on PA behavior was also examined. Moderate and vigorous PA behavior was more likely among obese/overweight adolescents who received advice to exercise or engage in PA from their peers (B = 200.85, β = 0.193, p = 0.001; B = 121.19, β = 0.145, p = 0.014). Overweight/obese adolescents with a T2D family history were more likely to walk compared with those without a T2D family history (χ 2  = 12.97, p = 0.000). Findings suggest that although healthcare professionals advise obese/overweight adolescents, those who received advice regarding PA behavior from their peers were more likely to heed the advice and exercise/engage in PA. In essence, intervention efforts should focus on employing peer ambassadors to counsel other adolescents on the importance of PA.

  19. The Relationship Between Maternal Awareness, Socioeconomic Situation of Families and Metabolic Control in Children With Type 1 Diabetes Miletus in an Iranian Population

    Directory of Open Access Journals (Sweden)

    Soheilipour

    2015-08-01

    Full Text Available Background Type 1 diabetes mellitus (T1DM is one of the most common chronic pediatric conditions, with potentially life-threatening sequels. However, good metabolic control can protect the patients against sequels. Objectives The aim of this study was to examine the relationship between awareness of the mothers about this disease on improving diabetic children metabolic control and also, to examine the relationship between socioeconomic situations of families and control of diabetes in this group of patients. Patients and Methods This is a cross-sectional descriptive analytic study on 80 diabetic children and their mothers, who were registered in the diabetes association of Iran, for outpatient control of disease. Diabetes knowledge was measured by Michigan diabetes knowledge test and glycemic control was assessed by glycosylated hemoglobin (HbA1c. To assess the socio-economic status of a diabetic child’s family, educational level, occupational and marital status of parents were asked and the socioeconomic status (SES was evaluated with Hollingshed four-factor index of SES. Results Mothers’ mean knowledge score was 17.72, children’s mean HbA1c was 7.77 and mean of SES was 27.89. There was no significant correlation between children’s HbA1c and mother’s SES. Also, there was an inverse linear relationship between mothers’ knowledge score and children’s HbA1c and there was a direct linear relationship between the mothers’ knowledge score and SES. Conclusions Finally, based on the results obtained in this study, it can be concluded that the awareness of mothers of T1DM children has a good impact on blood sugar control, whereas the SES of families has no direct effect on blood sugar control. Additionally, SES can indirectly impact on the consciousness of mothers and lead to the reduction of HbA1c.

  20. Educational level and family structure influence the dietary changes after the diagnosis of type 2 diabetes: evidence from the E3N study.

    Science.gov (United States)

    Mancini, Francesca Romana; Affret, Aurelie; Dow, Courtney; Balkau, Beverley; Bihan, Hélène; Clavel-Chapelon, Françoise; Boutron-Ruault, Marie-Christine; Bonnet, Fabrice; Fagherazzi, Guy

    2017-08-01

    Type 2 diabetes (T2D) has no cure but can be controlled by medication, diet, and lifestyle changes. It has been suggested that diabetes dietary self-management is more difficult for people with socioeconomic difficulties. The objective of our study was to test the hypothesis that socioeconomic factors impact the change of diet after T2D diagnosis. The 57 304 French women included in the present study answered food frequency questionnaires in 1993 and 2005 and questionnaires on socioeconomic factors, and were free from T2D in 1993. Between 1993 and 2005, 1249 women developed T2D. Linear regression models evaluated whether having T2D diagnosed had an impact on energy and nutrient intakes and whether socioeconomic factors were implicated. T2D was associated with a reduction of energy (β=-312.54 kJ/d, Peducation of T2D patients and whether or not they had a family (having a partner and/or children). The present study provides evidence that socioeconomic factors impact the way people with T2D change their dietary habits after diagnosis. Furthermore, the family plays a crucial role in dietary self-management, probably encouraging T2D patients to follow dietary recommendations. Copyright © 2017 Elsevier Inc. All rights reserved.

  1. Differential expression of CK20, β-catenin, and MUC2/5AC/6 in Lynch syndrome and familial colorectal cancer type X.

    Science.gov (United States)

    Haraldsson, Stefan; Klarskov, Louise; Nilbert, Mef; Bernstein, Inge; Bonde, Jesper; Holck, Susanne

    2017-01-01

    Hereditary non-polyposis colorectal cancer comprises Lynch syndrome and familial colorectal cancer type X (FCCTX). Differences in genetics, demographics and histopathology have been extensively studied. The purpose of this study is to characterize their immunoprofile of markers other than MMR proteins. We compared the expression patterns of cytokeratins (CK7 and CK20), mucins (MUC2/5 AC/6), CDX2 and β-catenin in Lynch syndrome and FCCTX. Differences were identified for CK20 and nuclear β-catenin, which were significantly more often expressed in FCCTX than in Lynch syndrome ( p  Lynch syndrome tumors compared with FCCTX tumors ( p  = 0.001, Lynch syndrome with a more sporadic-like profile in the former group and a more distinct profile with frequent MUC6 positivity in the latter group.

  2. A novel nine base deletion mutation in NADH-cytochrome b5 reductase gene in an Indian family with recessive congenital methemoglobinemia-type-II

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    Prashant Warang

    2015-12-01

    Full Text Available Recessive hereditary methemoglobinemia (RCM associated with severe neurological abnormalities is a very rare disorder caused by NADH- cytochrome b5 reductase (cb5r deficiency (Type II. We report a case of 11 month old male child who had severe mental retardation, microcephaly and gross global developmental delay with methemoglobin level of 61.1%. The diagnosis of NADH-CYB5R3 deficiency was made by the demonstration of significantly reduced NADH-CYB5R3 activity in the patient and intermediate enzyme activity in both the parents. Mutation analysis of the CYB5R gene revealed a novel nine nucleotide deletion in exon 6 leading to the elimination of 3 amino acid residues (Lys173, Ser174 and Val 175. To confirm that this mutation was not an artifact, we performed PCR-RFLP analysis using the restriction enzyme Drd I. As the normal sequence has a restriction recognition site for Drd I which was eliminated by the deletion, a single band of 603-bp was seen in the presence of the homozygous mutation. Molecular modeling analysis showed a significant effect of these 3 amino acids deletion on the protein structure and stability leading to a severe clinical presentation. A novel homozygous 9 nucleotide deletion (p.K173–p.V175del3 is shown to be segregated with the disease in this family. Knowing the profile of mutations would allow us to offer prenatal diagnosis in families with severe neurological disorders associated with RCM — Type II.

  3. Four adult hemoglobin types in one mulatto family Quatro tipos de hemoglobina em uma família adulta de mulatos

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    João Targino de Araújo

    1996-06-01

    Full Text Available The studied family showed the presence of four different types of hemoglobin. The family member who gave rise to this study (=propositus presented Hb C and the hybrid Hb CG-phila. The propositus has three children, all of which have Hb AC; none of the family members showed any clinical symptoms. The investigation of the hemoglobin arose from the finding of target red cells in a blood test done during the pre-operatory examination for lower limb varicose vein stripping. The hybrid Hb CG-phila is due to two gene pairs, each of which with individual expression, determining the synthesis and the particular type subunits. The hybrid Hb CG-phila is formed by the combination velocity of the subunits alpha2G-philabeta2; therefore the proportion of the hybrid Hb CG-phila is lower than Hb G-phila and Hb C. The identification and molecular characterization of Hb G-phila showed the position alpha268 Asn->Lys beta2 and Hb C showed alpha2beta26 Glu->Lys.A família em estudo mostrou a presença de quatro diferentes tipos de hemoglobinas. O membro da família que deu origem ao estudo (propositus foi identificado como Hb C e o híbrido com Hb CG-phila. O propositus tem três filhos todos portadores de Hb AC; nenhum membro da família apresentou sintomas clínicos. A pesquisa da hemoglobina resultou da existência de hemácias em alvo, no pré-operatório de varizes de membros inferiores. O híbrido Hb CG-phila é constituído por dois pares de genes, mas cada um com expressão inidividual, determinando a síntese e o tipo particular das subunidades. O híbrido Hb CG-phila é formado pela velocidade de combinação das subunidades alfa2G-philabeta2C assim sendo a proporção do híbrido Hb CG-phila é menor do que a Hb G-phila e Hb C. A identificação e caracterização molecular da Hb G-phila mostrou a posição alfa268 Asn->Lys beta2 a Hb C alfa2beta26 Glu->Lys.

  4. Late-onset Bartter syndrome type II.

    Science.gov (United States)

    Gollasch, Benjamin; Anistan, Yoland-Marie; Canaan-Kühl, Sima; Gollasch, Maik

    2017-10-01

    Mutations in the ROMK1 potassium channel gene ( KCNJ1 ) cause antenatal/neonatal Bartter syndrome type II (aBS II), a renal disorder that begins in utero , accounting for the polyhydramnios and premature delivery that is typical in affected infants, who develop massive renal salt wasting, hypokalaemic metabolic alkalosis, secondary hyperreninaemic hyperaldosteronism, hypercalciuria and nephrocalcinosis. This BS type is believed to represent a disorder of the infancy, but not in adulthood. We herein describe a female patient with a remarkably late-onset and mild clinical manifestation of BS II with compound heterozygous KCNJ1 missense mutations, consisting of a novel c.197T > A (p.I66N) and a previously reported c.875G > A (p.R292Q) KCNJ1 mutation. We implemented and evaluated the performance of two different bioinformatics-based approaches of targeted massively parallel sequencing [next generation sequencing (NGS)] in defining the molecular diagnosis. Our results demonstrate that aBS II may be suspected in patients with a late-onset phenotype. Our experimental approach of NGS-based mutation screening combined with Sanger sequencing proved to be a reliable molecular approach for defining the clinical diagnosis in our patient, and results in important differential diagnostic and therapeutic implications for patients with BS. Our results could have a significant impact on the diagnosis and methodological approaches of genetic testing in other patients with clinical unclassified phenotypes of nephrocalcinosis and congenital renal electrolyte abnormalities.

  5. C7L family of poxvirus host range genes inhibits antiviral activities induced by type I interferons and interferon regulatory factor 1.

    Science.gov (United States)

    Meng, Xiangzhi; Schoggins, John; Rose, Lloyd; Cao, Jingxin; Ploss, Alexander; Rice, Charles M; Xiang, Yan

    2012-04-01

    Vaccinia virus (VACV) K1L and C7L function equivalently in many mammalian cells to support VACV replication and antagonize antiviral activities induced by type I interferons (IFNs). While K1L is limited to orthopoxviruses, genes that are homologous to C7L are found in diverse mammalian poxviruses. In this study, we showed that the C7L homologues from sheeppox virus and swinepox virus could rescue the replication defect of a VACV mutant deleted of both K1L and C7L (vK1L(-)C7L(-)). Interestingly, the sheeppox virus C7L homologue could rescue the replication of vK1L(-)C7L(-) in human HeLa cells but not in murine 3T3 and LA-4 cells, in contrast to all other C7L homologues. Replacing amino acids 134 and 135 of the sheeppox virus C7L homologue, however, made it functional in the two murine cell lines, suggesting that these two residues are critical for antagonizing a putative host restriction factor which has some subtle sequence variation in human and murine cells. Furthermore, the C7L family of host range genes from diverse mammalian poxviruses were all capable of antagonizing type I IFN-induced antiviral activities against VACV. Screening of a library of more than 350 IFN-stimulated genes (ISGs) identified interferon-regulated factor 1 (IRF1) as an inhibitor of vK1L(-)C7L(-) but not wild-type VACV. Expression of either K1L or C7L, however, rendered vK1L(-)C7L(-) resistant to IRF1-induced antiviral activities. Altogether, our data show that K1L and C7L antagonize IRF1-induced antiviral activities and that the host modulation function of C7L is evolutionally conserved in all poxviruses that can readily replicate in tissue-cultured mammalian cells.

  6. The potential impact of family history of metabolic syndrome and risk of type 2 diabetes mellitus: In a highly endogamous population

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    Abdulbari Bener

    2014-01-01

    Full Text Available Aim: This study aims to determine the potential impact of positive family history of Metabolic Syndrome (MetS among two generations, on developing Type 2 Diabetes Mellitus (T2DM and the potential relation of consanguineous marriage among patients with MetS to the risk of developing T2DM among a sample of Qataris. Design: A cross-sectional study. Setting: Primary healthcare (PHC centers. Materials and Methods: The survey and measurement were conducted from April 2011 to December 2012 among Qatari nationals above 20 years of age. Of the 2,182 subjects, who were approached to participate in the study, 1,552 (71% gave their consent. Face-to-face interviews were conducted using a structured questionnaire followed by anthropometric measurements and laboratory tests. Metabolic syndrome was defined using the National Cholesterol Education Program-Third Adult Treatment Panel (ATP III as well as International Diabetes Federation (IDF. Results: Overall, the prevalence of MetS was 26.2% according to ATP III and 36.9% according to IDF (P < 0.0001. The mean age of MetS patients with T2DM was significantly higher than those without T2DM (Mean 48 ± 9.9 vs. 42.5 ± 9.2; P < 0.001. The proportion of females was higher among MetS patients with T2DM as compared to those without T2DM (61% vs. 51%; P = 0.053. In addition, there were significant differences between MetS patients with and without DM in terms of co-morbidities of hypertension, coronary heart disease, and high cholesterol. The proportion of MetS patients with positive family history for MetS was significantly higher in MetS patients with T2DM as compared to those without T2DM (46.7% vs. 33.8%; P = 0.009. The proportion of positive family history of MetS among fathers (35% vs. 21.9%; P = 0.005, mothers (30.5% vs. 18.8%; P = 0.008, maternal aunt (18.3% vs. 11.2%; P = 0.055, and maternal grand father (19.5% vs. 10%; P = 0.010 were significantly higher in MetS patients with T2DM as compared to the

  7. Loosely coupled class families

    DEFF Research Database (Denmark)

    Ernst, Erik

    2001-01-01

    are expressed using virtual classes seem to be very tightly coupled internally. While clients have achieved the freedom to dynamically use one or the other family, it seems that any given family contains a xed set of classes and we will need to create an entire family of its own just in order to replace one...... of the members with another class. This paper shows how to express class families in such a manner that the classes in these families can be used in many dierent combinations, still enabling family polymorphism and ensuring type safety....

  8. Psychosocial family factors and glycemic control among children aged 1-15 years with type 1 diabetes: a population-based survey

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    Haugstvedt Anne

    2011-12-01

    Full Text Available Abstract Background Being the parents of children with diabetes is demanding. Jay Belsky's determinants of parenting model emphasizes both the personal psychological resources, the characteristics of the child and contextual sources such as parents' work, marital relations and social network support as important determinants for parenting. To better understand the factors influencing parental functioning among parents of children with type 1 diabetes, we aimed to investigate associations between the children's glycated hemoglobin (HbA1c and 1 variables related to the parents' psychological and contextual resources, and 2 frequency of blood glucose measurement as a marker for diabetes-related parenting behavior. Methods Mothers (n = 103 and fathers (n = 97 of 115 children younger than 16 years old participated in a population-based survey. The questionnaire comprised the Life Orientation Test, the Oslo 3-item Social Support Scale, a single question regarding perceived social limitation because of the child's diabetes, the Relationship Satisfaction Scale and demographic and clinical variables. We investigated associations by using regression analysis. Related to the second aim hypoglycemic events, child age, diabetes duration, insulin regimen and comorbid diseases were included as covariates. Results The mean HbA1c was 8.1%, and 29% had HbA1c ≤ 7.5%. In multiple regression analysis, lower HbA1c was associated with higher education and stronger perceptions of social limitation among the mothers. A higher frequency of blood glucose measurement was significantly associated with lower HbA1c in bivariate analysis. Higher child age was significantly associated with higher HbA1c both in bivariate and multivariate analysis. A scatterplot indicated this association to be linear. Conclusions Most families do not reach recommended treatment goals for their child with type 1 diabetes. Concerning contextual sources of stress and support, the families who

  9. Functional evaluation of the role of C-type lectin domain family 16A at the chromosome 16p13 locus.

    Science.gov (United States)

    Zouk, H; D'Hennezel, E; Du, X; Ounissi-Benkalha, H; Piccirillo, C A; Polychronakos, C

    2014-03-01

    The type 1 diabetes-associated 16p13 locus contains the CLEC16A gene. Its preferential immune cell expression suggests involvement in autoimmunity. Given its elevated expression in dendritic and B cells - known professional antigen-presenting cells (APCs) - we hypothesize that C-type lectin domain family 16 member A (CLEC16A) may be involved in T cell co-stimulation and consequent activation and proliferation. We also sought to identify CLEC16A's subcellular localization. The effect of the CLEC16A knock-down (KD) on B cell co-stimulation and activation of T cells was tested in human lymphoblastoid cell lines (LCLs) by co-culture with CD4(+) T cells. T cell activation and proliferation were determined by flow-cytometric analysis of CD69 and CD25 expression and carboxyfluorescein succinimidyl ester (CFSE) dilution, respectively. CLEC16A subcellular localization in K562 cells was examined by immunofluorescence. We show that the CLEC16A KD did not affect the tested indices of lymphoblastoid cell line (LCL) APC capacity. Additionally, the percentage of activated T cells following LCL co-culture was not affected significantly by the CLEC16A KD. T cells co-cultured with KD or control LCLs also exhibited similar cell division profiles. CLEC16A co-localized with an endoplasmic reticulum (ER) marker, suggesting that it may be an ER protein. In conclusion, CLEC16A may not be involved in T cell co-stimulation. Additional studies on CLEC16A, accounting for its ER localization, are needed to uncover its biological role. © 2013 British Society for Immunology.

  10. Diagnóstico de polineuropatía amiloidótica familiar tipo I en la Argentina Diagnosis of familial amyloid polyneuropathy type I in Argentina

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    Gladys Pérez

    2008-08-01

    transthyretin (TTR the principal component of amyloid fibrils. TTR is a normal plasma protein (previously called prealbumin that functions as a transport protein binding tiroxine and retinol. Among many mutations that have been found in the TTR gene, the variant with a single amino acid substitution of methionine for valine at position 30 (TTR Val30Met is the responsible of the Portuguese-type Familial Amyloidotic Polyneuropathy (FAP Type I. Interest in this pathology has arisen in Argentina because of the finding of an endemic area where a group of Portuguese immigrant families is localized. Since liver transplantation is a widely accepted treatment because it results in the disappearance of variant transthyretin from plasma, an early detection of the altered gene is essential. Thus, the objective of the present work was to optimize a methodology to detect the Val30Met mutation introducing modifications into techniques that were previously developed. The simple method here described is useful to confirm the diagnosis of the potential disease and, therefore, make it possible for patients to gain access to early liver transplantation.

  11. SECRET domain of variola virus CrmB protein can be a member of poxviral type II chemokine-binding proteins family

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    Shchelkunov Sergei N

    2010-10-01

    Full Text Available Abstract Background Variola virus (VARV the causative agent of smallpox, eradicated in 1980, have wide spectrum of immunomodulatory proteins to evade host immunity. Recently additional biological activity was discovered for VARV CrmB protein, known to bind and inhibit tumour necrosis factor (TNF through its N-terminal domain homologous to cellular TNF receptors. Besides binding TNF, this protein was also shown to bind with high affinity several chemokines which recruit B- and T-lymphocytes and dendritic cells to sites of viral entry and replication. Ability to bind chemokines was shown to be associated with unique C-terminal domain of CrmB protein. This domain named SECRET (Smallpox virus-Encoded Chemokine Receptor is unrelated to the host proteins and lacks significant homology with other known viral chemokine-binding proteins or any other known protein. Findings De novo modelling of VARV-CrmB SECRET domain spatial structure revealed its apparent structural homology with cowpox virus CC-chemokine binding protein (vCCI and vaccinia virus A41 protein, despite low sequence identity between these three proteins. Potential ligand-binding surface of modelled VARV-CrmB SECRET domain was also predicted to bear prominent electronegative charge which is characteristic to known orthopoxviral chemokine-binding proteins. Conclusions Our results suggest that SECRET should be included into the family of poxviral type II chemokine-binding proteins and that it might have been evolved from the vCCI-like predecessor protein.

  12. SECRET domain of variola virus CrmB protein can be a member of poxviral type II chemokine-binding proteins family.

    Science.gov (United States)

    Antonets, Denis V; Nepomnyashchikh, Tatyana S; Shchelkunov, Sergei N

    2010-10-27

    Variola virus (VARV) the causative agent of smallpox, eradicated in 1980, have wide spectrum of immunomodulatory proteins to evade host immunity. Recently additional biological activity was discovered for VARV CrmB protein, known to bind and inhibit tumour necrosis factor (TNF) through its N-terminal domain homologous to cellular TNF receptors. Besides binding TNF, this protein was also shown to bind with high affinity several chemokines which recruit B- and T-lymphocytes and dendritic cells to sites of viral entry and replication. Ability to bind chemokines was shown to be associated with unique C-terminal domain of CrmB protein. This domain named SECRET (Smallpox virus-Encoded Chemokine Receptor) is unrelated to the host proteins and lacks significant homology with other known viral chemokine-binding proteins or any other known protein. De novo modelling of VARV-CrmB SECRET domain spatial structure revealed its apparent structural homology with cowpox virus CC-chemokine binding protein (vCCI) and vaccinia virus A41 protein, despite low sequence identity between these three proteins. Potential ligand-binding surface of modelled VARV-CrmB SECRET domain was also predicted to bear prominent electronegative charge which is characteristic to known orthopoxviral chemokine-binding proteins. Our results suggest that SECRET should be included into the family of poxviral type II chemokine-binding proteins and that it might have been evolved from the vCCI-like predecessor protein.

