Science.gov (United States)

PMID:5050423

DEFF Research Database (Denmark)

Mutations in the FGD1 gene have been shown to cause Aarskog-Scott syndrome (AAS), or facio-digito-genital dysplasia (OMIM#305400), an X-linked disorder characterized by distinctive genital and skeletal developmental abnormalities with a broad spectrum of clinical phenotypes. To date, 20 distinct mutations have been reported, but little phenotypic data are available on patients with molecularly confirmed AAS. In the present study, we report on our experience of screening for mutations in the FGD1 gene in a cohort of 60 European patients with a clinically suspected diagnosis of AAS. We identified nine novel mutations in 11 patients (detection rate of 18.33%), including three missense mutations (p.R402Q; p.S558W; p.K748E), four truncating mutations (p.Y530X; p.R656X; c.806delC; c.1620delC), one in-frame deletion (c.2020_2022delGAG) and the first reported splice site mutation (c.1935+3A>C). A recurrent mutation (p.R656X) was detected in three ...

UK PubMed Central (United Kingdom)

Oculo-skeletal dysplasia segregates in two canine breeds, the Labrador retriever and samoyed, in which the causative loci have been termed drd1 and drd2, respectively....Full Text Available

UK PubMed Central (United Kingdom)

In X-linked nephrogenic diabetes insipidus (NDI) the urine of male patients is not concentrated after the administration of the antidiuretic hormone arginine-vasopressin. This disease is due to mutations...Full Text Available

Science.gov (United States)

The progression of hip dysplasia was investigated in 116 military working dogs. Serial pelvic radiographs were graded for degree of dysplasia and degenerative joint disease (DJD). Norberg angles, angles of inclination, and joint space widths were measured. There was a significant correlation between the Norberg angle and the degree of dysplasia (p less than 0.0001). Angles of inclination and joint space width measurements did not demonstrate a correlation to canine hip dysplasia. Dysplastic dogs had a significant estimated risk for development of DJD compared to normal dogs (p less than 0.0001; odds ratio of 70.2). Dogs with normal hip conformation at 24 months of age or older did not develop moderate nor severe DJD. PMID:8875357

UK PubMed Central (United Kingdom)

BackgroundAutofluorescence bronchoscopy is more sensitive than conventional bronchoscopy for detecting early airway mucosal lesions. Decreased specificity can lead...Full Text Available

Science.gov (United States)

The progression of hip dysplasia was investigated in 116 military working dogs. Medical records were reviewed for any clinical history of hind-limb lameness. Pelvic radiographs were studied for evidence and degree of hip dysplasia, degenerative joint disease, or both. The number of months each dog worked was determined. Each dog's age at termination from service and cause of death (or euthanasia) were recorded. The mean months of work for normal and dysplastic dogs were evaluated using the Student's t-test. No significant difference was found in the total number of months worked between normal and dysplastic dogs (p greater than 0.05). PMID:8875358

UK PubMed Central (United Kingdom)

BackgroundThe natural history of bronchial preinvasive lesions and the risk of developing lung cancer in patients with these lesions are not clear. Previous studies have treated...Full Text Available

UK PubMed Central (United Kingdom)

Ulcerative colitis (UC) is a chronic inflammatory disease of the colon with a high incidence of colon cancer. Dysplasia is a precursor to carcinoma and a predictor of malignant potential; epithelia...Full Text Available

International Nuclear Information System (INIS)

We present the case of a 12-year-old girl who presented with a pathological fracture through a benign-appearing osteolytic lesion that was presumed to represent fibrous dysplasia. The fracture healed, and over the next 2.5 years there was further refracturing and healing with progressive osteolysis. A biopsy was performed and revealed Ewing's sarcoma. The disease was locally controlled by neoadjuvant chemotherapy and radiation therapy. The patient is disease free with excellent function 6 years following the discovery of the lesion. We illustrate and discuss the sequence of events. (orig.)

UK PubMed Central (United Kingdom)

The IFAP syndrome is a rare X-linked genetic disorder reported in nearly 40 patients. It is characterized by the triad of Ichthyosis Follicularis, Alopecia, and Photophobia from birth. Other features...Full Text Available

UK PubMed Central (United Kingdom)

Background/AimsFabry disease is an X-linked recessive and progressive disease caused by α-galactosidase A (α-GaL A) deficiency. We sought to assess the prevalence...Full Text Available

UK PubMed Central (United Kingdom)

BackgroundATRX is a tightly-regulated multifunctional protein with crucial roles in mammalian development. Mutations in the ATRX gene cause ATR-X syndrome, an X-linked...Full Text Available

Science.gov (United States)

The Belgian Malinois dog was introduced into the Department of Defense Military Working Dog Program in 1984. All dogs are purchased in Europe and have adapted well to the rigorous training requirements of the program. Most veterinary problems seen in this breed are related to kennel confinement and include traumatic dental disease, tail lesions, a variety of dermatologic conditions, and an inability to gain weight. Epilepsy is a breed problem and has been seen in this population, as has gastric dilatation/volvulus. Both elbow and hip dysplasia exist in the Malinois breed. PMID:1900116

British Library Electronic Table of Contents (United Kingdom)

The 50th anniversary of Mary Lyon?s 1961 Nature paper, proposing random inactivation in early embryonic life of one of the two X chromosomes in the cells of mammalian females, provides an opportunity to remember and celebrate the work of those involved. While the hypothesis was initially put forward by Lyon based on findings in the mouse, it was founded on earlier studies, notably the work of Susumu Ohno; it was also suggested independently by Beutler and colleagues using experimental evidence from a human X-linked disorder, glucose-6-phosphate dehydrogenase deficiency, and has proved to be of as great importance for human and medical genetics as it has for general mammalian genetics. Alongside the hypothesis itself, previous cytological studies of mouse and human chromosomes, and the obse...

International Nuclear Information System (INIS)

Full text: Disorders of brain development and phakomatosis are resulting from disturbed embryonic-foetal development One third of all major embryological anomalies involve CNS, and over 2000 different anomalies have been described. Anomalies of the brain often cause foetal and neonatal death, and mental and physical retardation in pediatric group. The majority of disorders of brain development and phakomatosis are idiopathic, and most of them are not hereditary or familial. Ultrasonography plays the important role in screening foetal and neonatal brain, but after closure of fontanels it is difficult to find the acoustic window. CT has limited contrast resolution, and disadvantage exposing infant to ionizing radiation. It is helpful to demonstrate the presence of calcifications. MR imaging has proved to be a diagnostic tool of major importance in children with disorders of brain development and phakomatosis. The excellent grey/white matter differentiation and multiplanar imaging ...

Energy Technology Data Exchange (ETDEWEB)

Aim: Today, MRI is an integral part of the presurgical evaluation of patients suffering from partial epilepsy. These patients frequently show focal morphological abnormalities with potential epileptogenic character and surgical resection of these lesions is associated with superior postsurgical outcome as to seizure frequency. Apart from easily detectable defects, such as post-traumatic lesions or cerebral infarction, as wide variety of mainly small abnormalities can be detected using MRI. Methods: In this study, 484 patients suffering from partial epilepsy of temporal or frontal onset were evaluated for the incidence of different lesions in this population. Results: All lesions found were included without evaluating their potential epileptogenicity, which remains to be proven using other procedures (EEG, SPECT, PET, etc.). Involvement of the hippocampal formation was a major finding in temporal lobe epilepsy, which could be detected as sclerosis (T2w-images), atrophy (T2w-TSE or ...