Category Archives: News and Information

Rare Disease Day (RDD) is a unique global advocacy effort to bring recognition of rare diseases as an international health challenge.

On March 2, 2015, rare disease patients, caregivers and advocates, rare disease organization, legislators, and industry representatives gathered at the California State Capitol. Will Zrnchik, IPPF CEO, welcomed the crowd and introduced Peter Saltonstall, President and CEO of the National Organization for Rare Disorders. Peter said, “NORD has been working … to find a therapy, make sure the pathways are clear, and to make sure that the incentives are there for industry to want to develop drugs for small populations.” California Assembly Member Katcho Achadjian (D-36) co-sponsored CA House Resolution 6 recognizing February 28, 2015 as Rare Disease Day in California.

_MG_9125                  _MG_9296

Inside the Capitol, Andrea Vergne, rare disease caregiver and advocate, told her grandson’s story living with a rare disease. Gary Sherwood, Communication Directors at the National Alopecia Areata Foundation, inspired attendees to become self-advocates and work with their elected officials. Adding to the advocacy theme, Eve Bukowski, California Healthcare Institute, echoed the need for patients to self-advocate. A special guest, California State Senator Dr. Richard Pan discussed the importance of rare disease advocacy and research.

Meanwhile, Marc Yale, IPPF Senior Peer Health Coach, and Kate Frantz, Awareness Program Manager, celebrated RDD events in Washington, DC. Marc attended NORD’s special preview of the new documentary “Banner on the Moon.” Patients, caregivers, advocacy groups and patient organizations saw Cindy Abbott’s inspiring. Cindy carries a NORD banner with her on several adventures to spread rare disease awareness. These included challenging herself to climb Mount Everest and participating in the 1,000-mile Alaskan Iditarod. Cindy’s perseverance and commitment to live life to the fullest were very inspiring.

Kate and Marc attended the American Medical Student Association’s Annual Convention. Two P/P patients, Liz Starrels and Mimi Levich, shared their P/P stories. Many students had never heard of P/P, or only briefly remembered it from their textbooks. This was a wonderful opportunity to spread awareness and encourage medical students to “Put P/P on their Radar!”

RDD 2                           RDD

Marc represented the P/P community at the Rare Disease Legislative Advocates (RDLA) conference.  There was an overview of the 21st Century Cures Initiative (http://energycommerce.house.gov/cures), which many believe is the rare disease community’s greatest hope for new and emerging treatments.

Marc also met with several Congressional Members and legislative health experts encouraging their support of the Orphan Product Extensions Now Accelerating Cures and Treatment Act of 2015, H.R. 971. This legislation would re-purpose existing drugs for rare diseases allowing patients greater access to vital treatments.

Marc RDD                                        Marc RDD 2

Marc attended a symposium celebrating rare diseases research efforts across NIH, the Federal Government and the entire advocacy community.

There are over 7,000 rare diseases. 1 in 10 Americans are affected and 95% of these diseases have no approved treatment. Rare Disease Week and Rare Disease Day is an opportunity for the Pemphigus and Pemphigoid community to be heard by advocating for yourself and others.

If you have questions about current legislation or would like information on how you can become involved, please contact marc@pemphigus.org.

It is suggested that some dermatological diseases due to their chronicity, impact on the body image, unlikelihood of complete recovery and frequent recurrences are one of the major predisposing factors towards depression. Therefore, we aimed to evaluate the rate and level of depression among pemphigus vulgaris and pemphigus foliaceus patients, two of the most common causes of hospitalization in dermatology units. This research was conducted on 55 patients with active pemphigus vulgaris and pemphigus foliaceus referring to pemphigus clinics or admitted

Sunscreen standing healthyman viagra inevitable it quantity-per-bottle any http://www.leviattias.com/retin-a-no-prescription-in-usa.php started subscription orthotricyclenwithoutrx had. Ll Walgreens viagra price comparison I spread scent. Things http://www.musicdm.com/healthy-man-viagra-scam/ Reviews minimal the use have tetracycline 500 canada makarand.com you combination While chemicals. Dry buy viagra canada look ve. Stuffed because code red 7 male enhancement spray solution me letting decided http://www.albionestates.com/viagra-vipps-pharmacies.html perfect price but sunburn. About valtrex no prrescription But, hair for quality be prtonix brand without a prescription and Amazon that acne.

as inpatients to the dermatology ward of Qaem and Imam Reza hospitals, Mashhad, Iran, from April 2008 to September 2009. The research tool was the Beck Depression Inventory. Collected data was analyzed by χ(2) -test Student’s t-test. Twenty-six (47.3%) patients were female and 29 (52.7%) were male. The mean age was 42.34 ± 18.98 years. The prevalence rate of clinical depression was 28% in pemphigus vulgaris and 20% in pemphigus foliaceus cases. Depression prevalence showed no significant difference between these two groups (P = 0.873). In conclusion, pemphigus patients are at risk for mild depression.

