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★Von Willebrand disease
(Chao-jin Wang)
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The hemorrhage trend of vWD sufferers is subject to great mobility
according to different types and seriousness of the disease. type 1 & 2 is
less serious, mostly, hemorrhage of skin mucous membrane, such as nose
bleeding, which is accompanied by the syndrome of bruise and gastroduodenal
bleeding, etc. For syndrome that resembles vWD such as haematoma, muscle and
joint bleeding is scarce, while it often happens after exodontia or operation.
vWD of type 3 is more serious, with skin mucous membrane bleeding often
happening; and is common for bleeding after exodontia or operation, which
requires additional treatment to stop bleeding; Due to the reduction of VIII:
C, the bleeding within muscle and joint as vWD will always happen.
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As investigations
carried out in European and American countries show, the incidence rate of this
disease is between 0.82~1.6%, quite above that of haemophilia. vWD is among the
most common congenital bleeding diseases. According to a survey carried out in Sweden,
about 0.8% of the population has wWF genes. Most sufferers (typical vWD or type
1 vWd, type 2 vWD) are of individual dominant inheritance which happens both to
men and women. The severe vWD that attacks few patients is caused by homozygous
or double heterozygous recessive. Some severe vWD is caused by inheriting
homozygous or compound heterozygous for type 1 genetic defect.TOP |
★Callosum hypoplasia syndrome (Mei-yuan Lin)
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For patients with acquired callus loss, their language and perception
area, which are under the control of left brain, cannot communicate with the
right brain. If their eyes are hooded to test the feeling of both hands, they
can neither match the position of both hands nor match both eye sights. The interdiction
of 1/3 of genus of corpus callosum leads to the loss of communication between
the left and right motor areas, which makes it possible for the left body to
imitate movement while it is impossible to follow oral commands, i.e.,
left-sided apraxia [1]. The rear 1/5 of callus commands visual communication.
The interdiction of left occipital lobe and splenium of corpus callusum caused
by the obstruction of artery of left rear brain leads to visual disability.
Though the left eyesight is normal with no impact on writing (the vision area
of right brain communicates with motor area of left brain before splenium), but
due to the failure to communicate with the angular gyrus and language area of
left brain, the patient cannot make sense nor read; likewise, the patient can
match but cannot nominate colors.
While not all the patients with acquired corpus callusum
suffer from the above said syndromes, especially, maybe because they suffer
incomplete corpus callusum, some congenital patients may not show any of the
syndromes. The information gets transmitted by means of anterior/posterior commisure or other routes [2]. Kessler J [3], etc. once
reported the case of a corpus callusum patient who suffers complete loss of
anterior commisure, to whom language stimulation leads to the increase in
metabolisation of dextrose in Wernicke area of both sides and Broca area on the
left, and both sides give satisfactory response to the language stimulation;
but the patient cannot match olfaction stimulation with letters, the left ear
acts incisively to disyllable, which
means patients of congenital corpus callusum loss or brain artery communication
system always make use of or reorganize various different brain functions to
make up the loss.
Formation of the
corpus callosum is mainly completed in the 10th to 20th weeks of the fetus,
although that the fiber of the corpus callosum is not exceeding the centerline
the dysraphism appears in the front of the neural tube, the migration of the
corpus callosum’s neurons is incomplete, or there are disabilities in the
physically mature of the corpus callosum, all may cause the congenital corpus
callosum agenesis [10]. Various
disabilities companying with the formation of the neural tube are not
surprising, such as the right limb paralysis, hyperopia astigmatism and mental
retardation detected in the early in this case. Though the early Wechsler
intelligence tests may be flawed, through an active rehabilitation therapy, the
patient has to use the left limb and receive the special education of returning
to the mainstream, thus the patients can live a closely normal life. The
rehabilitation therapy proves the potential of neural plasticity once again.TOP
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★Bullous Congenital Ichthyosiform Erythoderma (Li-ching Chen)
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Ichthyosis, as its name
implies, is a congenital skin disease that the rough cracked skin is similar to
the ichthyosis. It is a genetic disease, and refers to a group of skin diseases
with different magnitudes and the features of drying, thickening and scaling,
which includes ichthyosis vugaris (IV), fronds
ichthyosis, congenital ichthyosis erythroderma (commonly known as pangolins
disease), etc. Some inherit from parents’ abnormal gene, while some comes from
the own gene mutation that is unrelated to the family and parents. Ichthyosis
often results in disabilities not only in appearance, even in social
communication and psychology. Although patients with severe ichthyosis have a
poor appearance, the disease is contagious!
