Category: Disease

Introduction

The future of America lies within the hands of todays youngsters, but there are some serious concerns regarding where these youngsters might take us. Youth gangs, along with the problems associated with them, are growing in many American cities. Children growing up in substandard neighborhoods often perceive that the only protection they have from gang activity is by joining one, an instinctual decision based on self-preservation. The inherent need of children and adolescents to be included as valued members of society, as evidenced in their intense concentration on creating bonds with their communities, can be used to help lead them into more productive fields that will not only benefit them as individuals but can work to benefit society as a whole as well.

Joining a gang

Children typically join a gang young, often when they are only 12 or 13 years old. Although the demographics of gang members remain somewhat skewed toward the male gender, several girls have opted for membership in the gangs as well (Curry & Decker, 1998, p. 37). The switch from a production economy to a consumption economy has left a vast number of the populace on the have-nots side of the fence, contributing to the feelings of inadequacy among those who live in impoverished areas and exclusionist perceptions among the elite, including the politicians. The result of this switch has been a rash of public policy that works to support and secure the wealthy while providing little help or incentive for the unskilled worker that is unqualified to meet the new service-oriented employment positions. Rather than choosing to starve on unskilled labor wages, typically at or below the minimum wage through such short-cuts as contract work and temporary employment, many gang members are choosing to remain members as a permanent lifestyle choice, effectively making the gang itself a major ghetto employer and the process of climbing the company ladder one of the increasingly violent, dangerous and/or illegal activities (Hagedom, 2001, p. 157). Youngsters coming into this gang atmosphere see the success and prestige of their older members and are encouraged to follow in this same path as an alternative to the impoverished and isolated form of existence they experienced with their parents and their parents experienced all their lives.

Societies Disease

Given little hope, little love, little acceptance, and little opportunity, children experiencing significant risk factors such as family violence, poverty, and alienation from the rest of society frequently can find no other options to fulfilling their basic human needs than joining the inner-city gangs. Because of the prevalence of these types of conditions, the gang phenomenon has now spread through the large cities out to the suburbs and even into rural areas. While most of society works to create wealth for themselves while believing those less fortunate should fend for themselves are ultimately harming young inner-city kids, society as a whole, and themselves as well. Society should demand that educational, vocational, and family programs are publicly funded and readily accessible to those individuals living in poverty. Through this type of system, young members of the community may be persuaded to follow a more beneficial path. More economic opportunities for youths lead to fewer joining gangs and thus fewer hurting others of society. Providing for the needs of the poorest of those is truly giving to oneself, a simple concept that those blinded by vanity and greed cannot see.

References

1. Curry, G.D. & Decker, S.H. Confronting Gangs: Crime and Community. Los Angeles, CA: Roxbury, 1998.
2. Hagedorn, J.M. Gangs and the Informal Economy. Gangs in America III. R. Huff (Ed.). Beverly Hills, CA: Sage, 2001.

Abstract

The Gaucher disease type 1 category is a genetically related complication in which there is an automatic recession in the way lysosomes store some important gene enzymes. This abnormality is mainly caused by the slow or sometimes dormant reactivity of the genetic chemical substance called beta-glucocerebrosidase. The latter is normally expected to maintain its activity level in order to be able to reduce the accumulation of fatty substances. In essence, glucosylceramide would often build up in between body cells. If this build up persists for sometime, there is a higher probability that the persoin question may sooner than later be diagnosed with the early symptoms of Gaucher disease. Total rectification of the enzyme abnormality in fibroblasts to those individuals who suffer from the latter condition has been medically evaluated to be possible. This has been carried out in vitro whereby the specific GBA genetic make up is transplanted. In addition, the basic hematopoietic cells deficiency of this important gene can also be medically ratified by retroviral transplant of the necessary genetic cells. Furthermore, the gaucher diseases can be diagnosed through classical means through chemical analysis of the abnormal disposition of the mutated genes.

Disease diagnosis

Gaucher disease type 1 can be recognized by quite a number of symptoms which is usually associated with it. To begin with, there is eminent weakening of the general body structure (Beutler & Grabowski 2001). This may manifest itself through the skeleton which gradually diminishes in strength as well as rigidity. Patients who suffer from this condition may experience a generally frail body similar to fatigue which its cause cannot be explained. Moreover, there are other major body organs which may be diagnosed with Gaucher disease. For instance, spleen and liver are often elongated beyond normal size. This abnormal length of either spleen or liver may lead to a secondary condition which is can now be identified physically. In most cases, patients whose spleen and liver have been stretched beyond the expected size may equally suffer from pot bellies.

Besides, another physical manifestation of Gaucher disease can be observed right in the eye of the patient. There is usually a thick spot on the eye. This deposit is made up of fats which happen to accumulate at one point on the eye. Furthermore, patients suffering from this abnormal condition may have iron deficiency in their blood which leads to anemic condition as well as a demeaning number of platelets. White blood cells in the blood sample of the patient also drop significantly (Tayebi et al. 2001).

Gaucher disease can also be diagnosed classically. A chemical procedure which involves the analysis of any possible deposit from urine which has been sampled for a period of one completer day is conducted. This urine sample is then checked against the presence of gluccocerebroside. The latter can then be recognized by the unusual and rather awkward positioning of the lethal cells of the disease. Moreover, the quantity of a certain chemical component in white blood cells can be used to determine the availability of Gaucher cells. Lastly, a classical application of X-ray or MRI scans can be used to detect the disease (Beutler & Grabowski 2001).

