WEEK 4

ADOLESCENT PREGNANCY: EXPANSIVE PHENOMENON

http://www.excelsior.com.mx/nacional/2013/05/07/897807#view-5

WITHOUT WORK

Being women with a very young age, the vast majority of them is out of work when their children. In effect, the 11 thousand 527 cases of girls under 15 years who became mothers in the year 2011, only 812 had gainful employment; i.e., only 7% of them.

It is obvious that having a such a young age, their level of schooling is also very low; Thus, considering that up to 80% of these girls truncated his school career, it is expected that in the near future and in the long term, most go to confront extremely adverse conditions both in the workplace and in the academic.

In a similar case are adolescents who, at the time of the birth, had between 15 and 19 years of age, as 461 thousand cases of births recorded in 2011 in this age group, only 39 thousand 415 of these young people worked, i.e. just 8.35% of the total.

The data is noted, therefore having a short history of the school and almost zero work experience, the search for incorporation of these children and adolescents into the labour market is given in high risk conditions that shore, in thousands of cases, to accept conditions of informality, but in others of labour exploitation, and in extreme cases, to become victims of sexual exploitation or trafficking in persons.

Personal opinion

Unfortunately girls who became pregnant at his young age fail to finish his studies as primary and secondary basic although nowadays for any work already they ask for a high school and have come of age. many of these girls end up working in places where your payment is very little and too much time or many more do not work and only leave to their baby that's why we have to create awareness among them so that instead of becoming pregnant to achieve their goals and dreams and to see a better future, since everything has a time.

Andrea Martinéz Duran 

West Syndrome

The incidence of infantile spasms was between 0.25 and 0.4 per 1000 births. Children would be a little more affected than girls.
In 90% of cases, crises appear before one year of age, 10% before the third month. The maximum distribution is between the 4th and 7th month, more frequently in the 6th month. The later start (after 18 months), are nosological errors. A very early onset (before the third month) can be seen especially in the symptomatic forms.
In 9% of cases they were found a history of seizures and convulsions. It is strange (of 4 to 6%) the presentation of several cases of West syndrome in the same family. Transmission is autosomal recessive, rarely being linked to sex.

West syndrome is characterized by a symptom triad:
Infantile spasms that occur in salvos.
Impairment of psychomotor development.
A E.E.G. particularly intercritical: The hypsarrhythmia.
These three elements appear over several weeks in a child previously normal or already submitted crises or deficient neurological signs. In 85% of cases starts with spasms, sometimes with the arrest of psychomotor development. The layout may be missing hypsarrhythmic initially discovered or after the onset of spasms is well advanced. In typical cases, the syndrome set is completed in 4 to 6 weeks.

SEMIOLOGY OF THE CRISIS: The crisis in the West Syndrome have been called in several ways: flexion spasm, myoclonus Mass in flexion, Infantile Myoclonus, Lightning Seizure, Salaam Attack, Nodding Spasm or Blinking, Jerk of Infancy Epileptic, Blitz Krampf, Saalam Krampf, Nick Krampf and Propulsiv Petit Mal.
The clinical expression of spasms depends on the affected muscles and the duration of each spasm. The use of video methods has allowed a more detailed and rigorous analysis.

TYPICAL CRISIS. Much of the authors admitted that in most cases (68 to 80%) spasms occur in bending. They can be more or less extensive and affect the muscles of the neck, trunk and limbs; the child bends "as a razor to close": flexion of the head and trunk, upper limbs intertwine over the chest, lower limb triple flexion.

If the spasm is performed in extension (22.5% of cases), neck and trunk are extended and the members are placed in extension-abduction, separating crosshair. However, most often they are mixed-in flexion / extension-then pretending massive myoclonus.

ATYPICAL CRISIS. Often limited or frustrated in expression, risk being ignored or misunderstood: shake of the head, brief contraction of the abdominal muscles, lift your shoulders, simple adduction or adduction of the arms; more rarely spasm may be asymmetric (0.6%). Exceptionally crisis can be expressed by a akinesia and decreased reactivity (1%).

In general, a single child has several types of spasms.

Certain phenomena may accompany crises: ocular deviation (55%), respiratory distress (59.2%), abnormal heart rhythm. A cry or smile unmotivated conclude the crisis. Due to the short spasm, it is difficult to assess the level of consciousness; in the longer a temporary or atypical crises clouding supported.

