Podcasts about echinococcus

On episode #76 of the Infectious Disease Puscast, Daniel and Sara review the infectious disease literature for the weeks of 2/27/25 – 3/12/25. Hosts: Daniel Griffin and Sara Dong Subscribe (free): Apple Podcasts, RSS, email Become a patron of Puscast! Links for this episode Viral Trends in respiratory pathogen testing at us children's hospitals (JAMA Network) Changes in respiratory viral testing before and after the covid-19 pandemic(JAMA Network) Expanding measles outbreak in the United States and guidance for the upcoming travel season (CDC Emergerncy Preparedness and Response) Measles cases and outbreaks (CDC Measles (Rubeola)) Facts and myths about measles (LANCET: Infectious Diseases) Protective effects of recombinant zoster vaccine and antiviral therapy against cardiovascular disease following herpes zoster infection (JID) Chikungunya vaccine information for healthcare providers (CDC Chikungunya Virus) Factors to assess when considering use of chikungunya vaccine(CDC) Bacterial Should patients hospitalized forcommunity-acquired pneumonia be treated with additional antimicrobial agents directed against anaerobes? (American Journal of Therapeutics) Antibiotic-induced loss of gut microbiome metabolic output correlates with clinical responses to CAR T-cell therapy(Blood) Effectiveness of ampicillin/sulbactam versus ceftriaxone for the initial treatment of community-acquired pneumonia in older adults: a target trial emulation study(OFID) Male-partner treatment to prevent recurrence of bacterial vaginosis(NEJM) Fungal The Last of US Season 2 (YouTube) Activity of rezafungin against echinocandin non–wild type candida glabrata clinical isolates from a global surveillance program (OFID) Are contemporary antifungal doses sufficient for critically ill patients? Outcomes from an international, multicenter pharmacokinetics study for Screening Antifungal Exposure in Intensive Care Units—the SAFE-ICU study  (Intensive Care Medicine) Parasitic Human alveolar echinococcosis – global, regional and national annual incidence and prevalence rates (CMI: Clinical Microbiology and Infection) Dust to Diagnosis – with MSGERC (FEBRILE) The clinical picture caused by Fasciola gigantica: Analysis of 3,250 patients along the 1995–2019 countrywide spread in Vietnam (OFID) Miscellaneous Reprint of: From medical editors: a call to the global infectious diseases and clinical microbiology community (CMI: Clinical Microbiology and Infection) A hot topic: A climate-focused track for infectious disease fellowship (OFID) Are we being gaslit? A primer for recognizing corporate jargon to overcome gaslighting for the infectious disease workforce (CID) Music is by Ronald Jenkees Information on this podcast should not be considered as medical advice.

Send us a textWhat would you do if your beloved pet faced a life-threatening crisis? Our family went through this unimaginable experience when our cherished dog, Bunsen, suddenly fell ill. Initially feared to be bloat, a dire condition for large dogs, the vet discovered a massive 10-pound growth in his abdomen. We share the emotional whirlwind of those tense days leading up to Bunsen's successful surgery and miraculous recovery—a story that resonated so deeply, it will be featured on CBC news.Strap in for a gripping exploration of Echinococcus multilocularis, a parasitic tapeworm that poses serious risks to both animals and humans. We unravel the complexities of diagnosis and prevention, with expert insights from author Denise Mange. Her expertise in dog training and pet behavior provides a rich layer to our discussion, offering invaluable guidance on safeguarding your furry friends from such threats.Our journey doesn't stop there. Dive into the transformative power of the pet-human bond, where we explore how pets mirror our mindset and emotions. Through Denise's expertise, discover how positive reinforcement has revolutionized dog training, fostering not just obedience but mutual growth and understanding. We also touch on holistic pet care, using Maslow's hierarchy of needs as a framework to ensure our companions are not only safe and secure but also emotionally fulfilled. Join us as we celebrate the profound connection with our pets, and learn how they can guide us in finding our authentic selves.Denine's Links:https://www.amazon.ca/Translating-Your-Pets-Behavior-Approach/dp/B0CZRWPM4DBunsen and Beaker Links to support us!Join the Paw Pack!Our Website!www.bunsenbernerbmd.comSign up for our Weekly Newsletter!Bunsen and Beaker on Twitter:Bunsen and Beaker on TikTokSupport the showFor Science, Empathy, and Cuteness!Being Kind is a Superpower.https://twitter.com/bunsenbernerbmd