Etiology

Gaucher disease etiology refers to the various possible causes or origins of the condition. In this regard, it is imperative to note that the main cause of Gaucher disease lies within the recessive behaviour in which the human GBA genetic make up undergo some form of cell damage or mutated. The mutation process is self regenerative. Once this condition prevails in a prospective patient, it implies that the mutated or damaged gene will not be in a position to produce a chemical component called beta-gluccocerebrosidase (Neudorfer et al 1986). This substance has an enzymatic property which makes it suitable as well as capable of emulsifying fatty products which would otherwise accumulate and precipitate the initial conditions of the gaucher disease.

Case study

The medical treatment of Gaucher disease has taken different approaches in the past a few years. Being a genetically related disease, it can be transmitted from the parent to the offspring or within a family tree.

In the treatment of this disease, several proposals have been put forward. For example, complete detachment of the affected organ has been recommended and implemented as well. A case in point is spleen which can be removed from the body of a patient. Better still; the affected elongated liver which may have failed to work can be transplanted. In spite of this possibility of a liver transplant, there are a myriad of ethical issues surrounding this medical practice which spans from who can donate the organ for transplant and whether the donor partner is to be considered for due financial compensation (Neudorfer et al 1986).

In cases where the Gaucher patient has undergone gross blood lose, blood transfusion from a compatible donor has been recommended. This is important because insufficient blood may inevitably lead to anemic condition thereby aggravating the ordinary condition of the disease. Meanwhile, a weak skeleton resulting from gene mutation an be treated by treating the target bones. Besides, the paining joint can be operated upon so as to reduce the level of pain alongside restoring the obsolete and dysfunctional parts of the bone. In many cases, joints and pains which emanate from bones may be exacerbated by other factors like deficient mineral quantity in bones. In such cases, oral suspensions containing nutrients rich in calcium can be administered to patients.

A case study concerning gaucher disease was carried out among different groups in order to establish whether the knowledge on this disease has resulted into new ways of recognizing it. Through testing the genes of each target group namely some ethnic groups among Africans, Jews and Swedish people as well as expectant mothers, the medical experts have been able to explore deeper and identify the risk factors as well as other intrinsically cognitive diagnoses of the gaucher disease. On the same note, substantial knowledge on this disease has resulted into streamlined and better methods of treatment (Lovell et al. 2006). A case in point is the fact that therapeutic processes involving genetic study of the gaucher disease has elicited more pragmatic hope on the better and improved treatment of the disease. Indeed, there is light at the end of the tunnel than before.

Conclusion

In summing up this paper, it is imperative to underscore some key points. Firstly, the gaucher disease originates when there is reduced autonomic damage of the gene which usually produces an enzyme called glucocerebrosidase that emulsifies fatty compounds from the human biological system. Once these fatty substances are not eliminated and consequently accumulate on one spot, it inevitably leads to symptomatic etiology of the gaucher disease. Secondly, the disease can be treated using both modern and classical medical options available like X-ray scans and so on. Finally, enhanced knowledge on the disease has simultaneously led to better methods of diagnosis and treatment.

Reference List

Beutler E and Grabowski G.A (2001). Gaucher disease, in: C.R. Seriver et al. (Eds), Metabolic and Molecular Basis of Inherited Disease, New York: McGraw-Hill.

Lovell B W, Winter B R, Morrissy T R and Weinstein L S (2006). Lovell and Winters pediatric orthopedics, Volumes 1-2(6^th Ed.). Philadelphia: Lippincot Williams & Wilkins.

Neudorfer O, Giladi N, Elstein D, Abrahamov T et al. (1986). Occurrence of Parkinson syndrome in type 1 Gaucher disease, QJM 89: 691-694

Tayebi N, Callahan M, Madike V, Stubblefield B.K, Orvisky E, Krasnewitch D, Fillano J.J and sidransky E (2001). Gaucher Disease and parkinsonian Manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to Parkinsonism? Mol. Genet Metab. 79: 104-109.

Introduction

Animal bodies contain chromosomes that carry DNA segments called genes. Genes are important, in that, in human beings, genes determine characterization. For example, genes determine the hair color, loftiness, and heaviness of human beings. Moreover, genes are paramount in establishing behavior patterns and personalities in human beings. Nevertheless, genes have one most imperative aspect; the capacity to pass on genetic disorders and diseases from one human being (parent) to another (offspring). Such diseases and disorders emanating from idiosyncrasies or incongruity in genes or chromosomes identify as genetic disorders. Biologically, genes are small building blocks that structure DNA, the fundamental entity of life. Thus, idiosyncrasies in genes, result in alteration of gene appearance. Consequently, diverse genetic modifications, for example, the union of two recessive genes, might lead to genetic diseases or disorders. On the other hand, direct contact with radioactive emissions and rays can lead to genetic disorders. Today, scientists have managed to discover more than 4000 genetic disorders affecting human beings worldwide. These genetic disorders fall into four major classes. The first class, single-gene disorder, occurs when there is a mutation within a single gene. Genetic disorders like hemophilia, cystic fibrosis, and sickle cell anemia fall into this category and can pass from parent top progeny. Other categories include chromosomal abnormalities, multifactorial and mitochondrial (mitochondrial DNA) mutations. The paper will examine hemophilia as a genetic disease.

