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Ataxia-telangiectasia (AT), also known as Louis-Bar syndrome, is an autosomal recessive, multisystem disorder characterized by progressive neurologic impairment, cerebellar ataxia, variable immunodeficiency with susceptibility to sinopulmonary infections, impaired organ maturation, X-ray hypersensitivity, ocular and cutaneous telangiectasia, and a predisposition to malignancy. The responsible gene (ATM gene) causes defective DNA repair due to exposure to UV, gamma, and X-radiation.

The disease is reported worldwide with an estimated frequency of 1 in 100,000 births. It occurs in all races and equally in both sexes.

Death typically occurs in early or middle adolescence, usually from bronchopulmonary infection, less frequently from malignancy, or from a combination of both.


Look For
Bilateral dilated conjunctival vessels, first noticed in the angles of both eyes, spread horizontally in the mid region of the conjunctivae, toward the corneal limb. They may subtly involve the internal ears, the eyelids, cheeks, and the antecubital and popliteal fossae.

Features of aging skin are frequent signs of AT, including gray hair, atrophic and even sclerodermoid facial skin, sometimes with atrophic areas resembling varicella scars.

Pigmentary changes are frequent, occurring in a mottled pattern of hyperpigmentation and hypopigmentation with cutaneous atrophy and telangiectasia. Other skin changes include café au lait spots, usually single rather than multiple; hyperpigmented macules resembling large freckles; vitiligo; seborrheic dermatitis; keratosis pilaris; warts; and, in female patients, hirsutism of the arms and the legs.

Chronic seborrheic blepharitis is frequent, stimulating in association with the ocular telangiectasia, a blepharoconjunctivitis.

Diagnostic

Ocular telangiectasias may be mistaken for conjunctivitis; however, the background is pink with conjunctivitis, while telangiectasias are dilated vessels against a white background.

Oculomotor abnormalities can occur resulting in deficiency of both horizontal and vertical saccades. Later on this can actually lead to complete supranuclear paralysis of gaze.

Older children have an appearance of premature aging.

Tests
The most constant markers are elevated levels of AFP and carcinoembryonic antigen and chromosomal abnormalities, especially inversions and translocations involving chromosomes 7 and 14, though neither of these abnormalities is always found, and their demonstration requires specific techniques available in only a few centers.

Immunologic abnormalities
IgA deficiency is found in approximately 70% of patients with AT.
A deficit in IgG2 and IgG4 subclasses has been demonstrated in several patients, and IgE may also be absent or low.
Defects of cellular immunity include a low lymphocyte count, a poor response to skin tests to common antigens, low T-lymphocyte proliferation in the presence of mitogens, and deficient antibody production to viral or bacterial antigens.
Increased chromosomal breakage after exposure of cell cultures to ionizing radiation is of rapidly increasing diagnostic importance, though not yet a routine procedure. Such tests have been considered for the prenatal diagnosis of A-T but are being supplanted by DNA diagnosis.

Protein-truncation testing of the entire ATM complementary DNA (cDNA) reveals as much as 66% of truncating mutations in the group with mutant alleles.

Radiologic findings of decreased or absent adenoidal tissue in the nasopharynx on lateral skull radiographs are so typical in AT that they are of value in confirming the diagnosis.

Electrooculography is valuable in corroborating the characteristic oculomotor abnormality of AT and differentiating AT from Friedreich ataxia.

Management
Provide genetic counseling to all patients with AT and their family members.

Regular surveillance of heterozygotes for cancer should be part of family management. ATM heterozygosity was reported to be a risk factor for breast and lung cancers. ATM carriers are also suggested to be more vulnerable at X-radiation because, in many cases, breast cancer occurrence was preceded by X-ray exposure.
Therapy
No specific treatment is available. Control of secondary infection has been the mainstay of therapy. Prevention of infections by regular injection of immunoglobulins is considered useful.

Treatment of neurologic manifestations is disappointing. Beta-adrenergic blockers may improve fine motor coordination in some cases.

X-rays should be avoided as much as possible.

Deferoxamine was shown to increase genomic stability of AT cells and may present a promising tool in AT treatment.

This video talks about Ataxia telangiectasia | causes, symptoms, and pathology of Ataxia telangiectasia | USMLE Step 1

VDJ recombination: https://www.youtube.com/watch?v=C44LZoF96IA&t=17s
Isotype switching: https://www.youtube.com/watch?v=Gvq48XrzMTY&t=28s




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---- 🧾 Description -------------------------------------------

Knowing is half of the battle!

