Heyde's syndrome

Introduction Research over the past 50 years has demonstrated that using prophylactic treatment regimens in children with haemophilia can prevent repeated bleeding into the joints; subsequently reducing hospitalization, chronic pain, and disability—ultimately resulting in improved quality of life (QoL) [1-4]. Prophylaxis in children with severe haemophilia is a grade 1A recommendation based on strong evidence from both randomized controlled trials (RCTs) and observational research [5]. While primary

The article is titled “Communication Modality Sampling for a Toddler with Angelman Syndrome” by Jolene Hyppa Martin, Joe Reichle, Adele Dimian, and Mo Chen. The authors explored three modes of communication, vocal, gestural, and graphic, with a young child with Angelman syndrome. The researchers investigated which mode of communication would be the most effective and efficient for the child. Angelman syndrome can cause cognitive, communication, and physical disabilities. It is a disorder that affects

Epidemiology: Obstructive sleep apnea is becoming more prevalent in adults and children in our society. Obstructive sleep apnea is undiagnosed mostly in women being 92% and 80% in men. The estimated prevalence in women is 2% and in men is 4%. A study was done by the University of Pennsylvania revealing that the prevalence in women was 4% and 9% for men. Another study called The Wisconsin Cohrt study showed that people who are 30 to 60 years old, the prevalence is 9-24% for men and 4-9% for women

Cri-du-Chat (cat’s cry) Syndrome is a rare chromosomal disorder that is caused by the deletion of genetic material on chromosome 5. Due to this, this syndrome has an alternative name, known as 5p-, or 5p minus syndrome. Although this genetic defect is able to be diagnosed, the cause of the deletion on the chromosome is unknown. Almost all cases of the Cri-du-Chat Syndrome are found to have no relation with family members or previous generations. This syndrome is generally not inherited, as the deletion

Brownsville, she was sent to Driscoll Hospital in Corpus Christie within a couple of weeks. While being in the care at the hospital, medical doctors diagnosed Janelle with Prader-Willi Syndrome. As you can imagine, so many questions and thoughts went through her parent’s minds. To start, what is Prader-Willi Syndrome (PWS)? According to Genetic Home Reference, PWS is a complex genetic condition that affects many parts of the body, such as muscle tone, insatiable appetite, intellectual impairment, and

Did you know there are more uses for baby cams than just checking on your baby? Like making adorable video clips of a parent's devoted care of a cranky baby. For several months, Michela could not sleep through the night and woke up crying every two hours. Here is a video of what happened one night during that period in her young life. (Video) In this baby cam video from 2009, Michela's devoted Canadian father Nunzio Raso goes to check on his crying daughter. He first tries to pat her to clam her

Prader-Willi syndrome is a genetic disorder caused by the deletion of part of chromosome 15. This genetic abnormality affects the hypothalamus which influences growth hormones, sex, thirst, and hunger and is contributed to developmental delay. Children with Prader-Willi syndrome will develop hyperphagia. Hyperphagia is a serious eating disorder, and is characterized by extreme overeating to the point where it becomes life-threatening. Hyperphagia is hard to treat and is the main trait of Prader-Willi

Cornelia de Lange Syndrome typically presents with a constellation of distinctive features affecting several different parts of the body. There is a wide degree of variation between individuals with the disorder in the presentation and severity of symptoms; however, the features described below represent a typical presentation. Slow growth during both fetal and post-natal development is a characteristic feature of the disorder. Approximately 90% or more of patients display delayed skeletal maturation

Sturge-Weber Syndrome Kris Avila 08/30/2015 NURSPT 030L Mrs. B Abstract According to the Sturge-Weber Foundations, Sturge-Weber Syndrome can be diagnosed once the baby is born. With the most obvious characteristics, the baby will have a dark purple birthmark that covers close to half of his/her face. Another symptom from Sturge-Weber Syndrome is that it can cause neurological deformity. Both of these symptoms are caused by the abnormal blood vessels near the eye and on the surface

Genetic Disorder that Gives the Cry of a Cat The genetic disorder named “cri du chat” is a partial depletion of chromosome 5p. Also known as “ Lejeune's syndrome” as first described by Jerome Lejeune in 1969. The name “cri du chat” is a French term, which means cat-cry or call of the cat, because of how affected children have a kitten like cry. It affects about 1 in 50 000 children born, predominantly inherited by females by a 4/3 ratio. Although this particular symptom has been named after, the