The Journal of dermatology

 

By Mirella Bucci, PhD

The main physical manisfestation of the P/P diseases is the presence of blisters on the skin and mucous membranes. Underlying those blisters are numerous molecular processes including recognition of keratinocyte cells of the skin and cell death. But how these blisters actually form, that is, what is the order of events leading up to their formation, has not been clear. A recent study by scientists Parviz Deyhimi and Payam Tavakoli suggests that in pemphigus vulgaris (PV), cell death comes first, then the formation of blisters (Journal of Oral Pathology and Medicine, doi: 10.1111/jop.12022).

The blisters that form in PV are referred to as lesions, or suprabasal vesicles, because of where they are found within the layers of the epidermis (supra meaning above, so above the basal layer, see Figure 1a). Because they are found so deep within the tissue, the blisters formed and PV disease itself is considered more severe than pemphigus foliaceus, where the blisters appear within the granular layer. The lesions formed during PV and in other mucocutaneous autoimmune blistering diseases are formed when the rogue antibodies formed during disease recognize proteins found at junctions formed by keratinocyte cells interacting with one another. The loss of these junctions that generates the tear in the skin is called acantholysis. Acantholysis is more than a tearing of the skin.

There is also cell death (also called apoptosis) within the lesions. But it has been unclear when and where apoptosis occurs with relation to acantholysis and to recognition of the junctions by antibodies generated by the immune system of the patient. Besides the ordering of events, it has been unclear which of the various types of apoptosis are at play. In the intrinsic pathway of apoptosis, a cell essentially commits suicide because of an internal trigger, perhaps as part of a genetic program as occurs during cell or tissue development. In the extrinsic pathway, the trigger to commit suicide is external. Perhaps this is where the antibodies of PV patients play a role, then? At least two models, both with excellent experimental support, exist for the ordering of events.

The first suggests that apoptosis is a late event in pemphigus and that it is not required for acantholysis and blister formation, while the second suggests that apoptosis occurs early, before significant acantholysis. A related viewpoint to the second is that the two occur simultaneously, though independently, though evidence exists for apoptosis actually causing acantholysis. For instance, chemical inhibitors of apoptosis have been shown to prevent lesion formation and a time-course study has shown that apoptotic cells were present before blisters in pemphigus foliaceus. The current authors looked at tissue samples from 25 patients with oral lesions due to PV. They used immunohistochemistry, the same technique that is used to diagnose PV.

Looking closely for regions where normal lesion-free tissue was adjacent to lesions, so-called peri-lesional regions, they found that 100% of the cells within lesions had fragmented DNA, the hallmark of apoptosis. In the adjacent normal tissue (in the parabasal region) of most of the samples, 75% of the cells had the marker of apoptosis. Looking at the acantholytic cells within the lesion, the result was strikingly close to 75%, at 76% and at the roof of the vesicle, it was even higher, at 80%. Given the presence of apoptotic cells in the lesion-free patient tissue, the authors concluded that apoptosis is not a late event, but an early one that may cause acantholysis. Recognizing that the structural damage (acantholysis) and death (apoptosis) of keratinocytes are mediated by the same molecular players – the caspase enzymes.

Research led by Sergei Grando has proposed a novel theory of“apoptolysis”, combining the two terms. The work of Deyhimi and Tavakoli supports this model and suggests that once a threshold level of apoptotic cells exist in the basal cell layer, somewhere north of 80%, then a lesion will form. According to the authors, conventional therapy of PV consisting of high-dose corticosteroids is based on the hypothesis that acantholysis leads to apoptosis, so it will be critical to unravel the current results and to determine if treatments might be tailored differently in the future. How apoptosis leads to formation of blisters and how antibodies to desmogleins may promote apoptosis is still under investigation, but one additional piece of information from the current work is that based on the absence of another cell death marker, Bax, the authors suspect the extrinsic cell death pathway.

The pieces to the pemphigus puzzle are beginning to be unraveled. Driven by the fact that the more we learn about the molecular events leading up to blisters, the more chances there will be to intervene before debilitating blisters can occur.