Although Ataxia telangiectasia can neither be treated nor it has a specific therapy for the neurological problems associated with this disease. But knowing about this diseases can be helpful in many ways!

Ataxia Telangiectasia
Ataxia Telangiectasia (A-T) is an autosomal recessive disorder primarily characterized by:

✔️ Immunodeficiency
✔️ Cerebellar degeneration
✔️ Ocular telangiectasia

Etiology Ataxia telangiectasia
It is often referred to as a genome instability or DNA damage response syndrome. It is the damage on the 14th chromosome that has caused by breakage and translocation. This causes defects in the gene loci for TCR and immunoglobulins.

This condition can lead to sinopulmonary syndrome that is characterized by:

✔️ Sinusitis
✔️ Lung Infection

Therapy is symptomatic as there is no cure for this disease!

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#appendixcancer #pseudomyxomaperitonei #acpmp #2022 #symposium

At ACPMP's 2022 annual symposium, the University of Chicago regional session featured a myriad of presentations. From helpful tips for managing your care and preoperative considerations to eating healthy when you have cancer.

To learn more, explore more resources found here: https://acpmp.org/about-appendix-cancer/
To get the full list of speakers and topics covered in this video, check this out: https://acpmp.org/2022-symposium-videos/

Help assist ACPMP in our mission to fund research, raise awareness, and find a cure for every patient suffering from PMP and Appendix Cancer here: https://acpmp.org/get-involved/

#appendixcancer #pseudomyxomaperitonei #acpmp #2022 #symposium

Part 1. At ACPMP's 2022 annual symposium, Dr. Edward Levine presented everything you need to know about Appendix cancer. The first part of our event covered various topics, from how it is diagnosed to treatment options.

To learn more, explore more resources found here: https://acpmp.org/about-appendix-cancer/
To get the full list of speakers and topics covered in this video, check this out: https://acpmp.org/2022-symposium-videos/

Help assist ACPMP in our mission to fund research, raise awareness, and find a cure for every patient suffering from PMP and Appendix Cancer here: https://acpmp.org/get-involved/

In the past, it has been generally thought that appendix cancer is not hereditary. However, Dr. Andreana Holowatyj and her team were recently the first to discover a familial (also called genetic) link to appendix cancer. In this webinar, Dr. Holowatyj—Chair of the ACPMP Research Foundation Scientific Advisory Board—will sit down with the ACPMP Research Foundation to talk about:

• This new finding that one in every 10 patients with appendix cancer have a genetic change associated with cancer predisposition, published in JAMA Oncology [https://jamanetwork.com/journa....ls/jamaoncology/arti
• Consideration of genetic testing for all patients with appendix cancer, and how this information may identify at-risk family members who could then benefit from cancer prevention and surveillance options.
• How you can participate in a clinical study to help learn more about this hereditary link to appendix cancer—the Genetics of Appendix Cancer (GAP) Study [www.gapcancerstudy.org].
• Your questions about appendix cancer genetics, including how to find a certified genetic counselor in your area.

Check out this clip from our Surgeon Q&A with Dr. Bret Schipper to hear how HIPEC can be used to treat LAMN & Appendix Cancer! 📽️

Visit HipecTreatment.com/profile/dr-bret-schipper to schedule a conversation with the surgeon featured in this HIPEC Highlight, or go to HipecTreatment.com/locate-a-hipec-treatment-center to browse our network of HIPEC specialists & get in touch with a HIPEC surgeon near you today! 👍

What is HipecTreatment.com and how can we help you? 🤷‍♂️

While HIPEC improves, extends and saves the lives of more and more cancer patients each year, the specialized nature of the procedure means not all hospitals and treatment centers are equipped to offer it - which leaves many patients who could benefit from HIPEC either unaware of its existence or unable to find the right treatment centers and surgeons for their exact needs. SO... that’s where we come in! ✋

HipecTreatment.com is the internet’s only centralized database for all things HIPEC. From general information on the HIPEC procedure, new medical studies and real patient stories to interviews with experts, tools to locate HIPEC-capable treatment centers and surgeons near you, and more, we have everything you need to get informed and get connected. Best of all, once you find the right surgeon for you, our appointment booking feature enables you to schedule a conversation with them in just a few clicks. 👩‍⚕️

Follow us on Facebook at www.facebook.com/HipecTreatment for free access to live surgeon Q&A events & check out www.facebook.com/groups/1736098086694972 to join our HIPEC Support Group! ✅

Thanks for watching! 👍

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