Pseudo-obstruction study

[Guest guest]

This is a study being conducted out of Boston University looking for a

genetic link with patients who have pseudo-obstruction. If you or your child

has a

diagnosis of this as a primary diagnosis or part of another disease, you can

contact Ann at the e-mail below. Attached is the description of the study

and the questionnaire. The study requires the questionnaire to be completed

and a blood sample from the patient, siblings, and parents (if applicable).

They are looking at DNA but are also looking at mitochondrial DNA and trying to

find the link between mito/other genetic diseases and pseudo-obstruction.

Malisa

I copy/pasted the actual questionnaire into the e-mail for those who can't

open attachments.

----------------------------

Dear Malisa,

It was very nice speaking with you earlier this afternoon. Thank you again

for your willingness to participate in our research study. I have attached

the letter and questionnaire regarding our study. Feel free to share it

with others and have them contact me for further information. I will mail

two kits and the informed consents tomorrow. Have a nice weekend!

Sincerely,

Ann Whalen

Ann Whalen, M.S., C.G.C.

Genetic Counselor

Boston University School of Medicine

Center for Human Genetics

715 Albany St., W408

Boston, MA 02118

phone:

fax:

maryann@...

To: PARTICIPANTS IN INTESTINAL PSEUDO-OBSTRUCTION

RESEARCH STUDY

Our research genetic studies are aimed at determining the gene(s) that are in

some way involved or causally related to Intestinal Pseudo-Obstruction. We

very much appreciate the assistance of all families and understand the

suffering involved and the associated emotional turmoil. In comparing entire

sets of

genes between parents and an affected child (ren), we also need DNA from the

healthy brothers and sisters of those affected. Specifically we need the

following:

1. A blood sample (5-10 cc’s)(1 teaspoon to 1 tablespoon) in

a lavender-top tube, sent at room temperature, airmail express to the Center

for Human Genetics, 700 Albany Street, Room 408, Boston, MA 02118 (617)

638-7083. We will cover the FedEx fee and you may use our account number

(1047-1124-3) for that purpose only. Please be sure that the tubes are labeled

with

each person’s name and birth date (note that the tubes should not be labeled

before the blood is in the tube). Please avoid sending samples over a weekend.

2. Please have each affected individual complete the two

pages of clinical data and return to us by mail.

3. Please contact us with your current address in order that

we may send you the necessary consent forms. Please have each participating

adult sign a consent form. In addition, a parent will need to sign a separate

form for each of their children.

4. Please mail us a copy of any diagnostic medical records

that you feel would provide helpful information.

We are most grateful to you for your participation in our ongoing research

studies. These efforts are extremely time-consuming while we search through

30,000 to 40,000 genes and quick answers cannot be anticipated. However, we

will

be in touch with you immediately should a significant discovery be made by us

or others.

Best wishes.

Yours sincerely,

AUBREY MILUNSKY, MB.B.Ch., D.Sc., F.R.C.P.., F.A.C.M.G., D.C.H.

Director, Center for Human Genetics and

Professor of Human Genetics, Pediatrics, Pathology, and Obstetrics &

Gynecology

Boston University School of Medicine

And

JEFF MILUNSKY, M.D., F.A.C.M.G.

Associate Professor of Pediatrics, Genetics and Genomics

Associate Director, Center for Human Genetics

Director, Clinical Genetics

Associate Director, Molecular Genetics

Boston University School of Medicine

Family Name:___________________________________________________

Affected Individual:________________________ DOB:__________________

PLEASE CIRCLE ALL ITEMS THAT APPLY.

Caucasian African American Asian Hispanic

Other___________

Family History: Pseudo Obstruction/GI problems/deafness/muscular problems

(Please circle)

Method Used to Make Diagnosis/Type of Pseudo Obstruction _______________

Name of Disorder (if known): Neuronal/myopathic/mitochondrial/other_________

Pregnancy:

Uncomplicated

Taken during pregnancy: Alcohol (more than a glass of wine/day)

Medications

(which)___________________________

Drugs

Please indicate: Full term_____ or Premature____ (how many weeks early)___

Age when signs began:

< 6 months 6-12 months 12-18 months 18-24 months > 2 years

Please circle those signs that were more than transient:

· Failure to thrive/poor weight gain ·

diarrhea

· Abdominal distention ·

TPN required

· Abdominal Pain ·

malrotation

· vomiting

· seizures

· constipation ·

developmental delay

· droopy eyelids (ptosis) ·

absent reflexes

· inability to move eyes ·

speech/language

problems

· mitral valve prolapse · no

sweating

· patent ductus arteriosus (PDA) ·

ovarian cysts

· large spleen ·

hearing loss

· enlarged bladder ·

muscle wasting

· urinary retention ·

colon diverticula

· imbalance (ataxia) ·

teeth present at birth

· Add any other signs:

________________________________________________________________________________\

__________________________________

____

Laboratory/Radiology Testing

(Please attach copies of reports)

· abnormal head MRI (if done)

· abnormal muscle biopsy

· abnormal mitochondrial test result

· abnormal echocardiogram

Please return this form along with any additional information to Aubrey

Milunsky, M.D., D.Sc. or Jeff Milunsky, M.D., Center for Human Genetics, Boston

University School of Medicine, 715 Albany Street, Boston, MA 02118