sábado, 15 de septiembre de 2012


El síndrome de Down 
Es un trastorno genético causado por la presencia de una copia extra del cromosoma 21 (o una parte del mismo), en vez de los dos habituales (trisomía del par 21), caracterizado por la presencia de un grado variable de discapacidad cognitiva y unos rasgos físicos peculiares que le dan un aspecto reconocible.
 Es la causa más frecuente de discapacidad cognitiva psíquica congénita y debe su nombre a John Langdon Haydon Down que fue el primero en describir esta alteración genética en 1866, aunque nunca llegó a descubrir las causas que la producían.
 En julio de 1958 un joven investigador llamado Jérôme Lejeune descubrió que el síndrome es una alteración en el mencionado par de cromosomas.
No se conocen con exactitud las causas que provocan el exceso cromosómico, aunque se relaciona estadísticamente con una edad materna superior a los 35 años.
 Las personas con Síndrome de Down tienen una probabilidad algo superior a la de la población general de padecer algunas patologías, especialmente de corazón, sistema digestivo y sistema endocrino, debido al exceso de proteínas sintetizadas por el cromosoma de más.
 Los avances actuales en el descifrado del genoma humano están desvelando algunos de los procesos bioquímicos subyacentes a la discapacidad cognitiva, pero en la actualidad no existe ningún tratamiento farmacológico que haya demostrado mejorar las capacidades intelectuales de estas personas.
 Las terapias de estimulación precoz y el cambio en la mentalidad de la sociedad, por el contrario, sí están suponiendo un cambio cualitativo positivo en sus expectativas vitales. 

Enfermedades hereditarias

Son enfermedades hereditarias monogénicas las producidas por la mutación o alteración en la secuencia de ADN de un solo gen. También se llaman enfermedades hereditarias mendelianas, por transmitirse en la descendencia según las leyes de Mendel. Se conocen más de 6.000 enfermedades hereditarias monogénicas, con una prevalencia de un caso por cada 200 nacimientos. Aún así, son menos que las enfermedades poligénicas.
Las enfermedades monogénicas se transmiten según los patrones hereditarios mendelianos como:
  • Enfermedad autosómica recesiva. Para que la enfermedad se manifieste, se necesitan dos copias del gen mutado en el genoma de la persona afectada, cuyos padres normalmente no padecen la enfermedad, pero portan cada uno una sola copia del gen mutado, por lo que pueden transmitirlo a la descendencia. Se transmite por los cromosomas no sexuales (autosomas). La probabilidad de tener un hijo afectado por una enfermedad autosómica recesiva entre dos personas portadoras de una sola copia del gen mutado (que no manifiestan la enfermedad) es de un 25%.
  • Enfermedad autosómica dominante. Sólo se necesita una copia mutada del gen para que la persona esté afectada por una enfermedad autosómica dominante. Normalmente uno de los dos progenitores de una persona afectada padece la enfermedad y estos progenitores tienen un 50% de probabilidad de transmitir el gen mutado a su descendencia, que padecerá la enfermedad.
  • Enfermedad ligada al cromosoma X. El gen mutado se localiza en el cromosoma X. Estas enfermedades pueden transmitirse a su vez de forma dominante o recesiva.
Algunas enfermedades monogénicas son:

viernes, 17 de junio de 2011

LABORATORIO DE BIOLOGIA
CICLO OVARICO Y ENDOMETRIAL
NOMBRE:____________________________ N° LISTA__________
FECHA:_________________