Hemophilia: Description

Hemophilia is a genetic disorder of the blood. Normally, hemophilic patients blood fails to clot. If an injury occurs on the body leading to the cutting of the skin, hemophilic patients can bleed longer than non-hemophilic persons can. Scientific research shows that this genetic disorder can also lead to internal bleeding especially in the joints hence, destroying other body tissues or organs. Since hemophilia is a genetic disorder, it passes down the family lineage via genes. Persons having hemophilia lack the clotting factor (protein need), which will collaborate with platelets for blood to clot. The role of the clotting factor is to gum platelets together and bung the injury area. Thus, minus clotting factors, there is nothing to block the injured area to control blood from oozing out. Nevertheless, through injections with clotting factors, hemophilic persons can stop bleeding. Due to its dissimilar nature, scientists classify hemophilia into two types. The first type is hemophilia A where persons have nil or squat amount of clotting factors (F8). Interestingly, the majority of hemophilic persons, in fact, 90 percent, have hemophilia A. on the other hand, the second type of hemophilia is, hemophilia B, which is characterized by the absence or diminutively low levels of clotting factors (F9). (Dimitrios, Zaiden & Saduman, 2004, Para. 1-7)

Causes of Hemophilia

Without any further deliberation, a human being having hemophilia through inheritance was born with this genetic disorder. So many people do not understand the real cause of hemophilia. Nevertheless, hemophilia like any genetic disorder occurs when there is imperfection within genes vital in the production of blood clotting factors F8 and F9. The X chromosomes are the ones, which accommodate these particular genes. Coincidentally, there is no single chromosome but instead, chromosomes appear in twosome. Genetic research indicates that female human beings have one pair of X chromosomes. On the other hand, male counterparts boast a single X and a single Y chromosome. However, only genes contained in the X chromosome, recount to clotting factors. Male human beings are vulnerable to this genetic disorder in that, any gene idiosyncrasy in the X chromosome results in hemophilia. In contrast, the scenario is different in female human beings in that, it requires gene abnormality in the two X chromosomes to be hemophilic; cases that scientists term infrequent. Nevertheless, in a scenario where there is an anomalous gene in a female human being, then she behaves as a carrier. (U. S Department of Health and Human Services, 2009, Para. 1-5).

Nonetheless, this particular person is not in any danger as the remaining X chromosome contains clotting factors instrumental in blood clotting. The only disadvantage with her is that the genes can pass to her children. Under very rare occasions will a baby girl be born hemophilia. If it does happen, then the mother has carrier genes and the father is an automatic hemophilic. Sometimes, some females bear hemophilic male children even when they are not carriers. Genetic research shows that the genes might have undergone random change or mutation before transferring into this male child. The random change in the clotting factors F8 and F9 cause hemophilia A and hemophilia B respectively. (U. S Department of Health and Human Services, 2009, Para. 6-8).

Signs and Symptoms

The two main hemophilia signs and symptoms include effortless bruising and largely, excessive bleeding. Nevertheless, some hemophilic persons bleed excessively than others. This is because; there are persons who have mild hemophilia (less bleeding), and others have severe hemophilia, which results in excessive bleeding internally or externally when there the skin injures. Other signs of hemophilia include internal bleeding in the mouth, knees, elbows, and other jointed sites. Peculiar signs of hemophilia include blood in urine and stool because of bleeding in the kidney and intestines respectively. Unexpected nosebleeds and blood in the mouth even with a minor cut are clear signs of hemophilia. Continual vomiting, clumsiness, headaches, double vision, and convulsions can also be signs of hemophilia causing bleeding in the brain. (National Hemophilia Foundation, 2006, Para. 1-8).

History of Hemophilia

It was during the Babylonian Talmud when a biological reader and researcher, Rabbi Judah haNasi shed light on the existence of hemophilia. He worked on the idea that, if one circumcises his children one by one and they all die due to excessive bleeding, then there is a likelihood of hemophilia targeting along the family lineage. However, in the tenth century, Albucasis, a medical practitioner, associated families that loose male members because of excessive bleeding with hemophilia. Scientific analysis on hemophilia started in the 19^th century. A scientist from Philadelphia, Dr. Jon Conrad showed how hemophilia passes from parents to progeny by studying his folks. From his discovery, males were in great danger of inheriting hemophilia than females. In the mid-twentieth century, Harvard doctors, Taylor and Patek, came up with an anti-hemophilic globulin that acted as clotting factors. Ten years later, a medical practitioner from Buenos Aires, Pavlosky, performed a series of lab tests on blood samples and found out the two types of hemophilia; hemophilia A and hemophilia B. Additionally, he found out that, if two hemophilic persons exchange blood, the genetic disorder reverses, hence; different types of hemophilia. (Handin, Lux & Stossel, 2003, pp. 1167-1182).

Diagnosis of Hemophilia

Persons suspecting to have hemophilia along with their families should opt to go for medical examination. Doctors take blood samples to identify the level of clotting factors and the time or period, which blood takes to clot. Consequently, persons will understand whether they are hemophilic, and if so, its type and severity. After the test, persons with hemophilia A or B have mild, moderate, or severe hemophilia symptoms. This is because, the level of clotting factors, F8 and F9 vary from one person to another. Scientific research shows that, persons with mild and moderate hemophilia A or B exhibit similarities in bleeding. Luckily, babies born with hemophilia can diagnose one year after birth, unlike mild and moderate hemophilic persons who wait up to adulthood for doctors to carry out an effective diagnosis. Medical advancements have seen doctors carry out hemophilia tests on suspected hemophilia carriers, who happen to be expectant women, within the first ten weeks of pregnancy. In case of any danger, medics carry out a preimplantation diagnosis to free the child from hemophilia. (Ferrata Sorti Foundation, 2004, pp. 1036-1037).

Treatment of Hemophilia

Although a genetic disorder, medics can treat hemophilia by replacement therapy. Here, medical practitioners inject anti-hemophilic globulins rich in clotting factors F8 and F9 for hemophilia A and hemophilia B respectively. The concentrates manufactured from human blood, add to the missing or low levels of clotting factors within the X chromosome. Other treatments include an inoculation or nasal neuter of Desmopressin (DDAVP), a hormone that can reverse symptoms produced by mild and moderate hemophilia A. Unfortunately; this particular hormone is not effective in severe hemophilia A and hemophilia B persons. There are also other antifibrinolytic medicines, which treat hemophilia. For example, tranexamic acid or aminocaproic acid together with replacement therapy, can add clotting factors to X chromosomes and stop internal bleeding. (Roosendaal & Lafeber, 2007, pp. 603-605).

