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Conservative Surgical Management of Necrotic Tissues Following Meningococcal Sepsis: Case Report of a Child Treated with Hyperbaric Oxygen
No full textThis article presents the case of a 5-month-old infant, who survived a fulminant meningococcal sepsis with purpura fulminans, septic shock and severe DIC with gastrointestinal bleeding. Amputation and reconstructive surgery were considered to treat the multiple skin and limb necroses at high risk of superinfection, but the surgical intervention was delayed due to the extremely doubtful outcome. On Day 10 after the onset of the disease, a hemodynamic improvement was achieved. The baby overcame early critical period, but was still in poor general condition. The hyperbaric oxygenation (HBO2) as adjuvant therapy was started in the monoplace chamber using the following protocol: from first through fifth day 45 minutes twice a day on 1.5 atmosphere absolute (ATA); after a two-day break, once a day on 1.8 ATA for 60 minutes. During 52 HBO2 treatments multiple areas of necrotic skin and subcutaneous tissue, together with fingertips and toes, detached spontaneously. All wounds healed without reinfections. An increased oxygen concentration during HBO2 therapy promoted spontaneous wound healing. Bacterial superinfection was not observed in numerous low-perfused lesions. Since repeated anesthesia and surgical interventions were not needed, a final invalidity was minimized. To the best of our knowledge, this is the first report on the successful conservative surgical treatment of this mutilating disease without aggressive reconstructive surgery in an infant with the help of HBO2
Organizacija probira mamografskim pregledima u obiteljskoj medicini. Što smo naučili?
No full textThe mammography, recommended as standard method for screening on breast cancer, can reveal suspicious lesions early enough to anable cancer elimination in entirely. Experience with women of the target population, 50–69 years old, included in the mass screening programs, show the reduction in the specific mortality by 30%. One of the main problem in organizing the preventive programs is how to increase responsiveness of subjects to screening. In the study, based on the large sample of over 1000 of subjects and 20 family medicine practices, included in the investigation, we showed that it is possible, by a pro-active involvement of family physicians teams and intensive educational and motivational activities, to achieve high level of over 80% of responsiveness to mammography screening. Analysis of the reasons of nonresponsiveness can contribute to better understanding of the mental processes included in a self-decision making. This, as the final aim, can help family physicians in their efforts to overcome many hidden barriers which obstruct their patients to accept the mammography screening.Mamografija, preporučena kao standardna metoda za skrining na rak dojke, može otkriti suspektne promjene u dovoljno ranom stupnju da one mogu biti eliminirane u cijelosti. Iskustva sa ženama iz ciljne populacije, starim 50–69 godina, koje su bile uključene u masovne skrining programe, pokazuju smanjenje specifičnog mortaliteta za 30%. Jedan od glavnih problema pri organiziranju preventivnih programa je kako povezati odaziv osoba na skrining. U ovoj studiji, temeljenoj na velikom uzorku od preko 1000 osoba i 20 praksi obiteljske medicine, uključenih u istraživanje, pokazali smo da je moguće, pro-aktivnim uključivanjem timova obiteljske medicine i intenzivnim edukacijskim i motivacijskim aktivnostima, postići visok odaziv, od preko 80%, na mamografski skrining. Analiza razloga ne-odaziva na skrining može pomoći boljem razumijevanju mentalnih procesa uključenih u postupak samo-donošenja odluke. Kao konačni cilj, to može pomoći liječnicima obiteljske medicine u njihovim naporima da prevladaju mnoge nevidljive prepreke koje sprečavaju njihove pacijente da prihvate mamografski pregled
Distinct Effects of Allelic NFIX Mutations on Nonsense-mediated mRNA Decay Engender Either a Sotos-like or a Marshall-Smith Syndrome
No full textBy using a combination of array comparative genomic hybridization and a candidate gene approach, we identified nuclear factor I/X (NFIX) deletions or nonsense mutation in three sporadic cases of a Sotos-like overgrowth syndrome with advanced bone age, macrocephaly, developmental delay, scoliosis, and unusual facies. Unlike the aforementioned human syndrome, Nfix-deficient mice are unable to gain weight and die in the first 3 postnatal weeks, while they also present with a spinal deformation and decreased bone mineralization. These features prompted us to consider NFIX as a candidate gene for Marshall-Smith syndrome (MSS), a severe malformation syndrome characterized by failure to thrive, respiratory insufficiency, accelerated osseous maturation, kyphoscoliosis, osteopenia, and unusual facies. Distinct frameshift and splice NFIX mutations that escaped nonsense-mediated mRNA decay (NMD) were identified in nine MSS subjects. NFIX belongs to the Nuclear factor one (NFI) family of transcription factors, but its specific function is presently unknown. We demonstrate that NFIX is normally expressed prenatally during human brain development and skeletogenesis. These findings demonstrate that allelic NFIX mutations trigger distinct phenotypes, depending specifically on their impact on NMD
More Hemodynamic Changes in Hypertensive Versus Non-hypertensive Patients Undergoing Breast Cancer Surgery in General Anesthesia - a Prospective Clinical Study
No full textAim Preoperative comorbidity may significantly influence the conduction of anesthesia and patients’ outcome. The aim of this study was to compare a number of anesthetic interventions and the use of non-anesthetic drugs in hypertensive and non-hypertensive patients during general anesthesia for moderately invasive surgery.
