Wednesday, May 29, 2013

BENIGN BREAST TUMOR

Fibroadenomas are benign tumors composed of stromal and epithelial elements. These tumors are commonly seen in young women; less than 25 years old according Lee (2011). Multiple or complex fibroadenomas may indicate a slightly increased risk for breast cancer; the relative risk of patients with such fibroadenomas is approximately twice that of patients of similar age without fibroadenomas (Roubidoux, 2011), although other authors do not consider a breast cancer precursor (Lee, Bushan, Tolles, & Hofmann, 2011).
Intraductal papilloma is a small benign proliferative tumor that grows in lactiferous ducts, consists of a branching fibrovascular core with overlying epithelial and myoepithelial layers. These lesions can occur anywhere in the ductal system, and may be solitary or multiple (Warrick, 2011). It is founds typically beneath areola as mentioned by Lee at el (2011), and presents like a serous or bloody nipple discharge.
The risk of developing cancer from Intraductal papilloma is not well established, Azzopardi did not consider papilloma to be a direct precursor based on what he believed to be a false association between papilloma and breast cancer in studies available during his time, which he thought were confounded by an overdiagnosis of "pseudo-infiltration" in benign papilloma and the misdiagnosis of papilloma as papillary carcinoma. (Azzopardi, 1979). In the other hand, Haagensen believed "multiple papillomas" was a precancerous lesion; because all 6 women in his study who developed breast cancer, in the same area where the initial papilloma had been diagnosed. (Haagensen, 1986).
            Phyllodes tumor is the most commonly occurring nonepithelial neoplasm of the breast, presents like a large, bulky mass of connective tissue and cysts, leaf like projection, commonly in the 6th decade of life (Lee, 2011), although it represents only about 1% of tumors in the breast. It has a smooth, sharply demarcated texture and typically is freely movable. It is a relatively large tumor, with an average size of 5cm. The etiology of phyllodes tumors is unknown. (Lannin, 2012).
The difficulty in distinguishing between fibroadenoma, benign phyllodes tumors, and malignant cystosarcoma phyllodes may be vexing for even the most experienced pathologist (Yohe & Yeh, 2008).
Bibliography


Azzopardi, J. (1979). Problems in breast pathology. In: Bennington J, ed. Major progress in Pathology. London, UK: Bailliere-Tindall.
Haagensen, C. (1986). Diseases of the Breast. 3ra ed. . Philadelphia, Pa: WB Saunders Co.
Lannin, D. R. (2012, Jan 6). medscape.com. Retrieved Jan 23, 2012, from Cystosarcoma Phyllodes: http://emedicine.medscape.com/article/188728-overview
Lee, T., Bushan, V., Tolles, J., & Hofmann, J. (2011). First AID for the USMLE step 1. usa: McGraw Hill.
Roubidoux, M. A. (2011, apr 12). Medscape.com. Retrieved jan 23, 2012, from breast fibroadenoma imaging: http://emedicine.medscape.com/article/345779-overview
Warrick, J. I. (2011, Sep 29). medscape.com. Retrieved Jan 23, 2012, from Pathology of small, Peripheral Intraductal Papillomas: http://emedicine.medscape.com/article/1873858-overview
Yohe, S., & Yeh, I. (2008). Missed diagnoses of phyllodes tumor on breast biopsy: pathologic clues to its recognition. Int J Surg Pathol. , Apr; 16 (2):137-42.

 
 

ALBINISMO:


Considerado como un grupo de anormalidades hereditarias relacionada con la síntesis de la melanina, caracterizado por la ausencia o reducción congénita del pigmento melanina. El albinismo es el resultado de un defecto en la producción de la melanina a partir de una compleja via metabólica relacionada con la tirosina.

La heterogeneidad fonotípica del albinismo es debido a diferentes mutaciones del gene, afectando varios puntos en la via metabólica de la melanina, dando como resultado varios grados de reducción de la producción de la melanina. (Bashour, 2010).

La deficiencia congénita esta relacionada directamente con una deficiencia de tirosinasa, de carácter autosómico recesivo, produciéndose una inhabilidad para producir melanina a partir de la tirosina, por otro lado el defecto puede estar relacionado con el transporte de la tirosina, lo cual traerá una disminución en la concentración de tirosina y por tanto una disminución en la melanina. Se consideran otras variantes hereditarias como el albinismo ocular relacionado con la herencia ligada al cromosoma X de carácter recesivo. Aunque también  pudiera ser el resultado de una alteración en la migración de las celulas de la cresta neural, en el desarrollo embriológico. (Le, Bhushan, & Grimm, 2011).

