FAQ - Congenital, Hereditary, and Neonatal Diseases and Abnormalities
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Can a disease be both congenital and hereditary?


A congenital disease is one that happens in-utero and isn't passed down from generation to generation. A hereditary disease is one that is passed down from generation to generation. So, can a disease be both congential and hereditary? (For example, polydactyly happens in-utero, but it's passed down from parents.)
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Yes.
You've got your terms a little mixed up.
Congenital just means present at birth, so all hereditary disorders are technically congenital, they are present at birth even if they don't manifest until later in life.
Congenital diseases also result from exposure to toxins in utero, diseases during pregnancy, random mutations, among other things.  (+ info)

Which of the following statements about hereditary diseases is NOT true?


A.Heredity diseases are caused by abnormal chromosomes or defective genes.
B.Heredity diseases are inherited from one or both parents.
C.Heredity diseases may involve a single gene, more than one gene, or a chromosome.
D.Heredity diseases are a result of a person’s lifestyle.
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Yeah, D is the correct answer.  (+ info)

What other abnormalities are associated with hemivertabra/congenital scoliosis?


My daughter was born in January 2006. In July of 2006 through a routine chest x-ray she was diagnosed with hemivertabra at T3 (vertabra not fully formed) and a missing rib. She saw the pediatric orthopeadic doctor 3 times. At 16 months she died of sepsis as a result of undiagnosed asplenia (absence of spleen). I am wondering if her doctor should have ordered other tests when the scoliosis was diagnosed.
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I'm so sorry to hear the news of your daughter.

I'm unaware of other conditions associated wtih congenital scoliosis. Not that there aren't any, but I've never heard of any in the groups that I read.

Take care.  (+ info)

What are the diseases or abnormalities in the epithelial tissue?


Give me some notes about them
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Hi Double N,

Firstly, I think before we get to the main diseases and abnormalities of the epithelial tissue , we should get familiar with the epithelium itself ( which you might already know, but I will just try to make it as concise as possible ).

In medicine, epithelium tissue is composed of cells that line the cavities and surfaces of structures through out the body. The skin is the most obvious example , also the lumen of bodies and inside cavities are also covered by epithelial tissue.

There are many types of epithelial tissue. Depending on how the cells are arranged , we have

- Simple squamous epithelium : blood vessels
- Stratified squamous epithelium : the skin
- Simple columnar epithelium ( where the cell looks like well, a column ) : the stomach lining, intestines
- Simple cuboidal ( cube-like ) : thyroid
- Psedostratifed columnar ( complex , layers of cell arrangment ) : vas deferens , epididymis...
- .......and many more

So from that, there are many diseases and abnormalities involving the epithelium, ranging from physical accidents ( such as burns ) , to cancer , infection , allergies , hypersensitivity and specific auto-immune diseases of the epithelia , ranging from mild to severe.

Perhaps the most well-known disease that involves the skin surface is maglinancies of the skin ( skin cancer ) , but even that we have many types of skin cancer

- Basal cell carcinoma : The most common human cancer , lesions are slow growing and ulcerated , pearly edge ,usually occur on the face of an elderly individual. The tumour invades locally but rarely spreads. Cure rate is high, up to 90%.

- Squamous cell carcinoma ( involved the squamous epithelium that is said above ) : second most common , this type of cancer is increasing with age due to excessive exposure to UV light ( sunlight ), more common in pale skin individuals , X-irradiation exposure , arsenic injection... . Clinical features include keratotic nodules , exophytic ( kinda potruding / prominent ) erythematous nodules , infiltrating firm tumors , ulcers. Surgical excision with a 3 to 4 mm margin has been reported to have a cure rate of 90% or more ).