At present,
ichthyosis can be divided into 20 different types, of which some only have skin
lesions, while some may be associated with other organ lesions. The severity
varies widely from the patients with the same types of ichthyosis, and the
patients with different types of ichthyosis may also have a very similar
appearance. Therefore, when it can not
be classified solely from the exterior appearance, the classification often
needs the help of a skin biopsy, blood tests, or even a genetic diagnosis.
Ichthyosis can be
summarized into two types according to the skin growth rate, one type is that
the over-rapid growth and proliferation of skin epidermal cells result in that
the skin is peeling and appears bright red, and the other type is that the skin
with a normal epidermal growth rate is slowed in scaling, which cause a thick
and rough skin and a stiffened epidermis.
General patients
have symptoms since they are born, while some are slowly manifesting the
symptoms out. There is no radical therapy recently, and the treatment is only
targeted at the symptoms. For ichthyosis mainly is skin lesions and involves
abnormal genes, the diagnosis and treatment need to rely on the help of the
genetic physicians and dermatologists.TOP
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★Spinal Cord Injury(Chang-hong Yang Li)
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Introduction of
spinal cord
Vertebra is the combination of a series of spinal vertebras and inter-vertebral discs, and its
construction has mutual supports of the joints and can be able to have various
functions. Briefly: vertebras are divided into cervical vertebra (7), thoracic vertebrae (12), lumbar vertebrae (5), sacrum and caudal vertebrae
(1 in total). There are nerve
tissues through the spinal canal, of which some are approaches of the physical
functions, like the various separated cables [white matter] and the half-way
charging station [gray matter].
Once spinal cord
or nerve tissues are injured, it will cause physical disabilities with
different extents. There are many causes of spinal cord and vertebra injuries and the most common are: occupational injuries, car
accidents, sports injuries and some accidents. In the past 30 to 40 years,
doctors have discovered that the treatment of spinal cord and spinal cord
traumas was unlike that of general traumas, which does not only target at vertebra injuries and should also pay great attention to other organ
dysfunctions caused by spinal cord injuries (dragon bone marrow). The following
changes in the chronic phase will increase the incidence of complications or
even death of these patients much easily. So far, there has not been so-called
recovery in the event of spinal cord injuries. There are no specific drugs to
limb numbness and paralysis.
Vertebra and spinal cord injuries are not
only a simple problem of vertebras. The loss of nerve functions and
disabilities of all organs of the body, which all are caused by spinal cord
traumas, need to be taken in consideration in the course of treatment, and the
most practical way is to set up a medical team with a physician who has the
basic knowledge of this area responsible for the coordination of all concerned
specialist. All of the team work together to design a complete treatment program
for these patients and provide the best services for them, and also evaluate
the long-term effect, patient, so that the patients can obtain the best chance
of recovery and adaptation to life.TOP
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★Physical
disabilities, mental, multiple disabilities (Yu-ying Liu)
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1. Physical
disability is the disease with the minimum number of special children, but it
is a group with the most types. Some have very obvious physical disabilities,
while some have non-obvious physical disabilities, some are caused by the
diseases, and some may be permanent disabilities resulting from accidental injuries.
Patients with
physical disabilities may also have disabilities in cardiopulmonary
musculoskeletal and nervous system, and due to different functions of these
three systems, the patients with physical disabilities have the characteristics
of different types.