Prevalence in the U.S. and the World

Hemophilia persons can be found everywhere in the world. In the United States alone, there are over 18,000 people with hemophilia, and each year, doctors report 400 cases of born babies with this genetic disorder. It is quite clear that, since males have only one X chromosome, they are vulnerable to hemophilia than females who need abnormality in both X chromosomes for them to test hemophilia positive.

Reference List

Dimitrios, P., Zaiden, A., & Saduman, O. (2004). Hemophilia Overview. Web.

Ferrata Sorti Foundation. (2004). Molecular basis of von Willebrand disease and its clinical implications. Haematologica, 89 (9), 1036-1037.

Handin, I., Lux, E. Stossel, P. (2003). Blood: principles and practice of hematology. Philadelphia: Lippincott Williams and Wilkins.

National Hemophilia Foundation. (2006). What is a bleeding disorder? Web.

Roosendaal, G. & Lafeber, F. (2007). Prophylactic treatment for prevention of joint disease in hemophilia-cost versus benefit. New England Journal of Medicine, 357 (6), 603605.

U. S Department of Health and Human Services. (2009). What Causes Hemophilia? National Heart, Lung, and Blood Institute. Web.

Radiation results from the decay of unstable nuclei to give out particles that could destroy normal tissues leading to diseases such as cancer. Radioactive elements are referred to as ionizing radiations that can impact the chemical and physical traits of the molecules they are exposed to. Radiation comprises high-energy particles, containing alpha, beta, and gamma rays respectively. They have high energy with the ability to detach electrons from an atom in a process referred to as ionization, to cause biological harm. According to Wolfson (1993), the molecules are extremely active and when they are in living tissue, they could experience a chemical reaction to produce harmful effects. The human body contains organs with specialized cells that could be affected by these ionizing radiations.

High radiation doses might upset the cell processes and could be fatal. Worse still, when complex molecules such as nucleic acids and proteins are involved, they could break and be rendered dysfunctional (Wolfson, 1993). As a result, cell vitality and enzyme processes might be lost, which could lead to cancer and genetic mutations (Wolfson, 1993). Additionally, molecules present in living tissue are comprised of chemical bonds, which determine their composition and structure that could be modified by ionizing radiations. As a result, DNA could be altered to cause genetic mutations that could cause the cell to divide uncontrollably, and function abnormally depending on their sensitivity and consequently cause human diseases.

The time taken from exposure to carcinogens up to the detection of cancer is referred to as the latency period. The malignancy may manifest several years following the exposure to ionizing radiations. Usually, exposure quantity and latency, relate inversely since more dosage is related to a reduced latency while a low dose is related to an extensive latency. Generally, early detection is important and could be achieved through screening to control the metastasis as argued by DeVita (2008).

Leukemia for instance is a hematological neoplasm that involves the bone marrow, lymphatic system, and blood cells. It is marked by an upsurge of leucocytes in the blood. From research conducted by DeVita (2008), radiation-induced leukemia has a relatively short latency for malignancy to be detected. However, this varies with the irradiation dosage and may take as early as two years, following the initial exposure. The peak incidence could occur during four to eight years following exposure (DeVita, 2008). Leukemia results from DNA mutations through stimulation of oncogenes or the dissimulation of tumor suppressor genes. According to DeVita (2008), this interrupts the process of apoptosis and cell division. The normal blood cells are substituted with abnormal ones from the bone marrow and accumulate in the blood. This causes problems with blood clotting since the platelets are destroyed. Besides, the immune system is weakened since the white blood cells cannot effectively fight diseases. Anemia could also arise due to inadequate red blood cells that could lead to dyspnea (DeVita, 2008). Fatal radiation doses can be managed through bone marrow transplants to revive the formation of white blood cells or even through blood transfusions.

List of References

DeVita, V.T. (2008) DeVita, Hellman, and Rosenbergs cancer: principles & practice of oncology. Philadelphia, Lippincott Williams & Wilkins.

Wolfson, R. (1993) Nuclear Choices: A Citizens Guide to Nuclear Technology. Cambridge, Massachusetts, Massachusetts Institute of Technology.

Introduction

This research was motivated by the observation of a faulty mutant MYBPC3 gene copy causing a lethal heart disease in people who have inherited it. Since the nature of the disorder is genetical, it was assumed gene modification with the use of the Cas9 enzyme would allow for a complete prevention of the disease (Saey, 2017). The purpose of the project was to establish whether editing the genes of an embryo affected by the MYBPC3 mutation with the CRISPR molecular scissors would allow the organism to avert developing hypertrophic cardiomyopathy. The questions addressed refer to the ethics of gene modification in humans, the possibility of a major advancement in the prevention of all genetical diseases, and the further improvement of the methodology. The hypothesis of this research suggests that gene modification could potentially cease the occurrence of any genetical disease in humans.

Experimentation and Collection of Data

Researchers tested injecting sperm containing the flawed gene into healthy female eggs without the gene mutation. After that, they inserted the molecular scissors to modify the genes  the Cas9 enzyme, a chunk of RNA to designate the incision location, and a set of DNAs to instruct the recovery of the cut. Upon yielding insufficient results from the first attempt, the process was modified to have the Cas9 enzyme injected simultaneously with sperm in order to cut the defective gene.

Data Interpretation and Evaluation

The first attempt of the experiment resulted in 13 out of 54 injected embryos to still possess the mutant gene. However, the final step allowed the researchers to achieve a much higher quantity of corrected genes, with only one flawed embryo occurring. It was learned from this research that proper gene modification with the use of the CRISPR/Cas9 molecular scissors allowed the researchers to vastly reduce the number of mutant genes, increasing the chances of hypertrophic cardiomyopathy prevention (Saey, 2017). The main points of the research is the future study of the gene modification technology in order to permit its usage in humans and the potential medical advancement of preventing all genetical diseases. Lastly, the ethical question of editing a human embryo and introducing changes to it is also presented as a vital topic.

