Memory, Gender and the Changing Spanish Family in El corazón helado

Nonsyndromic hereditary hearing loss is a common sensory defect in humans that is clinically and genetically highly heterogeneous. So far, 122 genes have been associated with this disorder and 50 of them have been linked to autosomal dominant (DFNA) forms like DFNA68, a rare subtype of hearing impairment caused by disruption of a stereociliary scaffolding protein (HOMER2) that is essential for normal hearing in humans and mice. In this study, we report a novel HOMER2 variant (c.832_836delCCTCA) identified in a Spanish family by using a custom NGS targeted gene panel (OTO-NGS-v2). This frameshift mutation produces a premature stop codon that may lead in the absence of NMD to a shorter variant (p.Pro278Alafs*10) that truncates HOMER2 at the CDC42 binding domain (CBD) of the coiled-coil structure, a region that is essential for protein multimerization and HOMER2-CDC42 interaction. c.832_836delCCTCA mutation is placed close to the previously identified c.840_840dup mutation found in a Chinese family that truncates the protein (p.Met281Hisfs*9) at the CBD. Functional assessment of the Chinese mutant revealed decreased protein stability, reduced ability to multimerize, and altered distribution pattern in transfected cells when compared with wild-type HOMER2. Interestingly, the Spanish and Chinese frameshift mutations might exert a similar effect at the protein level, leading to truncated mutants with the same Ct aberrant protein tail, thus suggesting that they can share a common mechanism of pathogenesis. Indeed, age-matched patients in both families display quite similar hearing loss phenotypes consisting of early-onset, moderate-to-profound progressive hearing loss. In summary, we have identified the third variant in HOMER2, which is the first one identified in the Spanish population, thus contributing to expanding the mutational spectrum of this gene in other populations, and also to clarifying the genotype–phenotype correlations of DFNA68 hearing loss.

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A Novel Missense Mutation in the CYLD Gene in a Spanish Family With Multiple Familial Trichoepithelioma

Archives of Dermatology ◽

10.1001/archderm.143.9.1209 ◽

2007 ◽

Vol 143 (9) ◽

Cited By ~ 15

Author(s):

Agustín España ◽

Fermin García-Amigot ◽

Leyre Aguado ◽

Jesús García-Foncillas

Keyword(s):

Missense Mutation ◽

Spanish Family ◽

Cyld Gene

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Autosomal Dominant Nocturnal Frontal Lobe Epilepsy in a Spanish Family With a Ser252Phe Mutation in the CHRNA4 Gene

Archives of Neurology ◽

10.1001/archneur.56.8.1004 ◽

1999 ◽

Vol 56 (8) ◽

pp. 1004 ◽

Cited By ~ 57

Author(s):

Amets Sáenz ◽

Juan Galán ◽

Christophe Caloustian ◽

Frederic Lorenzo ◽

Celedonio Márquez ◽

...

Keyword(s):

Frontal Lobe ◽

Autosomal Dominant ◽

Frontal Lobe Epilepsy ◽

Nocturnal Frontal Lobe Epilepsy ◽

Spanish Family

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Zombies and the Breakdown of the Traditional Spanish Family: Clover’s Final Girl Fights Back in REC 3: Genesis and Daddy, I’m a Zombie

Body Horror and Shapeshifting ◽

10.1163/9781848883062_002 ◽

2014 ◽

pp. 1-11

Keyword(s):

Spanish Family

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Measuring fraud and earnings management by a case of study: Evidence from an international family business

European Journal of Family Business ◽

10.24310/ejfbejfb.v7i1-2.5016 ◽

2017 ◽

Vol 7 (1-2) ◽

Author(s):

Alicia Ramírez-Orellana ◽

María J. Martínez-Romero ◽

Teresa Mariño-Garrido

Keyword(s):

Earnings Management ◽

Family Business ◽

Growth Index ◽

Financial Statements ◽

Sales Growth ◽

Financial Problems ◽

Spanish Family ◽

Aggressive Accounting

The aim of this study is to estimate the probability of fraud and earnings management for a specific Spanish family business, Pescanova. In the context of financial statements, the Beneish model is used to detect fraudulent behavior. Our findings reveal that Pescanova presented propensity to commit fraud and carried out aggressive accounting practices before the disclosure of its financial problems. The manipulation index and the probability of manipulation are used as indicators of fraud and earnings management. Results also show that Pescanova made aggressive accounting practices, through the manipulation of Day's sales in receivables indexand Total accruals to total assets. Next, we provided evidence that the Sales Growth index and Leverage index are aligned with the position of technical default shown by the pre-bankruptcy board of Pescanova. Our main contribution is demonstrating the validity of the model for the case of Pescanova. Therefore, the application of the Beneish model might have detected fraudulent behavior, in the years prior to Pescanova's collapse.

