FAQ - Congenital, Hereditary, And Neonatal Diseases And Abnormalities
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What diseases can be found from a blood test?


I'm just getting some routine check-ups done & had a standard blood test. It appears that everything looks normal (from what I was told), although I'm not sure what all the symbols mean. I'm just curious what kind of abnormalities, illness/diseases, etc, can be determined from a simple blood test, & how you get standard testing for other potential diseases (like cancer, etc.)? Do you have to exhibit specific symptoms first, or what other procedures should I look into? Just curious.
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it depends on what test u have done n what test u ask for.
usually, blood sugar, cholesterol, white blood cells etc.. are routine, on ur results papers it tells u , usually with numbers whats with in normal range.  (+ info)

I have a few medical questions (About cancer & congenital diseases)?


Three questions actually:
- Can a benign tumor be fatal? What are some examples?
- Does plague still exist? If so, how is it cured?
- What's the rarest congenital disease, and what's the most common?

Thanks in advance.
(PS: This isn't a homework or anything, I'm purely curious about these 3 things).
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Hmm, a benign tumor may become fatal if it grows in a bad location. For example, a tumor in a blood vessel may break off and form a clot. A benign tumor in the brain or spinal cord can compress those structures and cause paralysis or loss of function, and death if the brainstem is compressed.

Plague still exists, and it is treated with antibiotics.

I couldn't find anything about diseases, but congenital heart defects are the most common malformation, according to a quick Google search.  (+ info)

where will i find the listing of hereditary diseases?


mayoclinic.com  (+ info)

what are examples of pediatric congenital diseases?


Some of the problems of padiatric congenital diseases are shown below:
Every normal looking newborn baby should have a careful physical examination including auscultation of the precordial region, palpation of brachial and femoral arteries and evaluation of blood pressure in the superior and inferior extremities
2. Congestive heart failure in children is related to various mechanical problems- diastolic and systolic overload, valvular regurgitation and myocardial abnormalities
3. Treatment of infective endocarditis
This is an uncommon complication below 2 years of age. It is commonly seen in conditions where a high pressure source ( left ventricle or aorta ) drives blood at high velocity through a narrow orifice( coarctation of aorta, small VSD, small ductus or regurgitant aortic or mitral valves) into low pressure sink (atrium, pulmonary trunk, right ventricle) producing a venturi effect and damage to endocardium.
4. Cardiac catheterization has added a new dimension in the management of congenital heart disease in some conditions provide an effective alternative option to circumvent the surgical management. Interventional catheterization can be grouped into four general types:

Atrial septostomy
Balloon valve dilationss
Vessel Dilations and vascular stents
Occlusion procedures
5. A congenital dermal sinus is a tract lined by stratified squamous epithelium found in, or very near, the midline anywhere from the nasal bridge to the coccyx (tailbone). The tract may end just below the skin surface or may extend to the conus medullaris (part of the spinal cord) or the central canal of the spinal cord from the back, the fourth ventricle from the occipital region, or the crista galli from the nasal bridge.
VR  (+ info)

List of Hereditary diseases?


i want to know some of the diseases which are hereditary in nature
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More common disorders
Disorder Mutation Chromosome
22q11.2 deletion syndrome D 22q
Angelman syndrome DCP 15
Canavan disease 17p
Celiac disease
Charcot-Marie-Tooth disease
Color blindness P X
Cri du chat D 5
Cystic fibrosis P 7q
Down syndrome C 21
Duchenne muscular dystrophy D Xp
Haemophilia P X
Klinefelter syndrome C X
Neurofibromatosis 17q/22q/?
Phenylketonuria P 12q
Prader-Willi syndrome DC 15
Sickle-cell disease P 11p
Tay-Sachs disease P 15
Turner syndrome C X