Reference

Saey, T. (2017). Molecular scissors fix disease-causing flaw in human embryos. Science News for Students. 

Introduction

The paper by Nipa and Allen (2020) focused on disease emergence in multi-patch stochastic epidemic models with demographic and seasonable variability. The investigation uses stochastic models in formulating variability that is both seasonal and demographic. Estimating a disease outbreak is through multi-type branching and application of backward Kolmogorov differential equation.

Description of the Problem

The study sought to solve the problem of infectious disease outbreaks. Some of the outbreaks are a result of seasonable changes, which have an impact on the transmission of pathogens. The paper focused on a multi-patch setting, especially when the movement between and transmission within patches are seasonal (Nipa & Allen, 2020). Other modeling studies have not focused on discrete patches that lack seasonal variations. The variables are time, number of initial infected individuals, and location.

0 < P_ext (i,T) < 1

P_outbreak (i, T) = 1  P_ext ( i, T)

Methods

ODE Multi-Patch Model

Among the methods is ODE Multi-Patch Model, which considers movement among individuals between patches. The model has computations involving susceptible and infected individuals, births, natural deaths and others related to diseases (Nipa & Allen, 2020). There is also the element of the patch, population size, and transmission and dispersal rates.

Time-Nonhomogeneous Stochastic Process

It is a process that bases its foundation on the ODE model. It works by ensuring random variables are discrete, whereas time is continuous. This can be further divided into Branching Process Approximation and Numerical Methods. Branching Process Approximation is applied to the states that are infected while ensuring the time-nonhomogeneous process is in use (Nipa & Allen, 2020). The changes are then observed, recorded, and analyzed. In regards to Numerical Methods, estimation of probability takes place through the use of a differential equation. Other methods include Two and Three Patches.

New Results

Nipa and Allen (2020) found that seasonability in dispersal and transmission impacts the time and place with a significant risk for an outbreak. For instance, if a high-risk area has an infection during a time of large transmission rate, there is a high probability of an outbreak and vice versa.

Possible Extensions

There should be further studies in additional stages or levels of infection, incidence rate involving mass action, and arrangements of patches and population densities that are dependent on patch, among other areas (Nipa & Allen, 2020). The studies will help in controlling viral infections such as COVID-19, MERS, SARS and others.

Reference

Nipa, K. F., & Allen, L. J. (2020). Disease emergence in multi-patch stochastic epidemic models with demographic and seasonal variability. Bulletin of Mathematical Biology, 82(12), 1-30.

DNA mutations modify a genetic codes meaning, leading to many congenital and acquired malformations. These genetic aberrations are multifactorial, and their effects range from mild to fatal. This discussion post reviews sickle cell anemia, an autosomal recessive disorder that emanates from substitution mutations in the DNA.

In this condition, the anomaly is in chromosome 11, whereby glutamic acid replaces valine at position 6 in the beta chain of normal hemoglobin (HbA), resulting in the formation of HbS (Inusa et al., 2019). Sickle cell anemia is clinically present when a patient has a homozygous mutation inheritance (Inusa et al., 2019). Hemoglobin S is abnormal and precipitates in red blood cells under specific conditions, thereby interfering with circulation. Sickle cell hemoglobinopathy involves reversible sickling of red blood cells during deoxygenation, dehydration, or acidosis. Under suitable conditions, sickle hemoglobin undergoes polymerization, leading to polymer rods forming within erythrocytes (Inusa et al., 2019). Sickle-shaped cells are less flexible than biconcave red cells; therefore, they increasingly cause blockage in the microcirculation.

Additionally, sickle-shaped cells increase blood viscosity and decrease tissue perfusion (Inusa et al., 2019). Sickle cell anemia occurs when most red cells with HbS undergo hemolysis. According to Inusa et al. (2019), erythrocytes with HbS are more fragile and susceptible to destruction than RBCs with HbA. A pathognomonic feature of this disease is the relative protection of patients against malaria associated with Plasmodium falciparum (Inusa et al., 2019). Faulty RBCs leak nutrients essential for the parasites survival and are frequently destroyed along with the intracellular parasite, thus providing the patient with relative protection. Sickle cell anemia is a prevalent genetic disease; hence more innovative research on curative measures is needed to lessen its occurrence.

Reference

Inusa, B., Hsu, L., Kohli, N., Patel, A., Ominu-Evbota, K., Anie, K., & Atoyebi, W. (2019). Sickle cell disease: Genetics, pathophysiology, clinical presentation and treatment. International Journal of Neonatal Screening, 5(2), 20. Web.

Introduction

Glycogen Storage Diseases (GSDs) refer to metabolic disorders that affect glycogen metabolism. The condition is genetic and passed down to children by their parents, who can carry the flawed gene without having any symptoms. GSD primarily affects the liver and muscles since glycogen is mostly stored in the muscle tissue and the liver.

Background

GSD is an uncommon genetic condition resulting from enzyme problems. According to Cleveland Clinic (2019), this disease occurs in one in 20,000 to 25,000 babies (para. 7). The most common types among the 13 known types of this disorder include:

• type I (von Gierkes disease);
• type II (Pompes disease);
• type III (Forbes-Cori disease);
• type IV (Andersens disease) (Cleveland Clinic, 2019).

Cause and Symptoms

GSDs occurs when the body lacks an enzyme required for the proper use and storage of glycogen or when such an enzyme is flawed. The most common type of GSD, von Gierke disease, is a result of G6PC gene mutations (Nyhan & Hoffmann, 2020).

