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					                                                                                                            V o lu m e 1 , Is su e 1
         P C D Fo u n d a t io n
                                                                                                            O c t ob er , 20 0 3

         PCD NEWS

                                        PULMONA RY H OST DE FENSE                                               AND            PCD
Pulmonary Host De-                  1   The main function of the lungs is to pro-        delicate pulmonary structures. The debris-
fense and PCD                           mote the exchange of life-sustaining gases,      laden mucus blanket is propelled by ciliary
PCD Family Education                2
                                        primarily oxygen (O2) and carbon dioxide         action toward the large airways where it
Event                                   (CO2). The most efficient way to accom-          can be cleared by cough and either expec-
                                        plish this is by breathing in large quantities   torated or swallowed. Mucus-secreting
Scout Fundraiser                    3   of oxygen from the atmosphere through            glands within the epithelial layer continu-
Know What you Grow!                 3   the nose and mouth. Because outside air          ally produce and release mucus into the
                                        is not sterile, the act of breathing intro-      airway where it is absorbed into the mov-
The Importance of Pa-               4   duces many contaminants into the sterile         ing mucus stream.
tient Groups                            airway, including bacteria, viruses, pollut-
PCD Foundation Wish                 5   ants and other irritants. To allow the lungs     In PCD, structural or functional defects of
List                                    to perform their vital function in the face of   the cilia interfere with MCC action. Con-
                                        this external bombardment, the respiratory       taminants are allowed to collect on the sur-
Respiratory Medica-                 7
                                        tract is protected by a marvelously bal-         face of the airway, and additional mucus is
tion Guide
                                        anced system known as “pulmonary host            produced in response to the threat of air-
Journal Watch                       8   defense.” The system is complex, but re-         way contamination. Excess mucus be-
                                        lies mainly on the interaction of three ma-      comes a breeding ground for harmful or-
Contact Information                 8
                                        jor components: mucociliary clearance            ganisms, and soon a “vicious cycle” of mu-
                                        (MCC), effective cough, and adequate im-         cus production, contamination and conse-
                                        mune defenses.                                   quent inflammation and/or infection can
                                                                                         set in. However, people with PCD have a
Did You Know…                           Mucociliary Clearance                            very effective secondary defense system
                                        PCD (primary ciliary dyskinesia) is essen-       that helps to prevent some exposure to
♦ Although the clinical syndrome        tially a mucociliary clearance (MCC) disor-      contaminants. It is called cough clear-
  now known as PCD was identi-          der. MCC is a term that describes the in-        ance.
  fied in the medical literature as     teraction of respiratory cilia with the mucus
  far back as 1904 and was recog-
  nized as a distinct disease entity    lining found in the upper and lower airways      Cough Clearance
  in the 1950’s (Kartagener, et al),    to move contaminants up and out of the           When the MCC system is overwhelmed,
  it is still not recognized with an    airways. MCC has traditionally been con-         cough clearance is the second line of de-
  ICD-9 code—the standardized
  disease coding system used by
                                        sidered the main component of a function-        fense. Effective cough relies on three
  insurance companies and man-          ing pulmonary host defense system.               phases. The first, an inspiratory "gasp,"
  aged by the American Medical                                                           fills the lungs to total capacity. During the
                                        The respiratory tract is lined with tissue       second phase, sudden closure of the glot-
♦ The incidence of PCD is com-          called ciliated epithelium. Cilia--motile        tis (area at the back of the tongue) com-
  puted by doubling the estimated       hair-like structures--protrude from this lin-    bined with respiratory muscle activity helps
  incidence of Kartagener syn-          ing. There are approximately                     to build pressure in the chest cavity. Re-
  drome in the general popula-
  tion. Since the diagnosis of          10,000,000,000 (ten billion!) cilia per          laxation of the glottis precedes the third
  Kartagener syndrome is fre-           square centimeter in the respiratory tract.      (expulsive) phase of cough. The speed at
  quently missed, there is good         They beat constantly and in a coordinated        which the air flows through the airways is
  reason to suspect the incidence
  of PCD is much greater than           fashion at a rate of 5-50 beats per second.      elevated during the expulsive phase, and
  currently estimated.                  The cilia are submerged in a layer of liquid     can reach up to three-fourths the speed of
                                        that facilitates their beating motion. A         sound in the larger central airways! This
♦ Primary ciliary dyskinesia also
  appears as a clinical syndrome
                                        blanket of sticky mucus covers the cilia         airflow helps to propel mucus toward the
  in animals including dogs and         and liquid layer. This mucus blanket traps       mouth to be either expectorated or swal-
  pigs.                                 debris, preventing it from contaminating         lowed.
                   PULMONARY HOST DEFENSE                         (CONTINUED FROM PAGE 1)