- Maglinant melanoma : increasing over the decades , due to mostly excessive exposure to UV light , mortality rate is about 25%. Therapies for this tyoe of cancer is very poor , hence it is very imporant to catch it early. Clincal features involve the expanding and irregularly pigmented plaque/macule with color variations...however , biopsy and histological examination of the suspected tumor must be done thoroughly. Common management includes surgical excision , rarely radiotherapy, chemotherapy is used if cancer has proceeded to stage 3. Also for highly risk metastasized individuals , interferon alpha can be used. The usual thumb of rule for prognosis is the thicker the later stage the tumor , the less rate of survival within 5 years.

That was some diseases for the skin , next is disease of the stomach

The epithelial lining of the stomach can be affected by many factors such as viruses , bacteria , physical damage such as smoking , excessive consumption of coffee.

- peptic ulcer : astric and duodenal ulcer

Most common culprit : Helicobacter Pylori

In developed countries, there has ben a steady rise of infection of this bacterium , especially with age. while in developing world, more children have acquired this bacterial infection. The majority remains healthy and asymptomatic , only small minority develop clincal disease. the bacteriuam stimulates chronic gastritis by provoking local inflammatory resonse in the underlying EPITHELIUM. This may lead to ulceration ( damage to the epitheliume) , also gastric atrophy and hypochlorhydia which allows bacyera to proliferate and produce mutagenic nitrites which predispose to the development of gastric cancer.



There are many more diseases involving the epithelia , many of them even though are not mainly aiming at the epithelia , but for many pathogens , to get inside the organs, they need to pass the epithelia surfaces to which that wreck havoc, causing necrosis , damage, ulcerations. Some diseases induce a domino effects that may lead to epithelia damage such as diabetes , causing ulceration and necrosis of the extremities , such as the feet due to poor circulation.

If you have specific question about a disease , please post it , if you need my attention , please send me an email , but I am sure many others will be able to answer them.



  (+ info)

Can I sue the pet store that sold me my dog if she has mange?Is it a Hereditary/congenital disease?


Hinojoss..
Mange is a catch-all term for various skin conditions that include scabies or sarcoptic mange in dogs. It is not hereditary / congenital. Sarcoptic mange afflicts dogs, cats, and other animals, including humans. It is caused by the notoedres mite, which burrows into the skin and causes intense itching, irritation, and skin thickening. The animal will scratch or bite at the itchy areas. Humans can get scabies from handling an affected animal, characterized by intense itching, worse at night, inside the arms or on the waist, chest, hands, or wrists. The good news is that this mite cannot reproduce on human skin, so the infestation ends within three weeks unless there is additional exposure. The diagnosis of scabies is made by skin scrapings or a skin biopsy of the patches of baldness. It cannot be made simply by observation, because it resembles other skin conditions like ringworm, demodectic mange, and allergies, which require different treatment. However, locating these mites microscopically can be difficult; in these cases, observing for typical signs of sarcoptic mange and treating accordingly is the only alternative. The treatment consists of weekly injections of Ivermectin for up to four weeks. However, Collies, Shetland Sheepdogs, Old English Sheepdogs, and other herding breeds do not tolerate Ivermectin. For these dogs, multiple dips in the insecticides Lyme Sulfur or Paramite are recommended after clipping the affected areas. Dandruff shampoos can also help. Cortisone relieves the itching. Infected sores can be treated with topical antibiotics. Because sarcoptic mange is so contagious, all household pets must be treated, whether they are symptomatic or not. In addition, proper nutrition and exercise are important in fighting this condition. Whether you take legal action is a matter between you and your lawyer. If it can be proved that the mange originated at the location where you purchased the animal, then if they admit it, they may well have to pay for any treatment. Symptoms are thought to be the result of a severe allergic reaction to the mite. Just a few mites can cause severe generalized pruritus (itchiness), which sometimes persists after therapy due to the allergic component of this disease. The incubation period (time until clinical symptoms become apparent) can be as long as 3 weeks after exposure. If you purchased the animal within this period, there may be a case to answer.