  13. The belonging of gpMuc, a glycoprotein from Mucuna pruriens seeds, to the Kunitz-type trypsin inhibitor family explains its direct anti-snake venom activity.

    Science.gov (United States)

    Scirè, Andrea; Tanfani, Fabio; Bertoli, Enrico; Furlani, Emiliano; Nadozie, Hope-Onyekwere N; Cerutti, Helena; Cortelazzo, Alessio; Bini, Luca; Guerranti, Roberto

    2011-07-15

    In Nigeria, Mucuna pruriens seeds are locally prescribed as an oral prophylactic for snake bite and it is claimed that when two seeds are swallowed they protect the individual for a year against snake bites. In order to understand the Mucuna pruriens antisnake properties, the proteins from the acqueous extract of seeds were purified by three chromatographic steps: ConA affinity chromatography, tandem anionic-cationic exchange and gel filtration, obtaining a fraction conventionally called gpMucB. This purified fraction was analysed by SDS-PAGE obtaining 3 bands with apparent masses ranging from 20 to 24 kDa, and by MALDI-TOF which showed two main peaks of 21 and 23 kDa and another small peak of 19 kDa. On the other hand, gel filtration analysis of the native protein indicated a molecular mass of about 70 kDa suggesting that in its native form, gpMucB is most likely an oligomeric multiform protein. Infrared spectroscopy of gpMucB indicated that the protein is particularly thermostable both at neutral and acidic pHs and that it is an all beta protein. All data suggest that gpMucB belongs to the Kunitz-type trypsin inhibitor family explaining the direct anti-snake venom activity of Mucuna pruriens seeds. Copyright © 2011 Elsevier GmbH. All rights reserved.

  14. A Family of Salmonella Type III Secretion Effector Proteins Selectively Targets the NF-κB Signaling Pathway to Preserve Host Homeostasis.

    Science.gov (United States)

    Sun, Hui; Kamanova, Jana; Lara-Tejero, Maria; Galán, Jorge E

    2016-03-01

    Microbial infections usually lead to host innate immune responses and inflammation. These responses most often limit pathogen replication although they can also result in host-tissue damage. The enteropathogenic bacteria Salmonella Typhimurium utilizes a type III secretion system to induce intestinal inflammation by delivering specific effector proteins that stimulate signal transduction pathways resulting in the production of pro-inflammatory cytokines. We show here that a family of related Salmonella Typhimurium effector proteins PipA, GogA and GtgA redundantly target components of the NF-κB signaling pathway to inhibit transcriptional responses leading to inflammation. We show that these effector proteins are proteases that cleave both the RelA (p65) and RelB transcription factors but do not target p100 (NF-κB2) or p105 (NF-κB1). A Salmonella Typhimurium strain lacking these effectors showed increased ability to stimulate NF-κB and increased virulence in an animal model of infection. These results indicate that bacterial pathogens can evolve determinants to preserve host homeostasis and that those determinants can reduce the pathogen's virulence.

  15. Structural and functional analysis of perforin mutations in association with clinical data of familial hemophagocytic lymphohistiocytosis type 2 (FHL2) patients

    Science.gov (United States)

    An, Omer; Gursoy, Attila; Gurgey, Aytemiz; Keskin, Ozlem

    2013-01-01

    Perforin plays a key role in the immune system via pore formation at the target cell membrane in the elimination of virus-infected and transformed cells. A vast number of observed mutations in perforin impair this mechanism resulting in a rare but fatal disease, familial hemophagocytic lymphohistiocytosis type 2 (FHL2). Here we report a comprehensive in silico structural analysis of a collection of 76 missense perforin mutations based on a proposed pore model. In our model, perforin monomers oligomerize having cyclic symmetry in consistent with previously found experimental constraints yet having flexibility in the size of the pore and the number of monomers involved. Clusters of the mutations on the model map to three distinct functional regions of the perforin. Calculated stability (free energy) changes show that the mutations mainly destabilize the protein structure, interestingly however, A91V polymorphism, leads to a more stable one. Structural characteristics of mutations help explain the severe functional consequences on perforin deficient patients. Our study provides a structural approach to the mutation effects on the perforin oligomerization and impaired cytotoxic function in FHL2 patients. PMID:23592409

  16. Psychological trauma symptoms and Type 2 diabetes prevalence, glucose control, and treatment modality among American Indians in the Strong Heart Family Study.

    Science.gov (United States)

    Jacob, Michelle M; Gonzales, Kelly L; Calhoun, Darren; Beals, Janette; Muller, Clemma Jacobsen; Goldberg, Jack; Nelson, Lonnie; Welty, Thomas K; Howard, Barbara V

    2013-01-01

    The aims of this paper are to examine the relationship between psychological trauma symptoms and Type 2 diabetes prevalence, glucose control, and treatment modality among 3776 American Indians in Phase V of the Strong Heart Family Study. This cross-sectional analysis measured psychological trauma symptoms using the National Anxiety Disorder Screening Day instrument, diabetes by American Diabetes Association criteria, and treatment modality by four categories: no medication, oral medication only, insulin only, or both oral medication and insulin. We used binary logistic regression to evaluate the association between psychological trauma symptoms and diabetes prevalence. We used ordinary least squares regression to evaluate the association between psychological trauma symptoms and glucose control. We used binary logistic regression to model the association of psychological trauma symptoms with treatment modality. Neither diabetes prevalence (22%-31%; p=0.19) nor control (8.0-8.6; p=0.25) varied significantly by psychological trauma symptoms categories. However, diabetes treatment modality was associated with psychological trauma symptoms categories, as people with greater burden used either no medication, or both oral and insulin medications (odds ratio=3.1, ppsychological trauma symptoms suggests future research investigate patient and provider treatment decision making. © 2013.

  17. Effect of angiotensin II type I receptor A1166C polymorphism on benazepril action in hypertensive patients: a family-based association test study.

    Science.gov (United States)

    Zhang, Ning; Cui, Huadong; Yang, Lili

    2012-10-01

    Few studies have examined the effect of the angiotensin II type I receptor (AT1R) A1166C polymorphism on the antihypertensive effect of the angiotensin-converting-enzyme inhibitor benazepril in patients with hypertension, and no such studies have performed analysis using the Family-Based Association Test (FBAT), The aim of our study was to examine the association between AT1R A1166C gene polymorphism and the antihypertensive effect of benazepril using the FBAT. A total of 864 patients (aged, 26-62 years) with essential hypertension were identified in an epidemiological survey and enrolled in this study. Blood pressure (BP) was measured before and after 16 days of treatment with benazepril (10 mg/day). The association between the A1166C gene polymorphism and the antihypertensive effect of benazepril was assessed by FBAT. The frequencies of alleles A and C were 95.1% and 4.9%, respectively. FBAT analysis revealed that the C allele was significantly associated with high baseline diastolic BP (Z = 2.041, p = 0.041), decreased systolic BP after treatment (Z = 2.549, p = 0.011), and decreased diastolic BP after treatment (Z = 2.320, p = 0.020). Our results, determined using the FBAT, are the first evidence that the AT1R A1166C polymorphism may increase the antihypertensive effect of benazepril in patients with hypertension.

  18. Increased expression of endosomal members of toll-like receptor family abrogates wound healing in patients with type 2 diabetes mellitus.

    Science.gov (United States)

    Singh, Kanhaiya; Agrawal, Neeraj K; Gupta, Sanjeev K; Mohan, Gyanendra; Chaturvedi, Sunanda; Singh, Kiran

    2016-10-01

    The inflammatory phase of wound healing cascade is an important determinant of the fate of the wound. Acute inflammation is necessary to initiate proper wound healing, while chronic inflammation abrogates wound healing. Different endosomal members of toll-like receptor (TLR) family initiate inflammatory signalling via a range of different inflammatory mediators such as interferons, internal tissue damaged-associated molecular patterns (DAMPs) and hyperactive effector T cells. Sustained signalling of TLR9 and TLR7 contributes to chronic inflammation by activating the plasmacytoid dendritic cells. Diabetic wounds are also characterised by sustained inflammatory phase. The objective of this study was to analyse the differential expression of endosomal TLRs in human diabetic wounds compared with control wounds. We analysed the differential expression of TLR7 and TLR9 both at transcriptional and translational levels in wounds of 84 patients with type 2 diabetes mellitus (T2DM) and 6 control subjects without diabetes using quantitative real-time polymerase chain reaction (RT-PCR), western blot and immunohistochemistry. TLR7 and TLR9 were significantly up-regulated in wounds of the patients with T2DM compared with the controls and were dependent on the infection status of the diabetic wounds, and wounds with microbial infection exhibited lower expression levels of endosomal TLRs. Altered endosomal TLR expression in T2DM subjects might be associated with wound healing impairment. © 2015 Medicalhelplines.com Inc and John Wiley & Sons Ltd.

  19. Insights into early extracellular matrix evolution: spongin short chain collagen-related proteins are homologous to basement membrane type IV collagens and form a novel family widely distributed in invertebrates.

    Science.gov (United States)

    Aouacheria, Abdel; Geourjon, Christophe; Aghajari, Nushin; Navratil, Vincent; Deléage, Gilbert; Lethias, Claire; Exposito, Jean-Yves

    2006-12-01

    Collagens are thought to represent one of the most important molecular innovations in the metazoan line. Basement membrane type IV collagen is present in all Eumetazoa and was found in Homoscleromorpha, a sponge group with a well-organized epithelium, which may represent the first stage of tissue differentiation during animal evolution. In contrast, spongin seems to be a demosponge-specific collagenous protein, which can totally substitute an inorganic skeleton, such as in the well-known bath sponge. In the freshwater sponge Ephydatia mülleri, we previously characterized a family of short-chain collagens that are likely to be main components of spongins. Using a combination of sequence- and structure-based methods, we present evidence of remote homology between the carboxyl-terminal noncollagenous NC1 domain of spongin short-chain collagens and type IV collagen. Unexpectedly, spongin short-chain collagen-related proteins were retrieved in nonsponge animals, suggesting that a family related to spongin constitutes an evolutionary sister to the type IV collagen family. Formation of the ancestral NC1 domain and divergence of the spongin short-chain collagen-related and type IV collagen families may have occurred before the parazoan-eumetazoan split, the earliest divergence among extant animal phyla. Molecular phylogenetics based on NC1 domain sequences suggest distinct evolutionary histories for spongin short-chain collagen-related and type IV collagen families that include spongin short-chain collagen-related gene loss in the ancestors of Ecdyzosoa and of vertebrates. The fact that a majority of invertebrates encodes spongin short-chain collagen-related proteins raises the important question to the possible function of its members. Considering the importance of collagens for animal structure and substratum attachment, both families may have played crucial roles in animal diversification.

  20. Dissolved families

    DEFF Research Database (Denmark)

    Christoffersen, Mogens

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

  1. Synthesis, Characterization, In Vitro Evaluation, and Preclinical Profiling of beta-Cyclodextrin Polyrotaxane Families for Use As Potential Niemann-Pick Type C Therapeutics

    Science.gov (United States)

    Collins, Christopher J.

    Niemann-Pick Disease Type C (NPC) is a rare, autosomal recessive genetic disorder featuring a loss of proteins responsible for unesterified cholesterol (UC) trafficking through the late endosomes/lysosomes (LE/LY) of every cell of the body. Disruption of this pathway leads to abnormal accumulation and storage of UC and other lipids. A broad range of visceral and neurological symptoms result from this accumulation exhibiting a variable age of onset and a disease progression that is ultimately fatal. The disease has an incidence of approximately 1 in 120,000 live births and has no known effective treatment. beta-Cyclodextrin (beta-CD) are natural small molecules macrocycles composed of glucose units with a hydrophobic inner cavity and hydrophilic outer rims. beta-CD derivatives have recently been shown to be effective therapeutics for NPC in cellular and animal models. In the mouse model of the disease, beta-CD therapy increases overall lifetime by as much as 50% and slows the progression of neurodegeneration. The progress has led to the initiation of a National Institutes of Health phase I clinical trial. A main drawback of beta-CD administration is the poor pharmacokinetic profile characterized by rapid renal clearance of the drug through the urine. Libraries of beta-CD derivative carrying high molecular weight polyrotaxane (PR) systems have been designed to prevent glomerular filtration of the injected beta-CD dose. An initial family of unmodified beta-CD PRs was synthesized, characterized, and their therapeutic efficacy was tested in NPC fibroblasts. This was followed by screening of PRs consisting of mixed beta-CD derivative threading featuring charged sulfobutylether beta-CD. Finally, we sought to define PR structure-property effects on in vivo pharmacokinetics, biodistribution, toxicity, immunogenicity, and protein hard corona composition. This was accomplished using a family of gadolinium carrying PRs composed of triblock Pluronic co-polymers of varying

  2. Structures of a bi-functional Kunitz-type STI family inhibitor of serine and aspartic proteases: Could the aspartic protease inhibition have evolved from a canonical serine protease-binding loop?

    Science.gov (United States)

    Guerra, Yasel; Valiente, Pedro A; Pons, Tirso; Berry, Colin; Rudiño-Piñera, Enrique

    2016-08-01

    Bi-functional inhibitors from the Kunitz-type soybean trypsin inhibitor (STI) family are glycosylated proteins able to inhibit serine and aspartic proteases. Here we report six crystal structures of the wild-type and a non-glycosylated mutant of the bifunctional inhibitor E3Ad obtained at different pH values and space groups. The crystal structures show that E3Ad adopts the typical β-trefoil fold of the STI family exhibiting some conformational changes due to pH variations and crystal packing. Despite the high sequence identity with a recently reported potato cathepsin D inhibitor (PDI), three-dimensional structures obtained in this work show a significant conformational change in the protease-binding loop proposed for aspartic protease inhibition. The E3Ad binding loop for serine protease inhibition is also proposed, based on structural similarity with a novel non-canonical conformation described for the double-headed inhibitor API-A from the Kunitz-type STI family. In addition, structural and sequence analyses suggest that bifunctional inhibitors of serine and aspartic proteases from the Kunitz-type STI family are more similar to double-headed inhibitor API-A than other inhibitors with a canonical protease-binding loop. Copyright © 2016. Published by Elsevier Inc.

  3. The Prediction of Type 1 Diabetes in discordant and concordant families: 16 years of follow-up. Focus on the future

    Directory of Open Access Journals (Sweden)

    Elena Vitalyevna Titovich

    2014-07-01

    Full Text Available For 40 years, research continues to improve the forecasting methods and the development of effective and safe methods of preventing type 1 diabetes mellitus (T1DM.АimPrediction of the early preclinical stage of T1DM.Materials and methodsWe studied the predisposing and protective haplotypes (HLA-DRB1, gene DQ together with immunological markers (ICA, GADA, IAA in 224 discordant/concordant families.ResultsAt the Endocrinology Research Centre, population and family risks of the development of T1DM in Russia were calculated on the basis of population genetic approaches. The analysis of the prevalence of HLA genotypes among T1DM patients revealed that the high-risk haplotypes in the structure of genotype(s DQ2 and/or DQ8 in combination with the others were 78%: of these genotypes DQ2/DQ8, DQ2/DQ2, and DQ8/DQ8 accounted for 35%; DQ2/X* and DQ8/X* accounted for 43%; and the low-risk genotype Х*/Х* accounted for 22%. The genotype Х/Х consisted of weaker predisposing haplotypes that were specific to the Russian population in combination with neutral haplotypes or those consisting of neutral haplotypes only. The analysis of patients with T1DM genotypes revealed that high-risk genotypes (DQ2/DQ8 were more common in ill children up to the age of 5 (33% of cases than in T1DM children over 10 years (23% (p=0.05. Conversely, the low-risk genotypes were significantly less likely to be found in children with manifestations of diabetes up to 5 years than in sick people over 10 years [5% and 13%, respectively (p <0.05]. This is consistent with hereditary load of diabetes manifestations in young children and with the earlier data. The 16-year prospective surveillance showed that the manifestation of the disease occurred in 8.4% of siblings. The analysis of the frequency of autoantibodies revealed that autoantibodies were identified the most reliably prior to the manifestation of the disease compared with T1DM patients in the initial period and healthy siblings

  4. Resilience of refugee families

    Directory of Open Access Journals (Sweden)

    Batić Dragana

    2012-01-01

    Full Text Available This study attempted to find a correlation between the trauma of family members of war and exile, and the characteristics of family functioning and lasted from 1992-1995. The term “family resilience” refers to the processes of adaptation and coping in the family as a functional unit. This paper presents a study of refugee families from Bosnia, who lived in refugee camps in Macedonia during the war of 1992- 1995. Data were obtained by interviews, observations, and a number of psychological instruments especially for children and parents, which measured the effects of psychological stress and family relationships. Based on the results obtained by quantitative and qualitative analysis, and application of theoretical models of systemic theory and family therapy, existence for four types of refugee families has been found and described, depending on the structure and the level of functionality.

  5. Integration of heterologous DNA into the genome of Paracoccus denitrificans is mediated by a family of IS1248-related elements and a second type of integrative recombination event

    NARCIS (Netherlands)

    Van Spanning, R J; Reijnders, W N; Stouthamer, A.H.

    All members of the IS1248 family residing in the genome of Paracoccus denitrificans have been isolated by using a set of insertion sequence entrapment vectors. The family consists of five closely related members that integrate the entrapment vectors at distinct sites. One of these, IS1248b, was

  6. Studies in the family Thelypteridaceae II. A comparative study of the type-species of Thelypteris Schmidel, Cyclosorus link, and Ampelopteris Kunze

    NARCIS (Netherlands)

    Holttum, R.E.; Sen, U.; Mittra, D.

    1970-01-01

    In the first paper of this series (Holttum, 1969) I gave a brief summary of taxonomic treatment of the family Thelypteridaceae in the present century, and stated that in my judgement no satisfactory subdivision of the family, as represented in the tropics of the Old World, had yet been achieved, the

  7. THE MYC FAMILY OF ONCOGENES AND THEIR PRESENCE AND IMPORTANCE IN SMALL-CELL LUNG-CARCINOMA AND OTHER TUMOR TYPES

    NARCIS (Netherlands)

    DEVRIES, EGE; MULDER, NH

    1993-01-01

    The myc family of cellular oncogenes, c - myr, N - myc, encodes three highly related, cell cycle specific, nuclear phosphoproteins. All are able to transform primary rat embryo fibroblasts when cotransfected with the c - ras oncogene. Myc family genes am differentially expressed with respect to

  8. Dipeptidyl peptidase-4 levels are increased and partially related to body fat distribution in patients with familial partial lipodystrophy type 2.

    Science.gov (United States)

    Valerio, Cynthia Melissa; de Almeida, Juliana Severo; Moreira, Rodrigo Oliveira; Aguiar, Luiza Barreto S; Siciliano, Priscila O; Carvalho, Denise P; Godoy-Matos, Amelio F

    2017-01-01

    Dipeptidyl peptidase-4 (DDP4) is an enzyme responsible for glucagon-like peptide-1 inactivation and plays an important role in glucose metabolism. The aim of this study was to evaluate DPP4 levels in patients with familial partial lipodystrophy type 2 (FPLD2) and correlate it with body fat distribution. Fourteen patients with FPLD2 were selected to participate in this study and matched to a healthy control group (n = 8). All participants had anthropometrical data registered. Body adiposity index (BAI) was used to evaluate fat distribution in this population. Body fat content and distribution were analyzed by dual X-ray absorptiometry (DXA). Biochemical exams, including DPP4 levels, were performed in all individuals. Despite the same body mass index, lipodystrophic patients had a significant lower hip (median 92.0 vs 94.5; p = 0.028), HDL cholesterol (42.6 ± 10.4 vs 66.1 ± 16.0; p correlation was found between DPP4 levels and percentage of total body fat (r = 0.86; p = 0.0025) and android fat (r = 0.78; p = 0.014). Patients with FPLD2 exhibit an increase in DDP4 levels in comparison to a healthy control group. The increase in the levels of this enzyme does not seem to be related to the diagnosis of diabetes and might be associated with an increase in central fat (estimated using BAI and measured using DXA). These results might be used to reinforce the concept that DDP4 is an adipokine related to central fat distribution.

  9. Pregnancy induces molecular alterations reflecting impaired insulin control over glucose oxidative pathways that only in women with a family history of Type 2 diabetes last beyond pregnancy.

