Home About us Contact
|
Home About us Contact | ||
|
|
||
Diagnosis Difficult (diagnosis + difficult)
Selected AbstractsZebrafish as a model for long QT syndrome: the evidence and the means of manipulating zebrafish gene expressionACTA PHYSIOLOGICA, Issue 3 2010I. U. S. Leong Abstract Congenital long QT syndrome (LQT) is a group of cardiac disorders associated with the dysfunction of cardiac ion channels. It is characterized by prolongation of the QT-interval, episodes of syncope and even sudden death. Individuals may remain asymptomatic for most of their lives while others present with severe symptoms. This heterogeneity in phenotype makes diagnosis difficult with a greater emphasis on more targeted therapy. As a means of understanding the molecular mechanisms underlying LQT syndrome, evaluating the effect of modifier genes on disease severity as well as to test new therapies, the development of model systems remains an important research tool. Mice have predominantly been the animal model of choice for cardiac arrhythmia research, but there have been varying degrees of success in recapitulating the human symptoms; the mouse cardiac action potential (AP) and surface electrocardiograms exhibit major differences from those of the human heart. Against this background, the zebrafish is an emerging vertebrate disease modelling species that offers advantages in analysing LQT syndrome, not least because its cardiac AP much more closely resembles that of the human. This article highlights the use and potential of this species in LQT syndrome modelling, and as a platform for the in vivo assessment of putative disease-causing mutations in LQT genes, and of therapeutic interventions. [source] Histological alterations following thyroid fine needle biopsy: A systematic reviewDIAGNOSTIC CYTOPATHOLOGY, Issue 6 2009M.Sc., Stergios A. Polyzos M.D. Abstract Thyroid fine-needle biopsy (FNB) is a simple, reliable, inexpensive, and generally safe diagnostic procedure in the management of thyroid nodules. However, the trauma inflicted by the needle may lead to various degrees of histological alterations, observed in histological specimens, if thyroidectomy follows. Post-FNB histological alterations of the thyroid (PFHAT) can generally be divided into acute and chronic. Hemorrhage is the most common acute and fibrosis the most common chronic PFHAT. Some of the PFHAT causes problems in histological assessment, making diagnosis difficult, even leading to misdiagnosis. In this review, we tried to collect and summarize all reported PFHAT cases and studies, aiming to make involved physicians, cytologists, and pathologists aware of the spectrum of PFHAT and to provide information to help in differential diagnosis and to avoid misdiagnoses, which could lead to unnecessary radical surgery and/or adjuvant therapy. Diagn. Cytopathol. 2009. © 2009 Wiley-Liss, Inc. [source] Lead toxicosis in the horse: A reviewEQUINE VETERINARY EDUCATION, Issue 10 2010B. Puschner Summary Lead intoxication is rarely diagnosed in horses and can present a major challenge to the equine practitioner because of the variety of clinical signs. Horses with lead poisoning can develop gastrointestinal disturbances, neurological abnormalities, haematological changes, or nonspecific signs of weight loss, weakness and rough hair coat, which makes early diagnosis difficult. Fortunately, lead analysis of whole blood is routinely available and can confirm intoxication. Because of the well-described lead-induced peripheral neuropathies in horses, a thorough neurological examination is essential in the investigation of a suspect case. Once diagnosed, the source of lead has to be identified and further exposure prevented. Intoxication can be treated by administering chelating drugs and providing symptomatic and supportive care. [source] Molecular pathology of NEU1 gene in sialidosis,HUMAN MUTATION, Issue 5 2003Volkan Seyrantepe Abstract Lysosomal sialidase (EC 3.2.1.18) has a dual physiological function; it participates in intralysosomal catabolism of sialylated glycoconjugates and is involved in cellular immune response. Mutations in the sialidase gene NEU1, located on chromosome 6p21.3, result in autosomal recessive disorder, sialidosis, which is characterized by the progressive lysosomal storage of sialylated glycopeptides and oligosaccharides. Sialidosis type I is a milder, late-onset, normosomatic form of the