The common signs of the disease include hypoglycemia (low blood glucose level), an enlarged liver, slow growth, weak muscles, and abnormal blood test results (Hannigan & Field, 2018). However, the symptoms vary based on different GSD types and body parts affected.

Description of the Biochemistry Behind GSD

Glycogen metabolism includes two metabolic pathways: glycogen synthesis and breakdown, essential to maintain the required blood glucose levels in the body. In people with GSDs, these pathways are affected due to the abnormalities or deficiency of enzymes controlling the synthesis and degradation of glycogen (Ellingwood & Cheng, 2018). Figure 1 demonstrates glycogen metabolism pathways and illustrates that glycogen breakdown results in the production of glucose-1-phosphate and glucose.

Treatment

Similar to other genetic diseases, GSDs are incurable, and the treatment includes maintaining the appropriate glucose levels to prevent hypoglycemia. Patients take uncooked cornstarch and nutrition supplements and are advised to take small frequent meals (SzymaDska et al., 2021). A liver transplant might be needed in case of Andersens disease (type IV), resulting in liver failure or cirrhosis.

References

GSD Cleveland Clinic. (2019). Glycogen storage disease (GSD). Web.

Ellingwood, S. S., & Cheng, A. (2018). Biochemical and clinical aspects of glycogen storage diseases. Journal of Endocrinology, 238(3), R131-R141. Web.

Hannigan, S., & Field, S. (2018). Inherited Metabolic Diseases: Research, Epidemiology and Statistics, Research, Epidemiology and Statistics. CRC Press.

Nyhan, W. L., & Hoffmann, G. F. (2020). Atlas of inherited metabolic diseases (4th ed.). CRC Press.

SzymaDska, E., Józwiak-Dzicielewska, D. A., Gronek, J., Niewczas, M., Czarny, W., Rokicki, D., & Gronek, P. (2021). Hepatic glycogen storage diseases: Pathogenesis, clinical symptoms and therapeutic management. Archives of Medical Science: AMS, 17(2), 304-313. Web.

Introduction

The causal factor for Tay-Sachs disease is a genetic mutation occurring in the HEXA gene (Yerramilli-Rao, Giannikopoulos, Kublis, Pan, & Eichler, 2012). Genetic mutations represent a lasting modification in the DNA chain that forms the gene; this results in the malfunction of one or many progressions in a persons body. Tay-Sachs disease is an unusual and often lethal genetic problem that leads to the continued devastation of the nervous system.

In most instances, signs and symptoms start appearing prior to a baby attaining the age of six months. After falling ill, the development of such babies holds back, and they steadily lose their capability to move. The highly identifiable early signs encompass red spots surfacing close to the center of the eyes and the baby being exceedingly troubled by abrupt noises. Such children then start having problems, for instance, weakness of the muscles, seizures, and the loss of sight and ability to hear. The majority of the babies who develop the disease pass away before their fourth birthday. Other less common types of the disease might show in later life, such as in childhood or in the course of adulthood. Such forms of the disease often progress slowly though they could also be fatal.

Signs and Symptoms

Infantile Tay-Sachs

Infantile Tay-Sachs disease is identified characteristically in infants at about six months of age where they display an abnormally strong reaction to abrupt noises or other stimuli, referred to as the startle retort attributable to the manner in which they become frightened. There could as well be the tautness of muscles (being hypertonic) or listlessness (Nakamura et al., 2015). The disease is grouped into different types, which are distinguished by the age of the commencement of neurological signs.

Studies affirm that in most instances of Infantile Tay-Sachs, babies start showing noticeable signs when they are at the age of about three to six months. Amid the earliest identifiable signs of the disease is the emergence of a red spot in the middle of the eyes. It could be as well easy to realize that the vision in such children deteriorates, and they start being greatly startled by movement and rackets. It is probable for such babies to become very slow in attaining developmental stages, for instance, learning to creep.

Devoid of some minor signs, infants who have the condition seem to grow in a normal way until their sixth month. However, severe signs and symptoms normally become evident when the baby is approximately eight months old and can speedily turn lethal. After eight months, neurons start swelling with ganglioside molecules resulting in a relentless worsening of physical and psychological functions. The baby could then lose sight and hearing ability, find it impossible to swallow, and become paralytic and wasted (Stendel et al., 2015).

At this point, the progression of the disease happens fast, and the affected children usually die by the age of four or five years. In the case of emergency symptoms such as seizure and difficulty in breathing, parents or guardians are advised to take the baby to the emergency room or call the doctor immediately. The major symptoms of Infantile Tay-Sachs encompass the following:

• Red spots in the eyes (the section close to the middle of the retina);
• Sluggish growth;
• Enhanced startle reaction;
• Weakened strength of the muscles;
• Seizure;
• Stiffness of the muscles (hypertonia);
• Slow psychological and social advancement;
• Loss of muscle operation or paralysis;
• Loss of sight;
• Deafness.

Other Types of Tay-Sachs

Apart from the Infantile Tay-Sachs, there is also the Juvenile Tay-Sachs, Chronic, and Adult/Late-onset Tay-Sachs (Aronson & Volk, 2013). The three conditions are rare although they have a tendency of being mild in lethality. Before 1980, the time that the molecular occurrence of the ailment was identified, the Juvenile and the Late-onset types of Tay-Sachs were not majorly accepted as forms of the condition; varieties of the malady occurring after infancy were usually misdiagnosed. The fatality of the symptoms, as well as life expectancy, in the dissimilar forms of Tay-Sachs, differs.

Juvenile Tay-Sachs Disease

This form of the disorder is uncommon and is often initially apparent in children from two to ten years of age (Aronson & Volk, 2013). Individuals with Juvenile Tay-Sachs usually start experiencing cognitive and motor capacity worsening, ataxia, hypertonia, speech disorder, and dysphagia. In most instances, the individuals having the Juvenile type of Tay-Sachs characteristically show the signs and symptoms from the age of two years. In this condition, the person usually passes away between the age of 5 and 15 years.

