This disease affects about one in 1,000 females. Triple-X syndrome only affects females because the chromosomes that are affected by this disease are the sex chromosomes, 23rd chromosomes. Description of the Symptoms Triple-X syndrome is generally goes undiagnosed throughout the child’s life. Some symptoms are the child is taller than average, delayed speech, and learning disabilities. Some rare symptoms are premature ovarian failure, infertility, and seizures.
It is a genetic disorder that is inherited from both parents who are carriers of the disease. It is characterized by anaemia with small and pale red blood cells (hypochromic microcytic anaemia) due to reduced production of one or more globin chains in the red blood cells. The consequences are ruptured of red blood cells in the spleen (Fucharoen, 1987; Weatherall, 1997). The clinical severity of thalassemia varies greatly depending on the number of genes affected (Cornelis, 2010). Approximately 7.0% of the world’s population is thalassaemia carrier and an estimated 300,000 babies are born each year with this disorder.
In older children and adolescents with subtrochanteric femur fractures, surgical fixation has become the treatment of choice, because unsatisfactory radiographic alignment and limb length discrepancy frequently result from nonoperative treatment.4 Furthermore, prolonged traction and spica casting become increasingly difficult in older children and requirea longer in-hospital stay and return to ambulation.4 Several surgical treatment options have been described for pediatric subtrochanteric femur fractures, including intramedullary nailing with elastic or rigid nails, external fixation, and open reduction internal fixation.3–8 Although elastic intramedullary nailing has shown promising results, rigid nailing has been found to carry an increased risk for avascular necrosis of the femoral head in this patient population.4,6,8 Furthermore, given the high loads present at the subtrochanteric level, plating using constructs without angular stability frequently leads to limb length discrepancy and loss of reduction.4 Plate constructs with angular stability such as blade plates and locked plates have however been shown to yield satisfactory
The frequency of getting affect by Klinefelter syndrome is 1in 500 to 1,000 newborn males. Klinefelter syndrome isn’t inherited but occurs as random event during the formation of reproductive cells in a parent. SYMPTOMS AT BIRTH AND CHILDHOOD Birth: Small Penis Undescended
Rotational anomalies are one of the most frequent of embryonic malformations related to the digestive tract. The incidence of malrotation is ∼1:500 births and the symptomatic incidence is 1:6000 [1, 2]. Intestinal malrotation refers to incomplete midgut rotation and fixation in early fetal life and can consist of complete absence of rotation, incomplete rotation—less than 270—or inverse rotation. In most cases Malrotation can present with other congenital anomalies and It is typically diagnosed during the first year. We report a rare case of malrotation with LADD band presenting in an 11 year old girl accompanying intrinsic duodenal stenosis and annual stenosis.
2008, p. 50). ▪ The results of the study conducted by Gary M. Shaw, Suzan L. Carmichael, Zhanna Kaidarova, and John A. Harris of the Birth Defect Monitoring Program provided evidence that Spina bifida with hydrocephalus and Spina bifida without hydrocephalus are more prevalent in female fetuses. • Researchers of the study suggest that one sex is more susceptible to certain endogenous or exogenous factors during a critical embryonic time period (Shaw, et al. 2003, p. 957). o Geographic Factors: ▪ During 1999-2004, Hispanic infants in the Unites States had the highest prevalence of neural tube defects in comparison to Whites and Non-Hispanic Blacks (Boulet, 2008, p.