In today's VETgirl online veterinary continuing education podcast, Dr. Michelle Evason, BSc, DVM, DACVIM, MRCVS, Global Director of Veterinary Clinical Education at Antech, part of Mars Science & Diagnostics, discusses how to diagnose and treat multi-drug resistant hookworm, deal with Giardia decision-making, and emerging Echinococcus. Tune in to learn what to do about anthelmintic resistance and how to better manage Giardia cases! Learn treatment options for overcoming pesky, resistant GI parasitic infections in pets & get an update on what zoonotic parasite may be emerging near you!Sponsored By: Antech

Send us a textWhat if your dog could be harboring a parasite without showing any signs of illness- and could get infected in your backyard? Tune in as we host Dr. Michelle Evason on Veterinary Vertex, where she sheds light on the emerging health threat of Echinococcus tapeworms in dogs and humans, particularly Echinococcus multilocularis. Michelle reveals the surprising fecal PCR detection of this parasite in new regions of the United States, where it hasn't been reported before, along with detection in Canada. We dissect the complex diagnostic hurdles in dogs, such as mistaking alveolar echinococcosis for liver tumors, and explore the limited treatment options available for this invasive disease. Our discussion underscores the vital need for regular fecal testing in dogs to safeguard both canine and human health within the One Health framework.As we delve deeper into the topic, we emphasize the critical role veterinarians play in educating clients about zoonotic risks, inspired by key insights from a JAVMA article. As Echinococcus multilocularis spreads beyond its traditional borders, it's crucial for veterinarians to be well-prepared to communicate these risks effectively to pet-owners. We uncover startling findings, such as cases in dogs with no travel history to known endemic regions, and address the confusion surrounding public health reporting of this parasite and limited awareness of this potentially deadly parasite. By examining the significant role of wildlife in transmission, we stress the importance of equipping veterinarians with the right tools and knowledge to tackle these evolving health challenges head-on. Join us as we empower the veterinary community to handle these pressing issues with confidence and clarity.JAVMA article: https://doi.org/10.2460/javma.24.07.0471INTERESTED IN SUBMITTING YOUR MANUSCRIPT TO JAVMA ® OR AJVR ® ? JAVMA ® : https://avma.org/JAVMAAuthors AJVR ® : https://avma.org/AJVRAuthorsFOLLOW US:JAVMA ® : Facebook: Journal of the American Veterinary Medical Association - JAVMA | Facebook Instagram: JAVMA (@avma_javma) • Instagram photos and videos Twitter: JAVMA (@AVMAJAVMA) / Twitter AJVR ® : Facebook: American Journal of Veterinary Research - AJVR | Facebook Instagram: AJVR (@ajvroa) • Instagram photos and videos Twitter: AJVR (@AJVROA) / Twitter JAVMA ® and AJVR ® LinkedIn: https://linkedin.com/company/avma-journals