PCD results in     The chronic, wet-sounding cough so famil-      inflammation and/or infection can over-
                   iar to PCD patients indicates that cough       whelm the immune defenses and promote an
serious                                                           exaggerated immune response, triggering the
                   clearance is being recruited by the pulmo-
impairment of      nary host defense system. While cough          “vicious cycle” of chronic respiratory disease.
                   alone cannot prevent the system from be-
mucociliary        coming overwhelmed, it is an important         Summary
clearance— an      contributor to overall lung health.
                                                                  The pulmonary host defense system is a bio-
important          Immune Defenses                                logical marvel. Complex and perfectly bal-
                                                                  anced, it is remarkably successful at keeping
component of
                   If a contaminant is able to get past the de-   the respiratory system healthy and func-
pulmonary host     fenses provided by MCC and cough, micro-       tional. For people with PCD, profound disrup-
                   scopic cellular defenders found in airway      tion of MCC may compromise their pulmo-
                   mucus go to work to protect the system.        nary host defense system. Airway clearance
                   The role of airway defense molecules is        therapy and mucus-thinning medications can
                   very complex and not entirely understood.      enhance the effectiveness of MCC by reduc-
                   However, it is known that airway mucus         ing the mucus load in the airways and pre-
                   contains substances that inhibit the           venting infection.
                   growth of bacteria and cell bodies that
                   trap and remove debris.                        An in-depth discussion of pulmonary host defense and
                                                                  mucociliary clearance by Michael Knowles, MD and Rich-
                   Most people with PCD have normal airway        ard Boucher, MD is available online in the Journal of
                                                                  Clinical Investigation:
                   mucus composition. However, chronic

                   PCD Foundation Family Education Event
              2    First Annual PCD Event Held in Minneapolis, July 18-20, 2003

                   The first annual PCD Family Education          On Saturday afternoon, Dr. Ann Auburn of the
                   Event was held in Minneapolis July 18-20,      Born Clinic presented alternative medicine
                   2003. Attendees from the United States         options for PCD, based on her positive experi-
                   and Canada had the opportunity to meet         ence with PCD patient, Gina Manning. A vig-
                   face-to-face and to discuss ciliary dysfunc-   orous question and answer session with all
                   tion and its consequences with leading ex-     the speakers took up the rest of the Saturday
                   perts in the field.                            program.

                   The event opened with a Friday night recep-
                   tion where the 60+ participants got to know
Special Thanks     each other in a relaxed atmosphere. The
to our Family      Saturday morning program focused mainly
Event Sponsors     on pulmonary concerns for people with
                   PCD, and began with a research overview
● The Vest
                   by Dr. Margaret Leigh from the University of
                   North Carolina, Chapel Hill. Dr.’s John Car-
● Advanced Res-    son (UNC) and Jeff Wine (Stanford) de-
  piratory, Inc.   scribed ciliary function and the interaction
● Chiron Corpo-    between mucus and cilia and explained the
  ration           consequences of impaired mucociliary func-
                   tion in PCD. Dr. Jordan Dunitz from the Uni-              PCD Group Photo Sunday, July 20
                   versity of Minnesota Transplant Center
                   talked about prevention of end-stage lung
                   disease and gave encouraging statistics
                   about lung transplant success.
                                                                  (continued on page 3)
Scouts Raise Money for PCD                     by Dianne Horncastle

Greece, NY Cub Scouts Give Good Will                 family pets joined the walk to help earn
                                                     money for the PCD Foundation.
Scouts from Pack 14 (Longridge, Barnard
and 42 schools) took to the 390 trail to cele-       Scout families earned $306 dollars through
brate their health and to walk/ride 2 miles          friend, family and neighbor sponsorship.
to raise funds to benefit the health of oth-         The money was used to pay airfare and
ers. Mothers, fathers, grandparents and              lodging for a PCD patient to attend the Fam-
                                                     ily Education Event in Minneapolis last July.