2. The brain is a
nerve center of a person, and is also a center of the spirit control. If
certain parts of the various organs of human once have those troubles that can
affect the brain's functions, it may cause mental. Such physical diseases
occurring in the whole body, which can result in metal and psychological
abnormalities, are "organic" diseases to which we refers in medicine.
In addition, it also includes genetic diseases (congenital mental retardation,
etc.), endocrine disorder (diseases of thyroid, pituitary, adrenal, etc.),
metabolic disorder (diabetes, ketone-lack disease) and circulation problems
(heart, vascular diseases), etc. and once these diseases violate the brain functions,
they may lead to mental abnormalities.
3.
Multiple disabilities refer to: When a person suffers from two or more than two
kinds of disabilities at different grades, the heavier grade is the diagnosis; when a person suffers two or more
than two kinds of disabilities at the same grade, the largest number of
disabilities is the diagnosis.TOP
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★Hypothyroidism,
Waardenburg Syndrome (Yu-yan Chou)
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1. The epidemics rate
of hypothyroidism is around 5 to 20 cases out of 1000 people. The incidence
rate of primary hypothyroidism is far greater than that of central
hypothyroidism with a ratio of about 1000:1. Hypothyroidism is prone to attack
female with the incidence rate going up with aging. Central hypothyroidism is
still caused by pendant adenoma, inflammation, infarction etc, or pendant
underwent operative treatment, radiotherapy, which affects the pituitary and
decreases the thyrotropin-releasing hormone secreted by the pituitary.
What
is the symptom of hypothyroidisms? The severity of symptoms is related to the
extent of hormone lowering. According to the severity of condition, the hormone
lowering manifests very widely, from the most subtle sub-clinical
hypothyroidism for which the patients almost have no symptoms, to the most
serious myxedema coma that, like this patient, could endanger lives. If
hypothyroidisms occur in newborns, these symptoms can be seen, such as
sustained physiological jaundice, lethargy and
constipation, If not diagnosed and treated promptly, the symptoms of cretinism will be observed, including the over-short
standing, prominent tongue, wide nose, protruding navel, mental retardation and
the developmental delay of bones. If occurring in older children, they can be
observed to have obstacles in the development of their standing and a delayed
puberty. The hypothyroidisms occurring in the adults are even not more specific
in symptoms, including fatigue, dry skin, rough and easy-peeling hair,
drowsiness, cold-intolerance (in the past few
years, the families are all very afraid of the Chinese New Year, for it is
often the time to be hospitalized when the annual Chinese New Year comes, I
remember it and find that this is because the cold air in winter renders the
inadequate thyroid function, slower speech, memory impairment, loss of
appetite, weight-gain, peripheral edema, and so on. Patients having central
hypothyroidisms usually have the very small thyroid, which is not easy to
locate at palpation. According to the definition of "American Association
on Mental Retardation", mental retardation refers to intellectual
functions that are significantly lower than those normal in the development
period (from conception to the age of 18), accompanied by adaptive behavior
problems. When we say that a person is mentally retarded, that is, he/she has a
notable slower pace, comparing to those persons at the same age, in the
academic study, dealing with everyday life, understanding of things surrounding
and the ability to adapt to the environment.TOP
2. In our minds, blue eyes should be a
characteristic of Western foreigners, but there is a group of friends of over 100 in our country who possess blue eyes,
they may be authentic Chinese people; Even if someone had said there is the
foreigners descent before a few times, according to the academic inference, in
fact, it is almost impossible to have later generations with blue eyes exist.
This is simply because the iris blue (blue eyes) is a recessive gene, which
tends to be covered by Oriental dark iris as a dominant gene. In fact, the domestic
friends with blue eyes and a number of their family members are all the
patients having Shi Waardengburg syndrome.
Blue eyes are only one of many symptoms
of Waardengburg syndrome, and these patients have blue eyes, while their
eyesight is completely unaffected, instead, attention should be paid to the
problems of easily occurring hearing-impairment and long-term constipation as
complications, which should be found and treated in the early stage so that the
patients can receive a good treatment and have a normal and healthy growth.