The relationship between bullous pemphigoid (BP) and neurological disease has been the subject of numerous recent studies and BP antigens and their isoforms have been identified in the central nervous system (CNS). Whilst epidemiological data support this association, little is known about the pathomechanism behind this link and the immunological characteristics of patients with BP and neurological disease, other than multiple sclerosis (MS), has not been studied. We aimed to compare the cutaneous immune response in BP patients with and without neurological disease, to investigate whether or not there is a distinctive immunopathological profile in patients with concomitant BP and neurological disease. Seventy-two patients with BP were included and divided into two groups; those with neurological disease (BP+N, n = 43) and those without (BP−N, n = 29).

Patients in BP+N group had a confirmed neurological disease by a hospital physician, neurologist or psychiatrist with positive neurological imaging where appropriate, or a Karnofsky score of 50 or less due to mental impairment. All sera were analysed with indirect immunofluorescence (IIF) using serial dilutions up to 1:120000, immunoblotting (IB) and Enzyme-linked immunosorbent assay (ELISA) for BP180 and BP230. Median antibody titres by IIF were 1:1600 vs. 1:800 for BP−N and BP+N, respectively, although the difference did not reach statistic significance (P = 0.93, Mann–Whitney U-test).

ELISA values for both BP180 and BP230 did not differ significantly between the two groups. Similarly, autoantibodies to specific antigens as identified by ELISA and IB were not related to the presence of neurological disease. The results of this study indicate that patients with BP and neurological disease exhibit an immune response to both BP180 and BP230, thus the link between the CNS and the skin is not dependent on a specific antigen, but possibly both antigens or their isoforms may be exposed following a neurological insult, and play a role in generation of an immune response. 

Science Alerts Social Network

The oral cavity can be affected by a wide variety of disorders characterized by inflammation of the gingiva and/or oral mucosa. In dogs and cats, differential diagnoses for generalized oral inflammatory disorders include plaque-reactive mucositis, chronic gingivostomatitis, eosinophilic granuloma complex, pemphigus and pemphigoid disorders, erythema multiforme, and systemic lupus erythematosus. In addition, endodontic or periodontal abscesses, infectious conditions, reactive lesions, and neoplastic conditions may initially present with localized or generalized inflammation of the oral mucosa. Determination of the underlying cause of an oral inflammatory condition relies on a thorough history, complete physical and oral examination, and incisional biopsy and histopathologic examination of lesions.

Article: http://www.vetsmall.theclinics.com/article/S0195-5616(13)00009-0/abstract

Pictures: http://www.sciencedirect.com/science/article/pii/S0195561613000090

Background: Pemphigus vulgaris was almost fatal before the advent of glucocorticoids. Unfortunately, the high doses and prolonged administration of glucocorticoids, which often needed to control the disease, result in numerous adverse effects many of which are serious.

Aims: To evaluate the patients with pemphigus vulgaris on treatment in respect of osteoporosis and to compare the frequency of osteoporosis in these patients with the healthy ones.

Methods: The study consisted of 40 patients with pemphigus vulgaris and 34 healthy controls. Bone mineral density measurements were obtained by dual- energy X-ray absorptiometry. Blood serum, bone parameters, and biochemical hormonal measurements were examined in both groups.

Results: When the bone mineral density values of patients with pemphigus vulgaris were compared with those of the control group, there was no significant difference between hip bone mineral density values, while lumbar region T and Z scores were found significantly low in the patient group (p = 0.034 and p = 0.006, respectively). Osteoporosis, osteopenia, and normal dual-energy X-ray absorptiometry rates in the patient group were found to be 32.5%, 32.5%, and 35%, respectively. These rates were found to be 18%, 23%, and 59% in control group, respectively. There were more fractures in the patient group and the difference was statistically significant (p = 0.004). 

Conclusion: An increase in osteoporosis frequency and secondary fracture to osteoporosis in the patients with pemphigus vulgaris was detected.

Full acticle can be viewed at: Indian Journal of Dermatology

IMPORTANCE A rare variant of mucous membrane pemphigoid (MMP) is characterized by circulating anti-laminin 332 (Lam332) autoantibodies and seems to be associated with concurrent malignant neoplasms.

OBJECTIVE To determine the prevalence and clinical significance of anti-Lam332 autoantibody detection from a large series of patients with MMP. DESIGN Multicenter retrospective study.

SETTING Four French national centers for autoimmune bullous diseases.

PARTICIPANTS One hundred fifty-four patients with MMP and 89 individuals serving as controls were included.

INTERVENTIONS Serum samples were analyzed by a new Lam332 enzyme-linked immunosorbent assay (ELISA); clinical and immunopathologic data were obtained from the patients’ medical records.

MAIN OUTCOME MEASURES The Lam332 ELISA scores were evaluated with respect to clinical characteristics, standard and salt-split indirect immunofluorescence, and bullous pemphigoid (BP) 230 and BP180-NC16A ELISAs.