Methods A total number of 88 elective hypertensive (n = 44) and non-hypertensive (n = 44) breast cancer patients were enrolled in the prospective study. Midazolam and infusion of normal saline were given before anesthesia. Etomidate, rocuronium, fentanyl, and sevoflurane up to the 1 MAC were used for the maintenance of anesthesia. Mean arterial pressure (MAP), pulse, core temperature and intraoperative use of all drugs were recorded. MAP was maintained by sevoflurane and infusion replacement. Urapidil and ethylephrine were given if MAP differed > or <30% of baseline, and atropine if heart rate <50 beats min-1. A statistical analysis was made using chi-square and Mann-Whitney tests.
Results The highest MAP was 133±19.3 in hypertensive and 122±16.5 mmHg in the non-hypertensive patients (p 0.05). Intraoperative bradycardia (11/44 vs.7/44) and atropine applications (16 vs. 9, ns, p> 0.05) were similar in two groups.
Conclusion Hypertensive patients required more anesthetic interventions and had higher consumption of vasoactive drugs during anesthesia for breast cancer surgery, suggesting their hemodynamic instability possibly related to the hypertensio
Homozygous form of Hereditary Hemochromatosis in a Patient with Beta-tha Lassemia Minor: Case Report
No full textUvod: Dijagnostički pristup bolesniku koji istodobno boluje od nasljedne hemokromatoze i beta-talasemije može biti dosta složen zbog činjenice da teži oblici beta-talasemije sami po sebi mogu imati za posljedicu hemokromatozu. S druge strane, i najlakši oblik beta-talasemije može dovesti do ozbiljnih manifestacija hemokromatoze u bolesnika s heterozigotnim oblikom HFE polimorfizama. Ova stanja, kao i HFE polimorfizmi naslijeđeni u homozigotnom obliku kao rizični čimbenici za razvoj hemokromatoze mogu imati za posljedicu cirozu jetre i hepatocelularni karcinom pa pravodobno prepoznavanje navedenih stanja ima presudno značenje za dužinu i kvalitetu bolesnikova života.
Metode: Za prikaz slučaja izabran je bolesnik primljen na Kliniku za zarazne bolesti Kliničke bolnice Osijek s febrilitetom, hepatosplenomegalijom i neurološkim simptomima. Kod prijma su učinjene osnovne laboratorijske pretrage te ultrazvučni pregled abdomena i snimanje glave magnetskom rezonancijom. Naknadno je provedena biopsija jetre, elektroforeza hemoglobina te određivanje koncentracije haptoglobina i utvrđivanje Cys282Tyr polimorfizma HFE gena.
Rezultati: Anamnestički podaci i rezultati rutinske laboratorijske obrade su ukazali na mogućnost da bolesnik boluje od beta-talasemije. Proširenom laboratorijskom obradom je dijagnosticirana pigmentna ciroza-hemokromatoza, a potvrđena je dijagnoza beta-talasemije minor. Odgovarajući moleularno-dijagnostički postupak je dokazao prisutnost homozigotnog oblika nasljedne hemokromatoze.
Zaključak: Određivanje koncentracije feritina i zasićenje transferina željezom, elektroforeza hemoglobina i utvrđivanje polimorfizma Cys282Tyr HFE gena pokazali su se ključnim čimbenicima za relativno brzo postavljanje ispravne dijagnoze u prikazanom slučaju istodobnog nasljeđivanja beta-talasemije minor i homozigotnog oblika nasljedne hemokromatoze. Homozigotni oblik nasljedne hemokromatoze uz beta-talasemiju minor objašnjava težinu simptoma prisutnih kod bolesnika u vrijeme hospitalizacije.Background: Diagnostic approach to the simultaneous inheritance of beta-thalassemia and hereditary hemochromatosis might be quite complex due to the fact that severe beta-thalassemia itself may lead to hemochromatosis. On the other hand, beta-thalassemia minor accompanied by some heterozygous form of HFE polymorphism may also lead to the disease manifestation. These conditions as well as the homozygous forms of HFE polymorphisms are hemochromatosis risk factors that may lead to liver cirrhosis and hepatocellular carcinoma. Therefore, early diagnosis is crucial for patient quality of life and life expectancy.