    Science.gov (United States)

    Piccinini, M; Mostert, M; Seardo, M A; Bussolino, S; Alberto, G; Lupino, E; Ramondetti, C; Buccinnà, B; Rinaudo, M T

    2009-01-01

    In circulating lymphomonocytes (CLM) of patients with Type 2 diabetes (DM2) pyruvate dehydrogenase (PDH), the major determinant of glucose oxidative breakdown, is affected by a cohort of alterations reflecting impaired insulin stimulated glucose utilization. The cohort is also expressed, although incompletely, in 40% of healthy young subjects with a DM2-family history (FH). Pregnancy restrains glucose utilization in maternal peripheral tissues to satisfy fetal requirements. Here we explore whether pregnant women develop the PDH alterations and, if so, whether there are differences between women with and without FH (FH+, FH-). Ten FH+ and 10 FH- were evaluated during pregnancy (12-14, 24-26, and 37-39 weeks) and 1 yr after (follow-up) for fasting plasma glucose and insulin as well as body mass index (BMI), and for the PDH alterations. Twenty FH- and 20 FH+ non-pregnant women served as controls. All FH+ and FH- controls exhibited normal clinical parameters and 8 FH+ had an incomplete cohort of PDH alterations. In FH- and FH+ pregnant women at 12-14 weeks clinical parameters were normal; from 24-26 weeks, with unvaried glucose, insulin and BMI rose more in FH- and only in the latter recovered the 12-14 weeks values at follow-up. In all FH-, the cohort of PDH alterations was incomplete at 24-26 weeks, complete at 37-39 weeks, and absent at follow-up but complete from 12-14 weeks including follow-up in all FH+. In FH-, the cohort is an acquired trait restricted to pregnancy signaling transiently reduced insulin-stimulated glucose utilization; in FH+, instead, it unveils the existence of an inherited DM2-related background these women all have, that is awakened by pregnancy and as such lastingly impairs insulin-stimulated glucose utilization.

  10. Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.

    Science.gov (United States)

    Willems, M; Geneviève, D; Borck, G; Baumann, C; Baujat, G; Bieth, E; Edery, P; Farra, C; Gerard, M; Héron, D; Leheup, B; Le Merrer, M; Lyonnet, S; Martin-Coignard, D; Mathieu, M; Thauvin-Robinet, C; Verloes, A; Colleaux, L; Munnich, A; Cormier-Daire, V

    2010-12-01

    Microcephalic osteodysplastic primordial dwarfism type II (MOPD II, MIM 210720) and Seckel syndrome (SCKL, MIM 210600) belong to the primordial dwarfism group characterised by intrauterine growth retardation, severe proportionate short stature, and pronounced microcephaly. MOPD II is distinct from SCKL by more severe growth retardation, radiological abnormalities, and absent or mild mental retardation. Seckel syndrome is associated with defective ATR dependent DNA damage signalling. In 2008, loss-of-function mutations in the pericentrin gene (PCNT) have been identified in 28 patients, including 3 SCKL and 25 MOPDII cases. This gene encodes a centrosomal protein which plays a key role in the organisation of mitotic spindles. The aim of this study was to analyse PCNT in a large series of SCKL-MOPD II cases to further define the clinical spectrum associated with PCNT mutations. Among 18 consanguineous families (13 SCKL and 5 MOPDII) and 6 isolated cases (3 SCKL and 3 MOPD II), 13 distinct mutations were identified in 5/16 SCKL and 8/8 MOPDII including five stop mutations, five frameshift mutations, two splice site mutations, and one apparent missense mutation affecting the last base of exon 19. Moreover, we demonstrated that this latter mutation leads to an abnormal splicing with a predicted premature termination of translation. The clinical analysis of the 5 SCKL cases with PCNT mutations showed that they all presented minor skeletal changes and clinical features compatible with MOPDII diagnosis. It is therefore concluded that, despite variable severity, MOPDII is a genetically homogeneous condition due to loss-of-function of pericentrin.

  11. Brief Computer-Delivered Intervention to Increase Parental Monitoring in Families of African American Adolescents with Type 1 Diabetes: A Randomized Controlled Trial.

    Science.gov (United States)

    Ellis, Deborah A; Idalski Carcone, April; Ondersma, Steven J; Naar-King, Sylvie; Dekelbab, Bassem; Moltz, Kathleen

    2017-06-01

    African American adolescents with type 1 diabetes (T1D) are at elevated risk for poor diabetes management and metabolic control. Parental supervision and monitoring of adolescent diabetes management have been shown to promote better diabetes management among adolescents, but parents typically decrease their oversight during the transition to independent diabetes care. The purpose of the study was to conduct a randomized clinical trial to test the feasibility and efficacy of a three-session, computer-delivered motivational intervention (The 3Ms) to promote increased parental monitoring among primary caregivers of young African American adolescents with T1D. The intervention was brief and optimized for delivery during routine diabetes clinic visits. Sixty-seven adolescents with T1D aged 11-14 and their primary caregiver were randomly assigned to one of three arms: adolescent and parent motivational intervention (Arm 1), adolescent control and parent motivational intervention (Arm 2), or adolescent and parent control (Arm 3). Intervention effects were assessed 1 month after intervention completion. Parents in Arm 1 and Arm 2 had significant increases in knowledge of the importance of monitoring adolescents' diabetes care. Parents in Arm 2 also had trend to significant increases in direct observation and monitoring of adolescent diabetes care, and adolescents in Arm 2 had significant improvements in glycemic control. Findings from the present study provide preliminary support for the efficacy of a brief, computer-delivered parenting intervention for improving family management practices and adolescent health outcomes among African American adolescents with T1D and their caregivers.

  12. Biochemical Characterization of the Lactobacillus reuteri Glycoside Hydrolase Family 70 GTFB Type of 4,6-α-Glucanotransferase Enzymes That Synthesize Soluble Dietary Starch Fibers.

    Science.gov (United States)

    Bai, Yuxiang; van der Kaaij, Rachel Maria; Leemhuis, Hans; Pijning, Tjaard; van Leeuwen, Sander Sebastiaan; Jin, Zhengyu; Dijkhuizen, Lubbert

    2015-10-01

    4,6-α-Glucanotransferase (4,6-α-GTase) enzymes, such as GTFB and GTFW of Lactobacillus reuteri strains, constitute a new reaction specificity in glycoside hydrolase family 70 (GH70) and are novel enzymes that convert starch or starch hydrolysates into isomalto/maltopolysaccharides (IMMPs). These IMMPs still have linear chains with some α1→4 linkages but mostly (relatively long) linear chains with α1→6 linkages and are soluble dietary starch fibers. 4,6-α-GTase enzymes and their products have significant potential for industrial applications. Here we report that an N-terminal truncation (amino acids 1 to 733) strongly enhances the soluble expression level of fully active GTFB-ΔN (approximately 75-fold compared to full-length wild type GTFB) in Escherichia coli. In addition, quantitative assays based on amylose V as the substrate are described; these assays allow accurate determination of both hydrolysis (minor) activity (glucose release, reducing power) and total activity (iodine staining) and calculation of the transferase (major) activity of these 4,6-α-GTase enzymes. The data show that GTFB-ΔN is clearly less hydrolytic than GTFW, which is also supported by nuclear magnetic resonance (NMR) analysis of their final products. From these assays, the biochemical properties of GTFB-ΔN were characterized in detail, including determination of kinetic parameters and acceptor substrate specificity. The GTFB enzyme displayed high conversion yields at relatively high substrate concentrations, a promising feature for industrial application. Copyright © 2015, American Society for Microbiology. All Rights Reserved.

  13. Use of a web portal by adult patients with pre-diabetes and type 2 diabetes mellitus seen in a family medicine outpatient clinic.

    Science.gov (United States)

    Coughlin, Steven S; Heboyan, Vahé; Young, Lufei; De Leo, Gianluca; Wilkins, Thad

    2018-05-01

    There has been increasing interest in the use of web portals by patients with type 2 diabetes mellitus (T2DM). Studies of web portal use by patients with pre-diabetes have not been reported. To plan studies of web portal use by adult clinic patients seen for pre-diabetes and T2DM at an academic medical center, we examined characteristics of those who had or had not registered for a web portal. Electronic records were reviewed to identify web portal registration by patients treated for pre-diabetes or T2DM by age, sex, race and ethnicity. A total of 866 patients with pre-diabetes and 2,376 patients with T2DM were seen in a family medicine outpatient clinic. About 41.5% of patients with pre-diabetes and 34.7% of those with T2DM had registered for the web portal. In logistic regression analysis, web portal registration among patients with T2DM was significantly associated with age 41-45 years, and with Hispanic ethnicity. Similar results were obtained for pre-diabetes except that the positive association with age 41-45 years and inverse association with Hispanic ethnicity were not statistically significant. Among patients with pre-diabetes or T2DM, Black men and Black women were less likely to have registered than their white counterparts. Patients who were aged 18-25 and >65 years were less likely to have registered for the web portal than those 26-65 years. Additional research is needed to identify portal design features that improve health outcomes for patients with pre-diabetes and T2DM and interventions that will increase use of patient portals by pre-diabetic and diabetic patients, especially among Black patients and older patients.

  14. Global mapping of cell type-specific open chromatin by FAIRE-seq reveals the regulatory role of the NFI family in adipocyte differentiation.

    Directory of Open Access Journals (Sweden)

    Hironori Waki

    2011-10-01

    Full Text Available Identification of regulatory elements within the genome is crucial for understanding the mechanisms that govern cell type-specific gene expression. We generated genome-wide maps of open chromatin sites in 3T3-L1 adipocytes (on day 0 and day 8 of differentiation and NIH-3T3 fibroblasts using formaldehyde-assisted isolation of regulatory elements coupled with high-throughput sequencing (FAIRE-seq. FAIRE peaks at the promoter were associated with active transcription and histone modifications of H3K4me3 and H3K27ac. Non-promoter FAIRE peaks were characterized by H3K4me1+/me3-, the signature of enhancers, and were largely located in distal regions. The non-promoter FAIRE peaks showed dynamic change during differentiation, while the promoter FAIRE peaks were relatively constant. Functionally, the adipocyte- and preadipocyte-specific non-promoter FAIRE peaks were, respectively, associated with genes up-regulated and down-regulated by differentiation. Genes highly up-regulated during differentiation were associated with multiple clustered adipocyte-specific FAIRE peaks. Among the adipocyte-specific FAIRE peaks, 45.3% and 11.7% overlapped binding sites for, respectively, PPARγ and C/EBPα, the master regulators of adipocyte differentiation. Computational motif analyses of the adipocyte-specific FAIRE peaks revealed enrichment of a binding motif for nuclear family I (NFI transcription factors. Indeed, ChIP assay showed that NFI occupy the adipocyte-specific FAIRE peaks and/or the PPARγ binding sites near PPARγ, C/EBPα, and aP2 genes. Overexpression of NFIA in 3T3-L1 cells resulted in robust induction of these genes and lipid droplet formation without differentiation stimulus. Overexpression of dominant-negative NFIA or siRNA-mediated knockdown of NFIA or NFIB significantly suppressed both induction of genes and lipid accumulation during differentiation, suggesting a physiological function of these factors in the adipogenic program. Together, our

  15. Intensive multifactorial treatment modifies the effect of family history of diabetes on glycaemic control in people with Type 2 diabetes: a post hoc analysis of the ADDITION-Denmark randomized controlled trial.

    Science.gov (United States)

    Eliraqi, G M; Vistisen, D; Lauritzen, T; Sandbaek, A; Jørgensen, M E; Faerch, K

    2015-08-01

    To investigate whether intensive multifactorial treatment can reverse the predisposed adverse phenotype of people with Type 2 diabetes who have a family history of diabetes. Data from the randomized controlled trial ADDITION-Denmark were used. A total of 1441 newly diagnosed patients with diabetes (598 with family history of diabetes) were randomized to intensive treatment or routine care. Family history of diabetes was defined as having one parent and/or sibling with diabetes. Linear mixed-effects models were used to assess the changes in risk factors (BMI, waist circumference, blood pressure, lipids and HbA1c ) after 5 years of follow-up in participants with and without a family history of diabetes. An interaction term between family history of diabetes and treatment group was included in the models to test for a modifying effect of the intervention. All analyses were adjusted for age, sex, baseline value of the risk factor and general practice (random effect). At baseline, participants with a family history of diabetes were younger and had a 1.1 mmol/mol (0.1%) higher HbA1c concentration at the time of diagnosis than those without a family history of diabetes. Family history of diabetes modified the effect of the intervention on changes in HbA1c levels. In the group receiving routine care, participants with a family history of diabetes experienced an improvement in HbA1c concentration that was 3.3 mmol/mol (0.3%) lower than the improvement found in those without a family history of diabetes after 5 years of follow-up. In the intensive treatment group, however, there was no difference in HbA1c concentrations between participants with and without a family history of diabetes after 5 years of treatment. Intensive treatment of diabetes may partly remove the adverse effects of family history of diabetes on glycaemic control. The effect of this improvement on long-term diabetic complications warrants further investigation. © 2015 The Authors. Diabetic Medicine

  16. Differential modulation of plant immune responses by diverse members of the Pseudomonas savastanoi pv. savastanoi HopAF type III effector family.

    Science.gov (United States)

    Castañeda-Ojeda, M Pilar; López-Solanilla, Emilia; Ramos, Cayo

    2017-06-01

    The Pseudomonas savastanoi pv. savastanoi NCPPB 3335 type III secretion system (T3SS) effector repertoire includes 33 candidates, seven of which translocate into host cells and interfere with plant defences. The present study was performed to investigate the co-existence of both plasmid- and chromosomal-encoded members of the HopAF effector family, HopAF1-1 and HopAF1-2, respectively, in the genome of NCPPB 3335. Here, we show that the HopAF1 paralogues are widely distributed in the Pseudomonas syringae complex, where HopAF1-1 is most similar to the homologues encoded by other P. syringae pathovars infecting woody hosts that belong to phylogroups 1 and 3. We show that the expression of both HopAF1-1 and HopAF-2 is transcriptionally dependent on HrpL and demonstrate their delivery into Nicotiana tabacum leaves. Although the heterologous delivery of either HopAF1-1 or HopAF1-2 significantly suppressed the production of defence-associated reactive oxygen species levels, only HopAF1-2 reduced the levels of callose deposition. Moreover, the expression of HopAF1-2 by functionally effectorless P. syringae pv. tomato DC3000D28E completely inhibited the hypersensitive response in tobacco and significantly increased the competitiveness of the strain in Nicotiana benthamiana. Despite their functional differences, subcellular localization studies reveal that green fluorescent protein (GFP) fusions to either HopAF1-1 or HopAF1-2 are targeted to the plasma membrane when they are expressed in plant cells, a process that is completely dependent on the integrity of their N-myristoylation motif. Our results further support the notion that highly similar T3SS effectors might differentially interact with diverse plant targets, even when they co-localize in the same cell compartment. © 2016 BSPP AND JOHN WILEY & SONS LTD.

  17. Lipodistrofia parcial familiar do tipo Dunnigan: atenção ao diagnóstico precoce Dunnigan-type familial partial lipodystrophy: attention to precocious diagnosis

    Directory of Open Access Journals (Sweden)

    Lenora Maria Camarate Silveira Martins Leão

    2011-02-01

    Full Text Available A lipodistrofia parcial familiar tipo Dunnigan é uma doença autossômica dominante rara. Em sua forma clássica, é resultante de uma mutação missense heterozigótica no gene LMNA, que codifica a proteína nuclear denominada lâmina tipo A/C. Caracteriza-se pelo desaparecimento progressivo do tecido adiposo subcutâneo nos membros, região glútea, abdome e tronco, que se inicia na puberdade, acompanhado de acúmulo de gordura em outras áreas, como a face, queixo, grandes lábios e região intra-abdominal, conferindo o aspecto de hipertrofia muscular e simulando o fenótipo de síndrome de Cushing. Mulheres afetadas são particularmente predispostas à resistência à insulina e suas complicações, incluindo sinais da síndrome dos ovários policísticos. Com o objetivo de alertar para o diagnóstico precoce, que possibilita a adoção de medidas que minimizam os graves distúrbios metabólicos vinculados à desordem, relatamos o caso de uma paciente em que a investigação foi realizada somente ao final da quinta década de vida. A aparente hipertrofia muscular e o acentuado depósito de gordura nos grandes lábios possibilitam aos médicos ginecologistas a suspeita diagnóstica.Dunnigan-type familial partial lipodystrophy (FPLD is an autosomal dominant disease that results from heterozygous missense mutations in LMNA, the gene that encodes nuclear lamin A/C. FPLD is characterized by a progressive disappearance of subcutaneous adipose tissue in the limbs, gluteal region, abdomen and trunk, beginning at the time of or after puberty, and excessive amount of fat in the face, chin, labia majora, and intra-abdominal region, leading to a Cushingoid appearance and increased muscularity phenotype. Affected women are particularly predisposed to insulin resistance and its complications, including features of polycystic ovary syndrome. To emphasize the importance of an early FPLD diagnosis, which is necessary to prevent serious metabolic

  18. Human T-cell lymphotropic virus type 1 provirus and phylogenetic analysis in patients with mycosis fungoides and their family relatives.

    Science.gov (United States)

    Shohat, M; Shohat, B; Mimouni, D; Pauli, G; Ellerbrok, H; David, M; Hodak, E

    2006-08-01

    Mycosis fungoides (MF) is a cutaneous T-cell lymphoma of unknown aetiology. A pathogenic role of human T-cell lymphotropic virus type 1 (HTLV-1) has been suggested but remains controversial. To determine whether MF is linked to HTLV-1. Blood samples were collected from 60 patients, 15 family relatives of patients with MF (MFRs), 20 healthy controls and 10 patients with HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP). The presence of HTLV-1 antibodies in serum was tested by the Western blot rp21e-enhanced test. DNA was extracted from the blood with the Qiagen blood kit. We used 500 ng of DNA either in conventional HTLV-1-specific polymerase chain reaction (PCR) or in real-time PCR using primers sk43 and sk44 together with a tax-specific fluorescent probe. In Western blot, antibodies against three to four HTLV-1 antigens were detected in 52% of patients with MF. All of the patients with HAM/TSP were positive, while only 7% of the MFRs and none of the 20 healthy controls reacted with HTLV-1 antigens in Western blot. One of 60 patients with MF and one of 15 MFRs were positive in HTLV-1 PCR. These two PCR-positive samples which were quantified in real-time PCR showed that fewer than five in 10(6) cells were HTLV-1 infected. We succeeded in amplifying and sequencing the 5' end of the provirus from the blood of the PCR-positive MFR by seminested PCR. A positive result was also obtained in this test. Phylogenetic tree analyses revealed a high homology of this sequence with other HTLV-1 sequences from the Middle East. The above PCR-positive MFR was the brother of a PCR-negative patient with MF. These findings demonstrate that HTLV-1 is probably not the aetiological agent of MF. However, it may play a role in immunosuppression and in the spreading of the disease.

  19. 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.

  20. Family Meals

    Science.gov (United States)

    ... Staying Safe Videos for Educators Search English Español Family Meals KidsHealth / For Parents / Family Meals What's in ... even more important as kids get older. Making Family Meals Happen It can be a big challenge ...

  1. Family Arguments

    Science.gov (United States)

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

  2. Family History

    Science.gov (United States)

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

  3. Family Issues

    Science.gov (United States)

    ... Some have two parents, while others have a single parent. Sometimes there is no parent and grandparents raise grandchildren. Some children live in foster families, adoptive families, or in stepfamilies. Families are much ...

  4. Family Disruptions

    Science.gov (United States)

    ... Spread the Word Shop AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care ... Life Listen Español Text Size Email Print Share Family Disruptions Page Content Article Body No matter how ...

  5. Phenotype of Usher syndrome type II assosiated with compound missense mutations of c.721 C>T and c.1969 C>T in MYO7A in a Chinese Usher syndrome family

    OpenAIRE

    Zhai, Wei; Jin, Xin; Gong, Yan; Qu, Ling-Hui; Zhao, Chen; Li, Zhao-Hui

    2015-01-01

    AIM:To identify the pathogenic mutations in a Chinese pedigree affected with Usher syndrome type II (USH2).METHODS:The ophthalmic examinations and audiometric tests were performed to ascertain the phenotype of the family. To detect the genetic defect, exons of 103 known RDs -associated genes including 12 Usher syndrome (USH) genes of the proband were captured and sequencing analysis was performed to exclude known genetic defects and find potential pathogenic mutations. Subsequently, candidate...

  6. Types of Dementia

    Science.gov (United States)

    ... Kids For Teens For Parents & Teachers Resolving Family Conflicts The Holidays and Alzheimer's Glossary Virtual Library Online ... Use Map Selector Search Alzheimer’s Association Alzheimer's & Dementia Types of Dementia Types of Dementia Types of Dementia ...

  7. Utilizing Genomics through Family Health History with the Theory of Planned Behavior: Prediction of Type 2 Diabetes Risk Factors and Preventive Behavior in an African American Population in Florida.