Chronic

The signs of the chronic type of Tay-Sachs may start at some point between babyhood and the time a child attains ten years of age. Following the development of the symptoms, the progression of the condition happens gradually. Whereas this condition of Hexosaminidase A insufficiency could result in a range of movement challenges, the decline of verbal proficiencies and thinking ability have a tendency of occurring later when judged against the Juvenile Tay-Sachs (Whitley, Diethelm-Okita, & Utz, 2013). The signs and symptoms of the chronic form encompass inaudible communication, spasm, and tremors.

Adult/Late-Onset Tay-Sachs Disease

The Adult/Late-Onset condition is often the rarest, and its first signs occur from the age of thirty to forty years; this condition is mostly misdiagnosed. Contrary to the other forms of the condition, the Adult-Onset Tay-Sachs is often nonlethal since the progress of the disease may come to a halt. The Late-Onset Tay-Sachs is typified by unsteadiness of pace, as well as gradual neurological worsening (Deik & SaundersPullman, 2014).

Some of the signs and symptoms that may characteristically start developing in early adulthood or sometimes adolescence encompass swallowing and communication setbacks, instability of gait, muscle spasm, cognitive challenges, and psychiatric problems. Adult-Onset Tay-Sachs is the mildest condition, and the affected individuals could turn out to be permanent wheelchair users when the condition worsens. Individuals with Late-Onset Tay-Sachs often have the following signs:

• Loss of reminiscence;
• Inaudible speech;
• Tremors;
• Unstable pace;
• The frailty of the muscles.

Conclusion

The causal aspect for Tay-Sachs disease is genetic mutation arising in the HEXA gene, which results in the malfunction of one or many processes in a persons body. Babies who develop Infantile Tay-Sachs start having problems, for instance, weakness of the muscles, spasms, and the loss of sight and capacity to hear. Most babies who develop the disease pass away before attaining four years of age. Other less common types of the disease, Juvenile, Chronic, and Adult-Onset Tay-Sachs, might show in childhood, adolescence, or in the course of adulthood. Such types of diseases often develop slowly though they could also be deadly.

References

Aronson, S. M., & Volk, B. W. (Eds.). (2013). Cerebral sphingolipidoses: A symposium on Tay-Sachs disease and allied disorders. Amsterdam, Netherlands: Elsevier.

Deik, A., & SaundersPullman, R. (2014). Atypical presentation of lateonset Taysachs disease. Muscle & Nerve, 49(5), 768-771.

Nakamura, S., Saito, Y., Ishiyama, A., Sugai, K., Iso, T., Inagaki, M., & Sasaki, M. (2015). Correlation of augmented startle reflex with brainstem electrophysiological responses in TaySachs disease. Brain and Development, 37(1), 101-106.

Stendel, C., Gallenmüller, C., Peters, K., Bürger, F., Gramer, G., Biskup, S., & Klopstock, T. (2015). Paranoid delusion as lead symptom in two siblings with late-onset TaySachs disease and a novel mutation in the HEXA gene. Journal of Neurology, 262(4), 1072-1073.

Whitley, C., Diethelm-Okita, B., & Utz, J. (2013). A longitudinal study of hexosaminidase deficiency (TaySachs disease, Sandhoff disease). Molecular Genetics and Metabolism, 108(2), 98-99.

Yerramilli-Rao, P., Giannikopoulos, O., Kublis, K., Pan, J., & Eichler, F. (2012). The natural history of Late-Onset Tay-Sachs disease. Molecular Genetics and Metabolism, 105(2), 67.

The Chromosomal Analysis

The chromosomal analysis of sickle cell disease is focused on beta-globin mutations. The disorder is provoked by the abnormal beta-globin alleles that are transmitting the sickle mutation on the hemoglobin subunit beta, or HBB gene (Glu6Val, ²S) (Ware, de Montalembert, Tshilolo, & Abboud, 2017). Sickle cell disease is an inherited disorder, the most severe type of which is homozygous HbSS, or sickle cell anemia (Ware et al., 2017, p. 1). Sickle cell anemia occurs in case if a child inherits ²S from both of the parents. Under such circumstances, the pathological sickle hemoglobin tetramer is being formed (±2²S2, HbS) (Ware et al., 2017). Other kinds of the disease are represented by compound heterozygous conditions:

• hemoglobin C (HbC) with HbS (HbSC);
• HbS with ²-thalassemia (HbS/²0-thalassaemia or HbS/²+-thalassaemia);
• HbS with other beta-globin variants such as HbSD or HbSOArab (Ware et al., 2017, p. 1).

Each of these forms expresses enough HbS to provoke intracellular sickling. When a child inherits both HbA and HbS, he or she acquires a condition called sickle cell trait. Although it is not officially a form of sickle cell disease, it may be related to negative health outcomes (Ware et al., 2017).

The Causes of the Disorder

Sickle cell disease is generated by abnormal erythrocytes with the shape of a sickle. As a result of these erythrocytes obstruction of the flow of blood in small vessels, a person may develop inflammation or distal tissue ischemia (Ware et al., 2017). Sickle cell disease is an inherited illness. The complications include anemia, organ damage, meningitis, and hypoxia (Ware et al., 2017).

Origin of the Disorder

Sickle cell disease has a single gene inheritance (Ribeil et al., 2017). The disease is caused by a homozygous missense mutation in the beta-globin gene that leads to polymerization of hemoglobin S (Ribeil et al., 2017, p. 848). Beta-globin is one of the elements constituting hemoglobin. Hemoglobin contains two alpha-globin subunits and two beta-globin subunits. Mutations in the HBB lead to the creation of different forms of beta-globin. One of HBB gene mutations provoke an abnormal type of beta-globin called hemoglobin S. In individuals with sickle cell disease, hemoglobin S substitutes the minimum of one beta-globin subunit.