TWiP solves the case of the Man With Dog Exposure, and discuss rapid and spontaneous post-partum clearance of Plasmodium falciparum related to expulsion of the placenta. Hosts: Vincent Racaniello, Daniel Griffin, and Christina Naula Subscribe (free): Apple Podcasts, Google Podcasts, RSS, email Links for this episode Post-partum clearance of P. falciparum (J Inf Dis) Letters read on TWiP 217 Become a patron of TWiP Case Study for TWiP 217 We have two cases today! A man in his 60s who provides IT support for a bank and all done via zoom and remote work is referred to me. He reports having issues after COVID diagnosis Sept 5th, 2022. He had 4 vaccine doses and with diagnosis was treated with Paxlovid. Feel better than about week 3 wakes up with URI symptoms for about one week and by the 28th was improving. He had cold agglutinins detected. Referred to ophtho by his primary with some eye discomfort and noted to have elevated intra-ocular pressure elevation. Sleep and fatigue were a problem but slowly improving. Cognitive issues noted but improving.  He reports an issue a few years prior to this current problem where he developed fever, a sore throat, tender lymph nodes in the neck both in front and in the back. This resolved after about a week but was then followed by months of fatigue, sleep disturbances and not feeling well.  He reports no specific dietary preferences and reports no cat exposures. He saw several physicians and one did a number of blood tests.  A man in his late 30s presented to an ER at an outside hospital prior to ultimately being transferred to an academic center in NYC.. He reports onset of left arm weakness that prompted him to come to the ER. He reports on pointed questioning that he had COVID about one month prior and felt he had fully recovered. He did have a headache that preceded the onset of weakness. The OSH triggers their stroke protocol and perform a head CT which reveals a hypodense lesion on the right side of the brain not consistent with a stroke. A bit more history is obtained, some further testing is done,and based on this the patient is transferred on some sort of therapy. Send your case diagnosis, questions and comments to twip@microbe.tv Music by Ronald Jenkees

Last month, New Hampshire health officials released a health alert after identifying two locally acquired Echinococcus granulosus cases, the first such cases of the parasitic infection in the state. Joining me today to discuss the parasite and the situation is Elizabeth Talbot, MD. Dr. Talbot is the New Hampshire Deputy State Epidemiologist, a professor at Dartmouth College and an infectious disease specialist.

Dr. Brian Herrin and Dr. Kamilyah Miller join us from Kansas State University. They are heading up the Echinococcus study, which is a nasty parasite coyotes carry. https://www.facebook.com/HerrinLab https://www.herrinlab.org/ Sponsors: www.hoosiertrappersupply.com www.j3o.com www.toplotstretcherco.com www.wiebeknives.com www.furtakersofamerica.com www.nationaltrappers.com Click the link below to Donate. Thank you https://www.paypal.com/donate/?business=7MBMKUYZSRGC2&item_name=Thank+you+for+supporting+the+podcast%21¤cy_code=USD

Christina from Glasgow returns to help the TWiPlets solve the case of the Ghanian Woman with Abdominal Mass, followed by discussion of the impact of COVID-19 on malaria morbidity and mortality in Africa. Hosts: Vincent Racaniello, Dickson Despommier, and Daniel Griffin Guest: Christina Naula Download TWiP #190 (57 MB .mp3, 94 minutes) Subscribe (free): iTunes, Google Podcasts, RSS, email Links for this episode PWB on Facebook, Instagram, Twitter COVID-19 effects on malaria in Africa (Lancet) Hero: Clark Read Letters read on TWiP 190 Become a patron of TWiP Case Study for TWiP 190 Male, 50 yo, rural NC, suddenly notices blurred vision right eye. Went away 1 hr later, normal vision. Returned next night, same eye, then corrected. Went to local doctor, sent to larger med center, went to Presbyterian Hospital NYC. Had exposure to various animals, normal diet. Dickson and Dr. Brown went to see this gentleman. Examined by head of ophthalmology dept. Dickson looked through ophthalmoscope and saw cause of his blurred vision in anterior chamber of eye. Next morning when were going to remove it, had penetrated optic nerve and disappeared. Sent home and never heard from again. Made living by selling hunting dogs, ran a kennel.  Send your case diagnosis, questions and comments to twip@microbe.tv Music by Ronald Jenkees

This episode covers echinococcus granulosus!