[edit] 0–9
Disorder Mutation Chromosome
1p36 deletion syndrome D 1p37
18p deletion syndrome D 18p
21-hydroxylase deficiency 6p21.3
45,X
see Turner syndrome C X
47,XX,+21
see Down syndrome C 21
47,XXX
see triple X syndrome C X
47,XXY
see Klinefelter syndrome C X
47,XY,+21
see Down syndrome C 21
47,XYY syndrome C Y
5-ALA dehydratase-deficient porphyria
see ALA dehydratase deficiency
5-aminolaevulinic dehydratase deficiency porphyria
see ALA dehydratase deficiency
5p deletion syndrome
see Cri du chat D 5p
5p- syndrome
see Cri du chat D 5p

[edit] A
Disorder Mutation Chromosome
A-T
see ataxia-telangiectasia
AAT
see alpha-1 antitrypsin deficiency
Absence of vas deferens
see congenital bilateral absence of vas deferens
Absent vasa
see congenital bilateral absence of vas deferens
aceruloplasminemia
ACG2
see achondrogenesis type II
ACH
see achondroplasia
Achondrogenesis type II
achondroplasia substitution 4p16.3
Acid beta-glucosidase deficiency
see Gaucher disease type 1
Acrocephalosyndactyly (Apert)
see Apert syndrome
acrocephalosyndactyly, type V
see Pfeiffer syndrome
Acrocephaly
see Apert syndrome
Acute cerebral Gaucher's disease
see Gaucher disease type 2
acute intermittent porphyria
ACY2 deficiency
see Canavan disease
AD
Adelaide-type craniosynostosis
see Muenke syndrome
Adenomatous Polyposis Coli
see familial adenomatous polyposis
Adenomatous Polyposis of the Colon
see familial adenomatous polyposis
ADP
see ALA dehydratase deficiency
adenylosuccinate lyase deficiency
Adrenal gland disorders
see 21-hydroxylase deficiency
Adrenogenital syndrome
see 21-hydroxylase deficiency
Adrenoleukodystrophy
AIP
see acute intermittent porphyria
AIS
see androgen insensitivity syndrome
AKU
see alkaptonuria
ALA dehydratase porphyria
see ALA dehydratase deficiency
ALA-D porphyria
see ALA dehydratase deficiency
ALA dehydratase deficiency
Alcaptonuria
see alkaptonuria
Alexander disease
alkaptonuria
Alkaptonuric ochronosis
see alkaptonuria
alpha-1 antitrypsin deficiency 14q32.1
alpha-1 proteinase inhibitor
see alpha-1 antitrypsin deficiency 14q32.1
alpha-1 related emphysema
see alpha-1 antitrypsin deficiency 14q32.1
Alpha-galactosidase A deficiency
see Fabry disease P Xq22.1
ALS
see amyotrophic lateral sclerosis
Alstrom syndrome
ALX
see Alexander disease
Alzheimer disease
Alzheimer's disease
see Alzheimer disease
Amelogenesis Imperfecta
see Amelogenesis imperfecta
Amino levulinic acid dehydratase deficiency
see ALA dehydratase deficiency
Aminoacylase 2 deficiency
see Canavan disease
amyotrophic lateral sclerosis
Anderson-Fabry disease
see Fabry disease P Xq22.1
androgen insensitivity syndrome
Anemia
Anemia, hereditary sideroblastic
see X-linked sideroblastic anemia X
Anemia, sex-linked hypochromic sideroblastic
see X-linked sideroblastic anemia X
Anemia, splenic, familial
see Gaucher disease
Angelman syndrome
Angiokeratoma Corporis Diffusum
see Fabry's disease P Xq22.1
Angiokeratoma diffuse
see Fabry's disease
Angiomatosis retinae
see von Hippel-Lindau disease
ANH1
see X-linked sideroblastic anemia X
APC resistance, Leiden type
see factor V Leiden thrombophilia
Apert syndrome
AR deficiency
see androgen insensitivity syndrome
AR-CMT2
see Charcot-Marie-Tooth disease, type 2
Arachnodactyly
see Marfan syndrome
ARNSHL
see Nonsyndromic deafness#autosomal recessive
Arthro-ophthalmopathy, hereditary progressive
see Stickler syndrome#COL2A1
Arthrochalasis multiplex congenita
see Ehlers-Danlos syndrome#arthrochalasia type
AS
see Angelman syndrome
Asp deficiency
see Canavan disease
Aspa deficiency
see Canavan disease
Aspartoacylase deficiency
see Canavan disease
ataxia-telangiectasia
Autism-Dementia-Ataxia-Loss of Purposeful Hand Use syndrome
see Rett syndrome
autosomal dominant juvenile ALS
see amyotrophic lateral sclerosis, type 4
Autosomal dominant opitz G/BBB syndrome
see 22q11.2 deletion syndrome D 22q
autosomal recessive form of juvenile ALS type 3
see Amyotrophic lateral sclerosis#type 2
Autosomal recessive nonsyndromic hearing loss
see Nonsyndromic deafness#autosomal recessive
Autosomal Recessive   (+ info)