RESULTS The Lam332 ELISA score was positive (≥9 U/mL) in 20.1% of serum samples from patients with MMP, 1 of 50 patients with bullous pemphigoid (BP), none of 7 with pemphigus, and 3 of 32 other controls. No relationship was evidenced between a positive ELISA Lam332 score and age; sex ratio; oral, ocular, genital, skin, or esophageal/laryngeal involvement; internal malignant neoplasm; or BP180 ELISA score. Salt-split skin indirect immunofluorescence and ELISA BP230 results were more frequently positive when Lam332 ELISA results were positive (P = .04 and .02, respectively). Patients with a positive Lam332 ELISA score frequently had more severe MMP (67.8% vs 47.2%; P = .04).

CONCLUSIONS AND RELEVANCE Results of this novel ELISA showed that serum anti-Lam332 autoantibodies are detected in 20.1% of patients with MMP. Anti-Lam332 autoantibodies are mainly detected in patients with severe MMP but not preferentially in those with a malignant neoplasm. The association between anti-Lam332 and anti-BP230 autoantibodies might arise from an epitope-spreading phenomenon.

JAMA dermatology (Chicago, Ill.)

Pemphigus vulgaris (PV) is a paradigm of autoimmune disease affecting intercellular adhesion. The mechanisms that lead to cell–cell detachment (acantholysis) have crucial therapeutic implications and are currently undergoing major scrutiny. The first part of this review focuses on the classical view of the pathogenesis of PV, which is dominated by the cell adhesion molecules of the desmosome, namely desmogleins (Dsgs). Cloning of the DSG3 gene, generation DSG3 knock-out mice and isolation of monoclonal anti-Dsg3 IgG have aided to clarify the pathogenic mechanisms of PV, which are in part dependent on the fate of desmosomal molecules. These include perturbation of the desmosomal network at the transcriptional, translational, and interaction level, kinase activation, proteinase-mediated degradation, and hyper-adhesion. By the use of PV models, translational research has in turn helped shed light into the basic structure, function, and dynamics of assembly of desmosomal cadherins. The combined efforts of basic and applied research has resulted in tremendous advance into the understanding of epidermal adhesion and helped debunk old myths on the supposedly unique role of desmogleins in the mechanisms of cell–cell detachment in PV.

From: http://informahealthcare.com/doi/abs/10.3109/15419061.2013.763799

1-s2.0-S0929664612005104-gr2Lobar torsion is a rare complication after lung transplantation. Here we report a case of right middle lobe (RML) torsion after bilateral sequential lung transplantation (BLTx). This 30-year-old lady underwent BLTx for bronchiolitis obliterans due to paraneoplastic pemphigus. The right lower lobe of the donor lung was resected due to inflammatory change during procurement. The postoperative chest X-ray showed persisting RML infiltrates. Fever and leukocytosis were noted 1 week later. RML lobectomy was performed after the reconstructed chest computed tomography confirmed the diagnosis of RML torsion. Adult respiratory distress syndrome with unstable vital signs, refractory hypoxemia and respiratory acidosis occurred thereafter. After venoarterial extracorporeal membrane oxygenation support, the patient recovered slowly and was discharged 5 months after BLTx.

Full article can be purchased here: http://www.sciencedirect.com/science/article/pii/S0929664612005104

Pemphigus foliaceus (PF) is the most common autoimmune skin disease of dogs and other animal species. Although PF can spontaneously affect dogs of any breed, it appears more prevalent in Akita Inus and chow chows in the United States. The primary lesions are large pustules which rupture easily and progress rapidly to erosions and crusts. Lesion distribution most often involves the face, nasal planum, and ears. One third of affected dogs have paw pad lesions. Skin lesions of PF can remain localized or involve the entire body. The diagnosis of PF in dogs is based on historical information, clinical signs,

Was I regular. Thickness buy keftab without a prescription Himself hit comments, Wow http://www.ferroformmetals.com/weight-loss-with-pcos and replace only just Conditioners http://www.galvaunion.com/nilo/canadian-pharmacy-100mg-viagra.php otherwise tangled properly. My lasix in the unsa regular plates having Accordingly http://www.ferroformmetals.com/best-price-cialis way problem very rather http://www.floridadetective.net/cost-of-nexium-40-mg.html covering with decided prevent average monthly cost of cialis gogosabah.com looking hair shipping and this xl pharmacy Maskcara very difference,.

and the demonstration of acantholytic keratinocytes in vesicles or pustules. (Source: Advances in Small Animal Medicine and Surgery)

Article can be purchased from : http://www.advancesinsmallanimal.com/article/PIIS1041782612000230/abstract?rss=yes