Hutchinson Gilford Progeria Syndrome Case Study

More than 80% of these births occur in low or middle-income countries. These countries have limited resources where priority tends to be given to combat high rates of infant and child mortality from infectious diseases and malnutrition (Weatherall, 2001). As a result, thalassaemia receive little

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.

2. Premature births can alter with the baby’s intellectual and developmental progression causing problem with the functioning of the baby’s brain. i. This can delay the baby’s physical and learning development, its ability to communicate with others, and with the ability to care for itself. ii. The baby can also have behavior problems, ADHD, Autism, Neurological disorders, hearing loss, and several other disabilities.

The causes of this disorder due to an autosomal recessive and a mutation in several genes involve the absence production of melanin. In some types of albinism, if each parent has one copy of defective gene there is a chance that each offspring will be an affected or a carrier. The signs and symptoms of Albinism are absence color (skin, hair, and eyes), lighter than a normal coloring (hair, skin and eyes), patches of skin that have an absence of pigment. The most common to diagnosed albinism by the used of genetic testing, it detects the defective gene that related in this disorder. Since the Albinism is no cure, treatment is for relieving the symptoms or preventing sun damage, they wear sunglasses with UV protection to protect their eyes from sun’s rays, protective clothing and sunscreen protection to protect skin from UV

Children born with thalassemia major are normal at birth, but develop severe anemia during the first year of life. Other symptoms can include: Bone deformities in the face, fatigue, growth failure, shortness of breath and yellow skin (jaundice).Severe thalassemia can cause early death (between ages 20 & 30 years)

Learning representative texture distribution V. EXPERIMENTAL RESULTS In this section, we explains comparison of the proposed TDLS algorithm and Otsu-RGB segmentation algorithm. The Otsu segmentation technique is tested on simple RGB skin lesion image. Figure 12 and 13 shows the results perform based on TDLS and Otsu-RGB segmentation algorithm. Image Otsu-RGB TDLS Figure 12: Experimental results

Chapter 1 INTRODUCTION A. BACKGROUND OF THE STUDY Chromosomal abnormalities which frequently cause physical and cognitive abnormalities for a child throughout life are usually evident at birth. Nondisjunction, deletion translocation, mosaicism, and isochrosome abnormalities are some of the various forms of chromosomal abnormalities (Hatfield, 2008). Nondisjunction is the most common type of chromosomal abnormalities which occur through uneven chromosomal division. During cell division of the cells reproduction, the 46 chromosomes should be divided into half having 23 chromosomes in each new cell. With the new cell having an extra or lacking chromosome, nondisjunction abnormalities occur.

It is not unusual for congenital causes of hypogonadotropic hypogonadism , such as kallmann’s syndrome, to be diagnosed in young adults. Prevalence of the syndrome worldwide and in indian population Kallmann syndrome occurs more often in males than in females, with an estimated prevalence of 1 in 30,000 males and 1 in 120,000 females. The prevalence of Kallmann’s syndrome is 1:10,000 to 1:60,000 with a male to female ratio of 5:1. Key Words : IHH- isolated hypogonadotropic hypogonadism Kal S- kallmann’s syndrome CASE REPORT : 19 year old male (DOB-19/7/1992), born of non-consanguineous marriage, presented as an outpatient case to surgical opd with chief complaints of absence of secondary sexual characters, unbroken voice, headache. Patient was referred to endocrine clinic at the same centre where further workup of the case was done with subsequent follow up.

gel electrophoresis, sequencing cloning (into a plasmid) etc. Identifying pathogens Limitations: There is a possibility that a mutation can occur which will also be replicated during PCR.

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.

FRAGILE X SYNDROME: A COMMON UNKNOWN GENE Everyday day babies are born with disabilities. A majority of these are surprises to the new parents. Conditions such as: Down Syndrome, sensory impairments and neurological disorders are known to most people but still not anticipated. Fragile X Syndrome is a gene mutation that affects thousands of people, making it important to know how the disorder changes the social and emotional aspects of a person’s development and life.

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.

Aarskog Syndrome Description Aarskog syndrome (also known as Aarskog–Scott syndrome, faciodigitogenital syndrome, shawl scrotum syndrome and faciogenital dysplasia) is a rare autosomal X-linked inherited disorder that affects a person 's height, muscles, skeleton, genitals, and appearance of the face. It mostly affects at birth and the symptoms usually become apparent by the age of 3years. Unfortunately, Aarskog syndrome is a lifelong condition without a cure. Some people with Aarskog syndrome are born with more serious abnormalities, such as heart defects or a cleft lip with or without an opening in the roof of the mouth (cleft palate). Most males with Aarskog syndrome have a shawl scrotum, in which the scrotum surrounds the penis.

3. Research Question and Objectives Our main objective is to design a web-based visual interactive software that can provide us a graphical interface for computer programming. Where basic general purpose programming facilities will be available like creation of modules, arrays and object orientation. Where we can achieve multitasking using threads and exception handling to catch exceptions.

The measuring levels of the immunoglobulins is one way of tracking the extent and progression of the disease. If the immunoglobin that is secreted from myeloma the normal immunogobulin will be suppressed. Liquid and solid bone marrow samples are examined under a microscope to test for myeloma. The smoldering multiple myeloma is a condition that involves the findings of abnormal plasma cells that produce a monoclonal protein, but no symptoms. Indolent multiple myeloma this type of myeloma have an elevated number of abnormal plasma cells in the bone marrow that may or may not produce monoclonal protein.