    Bikes, scooters and smiles as the Scouts            Scouts Al Molinari, Austin Collyer, Ryan Clark, Richie Ehrne,
                                                        Aaron Malin, Joey Sturgis, Larry Winkie, Sean Grape, Jason
              begin their walk/ride

PCD Family Education Event (continued from page 2)
Sunday morning started with a talk by Dr.            attendees actively participated. A highlight
Laura Orvidas from the Mayo Clinic on treat-         of this session was a demonstration by Toy
ment options for chronic sinus and ear prob-         and Timmery Adams of their at-home sinus
lems associated with PCD. Dr. Jane                   and ear suctioning procedure using a Rain-                         3
Braverman spoke about the history of cilia           bow vacuum cleaner!
and the discovery of ciliary dysfunction, fol-
lowed by another question and answer ses-            Tapes of the sessions are now available.
sion with the remaining speakers.                    Please check the PCD Foundation website
                                                     at for more informa-
The program wrapped up Sunday afternoon              tion. We are working on dates for next
with a group discussion on the psychosocial          year’s event, which is tentatively planned
issues faced by people with PCD. Dr. Leigh           for Chapel Hill, North Carolina. Information
moderated the discussion, and many                   will be posted to the website periodically.•

K N O W W H AT Y O U G R O W !
Respiratory infection is an inevitable conse-        ease in humans are called pathogens. For
quence of compromised pulmonary host                 people with compromised immune defenses,
defense. Knowing what grows in your per-             typically harmless microbes can become
sonal “microbe garden” can be very useful            pathogenic. These bugs are referred to as
in assessing disease progression, determin-          opportunistic organisms and the resulting
ing risk for opportunistic infection, and di-        illnesses are called opportunistic infections.
recting future treatment. Important terms            For this discussion, we will focus primarily on
defined in this article are in bold.                 bacteria that are implicated in common and
                                                     opportunistic respiratory infections in PCD.
The term microbe describes any of a group
of microscopic or submicroscopic organisms           When bacterial infection is suspected, a cul-
(bacteria, viruses, fungi, etc.). Many mi-           ture is done to identify the offending organ-
crobes are harmless and/or life-sustaining.          ism(s).
Microbes that are capable of causing dis-                                          (con’t on page 6)
                                                                                                                          V o lu m e 1 , S p e cia l I n s e rt
          P C D Fo u n d a t io n
                                                                                                                          O c t ob er , 20 0 3

