Search results for "GIR"

Pruriginous Lesions in a Young Girl: Answer.

2018

Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy (primary dysferlinopathies).

2000

Made available in DSpace on 2016-10-10T03:52:18Z (GMT). No. of bitstreams: 5 Secondary reduction in calpain 3 expression in patients with limb girdle muscular dystrophy type 2B and Miyoshi myopathy.pdf: 167085 bytes, checksum: b445ec059ea2d0f06bd4fa913354872a (MD5) license_url: 52 bytes, checksum: 2f32edb9c19a57e928372a33fd08dba5 (MD5) license_text: 24259 bytes, checksum: f1f24f769b03eb8f9cd3f53c1090841c (MD5) license_rdf: 24658 bytes, checksum: 9d3847733d3c0b59c7c89a1d40d3d240 (MD5) license.txt: 1887 bytes, checksum: 445d1980f282ec865917de35a4c622f6 (MD5) Previous issue date: 2000 Dysferlin is the protein product of the gene (DYSF) that is defective in patients with limb girdle muscular dy…

Transient chylomicronemia preceding the onset of insulin-dependent diabetes in a young girl with no humoral markers of islet autoimmunity

2004

OBJECTIVE: We investigated the possible causes of diabetes in a young child who presented with hyperglycemia associated with severe hypertriglyceridemia (>166 mmol/l), hypercholesterolemia (>38 mmol/l) and fasting chilomicrons. RESULTS: The patient did not have any of the HLA and autoantibody markers typically associated with type 1 diabetes. A glucose clamp failed to demonstrate insulin resistance (peripheral glucose utilization rate (M)=4.3 mg/kg per min) and there was no family history of type 2 diabetes or maturity onset diabetes in youth. Both fasting and stimulated C-peptide levels, including those in response to i.v. glucagon, were below the limit of detection. This is consiste…

Primary perireticulin amyloidosis in a 14-year-old girl.

1976

A primary perireticulin amyloidosis is reported in a 14-year-old girl, which showed the symptoms of a steroid-resistant nephrotic syndrome. The diagnosis was established by biopsies of kidney and rectum. Occurrence of amyloidosis in childhood and the clinical picture are discussed and references to clinical trials carried out are given.

Subperiosteal Aneurysmal Bone Cyst Located in the Fifth Metatarsal Shaft in a 13 Year-Old Girl

2010

Abstract Objective We present s a case of aneurysmal bone cyst, unusual and rare, both for its location and its initial clinical and radiographic presentation. Case report A girl of 13 years consulting for atraumatic pain in the outer edge of right foot, with a normal initial X-ray and then one month later presented with a subperiosteal tumour lesion in the fifth metatarsal shaft, which was definitively diagnosed as an aneurysmal bone cyst, Campanacci type IV. Conclusions There are few cases in the literature of aneurysmal bone cyst with these characteristics. Such lesions may pose significant diagnostic difficulties with other pathologies, such as tumours, stress fractures or infections, d…

Pruriginous Lesions in a Young Girl: Challenge.

2018

Sudden Complex Hallucinations in a 14-Year-Old Girl: Schizophrenia Spectrum Disorders Versus Dissociative Disorders-The Influence of Early Life Exper…

2020

A 14-year-old girl is taken to the pediatric emergency department (ED) by her parents because of sudden complex hallucinations.She shows moderate intellectual disability without a peculiar phenotype already evaluated by neuropediatrics (normal comparative genomic hybridization array and brain magnetic resonance imaging) and most likely related to affective deprivation at the orphanage. Adopted at 20 months from China, her parents reported that on arrival she had scars, allegedly from being tied to a chair for a long time, and that although she was able to stand, she could not walk. At 22 months, she had experienced several episodes of loss of consciousness with rigidity that were attributed…

Ethical issues: invasive ventilation in amyotrophic lateral sclerosis.

2012

The first man was a school headmaster. By his eye-gaze system he is able to order coins to enlarge his 10-year collection. His grandchildren extort presents from him in exchange for help. The second was a prefect and even now insists that the flowers in the garden represent the national flag. In spite of his gastrostomy, he still likes to sip his espresso from porcelain cups. The ventilation circuit 24/7 has not changed his custom to read the newspapers and listen to classical music in the living room. That girl is a young mum. She is fed by a tube, but she always makes her little child laugh with the dialectal phrases that she writes on the screen. The surgeon, every day in his electric wh…

Osteoblastic osteogenic sarcoma in a 13-month-old girl.

1994

Summary Osteosarcoma is exceptional in early periods of life. Therefore osteosarcomas involvingthe bones of the hand are extremely rare. We present a case of an osteogenic sarcoma involving the second metacarpal bone of a 13-month-old girl who has been remaining free of disease, after treatment — radial amputation and chemotherapy pre- and post-operative-, for a period of 10 years in the follow-up.

El debat pro i antifeminista a la literatura catalana medieval

1987

This 1987 PhD dissertation, was de facto supervised by professors Lola Badia (Universitat de Barcelona) and Alan Deyermond (Queen Mary University of London), although, because of legal limitations at that time, supervision was officially signed by another professor). This was a pioneer work in the field of women’s studies, particularly in the so-called “querelle des femmes”, although, as the dissertation study specifies, this label would only become known as such in post-medieval times. This work, then, does not deal with all misogynistic references in the whole corpus of medieval Catalan literature (that would be quite impossible in one publication), but only with those texts arguing for o…