Sickle cell disease belongs to the most frequent inherited monogenic illnesses (Ribeil et al., 2017). This condition was the first to have the molecular basis established: a single amino acid substitution in adult ²A-globin (Glu6Val) stemming from a single base substitution (A’T) in the first exon of the human ²A-globin gene was explored in 1956 (Ribeil et al., 2017, p. 848). Sickle hemoglobin decreases the ability of red cells to deform through polymerization on deoxygenation (Ribeil et al., 2017). People suffering from sickle cell disease frequently experience vaso-occlusive crises that cause irrevocable damage to organs, low quality of life, and decreased life expectancy (Ribeil et al., 2017).

There is only one illness-modifying therapy accepted for sickle cell disease  hydroxyurea that can increase fetal hemoglobin amount in some people (Ribeil et al., 2017). The only curative choice is allogeneic hematopoietic stem-cell transplantation (Ribeil et al., 2017, p. 848). Still, only less than one-fifth of patients has a matched sibling donor (Ribeil et al., 2017). There is a high probability of reaching positive treatment results with the use of therapeutic ex vivo gene transfer into autologous hematopoietic stem cells (Ribeil et al., 2017, p. 848).

Considerations for Practice and Patient Education

There are some difficulties presented by the identification of pain as that of resulting from sickle cell disease (Matthie & Jenerette, 2015). Patients frequently complain of nurses insufficient knowledge of the illness and their inability to relieve the pain crises in a timely manner. As a result, it is crucial to develop a relevant care plan that would contain the most significant issues that should be known by nurses (Matthie & Jenerette, 2015). There are no objective signs of a sickle pain crisis, and every patients reaction to pain and coping techniques vary. Therefore, when creating a care plan, it is necessary to consult with patients as experts in their condition. It is crucial to arrange advocacy for patients because it will allow more efficient communication with medical workers (Matthie & Jenerette, 2015). With the help of care plans, nurses will be more aware of the peculiarities of the disease and will be able to give the most suitable care necessary for their patients to manage pain crises.

Another aspect of successful management of sickle cell disease is patient education and self-care (Matthie, Jenerette, & McMillan, 2015). As well as in any chronic condition, home management of the disease helps patients to prevent crises and relieve pain. The most significant aspects influencing patients level of self-care, as reported by Matthie et al. (2015) are social support, self-efficacy, and the number of years of education.

Patients should be instructed to contact their provider as soon as they notice any of the following:

• symptoms of a stroke: weakness in extremities, dizziness, difficulty speaking;
• signs of a heart attack: chest pain, vomiting, shortness of breath, discomfort in stomach, neck, or back;
• excessive tiredness;
• inability to think clearly;
• coughing up blood;
• hematuria;
• inability to cope with the pain (Sickle cell disease, n.d.).

The Gene Mutation of the Disease

Sickle cell disease is an inherited illness. The disease results from a single point mutation in the seventh codon of the beta-globin gene (Hoban et al., 2015, p. 2597). The most common characteristics of this condition are severe painful crises and anemia. Sickle cell disease is caused by a mutated variant of a gene that takes part in the production of hemoglobin  a protein the responsibility of which is carrying oxygen in red blood cells. When a person has two copies of the sickle cell gene, they have got the illness. When a person has only one copy of sickle cell gene, they have not got the illness but can pass it to their babies.

The mutation is called homozygous missense, and it takes place in the beta-globin gene (Ribeil et al., 2017, p. 848). As a result, hemoglobin S is polymerized, and it replaces at least of the four subunits of beta-globin (Ribeil et al., 2017). In order to reduce the detrimental impact of gene mutation leading to sickle cell disease, professionals work on the development of new therapeutic approaches. Sun and Zhao (2014) suggest the use of disease-specific patient-derived human induced pluripotent stem cells (hiPSCs) as a highly promising option for treatment of disorders induced by gene mutations (p. 1048). According to Sun and Zhao (2014), when the illness-causing mutations are corrected in place, patient-derived hiPSCs have the potential for renovating the functions of cells and acting as a renewable autologous cell source for the management of genetic illnesses (p. 1048). Therefore, sickle cell disease is caused by a single point mutation, and scientists are working on the development of relevant treatment methods to prevent the detrimental outcomes of the disorder.

References

Hoban, M. D., Cost, G. J., Mendel, M. C., Romero, Z., Kaufman, M. L., Joglekar, A. V., & Kohn, D. B. (2015). Correction of the sickle cell disease mutation in human hematopoietic stem/progenitor cells. Blood, 125(17), 2597-2604.

Matthie, N., & Jenerette, C. (2015). Sickle cell disease in adults: Developing an appropriate care plan. Clinical Journal of Oncology Nursing, 19(5), 562-268.

Matthie, N., Jenerette, C., & McMillan, S. (2015). Role of self-care in sickle cell disease. Pain Management Nursing, 16(3), 257-266.

Ribeil, J.-A., Hacein-Bey-Abina, S., Payen, E., Magnani, A., Semeraro, M., Magrin, E., & Cavazzana, M. (2017). Gene therapy in a patient with sickle cell disease. The New England Journal of Medicine, 376(9), 848-855.

Sickle cell disease. (n.d.). 

Sun, N., & Zhao, H. (2014). Seamless correction of the sickle cell disease mutation of the HBB gene in human induced pluripotent stem cells using TALENs. Biotechnology and Bioengineering, 111(5), 1048-1053.

Ware, R. E., de Montalembert, M., Tshilolo, L., & Abboud, M. R. (2017). Sickle cell disease. The Lancet, 390(10091), 311-323.