Abstract Background: Laparoscopic cholecystectomy has become the treatment of choice for symptomatic gallstones. Previous abdominal surgery has been reported as an absolute contraindication to laparoscopic cholecystectomy in early days of this technique but nowadays it considered as a relative contraindication. This study specifically investigate the effect of previous abdominal surgery on the feasibility and safety of laparoscopic cholecystectomy. Methods: This study included 120 well-documented patients with gallstones who underwent laparoscopic cholecystctomy at our surgical department between December 2008 and October 2012. The patients were classified into 2 groups: group A, patients without a history of previous abdominal surgery (n_90);
A RARE CASE: AN ADVANCED STAGE HEPATOCELLULAR CARCİNOMA PATİENT PRESENTED WİTH MULTİPLE SPLENİC METASTASES SUMMARY: Hepatocellular carcinoma is the most common primary liver tumor and it is one of the most common cause of deaths in patients with cirhosis. İt’s histopathologic diagnosis is difficult because biopsy usually couldn’t perform due to risc of bleeding. Clinicians especially diagnose it with radiologic and clinical parameters of patient. Splenic metastases are rarely conditions. But when its present we should make an examination for finding primary tumor.
After treatment, addition, new blood vessels may develop. The photodynamic therapy also aims to destroy the fragile blood vessels, but this is achieved by injecting a drug that adheres to the surface of said vessel, and subsequently illuminating the eye with a light that activates the drug. The activated drug destroys blood vessels only, without affecting healthy tissues. This treatment does not restore lost vision, but retards the progress of the disease. A recently developed a new treatment for macular degeneration with very good results in general (although there are people who do not respond to this treatment), which is based on the use of injections periodic anti-VEGF (vascular endothelial growth ), they are hindering the development of new vessels, which is the alteration that really worsens the prognosis of the disease.
Radiation therapy is not necessarily better than chemotherapy or surgery, as it has both benefits and risks. Instead, choosing the right treatment depends on the case of each individual patient. Chemotherapy, which utilizes drugs delivered to the entire body, prevents the cancer cells from spreading. On the other hand, surgery and radiation therapy target one specific area. Often times, patients will undergo chemotherapy or radiation therapy to shrink the tumor before getting surgery to remove it entirely.
This Neural tube defect is not as common, but it is one of the most severe cases. Each year, about 1,000 babies are affected. Anencephaly can occur when the top portion of the spinal cord doesn’t close all the way. That baby that is born with this will have little to no brain matter. The baby may be missing some of its skull, and will have birth defects of the head and face.
For the patient, this means fewer side effects. However, IMRT does require slightly longer daily treatment times. It also requires further preparation and planning and safety checks than traditional radiation therapy. How is IMRT used to Treat Mesothelioma? In mesothelioma, radiation therapy can be used after surgery to try and eradicate any small tumors that couldn’t be viewed and resected during surgery.
Duchenne muscular dystrophy is a form of muscular dystrophy that only affects boys. Cardiomyopathy is present in around twenty-five percent of patients at age 6, and increasing as age goes up to fifty-nine percent at age 10. At eighteen years of age over ninety percent of patients have Cardiomyopathy. There is no known cure available at this time; but there are treatments that include steroid administration, and assisted ventilation. The absent dystrophin in Duchenne muscular dystrophy is due to a frame shift in the gene.
Muscular Dystrophy Muscular dystrophy is a genetic disease or genetic disorder. Muscular dystrophy is when someone doesn’t have any muscle mass. In the article “Muscular Dystrophy: Causes, Symptoms and Treatments” it says that “The most common form of muscular dystrophy – Duchenne muscular dystrophy – typically affects young boys, but other variations can strike in adulthood.”(Tim Newman) Muscular dystrophy is when your muscles wear away and don’t really ever come back. In the same article it says that “Muscular dystrophy occurs in both genders and can strike at any age. However, Duchenne muscular dystrophy in the most common form and is most likely to occur in young boys.”(Tim Newman) Many people who have this genetic disorder usually walk on their toes and have trouble walking in general.
Neonatal nursing can become a very emotionally draining occupation to pursue. These nurses have to care for the babies that are born premature, or are at risk (Neonatal Nursing 2). Caring for babies that may not have a chance at life can be emotionally difficult. According to Pinfield, “A study showed that on average, each year 10% of babies are premature or have an illness that requires Neonatal care”. Pinfield also says that of all the infants that die before their first birthday, 70% die because they were born premature.