    Science.gov (United States)

    Seaborn, Cynthia; Suther, Sandra; Lee, Torhonda; Kiros, Gebre-Egziabher; Becker, Alan; Campbell, Ellen; Collins-Robinson, Jackie

    2016-01-01

    African Americans are disproportionately affected by type 2 diabetes. The purpose of this study was to assess to what extent African Americans' knowledge and awareness of family health history and related risk factors for developing type 2 diabetes influence their likelihood of adopting a preventive behavior. This study employed an anonymous pencil-and-paper, self-administered survey consisting of two sections. Section 1 was a modified version of the US Surgeon General's Family Health History Initiative and the American Diabetes Association Diabetes Risk Factor Survey. Section 2 of the survey was based on the constructs of the theory of planned behavior. Over 394 African American participants completed the survey. 'Perceived behavioral control' was the strongest predictor of 'likelihood of adopting preventive behavior'. Participants were aware of their family history as a risk factor for type 2 diabetes, but it was not a significant predictor of behavior modifications based on that knowledge. The lack of perceived risk in this population shows the importance of not only knowing one's risk factors but translating those risk factors to a more personalized form that fits into the current lifestyle of the individual in a meaningful way. © 2016 S. Karger AG, Basel.

  8. System Characteristics and Original Type Features of Chinese Huqin Family Instrument%中国胡琴族乐器的系统类型与原生型特征

    Institute of Scientific and Technical Information of China (English)

    王欣

    2015-01-01

    Combined with brief characteristics of different types of instruments, Chinese huqin family instruments were divided into three types. This article describes their respective shape of holding, placing, and playing the instruments. Meanwhile, through meticulous combing for the Chinese Huqin family instruments, the writer summarizes and extracts two types of Chinese Huqin instrument of family - membrane surface vibration system and plate surface vibration system.%结合不同种类乐器的简要特征,将中国胡琴族乐器划分为板箱型、颈箱型和颈杆型,并介绍其各自相应的持琴、置放、演奏形态。同时,通过对中国胡琴族乐器的细致梳理,总结并提炼出中国胡琴族乐器的两种类型——膜面振动系统和板面振动系统。

  9. Family Privilege

    Science.gov (United States)

    Seita, John R.

    2014-01-01

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

  10. The role of type of activity in parent–child interactions within a family literacy programme: comparing prompting boards and shared reading

    NARCIS (Netherlands)

    S. de la Rie; Dr. A.J.S. van Gelderen; R.C.M. van Steensel

    2016-01-01

    To examine what kinds of parent–child interactions are elicited by different literacy-related activities, an exploratory study was conducted with 19 mother–child dyads. Although prompting boards are widely incorporated in pre- and primary school curricula, and in various family literacy programmes,

  11. Ehlers-Danlos Syndrome, Hypermobility Type, Is Linked to Chromosome 8p22-8p21.1 in an Extended Belgian Family

    Directory of Open Access Journals (Sweden)

    Delfien Syx

    2015-01-01

    Full Text Available Joint hypermobility is a common, mostly benign, finding in the general population. In a subset of individuals, however, it causes a range of clinical problems, mainly affecting the musculoskeletal system. Joint hypermobility often appears as a familial trait and is shared by several heritable connective tissue disorders, including the hypermobility subtype of the Ehlers-Danlos syndrome (EDS-HT or benign joint hypermobility syndrome (BJHS. These hereditary conditions provide unique models for the study of the genetic basis of joint hypermobility. Nevertheless, these studies are largely hampered by the great variability in clinical presentation and the often vague mode of inheritance in many families. Here, we performed a genome-wide linkage scan in a unique three-generation family with an autosomal dominant EDS-HT phenotype and identified a linkage interval on chromosome 8p22-8p21.1, with a maximum two-point LOD score of 4.73. Subsequent whole exome sequencing revealed the presence of a unique missense variant in the LZTS1 gene, located within the candidate region. Subsequent analysis of 230 EDS-HT/BJHS patients resulted in the identification of three additional rare variants. This is the first reported genome-wide linkage analysis in an EDS-HT family, thereby providing an opportunity to identify a new disease gene for this condition.

  12. Perceptions and types of support coming from families caring for patients suffering from advanced illness in Kinshasa, Democratic Republic of Congo.

    Science.gov (United States)

    Lofandjola, Jacques Masumbuku; Sumaili, Ernest Kiswaya; Mairiaux, Philippe; Petermans, Jean

    2017-08-01

    Perceptions of families who take care of patients suffering from advanced illness are rarely considered in Kinshasa medical practices; nevertheless, these families are the main actors involved in such care. The objective of this present study was to illustrate, in a Congolese context, the perceptions of families on the care of patients suffering from advanced illness, and to identify the possible aids provided by healthcare facilities. A qualitative study was performed among focus groups in six hospitals in Kinshasa. Each group included eight members. We gathered factors that could negatively influence the care of a patient suffering from advanced disease. Such factors included: scarcity of and inaccessibility to painkillers, economic resilience, poor quality treatment, lack of psychological counselling, seeking alternative solutions and poor communication between caregivers and patients. In contrast, the study also showed that relatives caring for these patients often receive support from the wider family and from cult members. This study focuses on the miscommunication between healthcare workers and patients, poor management in advanced illness as well as a lack of psychological support from caregivers. The findings can serve as basis for further research in palliative care.

  13. Family Violence and Family Physicians

    Science.gov (United States)

    Herbert, Carol P.

    1991-01-01

    The acronym IDEALS summarizes family physicians' obligations when violence is suspected: to identify family violence; document injuries; educate families and ensure safety for victims; access resources and coordinate care; co-operate in the legal process; and provide support for families. Failure to respond reflects personal and professional experience and attitudes, fear of legal involvement, and lack of knowledge. Risks of intervention include physician burnout, physician overfunctioning, escalation of violence, and family disruption. PMID:21228987

  14. Children's Impressions of Television Families.

    Science.gov (United States)

    Wartella, Ellen

    This research study examines the types of social behaviors portrayed by families in various television series and explores children's impressions of the TV family members. Content analysis of nine family-oriented TV series was employed to describe the ranges of behaviors of fathers, mothers and children on television. Eleven shows from each series…

  15. Extended family medicine training

    Science.gov (United States)

    Slade, Steve; Ross, Shelley; Lawrence, Kathrine; Archibald, Douglas; Mackay, Maria Palacios; Oandasan, Ivy F.

    2016-01-01

    Abstract Objective To examine trends in family medicine training at a time when substantial pedagogic change is under way, focusing on factors that relate to extended family medicine training. Design Aggregate-level secondary data analysis based on the Canadian Post-MD Education Registry. Setting Canada. Participants All Canadian citizens and permanent residents who were registered in postgraduate family medicine training programs within Canadian faculties of medicine from 1995 to 2013. Main outcome measures Number and proportion of family medicine residents exiting 2-year and extended (third-year and above) family medicine training programs, as well as the types and numbers of extended training programs offered in 2015. Results The proportion of family medicine trainees pursuing extended training almost doubled during the study period, going from 10.9% in 1995 to 21.1% in 2013. Men and Canadian medical graduates were more likely to take extended family medicine training. Among the 5 most recent family medicine exit cohorts (from 2009 to 2013), 25.9% of men completed extended training programs compared with 18.3% of women, and 23.1% of Canadian medical graduates completed extended training compared with 13.6% of international medical graduates. Family medicine programs vary substantially with respect to the proportion of their trainees who undertake extended training, ranging from a low of 12.3% to a high of 35.1% among trainees exiting from 2011 to 2013. Conclusion New initiatives, such as the Triple C Competency-based Curriculum, CanMEDS–Family Medicine, and Certificates of Added Competence, have emerged as part of family medicine education and credentialing. In acknowledgment of the potential effect of these initiatives, it is important that future research examine how pedagogic change and, in particular, extended training shapes the care family physicians offer their patients. As part of that research it will be important to measure the breadth and uptake of

  16. [Impact of the positive appraisal of care on quality of life, purpose in life, and will to continue care among Japanese family caregivers of older adults: analysis by kinship type].

    Science.gov (United States)

    Yamamoto-Mitani, Noriko; Ishigaki, Kazuko; Kuniyoshi, Midori; Kawahara-Maekawa, Noriko; Hasegawa, Kiyomi; Hayashi, Kunihiko; Sugishita, Chieko

    2002-07-01

    The impact of positive appraisal of care (PAC) on the caregiver's quality of life (QL), sense of purpose in life (sense of ikigai) and will to continue care was examined. Data were collected from 322 Japanese family caregivers of older adults who were using visiting nursing services through 21 facilities in the Tokyo metropolitan area, and the prefectures of Shizuoka, Mie and Okinawa. The data were grouped by kinship type (husband or son, wife, daughter or daughter-in-law) and analyzed separately. From the multiple regression and logistic regression analyses, the following results were derived: 1) The PAC was not related to the physical QL regardless of the relationship type; 2) The relationship depended upon the relationship type: only the PAC was related to the mental QL among husband and son caregivers, both the PAC and the negative appraisal of care (NAC) were important among wives, only the NAC among daughters, and none of them among daughters-in-law; 3) Both the PAC and NAC were related to the sense of ikigai in all caregiver types except among husband and son caregivers, which showed no relationship between the NAC and sense of ikigai; 4) Both the PAC and NAC were related to will to continue care among son and husband caregivers, whereas only the PAC was among wives and daughters-in-law. Only the NAC was related among daughters. However, the difference across kinship type seems minimal for will to continue care. Understanding the PAC among family caregivers may be important in order to better assist them to improve their mental QL or sense of ikigai as well as to predict their continuation of caregiving at home. The impact of PAC varies depending on the kinship type, and it should be assessed separately with reference to this pariable to develop plans for appropriate assistance.

  17. Discriminative Ability of Plasma Branched-Chain Amino Acid Levels for Glucose Intolerance in Families At Risk for Type 2 Diabetes.

    Science.gov (United States)

    Jainandunsing, Sjaam; Wattimena, J L Darcos; Verhoeven, Adrie J M; Langendonk, Janneke G; Rietveld, Trinet; Isaacs, Aaron J; Sijbrands, Eric J G; de Rooij, Felix W M

    2016-04-01

    Insulin resistance and glucose intolerance have been associated with increased plasma levels of branched-chain amino acids (BCAA). BCAA levels do not predict T2DM in the population. We determined the discriminative ability of fasting BCAA levels for glucose intolerance in nondiabetic relatives of patients with T2DM of two different ethnicities. Based on oral glucose tolerance test (OGTT), first-degree relatives of patients with T2DM were categorized as normal glucose tolerance, prediabetes, or T2DM. Included were 34, 12, and 18 Caucasian and 22, 12, and 23 Asian Indian participants, respectively. BCAA levels were measured in fasting plasma together with alanine, phenylalanine, and tyrosine. Insulin sensitivity and beta-cell function were assessed by indices derived from an extended OGTT and their relationship with plasma BCAA levels was assessed in multivariate regression analysis. The value of the amino acids for discriminating prediabetes among nondiabetic family members was determined with the area under the curve of receiver-operated characteristics (c-index). BCAA levels were higher in diabetic than in normoglycemic family members in the Caucasians (P = 0.001) but not in the Asian Indians. In both groups, BCAA levels were associated with waist-hip ratio (β = 0.31; P = 0.03 and β = 0.42; P = 0.001, respectively) but not with indices of insulin sensitivity or beta-cell function. The c-index of BCAA for discriminating prediabetes among nondiabetic participants was 0.83 and 0.74 in Caucasians and Asian Indians, respectively, which increased to 0.84 and 0.79 by also including the other amino acids. The c-index of fasting glucose for discriminating prediabetes increased from 0.91 to 0.92 in Caucasians and 0.85 to 0.97 (P = 0.04) in Asian Indians by inclusion of BCAA+alanine, phenylalanine, and tyrosine. Adding fasting plasma BCAA levels, combined with phenylalanine, tyrosine and alanine to fasting glucose improved discriminative ability for the prediabetic state

  18. Family Issues

    Science.gov (United States)

    ... es Autismo? Family Issues Home / Living with Autism / Family Issues Stress Siblings A child’s autism diagnosis affects every member of the family in different ways. Parents/caregivers must now place their ... may put stress on their marriage, other children, work, finances, and ...

  19. A new psammosteid (Agnatha, Heterostraci from the Amata Regional Stage of the Main Devonian Field and morpho-histological types of discrete micromeric elements in the family Psammosteidae

    Directory of Open Access Journals (Sweden)

    Vadim N. Glinskiy

    2017-05-01

    Full Text Available In memory of an outstanding palaeoichthyologist Elga Mark-Kurik The range of diversity of psammosteids from the family Psammosteidae is still poorly known. Here a new species, Psammosteus ramosus sp. nov. Glinskiy, from the Amata Regional Stage of the Main Devonian Field is described. Its morphology, ornamentation, histology of exoskeletal plates, and micromeric elements are compared with those of other representatives of the family Psammosteidae. The comparison shows a close relationship of the new species with Psammosteus falcatus Obruchev, P. kiaeri Halstead Tarlo and P. pectinatus Obruchev, a group of species that is significantly different from other representatives of the genus Psammosteus and constitutes a separate evolutionary lineage. On the basis of morphological and histological features we here differentiate in the fields of tesserae of Psammosteidae the discrete micromeric elements of the ‘basic type’, known in Psammosteus bergi (Obruchev, P. levis Obruchev, P. livonicus Obruchev, P. maeandrinus Agassiz, P. megalopteryx (Trautschold, P. praecursor Obruchev and Karelosteus weberi Obruchev, and micromeric elements of the ‘progressive type’, known in Psammosteus falcatus, P. cf. kiaeri and P. ramosus sp. nov. Glinskiy.

  20. Citrullinemia type I, classical variant. Identification of ASS-p~G390R (c.1168G>A) mutation in families of a limited geographic area of Argentina: a possible population cluster.

    Science.gov (United States)

    Laróvere, Laura E; Angaroni, Celia J; Antonozzi, Sandra L; Bezard, Miriam B; Shimohama, Mariko; de Kremer, Raquel Dodelson

    2009-07-01

    Citrullinemia type I (CTLN1) is an urea cycle defect caused by mutations in the argininosuccinate synthetase gene. We report the first identification in Argentina of patients with CTLN1 in a limited geographic area. Molecular analysis in patient/relatives included PCR, sequencing and restriction enzyme assay. The studied families showed the same mutation: ASS~p.G390R, associated with the early-onset/severe phenotype. We postulate a possible population cluster. A program to know the carrier frequency in that population is in progress.

  1. Jamaican families.

    Science.gov (United States)

    Miner, Dianne Cooney

    2003-01-01

    The study of the family in the Caribbean originated with European scholars who assumed the universality of the patriarchal nuclear family and the primacy of this structure to the healthy functioning of society. Matrifocal Caribbean families thus were seen as chaotic and disorganized and inadequate to perform the essential tasks of the social system. This article provides a more current discussion of the Jamaican family. It argues that its structure is the result of the agency and adaptation of its members and not the root cause of the increasing marginalization of peoples in the developing world. The article focuses on families living in poverty and how the family structure supports essential family functions, adaptations, and survival.

  2. Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5)

    DEFF Research Database (Denmark)

    Pagel, Julia; Beutel, Karin; Lehmberg, Kai

    2012-01-01

    the genetic and clinical spectrum of FHL5, we analyzed a cohort of 185 patients with suspected FHL for mutations in STXBP2. We detected biallelic mutations in 37 patients from 28 families of various ethnic origins. Missense mutations and mutations affecting 1 of the exon 15 splice sites were the predominant...... changes detectable in this cohort. Patients with exon 15 splice-site mutations (n = 13) developed clinical manifestations significantly later than patients with other mutations (median age, 4.1 year vs 2 months) and showed less severe impairment of degranulation and cytotoxic function of NK cells and CTLs....... Patients with FHL5 showed several atypical features, including sensorineural hearing deficit, abnormal bleeding, and, most frequently, severe diarrhea that was only present in early-onset disease. In conclusion, we report the largest cohort of patients with FHL5 so far, describe an extended disease...

  3. Anomalous adrenal vein anatomy complicating the evaluation of primary hyperaldosteronism

    Directory of Open Access Journals (Sweden)

    Kaitlin M. Ford, BS

    2018-02-01

    Full Text Available Adrenal vein development in utero occurs concurrently with the development of the inferior vena cava, the renal veins, and the gonadal veins. The embryologic formation of these veins involves communication of various venous systems. Although the left adrenal-renal vein complex is most commonly described as a shared emptying of the left adrenal vein and the left inferior phrenic vein into the left renal vein, there have been reports of numerous anatomic variations of this complex. In this report, we present a case of a rare variant of the left adrenal vein, in which the left adrenal vein empties into the left gonadal vein, which takes an atypical course superolateral to the left kidney.

  4. The crystal structure of Erwinia amylovora AmyR, a member of the YbjN protein family, shows similarity to type III secretion chaperones but suggests different cellular functions.

    Science.gov (United States)

    Bartho, Joseph D; Bellini, Dom; Wuerges, Jochen; Demitri, Nicola; Toccafondi, Mirco; Schmitt, Armin O; Zhao, Youfu; Walsh, Martin A; Benini, Stefano

    2017-01-01

    AmyR is a stress and virulence associated protein from the plant pathogenic Enterobacteriaceae species Erwinia amylovora, and is a functionally conserved ortholog of YbjN from Escherichia coli. The crystal structure of E. amylovora AmyR reveals a class I type III secretion chaperone-like fold, despite the lack of sequence similarity between these two classes of protein and lacking any evidence of a secretion-associated role. The results indicate that AmyR, and YbjN proteins in general, function through protein-protein interactions without any enzymatic action. The YbjN proteins of Enterobacteriaceae show remarkably low sequence similarity with other members of the YbjN protein family in Eubacteria, yet a high level of structural conservation is observed. Across the YbjN protein family sequence conservation is limited to residues stabilising the protein core and dimerization interface, while interacting regions are only conserved between closely related species. This study presents the first structure of a YbjN protein from Enterobacteriaceae, the most highly divergent and well-studied subgroup of YbjN proteins, and an in-depth sequence and structural analysis of this important but poorly understood protein family.

  5. Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C.

    Science.gov (United States)

    Boulouiz, Redouane; Li, Yun; Abidi, Omar; Bolz, Hanno; Chafik, Abdelaziz; Kubisch, Christian; Roub, Hassan; Wollnik, Bernd; Barakat, Abdelhamid

    2007-10-02

    Mutations in the MYO7A gene are responsible for Usher syndrome type 1B (USH1B), the most common USH1 subtype, which accounts for the largest proportion of USH1 cases in most populations. Molecular genetic diagnosis in Usher syndrome is well established and identification of the underlying mutations in Usher patients is important for confirmation of the clinical diagnosis and genetic counseling. We analyzed a large consanguineous USH1 family from Morocco and linked the disease in this family to the MYO7A/USH1B locus. We identified the frequently described missense change p.Y1719C. In addition, we found the homozygous c.1687G>A mutation in the last nucleotide of exon 14, which is predicted to result in aberrant splicing and may lead to loss of MYO7A transcript. We further showed that p.Y1719C is not disease-causing but does represent a frequent polymorphism in the Moroccan population, with an estimated carrier frequency of 0.07. This finding has an important impact for molecular diagnosis and genetic counseling in USH1B families.

  6. Genetic Diversity of Mycobacterium tuberculosis Isolates from Assam, India: Dominance of Beijing Family and Discovery of Two New Clades Related to CAS1_Delhi and EAI Family Based on Spoligotyping and MIRU-VNTR Typing.

    Science.gov (United States)

    Devi, Kangjam Rekha; Bhutia, Rinchenla; Bhowmick, Shovonlal; Mukherjee, Kaustab; Mahanta, Jagadish; Narain, Kanwar

    2015-01-01

    Tuberculosis (TB) is one of the major public health concerns in Assam, a remote state located in the northeastern (NE) region of India. The present study was undertaken to explore the circulating genotypes of Mycobacterium tuberculosis complex (MTBC) in this region. A total of 189 MTBC strains were collected from smear positive pulmonary tuberculosis cases from different designated microscopy centres (DMC) from various localities of Assam. All MTBC isolates were cultured on Lowenstein-Jensen (LJ) media and subsequently genotyped using spoligotyping and 24-loci mycobacterial interspersed repetitive units-variable number of tandem repeats (MIRU-VNTR) typing. Spoligotyping of MTBC isolates revealed 89 distinct spoligo patterns. The most dominant MTBC strain belonged to Beijing lineage and was represented by 35.45% (n = 67) of total isolates, followed by MTBC strains belonging to Central Asian-Delhi (CAS/Delhi) lineage and East African Indian (EAI5) lineage. In addition, in the present study 43 unknown spoligo patterns were detected. The discriminatory power of spoligotyping was found to be 0.8637 based on Hunter Gaston Discriminatory Index (HGDI). On the other hand, 24-loci MIRU-VNTR typing revealed that out of total 189 MTBC isolates from Assam 185 (97.9%) isolates had unique MIRU-VNTR profiles and 4 isolates grouped into 2 clusters. Phylogenetic analysis of 67 Beijing isolates based on 24-loci MIRU-VNTR typing revealed that Beijing isolates from Assam represent two major groups, each comprising of several subgroups. Neighbour-Joining (NJ) phylogenetic tree analysis based on combined spoligotyping and 24-loci MIRU-VNTR data of 78 Non-Beijing isolates was carried out for strain lineage identification as implemented by MIRU-VNTRplus database. The important lineages of MTBC identified were CAS/CAS1_Delhi (41.02%, n = 78) and East-African-Indian (EAI, 33.33%). Interestingly, phylogenetic analysis of orphan (23.28%) MTBC spoligotypes revealed that majority of these orphan

  7. Familial co-segregation of Coffin-Lowry syndrome inherited from the mother and autosomal dominant Waardenburg type IV syndrome due to deletion of EDNRB inherited from the father.