can somebody help me to look for a website about the listing of hereditary diseases with their meanings?


Go to Google.com, open Medical on line" they have an exhaustive listing. It will surely help.

And one more thing. In case you feel you are suffering from a
hereditary disease, please stop thinkin that way, as although the genes are passed on the composition of the XY and YX chromosomes vary, and its not like 100% the disease will follow  (+ info)

Hereditary Diseases?


There are a number of hereditary diseases mentioned in the article you read about Iceland’s database. Find out how much of the population in your country suffers from these diseases. Use a chart and illustrate your research in percentages. The diseases to research are: emphysema, Alzheimer’s, multiple sclerosis, osteoarthritis, and schizophrenia.


If anyone could help me this, I would be really grateful. Thanks
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Emphysema, no. Alzheimer's - certianly. MS - certainly. Osteoarthritis - yes. Schizophrenia - there are genetic components, but not actually known for sure.  (+ info)

is unilateral congenital eyelid ptosis hereditary?


Lifeandeath,

"Congenital ptosis may occur through autosomal dominant inheritance(meaning heredity). Common familial occurrences suggest that genetic or chromosomal defects are likely."

"Family photographs can help determine onset or variability of the ptosis. Providing photographs also gives the surgeon a chance to examine the other family members. A patient with a strong family history of congenital ptosis may not need an extensive workup."

Both of these quotes are from http://emedicine.medscape.com/article/1212815-overview

I read the whole article and heredity can play a strong factor in the condition.

Hope this helps.

Devlin B.  (+ info)

What is the difference between CORONARY and CONGENITAL heart disease?


I'm filling out a family health history form for my doctor and it's asking if anyone in my family has had coronary or congenital heart disease. I know my mom has heart disease but I don't know which kind it is. One of the arteries to her heart was becoming blocked and they had to put a stent in that artery to open it back up - it's called angioplasty. Is that coronary or congenital? Thanks.
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Congenital means "from birth." Congenital heart disease is something you are born with, such as a murmur. If her artery is becoming slowly blocked, she does not have congenital disease. Coronary is the build up of plaques inside the artery walls. See attached link :)  (+ info)

How is congenital heart disease related to a faulty signal transduction pathway?


I can find plenty of information on congenital heart disease and plenty of information on cell signaling/signal transduction but i cant find out how they are related can anyone help?
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In some cases of congenital heart disease there are physical malformations that can cause electrical signals from one area of the heart to another area to be attenuated or timed incorrectly. The signal transduction pathway may be operating at the cellular level as it should. If the signals received to initiate the complex process are weak or not timed properly the resulting release of glucose to power the heart muscle may not be sufficient to sustain normal heart function. Muscle contractions may be either weak or not timed properly to co-ordinate with other heart muscles. In some cases there may be a lack of sufficient amount of a particular enzyme which may result in the signal transduction pathway within the cell to function improperly. As you may be aware from your research, normal heart function is a very complex process involving a great number of steps which all must take place in proper sequence. The number of steps within the cell alone are very complex. I hope that gives you some insight on the subject.  (+ info)

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