Bugs are Coming! Safe Products for Breeding Dogs + CoronavirusDr. Marty Greer brings her pragmatic Veterinary Voice to the topic of Coronavirus and what products are safe to use for flea, tick and heartworm prevention in breeding dogs. COVID-19 is not currently believed to be communicable between humans and dogs. Coronavirus is a general term for a *shape* of a virus and encompasses a variety of viral infections in many species. For more information on recommendations regarding veterinary care during this outbreak, click https://www.foxrothschild.com/publications/coronavirus-response-plans-for-veterinary-practices/ (here). As spring brings the reemergence of various creepy, crawly parasites that affect our dogs, Greer provides in-depth information about which products are safe for use on dogs in our breeding programs, including brood bitches and stud dogs over the course of time, as well as bitches in whelp. Greer said, “I think it's really appropriate for us to stick to the EPA and FDA approved drugs that we know have been tested and safe in breeding animals. So, for instance, Bravecto says there were no clinically relevant treatment-related effects on body weights, food consumption, reproductive performance, semen analysis, litter data, gross necropsy or Histology findings in adults and puppies. So we need to be looking for that kind of language on a label before we go slapping things on or popping things into our dogs … I just want to be perfectly clear for what products have or have not been tested. "So there's three basic categories of flea and tick medications. There's the collar, there's the topical, the oil that goes over the back of the neck or down the back and there's the tablets or the chewables. So there are the three general categories and of those three there's no collar …. labeled for that use in breeding dogs … the topicals, some are definitely labeled and some are not definitely labeled. …if it says like Frontline says safe for breeding, pregnant and lactating dogs and cats, then it's safe. If it doesn't say that you shouldn't use it. It needs to be clear. And if we look at the oral there's …. three oral medications that are not labeled for use in breeding animals. Bravecto is labeled for use in breeding animals. So we need to be really, really clear that we're looking at the labels or reading the instructions and we're thinking at eight weeks of age, what is the this dog’s future, not just is she pregnant right now, but what is her future.” Product Active Ingredients Purpose/Effective Against Minimum Age/Weight Pregnant/Nursing/Male Heartworm         Advantage Multi for Dogs Imidacloprid and moxidectin Flea, louse, heartworm, hookworm, whipworm, roundworm and mange. Topical every 30 days 7 weeks/3lbs Safety not established. Advantage Multi for Cats Imidacloprid and moxidectin Ear mites, flea, heartworm, hookworm and roundworm. Topical every 30 days 9 weeks/2 lbs Safety not established. Heartgard Plus Ivermectin,Pyrantel pamoate Heartworm, roundworms & hookworms Tablet every 30 days 6 weeks Safe in pregnant or breeding bitches, stud dogs Heartgard Ivermectin Dog: Heartworm. Tablet every 30 daysCat: Heartworm and hookworm. Tablet every 30 days 6 weeks Safe Interceptor Milbemycin oxime Heartworm, hookworm, whipworm, roundworm. Every 30 days Dog: 4 weeks/2 lbsCat: 6 weeks/1.5lbs Dogs: SafeCat: Not established Interceptor Plus Milbemycin oxime and praziquantel tablet Heartworm, roundworm (Toxocara canis, Toxascaris leonina), adult hookworm (Ancylostoma caninum), adult whipworm (Trichuris vulpis), and adult tapeworm (Taenia pisiformis, Echinococcus multilocularis and Echinococcus granulosus) Tablet every 30 days Dogs and puppies 2 pounds of body weight or greater and 6 weeks of age and older. SafeNot evaluated in breeding, pregnant or lactating dogs. Only milbemycin has been studied and is safe. Iverhart Max Ivermectin,Pyrantel pamoate,... Support this podcast

On this weekends Outbreak News This Week Radio show, I spend the first half talking to World Health Organization (WHO) spokesperson for polio eradication, Oliver Rosenbauer. During the interview, Mr Rosenbauer discusses some history on polio, including the introduction of the vaccine, the different vaccines and the purposes and differences and the situation and difficulties as we get closer to eradication in Pakistan and Afghanistan. During the second half, I look at several quite unusual news stories and studies- from rhinosporidiosis to sweat bees in the eye to a little girl with a sand flea infestation acquired running through a pigsty with no shoes on. I also look at some parasite news from Canada, which includes a report of a toxoplasmosis outbreak linked to deer meat and Echinococcus in southern Ontario.

A relatively rare tapeworm has popped up in several patients in Alberta, Canada in the past few years, which may not sound like much; however, the only other human case in Canada was in 1928 in Manitoba. The parasite is called Echinococcus multilocularis and it appearance in Alberta has caught the attention of some infectious disease specialists. Professor of Medicine and infectious disease expert with the University of Alberta, Stan Houston, MD joined me to discuss this serious parasitic disease and the situation in Alberta.