1. En la mujer el período fértil empieza con la ____________________y termina con la _____________________ .
2. Este período es dividido en ciclos de _____________ días separados por la MENSTRUACION.
3. El ciclo se divide en 2 períodos de variable duración: La FASE ________________, que precede a la ovulación, y la FASE _____________, que sigue a la ovulación.
La duración de la Fase Folicular depende de la velocidad de crecimiento de los folículos ovaricos y varía de mujer en mujer. En un estudio de Bishop P. de 20 mujeres duró 15,4 + 2,5 días. La duración de la Fase Lutea de la duración de la vida útil del Cuerpo Luteo y sería menos variable. 13,6 + 1.2 días.
4. El ciclo ovarico es parte integral de un sistema integrado por el ____________, _____________, _____________ y _____________.
5. La _______ realiza el reclutamiento y crecimiento de folículos ováricos al igual que la selección del folículo dominante.
6. La ______ induce la ruptura folicular y sostiene el cuerpo luteo.
7. __________________________________ son producidos por los folículos y el cuerpo luteo.
Unidos a proteínas transportadoras, transitan por la sangre y regulan la secreción de GnRH , FSH y LH y producen proliferación y diferenciación del endometrio para facilitar la implantación del embrión, si la fertilización tuvo lugar.
8. Durante la primer semana después de la menstruación (día 28 del ciclo), la __________ continúa aumentado, los folículos crecen intensamente y la FSH aumenta la expresión de sus propios receptores y receptores de LH en las células granulosas.
9. Durante este periodo, los folículos producen ___________ en pequeñas cantidades y sus niveles son ± constantes en sangre. Durante la segunda semana, siguen creciendo los folículos, incrementan los receptores de FSH en la granulosa, que aumenta significativamente. Este incremento induce un feedback (-) luego la FSH que disminuye significativamente en sangre.
10. La ruptura folicular (OVULACION) ocurre _______ después del pico de LH. Esto es debido a que las celulas granulosas adquieren receptores de LH (por efecto de la FSH) y ahora responde a la LH.
Este péptido induce la secreción de enzimas que digieren la pared folicular. El incremento inicial de LH al inicio de su pico, es suficiente para que las granulosas secreten pequeñas cantidades de Progesterona que participa en el mecanismo de inducción del pico de LH.
11. Si la implantación no ocurre no hay ________, el cuerpo luteo no es sustentado por mucho tiempo y disminuye el E2 y la Progesterona.

12. Esta disminución induce un aumento de FSH que empieza a recluatar folículos para el próximo ciclo. La mentruación aparece por que los niveles de __________________ bajan a los requeridos para mantener el endometrio secretor.

13. El ciclo menstrual humano se puede dividir en 4 fases:
a. FASE ________________( temprana – media – tardía)
b. FASE __________________(transición folicular – lútea)
c. FASE _________________(temprana – media y tardía)
d. FASE __________________(transición lúteo folicular)
Dinámica histológica y estructural del endometrio
14. FASE PROLIFERATIVA TEMPRANA ____________________________________
15. La superficie epitelial endometrial se reestablece al 5 día del ciclo,_________________________________________________________.
16. La actividad mitótica del epitelio y el estroma es evidente al _________y sigue hasta __________ luego de la ovulación.
17. Se engruesa por __________________________y aumento de la sustancia basal estromática.
18. Las Glándulas Presentan amplia separación entre ellas en la zona superficial, con más tortuosidad en las zonas más profundas. El epitelio glandular se vuelve más alto y ___________________cerca del momento de la ovulación.
Luego de la ovulación hay tres zonas endometriales separadas: ZONA BASAL adyacente al endometrio,ZONA ESPONJOSA INTERMEDIA , por arriba de la basal y ZONA COMPACTA , inmediatamente por debajo de la superficie endometrial.
19. FASE SECRETORA MEDIA y TARDIA ____________________________ De espesor, muy vascularizado y rico en glucógeno. Glándulas tortuosas y su actividad secretora llega al máximo a los 6 días luego de la ovulación.
Las células estromáticas alrederor de los vasos sanguineos aumentan de tamaño. (predesidualización) y son los cambios previos a la mayor transformación endometrial del embarazo.
FASE PREMENSTRUAL: Infliltración estromática de leucocitos polimorfonucleares y mononucleares. Glándulas con “agotamiento secretor”, nucleos basales y desaparecen el sistema de canales nucleares y las mitocondrias gigantes. El esqueleto reticular del estroma empieza a desintegrarse.
El espesor endometrial disminuye en los días previos a la menstruación como resultado de pérdida de líquido tisular y secreciones.
MENSTRUACION
20. Empieza con la supresión de la ___________________ , pero no se sabe si es por esto en si o si participan reguladores intermediarios.
Ciertos Estudios hablan de una fase isquémica con vasoconstricción de las arterias espiraladas y arteriolas, 4 a 24 hs antes de la menstruación. La isquemia da una mala perfusión a los tercios superiores del endometrio.
La hemorragia ocurre luego de que las arterias tienen un período de constricción y se relajan, el endometrio superficial se distiende por la formación de hematomas y se desarrollan fisuras que llevan al desprendimiento en fragmentos del tejido.
También hay autofagia y heterofagia por presencia de macrófagos.
Durante la menstruación se elimina una parte significativa del endometrio funcional, constituyendo fragmentos de tejido, mezclados con sangre, licuados por la actividad fibrinolítica del endometrio.
Duración promedio: ____________________
Volúmen promedio: ____________________