    Science.gov (United States)

    Loupe, Jacob; Sampath, Srirangan; Lacassie, Yves

    2014-10-01

    We report an African-American family that was identified after the proposita was referred for diagnostic evaluation at 4½ months with a history of Hirschsprung and dysmorphic features typical of Waardenburg syndrome (WS). Family evaluation revealed that the father had heterochromidia irides and hypertelorism supporting the clinical diagnosis of WS; however, examination of the mother revealed characteristic facial and digital features of Coffin-Lowry syndrome (CLS). Molecular testing of the mother identified a novel 2 bp deletion (c.865_866delCA) in codon 289 of RPS6KA3 leading to a frame-shift and premature termination of translation 5 codons downstream (NM_004586.2:p.Gln289ValfsX5). This deletion also was identified in the proposita and her three sisters with a clinical suspicion of CLS, all of whom as carriers for this X-linked disorder had very subtle manifestations. The molecular confirmation of WS type 4 (Shah-Waardenburg; WS4) was not as straightforward. To evaluate WS types 1-4, multiple sequential molecular tests were requested, including Sanger sequencing of all exons, and deletion/duplication analysis using MLPA for PAX3, MITF, SOX10, EDN3 and EDNRB. Although sequencing did not identify any disease causing variants, MLPA identified a heterozygous deletion of the entire EDNRB in the father. This deletion was also found in the proposita and the oldest child. Since the heterozygous deletion was the only change identified in EDNRB, this family represents one of the few cases of an autosomal dominant inheritance of WS4 involving the endothelin pathway. Altogether, clinical evaluation of the family revealed one child to be positive for WS4 and two positive for CLS, while two children were positive for both diseases simultaneously (including the proposita) while another pair test negative for either disease. This kinship is an example of the coincidence of two conditions co-segregating in one family, with variable phenotypes requiring molecular testing to

  8. Expansion of the IncX plasmid family for improved identification and typing of novel plasmids in drug-resistant Enterobacteriaceae

    DEFF Research Database (Denmark)

    Johnson, Timothy J.; Bielak, Eliza Maria; Fortini, Daniela

    2012-01-01

    and biofilm formation. Previous plasmid-based replicon typing procedures have indicated that the prevalence of IncX plasmids is low among members of the Enterobacteriaceae. However, examination of a number of IncX-like plasmid sequences and their occurrence in various organisms suggests that IncX plasmid...

  9. Family Polymorphism

    DEFF Research Database (Denmark)

    Ernst, Erik

    2001-01-01

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

  10. Family literacy

    DEFF Research Database (Denmark)

    Sehested, Caroline

    2012-01-01

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

  11. Community families

    DEFF Research Database (Denmark)

    Jensen, Lotte Groth; Lou, Stina; Aagaard, Jørgen

    2017-01-01

    : Qualitative interviews with members of volunteer families. Discussion: The families were motivated by helping a vulnerable person and to engaging in a rewarding relationship. However, the families often doubted their personal judgment and relied on mental health workers to act as safety net. Conclusion......Background: Social interventions targeted at people with severe mental illness (SMI) often include volunteers. Volunteers' perspectives are important for these interventions to work. The present paper investigates the experiences of volunteer families who befriend a person with SMI. Material...

  12. A possible new syndrome with double endocrine tumors in association with an unprecedented type of familial heart-hand syndrome: a case report

    Directory of Open Access Journals (Sweden)

    Yamagishi Masakazu

    2010-10-01

    Full Text Available Abstract Introduction The combination of a pituitary prolactinoma and an aldosterone-producing adrenal adenoma is extremely rare. To the best of our knowledge, double endocrine tumors in association with heart-hand syndrome have not previously been reported. Case presentation A 21-year-old Japanese woman presented with galactorrhea and decreased visual acuity. A large pituitary adenoma with an increased level of serum prolactin was apparent by computed tomography. She additionally showed mild hypertension (136/90 mmHg accompanied by hypokalemia. The plasma aldosterone concentration was increased. Computed tomography showed a mass in the right adrenal gland. No other tumors were found despite extensive imaging studies. Physical and radiographic examinations showed skeletal malformations of the hands and feet, including hypoplasia of the first digit in all four limbs. An atrial septal defect was demonstrated by echocardiography. Similar digital and cardiac abnormalities were detected in our patient's father, and a clinical diagnosis of hereditary heart-hand syndrome was made. Conclusion No established heart-hand syndrome was wholly compatible with the family's phenotype. Her father had no obvious endocrine tumors, implying that the parent of transmission determined variable phenotypic expression of the disease: heart-hand syndrome with multiple endocrine tumors from the paternal transmission or no endocrine tumor from the maternal transmission. This suggests that the gene or genes responsible for the disease may be under tissue-specific imprinting control.

  13. Programa Bolsa Família: uma nova modalidade de biopolítica Family Allowance Program: a new type of biopolitics

    Directory of Open Access Journals (Sweden)

    Rémi Fernand Lavergne

    2012-06-01

    Full Text Available O propósito deste artigo é mostrar como o Programa Bolsa Família (PBF remete a uma forma de biopolítica nos termos evocados por Michel Foucault e inscreve-se numa perspectiva de normalização, funcionando pela norma e pela regulamentação. Busca também evidenciar como o Serviço Social e a educação "por toda a vida" têm um importante papel nos processos de subjetivação e de produção de subjetividades com vistas a incidir sobre a conduta das populações indigentes e marginalizadas.The purpose of this article is to show how the Family Allowance Program (Programa Bolsa Família - PBF refers to a form of biopolitics such as evoked by Foucault. Besides illustrating how the PBF is inscribed in a normalizing perspective, the article seeks to show how the Social Services and the Education "for a lifetime" play an important role in terms of building up subjectivity processes and subjective opinions and feelings whose aim is to guide and control the poor and marginalized populations' behavior.

  14. Communication Among Melanoma Family Members

    Science.gov (United States)

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

    2017-01-01

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

  15. This is My Family

    OpenAIRE

    Yeğen, Hale Nur; Çetin, Merve

    2017-01-01

    Me and my family, Families poem, Mother-Father, Brother-Sister, Grandparents, Uncle-Aunt, Cousin, Family, Family handgame, My family tree, Activities (Three In a Family), Digital Games, A family poem, Quiz

  16. A New COL3A1 Mutation in Ehlers-Danlos Syndrome Vascular Type With Different Phenotypes in the Same Family.

    Science.gov (United States)

    Cortini, Francesca; Marinelli, Barbara; Romi, Silvia; Seresini, Agostino; Pesatori, Angela Cecilia; Seia, Manuela; Montano, Nicola; Bassotti, Alessandra

    2017-04-01

    Vascular Ehlers-Danlos syndrome (vEDS) is a rare and severe connective tissue disorder caused by mutations in the collagen type III alpha I chain ( COL3A1) gene. We describe a pathogenetic heterozygous COL3A1 mutation c.3140 G>A, p. Gly1047Asp, identified using next-generation sequencing, in a 40-year-old Italian female. The genetic test performed on her relatives, which present different clinical phenotypes, confirmed that they carry the same mutation in heterozygous state. This finding confirms that mutations causing vEDS have an incomplete penetrance.

  17. [Sodium-glucose co-transporter-2 inhibitors: from the bark of apple trees and familial renal glycosuria to the treatment of type 2 diabetes mellitus].

    Science.gov (United States)

    Mauricio, Dídac

    2013-09-01

    The therapeutic armamentarium for the treatment of hyperglycemia in type 2 diabetes mellitus is still inadequate. We are currently witnessing the introduction of a new mode of hypoglycemic treatment through induction of glycosuria to decrease the availability of the metabolic substrate, i.e. glucose. Clinical trials have shown that sodium-glucose co-transporter-2 (SGLT2) inhibitors are as efficacious as other oral hypoglycemic drugs. This article discusses the basic features of this new treatment concept and the efficacy and safety of this new drug group. Copyright © 2013 Elsevier España, S.L. All rights reserved.

  18. Vasculopatia retiniana exsudativa tipo Coats associada a retinose pigmentar: ocorrência familiar Coats' type exudative vasculopathy associated with retinitis pigmentosa: familial occurrence

    Directory of Open Access Journals (Sweden)

    Valdir Balarin Silva

    2002-09-01

    Full Text Available Os autores apresentam dois casos de vasculopatia retiniana tipo Coats associada a retinose pigmentar. Estes são os primeiros casos entre irmãos descritos no Brasil e nosso objetivo é anexar mais 2 casos, aos 47 descritos na literatura mundial.The authors presents two cases of Coats' type exsudative vasculopathy associated with retinitis pigmentosa. These are the first cases in siblings described in Brazil and our purpose is to add two more cases, to the 47 described in the world literature.

  19. Family problems

    International Nuclear Information System (INIS)

    Goldman, T.

    1984-01-01

    Even Grand Unified Theories may not explain the repetitive pattern of fermions in the Standard Model. The abysmal absence of dynamical information about these ''families'' is emphasized. The evidence that family quantum numbers exist, and are not conserved, is reviewed. It is argued that rare kaon decays may be the best means to obtain more information on this important question

  20. Family problems

    International Nuclear Information System (INIS)

    Goldman, T.

    1984-01-01

    Even Grand Unified Theories may not explain the repetitive pattern of fermions in the Standard Model. The abysmal absence of dynamical information about these families is emphasized. The evidence that family quantum numbers exist, and are not conserved, is reviewed. It is argued that rare kaon decays may be the best means to obtain more information on this important question

  1. Familial hypercholesterolemia

    Science.gov (United States)

    ... and Tests A physical exam may show fatty skin growths called xanthomas and cholesterol deposits in the eye (corneal arcus). The health care provider will ask questions about your personal and family medical history. There may be: A strong family history of ...

  2. FAMILY PYRGOTIDAE.

    Science.gov (United States)

    Mello, Ramon Luciano; Lamas, Carlos José Einicker

    2016-06-14

    Pyrgotidae is a family of endoparasitics flies of beetles with worldwide distribution. The Neotropical fauna is composed by 59 valid species names disposed in 13 genera. The occurrence of Pyrgota longipes Hendel is the first record of the family in Colombia.

  3. Understanding Family Caregiver Communication to Provide Family-Centered Cancer Care.

    Science.gov (United States)

    Wittenberg, Elaine; Buller, Haley; Ferrell, Betty; Koczywas, Marianna; Borneman, Tami

    2017-12-01

    To describe a family caregiver communication typology and demonstrate identifiable communication challenges among four caregiver types: Manager, Carrier, Partner, and Lone. Case studies based on interviews with oncology family caregivers. Each caregiver type demonstrates unique communication challenges that can be identified. Recognition of a specific caregiver type will help nurses to adapt their own communication to provide tailored support. Family-centered cancer care requires attention to the communication challenges faced by family caregivers. Understanding the challenges among four family caregiver communication types will enable nurses to better address caregiver burden and family conflict. Copyright © 2017 Elsevier Inc. All rights reserved.

  4. Identification of Three Types of α-Thalassemia Deletion, -α21.9, -α2.4, and - -THAI, and Their Frequencies, in One Family in the Population of Southern Guangxi Zhuang Autonomous Region, People's Republic of China.

    Science.gov (United States)

    Pang, Wanrong; Long, Ju; Weng, Xunjin; Fan, Qiongying; Sun, Lei; Pan, Zhijian; Fan, Zuqian

    2018-01-01

    Different types of deletional α-thalassemia (α-thal) have been reported by researchers in China. This study describes one family carrying -α 21.9 (NG_000006.1: g.14373_36299delinsGGGAAGGGTGGGTGGGAATAACAGCTTTT), -α 2.4 (NG_000006.1: g.36860_39251del) and - - THAI (Thailand) (NG_000006.1: g.10664_44164del) alleles in Guangxi Zhuang Autonomous Region, People's Republic of China (PRC), and reports the frequencies of these types in the population of this region. The proband was a 4-year-old girl, who screened positive for thalassemia, although the thalassemia genotype results were normal when screened using the routine kits. Samples of the proband's parents were also collected to perform further analyses. Two real-time gap-polymerase chain reaction (gap-PCR) systems were designed for separate detection of - - THAI and screening for -α 21.9 and -α 2.4 . The genotype of the proband was -α 21.9 /-α 2.4 , and the two variants were inherited from her parents. In the frequency study, five - - THAI , four -α 21.9 and 11 -α 2.4 positive individuals were detected in the 3410 random samples. Thus, allele frequencies of -α 21.9 , - - THAI and -α 2.4 in the population of southern Guangxi were determined as 0.059, 0.073 and 0.161%, respectively. This is the first report of an individual carrying the -α 21.9 /-α 2.4 genotype, and the first report of the detection of -α 21.9 , -α 2.4 and - - THAI in a single family. The total frequency for these alleles was 0.293% in southern Guangxi, suggesting that the thalassemia clinical center in this region should utilize a screening kit that allows detection of these types of deletions for a more comprehensive evaluation of thalassemia risk.

  5. Type II heat-labile enterotoxins from 50 diverse Escherichia coli isolates belong almost exclusively to the LT-IIc family and may be prophage encoded.

    Directory of Open Access Journals (Sweden)

    Michael G Jobling

    Full Text Available Some enterotoxigenic Escherichia coli (ETEC produce a type II heat-labile enterotoxin (LT-II that activates adenylate cyclase in susceptible cells but is not neutralized by antisera against cholera toxin or type I heat-labile enterotoxin (LT-I. LT-I variants encoded by plasmids in ETEC from humans and pigs have amino acid sequences that are ≥ 95% identical. In contrast, LT-II toxins are chromosomally encoded and are much more diverse. Early studies characterized LT-IIa and LT-IIb variants, but a novel LT-IIc was reported recently. Here we characterized the LT-II encoding loci from 48 additional ETEC isolates. Two encoded LT-IIa, none encoded LT-IIb, and 46 encoded highly related variants of LT-IIc. Phylogenetic analysis indicated that the predicted LT-IIc toxins encoded by these loci could be assigned to 6 subgroups. The loci corresponding to individual toxins within each subgroup had DNA sequences that were more than 99% identical. The LT-IIc subgroups appear to have arisen by multiple recombinational events between progenitor loci encoding LT-IIc1- and LT-IIc3-like variants. All loci from representative isolates encoding the LT-IIa, LT-IIb, and each subgroup of LT-IIc enterotoxins are preceded by highly-related genes that are between 80 and 93% identical to predicted phage lysozyme genes. DNA sequences immediately following the B genes differ considerably between toxin subgroups, but all are most closely related to genomic sequences found in predicted prophages. Together these data suggest that the LT-II loci are inserted into lambdoid type prophages that may or may not be infectious. These findings raise the possibility that production of LT-II enterotoxins by ETEC may be determined by phage conversion and may be activated by induction of prophage, in a manner similar to control of production of Shiga-like toxins by converting phages in isolates of enterohemmorhagic E. coli.

  6. Family Relationships and Psychosocial Dysfunction among Family Caregivers of Patients with Advanced Cancer

    DEFF Research Database (Denmark)

    Nissen, Kathrine Grovn; Trevino, Kelly; Lange, Theis

    2016-01-01

    CONTEXT: Caring for a family member with advanced cancer strains family caregivers. Classification of family types has been shown to identify patients at risk of poor psychosocial function. However, little is known about how family relationships affect caregiver psychosocial function. OBJECTIVES......: To investigate family types identified by a cluster analysis and to examine the reproducibility of cluster analyses. We also sought to examine the relationship between family types and caregivers' psychosocial function. METHODS: Data from 622 caregivers of advanced cancer patients (part of the Coping with Cancer...... Study) were analyzed using Gaussian Mixture Modeling as the primary method to identify family types based on the Family Relationship Index questionnaire. We then examined the relationship between family type and caregiver quality of life (Medical Outcome Survey Short Form), social support (Interpersonal...

  7. Orientia tsutsugamushi ankyrin repeat-containing protein family members are Type 1 secretion system substrates that traffic to the host cell endoplasmic reticulum.

    Science.gov (United States)

    VieBrock, Lauren; Evans, Sean M; Beyer, Andrea R; Larson, Charles L; Beare, Paul A; Ge, Hong; Singh, Smita; Rodino, Kyle G; Heinzen, Robert A; Richards, Allen L; Carlyon, Jason A

    2014-01-01

    Scrub typhus is an understudied, potentially fatal infection that threatens one billion persons in the Asia-Pacific region. How the causative obligate intracellular bacterium, Orientia tsutsugamushi, facilitates its intracellular survival and pathogenesis is poorly understood. Many intracellular bacterial pathogens utilize the Type 1 (T1SS) or Type 4 secretion system (T4SS) to translocate ankyrin repeat-containing proteins (Anks) that traffic to distinct subcellular locations and modulate host cell processes. The O. tsutsugamushi genome encodes one of the largest known bacterial Ank repertoires plus T1SS and T4SS components. Whether these potential virulence factors are expressed during infection, how the Anks are potentially secreted, and to where they localize in the host cell are not known. We determined that O. tsutsugamushi transcriptionally expresses 20 unique ank genes as well as genes for both T1SS and T4SS during infection of mammalian host cells. Examination of the Anks' C-termini revealed that the majority of them resemble T1SS substrates. Escherichia coli expressing a functional T1SS was able to secrete chimeric hemolysin proteins bearing the C-termini of 19 of 20 O. tsutsugamushi Anks in an HlyBD-dependent manner. Thus, O. tsutsugamushi Anks C-termini are T1SS-compatible. Conversely, Coxiella burnetii could not secrete heterologously expressed Anks in a T4SS-dependent manner. Analysis of the subcellular distribution patterns of 20 ectopically expressed Anks revealed that, while 6 remained cytosolic or trafficked to the nucleus, 14 localized to, and in some cases, altered the morphology of the endoplasmic reticulum. This study identifies O. tsutsugamushi Anks as T1SS substrates and indicates that many display a tropism for the host cell secretory pathway.

  8. Relationships among Maternal Stress and Depression, Type 2 Responses, and Recurrent Wheezing at Age 3 Years in Low-Income Urban Families.

    Science.gov (United States)

    Ramratnam, Sima K; Visness, Cynthia M; Jaffee, Katy F; Bloomberg, Gordon R; Kattan, Meyer; Sandel, Megan T; Wood, Robert A; Gern, James E; Wright, Rosalind J

    2017-03-01

    Maternal depression and prenatal and early life stress may influence childhood wheezing illnesses, potentially through effects on immune development. To test the hypothesis that maternal stress and/or depression during pregnancy and early life are associated with recurrent wheezing and aeroallergen sensitivity and altered cytokine responses (enhanced type 2 or reduced virus-induced cytokine responses) from stimulated peripheral blood mononuclear cells at age 3 years. URECA (Urban Environment and Childhood Asthma) is a birth cohort at high risk for asthma (n = 560) in four inner cities. Maternal stress, depression, and childhood wheezing episodes were assessed by quarterly questionnaires beginning at birth. Logistic and linear regression techniques were used to examine the relation of maternal stress/depression to recurrent wheezing and peripheral blood mononuclear cell cytokine responses at age 3 years. Overall, 166 (36%) children had recurrent wheeze at age 3 years. Measures of maternal perceived stress at Years 2 and 3 were positively associated with recurrent wheeze (P Maternal depression (any year) was significantly associated with recurrent wheezing (P ≤ 0.01). These associations were also significant when considered in a longitudinal analysis of cumulative stress and depression (P ≤ 0.02). Neither stress nor depression was significantly related to aeroallergen sensitization or antiviral responses. Contrary to our original hypothesis, prenatal and Year 1 stress and depression had significant inverse associations with several type 2 cytokine responses. In urban children at high risk for asthma, maternal perceived stress and depression were significantly associated with recurrent wheezing but not increased atopy or reduced antiviral responses.

  9. The family Planococcaceae

    Digital Repository Service at National Institute of Oceanography (India)

    Shivaji, S.; Srinivas, T.N.R.; Reddy, G.S.N.

    rods in case of other genera Diagnostic amino acid in the peptidoglycan is l-lysine with a peptidoglycan variation of A4alfa type Most dominating fatty acids of the family are iso-C15:0 or anteiso-C15:0 or iso-C16:0 or C...

