Search results for "GIR"

Haploinsufficiency of 16.4 Mb from chromosome 22pter-q11.21 in a girl with unilateral conductive hearing loss.

2009

We present the postnatal diagnosis of a de novo der(18)t(18;22)(p11.32;q11.21)pat, resulting in an unbalanced 45,XX,der (18)t(18;22) karyotype in a girl with conductive hearing loss on the left and ptosis of the right upper eye-lid. Unilateral ptosis was also observed in the patient’s 2 years and 8 months younger sister, who grows noticeably faster and appears to be a much quicker learner. After speech therapy the patient was eventually placed in normal school. The haploinsufficient 16.4-Mb region on chromosome 22pter→q11.21 contains 10 genes as well as many predicted genes, pseudogenes, and retrotransposed sequences with unknown functions. This observation may prove useful for prenatal dia…

Clinicopathological conference: an adolescent girl with severe mental impairment and mucopolysacchariduria.

1985

Scurvy as an alarm bell of autistic spectrum disorder in the first world: A case report of a 3-year-old girl

2021

Patient: Female, 3-year-old Final Diagnosis: Scurvy and autistic spectrum disorder Symptoms: Bleeding gums • pain • petechia Medication: — Clinical Procedure: Haematochemical blood examinations • radiographic study Specialty: Endocrinology and Metabolic Objective: Rare disease Background: Scurvy secondary to deficiency of vitamin C is a rare condition in children. The polymorphism of clinical signs and symptoms makes scurvy diagnosis a challenge for the pediatrician. Case Report: A 3-year-old girl came to our observation because she refused to walk and to stand, she showed petechiae, follicular hyperkeratosis on the limbs, and bleeding gums. After a physical exam, laboratory tests, and X-ra…

BEF Analogy for Concrete Box Girder Analysis of Bridges

2010

<p>Box girder, due to its high torsional stiffness, is very appropriate for railway and highway long- medium span bridges. This type of cross section, subjected to transversely non-uniform loads, present warping and distortion phenomena. Accurate but time-consuming numerical procedures are available for determination of further strains and stresses caused by cross-section deformation. In this paper warping and distortion of box girders is evaluated through BEF analogy, by writing a 4th order differential equation. The problem is solved for practical cases of box girders by considering internal diaphragms stiffness. Graphs are supplied to designers and main design parameters affecting …

La verdad en el sepulcro : Romance a la muerte de la Excma. Señora Doña Josefa Tellez, Giron y Pimentel, Marquesa de Camarasa,&c.

Signat al final: M. E. G Sign.: [ ]4

Identification of two new alleles at k-casein (CSN3) gene in Girgetana goat breed

2013

In the milk of ruminants, more than 95% of proteins are synthesized by six structural genes, four caseins and two whey proteins. The κ-casein fraction plays an important role in the formation, stabilization and aggregation on casein micelles and thus affects technological and nutritional properties of milk. Goat κ-casein (CSN3) gene comprises five exons with the mRNA coding region for mature protein spanning from exon 3 to exon 4. The κ-casein locus has been widely investigated and several genetic variants have been found in different goat breeds. At protein level, AIEF and BIEF groups corresponding to isoelectric point 5.53 and 5.78, respectively, have been identified. In this study, exon …

COMPORTAMENTO DI IMPALCATI DA PONTE A CASSONE IN ACCIAIO-CALCESTRUZZO CON ANIMA ONDULATA

2013

La memoria riguarda il comportamento di un impalcato di ponte stradale a cassone avente le anime sagomate secondo una sinusoide, con soletta in c.a. collaborante. L'impalcato presenta schema statico longitudinale di trave continua su 4 appoggi. The paper concerns the behaviour of a box-girder bridge deck road having a steel box and a concrete slab. The steel webs are shaped according to a sine wave. The deck has a width of 13.70 m and a length of 182 m, with the longitudinal static scheme as a continuous beam on four supports. The study highlights the reliability of this constructive solution.

Transducers for the bidirectional decoding of prefix codes

2010

AbstractWe construct a transducer for the bidirectional decoding of words encoded by the method introduced by Girod (1999) in [5] and we prove that it is bideterministic and that it can be used both for the left-to-right and the right-to-left decoding.We also give a similar construction for a transducer that decodes in both directions words encoded by a generalization of Girod’s encoding method. We prove that it has the same properties as those of the previous transducer. In addition we show that it has a single initial/final state and that it is minimal.

2014

Background: The aim of this study was to explore how pelvic girdle pain after delivery influences women’s daily life in Norway. Knowledge about living with post-partum pelvic girdle pain is lacking. Method: A phenomenological–hermeneutical design with qualitative semi-structured interviews was used. A strategic selection procedure was chosen to recruit participants from physiotherapy clinics and a regional hospital in Norway. Five women with clinically verified pelvic girdle pain after delivery were included. Data were imported into NVivo9 and analysed in three steps: naive reading, structural analysis and comprehensive understanding of the text. Results: Three themes influencing the women’…

Jacqueline Woodson’s narrative style in The Other Side: An African American picture book for children

2012

The Other Side (2001) is a children’s story with multicultural characters and themes that can be regarded as an aesthetic exploration of the human experience in the process of the acquisition of knowledge. Following the Black Arts Movement, Jacqueline Woodson’s work portrays many of the issues that are present in the real world but seldom appear in children’s literature, such as racial division or interracial relationships. Using the metaphor of a fence, this African American author reveals issues of loneliness and friendship, inclusion and exclusion, and the overcoming of prejudice and segregation through the wisdom of Clover and Annie, an African American and a white girl, who become frie…