miércoles, 10 de febrero de 2010

THE SKELETAL SYSTEM



General Classifications of Bones

Long Bones -- "longer than they are wide:" clavicle, humerus, radius, ulna, femur, tibia, fibula, metatarsals, metacarpals. Purpose: provide support and serve as the interconnected set of levers and linkages that allow us to create movement. (formed from hyaline/articular cartilage)
Short Bones: carpals and tarsals: consist mainly spongy bone covered with a thin layer of compact bone. Purpose: allow movement, provide elasticity, flexibility, & shock absorption.
Flat Bones: ribs, sternum and scapula. Purpose: protect and provide attachment sites for muscles.
Irregular Bones: skull, pelvis, and vertebrae. Purposes: support weight, dissipate loads, protect the spinal cord, contribute to movement and provide sites for muscle attachment.
Sesamoid Bones: a short bone embedded within a tendon or joint capsule, i.e. patella. Purpose: alter the angle of insertion of the muscle.

Axial Skeleton (80 bones)

- skull- consiting of 1) the cranium (which encloses and protects the brain) and 2) the facial skeleton. The upper teeth are embedded in the maxilla; the lower teeth, in the mandible.
- mandible(jaw) - the only freely movable bone of the skull
- ribs, sternum (breastbone) - comprising the "thorax"/thoracic cage, protecting the heart and lungs
- vertebral column - the "spine"

Appendicular skeleton (126 bones, 64 in the shoulders and upper limbs and 62 in the pelvis and lower limbs)

- Upper Extremity - The arms (humerus - upper arm bone) are ultimately attached to the thorax, via synovial joints, at the collarbone (clavicle) and shoulder bone (scapula) (shoulder joint). The scapula is attached to the thoracic cage only by muscles. The elbow joint unites the humerus with the two lower arm bones - the ulna and radius. Three sets of joints connect the radius and ulna to the bones of the palm (metacarpals), via the eight small wrist carpals. Further, the knuckles (metacarpophalangeal, or MCP, joints) connect the metacarpals to the proximal phalanx of the fingers. Each finger has 3 phalanges (proximal, middle, distal), except the thumb which has only two.
- shoulder/ scapula
- arm and forearm, elbow
- hand
- Lower Extremity - The pelvis transmits the upper body weight from the sacrum (at the sacroiliac joint) to the legs. It begins as 3 hip bones (ilium, ischium, and pubis) which fuse together when growth is completed. The hip joint unites the pelvis to the thigh bone (femur); the knee joint, which includes the knee cap (patella), links the femur to the lower leg bones - the tibia and fibula. The ankle joint links the lower leg bones to the talus. The body weight is then transmitted to the heel (calcaneous) and to the balls of the feet via the tarsal and metatarsal foot bones. The toes have a phalangeal structure like the fingers.
- pelvic girdle
- thigh and leg. knee,
- foot/ankle/toe

The skeletal system provides four basic functions:·
. Support for tissues and muscle
· Protection for vital organs
· Movement through bones and attached muscles
· Storage for minerals and immature blood cells


Growth
Ossification is the process by which bone is formed. Some bones (e.g. the flat bones of the skull) are formed in one stage from the connective tissue. This process is known as intramembranous or direct ossification.
Other bones (e.g. short bones) are formed from the cartilaginous model of the future bone developed in the embryo, being dissolved and replaced by bone cells. This process is known as endochondral or indirect ossification - most bones are formed this way.

Support
Bones and cartilage that make up the skeleton are the only rigid materials in the body. The 206 bones of the skeleton provide a framework and points of attachment for many of the soft tissues of the body. The five main classifications of bones are : Long (e.g. femur), Short (e.g. tarsal bones of the foot), Flat (e.g. frontal bone of the skull), Irregular (e.g. vertebrae) and Sesamoid (e.g. knee cap)
Protection.