disorder. Type I patients develop visual defects, myoclonus syndrome, cherry-red macular spots, ataxia, hyperreflexia, and seizures. The severe early-onset form, sialidosis type II, is also associated with dysostosis multiplex, Hurler-like phenotype, mental retardation, and hepatosplenomegaly. We summarize information on the 34 unique mutations determined so far in the sialidase gene, including four novel missense and one novel nonsense mutations found in two Czech and two French sialidosis patients. The analysis of sialidase mutations in sialidosis revealed considerable molecular heterogeneity, reflecting the diversity of clinical phenotypes that make molecular diagnosis difficult. The majority of sialidosis patients have had missense mutations, many of which have been expressed; their effects on activity, stability, intracellular localization, and supramolecular organization of sialidase were studied. A structural model of sialidase allowed us to localize mutations in the sialidase molecule and to predict their impact on the tertiary structure and biochemical properties of the enzyme. Hum Mutat 22:343,352, 2003. © 2003 Wiley-Liss, Inc. [source] Atypical pityriasis rosea or psoriasis guttata?INTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 11 2002Early examination is the key to a correct diagnosis Pityriasis rosea is a self-limited, mild, inflammatory skin disease characterized by scaly lesions, possibly due to an unidentified infectious agent. It may occur at any age, but is seen most frequently in young adults. This paper reports a patient who presented with a skin condition which was initially diagnosed as pityriasis rosea; however, due to the persistence and change in appearance of the lesions, the diagnosis was later altered to psoriasis guttata. Changes in pityriasis rosea lesions over the course of the disease may make a correct diagnosis difficult, unless the patient is seen during the early stages of lesion formation. The final diagnosis in this case was of the rare variant known as pityriasis rosea irritata. This case highlights the importance of an excellent patient history in order to correctly diagnose the disease. [source] Atypical presentations of thrombotic thrombocytopenic purpura: A review,JOURNAL OF CLINICAL APHERESIS, Issue 1 2009Ravi Sarode Abstract Thrombotic thrombocytopenic purpura (TTP) is diagnosed by the presence of microangiopathic hemolytic anemia and thrombocytopenia in a patient who frequently presents with central nervous system involvement and, to a lesser extent, renal dysfunction. Recent understanding of the pathophysiology of TTP due to severe deficiency of von Willebrand factor cleaving protease, known as ADAMTS13, has improved diagnosis of TTP. Once the diagnosis is suspected, life-saving therapeutic plasma exchange therapy is initiated. Occasionally, an unusual clinical presentation makes TTP diagnosis difficult, thus resulting in a delay in the management of TTP. This review highlights a variety of atypical TTP presentations described in the literature. It is intended to bring unusual scenarios to the clinician's awareness, so that timely treatment can be delivered. J. Clin. Apheresis, 2009. © 2008 Wiley-Liss, Inc. [source] Pseudotumoral encapsulated fat necrosis with diffuse pseudomembranous degenerationJOURNAL OF CUTANEOUS PATHOLOGY, Issue 8 2004F. Felipo An extraordinary case of encapsulated fat necrosis characterized by its large size, diffuse formation of pseudomembranes, and tendency to recur after excision is reported. A 67-year-old Caucasian woman suffering from morbid obesity was admitted for diagnosis and surgical treatment of a soft tissue mass showing a longest diameter of 14 cm and lying adjacently to the scar from previous appendicectomy. Histopathologic features were consistent with a nodular-cystic encapsulated fat necrosis with diffuse pseudomembranous transformation. Eight months after surgery, a new larger mass (longest diameter of 18 cm) sharing identical histopathologic features appeared in the same location. Encapsulated fat necrosis is a well-defined entity even though several names have been proposed for this condition, including mobile encapsulated lipoma, encapsulated necrosis, or nodular-cystic fat necrosis. Its pathogenesis seems to be related to ischemic changes secondary to previous trauma. It may occasionally show degenerative changes, including dystrophic