Welcome to the first edition of PCD News, a quar-      were a mess, my marriage was in shambles, and         ment of a charitable arm (The Vest Founda-
terly publication for the primary ciliary dyskinesia   we were at a complete loss as to what to try next     tion) willing to sponsor a PCD group at Ad-
(PCD) community. PCD News will be available in         for this child. When we finally got the diagnosis,    vanced Respiratory, and 3.) Meghan’s 18th
an electronic format and can be sent to your           it was such a relief to have a name for what was      birthday, and the realization that her transition
private e-mail address or accessed via the PCD         wrong that it never occurred to me that there         to adulthood and independence would allow
Foundation website at           would be no specific treatment and little agree-      me to focus my healthcare advocacy energy
We will also publish a limited number of hard          ment about the prognosis.                             elsewhere.
copies for regular mail distribution.
                                                       Working as a medical research assistant and           The UNC group (Dr.’s Peadar Noone, Margaret
PCD is an umbrella term for inherited disorders        writer for a cardiac surgery group at the time, I     Leigh, Aruna Sunnuti, Michael Knowles, John
of ciliary structure and/or function. This group of    had access to medical journal articles at the         Carson, Maimoona Zariwala, etc.) were instru-
disorders includes Kartagener syndrome, immo-          University of Minnesota. I immediately collected      mental in helping to identify PCD opinion lead-
tile cilia syndrome, and ciliary aplasia, among        all the information I could find and created a        ers and researchers around the world. Be-
others. The clinical complications of PCD are          PCD bibliography. However, much of the pub-           cause of their exceptional reputation for respi-
diverse, but chronic infections of the lungs, si-      lished material was contradictory or speculative.     ratory research, they brought immediate credi-
nuses and ears are nearly universal. Infertility       The clinical picture of PCD was far from clear.       bility to PCD as a topic for genetic investiga-
and subfertility are also common, as the result of     Partly, this was because researchers and physi-       tion. They were very supportive of the idea of
impaired motility of reproductive structures           cians dealing with PCD were working in isolated       a patient group.
(sperm tails and Fallopian tubes). Other less          pockets. There was no central rallying point for
common conditions have been reported in PCD,           PCD research or treatment like the patient            Armed with this support, I approached the
including congenital heart defects, biliary atresia,   groups that had so successfully focused cystic        newly created Vest Foundation and asked for
a/polysplenia, and hydrocephalus. Unfortu-             fibrosis (CF) and alpha-1 (alpha 1) anti-trypsin      some “seed” money to establish a patient
nately, because of a lack of coordinated data          deficiency research. I was more convinced than        group for PCD patients. They were very recep-
collection, the true clinical picture of PCD is not    ever that we needed to organize.                      tive to the idea and offered to sponsor the
entirely understood.                                                                                         group until we could get up and running on our
                                                       Meghan racked up over 40 hospitalizations be-         own. This allowed me to concentrate on or-
Why a Patient Foundation?                              tween diagnosis and age 18. As a single parent        ganization goals instead of being bogged down
My name is Michele Manion and I am a PCD par-          with two children, I was preoccupied with pre-        in non-profit paperwork.
ent (my 20-year-old daughter, Meghan, was diag-        serving Meghan’s respiratory health while trying
nosed at age 7). Based on the frustration my           to earn a living. The goal of starting and main-      Enlisting the volunteer effort of some friends
family experienced in getting Meghan’s diagnosis       taining a PCD patient group was still important to    (Jane Braverman, PhD, and Meghan) we de-
and finding appropriate treatment, I determined        me, but I didn’t see how I could manage my            cided to see what sort of public reaction the
years ago that I wanted to be an active partici-       “real” life and still push for an organization.       PCD Foundation would receive by exhibiting at
pant in the patient group(s) devoted to PCD. I         Plus, I had few contacts with other PCD families      the American Thoracic Society (ATS) confer-
was anxious to talk to other parents about their       and wasn’t sure how to coordinate the effort.         ence in Atlanta in 2002. We designed a
experiences, feeling at times that I didn’t even                                                             graphic, borrowed a booth, and prepared
know how I should feel about this diagnosis.           A Lucky Break                                         some literature for distribution.
Was it serious? Was it no big deal? I felt I got       In the late 90s I went to work in the clinical mar-
conflicting information from doctors, but the evi-     keting division of Advanced Respiratory, Inc. (The    Around this time, I was contacted by Lynn
dence of my eyes was that this kid was sick— a         Vest™ people). As it turned out, this position        Ehrne who had gotten my name from UNC. I
lot. On the other hand, when she wasn’t sick she       perfectly suited my background and interest in        told her about the ATS meeting, and she told
seemed so well it was hard to know how seriously       pulmonary health. I was “immersed” in mucus           me about the e-group she moderated on Ya-
to take the problem. I was devastated to find          issues daily and I loved it! In this role, I commu-   hoo. I was developing the clinical contacts
that there was no group, and felt more isolated        nicated daily with patients and professionals         and she was instrumental in coordinating pa-
than ever.                                             representing a variety of disease states, includ-     tient communication. It was clear that by com-
                                                       ing hundreds of PCD patients. Additionally, I had     bining efforts we could move things forward.
As with all projects, the notion that maybe I          the opportunity to develop relationships with         Plus, Lynn was the group “cheerleader” who
should just go ahead and start a patient group         organizers from other patient groups and to get       had absolute faith in our ability to succeed.
developed over time. Eventually my frustration at      their advice. I also had the opportunity to attend
the guesswork involved in treating PCD over-           major respiratory conferences and learned a           Lynn was excited about our ATS debut. I was
came my intimidation about not knowing how to          great deal about pulmonary disease. Without           excited, but also nervous. What if none of
create a “foundation.” Clearly research and the        exception the other non-profit groups agreed          these physicians or researchers cared about
attention of the medical community were desper-        that the first step was to identify the “opinion      PCD? What if they thought the patient popula-
ately needed. Experienced or not, we needed a          leaders,” the physicians and researchers most         tion was too small to bother with? I wondered
dedicated patient group.                               involved in research on PCD, and to arrange a         what would happen to our goals if crucial phy-
                                                       meeting to garner their support.                      sician support were lacking. As it turned out, I
Meghan-The Early Years                                                                                       needn’t have worried. The response was over-
Meghan was 7 at the time of her diagnosis in           Three factors emerged in 2001 that made me            whelming! By the end of the event, we had
1990. By that time, we had run the gamut of            feel it was time to get the ball rolling: 1.) The     270 contacts from interested physicians and
specialists, false diagnoses, lengthy hospital         success of the PCD research project at the Uni-       researchers in 13 countries. The general sen-
stays, and ineffective therapies. Our finances         versity of North Carolina (UNC), 2.) The establish-   timent was “what took you so long?”