  10. Family Relationships and Psychosocial Dysfunction Among Family Caregivers of Patients With Advanced Cancer.

    Science.gov (United States)

    Nissen, Kathrine G; Trevino, Kelly; Lange, Theis; Prigerson, Holly G

    2016-12-01

    Caring for a family member with advanced cancer strains family caregivers. Classification of family types has been shown to identify patients at risk of poor psychosocial function. However, little is known about how family relationships affect caregiver psychosocial function. To investigate family types identified by a cluster analysis and to examine the reproducibility of cluster analyses. We also sought to examine the relationship between family types and caregivers' psychosocial function. Data from 622 caregivers of advanced cancer patients (part of the Coping with Cancer Study) were analyzed using Gaussian Mixture Modeling as the primary method to identify family types based on the Family Relationship Index questionnaire. We then examined the relationship between family type and caregiver quality of life (Medical Outcome Survey Short Form), social support (Interpersonal Support Evaluation List), and perceived caregiver burden (Caregiving Burden Scale). Three family types emerged: low-expressive, detached, and supportive. Analyses of variance with post hoc comparisons showed that caregivers of detached and low-expressive family types experienced lower levels of quality of life and perceived social support in comparison to supportive family types. The study identified supportive, low-expressive, and detached family types among caregivers of advanced cancer patients. The supportive family type was associated with the best outcomes and detached with the worst. These findings indicate that family function is related to psychosocial function of caregivers of advanced cancer patients. Therefore, paying attention to family support and family members' ability to share feelings and manage conflicts may serve as an important tool to improve psychosocial function in families affected by cancer. Copyright © 2016 American Academy of Hospice and Palliative Medicine. All rights reserved.

  11. Reducing stress and supporting positive relations in families of young children with type 1 diabetes: A randomized controlled study for evaluating the effects of the DELFIN parenting program

    Directory of Open Access Journals (Sweden)

    Saßmann Heike

    2012-09-01

    Full Text Available Abstract Background To assess initial efficacy and feasibility of a structured behavioural group training (DELFIN for parents of children with diabetes type 1, in order to reduce parenting stress and to improve parenting skills. Methods A randomized controlled study was conducted between July 2008 and September 2010, at a children’s hospital in Hannover with parents of children with type 1 diabetes (2–10 yrs (intervention group n = 37; control group n = 28. Parenting skills, parents’ psychological burden, children’s behavioural difficulties and quality of metabolic control were assessed before, 3 months after and 12 months after participating in the training program. Results In the intervention group parenting behaviour in conflict situations improved significantly after 3 months (Z = −3.28; p ≤ 0.001. It remained stable over 12 months (Z = −2.94; p ≤ 0.01. Depression and anxiety scores of parents decreased (Z = −1.93; p ≤ .05; Z = −2.02; p ≤ .05. Even though the outcome in the intervention group was more positive, the differences between both study arms failed to reach statistical significance. Unexpectedly parenting behaviour in the control group improved also (Z = −2.45; p ≤ .05. Anxiety as well as stress scores decreased in this group (Z = −2.02; p ≤ .05 and Z = −2.11; p ≤ .05. In both groups the initial metabolic control was good and without significant differences (A1c 7.2±0.8% vs. 7.1±0.4%; p > 0.5. It remained stable in the DELFIN group (A1c 7.1±0.8%; p > 0.5, but it increased slightly in controls (A1c 7.3±0.5%; Z = −2.79; p = .005. Conclusions This study has brought first evidence for the efficacy and feasibility of the program. A multicentre study with a larger sample is necessary to confirm these first results.

  12. Impaired insulin-induced site-specific phosphorylation of TBC1 domain family, member 4 (TBC1D4) in skeletal muscle of type 2 diabetes patients is restored by endurance exercise-training

    DEFF Research Database (Denmark)

    Vind, B. F.; Pehmøller, Christian; Treebak, Jonas Thue

    2011-01-01

    AIMS/HYPOTHESIS: Insulin-mediated glucose disposal rates (R (d)) are reduced in type 2 diabetic patients, a process in which intrinsic signalling defects are thought to be involved. Phosphorylation of TBC1 domain family, member 4 (TBC1D4) is at present the most distal insulin receptor signalling...... event linked to glucose transport. In this study, we examined insulin action on site-specific phosphorylation of TBC1D4 and the effect of exercise training on insulin action and signalling to TBC1D4 in skeletal muscle from type 2 diabetic patients. METHODS: During a 3 h euglycaemic-hyperinsulinaemic (80...... mU min(-1) m(-2)) clamp, we obtained M. vastus lateralis biopsies from 13 obese type 2 diabetic and 13 obese, non-diabetic control individuals before and after 10 weeks of endurance exercise-training. RESULTS: Before training, reductions in insulin-stimulated R (d), together with impaired insulin...

  13. A familial case of achondrogenesis type II caused by a dominant COL2A1 mutation and "patchy" expression in the mosaic father.

    Science.gov (United States)

    Forzano, F; Lituania, M; Viassolo, A; Superti-Furga, V; Wildhardt, G; Zabel, B; Faravelli, F

    2007-12-01

    Achondrogenesis type II (ACG2) is the most severe disorder that can be produced by dominant mutations in COL2A1. We report on four pregnancies of an apparently healthy, nonconsanguineous young couple. The father had scoliosis as a child, and has slight body disproportion with short trunk. The first child was born at 32 weeks and died neonatally. In the second pregnancy, short limbs and fetal hygroma were noted on ultrasound at 17 weeks' gestation. Similar findings were observed in the third fetus. Clinical, radiological, and histological evaluation of the fetuses after termination of the pregnancies showed findings consistent with ACG2. Molecular analysis of genomic DNA extracted from amniotic cells of the second and third fetuses revealed heterozygosity for a 10370G > T missense mutation (G346V) in the COL2A1 gene. This mutation was also found in the father, as a mosaic. The couple had a fourth pregnancy, and at 11 weeks fetal hydrops with a septated cystic hygroma were obvious. DNA from CVS demonstrated the same COL2A1 mutation. (c) 2007 Wiley-Liss, Inc.

  14. Policaptil Gel Retard significantly reduces body mass index and hyperinsulinism and may decrease the risk of type 2 diabetes mellitus (T2DM) in obese children and adolescents with family history of obesity and T2DM.

    Science.gov (United States)

    Stagi, Stefano; Lapi, Elisabetta; Seminara, Salvatore; Pelosi, Paola; Del Greco, Paolo; Capirchio, Laura; Strano, Massimo; Giglio, Sabrina; Chiarelli, Francesco; de Martino, Maurizio

    2015-02-15

    Treatments for childhood obesity are critically needed because of the risk of developing co-morbidities, although the interventions are frequently time-consuming, frustrating, difficult, and expensive. We conducted a longitudinal, randomised, clinical study, based on a per protocol analysis, on 133 obese children and adolescents (n = 69 males and 64 females; median age, 11.3 years) with family history of obesity and type 2 diabetes mellitus (T2DM). The patients were divided into three arms: Arm A (n = 53 patients), Arm B (n = 45 patients), and Arm C (n = 35 patients) patients were treated with a low-glycaemic-index (LGI) diet and Policaptil Gel Retard, only a LGI diet, or only an energy-restricted diet (ERD), respectively. The homeostasis model assessment of insulin resistance (HOMA-IR) and the Matsuda, insulinogenic and disposition indexes were calculated at T0 and after 1 year (T1). At T1, the BMI-SD scores were significantly reduced from 2.32 to 1.80 (p 1) in Arm A and from 2.23 to 1.99 (p 13.2% to 5.6%; p 1) and B (p 1) and B (p obese children and adolescents with family history of obesity and T2DM.

  15. Phenotype of Usher syndrome type II assosiated with compound missense mutations of c.721 C>T and c.1969 C>T in MYO7A in a Chinese Usher syndrome family.

    Science.gov (United States)

    Zhai, Wei; Jin, Xin; Gong, Yan; Qu, Ling-Hui; Zhao, Chen; Li, Zhao-Hui

    2015-01-01

    To identify the pathogenic mutations in a Chinese pedigree affected with Usher syndrome type II (USH2). The ophthalmic examinations and audiometric tests were performed to ascertain the phenotype of the family. To detect the genetic defect, exons of 103 known RDs -associated genes including 12 Usher syndrome (USH) genes of the proband were captured and sequencing analysis was performed to exclude known genetic defects and find potential pathogenic mutations. Subsequently, candidate mutations were validated in his pedigree and 100 normal controls using polymerase chain reaction (PCR) and Sanger sequencing. The patient in the family occurred hearing loss (HL) and retinitis pigmentosa (RP) without vestibular dysfunction, which were consistent with standards of classification for USH2. He carried the compound heterozygous mutations, c.721 C>T and c.1969 C>T, in the MYO7A gene and the unaffected members carried only one of the two mutations. The mutations were not present in the 100 normal controls. We suggested that the compound heterozygous mutations of the MYO7A could lead to USH2, which had revealed distinguished clinical phenotypes associated with MYO7A and expanded the spectrum of clinical phenotypes of the MYO7A mutations.

  16. Phenotype of Usher syndrome type II assosiated with compound missense mutations of c.721 C>T and c.1969 C>T in MYO7A in a Chinese Usher syndrome family

    Directory of Open Access Journals (Sweden)

    Wei Zhai

    2015-08-01

    Full Text Available AIM:To identify the pathogenic mutations in a Chinese pedigree affected with Usher syndrome type II (USH2.METHODS:The ophthalmic examinations and audiometric tests were performed to ascertain the phenotype of the family. To detect the genetic defect, exons of 103 known RDs -associated genes including 12 Usher syndrome (USH genes of the proband were captured and sequencing analysis was performed to exclude known genetic defects and find potential pathogenic mutations. Subsequently, candidate mutations were validated in his pedigree and 100 normal controls using polymerase chain reaction (PCR and Sanger sequencing.RESULTS:The patient in the family occurred hearing loss (HL and retinitis pigmentosa (RP without vestibular dysfunction, which were consistent with standards of classification for USH2. He carried the compound heterozygous mutations, c.721 C>T and c.1969 C>T, in the MYO7A gene and the unaffected members carried only one of the two mutations. The mutations were not present in the 100 normal controls.CONCLUSION:We suggested that the compound heterozygous mutations of the MYO7A could lead to USH2, which had revealed distinguished clinical phenotypes associated with MYO7A and expanded the spectrum of clinical phenotypes of the MYO7A mutations.

  17. Family matters

    DEFF Research Database (Denmark)

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

    2013-01-01

    brain injury participated. Family and brain injury characteristics were reported by the ill and healthy parents. Children self-reported post-traumatic stress symptoms (PSS) using the Child Impact of Events revised (CRIES). Emotional and behavioural problems among the children were also identified...... by the parents using the Achenbach’s Child Behaviour Checklist (CBCL). RESULTS: The family stress variables relating to the healthy spouse in all six comparisons were significant (p... scores for the children. For the adjusted associations, we again found the family stress variables in the healthy spouse to be related to the risk of emotional and behavioral problems in the children. CONCLUSIONS: The present results suggest that in ABI families, the children’s emotional functioning...

  18. Small Families

    Science.gov (United States)

    ... children of larger families. The financial costs of maintaining a household are lower. It is easier for ... separated from you, hindering the development of new relationships with peers. In fact, you may have that ...

  19. Familial hypercholesterolaemia

    African Journals Online (AJOL)

    Familial hypercholesterolaemia (FH) is a monogenic disorder of low-density lipoprotein (LDL) metabolism. It is characterised .... Figure 2: Cumulative prevalence of physical signs in adult FH patients at the. GSH Lipid .... microvascular trauma.

  20. Family Life

    Science.gov (United States)

    ... family members to do your laundry, walk the dog, or update others on your progress. You may ... parenting while living with cancer . The importance of communication As demonstrated above, good communication is important in ...

  1. Familial dysautonomia

    Science.gov (United States)

    ... condition. FD occurs most often in people of Eastern European Jewish ancestry (Ashkenazi Jews). It is caused ... also be used for prenatal diagnosis. People of Eastern European Jewish background and families with a history ...

  2. Iron Starvation Conditions Upregulate Ehrlichia ruminantium Type IV Secretion System, tr1 Transcription Factor and map1 Genes Family through the Master Regulatory Protein ErxR

    Directory of Open Access Journals (Sweden)

    Amal Moumène

    2018-01-01

    Full Text Available Ehrlichia ruminantium is an obligatory intracellular bacterium that causes heartwater, a fatal disease in ruminants. Due to its intracellular nature, E. ruminantium requires a set of specific virulence factors, such as the type IV secretion system (T4SS, and outer membrane proteins (Map proteins in order to avoid and subvert the host's immune response. Several studies have been conducted to understand the regulation of the T4SS or outer membrane proteins, in Ehrlichia, but no integrated approach has been used to understand the regulation of Ehrlichia pathogenicity determinants in response to environmental cues. Iron is known to be a key nutrient for bacterial growth both in the environment and within hosts. In this study, we experimentally demonstrated the regulation of virB, map1, and tr1 genes by the newly identified master regulator ErxR (for Ehrlichia ruminantium expression regulator. We also analyzed the effect of iron depletion on the expression of erxR gene, tr1 transcription factor, T4SS and map1 genes clusters in E. ruminantium. We show that exposure of E. ruminantium to iron starvation induces erxR and subsequently tr1, virB, and map1 genes. Our results reveal tight co-regulation of T4SS and map1 genes via the ErxR regulatory protein at the transcriptional level, and, for the first time link map genes to the virulence function sensu stricto, thereby advancing our understanding of Ehrlichia's infection process. These results suggest that Ehrlichia is able to sense changes in iron concentrations in the environment and to regulate the expression of virulence factors accordingly.

  3. Environmental T4-Family Bacteriophages Evolve to Escape Abortive Infection via Multiple Routes in a Bacterial Host Employing "Altruistic Suicide" through Type III Toxin-Antitoxin Systems.

    Science.gov (United States)

    Chen, Bihe; Akusobi, Chidiebere; Fang, Xinzhe; Salmond, George P C

    2017-01-01

    Abortive infection is an anti-phage mechanism employed by a bacterium to initiate its own death upon phage infection. This reduces, or eliminates, production of viral progeny and protects clonal siblings in the bacterial population by an act akin to an "altruistic suicide." Abortive infection can be mediated by a Type III toxin-antitoxin system called ToxIN Pa consisting of an endoribonuclease toxin and RNA antitoxin. ToxIN Pa is a heterohexameric quaternary complex in which pseudoknotted RNA inhibits the toxicity of the toxin until infection by certain phages causes destabilization of ToxIN Pa , leading to bacteriostasis and, eventually, lethality. However, it is still unknown why only certain phages are able to activate ToxIN Pa . To try to address this issue we first introduced ToxIN Pa into the Gram-negative enterobacterium, Serratia sp. ATCC 39006 ( S 39006) and then isolated new environmental S 39006 phages that were scored for activation of ToxIN Pa and abortive infection capacity. We isolated three T4-like phages from a sewage treatment outflow point into the River Cam, each phage being isolated at least a year apart. These phages were susceptible to ToxIN Pa -mediated abortive infection but produced spontaneous "escape" mutants that were insensitive to ToxIN Pa . Analysis of these resistant mutants revealed three different routes of escaping ToxIN Pa , namely by mutating asiA (the product of which is a phage transcriptional co-activator); by mutating a conserved, yet functionally unknown, orf84 ; or by deleting a 6.5-10 kb region of the phage genome. Analysis of these evolved escape mutants may help uncover the nature of the corresponding phage product(s) involved in activation of ToxIN Pa .

  4. An RNA-splicing mutation (G{sup +51VS20}) in the Type II collagen gene (COL2A1) in a family with spondyloepiphyseal dysplasia congenita

    Energy Technology Data Exchange (ETDEWEB)

    Tiller, G.E.; Polumbo, P.A. [Vanderbilt Univ. School of Medicine, Nashville, TN (United States); Weis, M.A.; Eyre, D.R. [Univ. of Washington, Seattle, WA (United States); Gruber, H.E.; Rimoin, D.L.; Cohn, D.H. [Cedars-Sinai Medical Center, Los Angeles, CA (United States)]|[Univ. of California School of Medicine, Los Angeles, CA (United States)

    1995-02-01

    Defects in type II collagen have been demonstrated in a phenotypic continuum of chondrodysplasias that includes achondrogenesis II, hypochondrogenesis, spondyloepiphyseal dysplasia congenita (SEDC), Kniest dysplasia, and Stickler syndrome. We have determined that cartilage from a terminated fetus with an inherited form of SEDC contained both normal {alpha}1(II) collagen chains and chains that lacked amino acids 256-273 of the triple-helical domain. PCR amplification of this region of COL2A1, from genomic DNA, yielded products of normal size, while amplification of cDNA yielded a normal sized species and a shorter fragment missing exon 20. Sequence analysis of genomic DNA from the fetus revealed a G{yields}T transversion at position +5 of intron 20; the affected father was also heterozygous for the mutation. Allele-specific PCR and heteroduplex analysis of a VNTR in COL2A1 independently confirmed the unaffected status of a fetus in a subsequent pregnancy. Thermodynamic calculations suggest that the mutation prevents normal splicing of exon 20 by interfering with binding of U{sub 1} small-nuclear RNA to pre-mRNA, thus leading to skipping of exon 20 in transcripts from the mutant allele. Electron micrographs of diseased cartilage showed intracellular inclusion bodies, which were stained by an antibody to {alpha}1(II) procollagen. Our findings support the hypothesis that {alpha}-chain length alterations that preserve the Gly-X-Y repeat motif of the triple helix result in partial intracellular retention of {alpha}1(II) procollagen and produce mild to moderate chondrodysplasia phenotypes. 50 refs., 6 figs., 1 tab.

  5. The complex becomes more complex: protein-protein interactions of SnRK1 with DUF581 family proteins provide a framework for cell- and stimulus type-specific SnRK1 signaling in plants

    Directory of Open Access Journals (Sweden)

    Madlen eNietzsche

    2014-02-01

    Full Text Available In plants, SNF1-related kinase (SnRK1 responds to the availability of carbohydrates as well as to environmental stresses by down-regulating ATP consuming biosynthetic processes, while stimulating energy-generating catabolic reactions through gene expression and post-transcriptional regulation. The functional SnRK1 complex is a heterotrimer where the catalytic alpha subunit associates with a regulatory beta subunit and an activating gamma subunit. Several different metabolites as well as the hormone abscisic acid (ABA have been shown to modulate SnRK1 activity in a cell- and stimulus-type specific manner. It has been proposed that tissue- or stimulus-specific expression of adapter proteins mediating SnRK1 regulation can at least partly explain the differences observed in SnRK1 signaling. By using yeast two-hybrid and in planta bi-molecular fluorescence complementation assays we were able to demonstrate that proteins containing the domain of unknown function (DUF 581 could interact with both isoforms of the SnRK1 alpha subunit (AKIN10/11 of Arabidopsis. A structure/function analysis suggests that the DUF581 is a generic SnRK1 interaction module and co-expression with DUF581 proteins in plant cells leads to reallocation of the kinase to specific regions within the nucleus. Yeast two-hybrid analyses suggest that SnRK1 and DUF581 proteins can share common interaction partners inside the nucleus. The analysis of available microarray data implies that expression of the 19 members of the DUF581 encoding gene family in Arabidopsis is differentially regulated by hormones and environmental cues, indicating specialized functions of individual family members. We hypothesize that DUF581 proteins could act as mediators conferring tissue- and stimulus-type specific differences in SnRK1 regulation.

  6. Family with sequence similarity 83, member B is a predictor of poor prognosis and a potential therapeutic target for lung adenocarcinoma expressing wild-type epidermal growth factor receptor.

    Science.gov (United States)

    Yamaura, Takumi; Ezaki, Junji; Okabe, Naoyuki; Takagi, Hironori; Ozaki, Yuki; Inoue, Takuya; Watanabe, Yuzuru; Fukuhara, Mitsuro; Muto, Satoshi; Matsumura, Yuki; Hasegawa, Takeo; Hoshino, Mika; Osugi, Jun; Shio, Yutaka; Waguri, Satoshi; Tamura, Hirosumi; Imai, Jun-Ichi; Ito, Emi; Yanagisawa, Yuka; Honma, Reiko; Watanabe, Shinya; Suzuki, Hiroyuki

    2018-02-01

    Lung adenocarcinoma (ADC) patients with tumors that harbor no targetable driver gene mutation, such as epidermal growth factor receptor ( EGFR ) gene mutations, have unfavorable prognosis, and thus, novel therapeutic targets are required. Family with sequence similarity 83, member B ( FAM83B ) is a biomarker for squamous cell lung cancer. FAM83B has also recently been shown to serve an important role in the EGFR signaling pathway. In the present study, the molecular and clinical impact of FAM83B in lung ADC was investigated. Matched tumor and adjacent normal tissue samples were obtained from 216 patients who underwent complete lung resection for primary lung ADC and were examined for FAM83B expression using cDNA microarray analysis. The associations between FAM83B expression and clinicopathological parameters, including patient survival, were examined. FAM83B was highly expressed in tumors from males, smokers and in tumors with wild-type EGFR . Multivariate analyses further confirmed that wild-type EGFR tumors were significantly positively associated with FAM83B expression. In survival analysis, FAM83B expression was associated with poor outcomes in disease-free survival and overall survival, particularly when stratified against tumors with wild-type EGFR . Furthermore, FAM83B knockdown was performed to investigate its phenotypic effect on lung ADC cell lines. Gene silencing by FAM83B RNA interference induced growth suppression in the HLC-1 and H1975 lung ADC cell lines. FAM83B may be involved in lung ADC tumor proliferation and can be a predictor of poor survival. FAM83B is also a potential novel therapeutic target for ADC with wild-type EGFR .