If at the start of the condition spasms can be isolated, sporadic, preferably emergence or awakening during sleep, in the phase of state are characteristic saved (78.3% of cases). During a particular saved, the intensity and frequency increase progressively, to then decrease and disappear. They are favorable factors postprandial phase, a sudden noise or a contact.

PSYCHOMOTOR Regression: This is the second characteristic feature of the syndrome. Starts disease in approximately 15% of cases.

Its beginning is manifested by a modification of humor. In several days, the child falls into total indifference: loss of smile, reactions to sensory stimuli. Often the child is qualified deaf or blind, loss of facial expression and motor absolute immobility.

In the older child, selflessness extends to objects that are presented. This indifference, this lack of activity, sometimes give rise to stereotyped activities; more rarely, reactions of aggression or irritability are observed.

Then the impairment is confirmed, the child does not progress, it does not present any new acquisition. By contrast, activities that had lost at the start of his illness: he no longer feels not holding the head, he does not smile more ...

The loss of the most basic and widespread contacts sluggish own stigmas are an obvious regression if they occur in a child whose psychomotor development was already disturbing.

Diagnosis

The diagnosis is based on the triad of infantile spasms, impaired psychomotor development and EEG hypsarrhythmic.

In typical, complete forms, it is easy not done, because the clinical history and EEG rule out:

Misinterpretation of the parents, including doctors, spasm in flexion: flexion abdominal colic can simulate a child or an attempt to sit.

The Tic Sleep or Jactatio Capitis Night: lateral movements of the head, swinging, appearing in normal children during drowsiness or sleep.

The Spasmus Nutans, rhythmic oscillations of the head during the day, even in normal children.

The slow rhythmic swing of some deep backward (Tic Salaam).

Certain conditions must be differentiated West Syndrome:

Specific secondary generalized epilepsies can be expressed at the start by infantile spasms;

The Lennox-Gastaut syndrome, by the fact that the evolutionary continuation of some syndromes West, but its onset is later; there are others associated with those crises, like infantile spasms, where the EEG is different.

Certain conditions described recently seem more or less integrated within West syndrome. They are described at the end of this chapter.

Finally, Lombroso has described a benign myoclonic epilepsy of infancy. Crises are fully comparable to those of the West Syndrome but not altered mental state, EEG It is normal and crises disappear without sequelae before 2 years of age.

In my opinion it is vital that we as nurses know how to act in a case of West syndrome because it is a disorder uncommon but very traumatic for both the patient and the family because in this case it comes to young children besides all are sick, so we can understand their needs and meet them to provide better care to the patient.

Recovered  of http://www.apiceepilepsia.org/Sindrome-de-West-o-Espasmos-Infantiles on 23th november, 2015 at 18:35 by. Rebeca Guzman 2719140

Moya moya disease

Moyamoya disease (MS) is a vascular disease characterized by a progressive stenosis (until occlusion) of the terminal portion of both internal carotid arteries, which may include anterior cerebral artery (ACA) and medium (ACM) associated an abnormal vascular network called moyamoya vessels. It is a rare disease in children, so the aim of this publication is to put it in mind as a differential diagnosis in boxes origenvascular symptomatology, guiding the mind-directed study to your search. This becomes more important when you consider that is a progressive disease, which diagnosed early, can monitor your progress and avoid clinical deterioration that can be disabling, or even fatal consequences.

Takaku4 Susuki and in 1969 nominated this clinical entity, "smoke volcanoes" in Japanese, moyamoya, due to the appearance with angiographic images. Its etiology is still unknown, although epidemiological studies suggest genetic factors in its pathogenesis.

In children it is usually presented as transient ischemic attacks and strokes, with progression can be slow, with intermittent events, or fulminant with rapid neurological compromise. Diagnosis is based on clinical and radiological findings that show the characteristic internal carotid artery stenosis with abundant collateral vessels. The evolution without treatment is inevitably progression and clinical vascular compromise.

Cerebral revascularization surgery improves long-term prognosis, the various techniques described are intended to prevent ischemic damage greater increase collateral blood flow through the external carotid.