These structures protect some of the vital tissues and functional organs of the body. Typical examples are:
· Skull - protects the brain
· Vertebrae - protects the spinal cord
· Thoracic cage - protects the heart and lungs

Movement
Bones act as levers during movement and provide solid structures to which muscles are attached. The joints allow movement between bones and these movements are directly related to the type of joint and range of motion. Joints fall into one of three categories: Fixed fibrous or Synarthroses (e.g. bones of the skull), Slightly moveable or Amphiarthroses (e.g. symphysis pubis) and Freely movable or Diarthroses.
Freely Movable joints comprises of four main groups: Ball and Socket (e.g. hip), Hinge (e.g. elbow), Pivot (e.g. radius and ulna) and Gliding (e.g. carpal joint of the wrist)

Component parts of a synovial joint
A fibrous capsule surrounds the joint and is strengthened by ligaments. The stability of these joints is dictated by the shape of articulating surfaces, their surrounding ligaments and muscles. For example, the knee is given great strength from 2 cruciate and 2 collateral ligaments. Whilst one of the hardest joints to dislocate is the hip. It is formed with the head of femur fitting neatly into the socket or acetabulum in the pelvis.
Articular or hyaline cartilage covers and protects the ends of bones which meet to form a joint and therefore allows freedom of movement. It is a very hard, smooth material which does not repair itself when damaged.
Tendons connect muscle tissue to bone and although more elastic than ligaments, have a far greater tensile strength than muscle.
Synovial membrane lines the joint cavity and covers the tendons and ligaments which pass through it. The membrane produces synovial fluid which lubricates the joints

Ligaments are tough fibrous bands of tissue which connect bone to bone and help stabilise a joint, the strongest ligament in the body being situated at the front of the hip capsule, preventing excessive backward movement of the legs. Ligaments, although stronger than muscle tissue, have fewer nerve endings and less blood supply , and therefore take longer to repair when damaged. Whilst these strong fibrous bands offer great stability to a joint in preventing excessive movement, if they are stretched or torn through injury, they do not necessarily return to their former length and therefore may remain stretched, therefore offering reduced stability to that particular joint.

A bursa is a small sac formed in connective tissue lined by a synovial membrane and containing a small amount of synovial fluid. It is situated between moving parts, often between tendon and bone, to prevent rubbing.
Storage
In some bones, there is red marrow which produces red blood cells, some white cells and platelets. Minerals, especially calcium and phosphorous are also stored in bones and can be distributed to other parts of the body.

Effect of exercise on the skeletal system
The condition of bone may be improved by exercise as it responds to mechanical stresses. These mechanical stresses usually take the form of skeletal muscle pulling at their points of attachment being their origins and insertions. Where these mechanical stresses are applied, most it has been shown that more mineral salts are deposited and more collagenous fibres are produced. Therefore, both the density and size of bone in these areas may be increased and these changes in bone structure are stimulated by increased loads being placed on the skeleton. This has been borne out by greater bone mass being observed in weight lifters than in other lighter endurance athletes such as joggers. Other examples include racquet players who have been shown to have greater bone density in their playing arms. It has even been shown that if a leg is immobilised by being placed in plaster, due to a fracture, that even after a few weeks the bone becomes decalcified from lack of mechanical stress.

Whilst it may therefore be considered beneficial to utilise exercise to maintain healthy bones, great care must be taken with children whose bones and muscles are still developing. They should not be subjected to forms of sport involving high degrees of mechanical stress, partly because of the weaknesses that still exist within the bones, and also because of adverse effects on the development of these bones before maturity.

There are two main effects on bones as we grow older. Bones begin to lose calcium and this is one of the factors contributing to the condition called osteoporosis. Secondly, with age less protein is produced which alters the make-up of bone and sometimes creates brittle bones.

