The Asherman's Syndrome

August Pullman is a 5th grader that has Treacher Collins syndrome. It’s a disease that causes someone’s face to be deformed. This prevents Auggie from going to school. But his family wants him to try it out. He has some good times but most of the time, he doesn’t enjoy it. In this essay, i will be talking about the times that he wasn’t enjoying it. And for these reasons, that’s why i choose for him not to go to school .

Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are both congenital neurological disorders that cause physical and mental impairment. There are many ways to get AS and PWS, but genomic imprinting is the most common cause. AS is typically misdiagnosed as Cerebral Palsy or Autism and symptoms for AS and PWS may vary between patients. There is no cure for AS or PWS, but physical and mental therapy can help.

An English physician discovered Angelman syndrome in 1965, Dr. Harry Angelman, who described this disorder by three patient, which showed similar characteristics such as: stiff, jerky gait, absent speech, and excessive laughter and seizures. Angelman syndrome is a severe intellectual disability resulting in ataxia (movement and balance difficulties), epilepsy, behavioral uniqueness, mental retardation, and severe speech impairment. The occurrence of this genetic disorder is approximately 1/20,000 births. The disorder is categorized as a neurodevelopment disorder as it affects primarily the nervous system. Patients have been described as having an angel-like demeanor as they are frequently smiling and/or laughing; the patients have a very happy and excitable personality. Exterior qualities recognized are the following: having light skin, reduced retinal pigment, low hair bulb tyrosinase activity, and incomplete melanization of melaonsomes. Typically newborns will not show abnormalities in the phenotype. Starting around the age of six months parents will start to see developmental delays in their child. The clinical features as mentioned above do not

ABS is the cause of many miscarriages, the most common reason is when the umbilical cord is constricted by ABS(17). It is believed that approximately 178 of every 10,000 miscarriages that occur are due to the development of ABS (Amniotic). If the band wraps around the umbilical cord that supplies blood and nutrition to the developing baby, it can cause intrauterine growth retardation (Amniotic). In serious cases, this may lead to fetal death. Children most severely affected have deformities that cannot be repaired. These deformities will eventually lead to death (Amniotic).

In fact, three women had disease that could not easily be excised and thus could not be histologically confirmed; one patient had extensive endometriosis that could not be resected at all, and two others had cul-de-sac disease that could not be biopsied. In

Chronic drainage and discharge, vaginal scarring, puncture of the bladder, bowel and intestines, and recurrent pelvic organ prolapse are also occurring for many women. In some cases, the problems require multiple surgeries to correct, if they can be corrected at all.

It is important to understand that these risks are rare and that some of these risks are associated with child birth. What matters is that you are aware that these risks exist as you strive to make an informed decision about your pregnancy.

Brittany is a 22yo, G5 P3013, who is currently 32 weeks 5 days. She is followed in the High Risk Obstetrical Clinic secondary to a history of Subutex use. Notably, she has had appropriate growth but at her last scan 4 weeks ago the amniotic fluid was low-normal at 8.2 cm. She is attempting to wean her Subutex and is doing quite well. She has had some decreased fetal movement recently, although she is able to obtain movement counts. She also complained of some possible leaking. She has not had any large gushes but has noticed that she needs to wear a pad throughout the day due to potential leaking.

Angelman Syndrome is a rare disease that affects one in every 20,000 children. The disease used to be known as “happy puppet syndrome” because children that have it have happy moods and their gestures look like a puppets. However, the only name that is used for the disease today is Angelman Syndrome or AS. This disease is caused by a mutation in chromosome fifteen. It is disease that should be taken very seriously.

Angelman syndrome was first described in the 1960’s as “happy puppet syndrome” by Harry Angelman, a pediatrician.3 This genetic disorder is characterized by severe developmental delay, seizures, hyperactivity, uncontrollable laughing and smiling, ataxia, speech delays, and sleeping disorders.4 Phenotypical characteristics that are a concern for anesthesia include microcephaly,

According to Kliebert, “Bacteria (germs) from the vagina or cervix may enter and cause an infection” (Kliebert 1). In Abortion and Pregnancy Risks, also states that health issues can occur from incomplete abortions (Kliebert 1). Kliebert says, “Fetal parts or other products of pregnancy may not be completely emptied from the uterus, requiring further medical procedures” (Kliebert 1). How can someone be okay with aborting their baby and not even know if everything from the child is out of their uterus? Another complication that may be related to abortion could be a cut or or torn cervix. Kliebert says, “ The opening of the uterus may be torn while it is being stretched open to allow medical instruments to pass through and into the uterus” (Kliebert 1). Just think about having a abortion and during the process the medical doctor that is doing the procedure cuts the cervix. One last medical issue that can be caused from abortion could be perforation of the uterus wall. Kliebert mentions in her article that “A medical instrument may go through the wall of the uterus, which can lead to infection, heavy bleeding or both” (Kliebert 1). With this being said, surgery may be required to repair the uterine tissue, and in the most severe cases hysterectomy may be required (Kliebert 1). Instead

Angelman Syndrome is a hard disease affecting the nervous system. It is a lot of work to go through to have this syndrome. This disease is another story.

There are many diseases and syndromes that occur in the developmental stage of human development. One of the many syndromes is Angelman syndrome. When this syndrome was first discovered by Harry Angelman, it was known as “happy puppet syndrome”. This syndrome is not typically diagnosed at birth, but can also be diagnosed from the ages of one to six. This syndrome is a neuro-genetic disorder that occurs in one in 15,000 people. Because of its rareness, this syndrome is often misdiagnosed as autism or cerebral palsy. Make thesis- Angelman syndrome is caused by a defect in the UBE3A gene, has various symptoms, that can be misdiagnosed, and patients will live with lifelong treatment.

Endometriosis is a disease that has an effect on over six million women and girls in the United States alone, over one million women in Canada, and several million more around the world. Endometriosis is known to be a chronic and painful affliction of the tissue surrounding the uterus, normally found in the abdomen, inside of the fallopian tubes, often located on the ovaries, covering the supporting ligaments around the uterus, on the lining of the pelvic cavity, or can be found in the perineum. Although these are the normal physiological locations for Endometriosis, it can also affect the bowels, bladder, cervix, vulva, bladder, vagina, and is often associated with surgical scars found on the abdomen. The most clear indicator of endometriosis is pain associated with the abdominal area.

The characteristics typical of Angelman syndrome derive from the "loss of function of a gene called UBE3A" which is derived from the mother (Stรถppler 2012). "People normally inherit one copy of the UBE3A gene from each parent" and both are activated in most of the body (Angelman syndrome, 2011, Genetics Home Reference). However, "in certain areas of the brain...only the copy inherited from a person's mother (the maternal copy) is active...If the maternal copy of the UBE3A gene is lost because of a chromosomal change or a gene mutation, a person will