calcifications and presence of pseudomembranes. To our knowledge, these are the first reported cases of encapsulated fat necrosis presenting as lesions of such size and showing diffuse formation of pseudomembranes; these particular features made diagnosis difficult and led to consideration of a wide range of potential diagnostic possibilities. This case expands the clinico-pathologic spectrum of membranocystic fat necrosis, including the potential ability of this subcutaneous fatty tissue abnormality to recur after surgical excision. [source] Review article: the clinical management of congenital chloride diarrhoeaALIMENTARY PHARMACOLOGY & THERAPEUTICS, Issue 4 2010S. WEDENOJA Aliment Pharmacol Ther,31, 477,485 Summary Background, Congenital chloride diarrhoea in a newborn is a medical emergency, requiring early diagnostics and treatment to prevent severe dehydration and infant mortality. While most of the 250 cases reported arise from Finland, Poland and Arab countries, single cases with this autosomal recessive disorder appear worldwide. Such congenital chloride diarrhoea rarity makes diagnosis difficult. Life-long salt substitution with NaCl and KCl stabilizes fluid, electrolyte and acid-base balance diagnosis. When properly treated, the long-term outcome is favourable. Aim To summarize data on congenital chloride diarrhoea diagnosis, pathophysiology and treatment, and to provide guidelines for both acute and long-term management of congenital chloride diarrhoea. Methods, Data are based on MEDLINE search for ,chloride diarrhoea', in addition to clinical experience in the treatment of the largest known series of patients. Results, Treatment of congenital chloride diarrhoea involves (i) life-long salt substitution; (ii) management of acute dehydration and hypokalaemia during gastroenteritis or other infections; and (iii) recognition and treatment of other manifestations of the disease, such as intestinal inflammation, renal impairment and male subfertility. Conclusions, This review summarizes data on congenital chloride diarrhoea and provides guidelines for treatment. After being a mostly paediatric problem, adult patients constitute a rare challenge for gastroenterologists worldwide. [source] Mycobacterium tuberculosis infection in liver transplantationLIVER TRANSPLANTATION, Issue 10 2010Baligh R. Yehia Mycobacterium tuberculosis can cause significant infections in liver transplant candidates and recipients. Its nonspecific clinical features and prolonged growth time in culture make the diagnosis difficult, and treating tuberculosis (TB) remains challenging because of significant toxicities and drug-drug interactions. The diagnosis of a latent TB infection may be accomplished with tuberculin skin testing and with the newer interferon-, release assays, although this infection may be underrecognized because of host factors. Latent TB should be treated, but the degree of liver failure and the likelihood of progression to active TB will dictate whether this should occur before or after transplantation. Patients who have a history of TB, have used muromonab-CD3 or anti-T lymphocyte antibodies, or have experienced allograft rejection or coinfection with cytomegalovirus, Pneumocystisjiroveci, or Nocardia are at the greatest risk of developing active TB. Active TB in transplant patients is difficult to treat because of drug-induced hepatotoxicity and the significant interaction between rifampin and calcineurin inhibitors. In this article, we review the epidemiology, clinical features, and evaluation of transplant candidates and recipients. In addition, we offer recommendations on the appropriate diagnostic and treatment regimens for patients with latent and active TB infections. Liver Transpl 16:1129,1135, 2010. © 2010 AASLD. [source] Absence of neuronal nitric oxide synthase (nNOS) as a pathological marker for the diagnosis of Becker muscular dystrophy with rod domain deletionsNEUROPATHOLOGY & APPLIED NEUROBIOLOGY, Issue 5 2004S. Torelli Immunohistochemistry using antibodies to dystrophin is the pathological basis for the diagnosis of Duchenne and Becker muscular dystrophy (DMD and BMD). While the sarcolemma of DMD muscle is negative, BMD muscle generally shows variable labelling because of the translation of a partially functional dystrophin that is localized to the sarcolemma. In rare cases, however, this labelling is equivocal and similar to that observed