Clearly it was time to organize a scientific meeting focused on PCD. I           organization? Two reasons, 1.) the name PCD Organization was already
contacted researchers, including Matthias Salathe from the University of         taken, and 2.) one of our major goals is to raise funds to finance re-
Miami. In addition to his ciliary research, Dr. Salathe organizes an inter-      search projects. The name seems a little “lofty” when you consider that
national group of researchers, The Mucus, Cilia, and Mucociliary Interac-        the PCD Foundation is currently me sitting at my dining room table with
tion Interest Group, which meets every two years. Dr. Salathe invited us         an antiquated computer, trying to keep the cats out of the printer (I also
to co-sponsor their upcoming meeting in November, 2002. With funding             have a “mobile” office when I plug my phone into my car lighter). How-
from The Vest Foundation, we had our first scientific symposium devoted          ever, we will grow into our name, not because we should or because it
to PCD.*                                                                         would be nice, but because we have to. Here’s why:

The goal of most scientific meetings is to assess the current state of re-       There are three primary genetic lung diseases; CF, alpha-1, and PCD.
search and to develop priorities and strategies for future research. The         CF and alpha-1 are both well-organized and well-funded. The research
Miami meeting allowed us to bring together the small international com-          sponsored by these organizations has helped countless people with any
munity of researchers who were collaborating with UNC in identifying             number of disorders. PCD is unique in that it is an impairment of a ba-
PCD genetics. The efforts of this group were hampered by a shortage of           sic component of a system that is present in every human being, the
funding and of “raw material” (patients with the disorder who could pro-         pulmonary host defense system. Treatments derived from research
vide genetic samples). The need for more research on nasal nitric oxide          done in PCD can potentially benefit not only PCD patients and their fami-
measurements, a promising screening tool for PCD, was also discussed.            lies, but the millions of people affected by other respiratory diseases, as
Another problem identified and addressed in Miami was the difficulty in          well. The importance of this research is already appreciated by top pul-
finding clinicians and pathologists willing to make the diagnosis, even          monary experts. Our job is to spread the word, find the funds, and not
when PCD is suspected.                                                           allow PCD to get lost in the world of “orphan” diseases.

From this information, we began to brainstorm the idea of a PCD treat-           PCD Foundation—The Future
ment network, similar to the “Centers of Excellence” established by the          Lack of basic operating funds is the single most critical threat to our
CF community. The PCD network centers would be instrumental in devel-            survival at the moment. With the change in our relationship with The
oping standards of care for PCD and would serve as “diagnostic” centers          Vest Foundation (due to a corporate merger), things like our toll-free
for other physicians without access to the necessary resources. There is         number, access to postage and printing supplies, and support for con-
tremendous interest in this concept and it is still in development. As           ferences is gone. Payments for web hosting, a PO Box, etc. are being
usual, the funding required to establish this network is currently not avail-    donated by individuals, but it is a hardship for some of the people in-
able, but we (PCD Foundation, UNC folks, etc) are diligently trying to find      volved. We need your ideas and help with fundraising! We are also
the funds.                                                                       working with a fund-development consultant (on a percentage of money
                                                                                 raised basis) who has some good ideas for creating revenue. Please
Patient Power                                                                    remember that I am no more of an expert than any of you (and probably
So we had gauged PCD interest at ATS, convened interested parties in             less than some of you!) at making this work, so don’t hesitate to share
Miami, and developed a preliminary strategy for improving PCD care.              ideas, make suggestions, etc. If they are not implemented right away,
Now we needed to get patient perspective and involvement. Several                it’s most likely because we can’t afford to, not because they are not
patients were already actively participating in PCD Foundation projects,         appreciated! Together, we will make this happen!
but we wanted to encourage everyone to feel a sense of ownership in the
foundation. We started with the first annual PCD Family Education Event          Michele
(see article in newsletter) in Minneapolis. It was a wonderful chance to
get to meet each other, share stories, and learn about PCD. The speak-           *To give you an idea of the costs involved in conference appearances and meet-
ers also helped to graphically represent the frustration experienced by          ing sponsorship, the cost for us to attend ATS (even at the discounted non-profit
physicians at the lack of PCD treatment information available to them.           rate for booth space) and associated charges for staffing the booth, etc. was
The most stunning example of this was a slide presented by Dr. Dunitz of         $6,130. Our portion of the Miami meeting (airfare and lodging for participants—
                                                                                 we were not able to afford to pay our speakers) was $23,000. For ATS (and sev-
the University of Minnesota. The slide addressed the issue of existing           eral other conferences), The Vest Foundation picked up the cost in its entirety.
evidence physicians can turn to when determining appropriate treatment           For the Miami meeting, we raised about $7,000 and the Vest Foundation picked
for PCD patients. It was blank!                                                  up the rest. We are very grateful to The Vest Foundation for their generosity and
                                                                                 for championing the cause of PCD. If you would like to send a thank you to the
The PCD Foundation Today                                                         Board members, please let me know and I’ll forward their e-mail addresses.
So why are we a “foundation,” a name that implies a money dispensing