The incidence of the disease is about one
in 20,000 to 40,000 people, and their genetic patterns including the first to
the third types are all autosomal dominant inheritance,
the new mutation occurs occasionally, while the pattern of the fourth
type is an autosomal recessive inheritance.
Male and female both may be diseased. Waardengburg syndrome is one of the
important reasons of the hearing-impairment, 1.43%~2.7% of hearing-impaired
children has this disease and all have sensori-neural hearing defects
originating from cochlear.TOP
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★Hearing-impairment
(Mei-hua Hsu, Chiou-ju Chen)
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Hearing-impairment means the
hearing function is permanently damaged, and the hearing loss is 25 decibels or
more, that is to say, those patients may not hear any usual one-to-one speaking
voice without wearing the hearing aids, they are the very so-called
hard-of-hearing or deaf persons. The most notable physical characteristic of
hearing-impaired persons is to have obvious communication difficulties when
they are speaking with other persons, and their language development is slower
than those persons with healthy hearing at the same age, their pronunciation is not correct, especially when
pronouncing initials, they are often observed to have initials abbreviated, replaced, or lack of nasal. Their pronunciation is often lack of high or low tones and
cadence, monotonous and without changes. When listening to others’ speaking,
they may pay special attention to the speaker's face and mouth, or facial
expressions, and they often want to express the meanings by using their
gestures or movements with the help of hands and feet. When speaking with
others, they often lean the head forward or turn it to the speaker in order to
listen to others’ speaking content.
They may make no response the noise from the environment (such as ringing of
the electric bells and telephones, footsteps, automobile trumpets, etc.) or
human voice. When in school, they may often overlook the call from teachers or
classmates, sometimes fail to pay attention to the lectures, look around and
expect others to provide clues of the message.
Their behaviors are also unlike the
ordinary people, such as excessive movements, rude and rough actions, all is
due to the absence of sound-hearing. They may not know whether their door is
closed and open sound is too loud to frighten people, and are also not aware
whether they irritate others. Therefore, in groups, they have few friends,
often stay alone and have a heavier suspicious heart; they are self-centered,
selfish and stubborn, have a low frustration tolerance, and they also do not
easily receive advices, not yield to others and easily lose their temper; they
have a more immature social relations, and they are easily impulsive, have less
self-autonomy and are lack of independence, creativity, joy, the sense of
security and motivations of learning; they often have the sense of inferiority,
isolation, loneliness and helplessness. Although these above characteristics are more often mentioned in the
reports, think it more carefully and you will find an ordinary person who would
have these characteristics, wouldn’t he/she?
Only because there is on earth a small number of people who are
hearing-impaired, a slightly unusual performance of them seems “many” to those
people with healthy hearing.TOP
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★Asperger syndrome(Yu-ling Hsu)
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Their behaviors are also unlike the
ordinary people, such as excessive movements, rude and rough actions, all is
due to the absence of sound-hearing. They may not know whether their door is
closed and open sound is too loud to frighten people, and are also not aware
whether they irritate others. Therefore, in groups, they have few friends,
often stay alone and have a heavier suspicious heart; they are self-centered,
selfish and stubborn, have a low frustration tolerance, and they also do not
easily receive advices, not yield to others and easily lose their temper; they
have a more immature social relations, and they are easily impulsive, have less
self-autonomy and are lack of independence, creativity, joy, the sense of
security and motivations of learning; they often have the sense of inferiority,
isolation, loneliness and helplessness. Although these above characteristics are more often mentioned in the
reports, think it more carefully and you will find an ordinary person who would
have these characteristics, wouldn’t he/she?
Only because there are on earth a small group of people who are
hearing-impaired, a slightly unusual performance of them seems “many” to those
people with healthy hearing.