Bibliography



Bashour, M. (2010, feb 11). Medscape.com. Retrieved from Albinism: http://emedicine.medscape.com/article/1200472-overview

Le, T., Bhushan, V., & Grimm, L. (2011). First AID for the USMLE step 1. usa: McGraw Hill.

 

APARATO DE GOLGI & MUCOLIPDOSIS TYPE II.


El aparato de Golgi es un orgánulo de tamano medio que se encuentra en las células eucariotas cerca del núcleo, forma parte del sistema endomembranoso y su principal función es recibir las macromoléculas que le llegan desde el retículo endoplasmico, modificarlas, marcarlas y empaquetarlas en vesículas para enviarlas a su destino. (Era7 Information Technologies S.L.U, 2007).

De acuerdo a Le (2011) es considerado como el centro de distribución de proteínas y lípidos desde el retículo endoplasmico a la membrana plasmática, los lisosomas y las vesículas secretorias.

Tiene dentro de sus funciones modificar el N-oligosacárido de la asparagina, añadir O-oligosacáridos a los residuos de serine y treonine, también se encarga de unir la mannosa 6 fosfato a la proteína lisosomal especifica, ensamblar el proteoglicano a partir del núcleo de las proteínas, además de la sulfatación de la azúcar en el proteoglican y en tirosina seleccionada en la proteína. (Le, Bhushan, & Grimm, 2011).

El fallo en la adicción de la mannosa 6 fosfato a la proteína lisosomal conllevara a un desorden hereditario relacionado con el almacenamiento lisosomal, denominado (I-cell disease)  enfermedad de inclusión celular  (Dierks , et al., 2009), caracterizado según Le (2011) por rasgos faciales toscos, corneas nubladas, restricción de los movimientos articulares, con niveles de enzima lisosomal elevados en plasma; todo lo cual resulta frecuentemente fatal en la infancia.

El tratamiento para la enfermedad de inclusión celular sigue siendo limitado, se habla del trasplante de médula ósea, intentado en un pequeño número de pacientes, con datos  muy limitados, aunque se informa de una normalización de los niveles de la enzima lisosomal después del trasplante por lo menos en un caso (Krivan, Timar, & Goda , 1998).

Los esfuerzos en el tratamiento deben ser dirigidos a maximizar el mantenimiento de la salud en general, los suplementos nutricionales pueden ser beneficiosos, esta recomendado tratar oportunamente las infecciones respiratorias recurrentes con antibióticos (Roth, 2009).

Bibliography



Dierks , T., Schlotawa, L., Frese, M., Radhakrishnan, K., von Fugura, K., & Schmidt, B. (2009, april). molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Nieman-Pick C1 disease-Lysosomal storage disordes caused by defect on non-lysosomal proteins. Biochim Biophys Acta, 1793(4):710-25.

Era7 Information Technologies S.L.U. (2007, 11 6). medicina molecular. Retrieved from medmol.es: http://www.medmol.es/glosario/41/

Krivan, G., Timar, L., & Goda , V. (1998). Bone marrow trnsplantation in non-malignant disorders. Bone Marrow Transplant, Dec; 22 suppl 4: SBO-3.

Le, T., Bhushan, V., & Grimm, L. (2011). Firt AID for the USMLE STEP 1. USA: McGraw Hill.

Roth, K. (2009, sept 1). medscape.com. Retrieved from I-Cell disease (Mucolipidosis Type II) Treatment & Management: http://emedicine.medscape.com/article/945460-treatment

 

ATHEROSCLEROSIS:

            The etiology of atherosclerosis is unknown (Ladich, 2010). There are multiple factors that contribute to atherosclerotic plaque progression, these include genetic and acquired factors, other process like coagulation, inflammation, lipid metabolism, intimal injury, and smooth muscle cell proliferation are involve in atherosclerosis formation.

The vascular endothelium may be damaged by various factors lake hyperlipidemia, smoking, and hypertension.

The oxidation of LDL cholesterol cause endothelial damage, it can lead to monocytes and lipid infiltration into subendothelium, known as fatty streak; the release of growth factor (platelet derived growth factor and transforming growth factor β) leading to smooth muscle cell proliferation into intima forming proliferative plaque and subsequent development of foam cell and complex atheroma with calcification and ischemia of the intima (Le & Yeh, 2012).

