Costello syndrome
Cardiac Disease in Costello Syndrome
... in Costello syndrome, and are suggestive of an on- going metabolic or storage disease with myocardial ...with Costello syndrome has been divided into two phas- ...
6
A mouse model for Costello syndrome reveals an Ang II–mediated hypertensive condition
... Germline activation of H-RAS oncogenes is the primary cause of Costello syndrome (CS), a neuro-cardio-facio- cutaneous developmental syndrome. Here we describe the generation of a mouse model of CS ...
12
Recombinant growth hormone therapy in a girl with costello syndrome: a 4-year observation
... During 3.5 years of follow-up, we have observed accel- erated growth in our rhGH-treated patient, and no ser- ious health complications have yet occurred. In infancy the girl was diagnosed with supraventricular ...
6
Costello Syndrome with Congenital Pulmonary Valve Stenosis and Ventriculomegaly—A Case Report
... In Costello syndrome, the valvular pulmonic stenosis is usually non-progressive and found in 44% of cases and hypertrophic cardiomyopathy is chronic or progressive and found in 61% of cases and atrial ...
18
Precocious puberty and Chiari I malformation with syrinx: a case report of an unusual presentation of Costello syndrome
... Costello syndrome (CS) is an autosomal dominant RASopathy with an estimated prevalence of 1:300,000 to 1:1,230,000 [1]. It is caused by a mutation in HRAS, a proto-oncogene encoding p21RAS proteins in the ...
5
RASopathies Are Associated With Delayed Puberty; Are They Associated With Precocious Puberty Too?
... RASopathies include Noonan syndrome (NS), Costello syndrome (CS), and cardio-facio-cutaneous syndrome (CFCS). These syndromes have overlapping features, such as craniofacial dysmorphisms; ...
6
The impact of RASopathy-associated mutations on CNS development in mice and humans
... facio-cutaneous syndrome; CKO: Conditional knockout; CNS: Central nervous system; CS: Costello syndrome; ERK: Extracellular signal-regulated kinase; GABAergic: Gamma-aminobutyric acidergic; GAPs: ...
17
Syndrome Associated with Cleft Palate and Cleft Lip
... Collins syndrome also known as Mandibulofacial dysostosis or Franceschetti- Zwahlen-Klein ...Collins syndrome is a condition that affects the development of bones and other tissues in the ...
6
Deletion 22q13.3 syndrome
... Phelan-McDermid syndrome is a microdeletion syn- drome resulting from loss of 22q13 by simple deletion, unbalanced translocation, ring chromosome formation, or other unbalanced structural change ...
6
The Greig cephalopolysyndactyly syndrome
... The primary clinical triad of GCPS is polysyndactyly, mac- rocephaly, and hypertelorism [2-4] (Figure 1). The poly- dactyly is classically described as preaxial, and may occur in any limb. Postaxial polydactyly may be ...
6
STUDIES ON METABOLIC SYNDROME AND ITS MANAGEMENT WITH LIFE STYLE MODIFICATION, IN NON DIABETIC INDIVIDUALS
... metabolic syndrome are still untouched and had already griped the ...Metabolic Syndrome is related with the diet habit of an ...metabolic syndrome in non diabetic ...
7
Genetic Factors in Selected Complex Congenital Malformations with Cleft Defect
... About 75% of STL is type I (STL1). This is au- tosomal dominant and associated with abnormal- ities in type II collagen structure. Type II colla- gen is the main constituent of the vitreous of the eye, of cartilage, and ...
11
Protein expression in colorectal cancer
... I would like to thank the following people: My supervisors, Dr Eithne Costello, Dr Bill Greenhalf and Mr Paul Rooney Mr Ilyas Khattak for allowing me access to images from 2D gels of und[r] ...
262
Comorbidity of the Metabolic Syndrome: Hyperuricemia, Gallstone Disease, Hormonal Disorders
... component. And some studies concluded that GSD might be a component of MetS [26, 6, 43] although it needs to be validated by more evidences. According to other authors MetS is strongly connected with GSD and the more the ...
9
Psychosocial perspectives in the treatment of pediatric chronic pain
... fibromyalgia syndrome (JFMS), chronic fatigue syndrome (CFS), widespread pain syndrome (WPS), chronic pelvic pain, irritable bowel syndrome (IBS), recurrent abdominal pain (RAP), tension ...
11
Simpson-Golabi-Behmel syndrome types I and II
... Main tumors to be screened are: 1) Wilms and liver tumors: Abdominal ultrasound examination every three and four months from birth until at least age seven and yearly there after [32,54]. Abdominal ultrasound examin- ...
8
Massive Idiopathic Pneumoperitoneum in Children: A Case Report
... response syndrome, respiratory dis- tress syndrome, bilateral pulmonary condensation syndrome, the volume of the abdomen is normal and depressible as a whole, but sensitive in the right hypo- ...
6
Oculocutaneous albinism
... Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin biosynthesis characterized by a generalized reduction in pigmentation of hair, skin and eyes. The prevalence of all forms of albinism varies ...
8
The puzzle of double referendums in the European Union
... In addition to this new emphasis on EU membership, the Yes campaigners further raised the stakes by stressing the economic consequences of a second No vote. In Denmark, both the Liberal Party and the Social Democrats ...
30
Novel and de novo mutations in pediatric refractory epilepsy
... Dravet syndrome is closely related to the SCN1A gene, which was the most frequently-appearing gene show- ing variants in our ...Ohtahara syndrome, West syndrome, Doose syndrome and tuberous ...
18