  7. 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

  8. Psychosocial Adjustment and Family Relationships: A Typology of Italian Families with a Late Adolescent.

    Science.gov (United States)

    Scabini, Eugenia; Lanz, Margherita; Marta, Elena

    1999-01-01

    Derived a typology of family relationships for 692 Italian families with at least 1 late adolescent child and studied differences between the 2 extreme types (out of 8 identified) in terms of family satisfaction and adequate functioning. Results show a better communication process in the more satisfied families. (SLD)

  9. The types of Palaearctic species of the families Apionidae, Rhynchitidae, Attelabidae and Curculionidae in the collection of Étienne Louis Geoffroy (Coleoptera, Curculionoidea

    Directory of Open Access Journals (Sweden)

    Alonso-Zarazaga, M. A.

    2008-06-01

    >Curculio nigrostriatus Goeze, 1777 = Curculio floriger Geoffroy, 1785, nom. oblitum = Curculio subglobosus Gmelin, 1790, nom. oblitum; Anisorhynchus scabrosus (Geoffroy, 1785 = Curculio barbatus Rossi, 1794; Hylobius abietis (Linnaeus, 1758 = Curculio tigris Gmelin, 1790; Sitophilus granarius (Linnaeus, 1758 = Curculio contractus Geoffroy, 1785; Phyllobius pomaceus Gyllenhal, 1834 = Curculio auratus Geoffroy, 1785; Hylobius transversovittatus (Goeze, 1777 = Curculio fascialis Gmelin, 1790. New combinations are: Leucophyes occidentalis (Dieckmann, 1982 (from Leucosomus and Anisorhynchus scabrosus (Geoffroy, 1785 (from Curculio. The following names have been reinstated (stat. res. as valid: Trachyphloeus spinosus (Goeze, 1777 for the species known as Trachyphloeus olivieri Bedel, 1883, Lixus pulverulentus (Scopoli, 1763 for the species known as Lixus angustatus (Fabricius, 1775. Hypera melancholica (Fabricius, 1793 is confirmed as the valid name for the species hitherto named Hypera fuscocinerea (Marsham, 1802 or Hypera murina (Fabricius, 1793. The following names are considered nomina dubia, since there is no identifiable type material: Curculio pulex Goeze, 1777, Rhinomacer minutus Geoffroy, 1785, Curculio pulex Gmelin, 1790 (non Goeze, 1777, Rhinomacer striatusi> Geoffroy, 1785, Rhinomacer fulgidusi> Geoffroy, 1785, Curculio transversofasciatus Goeze, 1777, Curculio fasciatus Geoffroy, 1785 (non Scopoli, 1763, nec Ström, 1768, nec Degeer, 1775, nec Mu.ller, 1776, Curculio fuscatus Gmelin, 1790, Curculio sulcatus Goeze, 1777: 410 (non Fabricius, 1775, nec Goeze, 1777: 381, Curculio incisus Geoffroy, 1785, Curculio exaratus Gmelin, 1790, Curculio quadratus Goeze, 1777, Curculio quadrilis Geoffroy, 1785, Curculio griseosericeus Goeze, 1777,

  10. Familial macrocephaly

    International Nuclear Information System (INIS)

    Tatsuno, Masaru; Hayashi, Michiko; Iwamoto, Hiroko

    1984-01-01

    We reported 63 macrocephalic children with special emphasis on 16 cases with familial macrocephaly. Of the 16 children with familial macrocephaly, 13 were boys. Foureen parents (13 fathers and 1 mother) had head sizes above 98th percentile. Three of 5 brothers and 5 of 8 sisters also had large heads. The head circumference at birth was known for 14 of the children and it was above the 98th percentile in 7 patients. Subsequent evaluations have shown the head size of these children to be following a normal growth curve. Some of the children were hypotonic as infants, but their development was generally normal. CT scans usually clearly distinguished these children from those with hydorocephalus. The familial macrocephalic children had ventricular measurements which were within the normal range, but absolute measurements of the ventricular size may be misleading, because the CT appearance was of mildly dilated ventricles in half of them. (author)

  11. Family Structure and Family Processes in Mexican American Families

    OpenAIRE

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

    2011-01-01

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

  12. Super families

    International Nuclear Information System (INIS)

    Amato, N.; Maldonado, R.H.C.

    1989-01-01

    The study on phenomena in the super high energy region, Σ E j > 1000 TeV revealed events that present a big dark spot in central region with high concentration of energy and particles, called halo. Six super families with halo were analysed by Brazil-Japan Cooperation of Cosmic Rays. For each family the lateral distribution of energy density was constructed and R c Σ E (R c ) was estimated. For studying primary composition, the energy correlation with particles released separately in hadrons and gamma rays was analysed. (M.C.K.)

  13. Suggestive evidence for association between L-type voltage-gated calcium channel (CACNA1C) gene haplotypes and bipolar disorder in Latinos: a family-based association study

    Science.gov (United States)

    Gonzalez, Suzanne; Xu, Chun; Ramirez, Mercedes; Zavala, Juan; Armas, Regina; Contreras, Salvador A; Contreras, Javier; Dassori, Albana; Leach, Robin J; Flores, Deborah; Jerez, Alvaro; Raventós, Henriette; Ontiveros, Alfonso; Nicolini, Humberto; Escamilla, Michael

    2013-01-01

    Objectives Through recent genome-wide association studies (GWAS), several groups have reported significant association between variants in the alpha 1C subunit of the L-type voltage-gated calcium channel (CACNA1C) and bipolar disorder (BP) in European and European-American cohorts. We performed a family-based association study to determine whether CACNA1C is associated with BP in the Latino population. Methods This study consisted of 913 individuals from 215 Latino pedigrees recruited from the United States, Mexico, Guatemala, and Costa Rica. The Illumina GoldenGate Genotyping Assay was used to genotype 58 single-nucleotide polymorphisms (SNPs) that spanned a 602.9 kb region encompassing the CACNA1C gene including two SNPs (rs7297582 and rs1006737) previously shown to associate with BP. Individual SNP and haplotype association analyses were performed using Family-Based Association Test (version 2.0.3) and Haploview (version 4.2) software. Results An eight-locus haplotype block that included these two markers showed significant association with BP (global marker permuted p = 0.0018) in the Latino population. For individual SNPs, this sample had insufficient power (10%) to detect associations with SNPs with minor effect (odds ratio = 1.15). Conclusions Although we were not able to replicate findings of association between individual CACNA1C SNPs rs7297582 and rs1006737 and BP, we were able to replicate the GWAS signal reported for CACNA1C through a haplotype analysis that encompassed these previously reported significant SNPs. These results provide additional evidence that CACNA1C is associated with BP and provides the first evidence that variations in this gene might play a role in the pathogenesis of this disorder in the Latino population. PMID:23437964

  14. Type Systems for Bigraphs

    DEFF Research Database (Denmark)

    Elsborg, Ebbe; Hildebrandt, Thomas; Sangiorgi, Davide

    of controls and a set of reaction rules, collectively a bigraphical reactive system (BRS). Possible advantages of developing bigraphical type systems include: a deeper understanding of a type system itself and its properties; transfer of the type systems to the concrete family of calculi that the BRS models...

  15. Mixed Bartter-Gitelman syndrome: an inbred family with a heterogeneous phenotype expression of a novel variant in the CLCNKB gene.

    Science.gov (United States)

    Al-Shibli, Amar; Yusuf, Madinah; Abounajab, Issam; Willems, Patrick J

    2014-01-01

    Patients with renal diseases associated with salt-losing tubulopathies categorized as Gitelman and classic form of Bartter syndrome have undergone genetic screening for possible mutation capture in two different genes: SLC12A3 and CLCNKB. Clinical symptoms of these two diseases may overlap. Bartter syndrome and Gitelman syndrome are autosomal recessive salt-losing tubulopathies with hypokalemia, metabolic alkalosis, hyperreninemia, hyperplasia of the juxtaglomerular apparatus, hyperaldosteronism, and, in some patients, hypomagnesemia. Here we describe four patients from an inbred family with a novel missense variant in the CLCNKB gene. All of patients are asymptomatic; yet they have the typical metabolic abnormality of salt losing tubulopathies. One of those patients had hypomagnesaemia while others not. Clinical and laboratory data of all patients was described. All 4 patients have a homozygous c.490G > T missense variant in exon 5 of the CLCNKB gene. This variant alters a glycine into a cysteine on amino acid position 164 of the resulting protein (p.Gly164Cys). The c.490G > T variant is a novel variant not previously described in other patients nor controls. Polyphen analysis predicts the variation to be possibly damaging. Analysis of SLC12A3 was normal. Here in we are describing a novel homozygous c.490G > T missense variation was identified in exon 5 of the CLCNKB gene was identified in an Emirati patients with a mild manifestation of Bartter - Gitelman syndrome.

  16. 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.…

  17. Family Violence.

    Science.gov (United States)

    Emery, Robert E.

    1989-01-01

    Researchers and policymakers have begun to recognize the extent and severity of family violence, particularly its effects on children. But there is much disagreement about the definition of violence, its development, the consequences for victims, and the most effective avenues for intervention. Advances recommendations for further research.…

  18. Family arizing

    NARCIS (Netherlands)

    Croes, M.J.G.; Feijs, L.M.G.; Chen, L.; Djajadingrat, T.; Feijs, L.M.G.; Hu, J.; Kufin, S.H.M.; Rampino, L.; Rodriguez, E.; Steffen, D.

    2015-01-01

    In this demo we show the two main components of the Family Arizing system which allows parents to stay in contact with their child and, in cases of distress, provide the child with a remote comforting hug. The two components to be shown are the active necklace and the active snuggle.

  19. FAMILY ASILIDAE.

    Science.gov (United States)

    Wolff, Marta; Lamas, Carlos José Einicker

    2016-06-14

    Asilidae is one of the largest Diptera families with more than 7,000 recognized species worldwide. All their species are predators on arthropods, mainly insects. This catalogue presents 71 species distributed in 26 genera, ten tribes or generic groups and four subfamilies. For each species we present the available geographical information and relevant references.

  20. 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)

  1. Familial hypercholesterolaemia

    DEFF Research Database (Denmark)

    Versmissen, Jorie; Vongpromek, Ranitha; Yahya, Reyhana

    2016-01-01

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

  2. The Family Contexts of Children's Sibling Relationships.

    Science.gov (United States)

    McHale, Susan M.; Crouter, Ann C.

    1996-01-01

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

  3. The Stigma of Families with Mental Illness

    Science.gov (United States)

    Larson, Jon E.; Corrigan, Patrick

    2008-01-01

    Objective: This article describes family stigma, which is defined as the prejudice and discrimination experienced by individuals through associations with their relatives. Methods: The authors describe family stigma and present current research related to mental illness stigma experienced by family members. Research indicates this type of stigma…

  4. Formal demography of families and households

    NARCIS (Netherlands)

    Willekens, F.J.; van Imhoff, E.; Wright, James D.

    2015-01-01

    Family and household demography’ differs from traditional demography in that it explicitly recognizes and studies relationships between individuals. Formal demography focuses on the definition and measurement of families and households, and modeling of types, number, and composition of families and

  5. [Family violence].

    Science.gov (United States)

    Manoudi, F; Chagh, R; Es-soussi, M; Asri, F; Tazi, I

    2013-09-01

    Family violence is a serious public health problem, the scale of which is seriously increasing in Morocco. Although it has existed for a long time, we ignore the real characteristics of this plague in our country; our work consisted in an epidemiological approach of family violence in Marrakech during 2006. After elaborating a questionnaire, which allows the study of the demographic and social profile of the families, the study of violence exercised in the family and the evaluation of the depression in the women, we led an inquiry amongst 265 women. Analysis of the results obtained has allowed us to underline the following characteristics: 16.6% of the women in our sample had been physically beaten; the young age is a risk factor; the age range most affected by violence is in women between the ages of 30 and 40 and which represent 39% of the battered women; domestic violence touches all the social, economic and cultural classes: in our study, 63% of the women having undergone violence were housewives, 25% were managers and 3% senior executives; family problems were the most important cause of violence in our study, representing 32.32%. Requests for money was the cause in 11.3% of the cases, and imposed sexual relations were found in 6.8% of the cases; alcoholism is an aggravating factor of family violence; 27.3% of the spouses who assaulted their wives were drunk; 52% of the assaulted women were victims of violence in childhood and 36% had been witness to their father's violence; in 63.6% of the cases of violence, the children were witnesses, and in 25% of the cases the children were victims of violence at the same time as their mothers; 50% of the women victims of violence did not react, while 38.6% left home, and 9.1 filed for divorce. Thirty-two percent of the assaulted woman had been traumatised by the aggression; the association of depression and violence was very high, 343% of the battered women in our study suffered from severe depression. This work

  6. FAMILY BOMBYLIIDAE.

    Science.gov (United States)

    Lamas, Carlos José Einicker; Evenhuis, Neal L

    2016-06-14

    Bombyliidae is one of the largest Diptera families with more than 4,500 recognized species worldwide. Their species vary from robust to thin, and may be small to large (2-20mm) and looks like bees or wasps. They also present great variation in color. Adults can often be seen either resting and sunning themselves on trails, rocks or twigs or feeding on flowering plants as they are nectar feeders. All reared bee flies are predators or parasitoids of arthropods. The Colombian fauna of bombyliids comprises at the moment 22 species, and 12 genera, of which, six are endemic species. Nonetheless, this number may be much higher, as Colombia is a megadiverse country and there are not many specimens of this family deposited in collections all over the world.

  7. Cucumis sativus L-type lectin receptor kinase (CsLecRK) gene family response to Phytophthora melonis, Phytophthora capsici and water immersion in disease resistant and susceptible cucumber cultivars.

    Science.gov (United States)

    Wu, Tingquan; Wang, Rui; Xu, Xiaomei; He, Xiaoming; Sun, Baojuan; Zhong, Yujuan; Liang, Zhaojuan; Luo, Shaobo; Lin, Yu'e

    2014-10-10

    L-type lectin receptor kinase (LecRK) proteins are an important family involved in diverse biological processes such as pollen development, senescence, wounding, salinity and especially in innate immunity in model plants such as Arabidopsis and tobacco. Till date, LecRK proteins or genes of cucumber have not been reported. In this study, a total of 25 LecRK genes were identified in the cucumber genome, unequally distributed across its seven chromosomes. According to similarity comparison of their encoded proteins, the Cucumis sativus LecRK (CsLecRK) genes were classified into six major clades (from Clade I to CladeVI). Expression of CsLecRK genes were tested using QRT-PCR method and the results showed that 25 CsLecRK genes exhibited different responses to abiotic (water immersion) and biotic (Phytophthora melonis and Phytophthora capsici inoculation) stresses, as well as that between disease resistant cultivar (JSH) and disease susceptible cultivar (B80). Among the 25 CsLecRK genes, we found CsLecRK6.1 was especially induced by P. melonis and P. capsici in JSH plants. All these results suggested that CsLecRK genes may play important roles in biotic and abiotic stresses. Copyright © 2014 Elsevier B.V. All rights reserved.

  8. Histomorphometric Parameters of the Growth Plate and Trabecular Bone in Wild-Type and Trefoil Factor Family 3 (Tff3)-Deficient Mice Analyzed by Free and Open-Source Image Processing Software.

    Science.gov (United States)

    Bijelić, Nikola; Belovari, Tatjana; Stolnik, Dunja; Lovrić, Ivana; Baus Lončar, Mirela

    2017-08-01

    Trefoil factor family 3 (Tff3) peptide is present during intrauterine endochondral ossification in mice, and its deficiency affects cancellous bone quality in secondary ossification centers of mouse tibiae. The aim of this study was to quantitatively analyze parameters describing the growth plate and primary ossification centers in tibiae of 1-month-old wild-type and Tff3 knock-out mice (n=5 per genotype) by using free and open-source software. Digital photographs of the growth plates and trabecular bone were processed by open-source computer programs GIMP and FIJI. Histomorphometric parameters were calculated using measurements made with FIJI. Tff3 knock-out mice had significantly smaller trabecular number and significantly larger trabecular separation. Trabecular bone volume, trabecular bone surface, and trabecular thickness showed no significant difference between the two groups. Although such histomorphological differences were found in the cancellous bone structure, no significant differences were found in the epiphyseal plate histomorphology. Tff3 peptide probably has an effect on the formation and quality of the cancellous bone in the primary ossification centers, but not through disrupting the epiphyseal plate morphology. This work emphasizes the benefits of using free and open-source programs for morphological studies in life sciences.

  9. Policy implications for familial searching.

    Science.gov (United States)

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

    2011-11-01

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

  10. Waardenburg syndrome and myelomeningocele in a family.

    Science.gov (United States)

    Chatkupt, S; Chatkupt, S; Johnson, W G

    1993-01-01

    We report the first family with Waardenburg syndrome type 1 and myelomeningocele in which more than one subject was affected with both disorders. The possible association is discussed. Prenatal screening for myelomeningocele is suggested for a family with Waardenburg syndrome type 1. Images PMID:8423616

  11. Waardenburg syndrome and myelomeningocele in a family.

    OpenAIRE

    Chatkupt, S; Chatkupt, S; Johnson, W G

    1993-01-01

    We report the first family with Waardenburg syndrome type 1 and myelomeningocele in which more than one subject was affected with both disorders. The possible association is discussed. Prenatal screening for myelomeningocele is suggested for a family with Waardenburg syndrome type 1.

  12. Family roles as family functioning regulators

    OpenAIRE

    STEPANYAN ARMINE

    2015-01-01

    The author examines the problems of formation and functioning of family roles. Having social roots, family roles appear on individual level by performing the social function of the formation of family as a social institute.

  13. 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...

  14. Policy implications for familial searching

    OpenAIRE

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

    2011-01-01

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

  15. An N-terminal Retention Module Anchors the Giant Adhesin LapA of Pseudomonas fluorescens at the Cell Surface: A Novel Sub-family of Type I Secretion Systems.

    Science.gov (United States)

    Smith, T Jarrod; Font, Maria E; Kelly, Carolyn M; Sondermann, Holger; O'Toole, George A

    2018-02-05

    LapA of Pseudomonas fluorescens Pf0-1 belongs to a diverse family of cell surface associated bacterial adhesins that are secreted via the type-1 secretion system (T1SS). We previously reported that the periplasmic protease LapG cleaves the N-terminus of LapA at a canonical dialanine motif to release the adhesin from the cell surface under conditions unfavorable to biofilm formation, thus decreasing biofilm formation. Here, we characterize LapA as the first type 1 secreted substrate that does not follow the "one-step" rule of T1SS. Rather, a novel N-terminal element, called the retention module (RM), localizes LapA at the cell surface as a secretion intermediate. Our genetic, biochemical, and molecular modeling analysis support a model wherein LapA is tethered to the cell surface through its T1SS outer membrane TolC-like pore, LapE, until LapG cleaves LapA in the periplasm. We further demonstrate this unusual retention strategy is likely conserved among LapA-like proteins, and reveals a new subclass of T1SS ABC transporters involved in transporting this group of surface-associated, LapA-like adhesins. These studies demonstrate a novel cell surface retention strategy used throughout the Proteobacteria and highlight a previously unappreciated flexibility of function for T1SS. Importance. Bacteria have evolved multiple secretion strategies to interact with their environment. For many bacteria, the secretion of cell surface associated adhesins is key for initiating contact with a preferred substratum to facilitate biofilm formation. Our work demonstrates that P. fluorescens uses a previously unrecognized secretion strategy to retain the giant adhesin LapA at its cell surface. Further, we identify likely LapA-like adhesins in various pathogenic and commensal Proteobacteria and provide phylogenetic evidence that these adhesins are secreted by a new subclass of T1SS ABC transporters. Copyright © 2018 American Society for Microbiology.

  16. High-sensitivity C-reactive protein does not improve the differential diagnosis of HNF1A-MODY and familial young-onset type 2 diabetes: A grey zone analysis.