PCD Foundation Wish List
Many of you have expressed a desire to help and have asked about spe-            In-Kind Donations
cific areas of need. This list will give you an idea of short and long term      Non-cash gifts to charitable organizations are known as “in-kind” dona-
needs (in addition, of course, to general operating funds).                      tions, and their value is tax-deductible.
                                                                                 -Microsoft Access Software
Volunteers                                                                       -EndNote 5.0 software
-Board Members: We are in the process of becoming an independent non-            -Monitor for computer
profit (501(c)(3)) organization. When this happens, we need to be gov-           -Pop-up tabletop graphic display (for 10’ booth)
erned by a Board of Directors (Vest Foundation Directors provide this gov-       -File cabinet
ernance now). Ideally, the board will be made up of individuals with busi-       -Items for a “silent auction” event tentatively planned for this winter.
ness, medical, marketing, legal and practical experience, and at least           -Web design expertise
some of them will be directly impacted by PCD (parents or patients). To          -Cell phone and service
satisfy NORD (National Organization for Rare Disorders) requirements, the
board must be geographically diverse (cannot all be from the same area),         Cash Donations
cannot be paid, and must actively engage in fundraising efforts for the          -Sponsor printing of PCD Foundation letterhead and envelopes (est.
group. If you are interested, or know of anybody who might be, please let         $250)
me know right away.                                                              -Sponsor printing of PCD Newsletter (est. $500)
-Booth Staff: There are several conferences coming up that we hope to            -Sponsor PCD website ($40/month)
attend, particularly ATS in Orlando, Florida this May. If you live in the area
and would be available to help at the booth, that could save us a lot of         If you are interested in any of these opportunities, please contact Lynn
money in airfare and lodging.                                                    Ehrne at

                    K N O W W H AT Y O U G R O W ! ( C O N T I N U E D              FROM    PAGE   3)

aeruginosa is an    A small sample of the suspect body fluid or           results for the physician. While the smear re-
example of an       tissue is wiped on the surface of a growth me-        sult will not identify the specific bug, it will
opportunistic       dium or agar that promotes rapid reproduc-            identify the major bacterial family and whether
bacterial organ-    tion. Because bacteria are clear, a staining          or not the specific organism is Gram-positive
ism. P. aerugi-     process is typically used for visual identifica-      or negative. It will also quantify the bacterial
nosa is found in    tion. The Gram stain procedure is a common            load or amount of organism found relative to
abundance in        first step in preparing for microscopic exami-        the sample using a 1 - 4+ scale. A preliminary
the environ-        nation of cultured material. A sample from            culture report may say something like “2+
ment, especially    the culture medium is smeared on a slide and          Gram-negative rods.” This tells the physician
in wet areas        heated to fix the bacteria. Crystal violet (blue)     that the problem bug is one of the Gram-
such as sinks       stain is then applied to the slide and washed         negative species in the family Bacilli, and that
and drains.         off with water and iodine after 60 seconds.           the bacterial load is currently moderate. With
However, infec-     An alcohol solution is then rinsed over the           this information, the physician can start appro-
tion with P.        slide, and a red counter-stain is applied. De-        priate antibiotic treatment while waiting for
aeruginosa is       pending on the physical and chemical proper-          the results of the final culture, which will posi-
very rare in the
                    ties of the outer membrane of the bacteria,           tively identify the offending organism(s).
general popula-
                    either the blue or the red dye will adhere. If
                    the bacteria retain a blue tint they are called       When a specific organism is identified, the lab
                    Gram-positive. If they pick up the red tint,          will assess antibiotic sensitivity. By subjecting
                    they are Gram-negative.                               the infectious organism to antibiotics known
                                                                          to be effective in treatment, it is possible to
                    Two major bacterial families of concern to            target antibiotic therapy to the specific bug,
                    PCD patients are Cocci (spherical bacteria)           and to determine if the bug is a resistant
                    and Bacilli (rod-shaped bacteria). When re-           strain. The entire process is known as culture
                    ferring to specific bacteria, it is customary to      and sensitivities and it is standard practice in
                    use both the genus and species names, itali-          most laboratories.
                    cizing both and capitalizing the genus (e.g.
                    Staphylococcus aureus). Some labs abbrevi-            There are currently no specific recommenda-
                    ate by using just the first letter of the genus       tions for frequency of sputum culture collec-
           6        and the whole species name (e.g. S. aureus).          tion in PCD patients. However, it is important
                    It is important to identify both genus and spe-       for all people with chronic lung disease to get
                    cies because not all organisms in the Cocci           sputum cultures at least at annual check-ups
                    and Bacilli families are harmful to humans,           and more frequently when ill. Routine cultures
                    and because the presence of certain species           can help to direct antibiotic therapy, deter-
                    indicate opportunistic infection—a clue to look       mine antibiotic resistance, and assess pro-
                    for underlying disease.                               gression of disease. Keeping track of your cul-
                                                                          ture and sensitivity results will enable you to
                    Within 24 hours of sample collection, most            work with your physician for optimal results.
                    labs will have smear (preliminary culture)