Joint Classifications

Joints are classified by:

The degree of movement they allow
The structure of the joint

The three types of joints that we will look at are:

Fibrous joints
Cartilaginous joints
Synovial joints


Different Types of Joints
Hinge - movement occurs primarily in a single plane eg elbow, knee , ankle, interphalangeal joints.
Ball and socket - allows movement around 3 axes - flexion / extension, abduction / adduction and rotation, eg shoulder, hip.
Pivot - a ring of bone and ligament surrounds the surface of the other bone - movement in one plane, primarily rotation eg between the atlas and axis (ie the cervical vertebrae numbers 1 and 2) and the radius and ulna.
Gliding - Flat bone surfaces allow side to side and backwards and forwards movements eg between carpals, tarsals, between the sternum and the clavicle (sterno-clavicular) and the scapula and the clavicle.
Condyloid - Not on syllabus
Saddle joints - eg thumb


THE JOINTS:
BALL AND SOCKET


GLIDING


HINGE


SADDLE

jueves, 4 de febrero de 2010

HUMAN TISSUES, ORGANS, AND SYSTEMS

CLASS #2
Anatomy:
Is a branch of biology and medicine that is the consideration of the structure of living things.

Physiology:
the branch of the biological sciences dealing with the functioning of organisms.

Before studying anatomy, a student should become aware of some of the vocabulary that is used to describe various aspects of the human body. If everyone uses the same terminology, then it is easier to understand what each of us is trying to say. So, before learning the particulars about the anatomy of a region, we will take a look at some of the terminology.
For the purpose of description, the body is considered as being in what is called the. "anatomical position". We will use a skeleton to describe this position. In this Anatomical Position, the body is assumed to be standing, the feet together, the arms to the side, and the head and eyes and palms of the hands facing forwards. To ensure consistency of description it is important to keep the anatomical position constantly in mind. This last point is an important one, since in a normal relaxed position of the body, the thumb points anteriorly. In anatomical parlance, the thumb is a lateral structure, not an anterior one.

FRONTAL (or coronal) separates the body into Anterior and Posterior parts.
MEDIAN (or midsagittal) separates body into Right and Left parts.
HORIZONTAL separates the body into Superior and Inferior parts.
SAGITTAL any plane parallel to the median plane.

superior (closer to the head)
inferior (closer to the feet)

posterior (dorsal) closer to the posterior surface of the body
anterior (ventral) closer to the anterior surface of the body
medial (lying closer to the midline)
lateral (lying further away from the midline)

proximal closer to the origin of a structure
distal further away from the origin of a structure

intermediate between two other structures
external internal refers to a hollow structure (external being outside and internal being inside)

supine prone face or palm up when lying on back, face or palm down when lying on anterior surface of body

cephalad caudad toward the head, toward the tail (feet)

Histology:
(compound of the Greek words: ἱστός "tissue", and -λογία -logia) is the study of the microscopic anatomy of cells and tissues of plants and animals. It is performed by examining a thin slice (section) of tissue under a light microscope or electron microscope.

Connective tissue:

Is a form of fibrous tissue. It is one of the four types of tissue in traditional classifications (the others being epithelial, muscle, and nervous tissue).

Collagen is the main protein of connective tissue in animals and the most abundant protein in mammals, making up about 25% of the total protein content.


Connective tissue is responsible for providing structural support for the tissues and organs of the body. This mechanfunction is important in maintaining the form of the body, organs and tissues. The tissue derives its name from its function in connecting or binding cells and tissues.

Connective tissue is composed of:
1. cells
2. extracellular matrix.

The extracellular material of connective tissue, which plays a major role in the functioning of the tissue, is the dominant component of the tissue. The dominance of the extracellular material is a special feature that distinguishes connective tissue from the other tissues of the body.

The extracellular matrix is composed of :

protein fibers (collagen fibers, reticular fibers, elastic fibers)
amorphous ground substance tissue fluid (not preserved in histological preparations). The amount of tissue fluid is fairly constant and there is an equilibrium between the water entering and leaving the intercellular substance of the connective tissue. In pathological conditions (traumatic injury, inflammation) fluid may accumulate in the connective tissue, a condition known as edema.


Epithelial Tissue:

Epithelial tissue covers the whole surface of the body. It is made up of cells closely packed and ranged in one or more layers. This tissue is specialised to form the covering or lining of all internal and external body surfaces. Epithelial tissue that occurs on surfaces on the interior of the body is known as endothelium. Epithelial cells are packed tightly together, with almost no intercellular spaces and only a small amount of intercellular substance. Epithelial tissue, regardless of the type, is usually separated from the underlying tissue by a thin sheet of connective tissue; basement membrane. The basement membrane provides structural support for the epithelium and also binds it to neighbouring structures.