Atherosclerosis preferably affects the branching point of arteries or areas of turbulent blood flow including abdominal aorta, proximal coronary arteries, popliteal arteries, carotid arteries, renal arteries, and arteries of circle of Willis.

Atherosclerosis can express as angina, claudication, or may present as an asymptomatic process.

Other manifestation of arteriosclerosis (Le, Bhushan, Tolles, & Hofmann, 2011) includes:

          Calcification of the arteries, especially located in radial and/or ulnar arteries, known as Mönckeberg’s arteriosclerosis; usually benign process without obstruction blood flow, and not involved of the intima.

Hyaline thickening of small arteries in essential hypertension or diabetes mellitus named Arteriolosclerosis.
 
 

Bibliography

Ladich, E. R. (2010, Aug 24). Medscape.com. Retrieved April 26, 2012, from Atherosclerosis  
pathology: http://emedicine.medscape.com/article/1612610-overview#aw2aab6b4
Le, T., & Yeh, J. S. (2012). First AID cases for the USMLE step 1. usa: McGraw Hill.
Le, T., Bhushan, V., Tolles, J., & Hofmann, J. (2011). Fisrt AID for the USMLE step 1. usa: McGraw Hill.
 
 
 
 

Monday, May 27, 2013

ASTIGMATISM


Astigmatism is a vision condition that causes blurred vision due either to the irregular shape of the cornea, the clear front cover of the eye, or the curvature of the lens inside the eyes. An irregular shape of the cornea or lens prevents light from focusing properly on the retina, the light-sensitive surface at the back of the eyes. As a result, vision becomes blurred at any distance.

This condition frequently occurs with other vision condition such as myopia and hyperopia. Together these vision conditions are referred to as refractive errors because they affect how the eye bends or refracts light.

Etiology: the specific cause is unknown. It can be hereditary and usually present from birth. It can change as child grows and may decrease or worse over time.

The cornea and lens are primarily responsible for properly focusing light entering in the eyes, allowing see clearly. Astigmatism occurs due to the irregular shape of the cornea or lens inside the eye.

It is a very common condition. Most people have some degree; slight amounts of astigmatism usually don’t affect vision and don’t require treatment. However, large amounts cause distorted or blurred vision, eye discomfort and headache s.

Diagnostic: astigmatism can be diagnosed through a comprehensive eye examination by a doctor of optometry. Testing for astigmatism measures how the eyes focus light and determines the power of optical lenses needed to compensate for the reduced vision.

Treatment: there are a several options available to regain clear vision include

ü Eyeglasses

ü Contact lenses

ü Orthokeratology

ü Refractive surgery procedures

PRESBYOPIA


Presbyopia is a normal vision condition in which the crystalline lens of the eyes loses its flexibility. This results in progressive difficulty in focusing on close objects.

The focus lens inside the eyes, crystalline lens, will start to change with normal aging, this change causes the lens to harden and lose some of its elasticity and therefore some focusing ability.

The development of this condition varies from person to person. Although presbyopia may seem to occur suddenly, the actual decline takes place over the course of many years. It usually becomes apparent to people in their early to mid-forties.

Signs and symptoms include the tendency to move reading material away from you to make it clearer. Also holds reading material at arm’s length, blurred vision at normal reading distance, and eye fatigue along with headache when attempting to do close work are all signs of presbyopia.

Unfortunately presbyopia cannot be prevented; it is, as mentioned before, a natural part of aging process, the signs can start at varying ages, the eventual change in the crystalline lens is unavoidable.

Presbyopia is diagnosed with a comprehensive eye examination by a doctor of optometry will include testing near vision; this will determine the extent, if any, of presbyopia.

As presbyopia can complicate other common condition such as nearsightedness, farsightedness and astigmatism, the doctor will perform other test to determine the specific lenses that will allow you to see clearly and comfortably for your daily visual needs.

Treatment: Doctor of optometric prescribes lenses for near work that include reading glasses, bifocals, trifocals, progressive addition lenses or contact lenses.


Presbyopia and losing the flexibility and elasticity of the crystalline lens progress for some time. These changes will affect the ability of the eyes to focus property. As a result, periodic changes in your eyeglasses or contact lenses are necessary to maintain good vision.

After adjusting to your new eyewear, you should find that you can still do all the things you did before. Presbyopia will probably not have a significant effect on your lifestyle at all. You should, however, continue to make sure your eyes are staying healthy, as recommended by your doctor.