The presence of     Family           Genus            Species       Gram -/+ Transmission Common         Considered Op-
infection with an                                                                         Pathogen       portunistic
opportunistic       Cocci            Staphlyococcus   aureus        +        Airborne     yes            yes
organism is im-     (spheres)
portant because                      Streptococcus    pyogenes      +        Airborne      no            no
it may indicate
significant un-                                       pneumoniae +           Airborne      yes           no
derlying dis-
ease.               Bacilli (rods)   Pseudomonas      aeruginosa    -        Airborne      ?no           yes

                                     Haemophilus      influenza     -        Airborne      yes           no
                                     Klebsiella       pneumoniae -           Contact       yes           yes

                                     Moraxella        catarrhalis   -        Contact       yes           yes

                    Common respiratory “bugs”
Respiratory Medication Guide
Inhalers, nebulizers, antibiotics! What do they                Reactive airways may cause the bronchial
all do and why do I need so many of them? As                   tubes to become swollen and the muscle                           DO YOU HAVE A
                                                                                                                                STORY TO SHARE? Or
we have seen from our discussion of pulmo-                     bands around them to constrict. Trapped
                                                                                                                                a request for specific
nary host defense, the respiratory system is                   mucus in the airways can pool into thick                         information related to
complex and many physical processes must                       plugs, which become a breeding ground for                        PCD? We’d love to
work together for it to function. Most respira-                infection.                                                       hear from you! Send
tory medication regimens are designed to pre-                                                                                   your ideas to:
vent two destructive processes: inflammation                   As the chart below shows, respiratory medi-                      info@pcdfoundation.
and infection.                                                 cation therapy is targeted to treat these un-                    org, or mail to the
                                                               derlying issues. Steroids and non-steroidal                      address on the back
When confronted with an insult (pollutant, in-                 anti-inflammatory drugs (NSAIDS such as
fectious agent, irritant, etc.), the body                      ibuprofen) are primary treatment for inflam-
launches a chemical counterattack known as                     mation. Bronchodilators and muco-
the inflammatory response. Inflammation is a                   lytics are used, often prophylactically with
natural and necessary part of immune de-                       airway clearance therapy, to keep the air-
fense. However, when the inflammatory re-                      ways open. Clear, unrestricted airways are
sponse is exaggerated or is sustained for pro-                 less prone to inflammation and provide a
longed periods of time it can cause damage to                  receptive environment for other medica-
delicate tissue.                                               tions, such as antibiotics. Your physician
                                                               will work with you to develop a treatment
Infection is the result of successful contamina-               plan for your specific needs.
tion by a pathogen. Infection also triggers a
chemical counterattack with consequent in-                     There is considerable interest in developing
flammation. It is possible to have inflamma-                   combination products to reduce the time
tion without infection, but infection will always              required for daily treatments and in design-
be accompanied by inflammation.                                ing additional drugs (antibiotics, steroids)
                                                               that can be inhaled into the lungs and si-
Two chronic problems complicate the treat-                     nuses. The goal of inhaled therapy is to re-
ment of inflammation and infection for people                  duce systemic drug side-effects and to more                                   7
with lung disease: reactive airways and abun-                  directly impact areas of infection and/or in-
dant, thick pulmonary secretions.                              flammation.