Below we describe our experience with two patients who were diagnosed with MS in Pediatric Critical Patient Unit of Clinica Santa Maria (UPCP-CSM) between January 1998 and December 2007. During this period have graduated 17 patients with stroke brain (AVE), a total of 5864 hospitalized patients, MS corresponding to 11% of stroke in patients between 15 days and 17 years, with an incidence of 0.2% per center per year.

Its etiology has not yet been clarified; There is growing evidence of the involvement of a genetic factor. It has been linked to several different genes located on chromosomes. D353050 reference to markers located in the 3p24.2-268 chromosome, D175939 chromosome 17q25, also in other parts of the same chromosome region contained in the 9-CM, D 175,785 to D1758369 is made, and on chromosome 6 in D6S44110. Polygenic inheritance autosomal dominant pathway low penetrancia11 is proposed. The family presentation, although it has been reported mainly in Japanese population, cases have also been reported in other parts of the world.12. The description of a G / C heterozygous genotype in position -418 in the promoter of tissue inhibitor of metalloproteinase 2 (TIMP2) could be a genetic factor predisposing to familial MS

Several studies of clinical, laboratory and pathological have tried to define its pathogenesis. It described an intimate thickened HERE samples of patients with moyamoya, techniques immune reaction suggestive of overexpression of factor-1 (alpha), inducing hypoxia and endoglinas in the intima of the ACM. Along with the aforementioned genetic factors, environmental factors also play a role, as suggested by Ulrich, who reports that 3.5% of children who had received radiotherapy for primary brain tumors, especially in the vicinity of the circle of Willis, developed MS in the follow-up, which was related more to those with type 1 neurofibromatosis and those receiving more than 5000 cGy of radiation. Other studies have been directed to seek soluble adhesion molecules in cerebrospinal fluid (CSF) of patients, suggesting an inflammatory process in the etiology of this enigmatic disease, that would be supported by the description of an MS by angiography in a 20- years, eight months after submitting a pneumococcal meningitis. It has also been associated with apoptosis, evidenced by the detection of activated caspase-3 (for technical immunoreaction) in the tunica media of the ACM with thinning of the vessel wall and the description of a high proportion of endothelial anticélulas serum antibody MS patients. On the other hand, publications that report the persistent trigeminal artery and the artery Bernasconi-Cassinari, both embryonic arteries, allowing suspect an early onset of the disease. 

In my personal opinion Moyamoya disease is a disorder that occurs in children, and causes various problems in the child's brain.

it is important that we know as nurses provide care to patients who suffer because it is very difficult to bring the symptoms for both parents and for the child.

Recovered of http://www.elenciclopedista.com.ar/enfermedad-de-moyamoya/ on 20th november, at 18:40 

By Rebeca Guzmàn

Genetic mutations: FRAGILE X SYNDROME

Genetic mutations: FRAGILE X SYNDROME

Concept

The fragile X syndrome (FXS) is the most common inherited genetic syndrome causing mental retardation and one of the best characterized forms of autism spectrum. It mainly affects men who have a characteristic phenotype and transmitted mainly by women. Its name is due to a narrowing of the distal end of chromosome X (Xq27.3) that appeared in the karyotype of affected individuals, and "fragile site" was called. In 1991, the gene responsible for this syndrome was identified, a fact which replaced the cytogenetic analysis as a diagnostic method.

Prevalence

The prevalence of FXS has been revised downward. Initial estimates of speaking of 1: 1250 affected males in the general population, has been passed to a prevalence of between 1: 4,000 and 1: 6,000. The figure for females is approximately half (1: 8000-1: 12,000). The prevalence of carriers in the population is about 1: 250 women, the relationship to the male carriers is 3: 1.

 

Genetic causes fragile x syndrome (fxs)

The genetic cause of FXS is a mutation or change in the normal sequence of DNA in the FMR1 gene, resulting in inactivation of the same and thus, lack of protein synthesis (FMRP) synthesizing.

The most common mutation involves elongation (expansion) of a small part of the sequence formed by repeating the nucleobases cytosine-guanine-guanine, which is called abbreviated CGG. This CGG triplet repeat is at the beginning of the gene, in an area that has no information for the protein it encodes, but rather had to do with his activity, in particular, that more or less copies of the FMRP protein is synthesized . This repetitive sequence typically contains between 6 and 55 CGG triplet repeats, the most frequent of 30 repetitions. But in Fragile X expansion in the number of CGG triplet repeats of this it occurs to be more than 200.