We are joined by Dr. Andrew Peregrine, BVMS, PhD, DVM, Diplomate EVPC, Diplomate ACVM (Veterinary Parasitology), Clinical Parasitologist at the Ontario Veterinary College, and Jonathon Kotwa, master's candidate in the department of pathobiology at the OVC. Dr. Peregrine and Mr. Kotwa discuss alveolar echinococcosis and human alveolar echinococcosis. As well, they discuss life cycle of echinococcis multilocularis, how it is transmitted, and who can host the disease.

We are joined by Dr. Andrew Peregrine, BVMS, PhD, DVM, Diplomate EVPC, Diplomate ACVM (Veterinary Parasitology), Clinical Parasitologist at the Ontario Veterinary College, and Jonathon Kotwa, master's candidate in the department of pathobiology at the OVC. Dr. Peregrine and Mr. Kotwa discuss what echinococcus multiloclaris is, its history in Canada and Ontario, types of infections, and what veterinarians need to know.

Hosts: Vincent Racaniello, Dickson Despommier, and Daniel Griffin Guest: Michael Libman Michael returns to help the TWiP trio solve the case of the Delusional African Expatriate, and discuss the association of natural and induced antibodies in mice with differential susceptibility to secondary cystic echinococcosis. Links for this episode: T. brucei life cycle (pdf) Natural and induced antibodies in echinococcosis (Immunobiol) The collaborative cross Letters read on TWiP 104  Case study for TWiP 104 This week's case involves a young man in his thirties, admitted in hospital in Anchorage AK in early June. Chief complaint, severe muscle pain and tenderness. Usually healthy guy, 1 week ago had bad case of diarrhea with belly pain and vomiting, lasted a full week. Now has fever. Concerned because wife now is having diarrhea. Unremarkable history, unknown family history. HIV negative. All childhood vaccinations. Does not eat raw meat. No meds, does seasonal work, social drinker. Came back from successful hunt, got a black bear. Dressed in field, cooked at home really well. Wife also ate bear meat. Bear meat is in freezer. No vegetables. Also eats salmon which he caught the previous season, then frozen. Drinks water from the stream when he hunts. Physical exam: hot, 38.5, bp 115/75, pulse 105, breathing comfortably. Anxious, swelling around both eyes. Sclera not noted. Labs: WBC elevated 14,000, 30% eosinophils; chemistries fine; muscle enzymes LDH, CK elevated. Send your diagnosis to twip@microbe.tv Send your questions and comments to twip@microbe.tv

Hosts: Vincent Racaniello, Dickson Despommier, and Daniel Griffin Guest: Michael Libman The TWiP-scholars solve the case of the Housewife from Kolkata, discuss mutations in the IL17 gene associated with cerebral malaria, and hear a case presentation from guest Michael Libman.   Links for this episode: IL-17 mutations and risk of cerebral malaria (Inf and Imm) Echinococcosis (CDC) Echinococcus life cycle (pdf) Letters read on TWiP 103  Case study for TWiP 103 This week's case concerns a 42 yo male, refugee in Canada, from DRC, former Zaire, where there is unending civil war. Upper middle class, professor of French at university. Had been imprisoned, tortured, lived in jungle for a few years, reached refugee camp in Tanzania, moved to Canada. Came to health care system 15 months after arrived. Was sent to psych, unstable emotionally, delusions, hallucinations, depression, post traumatic issues. Was under psych care for ~1 yr, did not improve, became worse. Sent to hospital. History: talked about having minor injury, hurt lower back, pain there bothering him. Some anemia (normochromic), basic hem/chem/urine/liver nothing remarkable. Physical exam, nothing remarkable. HIV negative. Some evidence for chronic inflammatory condition: sed rate 60 (elevated), had diffuse increase in IgG, IgM. Developed some low level autoantibodies; anti-nuclear, p-anka, anti-neutrophil cytoplasmic antibodies. Slightly elevated fever for a few days, then few days or week with no fever. No eosinophilia. Radiology: on CT did have some mediastinal, aortic, axillae, lymphadenopathy. Prob screened in Africa for malaria and treated; prob also got ivermectin. Also got head MRI: not completely normal, classic nonspecific midbrain abnormality. Diffuse mild edema. Weight loss remarkable. No visual problems. Send your diagnosis to twip@microbe.tv Send your questions and comments to twip@microbe.tv