in controls making diagnosis difficult. We report here that in such instances immunolabelling with antibodies to the neuronal form of nitric oxide synthase (nNOS) can be useful in suspecting a dystrophinopathy with a mutation in the ,hot-spot' rod domain and help to direct molecular analysis. nNOS localizes to the sarcolemma of mature muscle fibres via several components of the dystrophin-associated protein complex (DAPC) including dystrophin but sarcolemmal nNOS is lost when dystrophin levels are very low or absent because of deletions in critical regions of the rod domain. We report three cases who presented with only mild or no muscle weakness but had elevated serum creatine kinase activity and dystrophin immunolabelling indistinguishable from normal, making a pathological diagnosis difficult. All three cases had a complete absence of sarcolemmal nNOS and were subsequently found to have an in-frame deletion in the common rod domain exons (in these cases 48, 45,51, 47,53) compatible with a BMD. In addition, we observed that nNOS appears to be developmentally regulated with the antibody used and was often absent from the sarcolemma of immature fibres. These findings demonstrate the value of including antibodies to nNOS in routine immunohistochemical studies and that absence of nNOS can be a more sensitive marker than up-regulation of utrophin for diagnosis of BMD. Immaturity of fibres, however, needs to be taken into account, especially in neonates. [source] Review of current treatment of sacral chordomaORTHOPAEDIC SURGERY, Issue 3 2009Kang-wu Chen MD Chordoma is a relatively rare, locally aggressive tumor which is known to arise from embryonic remnants of the notochord and to occur exclusively along the spinal axis, with a predilection for the sacrum. Although chordoma typically presents as a single lesion, a few cases of metastasis have been reported and the prognosis of such patients may be poor. Chordomas are slowly growing tumors with insidious onset of symptoms, making early diagnosis difficult. Recent improvements in imaging have provided valuable information for early diagnosis. The optimal treatment for sacral chordoma is en bloc sacral resection with wide surgical margins. Improvement in surgical techniques has widened the opportunities to provide effective treatment. However, the effects of adjuvant treatment options are still both unclear and controversial. Substantial progress has been made in the study of molecular-targeted therapy. The authors review the current surgical and adjuvant treatment modalities, including molecular-targeted therapy, available for management of sacral chordoma. [source] Grand mal seizures: an unusual and puzzling primary presentation of ruptured hepatic hydatid cystPEDIATRIC ANESTHESIA, Issue 6 2006PHILIPPE G. MEYER MD Summary We report a case of hepatic hydatidosis where the first clinical manifestations, generalized seizures after minor head and abdominal trauma, and delayed anaphylaxis, made the primary diagnosis difficult. Severe anaphylaxis has been reported as initial presentation of quiescent hepatic hydatidosis. In endemic areas, the diagnosis must be carefully ruled out in patients experiencing abrupt anaphylactic shock of uncertain etiology. The occurrence of unexplained vascular collapse after minor abdominal trauma in a patient originating from an endemic area should prompt the diagnosis and urgent treatment should be initiated; firstly emergency management of the anaphylactic shock and later, surgical treatment of the cysts. [source] Leprosy: Not always an easy diagnosis and often a management challengeAUSTRALASIAN JOURNAL OF DERMATOLOGY, Issue 1 2009Rachel Manifold SUMMARY Leprosy is rare in Australia, particularly in the southern states. We report two cases of leprosy in southern Australia that presented to the dermatology outpatients' department within a 4-month period. The presentation of the first case was complex, making the correct diagnosis difficult. Both cases involved immigrants from South-East Asia, were classified as multi-bacillary leprosy as defined by the World Health Organization, and were commenced on the recommended multiple drug therapy. The ensuing clinical course was complicated, with both cases developing Type 1 leprosy reactions. The first case also developed the rare but serious dapsone-induced delayed hypersensitivity reaction. [source] | ||||||||||||||||||||||