 Clinical feature:

The main clinical feature of FXS is mental retardation in affected males is moderate while in women it is slight. Other features that are usually present in most affected males are elongated face with prominent chin and broad forehead, large ears and detached, hypermobility (with increased mobility especially in small joints) and large testicles (macroorchidism) after puberty.

Other common physical findings are: large head (macrocephaly), abnormalities in the mouth, high palate and crowded teeth in the jaws, flat feet, hands with fingers flared at its distal end, heart murmur, strabismus (eye muscle hypotonic) , recurrent otitis, overweight or obesity, epilepsy and generalized hypotonic. In individuals with FXS clinical findings vary with age, in the case of joint laxity decreases with age, or the size of the testicles that usually normal until puberty.
in the first years of life, it delays in acquiring psychomotor functions, especially the language, which is subsequently manifests repetitive.
In the preschool may not be obvious physical traits that occur in later life. With age also become more evident ophthalmic, orthopedic, heart and skin problems. For women affected (full mutation) clinical findings are especially facial, but appear less frequently and are milder than in the case of men.
Recently it described two late onset subphenotypes related SXF. One appears especially in men with premutation (PM) between 50 and 60 years, is a multisystem neurological disorder with ataxia and intention tremor, why it was called Tremor-Ataxia Syndrome associated SXF (FXTAS, Fragile X-associated Tremor / Ataxia Syndrome).

Most frequent clinical manifestations:

Physical

• Long face with high forehead and prominent chin

• Large and protruding headphones Fields

• Joint hypermobility

• Large Testicles (macroorchidism) after puberty

• Squint

• Flat Feet

• Heart murmur (mitral valve prolapse)

• Thin skin

Intelligence and behavior

  • Intellectual Disability (mild to moderate)

• delayed onset of language

• Attention Deficit Hyperactivity Disorder

• Avoidance look

• Pseudoautista behavior.

Treatment

 The cause of the clinical manifestations of FXS is the lack of expression of the FMRP protein. At present, studies are underway for a possible molecular therapy to compensate somehow the lack of this protein. Treatment should be based on a multidisciplinary action, including diagnosis and early intervention newborn, drug treatment of the clinical manifestations, the psycho-pedagogical support, speech therapy and occupational therapy.
Gene therapy, acting on the genetic defect or deficiency of the protein FMRP, it would be a chance to improve or reverse some clinical manifestations of the syndrome. This is the future and that the different research teams are based.
There is no cure, but there are drugs that effectively, treat many of the symptoms described.

Bibliography:

William Glover, Feliciano Ramos .etal. (2006). FRAGILE X SYNDROME. Madrid, Spain: GIRMOGEN.
MP Ribate Molina, J Foot Juste, FJ Ramos Fuentes. (2010). Fragile X Syndrome. 19.11.15, Spanish Association of Pediatrics Website: http://www.aeped.es/sites/default/files/documentos/sindrome_de_x_fragil.pdf

CÁNCER DE COLON

WHAT IS COLON CANCER?

Colon cancer is a disease that develops because the colonic mucosa contained in an existing polyp evolves from causes into a malignant tumor. Malignant cells usually are located in the intermediate and longer portion of the large intestine.

This type of cancer is one of the most common worldwide and also the easiest to diagnose. Moreover, cure rates are high if detected early and takes a long time to develop.

The colon along with the rectum (final portion of the large intestine) is where feces are stored before being expelled to the outside through the anus. To undertake this work, accumulate waste substances, so it is conducive to the development of cancer instead. Therefore it is important to reduce the accumulation time to a minimum by adopting a balanced diet to provide adequate intestinal transit preventing constipation.

Colon cancer can grow in three ways:

Local growth: In this case the tumor invades deeply all layers of the gut wall. First, the malignant tumor growing from the mucosa, expands the serosa and muscle layers reaches. By the time the cancer through the wall of the bowel can spread to all organs.

Lymphatic spread: When the tumor is deepened in the bowel wall can reach the organs using the network of lymph vessels that allow access to multiple lymph node regions. One feature of this broadcast is being done in an orderly reaching nearby lymph first to reach the farthest.

Hematogenous spread: Here the tumor uses the bloodstream to spread cancer cells to the liver, lungs, bones and brain, mainly.