-NATALE, IN AGGUATO 2-3 KG SULLA BILANCIA Due o tre chili di troppo, indigestioni, pressione alta, ma anche portafoglio svuotato dallo shopping compulsivo e depressione. A mettere in guardia contro le insidie per la salute legate al Natale e' il team di Medicina del lavoro della Sapienza di Roma, che pubblica su 'Prevention and Research' un lavoro su questo tema, con i consigli per celebrare le festivita' senza mettere in pericolo la salute. "Il Natale si accompagna a una serie di rischi, che comprendono aspetti sia fisiologici che psicologici", scrivono i medici. Quasi centomila italiani a letto in una settimana. I virus influenzali 'affilano le armi' in vista del Natale, la festa preferita dai microbi invernali che proprio sotto l'albero trovano l'occasione ideale per diffondersi, veicolati da baci e abbracci di auguri. Secondo gli ultimi dati dei medici sentinella della rete Influnet, relativi al periodo dal 10 al 16 dicembre, le sindromi influenzali hanno colpito 99.500 persone (erano state 77.600 la settimana precedente), per un totale di quasi mezzo milione (468 mila) dall'inizio della sorveglianza epidemiologica. -STAMINALI RIPROGRAMMATE IN LABORATORIO 'CORREGGONO' AMIOTROFIA SPINALE Da tempo gli scienziati fanno esperimenti con le cellule staminali per tentare di correggere questi difetti genetici, e sconfiggere quindi la malattia. Un passo significativo nella direzione di una cura e' stato compiuto nei laboratori del Centro Dino Ferrari, che unisce i ricercatori dell'Universita' degli Studi di Milano e della Fondazione Ca' Granda Policlinico di Milano. -CATTIVE ABITUDINI LASCIANO SEGNO SU ELETTROCARDIOGRAMMA L'onda 'T' del nostro elettrocardiogramma, una delle caratteristiche misurate nell'esame, puo' essere una spia di una sindrome metabolica, condizione che predispone a diverse patologie. E' il risultato di uno studio condotto dai Laboratori di ricerca della Fondazione Giovanni Paolo II di Campobasso, pubblicato su Atherosclerosis e realizzato su 20.885 abitanti del Molise, tutti partecipanti al Progetto epidemiologico Moli-sani. I risultati potrebbero essere un punto di partenza per individuare con maggiore precisione le persone piu' a rischio di problemi cardiovascolari. -IN SVIZZERA PRIMO TRAPIANTO AL MONDO DI FEGATO CON RICOSTRUZIONE DEL CUORE Intervento senza precedenti all'ospedale universitario di Zurigo. Un tumore di 10 centimetri di diametro, provocato da un verme parassita, ha attaccato il fegato, la vena cava e parte del diaframma dell'atrio destro del cuore di una ragazza di 22 anni. I medici hanno realizzato in prima mondiale un trapianto di fegato combinato con la resezione e la ricostruzione di una parte del tessuto cardiaco. Un'infezione da Echinococcus multilocularis ha causato il tumore diagnosticato lo scorso aprile alla giovane donna.

