Introduction Cornelia De Lange Syndrome is named after Dr. Cornelia de Lange, a Dutch pediatrician who saw two patients in a pediatric hospital presenting with the same symptoms and bearing a striking resemblance in their facial features. At the time, she could not find any literature containing similar cases and eventually, the syndrome was named after her. However, there was a case reported in 1916, which was more focused on deformities in the extremities as opposed to drawing focus to the unique facial features of the person with CDLS—which is probably the reason Dr. Lange overlooked his findings. Arguably the most decisive way to detect CDLS is through its very distinct facial features: thin arched and connecting eyebrows, thick eyebrows, …show more content…
The only type of treatment that is available is based on the individual needs of the person with the disease. The following studies and services are recommended for most patients directly following a positive diagnosis of the disease: echocardiogram, kidney ultrasound, vision evaluation, hearing evaluation, upper GI series, endoscopy, GERD evaluation, developmental assessment every one to three years from infancy, early interventions as needed, growth assessment based on CDLS growth charts and support information for the parents and caregivers. In addition to these early services and treatments, there are other treatment options depending on the child’s age and individual needs. By 18 months a male child may need to be treated for cryptorchidism, child should begin speech and occupational therapy as soon as possible, dentistry, assessing for the potential of vomiting bile, behavioral assessment as well as routine audiology and ophthalmology …show more content…
CDLS results in physical, medical and mental issues that can be treated with early interventions but the syndrome itself cannot be cured or even prevented. Although there is genetic testing that can be preformed on a parent who may be at risk for having a child with CDLS, the syndrome’s appearance is usually sporadic and without cause. It is a very rare occurrence and 30-40% of the time; the specific gene that causes CDLS in a particular child can be a mystery. Microcephaly, cleft lip, low ears, a connecting and arched eyebrows, thick eyelashes, mild to severe intellectual disability, self-injurious behaviors, impaired hearing, impaired sight, undescended testicles, deformities in the extremities as well as GERD and GI issues are just some of the most quintessential markers of CDLS. Although there is no cure for the disease, with an early diagnosis and proper management and early intervention, the person with this syndrome can lead a long and happy
On August 23, 1980 in Conroe, Texas, is 40 miles north of Houston, a 16-year-old girl, Cheryl Fergeson, disappeared while searching for a women’s restroom at Conroe High School (Gores, 1991). Cheryl was the manager of the Bellville High girls’ volleyball team visiting Conroe High School for a preseason scrimmage. Later that day while searching for the girl two janitors, Clarence Brandley who is black, and Henry Peace who is white, found the girl’s body hidden under some scenery flats in the loft above the auditorium stage. Cheryl has been raped and strangled to death. Clarence and Henry were interrogated and made to sign statements. The two janitors were then taken to the hospital and made to give sperm, blood, and hair samples from their head
There are many women who are currently in an abusive relationship, or have been in an abusive relationship. The most common reason these women do not leave their abuser is because they are scared, financial, or family reasons. Amy McGee would be alive today to tell her own story if her situation was handled differently.
DISCUSSION/ANALYSIS Introduction: Throughout this discussion, I will debate and analyse the ideas I have collected from my research. My discussion is separated under sub headings which will allow me to form a better understanding of how capital punishment is viewed, which will help me in reaching a possible answer to my question. Firstly, I am going to be discussing two very well known case studies. Case studies: The two case studies I have picked to focus my research on are: Derek Bentley who was the last man executed in Britain along with Ruth Ellis who was the last woman executed in Britain.
I will discuss the general symptoms of these two types along with pathology, diagnostic factors, and the different treatments for this disorder (Smith). EDS can vary in severity and are transmitted as autosomal recessive, autosomal dominant, or X-linked recessive traits. The primary characteristics are hyperextensible skin and joints (Dia. 1-2, pg.6), tendency to bruise easily (Dia. 3, pg.6), reduced wound healing capability, pseudotumors, and ocular defects. Differences within the six types may reflect inter/intra familial variability or genetic heterogeneity. Each type of EDS is classified into symptoms and signs that result (Clarke, D., Skrocki-Czerpak, K., Neumann-Potash, L).
Dott “Dorothy” Case was an extremely influential woman in the health care field. She became a doctor, instructor, associate professor, surgeon, and cheifship of surgery. She created her own private practice, became director of public health for the Philadelphia Federation of Women’s Clubs and allied organizations, and created the Dorothy Case-Blechschmidt Cancer Health Clinic of Doctor’s Hospital. In addition to all her accomplishments Dorothy was also a mother, and a wife. She is an exceptional example of the endless limits a woman can reach in the field of health professions.