OPINION: In all types of cancer risk factors that make people who are exposed to them are more likely to develop a malignancy.
so we must keep in mind that it is important to realize ourselves different studies and checkups prebenir these diseases.

BIBLIOGRAPHY:http://www.dmedicina.com/enfermedades/cancer/cancer-de-colon.html




       

Genetic Mutations: Edwards syndrome

Trisomy 18 (Edwards syndrome)

Concept
It is a malformation syndrome resulting from a chromosomal imbalance. Its frequency has been estimated at 1/6000 live births and is the third most common chromosomal syndrome after the s. Down and microdeletion 22q11. It occurs in all races and geographical areas.
It is more common in older mothers: From age 35 the rate increases progressively from 1/2500 live births at age 36 to 1/500 in the 43^rd.

Etiology:
 

Trisomy of all or most of chromosome 18. 95-96% of cases are complete trisomy product nondisjunction, the remainder translocation trisomy. The partial trisomy and mosaicism for trisomy 18 often have an incomplete phenotype, absence of some of the typical anomalies s. Edwards, although in some cases the whole, typical phenotype of trisomy 18 mosaicism can be associated.

Clinical features:

• Delayed prenatal and postnatal (mean birth weight: 2,340 g) growth.
• Birth after term.
• Adipose tissue and poor muscle mass at birth.
• Initial hypotonic progressing to hypertension .
• Craniofacial microcephaly, large fontanels, prominent occiput with bifrontal narrow diameter, eye defects (corneal opacity, cataract, macroftalmia, coloboma of iris), short palpebral fissures, low-set dysplastic ears, micrognathia, small mouth, arched palate, cleft lip / cleft palate.
• Tips: trisomy hand (hand position characteristic tendency to clenched fists) hypoplastic fingernails and feet, extension limitation (> 45th) hips, prominent heel to toe short foot and dorsiflexion, hypoplasia / radial aplasia, syndactyly 2nd-3rd toes, club feet.
• Chest-abdomen hypoplastic nipples, umbilical hernia and / or groin, increased intermaxillary space, omphalocele.
• Urogenital: undescended testes, hypoplastic labia with prominent clitoris, uterine malformations, hypospadias, bifid scrotum.
• Reindeer-urologic malformations: horseshoe kidney, renal ectopic, hydronephrosis, urethral duplication, polycystic kidney.
• Cardiovascular: congenital heart disease present in 90% or more of the cases (interventricular communication with multiple valve involvement, patent ductus arteriosus, pulmonary stenosis, coarctation of the aorta, transposition of the great arteries, tetralogy of Fallot, anomalous coronary artery).
• Gastrointestinal tract: Meckel's diverticulum, ectopic pancreas, colon incomplete fixation, anterior anus, anal atresia.
• CNS: hypoplasia / aplasia of the corpus callosum, agenesis of septum pellucidum, abnormal gyri, hydrocephalus, spine bifida.
• Skin: marbled skin, hirsutism in back and front.
• Radiological signs: sternum cut with reduced ossification centers, small pelvis, and dislocated hips.

 

 

 

 

 

 Diagnosis

Demonstration in the cytogenetic study of trisomy 18.

Epidemiology

It is the second most common trisomy, just after the call Trisomy 21 Down syndrome. Its incidence is 1 / 3,000- 1 / 8,000 live births, making it highly variable depending on the population and early prenatal diagnosis. It is more common in women by a ratio of 4-1 is of maternal origin in approximately 90% of paternal origin and in only 10% of the cases (2.4) where 95% of the cases corresponds to Full trisomy and is associated with advanced maternal age. Only 50% of patients die within the first 2 months of life. The 90-95% of patients die within the first year of life, are exceptional they reached adolescence.

 

 

Edwards’s syndrome is a condition that causes multiple organ failure and that according to statistics ended in death in most cases, it is for this very reason that patients should receive palliative care, which focuses on reducing pain and suffering patients to provide the necessary measures for the relief of their symptoms. This treatment includes the work of various specialists among which pediatricians, psychologists, nutritionists, physiotherapists, occupational therapists.

Bibliography:

Antonio Perez Aytes. (2010). Trisomy 18 (Edwards syndrome). 11/13/2015, of Spanish Association of Pediatrics Website: http://www.aeped.es/sites/default/files/documentos/trisomia_18.pdf