Das Hyper-IgE-Syndrom (HIES) ist ein seltener primärer Immundefekt, charakterisiert durch die klinische Trias: chronisches Ekzem mit einem Gesamt-IgE über 2000 IU/ml im Serum, rezidivierende Infektionen (insbesondere Abszesse, Infektionen des Respirationstraktes wie Pneumonien mit Pneumatozelenbildung und Candidainfektionen) und skelettbezogene Symptome (vergröberte Gesichtszüge, Milchzahnpersistenz, Skoliose, Spontanfrakturen und Überstreckbarkeit der Gelenke). Durch das Auftreten von skelettbezogenen Symptomen neben der klassischen immunologischen Trias (rezidivierende Abszesse, rezidivierende Pneumonien und erhöhtes Gesamt-IgE) wird das HIES nach Grimbacher et al. heute als Multisystemerkrankung bezeichnet (Grimbacher et al. 1999a). Zum gegenwärtigen Zeitpunkt sind Ätiologie und Pathogenese noch unbekannt, so dass Definition und Diagnosestellung nur anhand klinischer Parameter zu stellen sind. Ziel einer Kooperation mit einer Arbeitsgruppe der National Institutes of Health (NIH) in Bethesda, USA, war es einen molekulargenetischer Nachweis eines Gendefektes zu finden. In dieser Arbeit wurden 68 Patienten mit Anfangsverdacht auf ein HIES analysiert. Bei 13 Patienten konnte ein HIES diagnostiziert werden. Bei 12 dieser Patienten fand sich ausnahmslos ein chronisches Ekzem (bei 75% bereits vor der vierten Lebenswoche manifest), Staphylokokken-Abszesse der Haut (bei 83% auch Organabszesse), rezidivierende Infektionen des HNO-Bereiches, eine Candidose der Mundschleimhaut sowie der Finger- und Fußnägel, ein Gesamt-IgE über 2000 IU/ml und einer Vergröberung der Gesichtszüge (HIES-typische Fazies). Bei 11 von 12 Patienten traten rezidivierende Pneumonien auf, die in 25% mit einer Pneumatozelenbildung einhergingen. Bei der Hälfte der HIES-Patienten fand sich eine IgD-Erhöhung über 100 IU/ml. 50% der Patienten hatten Spontanfrakturen, 67% eine Überstreckbarkeit der Gelenke und 60% der über sechzehnjährigen eine Skoliose. Eine Milchzahnpersistenz, ein erstmals von Grimbacher et al. beschriebener Befund, konnte mit einem Auftreten bei 73% unserer über sechsjährigen Patienten bestätigt werden (Grimbacher et al. 1999a). Der Vergleich von anthropometrischen Daten des Gesichtes mit Standardwerten der Literatur (Farkas LG 1994) ergab signifikant erhöhte Mittelwerte für die Nasenflügelbreite (z-Score=4), den äußeren (z-Score=6) und inneren Augenabstand (z- Score=2) und Normwerte für den Kopfumfang. Ein Patient hatte eine Craniosynostose. Zusätzlich traten bei jeweils einem weiteren Patienten eine zweifache Non-Hodgkin- Lymphom-Erkrankung (T- und B-Zelltyp), ein juveniler arterieller Hypertonus, eine beidseitig operationsbedürftige Katarakt, eine Echinococcus alveolaris-Infektion der Leber und eine Hämophilie A auf. Familiarität könnte bei diesen 12 Patienten nicht beobachtet werden. Eine vergleichbare infektions-immunologische Symptomatik (Ekzem, rezidivierende Infektionen der Haut und des Respirationstraktes und erhöhtes IgE) wie Patienten mit klassischem HIES zeigten 5 Patienten aus 5 konsanguinen Familien türkischer Abstammung. Abgesehen von einer milden Überstreckbarkeit der Gelenke bei einer Patientin konnten keine weiteren zahn- und skelettbezogenen Symptome festgestellt werden. Zusätzlich fanden sich bei diesen Patienten eine extreme Eosinophilie (bis 16000 Eosinophile per µl; vgl. Abb. 14), ungewöhnlich starker Molluscum contagiosum Befall und cerebrale Gefäß- und Blutungsprobleme, die zu einer hohen Letalität führten. Retrospektiv konnte in 4 der Familien ein weiteres bereits verstorbenes Geschwisterkind mit HIES diagnostiziert werden. Aufgrund von Konsanguinität und familiärem Auftreten der Symptome in einer Generation