  Drug Class:        Defined:              Used to Treat:  Routes of Administra- Examples:          Comments:
  Bronchodilators    Broncho: airway Airway constric- Oral or inhaled via        Oral: theophylline
                     tubes              tion and tightness meter-dose inhaler Inhaled/MDI: al-
                     Dilate:                               (MDI) or nebulization buterol
                     open or expand                                              Nebulized: al-
                                                                                 buterol, Xopenex®
  Mucolytics         Muco: pertaining Thin out pulmo- Oral or inhaled via        Oral or inhaled/ Oral route gener-
                     to mucus           nary secretions nebulizer                neb: Mucomyst® ally used for GI
                     Lysis: dissolution                                          Inhaled/neb: hy- problems only,
                     or decomposition                                            pertonic saline,   as in CF.

  Antibiotics        Anti: against         Infection from a   Oral, inhaled, intrave- Oral: Cipro®, Aug-   TOBI® is a de-
                     Bios: life, in this   bacterial organ-   nous (IV)               mentin®              rivative of tobra-
                     case unwanted         ism                                        Inhaled/Neb:         mycin. It is the
                     microbial life                                                   TOBI®                only antibiotic
                                                                                      IV: tobramycin,      currently cre-
                                                                                      Claforan®, vanco-    ated specifically
                                                                                      mycin                for inhaled use.

  Steroids          Stereos: solid         Inflammation       Oral, inhaled, intrave- Oral: prednisone
                    Oleum: oil                                nous                    Inhaled: Pulmi-
                    An organic com-                                                   Cort®,
                    pound related to                                                  IV: Solu-Medrol®
  Combo Medications Product with two       Generally for air- Inhaled                Advair®
                    or more drugs,         way constriction
                    usually a bron-        and inflammation
                    chodilator and a
 PCD Foundation

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                                             Journal Watch NEW ARTICLES OF INTEREST TO THE PCD COMMUNITY
                                             The National Library of Medicine (NLM) maintains a database of peer-reviewed arti-
                                             cles from international medical journals. The peer-review process means that the
PCD News Editorial Staff
                                             article is subject to vigorous critical review by a panel of experts prior to being ac-
Michele Manion                               cepted for publication. This information can be accessed by the public at:
Lynn Ehrne                          or by typing “entrez pubmed” into your inter-
Jane Braverman, PhD
                                             net provider search function.
Contributors to this Issue

Dianne Hardcastle                            When you enter a query (e.g. primary ciliary dyskinesia) into PubMed, a list of arti-
                                             cles will appear, most recent at the top. Click on each article for a link to its ab-
Clinical Review
                                             stract, or brief overview. Often, the abstract provides enough information and there
Michael Knowles, MD, University of North     is no need to get the full article. If the full article is desired, there are several ways
Carolina, Chapel Hill
                                             to obtain it; 1.) universities with medical schools frequently maintain a large inven-
Send Comments/Questions/Submissions          tory of medical journals. Copies of articles from these journals are usually available
to:                                          to the public for a small fee, 2.) articles can be ordered from the publisher for a
Michele Manion, Editor                       (typically exorbitant) fee, and 3.) the PCD Foundation maintains a bibliography of
PCD News                                     many articles and may be able to provide a copy.
4752 Park Avenue
Minneapolis, MN 55407
                                             ♦   Chilvers, MA. Ciliary beat pattern is associated with specific ultrastructural defects in
Circulation Information                          primary ciliary dyskinesia. Journal of Allergy and Clinical Immunology September, 2003,
PCD News is published quarterly by the
PCD Foundation. A voluntary subscription         volume 112; issue 3, pgs 518-524.
fee of $15 per year is requested to cover
the costs of production.                     ♦   Csoma, Z. Nitric oxide metabolites are not reduced in exhaled breath condensate of
                                                 patients with primary ciliary dyskinesia. Chest August, 2003, volume 124; issue 2, pgs
This publication is provided for general         633-638.
information only and is not intended to
replace the advice of your medical profes-   ♦   Pizzi, S. Clinico-pathological evaluation of ciliary dyskinesia: diagnostic role of electron
sional. Please consult your physician
before making any changes to your treat-         microscopy. Ultrastructural Pathology July-August, 2003, volume 27; issue 4, pgs 243-
ment regimen.                                    252.

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