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ANTONIO DE ULLOA, DISCOVERER OF PLATINUM

Southern Brazilian Journal of Chemistry - Southern Brazilian Journal of Chemistry, Volume 28, No. 28, 2020 ◽

10.48141/sbjchem.v6.n7.1998.4_1998_2.pdf ◽

1998 ◽

Vol 6 (7) ◽

pp. 1-6

Author(s):

Lavinel G. Ionescu

Keyword(s):

South America ◽

Royal Society ◽

Scientific Societies ◽

Spanish Family ◽

And Mathematics ◽

Academy Of Sciences ◽

Royal Society Of London

Don Antonio de Ulloa, a member of a distinguished Spanish family, was born in 1716 and died in 1795. He studied physics and mathematics and was a member of many scientific societies, including the Academy of Sciences of Paris and the Royal Society of London. He traveled widely in Europe and the Americas and occupied many important positions, including those of Frigate Captain, Commander of the Royal Squadron of the Spanish Armada, Goverment of Huancavelica -Peru, Louisiana, and Florida. In l735, while a member of a scientific expedition sent by the Spanish and French governments to South America to measure a degree of meridian in Quito, close to the equator, he discovered platinum in the mines of Lavadero or wash gold in the district of Choco.

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Supporting Breast-Feeding

PEDIATRICS ◽

10.1542/peds.63.1.60 ◽

1979 ◽

Vol 63 (1) ◽

pp. 60-63

Author(s):

Sidney R. Kemberling

Keyword(s):

Breast Milk ◽

Breast Feeding ◽

Elderly Woman ◽

Strong Support ◽

Simple Solution ◽

Solid Foods ◽

Lactating Mothers ◽

Breast Feed ◽

Spanish Family ◽

Good Nutrition

For those interested in another approach to breast-feeding, Jelliffe and Jelliffe have recently published an elegant paper titled " Breast Is Best."4 Developing skills that enhance breast-feeding can be learned by reading the books listed at the end of this article. If pediatricians want to be strong advocates of breast-feeding, they must be convinced of the advantages of breast milk. Many physicians say that they support breast-feeding but will, for instance, send formula bottles to the bedside of a breast-feeding mother. The antagonistic physician or member of the office team may make remarks such as "Are you going to breast-feed until your child goes to school?" " Are you still breast-feeding?" or " The baby needs solid foods for good nutrition." These innuendos can defeat and demoralize the breast-feeding mother. Unless the physician provides strong support against these remarks, the mother will lose her confidence. Many husbands who are advocates of breast-feeding will defend her against these discouraging remarks. Group sessions of lactating mothers also bolster morale. Many mothers find duenna substitutes whom they can communicate with by telephone. (A duenna is an elderly woman who has charge of young unmarried women in a Spanish family.) However, when breast-feeding mothers confront a serious problem for which they have no simple solution, the pediatrician has to provide the ultimate backup support.

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The Spanish Family Quality of Life Scales under and over 18 Years Old: Psychometric Properties and Families’ Perceptions

International Journal of Environmental Research and Public Health ◽

10.3390/ijerph17217808 ◽

2020 ◽

Vol 17 (21) ◽

pp. 7808

Author(s):

Anna Balcells-Balcells ◽

Joana M. Mas ◽

Natasha Baqués ◽

Cecilia Simón ◽

Simón García-Ventura

Keyword(s):

Quality Of Life ◽

Factor Analysis ◽

Psychometric Properties ◽

Family Quality Of Life ◽

Intellectual And Developmental Disabilities ◽

Validity And Reliability ◽

Confirmatory Factor ◽

Spanish Family ◽

Families With Children

Background: Family quality of life (FQoL), just like individual quality of life, has become a priority outcome in the policies and services received by persons with intellectual and developmental disabilities (IDD) and their families. Conceptualizing, measuring, and theorizing FQoL has been the object of investigation in recent decades. The goal of this paper is to present a revision of the Spanish Family Quality of Life Scales, the CdVF-E < 18 and the CdVF-E >18, and describe the FQoL of Spanish families with a member with IDD. Methods: The sample included a total of 548 families with a member under 18 years old and 657 families with a member over 18. Based on an Exploratory Factor Analysis (EFA) firstly and a Confirmatory Factor Analysis (CFA) secondly, the two scales’ psychometric properties were explored. Results: The CdVF-ER < 18 and the CdVF-ER > 18 comprise 5 dimensions, containing 35 and 32 items, respectively, and they show good validity and reliability. The families obtained a high FQoL score, although some differences exist between the dimensions on which families with children under and over 18 score highest and lowest. Conclusion: The characteristics of the revised scales facilitate their use by professionals, administrations, and services.

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