Hope this helps
Matador 89  (+ info)

What hereditary diseases can have the chances of getting them reduced by having a healthy lifestyle?


cancer, heart disease, diabetes, hypertension, and many more  (+ info)

How does Hereditary diseases works?


I see patients who has the same kind of sickness as their parents do , or at least it runs in the family.What causes heriditary diseases to happen?
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they work just like any other trait. normally disease are reccessive and don't show up unless both partners carry the gene. for example, way back when during the days of where kings and queens held all the power in england they had arranged marriages. they were paired with cousins, even sometimes brothers and sisters because it was believed that royal blood was the same as jesus, so they tried to keep any "commoner" from marrying into the family. this way their blood stayed "pure." however, because they were so closely related they carried many of the same traits. one of those recessive traits was hemophilia (a disease that prevents your blood from clotting well). hemophilia turned out to be the reason for many deaths in the royal family.

when parents have children their genes are split with the children. if the parents don't know that they have a desease in their family like hemophilia they may give it to thier kids, but only if both parents carry the same trait. it takes to reccessive genes to show up, but one dominant can over power most reccessive.  (+ info)

What are the major heart diseases of congenital origion in utero?


Tricky question, CHD. Here is a list of congenital heart diseases:

Specific Conditions

* Aortic Regurgitation(American Heart Association)
* Aortic Stenosis (AS)(American Heart Association)
* Arrhythmogenic Right Ventricular Dysplasia: What You Should Know(American Academy of Family Physicians)

Also available in Spanish

* Atrial Septal DefectFrom the National Institutes of Health(National Heart, Lung, and Blood Institute)
* Atrioventricular Canal Defect(American Heart Association)
* Coarctation of the Aorta(Mayo Foundation for Medical Education and Research)
* Complete Atrioventricular Canal (CAVC)(American Heart Association)
* Congenital Valve Defects in Adults(Cleveland Clinic Foundation)
* Ebstein's Anomaly(Mayo Foundation for Medical Education and Research)
* Heart Murmurs and Your Child(Nemours Foundation)



* Hypoplastic Left Heart Syndrome(American Heart Association)
* Innocent, Physiological and Functional Heart Murmurs(American Heart Association)

* Patent Ductus ArteriosusFrom the National Institutes of Health(National Heart, Lung, and Blood Institute)
* Patent Foramen Ovale(Mayo Foundation for Medical Education and Research)
* Pulmonary Artery Stenosis(Cleveland Clinic Foundation)
* Pulmonary Atresia(American Heart Association)
* Pulmonary Valve Stenosis(American Heart Association)
* Single-Ventricle Defects(American Heart Association)
* Tetralogy of FallotFrom the National Institutes of Health(National Heart, Lung, and Blood Institute)
* Total Anomalous Pulmonary Venous Connection(American Heart Association)
* Transposition of the Great Arteries(American Heart Association)
* Tricuspid Atresia(American Heart Association)
* Truncus Arteriosus(Mayo Foundation for Medical Education and Research)
* Velocardiofacial SyndromeFrom the National Institutes of Health(National Institute on Deafness and Other Communication Disorders)

* Ventricular Septal DefectFrom the National Institutes of Health(National Heart, Lung, and Blood Institute).

Follow this link:

http://www.nlm.nih.gov/medlineplus/congenitalheartdefects.html  (+ info)

How long do you think it would be before Doctors can fix DNA abnormalities to cure many diseases?


Since researchers have finally discovered the complete DNA helix a few years ago, the possibilities and the potential are closer. Unfortunately, it'll still take a long time before a major breakthrough is discovered to cure many major diseases and disorders.  (+ info)

What type of disease are these diseases?


Here are the diseases:

Cardiovascular disease
Asthma
Type II Diabetes
Fetal alcohol syndrome
Type I diabetes

The options for each is the same:
a. Autoimmune
b. Congenital
C. Degenerative
D. Hereditary

If you know any or all of them, please help me out!

Thanks.
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