    Science.gov (United States)

    Bellanné-Chantelot, C; Coste, J; Ciangura, C; Fonfrède, M; Saint-Martin, C; Bouché, C; Sonnet, E; Valéro, R; Lévy, D-J; Dubois-Laforgue, D; Timsit, J

    2016-02-01

    Low plasma levels of high-sensitivity C-reactive protein (hs-CRP) have been suggested to differentiate hepatocyte nuclear factor 1 alpha-maturity-onset diabetes of the young (HNF1A-MODY) from type 2 diabetes (T2D). Yet, differential diagnosis of HNF1A-MODY and familial young-onset type 2 diabetes (F-YT2D) remains a difficult challenge. Thus, this study assessed the added value of hs-CRP to distinguish between the two conditions. This prospective multicentre study included 143 HNF1A-MODY patients, 310 patients with a clinical history suggestive of HNF1A-MODY, but not confirmed genetically (F-YT2D), and 215 patients with T2D. The ability of models, including clinical characteristics and hs-CRP to predict HNF1A-MODY was analyzed, using the area of the receiver operating characteristic (AUROC) curve, and a grey zone approach was used to evaluate these models in clinical practice. Median hs-CRP values were lower in HNF1A-MODY (0.25mg/L) than in F-YT2D (1.14mg/L) and T2D (1.70mg/L) patients. Clinical parameters were sufficient to differentiate HNF1A-MODY from classical T2D (AUROC: 0.99). AUROC analyses to distinguish HNF1A-MODY from F-YT2D were 0.82 for clinical features and 0.87 after including hs-CRP. For the grey zone analysis, the lower boundary was set to missMODY with F-YT2D, 65% of patients were classified in between these categories - in the zone of diagnostic uncertainty - even after adding hs-CRP to clinical parameters. hs-CRP does not improve the differential diagnosis of HNF1A-MODY and F-YT2D. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  17. Roles within the Family

    Science.gov (United States)

    ... Spread the Word Shop AAP Find a Pediatrician Family Life Medical Home Family Dynamics Adoption & Foster Care ... Text Size Email Print Share Roles Within the Family Page Content Article Body Families are not democracies. ...

  18. Familism, Family Environment, and Suicide Attempts among Latina Youth

    OpenAIRE

    Peña, Juan B.; Kuhlberg, Jill A.; Zayas, Luis H.; Baumann, Ana A.; Gulbas, Lauren; Hausmann-Stabile, Carolina; Nolle, Allyson P.

    2011-01-01

    This study examined the relationship between familism and family environment type as well as the relationship between family environment type and suicide attempts among Latina youth. Latina teen attempters (n=109) and non-attempters (n=107) were recruited from the NYC area. Latent class analysis revealed three family environment types: tight-knit; intermediate-knit; and loose-knit. Tight-knit families (high cohesion and low conflict) were significantly less likely to have teens that attempted...

  19. Family pediatrics: report of the Task Force on the Family.

    Science.gov (United States)

    Schor, Edward L

    2003-06-01

    help guide the development of public policy and recommend how to assist pediatricians to promote well-functioning families (see Appendix). The magnitude of the assigned work required task force members to learn a great deal from research and researchers in the fields of social and behavioral sciences. A review of some critical literature was completed by a consultant to the task force and accompanies this report. That review identified a convergence of pediatrics and research on families by other disciplines. The task force found that a great deal is known about family functioning and family circumstances that affect children. With this knowledge, it is possible to provide pediatric care in a way that promotes successful families and good outcomes for children. The task force refers to that type of care as "family-oriented care" or "family pediatrics" and strongly endorses policies and practices that promote the adoption of this 2-generational approach as a hallmark of pediatrics. During the past decade, family advocates have successfully promoted family-centered care, "the philosophies, principles and practices that put the family at the heart or center of services; the family as the driving force." Most pediatricians report that they involve families in the decision making regarding the health care of their child and make an effort to understand the needs of the family as well as the child. Family pediatrics, like family-centered care, requires an active, productive partnership between the pediatrician and the family. But family pediatrics extends the responsibilities of the pediatrician to include screening, assessment, and referral of parents for physical, emotional, or social problems or health risk behaviors that can adversely affect the health and emotional or social well-being of their child. FAMILY CONTEXT OF CHILD HEALTH: The power and importance of families to children arises out of the extended duration for which children are dependent on adults to meet

  20. Family Conflict and Children's Self-Concepts: A Comparison of Intact and Single-Parent Families.

    Science.gov (United States)

    Raschke, Helen J.; Raschke, Vernon J.

    1979-01-01

    Using the Piers-Harris Children's Self-Concept Scale to measure self-concept, and self-reports for family structure and family conflict, no significant differences in self-concept scores of children from intact, single-parent, reconstituted, or other types of families were found. Self-concept scores were significantly lower for children reporting…

  1. Talking (or Not) about Family Health History in Families of Latino Young Adults

    Science.gov (United States)

    Corona, Rosalie; Rodríguez, Vivian; Quillin, John; Gyure, Maria; Bodurtha, Joann

    2013-01-01

    Although individuals recognize the importance of knowing their family's health history for their own health, relatively few people (e.g., less than a third in one national survey) collect this type of information. This study examines the rates of family communication about family health history of cancer, and predictors of communication in a…

  2. Family Psychology and Family Therapy in Japan.

    Science.gov (United States)

    Kameguchi, Kenji; Murphy-Shigematsu, Stephen

    2001-01-01

    Reviews the development of family psychology and family therapy in Japan, tracing the origins of these movements, explaining how these fields were activated by the problem of school refusal, and describing an approach to family therapy that has been developed to work with families confronting this problem, as well as preventive programs of family…

  3. Strengthening Family Practices for Latino Families.

    Science.gov (United States)

    Chartier, Karen G; Negroni, Lirio K; Hesselbrock, Michie N

    2010-01-01

    The study examined the effectiveness of a culturally-adapted Strengthening Families Program (SFP) for Latinos to reduce risks for alcohol and drug use in children. Latino families, predominantly Puerto Rican, with a 9-12 year old child and a parent(s) with a substance abuse problem participated in the study. Pre- and post-tests were conducted with each family. Parental stress, parent-child dysfunctional relations, and child behavior problems were reduced in the families receiving the intervention; family hardiness and family attachment were improved. Findings contribute to the validation of the SFP with Latinos, and can be used to inform social work practice with Puerto Rican families.

  4. Limits for expansion of borders of family and marriage

    Directory of Open Access Journals (Sweden)

    A. B. Sinelnikov

    2015-01-01

    Full Text Available The basic (standard type of family - a married couple with children. Only such families can ensure the survival of the population. Peripheral types of families (childless couples, one parent families are incomplete set of family links, roles and functions. But it’s still a family which can become standard, if childless spouses born children or a single mother get married. Same-sex couples can’t go through this transition and to perform all the functions of the family. This is a new phenomenon that requires a new name that is different from the words of the “marriage” and “family”.

  5. Familial Investigations of Childhood Cancer Predisposition

    Science.gov (United States)

    2018-01-03

    Acute Leukemia; Adenomatous Polyposis; Adrenocortical Carcinoma; AML; BAP1 Tumor Predisposition Syndrome; Carney Complex; Choroid Plexus Carcinoma; Constitutional Mismatch Repair Deficiency Syndrome; Diamond-Blackfan Anemia; DICER1 Syndrome; Dyskeratosis Congenita; Emberger Syndrome; Familial Acute Myeloid Leukemia; Familial Adenomatous Polyposis; Fanconi Anemia; Familial Cancer; Familial Wilms Tumor; Familial Neuroblastoma; GIST; Hereditary Breast and Ovarian Cancer; Hereditary Paraganglioma-Pheochromocytoma Syndrome; Hodgkin Lymphoma; Juvenile Polyposis; Li-Fraumeni Syndrome; Lynch Syndrome; MDS; Melanoma Syndrome; Multiple Endocrine Neoplasia Type 1; Multiple Endocrine Neoplasia Type 2; Neuroblastoma; Neurofibromatosis Type 1; Neurofibromatosis Type II; Nevoid Basal Cell Carcinoma Syndrome; Non Hodgkin Lymphoma; Noonan Syndrome and Other Rasopathy; Overgrowth Syndromes; Pancreatic Cancer; Peutz-Jeghers Syndrome; Pheochromocytoma/Paraganglioma; PTEN Hamartoma Tumor Syndrome; Retinoblastoma; Rhabdoid Tumor Predisposition Syndrome; Rhabdomyosarcoma; Rothmund-Thomson Syndrome; Tuberous Sclerosis; Von Hippel-Lindau Disease

  6. Clinical and molecular characteristics of a Brazilian family with spinocerebellar ataxia type 1 Características clínicas e moleculares de uma família Brasileira com ataxia espinocerebelar tipo 1

    Directory of Open Access Journals (Sweden)

    Iscia Lopes-Cendes

    1996-09-01

    Full Text Available The spinocerebellar ataxias (SCAs are a clinically and genetically heterogeneous group of late onset neurodegenerative disorders. To date, seven different genes causing autosomal dominant SCA have been mapped: SCA1, SCA2, Machado-Joseph disease (MJD/SCA3, SCA4, SCA5, SCA7 and dentatorubropallidoluysian atrophy (DRPLA. Expansions of an unstable trinucleotide CAG repeat cause three of these disorders: SCA1, MJD/SCA3 and DRPLA. We studied one Brazilian family segregating an autosomal dominant type of SCA. A total of ten individuals were examined and tested for the presence of the SCA1, MJD and DRPLA mutations. Three individuals, one male and two females, were considered affected based on neurological examination; ages at onset were: 32, 36 and 41 years. The first complaint in all three patients was gait ataxia which progressed slowly over the years. Six individuals showed one allele containing an expanded CAG repeat in the SCA1 gene. The mean size of the expanded allele was 48.2 CAG units. Instability of the expanded CAG tract was seen in the two transmissions that were observed in this family. In both occasions there was a contraction of the CAG tract. Our study demonstrates that SCA1 occurs in the Brazilian population. In addition, our results stress the importance of molecular studies in the confirmation of diagnosis and for pre-symptomatic testing in SCAs.As ataxias espinocerebelares (AECs fazem parte de um grupo de doenças neurodegenerativas que apresentam grande heterogeneidade clínica e genética. Existem até o momento sete genes mapeados responsáveis pelas AECs de transmissão autossômica dominante: SCA1, SCA2, doença de Machado-Joseph (DA/7 ou SCA3, SCA4, SCA5, SCA7 e atrofia dentatorubropalidoluisiana (ADRPL. Uma expansão de um trínucletídeo CAG foi identificada como a mutação responsável na SCA], DMJ e ADRPL. Estudamos uma família brasileira com uma forma autossômica dominante de AEC. Dez indivíduos foram examinados e

  7. Family Matters

    Directory of Open Access Journals (Sweden)

    Isabel de Riquer

    2011-04-01

    Full Text Available The scene is at the court of James I of Aragon in the mid-13th c., the place is the royal palace of Barcelona or any of the crown's other possessions, and the dramatis personae include the heir to the throne, prince Peire (future king Peire the Great, and the court's most famous troubadour, Cerverí de Girona (fl. 1259-85. Author of the largest corpus of any Occitan troubadour (114 poems, Cerverì distinguishes himself by the surprises and challenges he presents to his audience: an alba (the most openly erotic genre to the Virgin Mary, the Cobla in sis lengatges (Cobla in Six Languages, the apparently nonsensical Vers estrayn. Cerverì borrows equally from the folk-inspired Galician-Portuguese poetry and from the French tradition, including the chanson de malmariée, where a young woman bemoans being sold off by her family to an old man (gilos, "Jealous" and separated from her youthful doulz amis, some even praying for the death of their husband. Both within that tradition and among Cerverì's three chansons de malmariée, the Gelosesca stands out as "especially determined" to lose her husband, using every "solution" (prayer, black magic, potion or experimenta.

  8. Family Functioning and Adolescent Help-Seeking Behavior.

    Science.gov (United States)

    Fallon, Barry J.; Bowles, Terry V. P.

    2001-01-01

    Examined relationship between help seeking behavior and family functioning. Adolescents who sought help clustered into two groups of families - one high in conflict and low in democratic parenting style, and one low in conflict and high in democratic parenting style. Complex relationships between help seeking behavior, type of family, and type of…

  9. The netrin protein family.

    Science.gov (United States)

    Rajasekharan, Sathyanath; Kennedy, Timothy E

    2009-01-01

    The name netrin is derived from the Sanskrit Netr, meaning 'guide'. Netrins are a family of extracellular proteins that direct cell and axon migration during embryogenesis. Three secreted netrins (netrins 1, 3 and 4), and two glycosylphosphatidylinositol (GPI)-anchored membrane proteins, netrins G1 and G2, have been identified in mammals. The secreted netrins are bifunctional, acting as attractants for some cell types and repellents for others. Receptors for the secreted netrins include the Deleted in Colorectal Cancer (DCC) family, the Down's syndrome cell adhesion molecule (DSCAM), and the UNC-5 homolog family: Unc5A, B, C and D in mammals. Netrin Gs do not appear to interact with these receptors, but regulate synaptic interactions between neurons by binding to the transmembrane netrin G ligands NGL1 and 2. The chemotropic function of secreted netrins has been best characterized with regard to axon guidance during the development of the nervous system. Extending axons are tipped by a flattened, membranous structure called the growth cone. Multiple extracellular guidance cues direct axonal growth cones to their ultimate targets where synapses form. Such cues can be locally derived (short-range), or can be secreted diffusible cues that allow target cells to signal axons from a distance (long-range). The secreted netrins function as short-range and long-range guidance cues in different circumstances. In addition to directing cell migration, functional roles for netrins have been identified in the regulation of cell adhesion, the maturation of cell morphology, cell survival and tumorigenesis.

  10. Vertical transmission of macular telangiectasia type 2.

    Science.gov (United States)

    Delaere, Lien; Spielberg, Leigh; Leys, Anita M

    2012-01-01

    The purpose of this study was to report vertical transmission of macular telangiectasia type 2 and type 2 diabetes mellitus in 3 families. In this retrospective interventional case series, the charts of patients with inherited macular telangiectasia type 2 were reviewed. A large spectrum of presentations of macular telangiectasia type 2 was observed and has been studied with different techniques including best-corrected visual acuity, microperimetry, confocal blue reflectance fundus autofluorescence, fluorescein angiography, and time domain and spectral domain optical coherence tomography. Vertical transmission of macular telangiectasia type 2 and associated type 2 diabetes mellitus is described in 3 families. Symptomatic as well as asymptomatic eyes with macular telangiectasia type 2 were identified. In 2 families, a mother and son experienced visual loss and were diagnosed with macular telangiectasia type 2. All 4 patients had type 2 diabetes. Diabetic retinopathy was observed in one mother and her son. In the third family, the index patient was diagnosed macular telangiectasia type 2 after complaints of metamorphopsia. She and her family members had type 2 diabetes mellitus, and further screening of her family revealed familial macular telangiectasia type 2. None of the patients were treated for macular telangiectasia type 2. Macular telangiectasia type 2 may be more common than previously assumed, as vision can remain preserved and patients may go undiagnosed. Screening of family members is indicated, and detection of mild anomalies is possible using fundus autofluorescence and spectral domain optical coherence tomography.

  11. Familial Aggregation of Insomnia.

    Science.gov (United States)

    Jarrin, Denise C; Morin, Charles M; Rochefort, Amélie; Ivers, Hans; Dauvilliers, Yves A; Savard, Josée; LeBlanc, Mélanie; Merette, Chantal

    2017-02-01

    There is little information about familial aggregation of insomnia; however, this type of information is important to (1) improve our understanding of insomnia risk factors and (2) to design more effective treatment and prevention programs. This study aimed to investigate evidence of familial aggregation of insomnia among first-degree relatives of probands with and without insomnia. Cases (n = 134) and controls (n = 145) enrolled in a larger epidemiological study were solicited to invite their first-degree relatives and spouses to complete a standardized sleep/insomnia survey. In total, 371 first-degree relatives (Mage = 51.9 years, SD = 18.0; 34.3% male) and 138 spouses (Mage = 55.5 years, SD = 12.2; 68.1% male) completed the survey assessing the nature, severity, and frequency of sleep disturbances. The dependent variable was insomnia in first-degree relatives and spouses. Familial aggregation was claimed if the risk of insomnia was significantly higher in the exposed (relatives of cases) compared to the unexposed cohort (relatives of controls). The risk of insomnia was also compared between spouses in the exposed (spouses of cases) and unexposed cohort (spouses of controls). The risk of insomnia in exposed and unexposed biological relatives was 18.6% and 10.4%, respectively, yielding a relative risk (RR) of 1.80 (p = .04) after controlling for age and sex. The risk of insomnia in exposed and unexposed spouses was 9.1% and 4.2%, respectively; however, corresponding RR of 2.13 (p = .28) did not differ significantly. Results demonstrate evidence of strong familial aggregation of insomnia. Additional research is warranted to further clarify and disentangle the relative contribution of genetic and environmental factors in insomnia. © Sleep Research Society 2016. Published by Oxford University Press on behalf of the Sleep Research Society. All rights reserved. For permissions, please e-mail journals.permissions@oup.com.

  12. Identification of families among highly inclined asteroids

    Science.gov (United States)

    Gil-Hutton, R.

    2006-07-01

    A dataset of 3652 high-inclination numbered asteroids was analyzed to search for dynamical families. A fully automated multivariate data analysis technique was applied to identify the groupings. Thirteen dynamical families and twenty-two clumps were found. When taxonomic information is available, the families show cosmochemical consistency and support an interpretation based on a common origin from a single parent body. Four families and three clumps found in this work show a size distribution which is compatible with a formation due to a cratering event on the largest member of the family, and also three families have B- or related taxonomic types members, which represents a 14% of the B-types classified by Bus and Binzel [2002. Icarus 158, 146-177].

  13. Bequeathing Family Continuity.

    Science.gov (United States)

    Spanier, Graham B.

    1989-01-01

    Notes that many children who experience abuse, family disruption, or poverty reach adulthood with a strong commitment to family life. Questions whether changes in American families are indicators of pathology, deterioration, and instability; and asks how dysfunctional families transmit commitment to the concept of family to succeeding generations.…

  14. The Reconstituted Family

    OpenAIRE

    Talbot, Yves

    1981-01-01

    The reconstituted or step-family is becoming more prevalent. The physician who cares for families should be acquainted with the different aspects of such family structure and family functioning. This will enable professionals to better understand and assist their patients, by anticipating the different stresses related to the new family formation, and supporting their adaptation.

  15. The Economy of Family Farming Production

    OpenAIRE

    Forero-Álvarez, Jaime

    2013-01-01

    Based on the authors’ own research, and on a review of literature on the subject, we propose a conceptualization of two types of family farming, peasants and capitalized non-peasants family farmers. The focus is placed on partial monetization of the production model. The existence of a monetary and a non-monetary dimension is the key to explaining the economic rationality of these two production models. As a way of explaining the economic efficiency of family farmers, the article concludes wi...

  16. The Economy of Family Farming Production

    OpenAIRE

    Forero-Álvarez, Jaime

    2013-01-01

    Based on the authors' own research, and on a review of literature on the subject, we propose a conceptualization of two types of family farming, peasants and capitalized non-peasants family farmers. The focus is placed on partial monetization of the production model. The existence of a monetary and a non-monetary dimension is the key to explaining the economic rationality of these two production models. As a way of explaining the economic efficiency of family farmers, the article concludes wi...

  17. Family Structure, Residential Mobility, and Environmental Inequality

    Science.gov (United States)

    Downey, Liam; Crowder, Kyle; Kemp, Robert J.

    2016-01-01

    This study combines micro-level data on families with children from the Panel Study of Income Dynamics with neighborhood-level industrial hazard data from the Environmental Protection Agency and neighborhood-level U.S. census data to examine both the association between family structure and residential proximity to neighborhood pollution and the micro-level, residential mobility processes that contribute to differential pollution proximity across family types. Results indicate the existence of significant family structure differences in household proximity to industrial pollution in U.S. metropolitan areas between 1990 and 1999, with single-mother and single-father families experiencing neighborhood pollution levels that are on average 46% and 26% greater, respectively, than those experienced by two-parent families. Moreover, the pollution gap between single-mother and two-parent families persists with controls for household and neighborhood socioeconomic, sociodemographic, and race/ethnic characteristics. Examination of underlying migration patterns reveals that single-mother, single-father, and two-parent families are equally likely to move in response to pollution. However, mobile single-parent families move into neighborhoods with significantly higher pollution levels than do mobile two-parent families. Thus, family structure differences in pollution proximity are maintained more by these destination neighborhood differences than by family structure variations in the likelihood of moving out of polluted neighborhoods. PMID:28348440

  18. Family Capital: Implications for Interventions with Families

    Science.gov (United States)

    Belcher, John R.; Peckuonis, Edward V.; Deforge, Bruce R.

    2011-01-01

    Social capital has been extensively discussed in the literature as building blocks that individuals and communities utilize to leverage system resources. Similarly, some families also create capital, which can enable members of the family, such as children, to successfully negotiate the outside world. Families in poverty confront serious…

  19. Familial Pulmonary Fibrosis

    Science.gov (United States)

    ... Education & Training Home Conditions Familial Pulmonary Fibrosis Familial Pulmonary Fibrosis Make an Appointment Find a Doctor Ask a ... more members within the same family have Idiopathic Pulmonary Fibrosis (IPF) or any other form of Idiopathic Interstitial ...

  20. Family Activities for Fitness

    Science.gov (United States)

    Grosse, Susan J.

    2009-01-01

    This article discusses how families can increase family togetherness and improve physical fitness. The author provides easy ways to implement family friendly activities for improving and maintaining physical health. These activities include: walking, backyard games, and fitness challenges.