Methods: A febrile patient admitted to Department of Infectious Diseases, Osijek University Hospital, with hepatosplenomegaly and some neurological symptoms has been chosen for this case report. Basic laboratory tests as well as ultrasound examination of the abdomen and magnetic resonance imaging of the head were performed shortly upon admission. Liver biopsy, hemoglobin electrophoresis, haptoglobin concentration and Cys282Tyr polymorphism determination were subsequently obtained.
Results: History data and laboratory findings suggested the diagnosis of beta-thalassemia. Extended laboratory work-up pointed to the diagnosis of pigment cirrhosis-hemochromatosis, and verified the diagnosis of beta-thalassemia minor. Appropriate molecular diagnostic procedure indicated the homozygous form of hereditary hemochromatosis.
Conclusions: In this case of homozygous hereditary hemochromatosis and beta-thalassemia minor coinheritance, serum ferritin concentration, tran-sferrin saturation, hemoglobin electrophoresis and HFE gene Cys282Tyr polymorphism analysis proved to be crucial for the relatively fast establishment of accurate diagnosis. Recognition of the homozygous form of hemochromatosis in association with beta-thalassemia minor explained the complexity and severity of the disease presentation
Sodium channels and nociception – the effects of local anesthetics
No full textBackground and Purpose: Pain is an unpleasant warning sensation of imminent damage of the tissue or organ, and is a very frequent reason for patients to seek the physician's help. The aim of this paper is to give an overview on the role of voltage gated sodium channels in nociception and to highlight the mechanisms of the action of local anesthetics in inhibiting conduction of ion currents, thus affecting the sense of pain.
Materials and Methods: A comprehensive search of the literature with key words: voltage gated sodium channels (VGSC), nociception, local anesthetics, α, β- subunit isoforms in Medline was conducted.
Results: VGSC isoforms Nav1.7, Nav1.8, Nav1.9 are highly expressed in nociceptive neurons and associated with neuropathic pain syndrome. Human studies demonstrated that point mutations of these isoforms, particularly Nav1.7 underlie insensitivity or hypersensitivity to pain. The sodium channel blockers are anesthetics of choice for local analgesia and anesthesia. However, currently available drugs are not considered selective enough and
have relatively narrow therapeutic windows, which can limit their usefulness. Isoform – selective pharmacological blockers or gene therapy approaches targeted at down-regulating specific isoforms could show increased therapeutic efficacy for treating pain.
Conclusions: Due to restrictive appearance of isoforms Nav1.7 and Nav1.8 in nociceptive neurons, drugs targeting these isoforms would be of great interest, especially in treatment of neuropathic pain syndrome
A Wound Infiltration as a Method of Postoperative Analgesia
No full textA wound infiltration is a method of postoperative analgesia efficient in the various surgical subdisciplines. This technique resulted from the observation that patients whose surgical procedures were performed under regional anaesthesia techniques have reduced postoperative analgesic consumption. Owing to the advances in the drug discovery and to the introduction of local anaesthetics with prolonged effects, this technique has less adverse reactions and considerable analgesic effects. New local anaesthetics with long duration of action and low toxicity like levobupivacaine and ropivacaine are currently available at the market. Such drugs with lower potential for systemic toxicity provided additional safety dimension to local infiltration techniques. A variety of methods were developed to achieve painless recovery period, better patient comfort and to improve patient outcome. Probably the most common technique is a field block at the end of the surgery that can be performed both during regional anaesthesia techniques and in the general anaesthesia. The use of wound infiltration techniques was facilitated by important technical improvements in the multilumen catheters and by construction of special drug delivery devices. Numerous disposable elastomeric devices and patient controlled pumps are suitable for prolonged periods of analgesia in the clinical and outpatient setting. Although it can be used alone for less painful procedures, infiltration analgesia is now important part of multimodal pain treatment. This complex approach to the postoperative pain treatment is characterized by the use of different analgesic drugs and techniques, like wound infiltration and intravenous opioid or nonsteroidal anti-inflammatory drugs. Multimodal postoperative pain treatment is acceptable after painful procedures i.e. hip and knee replacement, where it improves pain control and patient outcome
A Comparison of the Interlaminar v. the Transforaminal Approach to Steroid Injections under Fluoroscopic Control in Treating Lumbar Radicular Pain
No full textBackground and Purpose: Lateral lumbar spinal compression is a common source of lower back and leg pain. Steroids injected around the dura-sac markedly decrease inflammation commonly associated with conditions such as, disc-herniation or s. This study’s goal was to prove how epidural injections of steroids, transforaminal or interlaminar, lead to improved pain reduction.
Materials and Methods: 50 patients were included in the study by random choice. They were stratified with magnetic resonance imaging and mlectromyography, according to their confirmed diagnosis of lumbar lateral spinal compression. The selected patients were divided into two groups according to reception-path of epidural steroids. In both groups 25 patients were selected by random choice to receive interlaminar or transforaminal epidural steroid injections, in both cases under fluoroscopic guidance. The patients were monitored and their pain assessed by using the visual analogue
scale (0–10) during each visit, and during the visits three and six
months following the first injection (using VAS scores).