Before treatment, children with
ADHD shall be given a careful diagnostic analysis. And then based on the
evaluation by experts and the behaviors observed by their parents and teachers
in a natural environment, the comprehensive diagnosis is made and the disposal
and treatment programs will be designed.
2. The clinical manifestation is to have no
significant language or cognitive disabilities, but have those impairments in
social interaction and limitation, fixation, and interests and
activities-repeating which are similar to the symptoms of autism syndrome.
Generally speaking, the features of Asperger Syndrome
include (1) lack of empathy (2) naive and inappropriate, the one-way social
interaction lack of the capacity to establish friendship, which results in the
social isolation (3) pedantic monotonous speech (4) strongly absorbing certain
limited topics in a mechanical memory way, such as weather, things about the TV
channels, train schedules, or maps, etc. but few understand to them, which
reflects the self – trend (5) poor ability to communicate in a non-language way
(6) unwieldy and poorly coordinated movements and strange postures (K lin &
Volkmar, 1995). No significant language or cognitive slower development or
disabilities are the major difference between the autistic syndrome and Asperger Syndrome.TOP
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★Intestinal Neuronal Dysplasia, IND(Hui-ling Wu)
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"Megacolon" means
"huge colon" (Mega means huge, colon means the large intestine or
colon), and may be caused by some congenital
causes, and may also be inherent changes caused by other diseases (such as
toxic megacolon caused by enteritis). The incidence of Hirschsprung's disease
is about one per 5,000 live births, the number of boys is more than that of
girls, the possibility of suffering the same disease in the family is about 7%,
while in the same family of those patients with the "long-section
type" disease, the suffering incidence is up to 20%.
The large intestine lack of nerve ganglions is usually stretching upward from
the anus. The length of intestine without ganglions can be shortened merely
several centimeters over the anal portal (ultra-short-section type); it also
can be up to the entire colon (the long-section type, or the type with the
entire colon without nerve ganglions), even to the small intestine. All are
lack of nerve ganglions cells, but the vast majority of the disease may violate
the section from the descending colon to the rectum where the incidence is the
highest (three quarters).
Generally speaking,
after entering into a normal man’s mouth, food is digested through the moving
of intestines and is discharged through the anus when it is changed into
excrements. This complex process may make the entire digestive system as the
most cooperative team in the world, if we eat more oily food, intestines will
move slower, and if we eat more little-flavored food, intestines will move
faster. The function cooperation of all kinds of intestines in our bodies is completed
mainly by the message conveying of the nerves, so if the nerves are damaged,
the whole moving of intestines will be
in a disorder state, and their functions will decline, while the damaged large
and small intestines will lose their normal functions, and some parts of the
rectum will also change big.TOP
The person suffering
from the intestinal nerve cell dysplasia, also known as Hirschsprung's disease,
will make his most intestines lose the normal functions, and a small part of
his eating things may be digested by the body’s shaking from his walking
around, the other food unable to be digested may be decomposed by the bacteria
after it makes the intestines greater, then the gas from the bacterial
decomposition to food even enlarge the intestines, that is why those patients
have a big belly.
As for the treatment to this disease, the
first and important is to deal with its complications. After the condition of
patients is stable, then the colon lack of nerve ganglions will be removed and
the colon having normal nerve ganglions will be sutured to the anus. However,
the neonatal surgery is usually divided into two phases. First, the large intestine having ganglions will be pulled out the abdominal wall to make an “artificial anus” (make an slit in the part before
the intestine section absent of ganglions so as to let wastes discharged through
this slit and avoid wastes piling up inside), when the patients grow up and have
a better physical body (mostly in 3-6 months), the second operation will be
carried out to close the artificial anus and complete a appropriate anastomosis
for the normal colon and the abnormal colon.
The reason is that the nerves in the pelvic of newborns are very
meticulous, the surgery may affect the nerves and other structures around
surging areas, and it would increase the incidence of the sequela if performing
the surgery prematurely. Recently, there is also a new surgery way that has
been completed, but the feasibility of the way must be assessed by physicians.TOP
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