Muscle tissue:

Muscle is a very specialized tissue that has both the ability to contract and the ability to conduct electrical impulses. Muscles are are classified both functionally as either voluntary or involuntary and structurally as either striated or smooth. From this, there emerges three types of muscles: smooth involuntary (smooth) muscle, striated voluntary (skeletal) muscle and striated involuntary (cardiac) muscle. The names in the brackets are the common names given to the particular classification of muscle.



Nervous Tissue:

All living cells have the ability to react to stimuli. Nervous tissue is specialised to react to stimuli and to conduct impulses to various organs in the body which bring about a response to the stimulus. Nerve tissue (as in the brain, spinal cord and peripheral nerves that branch throughout the body) are all made up of specialised nerve cells called neurons. Neurons are easily stimulated and transmit impulses very rapidly. A nerve is made up of many nerve cell fibres (neurons) bound together by connective tissue. A sheath of dense connective tissue, the epineurium surrounds the nerve. This sheath penetrates the nerve to form the perineurium which surrounds bundles of nerve fibres. blood vessels of various sizes can be seen in the epineurium. The endoneurium, which consists of a thin layer of loose connective tissue, surrounds the individual nerve fibres.



Organ Systems:

Although an organ has a specific function, organs also function as part of a group, called an organ system. The organ system is the organizational unit by which medicine is studied, diseases are generally categorized, and treatments are planned. This book is, in large part, organized around the concept of organ systems.

Major Organ Systems

Cardiovascular:
Heart
Blood vessels (arteries, capillaries, veins)

Respiratory:
Nose
Mouth
Pharynx
Larynx
Trachea
Bronchi
Lungs

Nervous:
Brain
Spinal cord
Nerves (both those that carry impulses to the brain and those that carry impulses from the brain to muscles and organs)

Skin:
Skin (both the surface that is generally thought of as skin and the underlying structures of connective tissue, including fat, glands, and blood vessels)

Musculoskeletal:
Muscles
Tendons and ligaments
Bones
Joints

Blood:
Blood cells and platelets
Plasma (the liquid part of blood)
Bone marrow (where blood cells are produced)
Spleen
Thymus

Digestive:
Mouth
Esophagus
Stomach
Small intestine
Large intestine
Rectum
Anus
Liver
Gallbladder
Pancreas (the part that produces enzymes)
Appendix

Endocrine:
Thyroid gland
Parathyroid gland
Adrenal glands
Pituitary gland
Pancreas (the part that produces insulin)
Stomach (the cells that produce gastrin)
Pineal gland
Ovaries
Testes

Urinary:
Kidneys
Ureters
Bladder
Urethra

Male reproductive:
Penis
Prostate gland
Seminal vesicles
Vasa deferentia
Testes

Female reproductive:
Vagina
Cervix
Uterus
Fallopian tubes
Ovaries

Human Anatomy and Physiology



CLASS#1

WATH IS A HUMAN?
Man is a living being created in the image of God. Being created in God's image does not mean that men are shaped like God. Man is a special creation of God.

HUMAN BEHAVIOR:
1. Innate
2. Learned
3. Intelligent
4. Spiritual

Behavior Innate:
innate behavior in humans refers to the reflexes, for example focus the eye, pulling away from a source of pain, suction, they are all behaviors we bring to birth.

The instincts are complex reactions to various stimuli that make up the behavior of animals. Human beings have no instincts based behavior, but is based on our intelligence, what we learn or our spirit.

Behavior Lerned:
These are the things we learn in school, how to spell words, playing an instrument, walking, jumping, eating, learning Bible verses.

Behavior Intelligent:
They are based on the ability to reason, solve problems, to verify the relationship between two objects, recognize cause and effect, how we react to certain things that can affect us, to give value to something.

Behavior Spiritual:
Man was created in God's image in various ways, in their emotions and his intellect.
God created everything for man, but man has been created to know, serve and love God, to offer in this world all creation to God in thanksgiving, and to be raised to life with God in heaven . Only in the mystery of the Incarnate Word is true light the mystery of man, predestined to reproduce the image of the Son of God made man, who is the perfect "image of the invisible God" (Col. 1, 15).

The man is a spiritual being, is something more than emotional intelligence that directs it's behavior through the person of Christ, otherwise we all would act devoid of love, affection, mercy, forgiveness and the only thing that would exist is the sin.