The family is scared as to what might happen with the heart surgery. Justine’s mother is also afraid that her family might blame her for going ahead with the heart surgery if anything bad were to happen to Justine in the hospital during the surgery. The family is hoping that the healing or the praying ceremony scheduled at the temple might work and cure Justine, and hopefully surgery might not be needed after all.
Discrimination in the workplace continues to be topics and issues of discussion, despite efforts to minimize or eliminate its ugly head. Discrimination is defined as the unfair or prejudicial treatment of people based on race, gender, disability or age (Fieser, 2015). Furthermore, some companies has used other forms in conjunction with discrimination like sexual harassment to mask unjust treatment in the workplace. Lilly Ledbetter was an employee at Goodyear Tire & Rubber Company, Inc. for over 19 years. During this period, she consistently received low rankings in her annual performance-and-salary reviews. As a result, Lilly received significantly lower raises than her male counterparts, which led to her filing a civil lawsuit
The fetus in utero may show signs of slow growth and organs may not develop correctly. After birth there can be physical defects evidenced by a smooth skin surface between upper lip and nose, the nose may be upturned, wide set eyes and an extremely thin upper lip. The head may be small in circumference and brain size, deformities of the joints, vision and hearing problems, heart defects and problems with bones and kidneys. There may be problems with the central nervous system and brain, including poor memory and judgement, learning disorders, delayed development, poor coordination and/or balance and hyperactivity or jitteriness, and mood swings. Children born with FAS may have difficulty is school, have poor social skills, have trouble adapting to change, lack impulse control, unable to stay on task and find it hard to plan or work towards a goal. The severity and negative effects range from subtle to serious, they are always
the disorder depends on the status of the mother and of the father. The figure below
According to Hassold and Sherman (2002), the probability of giving birth to a child with DS is not linked to any race, ethnicity, socioeconomic status or geographic location. Maternal age seems to be the only etiological factor that may cause DS. Some characteristics of DS include: deep folds at the corners of the eyes, hypotonia, short stature, flexible joints, small oral cavity and heart defects (Taylor, Richards, & Brady, 2005). Most individuals with DS have a moderate intellectual disability, although there is a range of disability, from severe to high functioning (IQ above 70). Since DS is a birth defect and not a disease, there are no treatment options.
The neurological disorder is generally diagnosed in children aged between six and twelve years, the condition affecting boys three times more often than girls (Hamilton, 2002; Gardner, 2008). Despite the fact that DCD affects roughly 6.4 percent of children, few individuals are familiar with the condition (Hamilton, 2002). In fact, a study by Kirby, Davies, & Bryant (2005) revealed that only 54.3% of teachers and 26.7% of general practitioners could accurately define DCD (p. 124). In response, the condition will be briefly outlined here.
Rosa Lee Cunningham is a 52-year old African American female. She is 5-foot-1-inch, 145 pounds. Rosa Lee is married however, is living separately from her husband. She has eight adult children, Bobby, Richard, Ronnie, Donna (Patty), Alvin, Eric, Donald (Ducky) and one child who name she did not disclose. She bore her eldest child at age fourteen and six different men fathered her children. At Rosa Lee’s recent hospital admission to Howard University Hospital emergency room blood test revealed she is still using heroin. Though Rosa Lee recently enrolled in a drug-treatment program it does not appear that she has any intention on ending her drug usage. When asked why she no longer uses heroin she stated she doesn’t always have the resources to support her addiction. Rosa Lee is unemployed and receiving very little in government assistance. She appears to
Girls with this syndrome may have many middle ear infections during childhood; if not treated, these chronic infections could cause hearing loss. Up to the age of about 2 years, growth in height is approximately normal, but then it lags behind that of other girls. Greatly reduced growth in height of a female child should lead to a chromosome test if no diagnosis has already been made. Early diagnosis is very importance in order to be able to give enough correct information to the parents, and gradually to the child herself, so that she has the best possibilities for development. Early diagnosis is also important in case surgical treatment of the congenital heart defect (seen in about 20 per cent of cases) is indicated.
...omosomes or genetic/chromosomal disorders. The most common type of genetic or chromosomal disorder is Down Syndrome or trisomy 21 (Cherry, n.d.). The condition occurs when a child has three chromosomes at the site of the twenty-first chromosome rather than the normal two. Some of the most common signs of Down Syndrome include round face, thick tongue, slanted eyes, hearing problems, heart defects, and intellectual impairment.