Results and conclusions: After the first and second injection of steroids an efficient decrease of pain was evident, although a tendency towards further decrease was not continued after the third injection of steroids and local anaesthesia. The tendency towards decreasing and maintaining the level of pain was recorded as the same both with the interlaminar and the transforaminal approach to steroid injections. The difference in assessed pain between the group with the transforaminal approach and the group with the interlaminar approach did not appear significant in our study. The results of our research have demonstrated that there is no difference in the efficacy of the epidural steroid injection regarding its approach; that is the efficacy is at the same level both with the interlaminar approach as with the transforaminal approach
Hyperuricaemia and hypouricaemia - clinical importance; Diagnostic and therapy procedures
No full textUrat (mokraćna kiselina) konačni je produkt razgradnje purinskih baza, a njegovu koncentraciju možemo mjeriti u serumu i urinu. Koncentracija urata ne daje nam uvid samo u metabolizam purina nego i šire, no isto tako koncentracija urata nerijetko se netočno tumači, te je uz taj podatak vezano i dosta kontroverzi i ponekad zbunjujućih činjenica. Cilj ovog rada je pokušati dati pregled mogućih patoloških stanja, nasljednih metaboličkih bolesti te utjecaja prehrane koja se odnose na promjenu vrijednosti urata u serumu i urinu, kao i analitičkih laboratorijskih utjecaja. Nasljedni metabolički poremećaj razgradnje purina može biti težak klinički problem jer se prezentira vrlo raznovrsnom kliničkom slikom kao što su novorođenačke konvulzije, nenapredovanja na tjelesnoj težini, ponavljane infekcije, neurološki deficit, bubrežnabolestkaoiostalemanifestacije.
Patofiziologijametabolizmapurina i urata ključna je za razumijevanje navedenih promjena.Uric acid is the finalproductofpurinemetabolism,anditsconcentrationwecanmeasureintheserumandurine.Uricacidlevel may give us insight not only in purine metabolism, but also in other related pathologies and clinical conditions. Information about uric acid level often being controversial and confusing is often misinterpreted, therefore the aim of this review is to try to elaborate clinical conditions, possible diseases, diet and drug intake that can influencethechangeofuricacidlevelinurineandserum, as well as analytical lab influences.Purineinbornerrorsofmetabolismareserioushereditarydisorders,whichshouldbesuspected in any case of neonatal fitting,failuretothrive,recurrentinfections,neurologocaldeficit,renaldiseaseandothermanifestations. Patophysiology of purine metabolism is important for understanding these conditions
Naša iskustva sa virtualnom endoskopijom paranazalnih šupljina
No full textThe main goal of our work was to evaluate advantages and disadvantages of virtual endoscopy (VE) techniques in routinely diagnostic and preoperative management of patients with various sinus diseases or head traumas in our practice. Fly-through algorithm was performed using an Xeon based workstation on data sets created from axial CT images acquired from 320 patients with various paranasal sinus disorders. Images were created using Siemens Somatom Emotion 16 continiously rotating helical CT scanner and archived in DICOM format. In comparison with real endoscopy, the VE has several advantages. It is completely non-invasive. It is possible to repeat the same procedure several times, therefore it may be a valuable tool for training. Interactive control of all virtual camera parameters, including the field-of-view is possible. Endoscopic viewing as opposed to real endoscopy is not restricted to the spaces defined by inner surfaces. The viewer may penetrate the walls and see the extent of lesions within and beyond the wall as well as the adjacent anatomic structures. Virtual endoscopy also has a potential to stage tumors by determining the location and the extent of transmural extension.Glavni cilj ovog rada je ocijeniti prednosti i nedostatke virtualne endoskopije (VE) u rutinskoj dijagnostici i preoperativnoj pripremi bolesnika oboljelih od različitih bolesti sinusa i sa ozljedama glave. Algoritam pregleda je načinjen korištenjem radne stanice bazirane na Xeonu i temeljen je na aksijalnim CT snimkama prikupljenih od bolesnika. Snimke su učinjene pomoću Siemens Somatom Emotion 16 spiralnog CT ure|aja uz pohranu u DICOM formatu. U usporedbi sa stvarnom endoskopijom, VE ima nekoliko prednosti. U potpunosti je neinvazivna. Mogu}e je ponoviti isti postupak više puta te je zbog toga vrijedna za edukaciju. Moguća je interaktivna kontrola svih virtualnih parametara kamere, uključujući vidno polje. Korisna je za stupnjevanje (staging) tumora određivanjem lokalizacije i dubine transmuralnog širenja