wird bei diesen Familien ein autosomalrezessiver Erbgang vermutet. Dieses Krankheitsbild ist bisher nicht in der Literatur erwähnt und soll als autosomal rezessive Variante der HIES beschrieben werden. Mit diesen Familien wird aktuell eine Genom-weite Kopplungsanalyse durchgeführt. Sieben weitere Patienten zeigten durch eine geringere Ausprägung der Symptome eine milde Unterform des klassischen HIES. Differentialdiagnostisch ist eine andere Grunderkrankung wie z.B. eine schwere atopische Dermatitis nicht völlig auszuschließen. Aufgrund der klinischen Einschätzung wurden die 68 Patienten mit Anfangsverdacht auf ein HIES in vier Diagnosegruppen eingeteilt: „klinisch-gesichert HIES“, „HIESVariante“, „Verdacht auf HIES“, „kein HIES“. Wesentliche differentialdiagnostische Kriterien waren hierbei: Ekzemmanifestation vor der 6. Lebenswoche, infiltrierende Abszesse (Organabszesse), Nagelcandidose, Spontanfrakturen, Überstreckbarkeit der Gelenke und, als besonders spezifisches Merkmal, die Milchzahnpersistenz. Ein wichtiges weiteres Charakteristikum ist die HIES-typische Fazies, die nur bei den von uns persönlich gesehenen Patienten ausgewertet werden konnte. Der Vergleich der Mittelwerte für das Gesamt-IgE (95%-Konfidenzintervall) ergab keinen signifikanten Unterschied der verschiedenen Diagnosegruppen untereinander, so dass die Höhe des Gesamt-IgE zwar für HIES meist über 2000 IU/ml liegt, aber nicht als spezifisch für diese Erkrankung anzusehen ist. Diese klinischen Diagnosegruppen wurden mit dem Ergebnis eines Algorithmus, der zur Veranschaulichung des Entscheidungsprozesses bezüglich des HIES entwickelt wurde und in sechs Stufen Symptome bzw. Symptomenkomplexe des HIES auf ihr Vorhandensein getestet, verglichen. Ein vom NIH entwickeltes Scoresystem wurde auf seine Aussagefähigkeit zur Diagnosestellung überprüft (vgl. Tab. 3). Es ergab sich daraus, dass bei einem Scorewert von über 40 Punkten mit großer Wahrscheinlichkeit ein HIES vorliegt und bei einem Wert unter 20 Punkten die Diagnose verworfen werden konnte. Das NIH-Scoresystem und der Algorithmus ließen somit eine Aufspaltung zwischen den Patienten mit klinisch-gesichertem HIES und keinem HIES zu. Aus unserer klinischen Studie konnten somit konkrete Entscheidungshilfen zur Diagnosestellung gegeben werden, die es ermöglichen, das HIES früher zu erkennen, um so Lebensqualität und Prognose dieser chronischen Krankheit durch frühzeitige intensive antimykotische-antibiotische Therapie und Abszessspaltung weiter zu verbessern und assoziierte Merkmale (Milchzahnpersistenz, pathologische Frakturen, Skoliose und Lymphome) in die Therapie bzw. Prophylaxe einzubeziehen. Es wird vermutet, dass das klassische HIES einem monogenen, autosomal-dominanten Erbgang mit variabler Expressivität folgt. Mittels Linkage-Studie konnte ein signifikanter LOD score in der Region 4q21 bestimmt werden (Grimbacher et al. 1999b). Die Suche nach dem Gendefekt für das HIES ist bisher noch nicht abgeschlossen. Kopplungsanalysen von familiärem HIES am NIH und unsere klinische Studie legen nahe, dass es nicht nur unterschiedliche Phänotypen des HIES gibt, sondern auch unterschiedliche Gendefekte anzunehmen sind (Grimbacher 1999b). Sollte für das HIES ein Gendefekt nachgewiesen werden, so bestünde die Hoffnung, über die daraus resultierende biologische Störung (z.B. Proteindefekt) entscheidende Erkenntnisse zur Ätiologie und Pathogenese des HIES zu erlangen. Davon hängt schließlich die Möglichkeit einer kausalen Therapie, eventuell einer somatischen Gentherapie, ab, aber ebenso die genetische Beratung betroffener Familien und vielleicht auch Erkenntnisse für Erkrankungen des atopischen Formenkreises.